Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values t_alt_count t_ref_count validation_alt_allele validation_method validation_status validation_tumor_sample pox qox pox_cutoff isArtifactMode oxoGCut TEKT3 64518 broad.mit.edu 37 17 15211980 15211980 + Splice_Site SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:15211980C>T ENST00000395930.1 - 8 1443 c.e8+1 TEKT3_ENST00000338696.2_Splice_Site NM_031898.2 NP_114104.1 Q9BXF9 TEKT3_HUMAN tektin 3 microtubule cytoskeleton organization cilium axoneme|flagellar axoneme|microtubule endometrium(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1) 23 UCEC - Uterine corpus endometrioid carcinoma (92;0.0877) TCCCACCTTACCGTAGCTGAG 0.587000 41 100 0 0 1 0 0 ANK1 286 broad.mit.edu 37 8 41566326 41566326 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:41566326C>T ENST00000396942.1 - 17 2051 c.1968G>A c.(1966-1968)tcG>tcA p.S656S ANK1_ENST00000379758.2_Silent_p.S656S|ANK1_ENST00000352337.4_Silent_p.S656S|ANK1_ENST00000265709.8_Silent_p.S689S|ANK1_ENST00000396945.1_Silent_p.S656S|ANK1_ENST00000289734.7_Silent_p.S656S|ANK1_ENST00000347528.4_Silent_p.S656S P16157 ANK1_HUMAN ankyrin 1, erythrocytic 656 89 kDa domain. axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 122 Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211) all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188) OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264) TGGCTTGTTTCGAGAGCAGCA 0.582000 91 188 0 0 1 0 0 CGNL1 84952 broad.mit.edu 37 15 57810592 57810592 + Splice_Site SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr15:57810592G>A ENST00000281282.5 + 10 2690 c.2610_splice c.e10-1 p.G871_splice NM_001252335.1|NM_032866.4 NP_001239264.1|NP_116255.2 Q0VF96 CGNL1_HUMAN cingulin-like 1 871 myosin complex|tight junction motor activity autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1) 60 all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186) TCATTGTAGGGAGAAATACGA 0.468000 8 19 0 0 1 0 0 SSX3 10214 broad.mit.edu 37 X 48209460 48209460 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chrX:48209460C>T ENST00000298396.2 - 6 480 c.428G>A c.(427-429)gGa>gAa p.G143E SSX3_ENST00000376893.3_Missense_Mutation_p.G143E|SSX3_ENST00000376895.1_Missense_Mutation_p.G55E NM_021014.2 NP_066294.1 Q99909 SSX3_HUMAN synovial sarcoma, X breakpoint 3 143 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding endometrium(3)|large_intestine(1)|lung(9) 13 AGTTGGTTTTCCCGGGGGGCA 0.502000 135 64 0 0 1 0 0 PMM1 5372 broad.mit.edu 37 22 41980057 41980057 + Missense_Mutation SNP G G A rs138410974 TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr22:41980057G>A ENST00000216259.7 - 5 464 c.380C>T c.(379-381)aCc>aTc p.T127I PMM1_ENST00000466645.1_5'UTR NM_002676.2 NP_002667.2 Q92871 PMM1_HUMAN phosphomannomutase 1 127 dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine cytosol metal ion binding|phosphomannomutase activity NS(1)|large_intestine(4)|lung(3)|ovary(1)|urinary_tract(2) 11 CTCGATGAAGGTTCCACTGGT 0.592000 31 108 0 0 1 0 0 ANKEF1 63926 broad.mit.edu 37 20 10030750 10030750 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr20:10030750C>T ENST00000378380.3 + 6 1862 c.1533C>T c.(1531-1533)gcC>gcT p.A511A SNAP25-AS1_ENST00000603542.1_RNA|SNAP25-AS1_ENST00000421143.2_RNA|ANKEF1_ENST00000378392.1_Silent_p.A511A|ANKEF1_ENST00000488991.1_3'UTR NM_198798.1 NP_942093.1 ankyrin repeat and EF-hand domain containing 1 TGAAAAAGGCCTTTGAATCAG 0.388000 44 69 0 0 1 0 0 SPHKAP 80309 broad.mit.edu 37 2 228882759 228882759 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:228882759G>A ENST00000392056.3 - 7 2857 c.2811C>T c.(2809-2811)gtC>gtT p.V937V SPHKAP_ENST00000344657.5_Silent_p.V937V NM_001142644.1 NP_001136116.1 Q2M3C7 SPKAP_HUMAN SPHK1 interactor, AKAP domain containing 937 PKA-RII subunit binding domain (By similarity). cytoplasm protein binding NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 185 Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23) Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232) CCATGGAGACGACCGTGTCTG 0.473000 70 118 0 0 1 0 0 GBP6 163351 broad.mit.edu 37 1 89847482 89847482 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:89847482C>T ENST00000370456.4 + 7 1194 c.1101C>T c.(1099-1101)ttC>ttT p.F367F GBP6_ENST00000535065.1_Silent_p.F237F NM_198460.2 NP_940862.2 Q6ZN66 GBP6_HUMAN guanylate binding protein family, member 6 367 GTP binding|GTPase activity breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 42 Lung NSC(277;0.0908) all cancers(265;0.0108)|Epithelial(280;0.0398) TTGCAATCTTCATGGAGCACT 0.502000 22 62 0 0 1 0 0 GPR137 56834 broad.mit.edu 37 11 64056125 64056125 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:64056125C>T ENST00000438980.2 + 6 1070 c.963C>T c.(961-963)ttC>ttT p.F321F GPR137_ENST00000313074.3_Silent_p.F321F|GPR137_ENST00000539851.1_Intron|GPR137_ENST00000411458.1_Silent_p.F379F|GPR137_ENST00000377702.4_Silent_p.F271F NM_001170880.1 NP_001164351.1 Q96N19 G137A_HUMAN G protein-coupled receptor 137 321 integral to membrane central_nervous_system(1)|endometrium(3)|kidney(1)|lung(4)|skin(1) 10 GGTCCTACTTCTTTGACCGGG 0.612000 10 29 0 0 1 0 0 DNMBP 23268 broad.mit.edu 37 10 101716648 101716648 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:101716648G>A ENST00000342239.3 - 4 674 c.583C>T c.(583-585)Cca>Tca p.P195S DNMBP_ENST00000324109.4_Missense_Mutation_p.P195S|DNMBP-AS1_ENST00000434409.1_RNA Q6XZF7 DNMBP_HUMAN dynamin binding protein 195 SH3 3. intracellular signal transduction|regulation of Rho protein signal transduction cell junction|cytoskeleton|Golgi stack|synapse protein binding|Rho guanyl-nucleotide exchange factor activity central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1) 61 Colorectal(252;0.234) Epithelial(162;2.94e-10)|all cancers(201;3.15e-08) AAACCTTCTGGAAAAATGCCT 0.478000 26 157 0 0 1 0 0 PCDH18 54510 broad.mit.edu 37 4 138442470 138442470 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:138442470G>A ENST00000344876.4 - 4 3507 c.3121C>T c.(3121-3123)Ccc>Tcc p.P1041S PCDH18_ENST00000511115.1_Missense_Mutation_p.P221S|PCDH18_ENST00000510305.1_Missense_Mutation_p.P252S|PCDH18_ENST00000507846.1_Missense_Mutation_p.P820S|PCDH18_ENST00000412923.2_Missense_Mutation_p.P1040S NM_019035.3 NP_061908.1 Q9HCL0 PCD18_HUMAN protocadherin 18 1041 Interaction with DAB1 (By similarity). brain development|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 86 all_hematologic(180;0.24) GCTGGCAAGGGTCCCTTCCTG 0.577000 46 60 0 0 1 0 0 CUBN 8029 broad.mit.edu 37 10 16967673 16967673 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:16967673G>A ENST00000377833.4 - 42 6437 c.6372C>T c.(6370-6372)gtC>gtT p.V2124V NM_001081.3 NP_001072.2 O60494 CUBN_HUMAN cubilin (intrinsic factor-cobalamin receptor) 2124 CUB 15. cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8) 241 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) GGCCACTTTGGACCAGGACGT 0.502000 6 94 0 0 1 0 0 SESN2 83667 broad.mit.edu 37 1 28601482 28601482 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:28601482C>T ENST00000253063.3 + 8 1488 c.1167C>T c.(1165-1167)ctC>ctT p.L389L NM_031459.4 NP_113647.1 P58004 SESN2_HUMAN sestrin 2 389 cell cycle arrest cytoplasm|nucleus cervix(1)|endometrium(3)|large_intestine(5)|lung(7)|ovary(2)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 27 Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;4.76e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261) OV - Ovarian serous cystadenocarcinoma(117;2.98e-22)|Colorectal(126;3.04e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00279)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00595)|READ - Rectum adenocarcinoma(331;0.0649) CCTCCGTGCTCCGCAGGGCCA 0.552000 19 57 0 0 1 0 0 CPE 1363 broad.mit.edu 37 4 166408639 166408639 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:166408639G>A ENST00000402744.4 + 6 1303 c.1023G>A c.(1021-1023)gtG>gtA p.V341V NM_001873.2 NP_001864.1 P16870 CBPE_HUMAN carboxypeptidase E 341 cardiac left ventricle morphogenesis|neuropeptide signaling pathway|protein modification process extracellular region|nucleus|plasma membrane metallocarboxypeptidase activity|protein binding|zinc ion binding endometrium(2)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 26 all_hematologic(180;0.221) Prostate(90;0.0962)|Melanoma(52;0.18) GBM - Glioblastoma multiforme(119;0.137) Glucagon recombinant(DB00040)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) AGATCACCGTGGAGCTTAGCT 0.443000 37 83 0 0 1 0 0 ZNF585B 92285 broad.mit.edu 37 19 37677397 37677397 + Nonsense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:37677397G>A ENST00000532828.2 - 5 1293 c.1042C>T c.(1042-1044)Caa>Taa p.Q348* ZNF585B_ENST00000527838.1_3'UTR|ZNF585B_ENST00000312908.5_5'UTR|ZNF585B_ENST00000531805.1_Nonsense_Mutation_p.Q293*|CTC-454I21.3_ENST00000585860.2_Intron NM_152279.3 NP_689492.3 Q52M93 Z585B_HUMAN zinc finger protein 585B 348 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding NS(1)|breast(3)|endometrium(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1) 29 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) TCTCTACTTTGAATCTTCTCA 0.408000 66 154 0 0 1 0 0 VSTM2A 222008 broad.mit.edu 37 7 54614659 54614659 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:54614659G>A ENST00000302287.3 + 3 672 c.266G>A c.(265-267)aGa>aAa p.R89K VSTM2A_ENST00000498834.1_3'UTR|VSTM2A_ENST00000402026.2_Missense_Mutation_p.R88K|VSTM2A_ENST00000402613.3_Missense_Mutation_p.R89K|VSTM2A_ENST00000404951.1_Missense_Mutation_p.R89K|VSTM2A_ENST00000407838.3_Missense_Mutation_p.R89K Q8TAG5 VTM2A_HUMAN V-set and transmembrane domain containing 2A 89 Ig-like V-type. extracellular region endometrium(1)|large_intestine(2)|lung(12)|prostate(1) 16 STAD - Stomach adenocarcinoma(5;0.0525) TTGCCCGACAGAGACCCGGAC 0.726000 28 64 0 0 1 0 0 GOSR2 9570 broad.mit.edu 37 17 45009490 45009490 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:45009490C>T ENST00000415811.2 + 4 316 c.261C>T c.(259-261)ttC>ttT p.F87F GOSR2_ENST00000575949.1_Silent_p.F87F|GOSR2_ENST00000439730.2_Silent_p.F87F|RP11-156P1.2_ENST00000571841.1_Silent_p.F87F|GOSR2_ENST00000576910.2_Silent_p.F87F|GOSR2_ENST00000393456.2_Silent_p.F87F|GOSR2_ENST00000225567.4_Silent_p.F87F NM_001012511.1 NP_001012529.1 O14653 GOSR2_HUMAN golgi SNAP receptor complex member 2 87 cellular membrane fusion|ER to Golgi vesicle-mediated transport|protein transport Golgi membrane|integral to membrane transporter activity kidney(1)|large_intestine(2)|liver(1)|lung(1)|ovary(1)|skin(1) 7 BRCA - Breast invasive adenocarcinoma(9;0.102) TCAGAAACTTCCAGCATCGGC 0.537000 118 197 0 0 1 0 0 THEMIS 387357 broad.mit.edu 37 6 128134538 128134538 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:128134538G>A ENST00000368250.1 - 5 1509 c.1011C>T c.(1009-1011)atC>atT p.I337I THEMIS_ENST00000368248.2_Silent_p.I416I|THEMIS_ENST00000537166.1_Silent_p.I381I|THEMIS_ENST00000543064.1_Silent_p.I416I Q8N1K5 THMS1_HUMAN thymocyte selection associated 416 CABIT 2. negative T cell selection|positive T cell selection|T cell receptor signaling pathway cytoplasm|nucleus breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3) 60 ACTTTTTGAGGATTTTTTCAC 0.448000 41 74 0 0 1 0 0 ZNF836 162962 broad.mit.edu 37 19 52660057 52660057 + Silent SNP C C T rs78442342 TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:52660057C>T ENST00000322146.8 - 5 1400 c.879G>A c.(877-879)cgG>cgA p.R293R CTC-471J1.8_ENST00000594362.1_RNA|ZNF836_ENST00000597252.1_Silent_p.R293R NM_001102657.1 NP_001096127.1 Q6ZNA1 ZN836_HUMAN zinc finger protein 836 293 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 26 TGTGACTTCTCCGGTGATTTA 0.393000 29 71 0 0 1 0 0 APOB 338 broad.mit.edu 37 2 21225528 21225528 + Missense_Mutation SNP C C T rs61743313 byFrequency TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:21225528C>T ENST00000233242.1 - 29 12893 c.12766G>A c.(12766-12768)Gag>Aag p.E4256K NM_000384.2 NP_000375.2 P04114 APOB_HUMAN apolipoprotein B 4256 cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6) 305 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) TTCCTTAACTCGAAAGGAAGT 0.378000 41 113 0 0 1 0 0 MYO3A 53904 broad.mit.edu 37 10 26500924 26500924 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:26500924G>A ENST00000543632.1 + 17 1989 c.1929G>A c.(1927-1929)aaG>aaA p.K643K MYO3A_ENST00000265944.5_3'UTR Q8NEV4 MYO3A_HUMAN myosin IIIA 0 Myosin head-like. protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception cytoplasm|filamentous actin|filopodium|myosin complex actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 146 GCCGTCGGAAGGCGCTGGAGC 0.682000 13 15 0 0 1 0 0 TTC13 79573 broad.mit.edu 37 1 231069593 231069593 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:231069593G>A ENST00000366661.4 - 9 922 c.915C>T c.(913-915)tcC>tcT p.S305S TTC13_ENST00000414259.1_Silent_p.S252S|TTC13_ENST00000366662.4_Silent_p.S252S NM_024525.4 NP_078801.3 Q8NBP0 TTC13_HUMAN tetratricopeptide repeat domain 13 305 binding central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 39 Breast(184;0.0871)|Ovarian(103;0.183) Prostate(94;0.167) COAD - Colon adenocarcinoma(196;0.243) CTTCTTTGAAGGATTCAATAG 0.294000 44 74 0 0 1 0 0 C1orf65 164127 broad.mit.edu 37 1 223568314 223568314 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:223568314G>A ENST00000366875.3 + 1 1600 c.1497G>A c.(1495-1497)agG>agA p.R499R NM_152610.2 NP_689823.2 Q8N715 CA065_HUMAN chromosome 1 open reading frame 65 499 breast(4)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|skin(3) 29 GBM - Glioblastoma multiforme(131;0.0704) AGGAACAGAGGAAGATGCGCA 0.602000 36 95 0 0 1 0 0 SPSB3 90864 broad.mit.edu 37 16 1827830 1827830 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr16:1827830C>T ENST00000566339.1 - 6 969 c.639G>A c.(637-639)cgG>cgA p.R213R SPSB3_ENST00000301717.4_Silent_p.R213R NM_080861.3 NP_543137.2 Q6PJ21 SPSB3_HUMAN splA/ryanodine receptor domain and SOCS box containing 3 213 B30.2/SPRY. intracellular signal transduction endometrium(1)|kidney(4)|lung(3)|prostate(2) 10 CCTGGCCGAACCGCGATGAGA 0.647000 28 37 0 0 1 0 0 FANCD2 2177 broad.mit.edu 37 3 10106450 10106450 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:10106450G>A ENST00000287647.3 + 23 2152 c.2059G>A c.(2059-2061)Gaa>Aaa p.E687K FANCD2_ENST00000383807.1_Missense_Mutation_p.E687K|FANCD2_ENST00000383806.1_Missense_Mutation_p.E687K|FANCD2_ENST00000419585.1_Missense_Mutation_p.E687K NM_033084.3 NP_149075.2 Q9BXW9 FACD2_HUMAN Fanconi anemia, complementation group D2 687 DNA repair|response to gamma radiation nucleoplasm protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 51 OV - Ovarian serous cystadenocarcinoma(96;0.148) GTACGGACTGGAAGAATACGA 0.498000 """D, Mis, N, F""" """AML, leukemia""" Involved in tolerance or repair of DNA crosslinks Fanconi Anemia 14 217 0 0 1 0 0 AMFR 267 broad.mit.edu 37 16 56448184 56448184 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr16:56448184G>A ENST00000290649.5 - 2 538 c.328C>T c.(328-330)Ctt>Ttt p.L110F NM_001144.5 NP_001135.3 Q9UKV5 AMFR2_HUMAN autocrine motility factor receptor, E3 ubiquitin protein ligase 110 endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|protein oligomerization|protein polyubiquitination integral to endoplasmic reticulum membrane|integral to membrane of membrane fraction protein binding|receptor activity|ubiquitin-protein ligase activity|zinc ion binding p.L110V(1) NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|skin(1)|upper_aerodigestive_tract(1) 17 CTCACTCGAAGAGGGCCAAAC 0.378000 62 49 0 0 1 0 0 DDX10 1662 broad.mit.edu 37 11 108559762 108559762 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:108559762C>T ENST00000526794.1 + 7 980 c.948C>T c.(946-948)agC>agT p.S316S DDX10_ENST00000322536.3_Silent_p.S316S Q13206 DDX10_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 10 316 Helicase C-terminal. ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity breast(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|prostate(2) 27 all_cancers(61;1.29e-11)|all_epithelial(67;2.96e-07)|Melanoma(852;1.54e-05)|Acute lymphoblastic leukemia(157;4.24e-05)|all_hematologic(158;0.000141)|Breast(348;0.026)|all_neural(223;0.0729) BRCA - Breast invasive adenocarcinoma(274;2.48e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.000609)|OV - Ovarian serous cystadenocarcinoma(223;0.133) AGAAGAAGAGCATTGTATTTT 0.383000 T NUP98 AML* 16 184 0 0 1 0 0 KIAA1217 56243 broad.mit.edu 37 10 24822116 24822116 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:24822116G>A ENST00000376451.2 + 11 2673 c.2413G>A c.(2413-2415)Gat>Aat p.D805N KIAA1217_ENST00000307544.6_Missense_Mutation_p.D805N|KIAA1217_ENST00000396446.1_Missense_Mutation_p.D805N|KIAA1217_ENST00000376452.3_Missense_Mutation_p.D1086N|KIAA1217_ENST00000396445.1_Missense_Mutation_p.D805N|KIAA1217_ENST00000376462.1_Missense_Mutation_p.D1042N|KIAA1217_ENST00000458595.1_Missense_Mutation_p.D1087N|KIAA1217_ENST00000376454.3_Missense_Mutation_p.D1122N Q5T5P2 SKT_HUMAN KIAA1217 1122 embryonic skeletal system development cytoplasm breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1) 70 CTCCTCAAAGGATGAGGAGGA 0.547000 26 72 0 0 1 0 0 PCDHGA6 56109 broad.mit.edu 37 5 140754976 140754976 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:140754976G>A ENST00000517434.1 + 1 1326 c.1326G>A c.(1324-1326)gtG>gtA p.V442V PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA3_ENST00000253812.6_Intron NM_018919.2|NM_032086.1 NP_061742.1|NP_114475.1 breast(1)|large_intestine(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTCTAAATGTGGCAGACACCA 0.498000 7 193 0 0 1 0 0 KIAA2022 340533 broad.mit.edu 37 X 73962572 73962572 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chrX:73962572G>A ENST00000373468.1 - 3 2471 c.1820C>T c.(1819-1821)tCc>tTc p.S607F KIAA2022_ENST00000055682.5_Missense_Mutation_p.S607F Q5QGS0 K2022_HUMAN KIAA2022 607 base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle delta DNA polymerase complex 3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3) 109 TTGCTTTTGGGAAAAAGGTGT 0.458000 18 11 0 0 1 0 0 PDZD2 23037 broad.mit.edu 37 5 32010436 32010436 + Splice_Site SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:32010436G>A ENST00000438447.1 + 6 1643 c.1254_splice c.e6-1 p.E419_splice PDZD2_ENST00000282493.3_Splice_Site_p.E419_splice O15018 PDZD2_HUMAN PDZ domain containing 2 419 PDZ 2. cell adhesion cell-cell junction|endoplasmic reticulum|extracellular region|nucleus NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 148 GTCCCCATAGGAAAACTCCGC 0.498000 10 221 0 0 1 0 0 ZFHX4 79776 broad.mit.edu 37 8 77768112 77768112 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:77768112G>A ENST00000521891.2 + 10 9403 c.8955G>A c.(8953-8955)aaG>aaA p.K2985K ZFHX4_ENST00000455469.2_Silent_p.K2940K|ZFHX4_ENST00000050961.6_Silent_p.K2940K|ZFHX4_ENST00000518282.1_Silent_p.K2959K NM_024721.4 NP_078997.4 Q86UP3 ZFHX4_HUMAN zinc finger homeobox 4 2940 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6) 432 BRCA - Breast invasive adenocarcinoma(89;0.0895) CAAAGGAAAAGAAATTTAAAA 0.468000 HNSCC(33;0.089) 15 30 0 0 1 0 0 FLNB 2317 broad.mit.edu 37 3 58134454 58134454 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:58134454C>T ENST00000357272.4 + 36 6131 c.5966C>T c.(5965-5967)cCc>cTc p.P1989L FLNB_ENST00000358537.3_Missense_Mutation_p.P1965L|FLNB_ENST00000429972.2_Missense_Mutation_p.P1978L|FLNB_ENST00000419752.2_Missense_Mutation_p.P1809L|FLNB_ENST00000348383.5_Missense_Mutation_p.P1989L|FLNB_ENST00000493452.1_Missense_Mutation_p.P1796L|FLNB_ENST00000490882.1_Missense_Mutation_p.P2020L|FLNB_ENST00000295956.4_Missense_Mutation_p.P1989L O75369 FLNB_HUMAN filamin B, beta 1989 Interaction with the cytoplasmic tail of GP1BA. actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction cell cortex|integral to membrane|nucleus|sarcomere actin binding NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5) 120 BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898) GCCAACAGCCCCGTGTCTATC 0.577000 39 54 0 0 1 0 0 SOX17 64321 broad.mit.edu 37 8 55372474 55372474 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:55372474C>T ENST00000297316.4 + 2 1368 c.1164C>T c.(1162-1164)ctC>ctT p.L388L NM_022454.3 NP_071899.1 Q9H6I2 SOX17_HUMAN SRY (sex determining region Y)-box 17 388 Sox C-terminal. angiogenesis|cardiac cell fate determination|endocardial cell differentiation|endocardium formation|endoderm formation|heart formation|heart looping|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell growth|outflow tract morphogenesis|positive regulation of transcription, DNA-dependent|protein destabilization|protein stabilization|regulation of embryonic development|renal system development|vasculogenesis|Wnt receptor signaling pathway transcription factor complex beta-catenin binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription factor binding|transcription regulatory region DNA binding endometrium(6)|kidney(1)|large_intestine(3)|lung(7)|prostate(1) 18 Lung NSC(129;0.109)|all_epithelial(80;0.176)|all_lung(136;0.181) OV - Ovarian serous cystadenocarcinoma(7;1.9e-07)|Epithelial(17;1.7e-05)|all cancers(17;0.000159) GTGTGAATCTCCCCGACAGCC 0.607000 21 53 0 0 1 0 0 COL11A1 1301 broad.mit.edu 37 1 103355058 103355058 + Silent SNP G G T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:103355058G>T ENST00000358392.2 - 59 4770 c.4453C>A c.(4453-4455)Cga>Aga p.R1485R COL11A1_ENST00000353414.4_Silent_p.R1434R|COL11A1_ENST00000512756.1_Silent_p.R1357R|COL11A1_ENST00000370096.3_Silent_p.R1473R NM_080629.2 NP_542196.2 P12107 COBA1_HUMAN collagen, type XI, alpha 1 1473 Triple-helical region. collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception collagen type XI extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1) 258 all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181) Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248) GGGAGCCCTCGGTCACCTTTT 0.413000 38 101 5.04308e-16 5.08626e-16 1 1 0 KRT31 3881 broad.mit.edu 37 17 39551553 39551553 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:39551553C>T ENST00000251645.2 - 5 872 c.820G>A c.(820-822)Gag>Aag p.E274K NM_002277.2 NP_002268.2 Q15323 K1H1_HUMAN keratin 31 274 Coil 2.|Rod. epidermis development intermediate filament protein binding|structural constituent of cytoskeleton breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1) 31 Breast(137;0.000496) CGTCTCAGCTCGATGATCTCC 0.577000 57 133 0 0 1 0 0 BZRAP1 9256 broad.mit.edu 37 17 56386251 56386251 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:56386251C>T ENST00000355701.3 - 22 5252 c.4382G>A c.(4381-4383)gGa>gAa p.G1461E BZRAP1_ENST00000343736.4_Missense_Mutation_p.G1461E|BZRAP1_ENST00000268893.6_Missense_Mutation_p.G1401E NM_001261835.1|NM_004758.3 NP_001248764.1|NP_004749.2 O95153 RIMB1_HUMAN benzodiazapine receptor (peripheral) associated protein 1 1461 mitochondrion benzodiazepine receptor binding cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 54 Medulloblastoma(34;0.127)|all_neural(34;0.237) AGCCTCTAGTCCAGTCCTGGG 0.701000 16 90 0 0 1 0 0 GJA9 81025 broad.mit.edu 37 1 39340907 39340907 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:39340907C>T ENST00000454994.2 - 2 1140 c.864G>A c.(862-864)gtG>gtA p.V288V RP5-864K19.4_ENST00000456813.1_RNA|GJA9_ENST00000360786.3_Silent_p.V288V|GJA9_ENST00000357771.3_Silent_p.V288V|RP5-864K19.4_ENST00000433671.2_RNA|MYCBP_ENST00000489803.1_5'UTR|RP5-864K19.4_ENST00000443161.1_RNA P57773 CXA9_HUMAN gap junction protein, alpha 9, 59kDa 288 cell communication connexon complex|integral to membrane breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0393) OV - Ovarian serous cystadenocarcinoma(33;8.23e-17) TTTGCTTTTCCACTAACAGAT 0.393000 54 108 0 0 1 0 0 BATF2 116071 broad.mit.edu 37 11 64757095 64757095 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:64757095G>A ENST00000301887.4 - 3 461 c.331C>T c.(331-333)Cca>Tca p.P111S BATF2_ENST00000527716.1_Missense_Mutation_p.P87S|BATF2_ENST00000435842.2_Missense_Mutation_p.P26S NM_138456.3 NP_612465.3 Q8N1L9 BATF2_HUMAN basic leucine zipper transcription factor, ATF-like 2 111 nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(1)|ovary(1)|skin(1) 9 TGTCCCTGTGGGCCAGGGCCC 0.667000 5 15 0 0 1 0 0 NDN 4692 broad.mit.edu 37 15 23931540 23931540 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr15:23931540G>A ENST00000331837.4 - 1 910 c.825C>T c.(823-825)atC>atT p.I275I NM_002487.2 NP_002478.1 Q99608 NECD_HUMAN necdin, melanoma antigen (MAGE) family member 275 MAGE. negative regulation of cell proliferation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus|perikaryon DNA binding p.I275I(1) breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|skin(1) 39 all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14) all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153) GGAACTCCATGATTTGCATCT 0.582000 Prader-Willi syndrome 16 62 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179592872 179592872 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:179592872C>T ENST00000589042.1 - 67 19903 c.19679G>A c.(19678-19680)gGa>gAa p.G6560E TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.G6243E|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G5316E|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 6243 Ig-like 47. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TGCATCATCTCCTGCTACATT 0.383000 11 24 0 0 1 0 0 MAST4 375449 broad.mit.edu 37 5 66426155 66426155 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:66426155C>T ENST00000404260.3 + 15 2180 c.1872C>T c.(1870-1872)atC>atT p.I624I MAST4_ENST00000403625.2_Silent_p.I621I|MAST4_ENST00000405643.1_Silent_p.I442I|MAST4_ENST00000403666.1_Silent_p.I432I|MAST4_ENST00000261569.7_Silent_p.I427I O15021 MAST4_HUMAN microtubule associated serine/threonine kinase family member 4 624 Protein kinase. cytoplasm ATP binding|magnesium ion binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2) 13 Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245) Lung(70;0.011) AGCGGGATATCCTGACTTTTG 0.463000 39 75 0 0 1 0 0 CELSR3 1951 broad.mit.edu 37 3 48682616 48682616 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:48682616G>A ENST00000544264.1 - 26 8119 c.7839C>T c.(7837-7839)ctC>ctT p.L2613L CELSR3_ENST00000164024.4_Silent_p.L2608L Q9NYQ7 CELR3_HUMAN cadherin, EGF LAG seven-pass G-type receptor 3 2608 homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity|protein binding NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 83 BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619) AGTAGTGCAGGAGGATGGCGA 0.652000 12 35 0 0 1 0 0 UBXN11 91544 broad.mit.edu 37 1 26612380 26612380 + Missense_Mutation SNP C C A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:26612380C>A ENST00000314675.7 - 5 427 c.348G>T c.(346-348)aaG>aaT p.K116N UBXN11_ENST00000374222.1_Missense_Mutation_p.K236N|UBXN11_ENST00000374223.1_5'UTR|UBXN11_ENST00000374221.3_Missense_Mutation_p.K236N|UBXN11_ENST00000374217.2_Missense_Mutation_p.K203N|UBXN11_ENST00000357089.4_Missense_Mutation_p.K203N|UBXN11_ENST00000436301.2_Missense_Mutation_p.K161N|UBXN11_ENST00000535108.1_Missense_Mutation_p.K78N NM_001077262.1 NP_001070730.1 Q5T124 UBX11_HUMAN UBX domain protein 11 236 cytoplasm|cytoskeleton endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(3) 23 TCCGGTAGAGCTTCAGCGGGA 0.627000 OREG0013265 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 30 68 2.08457e-15 2.10188e-15 1 1 0 MOXD1 26002 broad.mit.edu 37 6 132636806 132636806 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:132636806G>A ENST00000367963.3 - 10 1594 c.1476C>T c.(1474-1476)ttC>ttT p.F492F MOXD1_ENST00000336749.3_Silent_p.F424F NM_015529.2 NP_056344.2 Q6UVY6 MOXD1_HUMAN monooxygenase, DBH-like 1 492 catecholamine metabolic process endoplasmic reticulum membrane|integral to membrane copper ion binding|dopamine beta-monooxygenase activity breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(3)|skin(1) 37 Breast(56;0.0495) OV - Ovarian serous cystadenocarcinoma(155;0.0132)|GBM - Glioblastoma multiforme(226;0.0191) TAACCCCAATGAACTGAAGTT 0.378000 65 183 0 0 1 0 0 RASGEF1B 153020 broad.mit.edu 37 4 82361990 82361990 + Nonsense_Mutation SNP T T A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:82361990T>A ENST00000509081.1 - 10 1320 c.1099A>T c.(1099-1101)Aag>Tag p.K367* RASGEF1B_ENST00000335927.7_Nonsense_Mutation_p.K326*|RASGEF1B_ENST00000264400.2_Nonsense_Mutation_p.K368* Q0VAM2 RGF1B_HUMAN RasGEF domain family, member 1B 368 Ras-GEF. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction intracellular Ras guanyl-nucleotide exchange factor activity endometrium(2)|kidney(5)|large_intestine(4)|lung(13)|prostate(1)|skin(1) 26 GTGCATACCTTTTCTCTACTA 0.368000 10 250 0 0 1 0 0 PTPRC 5788 broad.mit.edu 37 1 198721849 198721849 + Missense_Mutation SNP T T A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:198721849T>A ENST00000367376.2 + 31 3622 c.3451T>A c.(3451-3453)Tcc>Acc p.S1151T PTPRC_ENST00000442510.2_Missense_Mutation_p.S1153T|PTPRC_ENST00000352140.3_Missense_Mutation_p.S1103T|PTPRC_ENST00000348564.6_Missense_Mutation_p.S992T|PTPRC_ENST00000594404.1_Missense_Mutation_p.S990T NM_002838.4 NP_002829.3 P08575 PTPRC_HUMAN protein tyrosine phosphatase, receptor type, C 1151 Tyrosine-protein phosphatase 2. axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway focal adhesion|integral to plasma membrane|membrane raft protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3) 111 CCAGAAGAATTCCTCTGAAGG 0.433000 25 61 0 0 1 0 0 GIT1 28964 broad.mit.edu 37 17 27909082 27909082 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:27909082G>A ENST00000225394.3 - 5 734 c.486C>T c.(484-486)ttC>ttT p.F162F GIT1_ENST00000581348.1_Silent_p.F162F|GIT1_ENST00000579937.1_Silent_p.F162F|RP11-68I3.2_ENST00000581474.1_RNA|GIT1_ENST00000394869.3_Silent_p.F162F NM_014030.3 NP_054749.2 Q9Y2X7 GIT1_HUMAN G protein-coupled receptor kinase interacting ArfGAP 1 162 regulation of ARF GTPase activity|regulation of G-protein coupled receptor protein signaling pathway cytoplasm|focal adhesion ARF GTPase activator activity|protein binding|zinc ion binding large_intestine(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 9 READ - Rectum adenocarcinoma(3;0.0419)|Colorectal(3;0.069) TCTCTGGGTGGAAGAAGTTGG 0.622000 21 34 0 0 1 0 0 CFHR5 81494 broad.mit.edu 37 1 196952084 196952084 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:196952084C>T ENST00000367414.5 + 2 256 c.200C>T c.(199-201)tCc>tTc p.S67F CFHR5_ENST00000256785.4_Missense_Mutation_p.S43F NM_030787.3 NP_110414.1 Q9BXR6 FHR5_HUMAN complement factor H-related 5 43 Sushi 1. complement activation, alternative pathway extracellular region NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2) 49 AACCCTTTTTCCCAAGTTCCT 0.348000 45 112 0 0 1 0 0 TCEB2 6923 broad.mit.edu 37 16 2825462 2825462 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr16:2825462G>A ENST00000409477.1 - 2 298 c.219C>T c.(217-219)gcC>gcT p.A73A TCEB2_ENST00000409906.4_Silent_p.A78A|TCEB2_ENST00000262306.7_Silent_p.A78A|TCEB2_ENST00000572954.1_Intron Q15370 ELOB_HUMAN transcription elongation factor B (SIII), polypeptide 2 (18kDa, elongin B) 78 positive regulation of viral transcription|protein complex assembly|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction cytosol|nucleoplasm protein binding endometrium(2)|prostate(1) 3 CTGCCCGGAAGGCCAGCCCCA 0.607000 16 47 0 0 1 0 0 TAS2R60 338398 broad.mit.edu 37 7 143141243 143141243 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:143141243G>A ENST00000332690.1 + 1 698 c.698G>A c.(697-699)gGa>gAa p.G233E EPHA1-AS1_ENST00000429289.1_RNA NM_177437.1 NP_803186.1 P59551 T2R60_HUMAN taste receptor, type 2, member 60 233 sensory perception of bitter taste integral to membrane G-protein coupled receptor activity breast(1)|kidney(1)|large_intestine(2)|lung(17)|prostate(1)|skin(7)|urinary_tract(2) 31 Melanoma(164;0.172) ACAACCTCAGGATTCCGAGAG 0.473000 84 152 0 0 1 0 0 ARHGAP6 395 broad.mit.edu 37 X 11157221 11157221 + Nonsense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chrX:11157221C>T ENST00000337414.4 - 13 3559 c.2687G>A c.(2686-2688)tGg>tAg p.W896* ARHGAP6_ENST00000534860.1_Intron|ARHGAP6_ENST00000380736.1_Nonsense_Mutation_p.W693*|ARHGAP6_ENST00000303025.6_Nonsense_Mutation_p.W693* NM_013427.2 NP_038286.2 O43182 RHG06_HUMAN Rho GTPase activating protein 6 896 actin filament polymerization|activation of phospholipase C activity|negative regulation of focal adhesion assembly|negative regulation of stress fiber assembly|Rho protein signal transduction actin filament|cytosol phospholipase activator activity|phospholipase binding|Rho GTPase activator activity|SH3 domain binding|SH3/SH2 adaptor activity cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 38 CCCCTGGATCCAGGCTGCCGC 0.692000 22 6 0 0 1 0 0 PRX 57716 broad.mit.edu 37 19 40903767 40903767 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:40903767G>A ENST00000324001.7 - 7 762 c.492C>T c.(490-492)tcC>tcT p.S164S PRX_ENST00000291825.7_3'UTR NM_181882.2 NP_870998.2 Q9BXM0 PRAX_HUMAN periaxin 164 Arg/Lys-rich (basic). axon ensheathment cytoplasm|nucleus|plasma membrane protein binding breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9) 47 Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384) GACGCAGGCGGGAGAACTTGG 0.667000 9 16 0 0 1 0 0 CDC42BPA 8476 broad.mit.edu 37 1 227387341 227387341 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:227387341G>A ENST00000366769.3 - 4 1658 c.367C>T c.(367-369)Cgt>Tgt p.R123C CDC42BPA_ENST00000366766.2_Missense_Mutation_p.R123C|CDC42BPA_ENST00000334218.5_Missense_Mutation_p.R123C|CDC42BPA_ENST00000535525.1_Missense_Mutation_p.R123C|CDC42BPA_ENST00000366767.3_Missense_Mutation_p.R123C|CDC42BPA_ENST00000366765.3_Missense_Mutation_p.R123C|CDC42BPA_ENST00000366764.2_Missense_Mutation_p.R123C NM_003607.3 NP_003598.2 Q5VT25 MRCKA_HUMAN CDC42 binding protein kinase alpha (DMPK-like) 123 Protein kinase. actin cytoskeleton reorganization|intracellular signal transduction cell leading edge|cell-cell junction|cytoplasm ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity p.R123C(2) NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2) 77 all_cancers(173;0.156)|Prostate(94;0.0792) CTTTCTTCACGAAAACATGCT 0.284000 18 75 0 0 1 0 0 KCNS3 3790 broad.mit.edu 37 2 18112578 18112578 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:18112578G>A ENST00000403915.1 + 3 754 c.303G>A c.(301-303)caG>caA p.Q101Q KCNS3_ENST00000304101.4_Silent_p.Q101Q|KCNS3_ENST00000465292.1_Intron Q9BQ31 KCNS3_HUMAN potassium voltage-gated channel, delayed-rectifier, subfamily S, member 3 101 energy reserve metabolic process|regulation of insulin secretion Golgi apparatus|voltage-gated potassium channel complex delayed rectifier potassium channel activity|potassium channel regulator activity endometrium(5)|kidney(1)|large_intestine(7)|lung(11)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158) CATTCTGCCAGGAGATCGAGT 0.483000 63 110 0 0 1 0 0 NDUFAF2 91942 broad.mit.edu 37 5 60241050 60241050 + Translation_Start_Site SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:60241050G>A ENST00000296597.5 + 0 95 NDUFAF2_ENST00000511107.1_De_novo_Start_OutOfFrame NM_174889.4 NP_777549.1 Q8N183 MIMIT_HUMAN NADH dehydrogenase (ubiquinone) complex I, assembly factor 2 membrane|mitochondrion electron carrier activity|NADH dehydrogenase (ubiquinone) activity central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|ovary(1) 6 Lung NSC(810;3.36e-05)|Prostate(74;0.0225)|Ovarian(174;0.17)|Breast(144;0.237) TGCGGGTCCCGCTGCTGGCAG 0.632000 3 22 0 0 1 0 0 DNAH17-AS1 100996295 broad.mit.edu 37 17 76496370 76496370 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:76496370G>A ENST00000598378.1 + 1 1460 c.302G>A c.(301-303)cGg>cAg p.R101Q DNAH17_ENST00000389840.5_Intron|DNAH17_ENST00000585328.1_Intron TCCCTCCTCCGGACCCCGGCC 0.572000 12 29 0 0 1 0 0 GLI2 2736 broad.mit.edu 37 2 121712840 121712840 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:121712840G>A ENST00000452319.1 + 5 537 c.477G>A c.(475-477)aaG>aaA p.K159K GLI2_ENST00000314490.11_5'UTR|GLI2_ENST00000361492.4_Silent_p.K159K|GLI2_ENST00000435313.2_3'UTR P10070 GLI2_HUMAN GLI family zinc finger 2 159 axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 Renal(3;0.0496) Prostate(154;0.0623) AGCACCTTAAGGAGAGGGGAC 0.582000 7 65 0 0 1 0 0 SEC14L5 9717 broad.mit.edu 37 16 5040863 5040863 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr16:5040863C>T ENST00000251170.7 + 5 621 c.441C>T c.(439-441)atC>atT p.I147I NM_014692.1 NP_055507.1 O43304 S14L5_HUMAN SEC14-like 5 (S. cerevisiae) 147 PRELI/MSF1. integral to membrane|intracellular transporter activity NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|skin(1) 29 TGGAGAAGATCGCCATGAAGC 0.522000 15 19 0 0 1 0 0 DNAH17 8632 broad.mit.edu 37 17 76511086 76511086 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:76511086C>T ENST00000389840.5 - 26 3995 c.3871G>A c.(3871-3873)Gac>Aac p.D1291N DNAH17_ENST00000585328.1_Missense_Mutation_p.D1292N dynein, axonemal, heavy chain 17 NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 116 BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656) GTCTTCCAGTCCTCGATGCTG 0.433000 20 76 0 0 1 0 0 TCTE1 202500 broad.mit.edu 37 6 44254197 44254197 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:44254197G>A ENST00000371505.4 - 3 472 c.350C>T c.(349-351)cCa>cTa p.P117L TMEM151B_ENST00000438774.2_Intron|TCTE1_ENST00000371503.3_5'UTR NM_182539.3 NP_872345.2 Q5JU00 TCTE1_HUMAN t-complex-associated-testis-expressed 1 117 breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 34 Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) CACAGCCAGTGGTAGGTCAGG 0.607000 90 264 0 0 1 0 0 ATP2C1 27032 broad.mit.edu 37 3 130653500 130653500 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:130653500C>T ENST00000510168.1 + 5 819 c.269C>T c.(268-270)tCt>tTt p.S90F ATP2C1_ENST00000422190.2_Missense_Mutation_p.S90F|ATP2C1_ENST00000513801.1_Missense_Mutation_p.S74F|ATP2C1_ENST00000507488.2_Missense_Mutation_p.S74F|ATP2C1_ENST00000533801.2_Missense_Mutation_p.S85F|ATP2C1_ENST00000508532.1_Missense_Mutation_p.S90F|ATP2C1_ENST00000504948.1_Missense_Mutation_p.S74F|ATP2C1_ENST00000505330.1_Missense_Mutation_p.S74F|ATP2C1_ENST00000428331.2_Missense_Mutation_p.S90F|ATP2C1_ENST00000504381.1_Missense_Mutation_p.S35F|ATP2C1_ENST00000328560.8_Missense_Mutation_p.S90F|ATP2C1_ENST00000393221.4_Missense_Mutation_p.S124F|ATP2C1_ENST00000359644.3_Missense_Mutation_p.S90F P98194 AT2C1_HUMAN ATPase, Ca++ transporting, type 2C, member 1 90 actin cytoskeleton reorganization|ATP biosynthetic process|calcium-dependent cell-cell adhesion|cellular calcium ion homeostasis|cellular manganese ion homeostasis|epidermis development|Golgi calcium ion homeostasis|Golgi calcium ion transport|positive regulation of I-kappaB kinase/NF-kappaB cascade Golgi apparatus|Golgi membrane|integral to membrane|trans-Golgi network ATP binding|calcium ion binding|calcium-transporting ATPase activity|manganese ion binding|manganese-transporting ATPase activity|metal ion binding|signal transducer activity breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|prostate(2)|skin(2)|urinary_tract(1) 39 Arsenic trioxide(DB01169)|Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Miconazole(DB01110)|Sevoflurane(DB01236) CTTCTGGCTTCTGCAGTCATC 0.343000 Hailey-Hailey disease 26 48 0 0 1 0 0 EXD2 55218 broad.mit.edu 37 14 69701576 69701576 + Nonsense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr14:69701576C>T ENST00000409014.1 + 7 1159 c.502C>T c.(502-504)Cga>Tga p.R168* EXD2_ENST00000312994.5_Nonsense_Mutation_p.R293*|EXD2_ENST00000409018.3_Nonsense_Mutation_p.R293*|EXD2_ENST00000409675.1_Nonsense_Mutation_p.R168*|EXD2_ENST00000409242.1_Nonsense_Mutation_p.R168*|EXD2_ENST00000492815.1_3'UTR|EXD2_ENST00000409949.1_Nonsense_Mutation_p.R168*|EXD2_ENST00000449989.1_Nonsense_Mutation_p.R168* NM_001193360.1 NP_001180289.1 Q9NVH0 EXD2_HUMAN exonuclease 3'-5' domain containing 2 168 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process intracellular 3'-5' exonuclease activity|nucleic acid binding breast(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(7)|prostate(1)|urinary_tract(1) 14 CATCCCATTTCGAAGCAAAGG 0.443000 16 40 0 0 1 0 0 DPY19L4 286148 broad.mit.edu 37 8 95777414 95777414 + Missense_Mutation SNP T T C TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:95777414T>C ENST00000414645.2 + 9 973 c.874T>C c.(874-876)Tat>Cat p.Y292H NM_181787.2 NP_861452.2 Q7Z388 D19L4_HUMAN dpy-19-like 4 (C. elegans) 292 integral to membrane breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(2) 21 Breast(36;3.85e-06) ACAACAGGTTTATGAAGTTTA 0.244000 6 137 0 0 1 0 0 PROX2 283571 broad.mit.edu 37 14 75323563 75323563 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr14:75323563G>A ENST00000556084.2 - 2 867 c.868C>T c.(868-870)Cgc>Tgc p.R290C PROX2_ENST00000556489.2_Missense_Mutation_p.R517C|PROX2_ENST00000445876.1_Missense_Mutation_p.R517C NM_001080408.2 NP_001073877.2 Q3B8N5 PROX2_HUMAN prospero homeobox 2 517 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding kidney(1)|large_intestine(2)|lung(3) 6 KIRC - Kidney renal clear cell carcinoma(43;0.238) BRCA - Breast invasive adenocarcinoma(234;0.00652) TCTGAATTGCGGAGAACCACC 0.418000 18 142 0 0 1 0 0 PCDH17 27253 broad.mit.edu 37 13 58208145 58208145 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr13:58208145G>A ENST00000377918.3 + 1 1491 c.1465G>A c.(1465-1467)Gag>Aag p.E489K NM_001040429.2 NP_001035519.1 O14917 PCD17_HUMAN protocadherin 17 489 Cadherin 5. E -> D (in Ref. 1; AAB84144). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding|protein binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 120 Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132) GBM - Glioblastoma multiforme(99;1.06e-05) CATCCCGGGAGAGTACCTGGG 0.582000 5 61 0 0 1 0 0 NCKAP1L 3071 broad.mit.edu 37 12 54894407 54894407 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:54894407C>T ENST00000293373.6 + 3 383 c.304C>T c.(304-306)Cgg>Tgg p.R102W NCKAP1L_ENST00000545638.2_Missense_Mutation_p.R52W NM_005337.4 NP_005328.2 P55160 NCKPL_HUMAN NCK-associated protein 1-like 102 actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis cytosol|integral to plasma membrane|membrane fraction|SCAR complex protein complex binding|protein kinase activator activity|Rac GTPase activator activity NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2) 80 CATGGAATTTCGGGTGAGCTC 0.393000 37 80 0 0 1 0 0 CREBBP 1387 broad.mit.edu 37 16 3789592 3789592 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr16:3789592G>A ENST00000262367.5 - 25 5076 c.4267C>T c.(4267-4269)Cct>Tct p.P1423S CREBBP_ENST00000382070.3_Missense_Mutation_p.P1385S NM_004380.2 NP_004371.2 Q92793 CBP_HUMAN CREB binding protein 1423 Cys/His-rich. cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia cytoplasm|nuclear body histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21) 295 Ovarian(90;0.0266) OV - Ovarian serous cystadenocarcinoma(1;3.54e-05) GTGTTTGGAGGGGGGCAATCA 0.512000 """T, N, F, Mis, O""" """MLL, MORF, RUNXBP2""" """ALL, AML, DLBCL, B-NHL """ Rubinstein-Taybi syndrome 14 59 0 0 1 0 0 CADPS2 93664 broad.mit.edu 37 7 122261661 122261661 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:122261661C>T ENST00000334010.7 - 5 1399 c.978G>A c.(976-978)tcG>tcA p.S326S CADPS2_ENST00000449022.2_Silent_p.S326S|CADPS2_ENST00000412584.2_Silent_p.S326S|CADPS2_ENST00000313070.7_Silent_p.S326S NM_001167940.1 NP_001161412.1 Q86UW7 CAPS2_HUMAN Ca++-dependent secretion activator 2 326 exocytosis|protein transport cell junction|cytoplasmic vesicle membrane|synapse lipid binding|metal ion binding p.S326S(1) breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2) 43 GACCACCTTTCGAAACTGGAA 0.368000 33 133 0 0 1 0 0 KIF1A 547 broad.mit.edu 37 2 241689958 241689958 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:241689958G>A ENST00000498729.2 - 28 3111 c.2865C>T c.(2863-2865)ttC>ttT p.F955F KIF1A_ENST00000320389.7_Silent_p.F854F NM_001244008.1 NP_001230937.1 Q12756 KIF1A_HUMAN kinesin family member 1A 854 anterograde axon cargo transport cytoplasm|microtubule|nucleus ATP binding|microtubule motor activity p.F854F(1) NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1) 66 all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176) TCAGGTACACGAAGGCCCTGG 0.647000 11 21 0 0 1 0 0 PIK3C2G 5288 broad.mit.edu 37 12 18435052 18435052 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:18435052G>A ENST00000433979.1 + 2 153 c.37G>A c.(37-39)Gaa>Aaa p.E13K RERGL_ENST00000541632.1_Intron|PIK3C2G_ENST00000535651.1_Missense_Mutation_p.E13K|PIK3C2G_ENST00000538779.1_Missense_Mutation_p.E13K|PIK3C2G_ENST00000266497.5_Missense_Mutation_p.E13K NM_004570.4 NP_004561.3 O75747 P3C2G_HUMAN phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma 13 cell communication|phosphatidylinositol-mediated signaling membrane|phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1) 66 Hepatocellular(102;0.194) AAATCCTAATGAATCACACGA 0.363000 8 12 0 0 1 0 0 RECQL5 9400 broad.mit.edu 37 17 73625528 73625528 + Missense_Mutation SNP A A T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:73625528A>T ENST00000317905.5 - 16 2134 c.1975T>A c.(1975-1977)Ttc>Atc p.F659I RECQL5_ENST00000423245.2_Missense_Mutation_p.F632I|RECQL5_ENST00000443199.2_5'UTR NM_004259.6 NP_004250.4 O94762 RECQ5_HUMAN RecQ protein-like 5 659 DNA recombination|DNA repair cytoplasm|nuclear membrane|nucleolus|nucleoplasm ATP binding|ATP-dependent helicase activity|DNA helicase activity|nucleic acid binding breast(1)|cervix(3)|endometrium(3)|kidney(7)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 36 all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09) all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112) CCTTTGGGGAAACCAGCTCCC 0.642000 Other identified genes with known or suspected DNA repair function 20 97 0 0 1 0 0 ADAM29 11086 broad.mit.edu 37 4 175898783 175898783 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:175898783C>T ENST00000359240.3 + 5 2777 c.2107C>T c.(2107-2109)Cca>Tca p.P703S RP13-577H12.2_ENST00000507525.1_RNA|ADAM29_ENST00000445694.1_Missense_Mutation_p.P703S|ADAM29_ENST00000404450.4_Missense_Mutation_p.P703S|ADAM29_ENST00000514159.1_Missense_Mutation_p.P703S NM_001278125.1|NM_014269.4 NP_001265054.1|NP_055084.3 Q9UKF5 ADA29_HUMAN ADAM metallopeptidase domain 29 703 proteolysis|spermatogenesis integral to plasma membrane metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2) 93 Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286) AAAAAGTAAACCAATAAAAAA 0.338000 15 55 0 0 1 0 0 IRS1 3667 broad.mit.edu 37 2 227660967 227660967 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:227660967G>A ENST00000305123.4 - 1 3508 c.2488C>T c.(2488-2490)Cca>Tca p.P830S NM_005544.2 NP_005535.1 P35568 IRS1_HUMAN insulin receptor substrate 1 830 fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity caveola|cytosol|insulin receptor complex|microsome|nucleus insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2) 69 Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23) Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137) TGGGGATGTGGAAGGCTGGGC 0.622000 51 81 0 0 1 0 0 FAM193B 54540 broad.mit.edu 37 5 176951519 176951519 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:176951519G>A ENST00000329540.5 - 9 3670 c.841C>T c.(841-843)Ccc>Tcc p.P281S FAM193B_ENST00000514747.1_Missense_Mutation_p.P655S|FAM193B_ENST00000443375.2_Missense_Mutation_p.P622S Q6IPW0 Q6IPW0_HUMAN family with sequence similarity 193, member B 331 kidney(1)|large_intestine(3) 4 CTGGCTGGGGGCCGGGGGGCT 0.662000 20 35 0 0 1 0 0 PKHD1 5314 broad.mit.edu 37 6 51612882 51612882 + Missense_Mutation SNP C C A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:51612882C>A ENST00000371117.3 - 58 9807 c.9532G>T c.(9532-9534)Ggt>Tgt p.G3178C PKHD1_ENST00000340994.4_Missense_Mutation_p.G3178C NM_138694.3 NP_619639.3 P08F94 PKHD1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive) 3178 cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body protein binding|receptor activity NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5) 304 Lung NSC(77;0.0605) GCCAAAAGACCAATAGTATTG 0.418000 6 333 0.00116845 0.00117123 1 1 0 TATDN3 128387 broad.mit.edu 37 1 212981151 212981151 + Nonsense_Mutation SNP C C A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:212981151C>A ENST00000366974.4 + 8 655 c.561C>A c.(559-561)taC>taA p.Y187* TATDN3_ENST00000532324.1_Nonsense_Mutation_p.Y187*|TATDN3_ENST00000526997.1_Intron|TATDN3_ENST00000526641.1_Nonsense_Mutation_p.Y166*|TATDN3_ENST00000366973.4_Nonsense_Mutation_p.Y187*|TATDN3_ENST00000531963.1_Nonsense_Mutation_p.Y187*|TATDN3_ENST00000525569.1_3'UTR NM_001042552.2|NM_001042553.2|NM_001146169.1|NM_001146171.1 NP_001036017.1|NP_001036018.1|NP_001139641.1|NP_001139643.1 Q17R31 TATD3_HUMAN TatD DNase domain containing 3 187 nucleus endodeoxyribonuclease activity, producing 5'-phosphomonoesters|metal ion binding endometrium(1)|large_intestine(2)|lung(6) 9 OV - Ovarian serous cystadenocarcinoma(81;0.00699)|all cancers(67;0.0118)|GBM - Glioblastoma multiforme(131;0.0801)|Epithelial(68;0.104) GAGCTGGGTACTTCTTCTCAA 0.373000 57 60 7.50695e-29 7.594e-29 1 1 0 ZNF229 7772 broad.mit.edu 37 19 44933871 44933871 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:44933871G>A ENST00000291187.4 - 6 1389 c.1067C>T c.(1066-1068)tCg>tTg p.S356L CTC-512J12.4_ENST00000588655.1_RNA|ZNF229_ENST00000591289.1_Intron|ZNF229_ENST00000588931.1_Missense_Mutation_p.S362L NM_001278510.1 NP_001265439.1 Q9UJW7 ZN229_HUMAN zinc finger protein 229 362 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1) 45 Prostate(69;0.0352) AAGAAGAACCGATTTATACCT 0.498000 61 132 0 0 1 0 0 PRRC2B 84726 broad.mit.edu 37 9 134351121 134351121 + Missense_Mutation SNP G G T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:134351121G>T ENST00000357304.4 + 15 3660 c.3605G>T c.(3604-3606)gGg>gTg p.G1202V PRRC2B_ENST00000458550.1_Intron|PRRC2B_ENST00000372249.1_5'UTR|PRRC2B_ENST00000405995.1_Intron NM_013318.3 NP_037450.2 Q5JSZ5 PRC2B_HUMAN proline-rich coiled-coil 2B 1202 protein binding cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2) 44 CGGGCCTTTGGGCGAGCCCTC 0.607000 11 28 1.58986e-06 1.59623e-06 1 1 0 NBAS 51594 broad.mit.edu 37 2 15415939 15415939 + Missense_Mutation SNP A A G TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:15415939A>G ENST00000281513.5 - 44 5418 c.5393T>C c.(5392-5394)cTt>cCt p.L1798P NBAS_ENST00000441750.1_Missense_Mutation_p.L1678P NM_015909.3 NP_056993.2 A2RRP1 NBAS_HUMAN neuroblastoma amplified sequence 1798 NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3) 112 TTTGTAATTAAGACCTAGCAG 0.363000 26 54 0 0 1 0 0 OR4X1 390113 broad.mit.edu 37 11 48285873 48285873 + Missense_Mutation SNP C C G TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:48285873C>G ENST00000320048.1 + 1 461 c.461C>G c.(460-462)tCt>tGt p.S154C NM_001004726.1 NP_001004726.1 Q8NH49 OR4X1_HUMAN olfactory receptor, family 4, subfamily X, member 1 (gene/pseudogene) 154 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(1) 28 CTGCTGCATTCTGTTGGGCAA 0.567000 22 67 0 0 1 0 0 OR1A1 8383 broad.mit.edu 37 17 3118958 3118958 + Missense_Mutation SNP T T G TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:3118958T>G ENST00000304094.1 + 1 44 c.44T>G c.(43-45)cTg>cGg p.L15R NM_014565.2 NP_055380.2 Q9P1Q5 OR1A1_HUMAN olfactory receptor, family 1, subfamily A, member 1 15 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 23 TTCATCCTCCTGGGAGTTACT 0.423000 6 136 0 0 1 0 0 TSHZ3 57616 broad.mit.edu 37 19 31768826 31768826 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:31768826C>T ENST00000240587.4 - 2 2200 c.1873G>A c.(1873-1875)Gag>Aag p.E625K NM_020856.2 NP_065907.2 Q63HK5 TSH3_HUMAN teashirt zinc finger homeobox 3 625 negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process growth cone|nucleus chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5) 123 Esophageal squamous(110;0.226) ATCTTCTCCTCCACTTTGGCA 0.582000 6 128 0 0 1 0 0 ZNF404 342908 broad.mit.edu 37 19 44376720 44376720 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:44376720C>T ENST00000587539.1 - 3 1645 c.1646G>A c.(1645-1647)aGa>aAa p.R549K ZNF404_ENST00000324394.6_Missense_Mutation_p.R547K NM_001033719.2 NP_001028891.2 Q494X3 ZN404_HUMAN zinc finger protein 404 549 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|skin(1)|stomach(2)|urinary_tract(1) 17 Prostate(69;0.0352) CATTAAGAGTCTCTCACCATG 0.353000 11 26 0 0 1 0 0 PAAF1 80227 broad.mit.edu 37 11 73602166 73602166 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:73602166C>T ENST00000544909.1 + 2 462 c.205C>T c.(205-207)Cat>Tat p.H69Y PAAF1_ENST00000543079.1_3'UTR|PAAF1_ENST00000310571.3_Missense_Mutation_p.H68Y|PAAF1_ENST00000544552.1_Missense_Mutation_p.H51Y|PAAF1_ENST00000535604.1_5'UTR|PAAF1_ENST00000541951.1_5'UTR|PAAF1_ENST00000536003.1_Missense_Mutation_p.H51Y|PAAF1_ENST00000376384.5_Missense_Mutation_p.H51Y Q9BRP4 PAAF1_HUMAN proteasomal ATPase-associated factor 1 68 interspecies interaction between organisms proteasome complex protein binding breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 24 Breast(11;7.42e-05) GAAAAGCATTCATATTTCATG 0.303000 8 38 0 0 1 0 0 FLG2 388698 broad.mit.edu 37 1 152324211 152324211 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:152324211C>T ENST00000388718.5 - 3 6123 c.6051G>A c.(6049-6051)caG>caA p.Q2017Q FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA NM_001014342.2 NP_001014364.1 Q5D862 FILA2_HUMAN filaggrin family member 2 2017 calcium ion binding|structural molecule activity NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 188 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TGGACCCTCTCTGTGTGGACT 0.532000 324 435 0 0 1 0 0 IL3RA 3563 broad.mit.edu 37 X 1467361 1467361 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chrX:1467361C>T ENST00000331035.4 + 4 570 c.221C>T c.(220-222)tCc>tTc p.S74F IL3RA_ENST00000381469.2_Intron NM_001267713.1|NM_002183.3 NP_001254642.1|NP_002174.1 P26951 IL3RA_HUMAN interleukin 3 receptor, alpha (low affinity) 74 integral to membrane|plasma membrane interleukin-3 receptor activity lung(1)|skin(2) 3 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) Sargramostim(DB00020) GGAGCAATTTCCTTATGTGAA 0.453000 16 444 0 0 1 0 0 MYBPH 4608 broad.mit.edu 37 1 203144486 203144486 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:203144486C>T ENST00000255416.4 - 2 366 c.309G>A c.(307-309)caG>caA p.Q103Q NM_004997.2 NP_004988.2 Q13203 MYBPH_HUMAN myosin binding protein H 103 Fibronectin type-III 1. cell adhesion|regulation of striated muscle contraction myosin filament structural constituent of muscle endometrium(5)|large_intestine(6)|lung(7)|skin(1)|urinary_tract(1) 20 BRCA - Breast invasive adenocarcinoma(75;0.153) Colorectal(1306;0.0306) GCACATAGCCCTGGAGGCCCA 0.627000 137 173 0 0 1 0 0 SDK2 54549 broad.mit.edu 37 17 71397854 71397854 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:71397854G>A ENST00000392650.3 - 20 2718 c.2718C>T c.(2716-2718)atC>atT p.I906I SDK2_ENST00000388726.3_Silent_p.I906I NM_001144952.1 NP_001138424.1 Q58EX2 SDK2_HUMAN sidekick cell adhesion molecule 2 906 Fibronectin type-III 4. cell adhesion integral to membrane breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 86 ATGTGTCCAGGATCTCACTGA 0.587000 7 9 0 0 1 0 0 BAI1 575 broad.mit.edu 37 8 143570778 143570778 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:143570778C>T ENST00000517894.1 + 16 3504 c.2610C>T c.(2608-2610)atC>atT p.I870I BAI1_ENST00000323289.5_Silent_p.I870I O14514 BAI1_HUMAN brain-specific angiogenesis inhibitor 1 870 axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development cell-cell junction|integral to plasma membrane G-protein coupled receptor activity|protein binding p.I870I(1) NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7) 57 all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155) CCTTGGAGATCGAGTTTGCCC 0.567000 7 138 0 0 1 0 0 PDK4 5166 broad.mit.edu 37 7 95219028 95219028 + Splice_Site SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:95219028C>T ENST00000005178.5 - 7 892 c.694_splice c.e7-1 p.G232_splice NM_002612.3 NP_002603.1 Q16654 PDK4_HUMAN pyruvate dehydrogenase kinase, isozyme 4 232 Histidine kinase. glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate mitochondrial matrix ATP binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1) 15 all_cancers(62;1.06e-10)|all_epithelial(64;1.04e-09)|Lung NSC(181;0.128)|all_lung(186;0.151) STAD - Stomach adenocarcinoma(171;0.0151) TGGAAATTTTCCTAGAAAAAT 0.313000 47 166 0 0 1 0 0 SETD1A 9739 broad.mit.edu 37 16 30990593 30990593 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr16:30990593G>A ENST00000262519.8 + 14 4172 c.3486G>A c.(3484-3486)aaG>aaA p.K1162K NM_014712.1 NP_055527.1 O15047 SET1A_HUMAN SET domain containing 1A 1162 Pro-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nuclear speck|Set1C/COMPASS complex histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 59 CCCCACCCAAGAAACGCCGGA 0.706000 15 49 0 0 1 0 0 ARID3C 138715 broad.mit.edu 37 9 34623493 34623493 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:34623493G>A ENST00000378909.2 - 4 886 c.794C>T c.(793-795)cCa>cTa p.P265L NM_001017363.1 NP_001017363.1 A6NKF2 ARI3C_HUMAN AT rich interactive domain 3C (BRIGHT-like) 265 Pro-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1) 14 all_epithelial(49;0.102) STAD - Stomach adenocarcinoma(86;0.178) GBM - Glioblastoma multiforme(74;0.175) ACCCTGGGCTGGGCCAGGGCT 0.692000 66 115 0 0 1 0 0 SLC9C1 285335 broad.mit.edu 37 3 111870712 111870712 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:111870712C>T ENST00000305815.5 - 28 3768 c.3516G>A c.(3514-3516)agG>agA p.R1172R SLC9C1_ENST00000487372.1_Silent_p.R1124R NM_183061.1 NP_898884.1 Q4G0N8 S9A10_HUMAN solute carrier family 9, subfamily C (Na+-transporting carboxylic acid decarboxylase), member 1 1172 cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis cilium|flagellar membrane|integral to membrane solute:hydrogen antiporter activity ACCTGACTTTCCTTAGGTTTA 0.512000 33 72 0 0 1 0 0 VCAM1 7412 broad.mit.edu 37 1 101198044 101198044 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:101198044G>A ENST00000294728.2 + 7 1697 c.1596G>A c.(1594-1596)atG>atA p.M532I VCAM1_ENST00000370119.4_Missense_Mutation_p.M470I|VCAM1_ENST00000370115.1_Missense_Mutation_p.M333I|VCAM1_ENST00000347652.2_Missense_Mutation_p.M440I NM_001078.3 NP_001069.1 P19320 VCAM1_HUMAN vascular cell adhesion molecule 1 532 Ig-like C2-type 6. heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome cell adhesion molecule binding|integrin binding central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 56 all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011) Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196) Carvedilol(DB01136) CTGTGAATATGACATGCTTGA 0.532000 41 76 0 0 1 0 0 MYPN 84665 broad.mit.edu 37 10 69881606 69881606 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:69881606G>A ENST00000358913.5 + 2 899 c.411G>A c.(409-411)agG>agA p.R137R MYPN_ENST00000373675.3_Silent_p.R137R|MYPN_ENST00000354393.2_Intron|MYPN_ENST00000540630.1_Silent_p.R137R NM_001256267.1|NM_032578.3 NP_001243196.1|NP_115967.2 Q86TC9 MYPN_HUMAN myopalladin 137 Interaction with CARP. nucleus|sarcomere actin binding breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5) 94 AGGCAAAAAGGCCACAGTATT 0.438000 32 56 0 0 1 0 0 OR2V2 285659 broad.mit.edu 37 5 180582653 180582653 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:180582653G>A ENST00000328275.1 + 1 711 c.711G>A c.(709-711)aaG>aaA p.K237K NM_206880.1 NP_996763.1 Q96R30 OR2V2_HUMAN olfactory receptor, family 2, subfamily V, member 2 237 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 all_cancers(89;8.26e-06)|all_epithelial(37;1.02e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684) all_cancers(40;0.0103)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.0652)|all_lung(500;0.149) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) CCTGGAAAAAGGCCCTGGCCA 0.577000 61 113 0 0 1 0 0 ZC3H15 55854 broad.mit.edu 37 2 187370230 187370230 + Missense_Mutation SNP C C A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:187370230C>A ENST00000337859.6 + 7 997 c.770C>A c.(769-771)gCc>gAc p.A257D ZC3H15_ENST00000544130.1_Missense_Mutation_p.A52D NM_018471.2 NP_060941.2 Q8WU90 ZC3HF_HUMAN zinc finger CCCH-type containing 15 257 Required for interaction with DRG1 (By similarity). cytoplasm|nucleolus|plasma membrane nucleic acid binding|zinc ion binding breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|skin(1) 15 OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Epithelial(96;0.0922)|all cancers(119;0.233) TCTTTTCTTGCCTGGAAGAAA 0.368000 30 70 3.1745e-13 3.19839e-13 1 1 0 MIOX 55586 broad.mit.edu 37 22 50927998 50927998 + Nonsense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr22:50927998G>A ENST00000395732.3 + 9 696 c.674G>A c.(673-675)tGg>tAg p.W225* MIOX_ENST00000216075.6_Nonsense_Mutation_p.W225*|MIOX_ENST00000395733.3_Intron Q9UGB7 MIOX_HUMAN myo-inositol oxygenase 225 inositol catabolic process cytoplasm|inclusion body aldo-keto reductase (NADP) activity|ferric iron binding|inositol oxygenase activity endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 13 all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247) TTCTACCCCTGGCACACGGGC 0.687000 18 53 0 0 1 0 0 GPR4 2828 broad.mit.edu 37 19 46094105 46094105 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:46094105G>A ENST00000323040.4 - 2 1964 c.1020C>T c.(1018-1020)ggC>ggT p.G340G OPA3_ENST00000544371.1_Intron NM_005282.2 NP_005273.1 P46093 GPR4_HUMAN G protein-coupled receptor 4 340 integral to plasma membrane G-protein coupled receptor activity breast(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 23 OV - Ovarian serous cystadenocarcinoma(262;0.0071)|GBM - Glioblastoma multiforme(486;0.128)|Epithelial(262;0.223) CCGCCCAGCTGCCAGTCATGG 0.632000 9 147 0 0 1 0 0 NLRP2 55655 broad.mit.edu 37 19 55493621 55493621 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:55493621G>A ENST00000543010.1 + 6 698 c.555G>A c.(553-555)atG>atA p.M185I NLRP2_ENST00000263437.6_Missense_Mutation_p.M182I|NLRP2_ENST00000427260.2_Missense_Mutation_p.M162I|NLRP2_ENST00000537859.1_Missense_Mutation_p.M163I|NLRP2_ENST00000339757.7_Missense_Mutation_p.M163I|NLRP2_ENST00000538819.1_Missense_Mutation_p.M161I|NLRP2_ENST00000391721.4_Missense_Mutation_p.M161I|NLRP2_ENST00000448584.2_Missense_Mutation_p.M185I NM_001174081.1 NP_001167552.1 Q9NX02 NALP2_HUMAN NLR family, pyrin domain containing 2 185 apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion cytoplasm ATP binding|Pyrin domain binding large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3) 11 BRCA - Breast invasive adenocarcinoma(297;0.163) GBM - Glioblastoma multiforme(193;0.028) TCCAGGTTATGGCTGAGAGAT 0.512000 90 221 0 0 1 0 0 CREBBP 1387 broad.mit.edu 37 16 3819272 3819272 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr16:3819272G>A ENST00000262367.5 - 15 3772 c.2963C>T c.(2962-2964)cCa>cTa p.P988L CREBBP_ENST00000382070.3_Missense_Mutation_p.P950L NM_004380.2 NP_004371.2 Q92793 CBP_HUMAN CREB binding protein 988 cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia cytoplasm|nuclear body histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21) 295 Ovarian(90;0.0266) OV - Ovarian serous cystadenocarcinoma(1;3.54e-05) GTCAGGTCCTGGCTGCTGGGA 0.572000 """T, N, F, Mis, O""" """MLL, MORF, RUNXBP2""" """ALL, AML, DLBCL, B-NHL """ Rubinstein-Taybi syndrome 6 113 0 0 1 0 0 SEPP1 6414 broad.mit.edu 37 5 42801399 42801399 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:42801399G>A ENST00000514985.1 - 5 825 c.569C>T c.(568-570)tCt>tTt p.S190F SEPP1_ENST00000507920.1_Missense_Mutation_p.L80F|CCDC152_ENST00000361970.5_3'UTR|SEPP1_ENST00000509276.1_5'UTR|SEPP1_ENST00000506577.1_Missense_Mutation_p.S190F|SEPP1_ENST00000511224.1_Missense_Mutation_p.S190F NM_005410.2 NP_005401.3 P49908 SEPP1_HUMAN selenoprotein P, plasma, 1 190 response to oxidative stress extracellular region selenium binding kidney(10)|large_intestine(1)|lung(4) 15 AGTAGCCAAAGATACACGTTT 0.373000 6 134 0 0 1 0 0 A2M 2 broad.mit.edu 37 12 9264799 9264799 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:9264799G>A ENST00000318602.7 - 4 746 c.439C>T c.(439-441)Cgt>Tgt p.R147C NM_000014.4 NP_000005.2 P01023 A2MG_HUMAN alpha-2-macroglobulin 147 blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|extracellular space|platelet alpha granule lumen enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 77 Bacitracin(DB00626)|Becaplermin(DB00102) GAGACAACACGAAATTTCACT 0.393000 20 46 0 0 1 0 0 CST9L 128821 broad.mit.edu 37 20 23545595 23545595 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr20:23545595C>T ENST00000376979.3 - 3 732 c.434G>A c.(433-435)gGa>gAa p.G145E NM_080610.2 NP_542177.1 Q9H4G1 CST9L_HUMAN cystatin 9-like 145 extracellular region cysteine-type endopeptidase inhibitor activity breast(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1) 8 Colorectal(13;0.0431)|Lung NSC(19;0.235) TCAGTGGAATCCCTCCAAGCA 0.537000 36 78 0 0 1 0 0 PKHD1L1 93035 broad.mit.edu 37 8 110393629 110393629 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:110393629G>A ENST00000378402.5 + 3 298 c.194G>A c.(193-195)gGa>gAa p.G65E NM_177531.4 NP_803875.2 Q86WI1 PKHL1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 65 IPT/TIG 1. immune response cytosol|extracellular space|integral to membrane receptor activity NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4) 263 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) TTTAACTATGGAGTTGATAAC 0.328000 HNSCC(38;0.096) 6 4 0 0 1 0 0 OR2G6 391211 broad.mit.edu 37 1 248685049 248685049 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:248685049C>T ENST00000343414.4 + 1 134 c.102C>T c.(100-102)ttC>ttT p.F34F NM_001013355.1 NP_001013373.1 Q5TZ20 OR2G6_HUMAN olfactory receptor, family 2, subfamily G, member 6 34 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 61 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) all_cancers(173;0.0156) OV - Ovarian serous cystadenocarcinoma(106;0.0265) TTTTGTACTTCTACGTCTTGA 0.463000 11 133 0 0 1 0 0 IL36RN 26525 broad.mit.edu 37 2 113820059 113820059 + Silent SNP T T A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:113820059T>A ENST00000393200.2 + 5 434 c.273T>A c.(271-273)ggT>ggA p.G91G IL36RN_ENST00000346807.3_Silent_p.G91G NM_012275.2 NP_036407.1 Q9UBH0 I36RA_HUMAN interleukin 36 receptor antagonist 91 extracellular space cytokine activity|interleukin-1 receptor antagonist activity large_intestine(3)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 11 TCTATCTTGGTGCCAAGGAAT 0.627000 21 61 0 0 1 0 0 LGR4 55366 broad.mit.edu 37 11 27389682 27389682 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:27389682G>A ENST00000379214.4 - 18 3031 c.2588C>T c.(2587-2589)tCg>tTg p.S863L LGR4_ENST00000389858.4_Missense_Mutation_p.S839L NM_018490.2 NP_060960.2 Q9BXB1 LGR4_HUMAN leucine-rich repeat containing G protein-coupled receptor 4 863 integral to membrane|plasma membrane protein-hormone receptor activity NS(3)|breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(10)|ovary(1) 32 TAAAAGAAACGATTCGCAGCA 0.473000 51 151 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179640794 179640794 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:179640794C>T ENST00000589042.1 - 28 6021 c.5797G>A c.(5797-5799)Gaa>Aaa p.E1933K TTN_ENST00000359218.5_Missense_Mutation_p.E1887K|TTN_ENST00000591111.1_Missense_Mutation_p.E1933K|TTN_ENST00000342992.6_Missense_Mutation_p.E1933K|TTN_ENST00000460472.2_Missense_Mutation_p.E1887K|TTN_ENST00000342175.6_Missense_Mutation_p.E1887K|TTN_ENST00000360870.5_Missense_Mutation_p.E1933K NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 1665 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) CTAAAATCTTCCCTCTGTTGA 0.448000 83 147 0 0 1 0 0 SLFN12 55106 broad.mit.edu 37 17 33749390 33749390 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:33749390C>T ENST00000394562.1 - 4 1181 c.658G>A c.(658-660)Gag>Aag p.E220K SLFN12_ENST00000452764.3_Missense_Mutation_p.E220K|SLFN12_ENST00000304905.5_Missense_Mutation_p.E220K Q8IYM2 SLN12_HUMAN schlafen family member 12 220 ATP binding breast(1)|kidney(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 18 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) GGGAGAATCTCTTTAATTCGT 0.313000 46 96 0 0 1 0 0 PLCH2 9651 broad.mit.edu 37 1 2435703 2435703 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:2435703C>T ENST00000419816.2 + 22 3576 c.3302C>T c.(3301-3303)cCc>cTc p.P1101L PLCH2_ENST00000449969.1_3'UTR|PLCH2_ENST00000378488.3_Missense_Mutation_p.P1065L|PLCH2_ENST00000378483.2_3'UTR|PLCH2_ENST00000378486.3_Missense_Mutation_p.P1101L O75038 PLCH2_HUMAN phospholipase C, eta 2 1101 intracellular signal transduction|lipid catabolic process cytoplasm|plasma membrane calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(3)|skin(1) 20 all_cancers(77;0.000161)|all_epithelial(69;5.98e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634) all_epithelial(116;7.32e-16)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.00832)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217) Epithelial(90;1.44e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.78e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;4.19e-05)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00034)|BRCA - Breast invasive adenocarcinoma(365;0.00443)|KIRC - Kidney renal clear cell carcinoma(229;0.00548)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.2) GGGCAGGTGCCCACGGAGCCC 0.716000 9 17 0 0 1 0 0 SCYL1 57410 broad.mit.edu 37 11 65298196 65298196 + Nonsense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:65298196C>T ENST00000524944.1 + 7 979 c.946C>T c.(946-948)Cag>Tag p.Q316* SCYL1_ENST00000420247.2_Nonsense_Mutation_p.Q316*|SCYL1_ENST00000527630.1_Nonsense_Mutation_p.Q316*|SCYL1_ENST00000527009.1_Nonsense_Mutation_p.Q173*|SCYL1_ENST00000525364.1_Nonsense_Mutation_p.Q316*|SCYL1_ENST00000270176.5_Nonsense_Mutation_p.Q316*|SCYL1_ENST00000533862.1_Nonsense_Mutation_p.Q316*|SCYL1_ENST00000279270.6_Nonsense_Mutation_p.Q316* Q96KG9 NTKL_HUMAN SCY1-like 1 (S. cerevisiae) 316 regulation of transcription, DNA-dependent|retrograde vesicle-mediated transport, Golgi to ER|transcription, DNA-dependent cis-Golgi network|COPI vesicle coat|ER-Golgi intermediate compartment|microtubule organizing center|nucleus ATP binding|DNA binding|protein tyrosine kinase activity ovary(1)|skin(1) 2 GGTGCTGCCCCAGCTGCTGAC 0.592000 53 95 0 0 1 0 0 A1CF 29974 broad.mit.edu 37 10 52575824 52575824 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:52575824G>A ENST00000395489.2 - 11 1458 c.1062C>T c.(1060-1062)ttC>ttT p.F354F A1CF_ENST00000373993.1_Silent_p.F361F|A1CF_ENST00000395495.1_Silent_p.F306F|ASAH2B_ENST00000483649.1_3'UTR|A1CF_ENST00000374001.1_Silent_p.F361F|A1CF_ENST00000373995.3_Silent_p.F369F|A1CF_ENST00000373997.3_Silent_p.F361F|A1CF_ENST00000493415.1_5'UTR|A1CF_ENST00000282641.2_Silent_p.F361F NM_001198819.1 NP_001185748.1 Q9NQ94 A1CF_HUMAN APOBEC1 complementation factor 361 cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm nucleotide binding|protein binding|single-stranded RNA binding NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3) 29 TGGTGGCTGGGAAATGAAGAC 0.488000 41 60 0 0 1 0 0 ZNF594 84622 broad.mit.edu 37 17 5086261 5086261 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:5086261G>A ENST00000399604.4 - 1 1431 c.1291C>T c.(1291-1293)Cct>Tct p.P431S ZNF594_ENST00000575779.1_Missense_Mutation_p.P431S Q96JF6 ZN594_HUMAN zinc finger protein 594 431 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 33 CATACACAAGGTTTTTCTCCA 0.393000 74 205 0 0 1 0 0 FAM135B 51059 broad.mit.edu 37 8 139323142 139323142 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:139323142G>A ENST00000395297.1 - 3 269 c.99C>T c.(97-99)acC>acT p.T33T NM_015912.3 NP_056996.2 Q49AJ0 F135B_HUMAN family with sequence similarity 135, member B 33 NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 238 all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0805) ACACCTTCAAGGTCACTCGGA 0.493000 HNSCC(54;0.14) 5 102 0 0 1 0 0 SATB2 23314 broad.mit.edu 37 2 200173566 200173566 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:200173566C>T ENST00000443023.1 - 9 2945 c.1480G>A c.(1480-1482)Gat>Aat p.D494N SATB2_ENST00000417098.1_Missense_Mutation_p.D553N|SATB2_ENST00000457245.1_Missense_Mutation_p.D553N|SATB2_ENST00000428695.1_Missense_Mutation_p.D435N|SATB2_ENST00000260926.5_Missense_Mutation_p.D553N Q9UPW6 SATB2_HUMAN SATB homeobox 2 553 cytoplasm|nuclear matrix sequence-specific DNA binding transcription factor activity breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(40)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 62 TAGATGACATCCCTCTCATGC 0.592000 58 106 0 0 1 0 0 C8orf34 116328 broad.mit.edu 37 8 69621293 69621293 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:69621293G>A ENST00000337103.4 + 8 2565 c.973G>A c.(973-975)Gaa>Aaa p.E325K C8orf34_ENST00000539993.1_Missense_Mutation_p.E350K|C8orf34_ENST00000518698.1_Missense_Mutation_p.E436K|C8orf34_ENST00000325233.3_Missense_Mutation_p.E94K Q49A92 CH034_HUMAN chromosome 8 open reading frame 34 350 signal transduction cAMP-dependent protein kinase regulator activity NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(12)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 36 Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502) TTCTCCAGATGAAAAAATCCC 0.328000 17 34 0 0 1 0 0 ZSWIM5 57643 broad.mit.edu 37 1 45486410 45486410 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:45486410G>A ENST00000359600.5 - 12 2705 c.2500C>T c.(2500-2502)Cat>Tat p.H834Y NM_020883.1 NP_065934.1 Q9P217 ZSWM5_HUMAN zinc finger, SWIM-type containing 5 834 zinc ion binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|liver(1)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 28 Acute lymphoblastic leukemia(166;0.155) GAGGAAGAATGAATGTGCTTC 0.458000 135 241 0 0 1 0 0 C2orf16 84226 broad.mit.edu 37 2 27800779 27800779 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:27800779C>T ENST00000408964.2 + 1 1391 c.1340C>T c.(1339-1341)tCa>tTa p.S447L NM_032266.3 NP_115642.3 Q68DN1 CB016_HUMAN chromosome 2 open reading frame 16 447 breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1) 47 Acute lymphoblastic leukemia(172;0.155) AGGGAGGTATCAATGGGGCTA 0.463000 6 114 0 0 1 0 0 POSTN 10631 broad.mit.edu 37 13 38158937 38158937 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr13:38158937C>T ENST00000379747.4 - 8 1141 c.1024G>A c.(1024-1026)Gga>Aga p.G342R POSTN_ENST00000379749.4_Missense_Mutation_p.G342R|POSTN_ENST00000541481.1_Missense_Mutation_p.G342R|POSTN_ENST00000379743.4_Missense_Mutation_p.G342R|POSTN_ENST00000541179.1_Missense_Mutation_p.G342R|POSTN_ENST00000379742.4_Missense_Mutation_p.G342R NM_006475.2 NP_006466.2 Q15063 POSTN_HUMAN periostin, osteoblast specific factor 342 FAS1 2. cell adhesion|skeletal system development proteinaceous extracellular matrix heparin binding cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 59 Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743) all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154) ATTTTGATTCCATTTACTGTT 0.378000 4 69 0 0 1 0 0 GPR139 124274 broad.mit.edu 37 16 20043798 20043798 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr16:20043798C>T ENST00000570682.1 - 2 621 c.321G>A c.(319-321)ctG>ctA p.L107L NM_001002911.2 NP_001002911.1 Q6DWJ6 GP139_HUMAN G protein-coupled receptor 139 107 integral to membrane|plasma membrane autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1) 30 ATGAGAATTCCAGCACTTCTA 0.463000 35 48 0 0 1 0 0 ALDH1A2 8854 broad.mit.edu 37 15 58253397 58253397 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr15:58253397G>A ENST00000249750.4 - 11 2114 c.1347C>T c.(1345-1347)gtC>gtT p.V449V ALDH1A2_ENST00000537372.1_Silent_p.V428V|ALDH1A2_ENST00000347587.3_Silent_p.V411V|ALDH1A2_ENST00000559517.1_Silent_p.V353V|ALDH1A2_ENST00000558231.1_Silent_p.V420V NM_003888.3 NP_003879.2 O94788 AL1A2_HUMAN aldehyde dehydrogenase 1 family, member A2 449 negative regulation of cell proliferation|neural tube development|response to cytokine stimulus nucleus 3-chloroallyl aldehyde dehydrogenase activity|retinal binding|retinal dehydrogenase activity NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|prostate(1)|upper_aerodigestive_tract(1) 31 GBM - Glioblastoma multiforme(80;0.152)|all cancers(107;0.18) NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162) CATTAGTAAAGACAGCTGCTA 0.428000 15 46 0 0 1 0 0 TRBV19 28568 broad.mit.edu 37 7 142326847 142326847 + RNA SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:142326847G>A ENST00000390393.3 + 0 353 TTTGAACCACGATGCCATGTA 0.473000 56 309 0 0 1 0 0 OBSCN 84033 broad.mit.edu 37 1 228492876 228492876 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:228492876G>A ENST00000570156.2 + 54 14393 c.14319G>A c.(14317-14319)ggG>ggA p.G4773G OBSCN_ENST00000284548.11_Intron|OBSCN_ENST00000366707.4_Silent_p.G1450G|OBSCN_ENST00000422127.1_Intron|OBSCN_ENST00000366709.4_Intron NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 3816 apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) CCACAGAAGGGGCCACGGCTA 0.572000 57 68 0 0 1 0 0 RP11-24M17.5 0 broad.mit.edu 37 15 76073365 76073365 + RNA SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr15:76073365G>A ENST00000395215.3 + 0 558 TCAAGAATTGGAGCGGGCTCT 0.572000 7 112 0 0 1 0 0 SCRIB 23513 broad.mit.edu 37 8 144885820 144885820 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:144885820G>A ENST00000356994.2 - 23 3417 c.3411C>T c.(3409-3411)tcC>tcT p.S1137S SCRIB_ENST00000377533.3_Silent_p.S1056S|SCRIB_ENST00000320476.3_Silent_p.S1137S NM_182706.4 NP_874365.3 Q14160 SCRIB_HUMAN scribbled planar cell polarity protein 1137 Interaction with ARHGEF7.|PDZ 4. activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction cell-cell adherens junction|Scrib-APC-beta-catenin complex protein binding NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 42 all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18) GGCTCACCTTGGAGATGAAGA 0.716000 4 12 0 0 1 0 0 DLGAP3 58512 broad.mit.edu 37 1 35365316 35365316 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:35365316G>A ENST00000373347.1 - 5 1608 c.1340C>T c.(1339-1341)cCc>cTc p.P447L DLGAP3_ENST00000235180.4_Missense_Mutation_p.P447L O95886 DLGP3_HUMAN discs, large (Drosophila) homolog-associated protein 3 447 cell-cell signaling cell junction|postsynaptic density|postsynaptic membrane central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|prostate(3)|skin(3)|urinary_tract(1) 46 Myeloproliferative disorder(586;0.0393) GGAGCTCCGGGGGTGGATCCG 0.587000 7 164 0 0 1 0 0 CAST 831 broad.mit.edu 37 5 96100940 96100940 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:96100940C>T ENST00000395813.1 + 26 2134 c.1948C>T c.(1948-1950)Ctc>Ttc p.L650F CAST_ENST00000515663.1_Missense_Mutation_p.L290F|CAST_ENST00000508579.1_Missense_Mutation_p.L282F|CAST_ENST00000359176.4_Missense_Mutation_p.L631F|CAST_ENST00000341926.3_Missense_Mutation_p.L567F|CAST_ENST00000309190.5_Missense_Mutation_p.L545F|CAST_ENST00000511049.1_Missense_Mutation_p.L552F|CAST_ENST00000325674.7_Missense_Mutation_p.L615F|CAST_ENST00000348386.3_3'UTR|CAST_ENST00000338252.3_Missense_Mutation_p.L554F|CAST_ENST00000509903.1_Missense_Mutation_p.L532F|CAST_ENST00000510756.1_Missense_Mutation_p.L628F|CAST_ENST00000508830.1_Missense_Mutation_p.L650F|CAST_ENST00000395812.2_Missense_Mutation_p.L609F|CAST_ENST00000511782.1_Missense_Mutation_p.L553F|CAST_ENST00000508608.1_Missense_Mutation_p.L613F|ERAP1_ENST00000296754.3_Intron|CAST_ENST00000504465.1_Missense_Mutation_p.L495F P20810 ICAL_HUMAN calpastatin 567 calcium-dependent cysteine-type endopeptidase inhibitor activity|protein binding p.L545I(1) breast(1)|central_nervous_system(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(5)|ovary(1)|skin(2) 22 all_cancers(142;5.27e-07)|all_epithelial(76;8.21e-10)|all_lung(232;0.000396)|Lung NSC(167;0.000539)|Ovarian(225;0.024)|Colorectal(57;0.0341)|Breast(839;0.244) all cancers(79;6.85e-15) TGACAAAGACCTCGATGATGC 0.403000 57 131 0 0 1 0 0 MAP3K12 7786 broad.mit.edu 37 12 53875903 53875903 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:53875903G>A ENST00000267079.2 - 14 2528 c.2303C>T c.(2302-2304)tCc>tTc p.S768F MAP3K12_ENST00000547488.1_Missense_Mutation_p.S801F|MAP3K12_ENST00000547035.1_Missense_Mutation_p.S801F NM_001193511.1|NM_006301.3 NP_001180440.1|NP_006292.3 Q12852 M3K12_HUMAN mitogen-activated protein kinase kinase kinase 12 768 histone phosphorylation|JNK cascade|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation cytosol|membrane fraction|plasma membrane ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding NS(2)|breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3) 37 GCCACTGGGGGAAGGTTCACT 0.557000 OREG0021873 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 66 131 0 0 1 0 0 PSORS1C1 170679 broad.mit.edu 37 6 31107507 31107507 + Missense_Mutation SNP A A G TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:31107507A>G ENST00000259881.9 + 6 546 c.257A>G c.(256-258)gAt>gGt p.D86G PSORS1C1_ENST00000547221.1_Missense_Mutation_p.D38G|PSORS1C1_ENST00000481450.2_Missense_Mutation_p.D23G NM_014068.2 NP_054787.2 Q9UIG5 PS1C1_HUMAN psoriasis susceptibility 1 candidate 1 86 kidney(1)|ovary(2)|prostate(1)|skin(1) 5 ACACAGGAGGATATCCTGGTT 0.557000 47 113 0 0 1 0 0 SLC19A2 10560 broad.mit.edu 37 1 169446429 169446429 + Silent SNP G G T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:169446429G>T ENST00000236137.5 - 2 1007 c.771C>A c.(769-771)atC>atA p.I257I SLC19A2_ENST00000367804.3_Intron|SLC19A2_ENST00000367802.3_Intron NM_006996.2 NP_008927.1 O60779 S19A2_HUMAN solute carrier family 19 (thiamine transporter), member 2 257 thiamine-containing compound metabolic process integral to membrane|plasma membrane folic acid binding|folic acid transporter activity|reduced folate carrier activity|thiamine uptake transmembrane transporter activity breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|upper_aerodigestive_tract(1) 11 all_hematologic(923;0.208) TATTTAGAGGGATTTTTGACT 0.488000 102 133 9.98717e-52 1.01134e-51 1 1 0 KCNIP1 30820 broad.mit.edu 37 5 170148880 170148880 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:170148880C>T ENST00000328939.4 + 4 837 c.300C>T c.(298-300)acC>acT p.T100T KCNIP1_ENST00000520740.1_Silent_p.T72T|KCNIP1_ENST00000377360.4_Silent_p.T109T|KCNIP1_ENST00000390656.4_Silent_p.T100T|KCNIP1_ENST00000411494.1_Silent_p.T111T|KCNIP1_ENST00000434108.1_Silent_p.T125T NM_001034837.1|NM_014592.2 NP_001030009.1|NP_055407.1 Q9NZI2 KCIP1_HUMAN Kv channel interacting protein 1 111 EF-hand 2. detection of calcium ion|signal transduction|synaptic transmission plasma membrane potassium channel activity|voltage-gated ion channel activity autonomic_ganglia(1)|large_intestine(7)|lung(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 18 Renal(175;0.000159)|Lung NSC(126;0.0191)|all_lung(126;0.0297) Medulloblastoma(196;0.0109)|all_neural(177;0.0177) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) CCTTCGACACCACTCAGACAG 0.547000 46 118 0 0 1 0 0 PLEC 5339 broad.mit.edu 37 8 145004594 145004594 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:145004594G>A ENST00000322810.4 - 20 2995 c.2826C>T c.(2824-2826)ggC>ggT p.G942G PLEC_ENST00000356346.3_Silent_p.G791G|PLEC_ENST00000354589.3_Silent_p.G805G|PLEC_ENST00000398774.2_Silent_p.G773G|PLEC_ENST00000527096.1_Silent_p.G828G|PLEC_ENST00000436759.2_Silent_p.G832G|PLEC_ENST00000354958.2_Silent_p.G783G|PLEC_ENST00000345136.3_Silent_p.G805G|PLEC_ENST00000357649.2_Silent_p.G809G NM_201380.2 NP_958782.1 Q15149 PLEC_HUMAN plectin 942 Globular 1. cellular component disassembly involved in apoptosis|hemidesmosome assembly cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma actin binding|structural constituent of muscle NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10) 137 GGGGCAGGCGGCCCCGCATGG 0.711000 9 8 0 0 1 0 0 OVGP1 5016 broad.mit.edu 37 1 111964063 111964063 + Nonsense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:111964063C>T ENST00000369732.3 - 8 793 c.738G>A c.(736-738)tgG>tgA p.W246* OVGP1_ENST00000540696.1_Intron|OVGP1_ENST00000481495.1_5'UTR NM_002557.3 NP_002548.3 Q12889 OVGP1_HUMAN oviductal glycoprotein 1, 120kDa 246 chitin catabolic process|female pregnancy|single fertilization transport vesicle cation binding|chitinase activity NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1) 39 all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302) Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14) CAAGCTTTCTCCAATAATTCA 0.522000 25 62 0 0 1 0 0 C7 730 broad.mit.edu 37 5 40955557 40955557 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:40955557C>T ENST00000313164.9 + 10 1521 c.1162C>T c.(1162-1164)Ctt>Ttt p.L388F NM_000587.2 NP_000578.2 P10643 CO7_HUMAN complement component 7 388 MACPF. complement activation, alternative pathway|complement activation, classical pathway|cytolysis extracellular region|membrane attack complex Ovarian(839;0.0112) CATATCTGGCCTTAGTTACCT 0.438000 6 212 0 0 1 0 0 FAT4 79633 broad.mit.edu 37 4 126371684 126371684 + Nonsense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:126371684G>A ENST00000394329.3 + 9 9526 c.9513G>A c.(9511-9513)tgG>tgA p.W3171* FAT4_ENST00000335110.5_Nonsense_Mutation_p.W1469* NM_024582.4 NP_078858.4 Q6V0I7 FAT4_HUMAN FAT atypical cadherin 4 3171 Cadherin 30. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6) 355 ATGGAGGATGGGTTGCAAGAA 0.393000 8 110 0 0 1 0 0 LRRC18 474354 broad.mit.edu 37 10 50122135 50122135 + Silent SNP G G A rs143949072 byFrequency TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:50122135G>A ENST00000374160.3 - 1 142 c.66C>T c.(64-66)atC>atT p.I22I LRRC18_ENST00000298124.3_Silent_p.I22I|WDFY4_ENST00000413659.2_Intron|WDFY4_ENST00000325239.5_Intron|RP11-523O18.7_ENST00000430438.1_RNA NM_001006939.3 NP_001006940.3 Q8N456 LRC18_HUMAN leucine rich repeat containing 18 22 cytoplasm NS(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1) 18 AAGTGATTTTGATGCAATTCC 0.463000 27 59 0 0 1 0 0 TENM1 10178 broad.mit.edu 37 X 124029998 124029998 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chrX:124029998C>T ENST00000422452.2 - 2 373 c.310G>A c.(310-312)Gga>Aga p.G104R TENM1_ENST00000371130.3_Missense_Mutation_p.G104R NM_001163278.1|NM_001163279.1 NP_001156750.1|NP_001156751.1 teneurin transmembrane protein 1 ACATCAGATCCCATCTCTAGC 0.488000 95 56 0 0 1 0 0 XKR6 286046 broad.mit.edu 37 8 10782294 10782294 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:10782294C>T ENST00000416569.2 - 2 837 c.811G>A c.(811-813)Gaa>Aaa p.E271K XKR6_ENST00000304437.2_5'UTR NM_173683.3 NP_775954.2 Q5GH73 XKR6_HUMAN XK, Kell blood group complex subunit-related family, member 6 271 integral to membrane breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(8)|ovary(2)|prostate(1)|skin(3) 31 Lung(29;0.0407)|COAD - Colon adenocarcinoma(149;0.0555) CGCTGGTGTTCCTTCCGCCGC 0.587000 45 108 0 0 1 0 0 DNAH7 56171 broad.mit.edu 37 2 196699017 196699017 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:196699017C>T ENST00000312428.6 - 48 9113 c.9013G>A c.(9013-9015)Gaa>Aaa p.E3005K NM_018897.2 NP_061720.2 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 3005 AAA 5 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3) 205 TTGGCTTTTTCCATGTTCTTG 0.408000 33 68 0 0 1 0 0 DCDC1 341019 broad.mit.edu 37 11 31123748 31123748 + Missense_Mutation SNP C C A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:31123748C>A ENST00000597505.1 - 13 1958 c.1959G>T c.(1957-1959)ttG>ttT p.L653F DCDC1_ENST00000437348.1_5'UTR P59894 DCDC1_HUMAN doublecortin domain containing 1 0 intracellular signal transduction central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1) 31 Lung SC(675;0.225) AATGGTTCTCCAAGTCCACCT 0.343000 5 8 1 1 1 1 0 AKNA 80709 broad.mit.edu 37 9 117118409 117118409 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:117118409C>T ENST00000307564.4 - 14 3015 c.2854G>A c.(2854-2856)Gga>Aga p.G952R AKNA_ENST00000223791.3_Missense_Mutation_p.G412R|AKNA_ENST00000374088.3_Missense_Mutation_p.G952R|AKNA_ENST00000374075.5_Missense_Mutation_p.G871R NM_030767.4 NP_110394.3 Q7Z591 AKNA_HUMAN AT-hook transcription factor 952 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding breast(3)|central_nervous_system(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(7)|liver(2)|lung(22)|ovary(4)|stomach(2) 51 GCTAATGTTCCTGCTGTGCTG 0.597000 34 70 0 0 1 0 0 NUPR1 26471 broad.mit.edu 37 16 28550164 28550164 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr16:28550164G>A ENST00000324873.6 - 1 331 c.65C>T c.(64-66)tCc>tTc p.S22F NUPR1_ENST00000395641.2_Missense_Mutation_p.S22F NM_001042483.1|NM_012385.2 NP_001035948.1|NP_036517.1 O60356 NUPR1_HUMAN nuclear protein, transcriptional regulator, 1 22 cell growth|induction of apoptosis nucleus breast(1)|large_intestine(1)|lung(1) 3 ATCCAGGCTGGAGTCCTCGTC 0.622000 28 56 0 0 1 0 0 TACC2 10579 broad.mit.edu 37 10 123846951 123846951 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:123846951G>A ENST00000369005.1 + 4 5276 c.4936G>A c.(4936-4938)Gcc>Acc p.A1646T TACC2_ENST00000358010.1_Intron|TACC2_ENST00000515603.1_Missense_Mutation_p.A1646T|TACC2_ENST00000334433.3_Missense_Mutation_p.A1646T|TACC2_ENST00000515273.1_Missense_Mutation_p.A1646T|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000453444.2_Missense_Mutation_p.A1646T NM_206862.2 NP_996744.2 O95359 TACC2_HUMAN transforming, acidic coiled-coil containing protein 2 1646 microtubule organizing center|nucleus nuclear hormone receptor binding NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 83 all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197) TGTGCCTGAGGCCAACAGTGA 0.592000 24 63 0 0 1 0 0 GPR98 84059 broad.mit.edu 37 5 90449089 90449089 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:90449089C>T ENST00000405460.2 + 89 18772 c.18676C>T c.(18676-18678)Cct>Tct p.P6226S GPR98_ENST00000425867.2_Missense_Mutation_p.P1887S NM_032119.3 NP_115495.3 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 6226 cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6) 269 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) TCAGGCCAGCCCTGATTTAAA 0.512000 8 15 0 0 1 0 0 THBS1 7057 broad.mit.edu 37 15 39876223 39876223 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr15:39876223G>A ENST00000260356.5 + 5 903 c.738G>A c.(736-738)gtG>gtA p.V246V NM_003246.2 NP_003237.2 P07996 TSP1_HUMAN thrombospondin 1 246 activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of caspase activity|negative regulation of cGMP-mediated signaling|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 53 all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223) GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105) Becaplermin(DB00102) ACAACAACGTGGTGAATGGTT 0.483000 OREG0023051 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 26 38 0 0 1 0 0 PCSK5 5125 broad.mit.edu 37 9 78938019 78938019 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:78938019C>T ENST00000545128.1 + 31 4611 c.4073C>T c.(4072-4074)cCc>cTc p.P1358L NM_001190482.1 NP_001177411.1 Q92824 PCSK5_HUMAN proprotein convertase subtilisin/kexin type 5 623 anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release extracellular space|Golgi lumen|stored secretory granule peptide binding|serine-type endopeptidase activity NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 55 CAGTCCTGTCCCCGTGGCTTC 0.582000 9 23 0 0 1 0 0 PTPRO 5800 broad.mit.edu 37 12 15673196 15673196 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:15673196G>A ENST00000281171.4 + 10 2171 c.1841G>A c.(1840-1842)gGa>gAa p.G614E PTPRO_ENST00000348962.2_Missense_Mutation_p.G614E NM_030667.2 NP_109592.1 Q16827 PTPRO_HUMAN protein tyrosine phosphatase, receptor type, O 614 integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1) 74 Hepatocellular(102;0.244) GTGACGTGGGGAGATCCAGAA 0.483000 57 94 0 0 1 0 0 ERP27 121506 broad.mit.edu 37 12 15091429 15091429 + Missense_Mutation SNP G G A rs141046253 TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:15091429G>A ENST00000266397.2 - 1 587 c.14C>T c.(13-15)cCg>cTg p.P5L NM_152321.2 NP_689534.1 Q96DN0 ERP27_HUMAN endoplasmic reticulum protein 27 5 endoplasmic reticulum lumen breast(2)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(4)|lung(3)|prostate(2)|skin(1) 19 GAACCTGGACGGGGCAGCTTC 0.522000 9 23 0 0 1 0 0 TMEM44 93109 broad.mit.edu 37 3 194346659 194346659 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:194346659G>A ENST00000392432.2 - 3 530 c.325C>T c.(325-327)Cca>Tca p.P109S TMEM44_ENST00000381975.3_Missense_Mutation_p.P109S|TMEM44_ENST00000347147.4_Missense_Mutation_p.P109S|TMEM44_ENST00000330115.3_Missense_Mutation_p.P6S|TMEM44_ENST00000273580.7_Missense_Mutation_p.P109S|TMEM44_ENST00000473092.1_Missense_Mutation_p.P109S NM_001166305.1 NP_001159777.1 Q2T9K0 TMM44_HUMAN transmembrane protein 44 109 integral to membrane breast(1)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|urinary_tract(1) 8 all_cancers(143;1.41e-08)|Ovarian(172;0.0634) OV - Ovarian serous cystadenocarcinoma(49;4.34e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;9.06e-06) CCACAGACTGGGAAGAGAATG 0.453000 53 120 0 0 1 0 0 BDP1 55814 broad.mit.edu 37 5 70805816 70805816 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:70805816C>T ENST00000358731.4 + 17 3160 c.2897C>T c.(2896-2898)cCa>cTa p.P966L BDP1_ENST00000380675.2_5'UTR NM_018429.2 NP_060899.2 A6H8Y1 BDP1_HUMAN B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB 966 9 X 55 AA repeats of G-R-R-X-I-S-P-X-E-N- G-X-E-E-V-K-P-X-X-E-M-E-T-D-L-K-X-T-G-R- E-X-X-X-R-E-K-T-X-E-X-X-D-A-X-E-E-I-D-X- D-L-E-E-T. regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter nucleoplasm DNA binding NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 72 Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50) GAGAGTTCCCCAAGGGAGAAG 0.448000 43 104 0 0 1 0 0 PCDH11X 27328 broad.mit.edu 37 X 91134158 91134158 + Silent SNP G G C TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chrX:91134158G>C ENST00000373094.1 + 2 3764 c.2919G>C c.(2917-2919)gtG>gtC p.V973V PCDH11X_ENST00000361724.1_Silent_p.V973V|PCDH11X_ENST00000373088.1_Silent_p.V973V|PCDH11X_ENST00000373097.1_Silent_p.V973V|PCDH11X_ENST00000395337.2_Silent_p.V973V|PCDH11X_ENST00000361655.2_Silent_p.V973V|PCDH11X_ENST00000298274.8_Silent_p.V973V|PCDH11X_ENST00000406881.1_Silent_p.V973V|PCDH11X_ENST00000504220.1_Silent_p.V973V NM_032968.3 NP_116750.1 Q9BZA7 PC11X_HUMAN protocadherin 11 X-linked 973 homophilic cell adhesion integral to plasma membrane calcium ion binding NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 159 ACACCTTTGTGGCCTGTGACT 0.512000 17 143 0 0 1 0 0 NBPF10 100132406 broad.mit.edu 37 1 145293484 145293484 + Nonsense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:145293484C>T ENST00000342960.5 + 1 114 c.79C>T c.(79-81)Cag>Tag p.Q27* RP11-458D21.5_ENST00000468030.1_3'UTR|NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Nonsense_Mutation_p.Q27* NM_001039703.4 NP_001034792.4 A6NDV3 A6NDV3_HUMAN neuroblastoma breakpoint family, member 10 27 NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2) 73 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) ATTGCGCCCCCAGCTGGCAGA 0.493000 103 1232 0 0 1 0 0 PITRM1 10531 broad.mit.edu 37 10 3202097 3202097 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:3202097G>A ENST00000380989.2 - 9 988 c.950C>T c.(949-951)tCa>tTa p.S317L PITRM1_ENST00000451104.2_Missense_Mutation_p.S285L|PITRM1-AS1_ENST00000598280.1_RNA|PITRM1_ENST00000224949.4_Missense_Mutation_p.S317L|PITRM1-AS1_ENST00000601046.1_RNA NM_001242307.1|NM_014889.3 NP_001229236.1|NP_055704.2 E7ES23 E7ES23_HUMAN pitrilysin metallopeptidase 1 285 proteolysis metalloendopeptidase activity|zinc ion binding breast(2)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|urinary_tract(3) 33 TGTAGCAAATGAATCCGGGCC 0.438000 6 13 0 0 1 0 0 TCHHL1 126637 broad.mit.edu 37 1 152059495 152059495 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:152059495G>A ENST00000368806.1 - 3 727 c.663C>T c.(661-663)ccC>ccT p.P221P NM_001008536.1 NP_001008536.1 Q5QJ38 TCHL1_HUMAN trichohyalin-like 1 221 calcium ion binding p.P221P(2) breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1) 60 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.246) TCCTCTCTGTGGGACTGCTGG 0.448000 54 70 0 0 1 0 0 ARMC5 79798 broad.mit.edu 37 16 31471138 31471138 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr16:31471138C>T ENST00000457010.2 + 1 994 c.293C>T c.(292-294)tCg>tTg p.S98L ARMC5_ENST00000563544.1_Missense_Mutation_p.S98L|ARMC5_ENST00000538189.1_Missense_Mutation_p.S130L|ARMC5_ENST00000268314.4_Missense_Mutation_p.S98L|ARMC5_ENST00000408912.3_Missense_Mutation_p.S193L NM_024742.2 NP_079018.1 Q96C12 ARMC5_HUMAN armadillo repeat containing 5 98 binding central_nervous_system(1)|endometrium(4)|large_intestine(3)|liver(2)|lung(12)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 28 TCGGCCGCGTCGGGAGCTTCT 0.771000 6 20 0 0 1 0 0 GUCY2C 2984 broad.mit.edu 37 12 14798199 14798199 + Missense_Mutation SNP C C A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:14798199C>A ENST00000261170.3 - 16 1897 c.1761G>T c.(1759-1761)tgG>tgT p.W587C NM_004963.3 NP_004954.2 P25092 GUC2C_HUMAN guanylate cyclase 2C (heat stable enterotoxin receptor) 587 Protein kinase. intracellular signal transduction|receptor guanylyl cyclase signaling pathway integral to membrane ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1) 51 TCTTAAACTCCCAATCCATGA 0.318000 26 93 1.16021e-09 1.16665e-09 1 1 0 CLTCL1 8218 broad.mit.edu 37 22 19217452 19217452 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr22:19217452G>A ENST00000263200.10 - 11 1763 c.1691C>T c.(1690-1692)tCc>tTc p.S564F CLTCL1_ENST00000353891.5_Missense_Mutation_p.S564F|CLTCL1_ENST00000427926.1_Missense_Mutation_p.S564F NM_007098.3 NP_009029.3 P53675 CLH2_HUMAN clathrin, heavy chain-like 1 564 Distal segment.|Heavy chain arm. anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network protein binding|signal transducer activity|structural molecule activity breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 49 Colorectal(54;0.0993) CAATAAGAAGGAAGTACACTG 0.428000 T ? ALCL 5 27 0 0 1 0 0 OR4C15 81309 broad.mit.edu 37 11 55322643 55322643 + Nonsense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:55322643G>A ENST00000314644.2 + 1 861 c.861G>A c.(859-861)tgG>tgA p.W287* NM_001001920.1 NP_001001920.1 Q8NGM1 OR4CF_HUMAN olfactory receptor, family 4, subfamily C, member 15 233 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5) 56 AAGGGCGCTGGAAAGCTCTCT 0.443000 HNSCC(20;0.049) 70 147 0 0 1 0 0 BCR 613 broad.mit.edu 37 22 23656802 23656802 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr22:23656802C>T ENST00000305877.8 + 22 4378 c.3627C>T c.(3625-3627)ccC>ccT p.P1209P BCR_ENST00000359540.3_Silent_p.P1165P|BCR_ENST00000436990.2_3'UTR NM_004327.3 NP_004318.3 P11274 BCR_HUMAN breakpoint cluster region 1209 Rho-GAP. regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol ATP binding|GTPase activator activity|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity BCR/JAK2(6) central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1) 35 TCTTTGGCCCCACGCTGCTCC 0.607000 T """ABL1, FGFR1, JAK2 """ """CML, ALL, AML""" 6 75 0 0 1 0 0 KALRN 8997 broad.mit.edu 37 3 124351323 124351323 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:124351323C>T ENST00000360013.3 + 35 5360 c.5233C>T c.(5233-5235)Ctg>Ttg p.L1745L KALRN_ENST00000428018.2_Silent_p.L48L|KALRN_ENST00000393496.1_Silent_p.L118L|KALRN_ENST00000291478.4_Silent_p.L48L NM_001024660.3 NP_001019831.2 O60229 KALRN_HUMAN kalirin, RhoGEF kinase 1745 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport actin cytoskeleton|cytosol ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 83 CGTGGCCAACCTGCAGGCCCA 0.582000 26 86 0 0 1 0 0 OR4L1 122742 broad.mit.edu 37 14 20528638 20528638 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr14:20528638G>A ENST00000315683.1 + 1 435 c.435G>A c.(433-435)gcG>gcA p.A145A NM_001004717.1 NP_001004717.1 Q8NH43 OR4L1_HUMAN olfactory receptor, family 4, subfamily L, member 1 145 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(16)|ovary(2)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 all_cancers(95;0.00108) Epithelial(56;4.65e-07)|all cancers(55;2.9e-06) GBM - Glioblastoma multiforme(265;0.0064) AGGGGTTTGCGATACTTTCAT 0.388000 50 105 0 0 1 0 0 CCDC105 126402 broad.mit.edu 37 19 15124579 15124579 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:15124579C>T ENST00000292574.3 + 2 748 c.666C>T c.(664-666)gtC>gtT p.V222V NM_173482.2 NP_775753.2 Q8IYK2 CC105_HUMAN coiled-coil domain containing 105 222 microtubule cytoskeleton organization microtubule NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(4)|skin(2) 23 AATCAGAGGTCCTACTCAAGG 0.507000 12 30 0 0 1 0 0 CCDC64 92558 broad.mit.edu 37 12 120510351 120510351 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:120510351C>T ENST00000397558.2 + 6 1126 c.1126C>T c.(1126-1128)Cgc>Tgc p.R376C CCDC64_ENST00000257583.4_Missense_Mutation_p.R25C|CCDC64_ENST00000446727.2_Intron NM_207311.2 NP_997194.2 Q6ZP65 BICR1_HUMAN coiled-coil domain containing 64 376 Golgi to secretory granule transport|neuron projection development centrosome dynactin binding|Rab GTPase binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 22 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) CTGCCAGGTTCGCTATCTGTG 0.522000 51 96 0 0 1 0 0 PREX1 57580 broad.mit.edu 37 20 47351148 47351148 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr20:47351148G>A ENST00000396220.1 - 4 476 c.454C>T c.(454-456)Cat>Tat p.H152Y PREX1_ENST00000371941.3_Missense_Mutation_p.H152Y Q8TCU6 PREX1_HUMAN phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1 152 DH. actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process cytosol|plasma membrane enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 110 BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198) GCTTTCTCATGGTTGCTGCAA 0.572000 70 156 0 0 1 0 0 AQP7 364 broad.mit.edu 37 9 33395104 33395104 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:33395104G>A ENST00000539936.1 - 3 354 c.116C>T c.(115-117)gCc>gTc p.A39V AQP7_ENST00000537089.1_5'UTR|AQP7_ENST00000377425.4_Intron|AQP7_ENST00000541274.1_5'UTR O14520 AQP7_HUMAN aquaporin 7 39 excretion|generation of precursor metabolites and energy cell-cell junction|cytoplasm|integral to plasma membrane glycerol channel activity|water channel activity NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1) 17 LUSC - Lung squamous cell carcinoma(29;0.00788) GBM - Glioblastoma multiforme(74;0.191) CATGAACTCGGCCAGGAACTC 0.582000 5 109 0 0 1 0 0 GJA8 2703 broad.mit.edu 37 1 147380909 147380909 + Missense_Mutation SNP C C T rs45619342 TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:147380909C>T ENST00000240986.4 + 2 880 c.827C>T c.(826-828)tCc>tTc p.S276F GJA8_ENST00000369235.1_Missense_Mutation_p.S276F NM_005267.4 NP_005258.2 P48165 CXA8_HUMAN gap junction protein, alpha 8, 50kDa 276 cell communication|visual perception connexon complex|integral to plasma membrane channel activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1) 37 all_hematologic(923;0.0276) AAAATCGTTTCCCACTATTTC 0.542000 66 91 0 0 1 0 0 HIST1H3B 8358 broad.mit.edu 37 6 26031950 26031950 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:26031950G>A ENST00000244661.2 - 1 338 c.339C>T c.(337-339)atC>atT p.I113I NM_003537.3 NP_003528.1 P68431 H31_HUMAN histone cluster 1, H3b 113 blood coagulation|nucleosome assembly|regulation of gene silencing|S phase nucleoplasm|nucleosome DNA binding|protein binding breast(3)|central_nervous_system(10)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(1) 25 GCTTAGCATGGATGGCGCAAA 0.517000 43 144 0 0 1 0 0 ZNF365 22891 broad.mit.edu 37 10 64414640 64414640 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:64414640C>T ENST00000395251.1 + 3 410 c.76C>T c.(76-78)Cct>Tct p.P26S ZNF365_ENST00000410046.3_Intron|ZNF365_ENST00000395249.1_Intron NM_199452.3 NP_955524.3 Q70YC4 TALAN_HUMAN zinc finger protein 365 26 breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 27 Prostate(12;0.0297)|all_hematologic(501;0.228) agataaaaatccttgcctgca 0.443000 48 121 0 0 1 0 0 SIGLEC1 6614 broad.mit.edu 37 20 3670649 3670649 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr20:3670649G>A ENST00000344754.4 - 18 4853 c.4854C>T c.(4852-4854)gtC>gtT p.V1618V SIGLEC1_ENST00000202578.4_Silent_p.V1618V NM_023068.3 NP_075556.1 Q9BZZ2 SN_HUMAN sialic acid binding Ig-like lectin 1, sialoadhesin 1618 Ig-like C2-type 16. cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response extracellular region|integral to membrane|plasma membrane sugar binding p.V1618V(1) NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1) 70 CAGAGCCCAGGACATTTGAGG 0.607000 9 18 0 0 1 0 0 AUTS2 26053 broad.mit.edu 37 7 70255251 70255251 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:70255251G>A ENST00000342771.4 + 19 3370 c.3049G>A c.(3049-3051)Ggg>Agg p.G1017R AUTS2_ENST00000406775.2_Missense_Mutation_p.G993R NM_015570.2 NP_056385.1 Q8WXX7 AUTS2_HUMAN autism susceptibility candidate 2 1017 breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1) 50 all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093) LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186) CGTGCACCCGGGGCCCCTGGC 0.677000 37 41 0 0 1 0 0 ROM1 6094 broad.mit.edu 37 11 62382162 62382162 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:62382162G>A ENST00000278833.3 + 3 1448 c.907G>A c.(907-909)Gga>Aga p.G303R ROM1_ENST00000534093.1_Silent_p.R93R NM_000327.3 NP_000318.1 Q03395 ROM1_HUMAN retinal outer segment membrane protein 1 303 cell adhesion|visual perception integral to plasma membrane central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1) 8 CATTGATGCGGGAGGAGAGAC 0.597000 35 97 0 0 1 0 0 PRSS48 345062 broad.mit.edu 37 4 152203369 152203369 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:152203369G>A ENST00000455694.2 + 3 287 c.285G>A c.(283-285)gtG>gtA p.V95V PRSS48_ENST00000441586.2_Intron|SH3D19_ENST00000604030.1_Intron NM_183375.2 NP_899231.2 Q7RTY5 PRS48_HUMAN protease, serine, 48 95 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity kidney(1)|large_intestine(2)|lung(2)|prostate(2)|urinary_tract(1) 8 GGAAACGTGTGAAGTACTACG 0.463000 93 231 0 0 1 0 0 TEX11 56159 broad.mit.edu 37 X 69773225 69773225 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chrX:69773225G>A ENST00000395889.2 - 28 2530 c.2375C>T c.(2374-2376)gCt>gTt p.A792V TEX11_ENST00000374333.2_Missense_Mutation_p.A777V|TEX11_ENST00000374320.2_Missense_Mutation_p.A467V|TEX11_ENST00000344304.3_Missense_Mutation_p.A792V NM_001003811.1 NP_001003811.1 Q8IYF3 TEX11_HUMAN testis expressed 11 792 protein binding breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(13)|ovary(3)|prostate(3)|skin(3) 48 Renal(35;0.156) GGCCTTGAGAGCAATCAAAGG 0.363000 19 19 0 0 1 0 0 SLC4A7 9497 broad.mit.edu 37 3 27436557 27436557 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:27436557G>A ENST00000295736.5 - 19 2796 c.2726C>T c.(2725-2727)cCt>cTt p.P909L SLC4A7_ENST00000428386.1_Missense_Mutation_p.P785L|SLC4A7_ENST00000454389.1_Missense_Mutation_p.P918L|SLC4A7_ENST00000446700.1_Missense_Mutation_p.P901L|SLC4A7_ENST00000425128.2_3'UTR|SLC4A7_ENST00000455077.1_Missense_Mutation_p.P790L|SLC4A7_ENST00000388777.4_Missense_Mutation_p.P459L|SLC4A7_ENST00000435667.2_Missense_Mutation_p.P794L|SLC4A7_ENST00000440156.1_Missense_Mutation_p.P905L|SLC4A7_ENST00000437179.1_Missense_Mutation_p.P790L|SLC4A7_ENST00000445684.1_Missense_Mutation_p.P905L NM_003615.4 NP_003606.3 Q9Y6M7 S4A7_HUMAN solute carrier family 4, sodium bicarbonate cotransporter, member 7 909 apical plasma membrane|basolateral plasma membrane|integral to membrane|stereocilium inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(9)|ovary(4)|skin(1) 38 GGTCCACCAAGGATTATCTCC 0.368000 26 50 0 0 1 0 0 MORC1 27136 broad.mit.edu 37 3 108819266 108819266 + Silent SNP T T C TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:108819266T>C ENST00000232603.5 - 5 394 c.312A>G c.(310-312)aaA>aaG p.K104K MORC1_ENST00000483760.1_Silent_p.K104K NM_014429.3 NP_055244.3 Q86VD1 MORC1_HUMAN MORC family CW-type zinc finger 1 104 cell differentiation|multicellular organismal development|spermatogenesis nucleus ATP binding|zinc ion binding breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3) 105 ATTCTCACCTTTTAAGACCAT 0.358000 43 97 0 0 1 0 0 FREM1 158326 broad.mit.edu 37 9 14750128 14750128 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:14750128C>T ENST00000380881.4 - 31 6372 c.5557G>A c.(5557-5559)Gga>Aga p.G1853R FREM1_ENST00000422223.2_Missense_Mutation_p.G1852R|FREM1_ENST00000380894.1_Missense_Mutation_p.G388R|FREM1_ENST00000380880.3_Missense_Mutation_p.G1852R Q5H8C1 FREM1_HUMAN FRAS1 related extracellular matrix 1 1852 cell communication|multicellular organismal development basement membrane|integral to membrane metal ion binding|sugar binding breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 GBM - Glioblastoma multiforme(50;3.53e-06) AGAATACCTCCTTTTGAGTCC 0.433000 53 51 0 0 1 0 0 LRRC43 254050 broad.mit.edu 37 12 122677343 122677343 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:122677343G>A ENST00000339777.4 + 7 1169 c.1141G>A c.(1141-1143)Gag>Aag p.E381K LRRC43_ENST00000425921.1_Missense_Mutation_p.E196K NM_152759.4 NP_689972.3 Q8N309 LRC43_HUMAN leucine rich repeat containing 43 381 Glu-rich. NS(1)|endometrium(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(2) 19 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000312)|Epithelial(86;0.000539)|BRCA - Breast invasive adenocarcinoma(302;0.225) ATCTCCTGAAGAGGTCGTGGA 0.512000 44 87 0 0 1 0 0 ZNF385D 79750 broad.mit.edu 37 3 21552353 21552353 + Splice_Site SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:21552353C>T ENST00000281523.2 - 4 957 c.439_splice c.e4+1 p.D147_splice ZNF385D_ENST00000494118.1_5'UTR NM_024697.2 NP_078973.1 Q9H6B1 Z385D_HUMAN zinc finger protein 385D 147 Thr-rich. nucleus nucleic acid binding|zinc ion binding NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4) 46 ATTGCTTAACCTGTTTTGTCA 0.448000 30 91 0 0 1 0 0 DLGAP3 58512 broad.mit.edu 37 1 35351114 35351114 + Silent SNP G G T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:35351114G>T ENST00000373347.1 - 7 2147 c.1879C>A c.(1879-1881)Cgg>Agg p.R627R DLGAP3_ENST00000235180.4_Silent_p.R627R O95886 DLGP3_HUMAN discs, large (Drosophila) homolog-associated protein 3 627 cell-cell signaling cell junction|postsynaptic density|postsynaptic membrane central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|prostate(3)|skin(3)|urinary_tract(1) 46 Myeloproliferative disorder(586;0.0393) TTCCGCTGCCGCGCCAGGCTC 0.716000 15 37 1.55795e-14 1.57021e-14 1 1 0 SNX9 51429 broad.mit.edu 37 6 158330810 158330810 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:158330810G>A ENST00000392185.3 + 8 990 c.819G>A c.(817-819)caG>caA p.Q273Q NM_016224.3 NP_057308.1 Q9Y5X1 SNX9_HUMAN sorting nexin 9 273 PX. cell communication|intracellular protein transport|lipid tube assembly|positive regulation of GTPase activity|positive regulation of protein oligomerization|receptor-mediated endocytosis clathrin-coated vesicle|cytoplasmic vesicle membrane|extrinsic to internal side of plasma membrane|ruffle|trans-Golgi network 1-phosphatidylinositol binding|protein homodimerization activity|ubiquitin protein ligase binding central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|upper_aerodigestive_tract(1) 20 Breast(66;0.000776)|Ovarian(120;0.0303)|Prostate(117;0.167) OV - Ovarian serous cystadenocarcinoma(65;8.06e-18)|BRCA - Breast invasive adenocarcinoma(81;4.48e-05) TCGAATATCAGCTAACACCTA 0.413000 4 156 0 0 1 0 0 PROSER1 80209 broad.mit.edu 37 13 39588309 39588309 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr13:39588309G>A ENST00000352251.3 - 11 1913 c.1080C>T c.(1078-1080)tcC>tcT p.S360S PROSER1_ENST00000350125.3_Silent_p.S338S|PROSER1_ENST00000484434.2_Intron NM_025138.3 NP_079414.3 Q86XN7 CM023_HUMAN proline and serine rich 1 360 Pro-rich. CAGAAAAAATGGAAGGAACAG 0.532000 35 62 0 0 1 0 0 CDH20 28316 broad.mit.edu 37 18 59195293 59195293 + Nonsense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr18:59195293C>T ENST00000262717.4 + 7 1509 c.1111C>T c.(1111-1113)Cag>Tag p.Q371* CDH20_ENST00000538374.1_Nonsense_Mutation_p.Q371*|CDH20_ENST00000536675.2_Nonsense_Mutation_p.Q371* Q9HBT6 CAD20_HUMAN cadherin 20, type 2 371 Cadherin 3. Q -> R (in dbSNP:rs35923922). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3) 61 Colorectal(73;0.186) GGGCCCATTTCAGGACACAAC 0.498000 39 78 0 0 1 0 0 TLR4 7099 broad.mit.edu 37 9 120470847 120470847 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:120470847C>T ENST00000355622.6 + 2 201 c.100C>T c.(100-102)Cct>Tct p.P34S TLR4_ENST00000472304.1_Intron|TLR4_ENST00000394487.4_5'UTR NM_138554.4|NM_138557.2 NP_612564.1|NP_612567.1 O00206 TLR4_HUMAN toll-like receptor 4 34 activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm lipopolysaccharide receptor activity|transmembrane receptor activity p.P34S(1) breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1) 103 GCAGGTGGTTCCTAATATTAC 0.463000 37 90 0 0 1 0 0 CD163 9332 broad.mit.edu 37 12 7651778 7651778 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:7651778G>A ENST00000359156.4 - 4 666 c.464C>T c.(463-465)tCc>tTc p.S155F CD163_ENST00000432237.2_Missense_Mutation_p.S155F|CD163_ENST00000396620.3_Missense_Mutation_p.S155F|CD163_ENST00000541972.1_Missense_Mutation_p.S143F NM_004244.5 NP_004235.4 Q86VB7 C163A_HUMAN CD163 molecule 155 acute-phase response extracellular region|integral to plasma membrane protein binding|scavenger receptor activity breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4) 76 TTCCAAATTGGATCCATCTGG 0.408000 20 224 0 0 1 0 0 TRIM7 81786 broad.mit.edu 37 5 180622229 180622229 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:180622229C>T ENST00000393315.1 - 7 1546 c.849G>A c.(847-849)caG>caA p.Q283Q TRIM7_ENST00000274773.7_Silent_p.Q491Q|TRIM7_ENST00000393319.3_Silent_p.Q309Q|TRIM7_ENST00000504241.1_5'UTR|TRIM7_ENST00000361809.3_Silent_p.Q283Q|TRIM7_ENST00000422067.2_Silent_p.Q283Q NM_203296.1 NP_976041.1 Q9C029 TRIM7_HUMAN tripartite motif containing 7 491 cytoplasm|nucleus zinc ion binding NS(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)|stomach(1) 17 all_cancers(89;6.03e-06)|all_epithelial(37;7.1e-07)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684) all_cancers(40;0.000172)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;2e-06)|Epithelial(171;1.35e-05)|OV - Ovarian serous cystadenocarcinoma(192;0.000128)|Kidney(146;0.0674)|GBM - Glioblastoma multiforme(465;0.0802) ACACGCGCTCCTGGAAGTTGA 0.642000 14 29 0 0 1 0 0 USP34 9736 broad.mit.edu 37 2 61566548 61566548 + Silent SNP A A G TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:61566548A>G ENST00000398571.2 - 18 2758 c.2682T>C c.(2680-2682)ttT>ttC p.F894F NM_014709.3 NP_055524.3 Q70CQ2 UBP34_HUMAN ubiquitin specific peptidase 34 894 positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2) 138 Epithelial(17;0.229) GTCTATCTGTAAACCAACATA 0.284000 30 50 0 0 1 0 0 MLXIPL 51085 broad.mit.edu 37 7 73020240 73020240 + Splice_Site SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:73020240C>T ENST00000313375.3 - 6 867 c.820_splice c.e6+1 p.A274_splice MLXIPL_ENST00000434326.1_Splice_Site_p.A181_splice|MLXIPL_ENST00000429400.2_Splice_Site_p.A274_splice|MLXIPL_ENST00000414749.2_Splice_Site_p.A274_splice|MLXIPL_ENST00000395189.1_Splice_Site_p.A181_splice|MLXIPL_ENST00000354613.1_Splice_Site_p.A274_splice NM_032951.2|NM_032953.2 NP_116569.1|NP_116571.1 Q9NP71 WBS14_HUMAN MLX interacting protein-like 274 anatomical structure morphogenesis|energy reserve metabolic process|glucose mediated signaling pathway|intracellular protein kinase cascade|negative regulation of cell cycle arrest|negative regulation of oxidative phosphorylation|negative regulation of peptidyl-serine phosphorylation|positive regulation of cell proliferation|positive regulation of fatty acid biosynthetic process|positive regulation of glycolysis|positive regulation of transcription from RNA polymerase II promoter|triglyceride homeostasis cytosol|transcription factor complex carbohydrate response element binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding cervix(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 13 Lung NSC(55;0.0659)|all_lung(88;0.152) AGACCCTCACCATCCTCAGGC 0.622000 9 18 0 0 1 0 0 OR5H2 79310 broad.mit.edu 37 3 98001750 98001750 + Nonsense_Mutation SNP G G T rs149978587 TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:98001750G>T ENST00000355273.2 + 1 19 c.19G>T c.(19-21)Gaa>Taa p.E7* RP11-325B23.2_ENST00000508616.1_lincRNA NM_001005482.1 NP_001005482.1 Q8NGV7 OR5H2_HUMAN olfactory receptor, family 5, subfamily H, member 2 7 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(1)|large_intestine(5)|lung(13)|ovary(3)|upper_aerodigestive_tract(1) 24 TGAGGACATGGAACAGGATAA 0.408000 70 159 1.52808e-22 1.54487e-22 1 1 0 TMEM119 338773 broad.mit.edu 37 12 108985557 108985557 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:108985557C>T ENST00000392806.3 - 2 771 c.603G>A c.(601-603)gaG>gaA p.E201E NM_181724.2 NP_859075.2 Q4V9L6 TM119_HUMAN transmembrane protein 119 201 integral to membrane large_intestine(2)|lung(3)|ovary(1)|skin(1) 7 CGCCCCTGCCCTCCACCATCC 0.692000 37 62 0 0 1 0 0 KRTAP5-1 387264 broad.mit.edu 37 11 1605815 1605815 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:1605815G>A ENST00000382171.2 - 1 698 c.665C>T c.(664-666)tCt>tTt p.S222F KRTAP5-AS1_ENST00000424148.1_RNA|KRTAP5-AS1_ENST00000534077.1_RNA|KRTAP5-AS1_ENST00000532922.1_RNA|KRTAP5-AS1_ENST00000524947.1_RNA NM_001005922.1 NP_001005922.1 Q6L8H4 KRA51_HUMAN keratin associated protein 5-1 222 8 X 4 AA repeats of C-C-X-P. keratin filament endometrium(3)|kidney(1)|lung(9)|skin(2)|upper_aerodigestive_tract(1) 16 all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082) CCCCGCGCAAGAGCCACAACT 0.632000 46 71 0 0 1 0 0 ZNF770 54989 broad.mit.edu 37 15 35274183 35274183 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr15:35274183G>A ENST00000356321.4 - 3 1797 c.1453C>T c.(1453-1455)Cct>Tct p.P485S NM_014106.3 NP_054825.2 Q6IQ21 ZN770_HUMAN zinc finger protein 770 485 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(11)|ovary(1) 29 Lung NSC(122;4.59e-10)|all_lung(180;8.78e-09) all cancers(64;1.97e-18)|GBM - Glioblastoma multiforme(113;2.11e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0643) GATATAGAAGGAAATACCTTC 0.363000 6 82 0 0 1 0 0 CD93 22918 broad.mit.edu 37 20 23065129 23065129 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr20:23065129G>A ENST00000246006.4 - 1 1848 c.1701C>T c.(1699-1701)tcC>tcT p.S567S NM_012072.3 NP_036204.2 Q9NPY3 C1QR1_HUMAN CD93 molecule 567 cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis plasma membrane calcium ion binding|complement component C1q binding|receptor activity|sugar binding NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118) GTGTGGCCACGGAGGAGTCCC 0.637000 42 121 0 0 1 0 0 SYNE1 23345 broad.mit.edu 37 6 152676112 152676112 + Splice_Site SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:152676112C>T ENST00000367255.5 - 67 11210 c.e67-1 SYNE1_ENST00000265368.4_Splice_Site|SYNE1_ENST00000423061.1_Splice_Site|SYNE1_ENST00000448038.1_Splice_Site|SYNE1_ENST00000341594.5_Splice_Site NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19) 524 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) CCTGTAGCTCCTGCAGAGAAA 0.517000 HNSCC(10;0.0054) 6 159 0 0 1 0 0 LRRN4CL 221091 broad.mit.edu 37 11 62455485 62455485 + Nonsense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:62455485G>A ENST00000317449.4 - 2 973 c.496C>T c.(496-498)Cag>Tag p.Q166* NM_203422.2 NP_981967.1 Q8ND94 LRN4L_HUMAN LRRN4 C-terminal like 166 Fibronectin type-III. integral to membrane cervix(1)|kidney(1) 2 CCTCCAGCCTGGGGCACGCGG 0.701000 15 35 0 0 1 0 0 FREM2 341640 broad.mit.edu 37 13 39452366 39452366 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr13:39452366G>A ENST00000280481.7 + 22 8983 c.8767G>A c.(8767-8769)Gct>Act p.A2923T NM_207361.4 NP_997244.3 Q5SZK8 FREM2_HUMAN FRAS1 related extracellular matrix protein 2 2923 cell communication|homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2) 148 Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114) all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312) ATGCACTGGAGCTGATGGCTA 0.423000 59 104 0 0 1 0 0 CRTAC1 55118 broad.mit.edu 37 10 99655110 99655110 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:99655110C>T ENST00000370597.3 - 11 1733 c.1378G>A c.(1378-1380)Gga>Aga p.G460R CRTAC1_ENST00000370591.2_Missense_Mutation_p.G460R|CRTAC1_ENST00000298819.4_Missense_Mutation_p.G460R NM_018058.6 NP_060528.3 Q9NQ79 CRAC1_HUMAN cartilage acidic protein 1 460 proteinaceous extracellular matrix calcium ion binding autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(6)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1) 35 Colorectal(252;0.24) Epithelial(162;2.18e-10)|all cancers(201;3.27e-09) ACCTTAGCTCCCCTGGCAAAG 0.622000 34 67 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179430071 179430071 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:179430071C>T ENST00000589042.1 - 326 81012 c.80788G>A c.(80788-80790)Gaa>Aaa p.E26930K TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E17990K|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E25289K|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E24362K|TTN_ENST00000460472.2_Missense_Mutation_p.E17865K|TTN_ENST00000342175.6_Missense_Mutation_p.E18057K|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 25289 Fibronectin type-III 96. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GTAGCTGTTTCTTCAACGTTT 0.393000 58 132 0 0 1 0 0 GRIK3 2899 broad.mit.edu 37 1 37356632 37356632 + Nonsense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:37356632G>A ENST00000373091.3 - 2 197 c.181C>T c.(181-183)Cga>Tga p.R61* GRIK3_ENST00000373093.4_Nonsense_Mutation_p.R61* NM_000831.3 NP_000822.2 Q13003 GRIK3_HUMAN glutamate receptor, ionotropic, kainate 3 61 negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1) 89 Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169) L-Glutamic Acid(DB00142) GCAGAAAATCGAAAGGCATGC 0.502000 95 168 0 0 1 0 0 CSH1 1442 broad.mit.edu 37 17 61973514 61973514 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:61973514G>A ENST00000329882.8 - 2 162 c.92C>T c.(91-93)cCc>cTc p.P31L CSH1_ENST00000453363.3_Missense_Mutation_p.P31L|CSH1_ENST00000316193.8_Missense_Mutation_p.P31L P01243 CSH_HUMAN chorionic somatomammotropin hormone 1 (placental lactogen) 31 female pregnancy|signal transduction extracellular region hormone activity|metal ion binding central_nervous_system(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1) 8 CCTGGATAAGGGAACGGTTTG 0.602000 Russell-Silver syndrome 4 4 0 0 1 0 0 GABRA2 2555 broad.mit.edu 37 4 46263943 46263943 + Splice_Site SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:46263943C>T ENST00000510861.1 - 9 1232 c.1059_splice c.e9+1 p.K353_splice GABRA2_ENST00000381620.4_Splice_Site_p.K353_splice|GABRA2_ENST00000507069.1_Splice_Site_p.K353_splice|GABRA2_ENST00000356504.1_Splice_Site_p.K353_splice|GABRA2_ENST00000514090.1_Splice_Site_p.K353_splice|GABRA2_ENST00000540012.1_Splice_Site_p.K298_splice|GABRA2_ENST00000515082.1_Silent_p.K353K P47869 GBRA2_HUMAN gamma-aminobutyric acid (GABA) A receptor, alpha 2 353 gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 56 Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) TCTCACTTACCTTGTCATTTA 0.358000 32 65 0 0 1 0 0 IPO8 10526 broad.mit.edu 37 12 30805971 30805971 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:30805971G>A ENST00000256079.4 - 18 2342 c.2004C>T c.(2002-2004)tcC>tcT p.S668S IPO8_ENST00000544829.1_Silent_p.S463S NM_006390.3 NP_006381.2 O15397 IPO8_HUMAN importin 8 668 intracellular protein transport|signal transduction cytoplasm|nucleus protein transporter activity|Ran GTPase binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(16)|liver(1)|lung(22)|prostate(2)|skin(2)|urinary_tract(2) 52 all_lung(12;6.66e-10)|Lung NSC(12;4.84e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233) ACATTTGAGGGGAAATACTGT 0.353000 10 100 0 0 1 0 0 TNC 3371 broad.mit.edu 37 9 117852938 117852938 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:117852938C>T ENST00000350763.4 - 2 771 c.360G>A c.(358-360)aaG>aaA p.K120K TNC_ENST00000542877.1_Silent_p.K120K|TNC_ENST00000537320.1_Silent_p.K120K|TNC_ENST00000341037.4_Silent_p.K120K|TNC_ENST00000345230.3_Silent_p.K120K|TNC_ENST00000423613.2_Silent_p.K120K|TNC_ENST00000535648.1_Silent_p.K120K|TNC_ENST00000340094.3_Silent_p.K120K|TNC_ENST00000346706.3_Silent_p.K120K NM_002160.3 NP_002151.2 P24821 TENA_HUMAN tenascin C 120 cell adhesion|response to wounding|signal transduction extracellular space receptor binding|syndecan binding NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 120 TCAGCAGCTCCTTAACATCAG 0.587000 6 470 0 0 1 0 0 ZNF384 171017 broad.mit.edu 37 12 6788638 6788638 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:6788638G>A ENST00000396795.1 - 2 546 c.49C>T c.(49-51)Ccc>Tcc p.P17S ZNF384_ENST00000319770.3_Missense_Mutation_p.P17S|ZNF384_ENST00000355772.4_Missense_Mutation_p.P17S|ZNF384_ENST00000361959.3_Missense_Mutation_p.P17S|ZNF384_ENST00000396799.2_Missense_Mutation_p.P17S|ZNF384_ENST00000396801.3_Missense_Mutation_p.P17S Q8TF68 ZN384_HUMAN zinc finger protein 384 17 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding EWSR1/ZNF384(4) breast(3)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(1) 18 GAGACTGTGGGGATAGAAGGC 0.433000 T """EWSR1, TAF15 """ ALL 15 52 0 0 1 0 0 C1orf50 79078 broad.mit.edu 37 1 43241028 43241028 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:43241028C>T ENST00000372525.5 + 5 606 c.563C>T c.(562-564)cCg>cTg p.P188L C1orf50_ENST00000536543.1_5'UTR|C1orf50_ENST00000468913.2_3'UTR NM_024097.3 NP_077002.2 Q9BV19 CA050_HUMAN chromosome 1 open reading frame 50 188 large_intestine(2)|ovary(1)|pancreas(1) 4 Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) GCCCTGCCTCCGTGCACTGAA 0.537000 20 36 0 0 1 0 0 GPR111 222611 broad.mit.edu 37 6 47649965 47649965 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:47649965C>T ENST00000398742.2 + 5 1515 c.1466C>T c.(1465-1467)tCa>tTa p.S489L GPR111_ENST00000507065.1_Missense_Mutation_p.S489L|GPR111_ENST00000296862.1_Missense_Mutation_p.S557L Q8IZF7 GP111_HUMAN G protein-coupled receptor 111 557 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(15)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 29 TTGCCCAAGTCAGTCCTGGTG 0.458000 38 99 0 0 1 0 0 C15orf27 123591 broad.mit.edu 37 15 76484392 76484392 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr15:76484392G>A ENST00000388942.3 + 9 1128 c.852G>A c.(850-852)ccG>ccA p.P284P NM_152335.2 NP_689548.2 Q2M3C6 CO027_HUMAN chromosome 15 open reading frame 27 284 integral to membrane endometrium(1)|large_intestine(1)|lung(10)|pancreas(1) 13 TCCAGGCCCCGCACGTGCTCA 0.721000 5 21 0 0 1 0 0 EHMT2 10919 broad.mit.edu 37 6 31855683 31855683 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:31855683C>T ENST00000395728.3 - 13 1971 c.1972G>A c.(1972-1974)Gac>Aac p.D658N EHMT2_ENST00000375537.4_Missense_Mutation_p.D601N|EHMT2_ENST00000375530.4_Missense_Mutation_p.D567N|EHMT2_ENST00000480912.1_5'UTR|EHMT2_ENST00000375528.4_Missense_Mutation_p.D624N Q96KQ7 EHMT2_HUMAN euchromatic histone-lysine N-methyltransferase 2 601 DNA methylation|peptidyl-lysine dimethylation chromosome|nucleus histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding central_nervous_system(1)|cervix(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1) 21 TCAATGGTGTCAGCCAGGGGA 0.682000 40 80 0 0 1 0 0 CYFIP2 26999 broad.mit.edu 37 5 156788579 156788579 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:156788579C>T ENST00000347377.6 + 26 3443 c.3012C>T c.(3010-3012)ctC>ctT p.L1004L CYFIP2_ENST00000435847.2_Silent_p.L703L|CYFIP2_ENST00000442283.2_3'UTR|CYFIP2_ENST00000522463.1_Silent_p.L808L|CYFIP2_ENST00000377576.3_Silent_p.L1004L|CYFIP2_ENST00000318218.6_Silent_p.L1029L|CYFIP2_ENST00000521420.1_Silent_p.L978L|CYFIP2_ENST00000541131.1_Silent_p.L929L NM_001037332.2 NP_001032409.2 Q96F07 CYFP2_HUMAN cytoplasmic FMR1 interacting protein 2 1029 apoptosis|cell-cell adhesion cell junction|perinuclear region of cytoplasm|synapse|synaptosome protein binding breast(1)|endometrium(12)|kidney(2)|lung(23) 38 Renal(175;0.00212) Medulloblastoma(196;0.0306)|all_neural(177;0.0897) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) ATGCCATCCTCTTCTGCCTCC 0.542000 25 48 0 0 1 0 0 FAM71A 149647 broad.mit.edu 37 1 212798324 212798324 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:212798324G>A ENST00000294829.3 + 1 536 c.105G>A c.(103-105)ggG>ggA p.G35G RP11-338C15.5_ENST00000427949.1_RNA NM_153606.3 NP_705834.2 Q8IYT1 FA71A_HUMAN family with sequence similarity 71, member A 35 breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(7)|liver(1)|lung(12)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 OV - Ovarian serous cystadenocarcinoma(81;0.00631)|all cancers(67;0.00981)|GBM - Glioblastoma multiforme(131;0.0715)|Epithelial(68;0.094) TGTACAAGGGGGAGTACGATA 0.483000 56 79 0 0 1 0 0 SLCO2A1 6578 broad.mit.edu 37 3 133666155 133666155 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:133666155G>A ENST00000310926.4 - 9 1513 c.1240C>T c.(1240-1242)Cct>Tct p.P414S SLCO2A1_ENST00000493729.1_Missense_Mutation_p.P338S NM_005630.2 NP_005621.2 Q92959 SO2A1_HUMAN solute carrier organic anion transporter family, member 2A1 414 sodium-independent organic anion transport integral to plasma membrane|membrane fraction prostaglandin transmembrane transporter activity|protein binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(2) 30 AAGAACAAAGGAACACAAAGG 0.498000 6 91 0 0 1 0 0 OR6V1 346517 broad.mit.edu 37 7 142749488 142749488 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:142749488C>T ENST00000418316.1 + 1 72 c.51C>T c.(49-51)tcC>tcT p.S17S NM_001001667.1 NP_001001667.1 Q8N148 OR6V1_HUMAN olfactory receptor, family 6, subfamily V, member 1 17 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|upper_aerodigestive_tract(1) 20 Melanoma(164;0.059) GCTTCTCCTCCTTTGGTGAGC 0.507000 102 207 0 0 1 0 0 NPNT 255743 broad.mit.edu 37 4 106863742 106863742 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:106863742G>A ENST00000379987.2 + 8 1258 c.1042G>A c.(1042-1044)Gaa>Aaa p.E348K NPNT_ENST00000453617.2_Missense_Mutation_p.E365K|NPNT_ENST00000427316.2_Missense_Mutation_p.E378K|NPNT_ENST00000305572.8_Missense_Mutation_p.E348K|NPNT_ENST00000514622.1_Missense_Mutation_p.E348K|NPNT_ENST00000506666.1_Missense_Mutation_p.E378K NM_001033047.2 NP_001028219.1 Q6UXI9 NPNT_HUMAN nephronectin 348 Pro-rich. cell differentiation membrane calcium ion binding kidney(5)|large_intestine(2)|lung(10)|prostate(2)|skin(1)|urinary_tract(1) 21 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;5.41e-07) TACAACCCCAGAAAGGCCAAC 0.532000 33 95 0 0 1 0 0 SSTR1 6751 broad.mit.edu 37 14 38678620 38678620 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr14:38678620C>T ENST00000267377.2 + 3 643 c.26C>T c.(25-27)tCt>tTt p.S9F NM_001049.2 NP_001040.1 P30872 SSR1_HUMAN somatostatin receptor 1 9 digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation|response to nutrient integral to plasma membrane somatostatin receptor activity breast(1)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 29 Hepatocellular(127;0.213)|Esophageal squamous(585;0.22) Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187) GBM - Glioblastoma multiforme(112;0.00444) Octreotide(DB00104) ACCGCCTCCTCTCCTTCCTCC 0.756000 4 21 0 0 1 0 0 CYP4F2 8529 broad.mit.edu 37 19 16000433 16000433 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:16000433G>A ENST00000221700.5 - 7 813 c.718C>T c.(718-720)Ctc>Ttc p.L240F CYP4F2_ENST00000592328.1_Missense_Mutation_p.L240F|CYP4F2_ENST00000011989.7_Missense_Mutation_p.L91F NM_001082.3 NP_001073.3 P78329 CP4F2_HUMAN cytochrome P450, family 4, subfamily F, polypeptide 2 240 leukotriene metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 46 ATATGCAGGAGGATCTCATGG 0.532000 64 133 0 0 1 0 0 RNF212 285498 broad.mit.edu 37 4 1073463 1073463 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:1073463C>T ENST00000382968.5 - 8 575 c.478G>A c.(478-480)Gaa>Aaa p.E160K RNF212_ENST00000433731.2_Missense_Mutation_p.E160K NM_001131034.3|NM_194439.4 NP_001124506.1|NP_919420.1 Q495C1 RN212_HUMAN ring finger protein 212 160 zinc ion binding endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1) 10 OV - Ovarian serous cystadenocarcinoma(23;0.0179) UCEC - Uterine corpus endometrioid carcinoma (64;0.151) AGATCAACTTCCATCGACTCC 0.443000 27 59 0 0 1 0 0 NOP14 8602 broad.mit.edu 37 4 2955286 2955286 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:2955286G>A ENST00000416614.2 - 5 764 c.699C>T c.(697-699)tcC>tcT p.S233S NOP14_ENST00000502735.1_Silent_p.S233S|NOP14-AS1_ENST00000503709.1_RNA|NOP14_ENST00000398071.4_Silent_p.S233S|NOP14_ENST00000314262.6_Silent_p.S233S P78316 NOP14_HUMAN NOP14 nucleolar protein 233 endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA) mitochondrion|Noc4p-Nop14p complex|small-subunit processome snoRNA binding NS(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(12)|pancreas(1)|skin(1)|urinary_tract(1) 30 GAGTTTTGTGGGACAGGAGAG 0.483000 9 336 0 0 1 0 0 MYO3B 140469 broad.mit.edu 37 2 171092559 171092559 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:171092559C>T ENST00000334231.6 + 7 689 c.689C>T c.(688-690)tCc>tTc p.S230F MYO3B_ENST00000408978.4_Missense_Mutation_p.S221F|MYO3B_ENST00000602629.1_3'UTR|MYO3B_ENST00000409044.3_Missense_Mutation_p.S221F Q8WXR4 MYO3B_HUMAN myosin IIIB 221 Protein kinase. response to stimulus|visual perception cytoplasm|myosin complex actin binding|ATP binding|motor activity|protein serine/threonine kinase activity breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 59 GACGTCTGGTCCTTGGGGATC 0.493000 OREG0014376 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 69 115 0 0 1 0 0 DNAJC22 79962 broad.mit.edu 37 12 49745228 49745228 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:49745228C>T ENST00000549441.2 + 4 2173 c.969C>T c.(967-969)atC>atT p.I323I DNAJC22_ENST00000395069.3_Silent_p.I323I Q8N4W6 DJC22_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 22 323 J. protein folding integral to membrane heat shock protein binding|unfolded protein binding breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|liver(2)|lung(1)|ovary(1)|pancreas(1) 10 TCCTGGAGATCCAGGCTGCGT 0.552000 8 54 0 0 1 0 0 WDR78 79819 broad.mit.edu 37 1 67306281 67306281 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:67306281C>T ENST00000371026.3 - 9 1420 c.1365G>A c.(1363-1365)aaG>aaA p.K455K WDR78_ENST00000431318.1_Silent_p.K201K|WDR78_ENST00000371023.3_Silent_p.K455K NM_024763.4 NP_079039.4 Q5VTH9 WDR78_HUMAN WD repeat domain 78 455 Glu-rich. NS(1)|endometrium(3)|kidney(6)|large_intestine(6)|lung(10)|ovary(3)|skin(3) 32 CTTCCTCCTCCTTCTTAGATT 0.383000 10 109 0 0 1 0 0 PBX1 5087 broad.mit.edu 37 1 164769010 164769010 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:164769010G>A ENST00000420696.2 + 4 773 c.585G>A c.(583-585)aaG>aaA p.K195K PBX1_ENST00000559240.1_Silent_p.K195K|PBX1_ENST00000540236.1_Silent_p.K195K|PBX1_ENST00000540246.1_Silent_p.K90K|PBX1_ENST00000367897.1_Silent_p.K195K|PBX1_ENST00000401534.1_Silent_p.K195K|PBX1_ENST00000560641.1_Silent_p.K90K NM_001204961.1|NM_001204963.1|NM_002585.3 NP_001191890.1|NP_001191892.1|NP_002576.1 P40424 PBX1_HUMAN pre-B-cell leukemia homeobox 1 195 negative regulation of sequence-specific DNA binding transcription factor activity|sex differentiation|steroid biosynthetic process cytoplasm|nucleus sequence-specific DNA binding transcription factor activity|transcription factor binding EWSR1/PBX1(3) large_intestine(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1) 4 TCTCCCCAAAGGAGATTGAGC 0.582000 T """TCF3, EWSR1""" """pre B-ALL, myoepithelioma""" 8 99 0 0 1 0 0 MYH4 4622 broad.mit.edu 37 17 10353906 10353906 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:10353906C>T ENST00000255381.2 - 30 4155 c.4045G>A c.(4045-4047)Gaa>Aaa p.E1349K CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA NM_017533.2 NP_060003.2 Q9Y623 MYH4_HUMAN myosin, heavy chain 4, skeletal muscle 1349 muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 149 TCATACTGTTCCCGCAGCAGG 0.547000 61 86 0 0 1 0 0 VWA8 23078 broad.mit.edu 37 13 42393372 42393372 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr13:42393372G>A ENST00000379310.3 - 15 1919 c.1851C>T c.(1849-1851)atC>atT p.I617I VWA8_ENST00000281496.6_Silent_p.I617I NM_015058.1 NP_055873.1 von Willebrand factor A domain containing 8 TAATCACTTGGATTTCTTCAC 0.383000 18 45 0 0 1 0 0 SIX4 51804 broad.mit.edu 37 14 61180412 61180412 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr14:61180412C>T ENST00000216513.4 - 3 2118 c.2059G>A c.(2059-2061)Gaa>Aaa p.E687K NM_017420.4 NP_059116.3 Q9UIU6 SIX4_HUMAN SIX homeobox 4 687 nucleus breast(5)|endometrium(1)|large_intestine(11)|liver(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 OV - Ovarian serous cystadenocarcinoma(108;0.0275) GGAACTATTTCCCCAAGGGCA 0.473000 25 35 0 0 1 0 0 TG 7038 broad.mit.edu 37 8 133894199 133894199 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:133894199G>A ENST00000220616.4 + 6 770 c.730G>A c.(730-732)Gaa>Aaa p.E244K TG_ENST00000377869.1_Missense_Mutation_p.E244K NM_003235.4 NP_003226.4 P01266 THYG_HUMAN thyroglobulin 244 Thyroglobulin type-1 3. hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation extracellular space hormone activity NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8) 168 Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735) BRCA - Breast invasive adenocarcinoma(115;0.000701) KIRC - Kidney renal clear cell carcinoma(542;0.0546) CCAAGGGCGGGAACTGGCTGA 0.517000 6 88 0 0 1 0 0 ACVR1B 91 broad.mit.edu 37 12 52345561 52345561 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:52345561C>T ENST00000257963.4 + 1 111 c.34C>T c.(34-36)Ccc>Tcc p.P12S ACVR1B_ENST00000426655.2_Missense_Mutation_p.P12S|ACVR1B_ENST00000415850.2_Missense_Mutation_p.P12S|ACVR1B_ENST00000541224.1_Missense_Mutation_p.P12S NM_004302.4|NM_020328.3 NP_004293.1|NP_064733.3 P36896 ACV1B_HUMAN activin A receptor, type IB 12 G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|peptidyl-threonine phosphorylation|positive regulation of activin receptor signaling pathway|positive regulation of erythrocyte differentiation|protein autophosphorylation|transmembrane receptor protein serine/threonine kinase signaling pathway cell surface activin receptor activity, type I|ATP binding|metal ion binding|SMAD binding|transforming growth factor beta receptor activity|ubiquitin protein ligase binding breast(5)|endometrium(4)|kidney(5)|large_intestine(12)|lung(10)|ovary(1)|pancreas(6)|prostate(1) 44 BRCA - Breast invasive adenocarcinoma(357;0.104) Adenosine triphosphate(DB00171) CTCCTTCTTCCCCCTTGTTGT 0.796000 4 17 0 0 1 0 0 MYCBP2 23077 broad.mit.edu 37 13 77672794 77672794 + Missense_Mutation SNP G G C TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr13:77672794G>C ENST00000407578.2 - 56 8761 c.8495C>G c.(8494-8496)tCt>tGt p.S2832C MYCBP2_ENST00000482517.1_5'UTR|MYCBP2_ENST00000544440.2_Missense_Mutation_p.S2794C|MYCBP2_ENST00000360084.5_Missense_Mutation_p.S317C|MYCBP2_ENST00000357337.6_Missense_Mutation_p.S2794C NM_015057.4 NP_055872.4 O75592 MYCB2_HUMAN MYC binding protein 2, E3 ubiquitin protein ligase 2794 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ligase activity|protein binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 118 Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22) GBM - Glioblastoma multiforme(99;0.109) CGATGGGCTAGACCTATTGGC 0.493000 5 69 0 0 1 0 0 DCLK2 166614 broad.mit.edu 37 4 151169478 151169478 + Nonsense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:151169478C>T ENST00000296550.7 + 14 2651 c.1897C>T c.(1897-1899)Cag>Tag p.Q633* DCLK2_ENST00000506325.1_Nonsense_Mutation_p.Q632*|DCLK2_ENST00000302176.8_Nonsense_Mutation_p.Q650* NM_001040260.3 NP_001035350.2 Q8N568 DCLK2_HUMAN doublecortin-like kinase 2 633 Protein kinase. intracellular signal transduction cytoplasm|cytoskeleton ATP binding|protein serine/threonine kinase activity breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(1) 26 all_hematologic(180;0.151) TCAAATGCTTCAGGTAAATGT 0.458000 9 103 0 0 1 0 0 TRMT10C 54931 broad.mit.edu 37 3 101283794 101283794 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:101283794C>T ENST00000309922.6 + 2 323 c.169C>T c.(169-171)Cct>Tct p.P57S NM_017819.2 NP_060289.2 tRNA methyltransferase 10 homolog C (S. cerevisiae) GAGTACACCCCCTTCTGAAGA 0.368000 34 148 0 0 1 0 0 SBSPON 157869 broad.mit.edu 37 8 73993429 73993429 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:73993429C>T ENST00000297354.6 - 2 438 c.234G>A c.(232-234)ggG>ggA p.G78G SBSPON_ENST00000519697.1_5'UTR NM_153225.3 NP_694957.3 Q8IVN8 RPESP_HUMAN somatomedin B and thrombospondin, type 1 domain containing 78 TSP type-1. immune response extracellular region polysaccharide binding|scavenger receptor activity GGCTCCATTCCCCCACGAAGC 0.627000 50 71 0 0 1 0 0 BAHCC1 57597 broad.mit.edu 37 17 79414165 79414165 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:79414165C>T ENST00000307745.7 + 15 3267 c.3267C>T c.(3265-3267)acC>acT p.T1089T TGCAAACCACCGCCCCGGGGG 0.677000 25 88 0 0 1 0 0 XYLB 9942 broad.mit.edu 37 3 38417658 38417658 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:38417658C>T ENST00000207870.3 + 13 1145 c.1055C>T c.(1054-1056)tCc>tTc p.S352F XYLB_ENST00000542835.1_Missense_Mutation_p.S215F NM_005108.3 NP_005099.2 O75191 XYLB_HUMAN xylulokinase homolog (H. influenzae) 352 D-xylose metabolic process|generation of precursor metabolites and energy|xylulose catabolic process ATP binding|xylulokinase activity endometrium(3)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(1)|prostate(1) 24 KIRC - Kidney renal clear cell carcinoma(284;0.00372)|Kidney(284;0.00405) GAGTCTGTATCCCGTTCCTGG 0.562000 106 236 0 0 1 0 0 FANK1 92565 broad.mit.edu 37 10 127697982 127697982 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:127697982G>A ENST00000368695.1 + 11 1117 c.995G>A c.(994-996)aGg>aAg p.R332K FANK1_ENST00000477963.1_3'UTR|FANK1_ENST00000368693.1_Missense_Mutation_p.R338K NM_145235.3 NP_660278.3 Q8TC84 FANK1_HUMAN fibronectin type III and ankyrin repeat domains 1 338 cytoplasm|nucleus central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(10)|ovary(1)|urinary_tract(1) 21 all_lung(145;0.00752)|Lung NSC(174;0.0115)|Colorectal(57;0.0847)|all_neural(114;0.0936) AAAAAGCAGAGGCCAAAGAAG 0.418000 24 55 0 0 1 0 0 WFDC12 128488 broad.mit.edu 37 20 43752574 43752574 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr20:43752574C>T ENST00000372785.3 - 3 266 c.249G>A c.(247-249)aaG>aaA p.K83K NM_080869.1 NP_543145.1 Q8WWY7 WFD12_HUMAN WAP four-disulfide core domain 12 83 defense response to bacterium extracellular region serine-type endopeptidase inhibitor activity endometrium(1)|large_intestine(2)|lung(2)|skin(1) 6 Myeloproliferative disorder(115;0.0122) catcttcatccttgtttcctc 0.537000 18 19 0 0 1 0 0 SAE1 10055 broad.mit.edu 37 19 47673173 47673173 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:47673173C>T ENST00000413379.3 + 6 828 c.726C>T c.(724-726)ctC>ctT p.L242L SAE1_ENST00000392776.3_Silent_p.L242L|SAE1_ENST00000598840.1_Silent_p.L161L|SAE1_ENST00000540850.1_Silent_p.L68L|SAE1_ENST00000270225.7_Silent_p.L242L NM_001145713.1 NP_001139185.1 Q9UBE0 SAE1_HUMAN SUMO1 activating enzyme subunit 1 242 protein sumoylation|protein ubiquitination nucleus ATP-dependent protein binding|enzyme activator activity|ligase activity|protein C-terminus binding|protein heterodimerization activity|ubiquitin activating enzyme activity endometrium(3)|large_intestine(5)|lung(4)|ovary(1) 13 all_cancers(25;1.13e-05)|all_lung(116;0.000192)|all_epithelial(76;0.000274)|Lung NSC(112;0.000446)|all_neural(266;0.0652)|Ovarian(192;0.15) all cancers(93;0.00013)|OV - Ovarian serous cystadenocarcinoma(262;0.000146)|Epithelial(262;0.00697)|GBM - Glioblastoma multiforme(486;0.0278) ACTACTTTCTCCTTCAAGGTG 0.507000 58 73 0 0 1 0 0 ARHGEF7 8874 broad.mit.edu 37 13 111935676 111935676 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr13:111935676C>T ENST00000375741.2 + 17 2229 c.1979C>T c.(1978-1980)cCc>cTc p.P660L ARHGEF7_ENST00000370623.3_Missense_Mutation_p.P567L|ARHGEF7_ENST00000426073.2_Missense_Mutation_p.P482L|ARHGEF7_ENST00000375723.1_Missense_Mutation_p.P482L|ARHGEF7_ENST00000317133.5_Missense_Mutation_p.P639L|ARHGEF7_ENST00000375736.4_Missense_Mutation_p.P482L|ARHGEF7_ENST00000375739.2_Missense_Mutation_p.P610L|ARHGEF7_ENST00000218789.5_Missense_Mutation_p.P482L|ARHGEF7_ENST00000375737.5_Missense_Mutation_p.P557L|ARHGEF7_ENST00000478679.1_Missense_Mutation_p.P404L NM_001113511.1|NM_145735.2 NP_001106983.1|NP_663788.1 Q14155 ARHG7_HUMAN Rho guanine nucleotide exchange factor (GEF) 7 660 apoptosis|epidermal growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol protein binding|Rho guanyl-nucleotide exchange factor activity breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1) 41 all_lung(23;3.96e-05)|Lung NSC(43;0.00156)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163) BRCA - Breast invasive adenocarcinoma(86;0.188) CCCGCGCCTCCCCTCCGGCCC 0.672000 6 4 0 0 1 0 0 TENM1 10178 broad.mit.edu 37 X 123517879 123517879 + Missense_Mutation SNP A A T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chrX:123517879A>T ENST00000422452.2 - 30 6965 c.6902T>A c.(6901-6903)cTg>cAg p.L2301Q STAG2_ENST00000469481.1_Intron|TENM1_ENST00000371130.3_Missense_Mutation_p.L2294Q NM_001163278.1|NM_001163279.1 NP_001156750.1|NP_001156751.1 teneurin transmembrane protein 1 ATCATAATACAGAGATGTAAT 0.438000 94 46 0 0 1 0 0 NXPE2 120406 broad.mit.edu 37 11 114568887 114568887 + Missense_Mutation SNP A A G TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:114568887A>G ENST00000375475.5 + 3 351 c.253A>G c.(253-255)Aag>Gag p.K85E NXPE2_ENST00000389586.4_Missense_Mutation_p.K85E neurexophilin and PC-esterase domain family, member 2 ACTTAGAATAAAGGACATTAT 0.448000 25 18 0 0 1 0 0 ENOPH1 58478 broad.mit.edu 37 4 83372355 83372355 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:83372355C>T ENST00000273920.3 + 3 614 c.346C>T c.(346-348)Cac>Tac p.H116Y ENOPH1_ENST00000509635.1_Missense_Mutation_p.H28Y NM_021204.3 NP_067027.1 Q9UHY7 ENOPH_HUMAN enolase-phosphatase 1 116 L-methionine salvage from methylthioadenosine cytoplasm|nucleus 2,3-diketo-5-methylthiopentyl-1-phosphate enolase activity|2-hydroxy-3-keto-5-methylthiopentenyl-1-phosphate phosphatase activity|acireductone synthase activity|magnesium ion binding|phosphoglycolate phosphatase activity central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|skin(1) 13 GCTGCAGGGCCACATGTGGAG 0.498000 20 43 0 0 1 0 0 MYCBP2 23077 broad.mit.edu 37 13 77672776 77672776 + Missense_Mutation SNP C C G TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr13:77672776C>G ENST00000407578.2 - 56 8779 c.8513G>C c.(8512-8514)aGt>aCt p.S2838T MYCBP2_ENST00000482517.1_5'UTR|MYCBP2_ENST00000544440.2_Missense_Mutation_p.S2800T|MYCBP2_ENST00000360084.5_Missense_Mutation_p.S323T|MYCBP2_ENST00000357337.6_Missense_Mutation_p.S2800T NM_015057.4 NP_055872.4 O75592 MYCB2_HUMAN MYC binding protein 2, E3 ubiquitin protein ligase 2800 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ligase activity|protein binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 118 Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22) GBM - Glioblastoma multiforme(99;0.109) GCGTGGAGAACTAGCACCCGA 0.493000 5 84 0 0 1 0 0 COL22A1 169044 broad.mit.edu 37 8 139729082 139729082 + Missense_Mutation SNP G G C TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:139729082G>C ENST00000303045.6 - 28 2832 c.2386C>G c.(2386-2388)Cga>Gga p.R796G COL22A1_ENST00000435777.1_Missense_Mutation_p.R796G|COL22A1_ENST00000341807.4_5'UTR NM_152888.1 NP_690848.1 Q8NFW1 COMA1_HUMAN collagen, type XXII, alpha 1 796 Collagen-like 6.|Gly-rich.|Pro-rich. cell adhesion collagen|cytoplasm structural molecule activity breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4) 211 all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0517) TCTCCAGGTCGGCCTGCCAGG 0.383000 HNSCC(7;0.00092) 14 39 0 0 1 0 0 TCHHL1 126637 broad.mit.edu 37 1 152059846 152059846 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:152059846C>T ENST00000368806.1 - 3 376 c.312G>A c.(310-312)aaG>aaA p.K104K NM_001008536.1 NP_001008536.1 Q5QJ38 TCHL1_HUMAN trichohyalin-like 1 104 calcium ion binding breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1) 60 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.246) CTAGCTTCTCCTTCTCTGGTT 0.413000 7 164 0 0 1 0 0 VPS33A 65082 broad.mit.edu 37 12 122717404 122717404 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:122717404G>A ENST00000267199.4 - 12 1664 c.1552C>T c.(1552-1554)Ctc>Ttc p.L518F RP11-512M8.5_ENST00000535844.1_Missense_Mutation_p.L479F NM_022916.4 NP_075067.2 Q96AX1 VP33A_HUMAN vacuolar protein sorting 33 homolog A (S. cerevisiae) 518 lysosome localization|melanosome localization|platelet formation|protein transport|regulation of developmental pigmentation|vesicle docking involved in exocytosis early endosome|late endosome membrane|lysosomal membrane|perinuclear region of cytoplasm protein binding NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(13)|ovary(1)|skin(2) 28 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000336)|Epithelial(86;0.000606)|BRCA - Breast invasive adenocarcinoma(302;0.23) GGCCCTGGGAGGATGCGGAGG 0.587000 22 62 0 0 1 0 0 RGS22 26166 broad.mit.edu 37 8 101020665 101020665 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:101020665G>A ENST00000360863.6 - 15 2493 c.2299C>T c.(2299-2301)Ctt>Ttt p.L767F RGS22_ENST00000523287.1_Missense_Mutation_p.L586F|RGS22_ENST00000523437.1_Missense_Mutation_p.L755F|RGS22_ENST00000519421.1_5'UTR NM_015668.3 NP_056483.3 Q8NE09 RGS22_HUMAN regulator of G-protein signaling 22 767 Poly-Leu. negative regulation of signal transduction cytoplasm|plasma membrane GTPase activator activity|signal transducer activity RGS22/SYCP1(2) breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 68 Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169) AGGAGGAGAAGGATATATTCC 0.383000 59 113 0 0 1 0 0 SERPINB11 89778 broad.mit.edu 37 18 61383346 61383346 + RNA SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr18:61383346G>A ENST00000544088.1 + 0 497 SERPINB11_ENST00000489748.1_RNA|SERPINB11_ENST00000536691.1_RNA|SERPINB11_ENST00000382749.5_RNA|SERPINB11_ENST00000538847.1_RNA NM_080475.2 NP_536723.2 Q96P15 SPB11_HUMAN serpin peptidase inhibitor, clade B (ovalbumin), member 11 (gene/pseudogene) regulation of proteolysis cytoplasm serine-type endopeptidase inhibitor activity breast(1)|cervix(1)|kidney(1)|lung(3) 6 Esophageal squamous(42;0.129) CAGAAGAAACGAGGAAAACGA 0.353000 12 17 0 0 1 0 0 PLA2G3 50487 broad.mit.edu 37 22 31532751 31532751 + Missense_Mutation SNP C C T rs112546333 TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr22:31532751C>T ENST00000215885.3 - 6 1486 c.1234G>A c.(1234-1236)Gag>Aag p.E412K NM_015715.3 NP_056530.2 Q9NZ20 PA2G3_HUMAN phospholipase A2, group III 412 cilium morphogenesis|lipid catabolic process|phospholipid metabolic process centriole|extracellular space|plasma membrane calcium ion binding|calcium-dependent phospholipase A2 activity p.E412*(1) large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1) 18 TTGGTAACCTCGGGTGGGCTG 0.622000 54 153 0 0 1 0 0 CBX2 84733 broad.mit.edu 37 17 77758404 77758404 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:77758404C>T ENST00000310942.4 + 5 1266 c.1162C>T c.(1162-1164)Cct>Tct p.P388S NM_005189.2 NP_005180.1 Q14781 CBX2_HUMAN chromobox homolog 2 388 cell differentiation|chromatin modification|development of primary sexual characteristics|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent PcG protein complex DNA binding breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|upper_aerodigestive_tract(1) 16 OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224) CAACCCAGCCCCTGGGAAGGG 0.662000 23 50 0 0 1 0 0 PRDM14 63978 broad.mit.edu 37 8 70981484 70981484 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:70981484G>A ENST00000276594.2 - 2 813 c.612C>T c.(610-612)ttC>ttT p.F204F NM_024504.3 NP_078780.1 Q9GZV8 PRD14_HUMAN PR domain containing 14 204 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 Breast(64;0.193) Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405) CGTACAGAACGAAGTGCAGGT 0.602000 51 112 0 0 1 0 0 STEAP2 261729 broad.mit.edu 37 7 89856370 89856370 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:89856370G>A ENST00000287908.3 + 3 971 c.578G>A c.(577-579)gGa>gAa p.G193E STEAP2_ENST00000394622.2_Missense_Mutation_p.G193E|STEAP2_ENST00000394621.2_Missense_Mutation_p.G193E|STEAP2_ENST00000394632.1_Missense_Mutation_p.G193E|STEAP2_ENST00000402625.2_Missense_Mutation_p.G193E|STEAP2_ENST00000394629.2_Missense_Mutation_p.G193E|STEAP2_ENST00000394626.1_Missense_Mutation_p.G193E NM_001244944.1|NM_152999.3 NP_001231873.1|NP_694544.2 Q8NFT2 STEA2_HUMAN STEAP family member 2, metalloreductase 193 electron transport chain|endocytosis|Golgi to plasma membrane transport|ion transport|iron ion homeostasis|regulated secretory pathway|response to hormone stimulus cytosol|early endosome|endosome membrane|integral to Golgi membrane|plasma membrane|trans-Golgi network transport vesicle|vesicular fraction electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity|transporter activity endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1) 15 all_hematologic(106;0.112) ATTGACTTGGGATCCTTATCA 0.423000 9 246 0 0 1 0 0 DOK6 220164 broad.mit.edu 37 18 67406215 67406215 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr18:67406215G>A ENST00000382713.5 + 6 804 c.614G>A c.(613-615)gGa>gAa p.G205E DOK6_ENST00000584435.1_3'UTR NM_152721.5 NP_689934.2 Q6PKX4 DOK6_HUMAN docking protein 6 205 IRS-type PTB. insulin receptor binding central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 20 Colorectal(73;0.083)|Esophageal squamous(42;0.131) TGTGACACAGGAGAAGGACTA 0.428000 67 118 0 0 1 0 0 SIGLEC1 6614 broad.mit.edu 37 20 3675535 3675535 + Nonsense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr20:3675535G>A ENST00000344754.4 - 11 2718 c.2719C>T c.(2719-2721)Caa>Taa p.Q907* SIGLEC1_ENST00000202578.4_Nonsense_Mutation_p.Q907* NM_023068.3 NP_075556.1 Q9BZZ2 SN_HUMAN sialic acid binding Ig-like lectin 1, sialoadhesin 907 Ig-like C2-type 9. cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response extracellular region|integral to membrane|plasma membrane sugar binding NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1) 70 TGGCCCTCTTGGAGCTCAGGT 0.612000 12 48 0 0 1 0 0 GSTA5 221357 broad.mit.edu 37 6 52701167 52701167 + Splice_Site SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:52701167C>T ENST00000370989.1 - 4 298 c.e4-1 GSTA5_ENST00000284562.2_Splice_Site|GSTA5_ENST00000475052.1_Intron Q7RTV2 GSTA5_HUMAN glutathione S-transferase alpha 5 glutathione metabolic process|xenobiotic metabolic process cytosol glutathione transferase activity endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 Lung NSC(77;0.0912) Glutathione(DB00143) AAACTCCCATCTTAGAAAGAA 0.383000 51 152 0 0 1 0 0 SPATA25 128497 broad.mit.edu 37 20 44515432 44515432 + Silent SNP C C T rs138752668 TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr20:44515432C>T ENST00000372519.3 - 2 452 c.408G>A c.(406-408)ccG>ccA p.P136P NM_080608.3 NP_542175.1 Q9BR10 CT165_HUMAN spermatogenesis associated 25 136 integral to membrane CAGAGGGTACCGGTAGAACCC 0.647000 78 135 0 0 1 0 0 SFTPD 6441 broad.mit.edu 37 10 81706265 81706265 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:81706265C>T ENST00000372292.3 - 2 191 c.151G>A c.(151-153)Gat>Aat p.D51N NM_003019.4 NP_003010.4 P35247 SFTPD_HUMAN surfactant protein D 51 Collagen-like. cell junction assembly|innate immune response|lung alveolus development|macrophage chemotaxis|negative regulation of interleukin-2 biosynthetic process|negative regulation of T cell proliferation|positive regulation of phagocytosis|reactive oxygen species metabolic process|receptor-mediated endocytosis|respiratory gaseous exchange|surfactant homeostasis collagen|endocytic vesicle|extracellular space|lysosome bacterial cell surface binding|protein binding|sugar binding p.D51N(1) endometrium(1)|kidney(3)|large_intestine(5)|lung(3)|skin(4)|urinary_tract(1) 17 Breast(12;0.000615)|Prostate(51;0.0095)|all_epithelial(25;0.027) Epithelial(14;0.0244)|all cancers(16;0.0558)|Colorectal(32;0.109) TCCCGTCCATCGCGACCAGGC 0.607000 35 68 0 0 1 0 0 NGF 4803 broad.mit.edu 37 1 115829083 115829083 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:115829083G>A ENST00000369512.2 - 3 502 c.334C>T c.(334-336)Ccc>Tcc p.P112S RP4-663N10.1_ENST00000425449.1_RNA NM_002506.2 NP_002497.2 P01138 NGF_HUMAN nerve growth factor (beta polypeptide) 112 activation of MAPKK activity|activation of phospholipase C activity|anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|negative regulation of cell cycle|nerve growth factor processing|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|Ras protein signal transduction endosome|Golgi lumen growth factor activity|nerve growth factor receptor binding breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 13 Lung SC(450;0.211) all_cancers(81;1.07e-06)|all_epithelial(167;4.43e-06)|all_lung(203;2.86e-05)|Lung NSC(69;4.99e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179) Clenbuterol(DB01407) CTGTTGAAGGGGGCAGCACCA 0.597000 20 29 0 0 1 0 0 CYP51A1 1595 broad.mit.edu 37 7 91743052 91743052 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:91743052G>A ENST00000003100.8 - 10 1622 c.1457C>T c.(1456-1458)cCc>cTc p.P486L LRRD1_ENST00000422722.1_5'UTR|CYP51A1_ENST00000450723.1_Missense_Mutation_p.P381L NM_000786.3 NP_000777.1 Q16850 CP51A_HUMAN cytochrome P450, family 51, subfamily A, polypeptide 1 480 cholesterol biosynthetic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome electron carrier activity|heme binding|sterol 14-demethylase activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|skin(1) 10 all_cancers(62;2.16e-09)|all_epithelial(64;3.86e-08)|Breast(17;0.00206)|all_lung(186;0.169)|all_hematologic(106;0.215)|Lung NSC(181;0.227) STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225) Fluconazole(DB00196)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Miconazole(DB01110)|Terconazole(DB00251) ATTCACAGTGGGAAAGTATCC 0.348000 44 216 0 0 1 0 0 TOP3A 7156 broad.mit.edu 37 17 18208457 18208457 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:18208457G>A ENST00000321105.5 - 5 682 c.468C>T c.(466-468)atC>atT p.I156I TOP3A_ENST00000542570.1_Silent_p.I61I NM_004618.3 NP_004609.1 Q13472 TOP3A_HUMAN topoisomerase (DNA) III alpha 156 Toprim. DNA topological change|meiosis chromosome|PML body ATP binding|DNA topoisomerase type I activity|protein binding|zinc ion binding p.I156I(1) breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(2)|urinary_tract(1) 36 TCTCAAACCCGATGTTTTCGC 0.448000 26 46 0 0 1 0 0 NOS3 4846 broad.mit.edu 37 7 150703564 150703564 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:150703564C>T ENST00000297494.3 + 15 2159 c.1802C>T c.(1801-1803)cCt>cTt p.P601L NOS3_ENST00000461406.1_Missense_Mutation_p.P395L NM_000603.4 NP_000594.2 P29474 NOS3_HUMAN nitric oxide synthase 3 (endothelial cell) 601 Flavodoxin-like. anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia caveola|cytoskeleton|cytosol|Golgi membrane actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 50 all_neural(206;0.219) OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360) AACAGCTCCCCTCGGCCGGAA 0.537000 73 267 0 0 1 0 0 KMT2C 58508 broad.mit.edu 37 7 151935871 151935871 + Nonsense_Mutation SNP C C T rs111493987 TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:151935871C>T ENST00000355193.2 - 15 2791 c.2573G>A c.(2572-2574)tGg>tAg p.W858* KMT2C_ENST00000262189.6_Nonsense_Mutation_p.W858* lysine (K)-specific methyltransferase 2C GTCTGGGGACCAGGAAGGTGG 0.438000 8 248 0 0 1 0 0 STIM2 57620 broad.mit.edu 37 4 27019455 27019455 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:27019455C>T ENST00000382009.3 + 12 2164 c.1897C>T c.(1897-1899)Ccg>Tcg p.P633S STIM2_ENST00000237364.5_Missense_Mutation_p.P625S|STIM2_ENST00000412829.2_Missense_Mutation_p.P625S|STIM2_ENST00000467087.1_Missense_Mutation_p.P538S|STIM2_ENST00000467011.1_Missense_Mutation_p.P538S|STIM2_ENST00000465503.1_Missense_Mutation_p.P546S NM_001169118.1 NP_001162589.1 Q9P246 STIM2_HUMAN stromal interaction molecule 2 538 activation of store-operated calcium channel activity|calcium ion transport|cellular calcium ion homeostasis|negative regulation of calcium ion transport via store-operated calcium channel activity endoplasmic reticulum membrane|integral to membrane|plasma membrane calcium channel regulator activity|calcium ion binding|protein binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(7)|prostate(1)|skin(2)|urinary_tract(1) 25 Breast(46;0.0503) CGCCCCCCACCCGTCACACCC 0.612000 7 280 0 0 1 0 0 CCDC181 57821 broad.mit.edu 37 1 169390959 169390959 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:169390959C>T ENST00000545005.1 - 4 1217 c.710G>A c.(709-711)gGg>gAg p.G237E CCDC181_ENST00000491570.1_5'UTR|CCDC181_ENST00000367806.3_Missense_Mutation_p.G237E|CCDC181_ENST00000367805.3_Missense_Mutation_p.G237E coiled-coil domain containing 181 AGGCAAAAACCCCTGACTGGC 0.403000 109 130 0 0 1 0 0 DSC3 1825 broad.mit.edu 37 18 28598708 28598708 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr18:28598708C>T ENST00000434452.1 - 8 1155 c.1001G>A c.(1000-1002)gGa>gAa p.G334E DSC3_ENST00000360428.4_Missense_Mutation_p.G334E NM_024423.2 NP_077741.2 Q14574 DSC3_HUMAN desmocollin 3 334 Cadherin 2. homophilic cell adhesion|protein stabilization desmosome|integral to membrane|membrane fraction calcium ion binding|gamma-catenin binding endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 56 OV - Ovarian serous cystadenocarcinoma(10;0.125) GCCTATCAATCCAAAAAACTG 0.313000 36 66 0 0 1 0 0 NOS2 4843 broad.mit.edu 37 17 26101339 26101339 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:26101339G>A ENST00000313735.6 - 12 1653 c.1420C>T c.(1420-1422)Ccc>Tcc p.P474S NM_000625.4 NP_000616.3 P35228 NOS2_HUMAN nitric oxide synthase 2, inducible 474 arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process cytosol|nucleus arginine binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 56 Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155) TGAAACACGGGGGTGATGCTC 0.557000 22 37 0 0 1 0 0 FER1L6 654463 broad.mit.edu 37 8 125078686 125078686 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:125078686C>T ENST00000522917.1 + 27 3779 c.3573C>T c.(3571-3573)tcC>tcT p.S1191S FER1L6_ENST00000399018.1_Silent_p.S1191S|FER1L6-AS2_ENST00000520031.1_RNA NM_001039112.2 NP_001034201.2 Q2WGJ9 FR1L6_HUMAN fer-1-like 6 (C. elegans) 1191 integral to membrane NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1) 118 Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741) STAD - Stomach adenocarcinoma(47;0.00186) GGAAGCCTTCCCGGAGGTCCA 0.488000 124 239 0 0 1 0 0 FGFBP1 9982 broad.mit.edu 37 4 15938276 15938276 + Splice_Site SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:15938276C>T ENST00000382333.1 - 3 275 c.e3-1 FGFBP1_ENST00000259988.2_Splice_Site NM_005130.4 NP_005121.1 Q14512 FGFP1_HUMAN fibroblast growth factor binding protein 1 cell-cell signaling|negative regulation of cell proliferation|signal transduction extracellular space|plasma membrane heparin binding NS(1)|kidney(1)|large_intestine(2)|liver(1)|lung(2)|prostate(2)|skin(1) 10 GGGCGTTCACCTGTTTGACAA 0.557000 29 49 0 0 1 0 0 ARHGEF10 9639 broad.mit.edu 37 8 1882033 1882033 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:1882033C>T ENST00000518288.1 + 27 3382 c.3219C>T c.(3217-3219)ctC>ctT p.L1073L ARHGEF10_ENST00000349830.3_Silent_p.L1049L|ARHGEF10_ENST00000398564.1_Silent_p.L1074L|ARHGEF10_ENST00000520359.1_Silent_p.L1011L|ARHGEF10_ENST00000262112.6_Silent_p.L1045L O15013 ARHGA_HUMAN Rho guanine nucleotide exchange factor (GEF) 10 1074 centrosome duplication|myelination in peripheral nervous system|positive regulation of GTP catabolic process|positive regulation of stress fiber assembly|regulation of Rho protein signal transduction|spindle assembly involved in mitosis centrosome|cytosol|soluble fraction kinesin binding|Rho guanyl-nucleotide exchange factor activity endometrium(3)|large_intestine(11)|lung(11)|prostate(3)|skin(3)|stomach(3)|urinary_tract(1) 35 Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834) COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718) GAAGTCTACTCATGATGGAAG 0.443000 6 128 0 0 1 0 0 RNF133 168433 broad.mit.edu 37 7 122338213 122338213 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:122338213C>T ENST00000340112.2 - 1 997 c.760G>A c.(760-762)Gat>Aat p.D254N CADPS2_ENST00000449022.2_Intron|CADPS2_ENST00000412584.2_Intron|CADPS2_ENST00000313070.7_Intron|CADPS2_ENST00000334010.7_Intron NM_139175.1 NP_631914.1 Q8WVZ7 RN133_HUMAN ring finger protein 133 254 endoplasmic reticulum membrane|integral to membrane ligase activity|zinc ion binding NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|urinary_tract(1) 21 ACGCAGCTATCCCCATTTGGA 0.403000 11 283 0 0 1 0 0 CPNE6 9362 broad.mit.edu 37 14 24543519 24543519 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr14:24543519C>T ENST00000397016.2 + 6 754 c.443C>T c.(442-444)tCa>tTa p.S148L CPNE6_ENST00000537691.1_Missense_Mutation_p.S203L|CPNE6_ENST00000216775.2_Missense_Mutation_p.S148L O95741 CPNE6_HUMAN copine VI (neuronal) 148 C2 2. lipid metabolic process|nervous system development|synaptic transmission|vesicle-mediated transport calcium ion binding|transporter activity endometrium(4)|large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 22 GBM - Glioblastoma multiforme(265;0.0184) GAGGAGGTATCAGGCACAAAC 0.577000 25 61 0 0 1 0 0 FAT3 120114 broad.mit.edu 37 11 92616386 92616386 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:92616386G>A ENST00000298047.6 + 23 12781 c.12764G>A c.(12763-12765)gGg>gAg p.G4255E FAT3_ENST00000409404.2_Missense_Mutation_p.G4255E|FAT3_ENST00000533797.1_Missense_Mutation_p.G590E|FAT3_ENST00000525166.1_Missense_Mutation_p.G4105E Q8TDW7 FAT3_HUMAN FAT atypical cadherin 3 4255 homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 85 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) ATCGTGGACGGGCTGGGAGGC 0.667000 TCGA Ovarian(4;0.039) 76 161 0 0 1 0 0 VEGFC 7424 broad.mit.edu 37 4 177608358 177608358 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:177608358G>A ENST00000280193.2 - 6 1543 c.1128C>T c.(1126-1128)ttC>ttT p.F376F RP11-313E19.2_ENST00000509194.1_RNA|RP11-313E19.2_ENST00000504017.1_RNA NM_005429.2 NP_005420.1 P49767 VEGFC_HUMAN vascular endothelial growth factor C 376 angiogenesis|induction of positive chemotaxis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of mast cell chemotaxis|substrate-dependent cell migration|vascular endothelial growth factor receptor signaling pathway membrane|platelet alpha granule lumen chemoattractant activity|growth factor activity biliary_tract(1)|cervix(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(2)|skin(2) 41 Breast(14;0.000223)|Renal(120;0.00988)|Prostate(90;0.00996)|Melanoma(52;0.0101)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;1.59e-18)|Epithelial(43;3.68e-16)|OV - Ovarian serous cystadenocarcinoma(60;8.52e-09)|GBM - Glioblastoma multiforme(59;0.000546)|STAD - Stomach adenocarcinoma(60;0.00308)|Colorectal(24;0.025)|COAD - Colon adenocarcinoma(29;0.0359)|LUSC - Lung squamous cell carcinoma(193;0.0397) TTTGGTGGTGGAACTTCTTTC 0.368000 14 232 0 0 1 0 0 TENM4 26011 broad.mit.edu 37 11 78383364 78383364 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:78383364C>T ENST00000278550.7 - 31 5969 c.5507G>A c.(5506-5508)cGa>cAa p.R1836Q NM_001098816.2 NP_001092286.2 teneurin transmembrane protein 4 TAGGAGATTTCGGTTGTGAAC 0.502000 31 70 0 0 1 0 0 IQGAP2 10788 broad.mit.edu 37 5 75954374 75954374 + Missense_Mutation SNP T T C TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:75954374T>C ENST00000274364.6 + 21 2708 c.2411T>C c.(2410-2412)gTt>gCt p.V804A IQGAP2_ENST00000502745.1_Missense_Mutation_p.V300A|IQGAP2_ENST00000396234.3_Missense_Mutation_p.V300A|IQGAP2_ENST00000379730.3_Missense_Mutation_p.V306A NM_006633.2 NP_006624.2 Q13576 IQGA2_HUMAN IQ motif containing GTPase activating protein 2 804 small GTPase mediated signal transduction actin cytoskeleton actin binding|calmodulin binding|GTPase inhibitor activity|Ras GTPase activator activity p.V804A(1) NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 68 all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149) all cancers(79;1.38e-36) GAACTAGAGGTTGCACGATTA 0.453000 5 120 0 0 1 0 0 ZNF100 163227 broad.mit.edu 37 19 21910772 21910772 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:21910772G>A ENST00000358296.6 - 5 540 c.342C>T c.(340-342)ccC>ccT p.P114P ZNF100_ENST00000305570.6_Silent_p.P50P NM_173531.3 NP_775802.2 Q8IYN0 ZN100_HUMAN zinc finger protein 100 114 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(11)|skin(1)|upper_aerodigestive_tract(1) 21 AAAGGTCTTGGGGAAAATGAG 0.299000 25 44 0 0 1 0 0 MYH8 4626 broad.mit.edu 37 17 10303938 10303938 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:10303938C>T ENST00000403437.2 - 27 3598 c.3504G>A c.(3502-3504)aaG>aaA p.K1168K CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA NM_002472.2 NP_002463.2 P13535 MYH8_HUMAN myosin, heavy chain 8, skeletal muscle, perinatal 1168 muscle filament sliding cytosol|muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2) 134 CCTCCCGCTTCTTGTTCAATT 0.592000 Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling 67 159 0 0 1 0 0 REG1A 5967 broad.mit.edu 37 2 79350306 79350306 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:79350306G>A ENST00000233735.1 + 6 569 c.466G>A c.(466-468)Gac>Aac p.D156N NM_002909.4 NP_002900.2 P05451 REG1A_HUMAN regenerating islet-derived 1 alpha 156 C-type lectin. positive regulation of cell proliferation extracellular region growth factor activity|sugar binding NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(26)|prostate(1)|upper_aerodigestive_tract(1) 39 GCCTTGTGAAGACAAGTTCTC 0.418000 4 71 0 0 1 0 0 CD244 51744 broad.mit.edu 37 1 160808248 160808248 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:160808248C>T ENST00000368034.4 - 5 1004 c.827G>A c.(826-828)aGa>aAa p.R276K CD244_ENST00000368033.3_Missense_Mutation_p.R281K|CD244_ENST00000322302.7_Missense_Mutation_p.R184K|CD244_ENST00000368032.2_Missense_Mutation_p.R276K|CD244_ENST00000481677.1_5'UTR NM_001166663.1|NM_001166664.1|NM_016382.3 NP_001160135.1|NP_001160136.1|NP_057466.1 Q9BZW8 CD244_HUMAN CD244 molecule, natural killer cell receptor 2B4 281 blood coagulation|leukocyte migration integral to membrane|plasma membrane protein binding|receptor activity central_nervous_system(1)|large_intestine(3)|lung(12)|ovary(1)|urinary_tract(1) 18 all_cancers(52;2.72e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00737) TACGTGATTTCTCCTGGTTTT 0.463000 69 210 0 0 1 0 0 FAT3 120114 broad.mit.edu 37 11 92624245 92624245 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:92624245C>T ENST00000298047.6 + 27 13753 c.13736C>T c.(13735-13737)cCc>cTc p.P4579L FAT3_ENST00000409404.2_Missense_Mutation_p.P4547L|FAT3_ENST00000533797.1_Missense_Mutation_p.P882L|FAT3_ENST00000525166.1_Missense_Mutation_p.P4429L Q8TDW7 FAT3_HUMAN FAT atypical cadherin 3 4579 homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 85 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) CTTCACATTCCCTTTGTGGAG 0.517000 TCGA Ovarian(4;0.039) 15 26 0 0 1 0 0 FGFR4 2264 broad.mit.edu 37 5 176517406 176517406 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:176517406C>T ENST00000292408.4 + 3 352 c.107C>T c.(106-108)cCc>cTc p.P36L FGFR4_ENST00000393637.1_Missense_Mutation_p.P36L|FGFR4_ENST00000502906.1_Missense_Mutation_p.P36L|FGFR4_ENST00000292410.3_Missense_Mutation_p.P36L|FGFR4_ENST00000393648.2_Missense_Mutation_p.P36L|FGFR4_ENST00000507708.1_3'UTR NM_002011.3|NM_213647.1 NP_002002.3|NP_998812.1 P22455 FGFR4_HUMAN fibroblast growth factor receptor 4 36 Ig-like C2-type 1. insulin receptor signaling pathway|positive regulation of cell proliferation integral to plasma membrane ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2) 34 all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) Palifermin(DB00039) TGCCTGGCTCCCAGCCTGGAG 0.647000 TSP Lung(9;0.080) 4 68 0 0 1 0 0 USP24 23358 broad.mit.edu 37 1 55571898 55571898 + Missense_Mutation SNP A A C TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:55571898A>C ENST00000294383.6 - 41 4800 c.4801T>G c.(4801-4803)Ttc>Gtc p.F1601V USP24_ENST00000407756.1_Missense_Mutation_p.F1441V NM_015306.2 NP_056121.2 Q9UPU5 UBP24_HUMAN ubiquitin specific peptidase 24 1601 ubiquitin-dependent protein catabolic process binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 60 GAAGCTCGGAAAAGGAAGTCA 0.368000 6 62 0 0 1 0 0 MAP3K12 7786 broad.mit.edu 37 12 53876911 53876911 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:53876911C>T ENST00000267079.2 - 12 1802 c.1577G>A c.(1576-1578)gGg>gAg p.G526E MAP3K12_ENST00000547488.1_Missense_Mutation_p.G559E|MAP3K12_ENST00000547035.1_Missense_Mutation_p.G559E NM_001193511.1|NM_006301.3 NP_001180440.1|NP_006292.3 Q12852 M3K12_HUMAN mitogen-activated protein kinase kinase kinase 12 526 histone phosphorylation|JNK cascade|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation cytosol|membrane fraction|plasma membrane ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding NS(2)|breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3) 37 CCCAGGAAGCCCCACCCCACT 0.597000 24 61 0 0 1 0 0 RNF219 79596 broad.mit.edu 37 13 79190781 79190781 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr13:79190781G>A ENST00000282003.6 - 6 1173 c.1115C>T c.(1114-1116)cCa>cTa p.P372L RNF219-AS1_ENST00000560584.2_RNA|RNF219-AS1_ENST00000606429.1_RNA NM_024546.3 NP_078822.3 Q5W0B1 RN219_HUMAN ring finger protein 219 372 zinc ion binding breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|liver(1)|lung(11)|prostate(1)|skin(1) 32 Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848) GBM - Glioblastoma multiforme(99;0.0414) ACAGTCACTTGGTTTATTCCC 0.383000 6 101 0 0 1 0 0 CDH20 28316 broad.mit.edu 37 18 59221582 59221582 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr18:59221582G>A ENST00000262717.4 + 12 2458 c.2060G>A c.(2059-2061)cGg>cAg p.R687Q CDH20_ENST00000538374.1_Missense_Mutation_p.R687Q|CDH20_ENST00000536675.2_Missense_Mutation_p.R687Q Q9HBT6 CAD20_HUMAN cadherin 20, type 2 687 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3) 61 Colorectal(73;0.186) TGGAACCCCCGGGAGGCGCAG 0.682000 7 131 0 0 1 0 0 DGKZ 8525 broad.mit.edu 37 11 46395951 46395951 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:46395951G>A ENST00000454345.1 + 17 2097 c.1972G>A c.(1972-1974)Gcc>Acc p.A658T DGKZ_ENST00000532868.2_Missense_Mutation_p.A474T|DGKZ_ENST00000543978.1_Intron|DGKZ_ENST00000528615.1_Missense_Mutation_p.A248T|DGKZ_ENST00000318201.8_Missense_Mutation_p.A447T|DGKZ_ENST00000527911.1_Missense_Mutation_p.A470T|DGKZ_ENST00000343674.6_Missense_Mutation_p.A486T|DGKZ_ENST00000421244.2_Missense_Mutation_p.A470T|DGKZ_ENST00000395574.3_Missense_Mutation_p.A436T|DGKZ_ENST00000456247.2_Missense_Mutation_p.A469T NM_001105540.1 NP_001099010.1 Q13574 DGKZ_HUMAN diacylglycerol kinase, zeta 658 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell migration|intracellular signal transduction|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of mitotic cell cycle|platelet activation cytoplasm|lamellipodium|nucleus|plasma membrane ATP binding|diacylglycerol kinase activity|lipid kinase activity|metal ion binding|protein binding|protein C-terminus binding central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|pancreas(1)|prostate(1)|skin(1) 25 GBM - Glioblastoma multiforme(35;0.0259)|Lung(87;0.141) CCACCCAGAGGCCAACCCAGA 0.637000 49 88 0 0 1 0 0 GSG1 83445 broad.mit.edu 37 12 13240916 13240916 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:13240916C>T ENST00000337630.6 - 4 518 c.451G>A c.(451-453)Gac>Aac p.D151N GSG1_ENST00000351606.6_Missense_Mutation_p.R228K|GSG1_ENST00000537302.1_Intron|GSG1_ENST00000396310.2_Intron|GSG1_ENST00000432710.2_Missense_Mutation_p.D164N|GSG1_ENST00000396302.3_Missense_Mutation_p.R192K|GSG1_ENST00000324458.8_Missense_Mutation_p.D187N|GSG1_ENST00000457134.2_Intron NM_153823.3 NP_722545.2 Q2KHT4 GSG1_HUMAN germ cell associated 1 174 endoplasmic reticulum membrane|integral to membrane endometrium(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(1) 10 Prostate(47;0.183) BRCA - Breast invasive adenocarcinoma(232;0.15) AGTAGCAAGTCTGTTAGTAGC 0.522000 58 104 0 0 1 0 0 AASDHPPT 60496 broad.mit.edu 37 11 105965335 105965335 + Missense_Mutation SNP T T C TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:105965335T>C ENST00000278618.4 + 5 941 c.719T>C c.(718-720)tTt>tCt p.F240S RP11-677I18.3_ENST00000532422.1_RNA NM_015423.2 NP_056238.2 Q9NRN7 ADPPT_HUMAN aminoadipate-semialdehyde dehydrogenase-phosphopantetheinyl transferase 240 macromolecule biosynthetic process|pantothenate metabolic process cytosol holo-[acyl-carrier-protein] synthase activity|magnesium ion binding|protein binding endometrium(3)|kidney(2)|large_intestine(4)|lung(7)|prostate(1) 17 Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321) BRCA - Breast invasive adenocarcinoma(274;5.78e-05)|Epithelial(105;0.00622)|all cancers(92;0.041) GAGCACCATTTTGTTGCAGTT 0.289000 12 23 0 0 1 0 0 HERC6 55008 broad.mit.edu 37 4 89311911 89311911 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:89311911C>T ENST00000380265.5 + 4 727 c.544C>T c.(544-546)Cca>Tca p.P182S HERC6_ENST00000264346.7_Missense_Mutation_p.P182S|HERC6_ENST00000273960.3_Missense_Mutation_p.P182S NM_001165136.1 NP_001158608.1 Q8IVU3 HERC6_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase family member 6 182 protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytosol ubiquitin-protein ligase activity endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1) 11 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000222) GGAGGGGATCCCACTGGCTCA 0.637000 4 73 0 0 1 0 0 DNM1P46 196968 broad.mit.edu 37 15 100331837 100331837 + RNA SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr15:100331837G>A ENST00000341853.1 - 0 2354 NR_003260.1 TGGAGAGCTGGGAGGCCACGG 0.602000 27 53 0 0 1 0 0 ITPRIPL2 162073 broad.mit.edu 37 16 19126597 19126597 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr16:19126597G>A ENST00000381440.3 + 1 1344 c.814G>A c.(814-816)Ggg>Agg p.G272R CTD-2349B8.1_ENST00000564808.2_Intron NM_001034841.3 NP_001030013.1 Q3MIP1 IPIL2_HUMAN inositol 1,4,5-trisphosphate receptor interacting protein-like 2 272 integral to membrane endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 9 CAGCCTGGAGGGGCGCTGTCG 0.647000 OREG0023657 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 71 165 0 0 1 0 0 ATP13A5 344905 broad.mit.edu 37 3 193080379 193080379 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:193080379C>T ENST00000342358.4 - 4 549 c.432G>A c.(430-432)ctG>ctA p.L144L NM_198505.2 NP_940907.2 Q4VNC0 AT135_HUMAN ATPase type 13A5 144 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 76 all_cancers(143;1.08e-08)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06) GBM - Glioblastoma multiforme(46;0.000307) ACCGCTTCTCCAGGTCGTTCC 0.443000 8 201 0 0 1 0 0 IGHV1OR21-1 390530 broad.mit.edu 37 21 10862760 10862760 + RNA SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr21:10862760C>T ENST00000559480.1 + 0 56 breast(1)|endometrium(1)|kidney(3)|lung(20)|urinary_tract(1) 26 GGTGCCCAGTCCCAGGTACAG 0.557000 84 282 0 0 1 0 0 PARVB 29780 broad.mit.edu 37 22 44514959 44514959 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr22:44514959G>A ENST00000338758.6 + 4 378 c.315G>A c.(313-315)agG>agA p.R105R PARVB_ENST00000406477.3_Silent_p.R138R|PARVB_ENST00000404989.1_Silent_p.R68R|PARVB_ENST00000402876.3_Silent_p.R105R NM_013327.4 NP_037459.2 Q9HBI1 PARVB_HUMAN parvin, beta 105 CH 1. cell adhesion|cell junction assembly cytoskeleton|cytosol|focal adhesion actin binding NS(1)|breast(1)|endometrium(3)|large_intestine(7)|lung(8)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 25 Ovarian(80;0.0246)|all_neural(38;0.0423) TGGAGGAGAGGATCATTGTGA 0.587000 4 121 0 0 1 0 0 MGAM 8972 broad.mit.edu 37 7 141765202 141765202 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:141765202C>T ENST00000475668.2 + 38 4606 c.4552C>T c.(4552-4554)Cgc>Tgc p.R1518C MGAM_ENST00000549489.2_Missense_Mutation_p.R1518C O43451 MGA_HUMAN maltase-glucoamylase (alpha-glucosidase) 1518 Glucoamylase. polysaccharide digestion|starch catabolic process apical plasma membrane|integral to membrane carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity p.R1518S(3) cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2) 13 Melanoma(164;0.0272) Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878) CTCTTCTGGCCGCTGGGCAGG 0.612000 7 27 0 0 1 0 0 ZACN 353174 broad.mit.edu 37 17 74075557 74075557 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:74075557G>A ENST00000334586.5 + 2 218 c.135G>A c.(133-135)aaG>aaA p.K45K ZACN_ENST00000392503.2_Silent_p.K45K NM_180990.3 NP_851321.2 Q401N2 ZACN_HUMAN zinc activated ligand-gated ion channel 45 response to zinc ion integral to membrane|membrane fraction|plasma membrane|postsynaptic membrane extracellular ligand-gated ion channel activity|receptor activity breast(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 11 TGTCCAAGAAGGTTCAGGAAA 0.522000 32 74 0 0 1 0 0 OR4C15 81309 broad.mit.edu 37 11 55322738 55322738 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:55322738C>T ENST00000314644.2 + 1 956 c.956C>T c.(955-957)tCc>tTc p.S319F NM_001001920.1 NP_001001920.1 Q8NGM1 OR4CF_HUMAN olfactory receptor, family 4, subfamily C, member 15 265 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5) 56 TCTGCTTTTTCCCTTGACAAA 0.403000 HNSCC(20;0.049) 84 152 0 0 1 0 0 CSMD1 64478 broad.mit.edu 37 8 2823423 2823423 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:2823423C>T ENST00000602557.1 - 60 9712 c.9157G>A c.(9157-9159)Gac>Aac p.D3053N CSMD1_ENST00000602723.1_Intron|CSMD1_ENST00000537824.1_Missense_Mutation_p.D3052N|CSMD1_ENST00000400186.3_Intron|CSMD1_ENST00000542608.1_Intron|CSMD1_ENST00000520002.1_Missense_Mutation_p.D3053N Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 3053 Sushi 24. integral to membrane p.D3052N(1)|p.D2781N(1) breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) AAGGTGAAGTCGGTCCCAAAC 0.463000 6 16 0 0 1 0 0 SUPT20H 55578 broad.mit.edu 37 13 37596251 37596251 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr13:37596251G>A ENST00000475892.1 - 20 1978 c.1795C>T c.(1795-1797)Cct>Tct p.P599S SUPT20H_ENST00000356185.3_Intron|SUPT20H_ENST00000350612.6_Intron|SUPT20H_ENST00000360252.4_Intron|SUPT20H_ENST00000464744.1_Intron NM_001278480.1 NP_001265409.1 suppressor of Ty 20 homolog (S. cerevisiae) GTGGAAAGAGGAATGGTTGTT 0.498000 30 46 0 0 1 0 0 PSTPIP2 9050 broad.mit.edu 37 18 43604605 43604605 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr18:43604605C>T ENST00000409746.5 - 3 253 c.182G>A c.(181-183)aGg>aAg p.R61K PSTPIP2_ENST00000588801.1_5'UTR|PSTPIP2_ENST00000589328.1_Missense_Mutation_p.R61K NM_024430.3 NP_077748.3 Q9H939 PPIP2_HUMAN proline-serine-threonine phosphatase interacting protein 2 61 FCH. membrane endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1) 17 CGGCTTCTTCCTAGAGAGGTT 0.468000 9 265 0 0 1 0 0 CYP11B1 1584 broad.mit.edu 37 8 143955864 143955864 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:143955864C>T ENST00000292427.4 - 9 1469 c.1437G>A c.(1435-1437)gaG>gaA p.E479E CYP11B1_ENST00000377675.3_Silent_p.E550E|CYP11B1_ENST00000517471.1_Silent_p.E413E NM_000497.3 NP_000488.3 P15538 C11B1_HUMAN cytochrome P450, family 11, subfamily B, polypeptide 1 479 aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process mitochondrial inner membrane electron carrier activity|steroid 11-beta-monooxygenase activity central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2) 67 all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155) Mitotane(DB00648) TCTTTATGTCCTCTTGGGTTA 0.552000 Familial Hyperaldosteronism type I 5 129 0 0 1 0 0 C10orf99 387695 broad.mit.edu 37 10 85944436 85944436 + Splice_Site SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:85944436G>A ENST00000372126.3 + 3 274 c.e3-1 C10orf99_ENST00000472542.1_Intron NM_207373.2 NP_997256.1 Q6UWK7 CJ099_HUMAN chromosome 10 open reading frame 99 extracellular region endometrium(1)|lung(1)|pancreas(1)|prostate(1) 4 GCTCCTCCCAGGACATCATGT 0.542000 43 103 0 0 1 0 0 CASR 846 broad.mit.edu 37 3 122001065 122001065 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:122001065G>A ENST00000498619.1 + 6 2182 c.1744G>A c.(1744-1746)Gag>Aag p.E582K CASR_ENST00000490131.1_Missense_Mutation_p.E572K|CASR_ENST00000296154.5_Missense_Mutation_p.E572K NM_001178065.1 NP_001171536.1 P41180 CASR_HUMAN calcium-sensing receptor 572 C -> F (in FHH).|C -> Y (in NSHPT). anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification integral to plasma membrane G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 84 GBM - Glioblastoma multiforme(114;0.226) Cinacalcet(DB01012) TCCTGATGGGGAGTATAGTGA 0.597000 7 152 0 0 1 0 0 PPARGC1B 133522 broad.mit.edu 37 5 149213244 149213244 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:149213244C>T ENST00000309241.5 + 5 1640 c.1608C>T c.(1606-1608)ctC>ctT p.L536L PPARGC1B_ENST00000360453.4_Silent_p.L497L|PPARGC1B_ENST00000394320.3_Silent_p.L536L|PPARGC1B_ENST00000403750.1_Silent_p.L472L NM_133263.3 NP_573570.3 Q86YN6 PRGC2_HUMAN peroxisome proliferator-activated receptor gamma, coactivator 1 beta 536 estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter mediator complex AF-2 domain binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|receptor activator activity|RNA binding|RNA polymerase II transcription cofactor activity NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1) 30 KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147) ACCAGCAGCTCCTACGGGGAC 0.667000 7 22 0 0 1 0 0 COL9A1 1297 broad.mit.edu 37 6 70961983 70961983 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:70961983C>T ENST00000357250.6 - 27 1958 c.1800G>A c.(1798-1800)atG>atA p.M600I COL9A1_ENST00000370499.4_Missense_Mutation_p.M357I|COL9A1_ENST00000489611.1_5'UTR|COL9A1_ENST00000320755.7_Missense_Mutation_p.M357I NM_001851.4 NP_001842.3 P20849 CO9A1_HUMAN collagen, type IX, alpha 1 600 Triple-helical region (COL2). axon guidance|cell adhesion|organ morphogenesis collagen type IX metal ion binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4) 80 CTGAATTTCCCATCTGACCAG 0.423000 40 83 0 0 1 0 0 YBX3 8531 broad.mit.edu 37 12 10862566 10862566 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:10862566G>A ENST00000228251.4 - 6 921 c.721C>T c.(721-723)Cac>Tac p.H241Y YBX3_ENST00000279550.7_Intron|YBX3_ENST00000546164.1_5'UTR NM_003651.4 NP_003642.3 Y box binding protein 3 TGTCCCACGTGGTAAGGCGGG 0.597000 23 48 0 0 1 0 0 ARHGEF26 26084 broad.mit.edu 37 3 153847392 153847392 + Nonsense_Mutation SNP G G T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:153847392G>T ENST00000356448.4 + 4 1437 c.1153G>T c.(1153-1155)Gaa>Taa p.E385* ARHGEF26_ENST00000465817.1_Nonsense_Mutation_p.E385*|ARHGEF26_ENST00000465093.1_Nonsense_Mutation_p.E385* NM_001251962.1 NP_001238891.1 Q96DR7 ARHGQ_HUMAN Rho guanine nucleotide exchange factor (GEF) 26 385 regulation of Rho protein signal transduction intracellular|ruffle Rho guanyl-nucleotide exchange factor activity endometrium(4)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1) 23 AAACTACAAGGAAAAGGCCCT 0.368000 15 24 1.52009e-12 1.53101e-12 1 1 0 RAD51AP2 729475 broad.mit.edu 37 2 17696506 17696506 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:17696506C>T ENST00000399080.2 - 1 3200 c.3177G>A c.(3175-3177)caG>caA p.Q1059Q NM_001099218.2 NP_001092688.1 Q09MP3 R51A2_HUMAN RAD51 associated protein 2 1059 endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(10)|liver(1)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 49 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158) TAGGAACTTCCTGTTCTCCAT 0.348000 29 48 0 0 1 0 0 IQGAP1 8826 broad.mit.edu 37 15 91025444 91025444 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr15:91025444C>T ENST00000268182.5 + 28 3610 c.3486C>T c.(3484-3486)ttC>ttT p.F1162F IQGAP1_ENST00000560738.1_Silent_p.F590F NM_003870.3 NP_003861.1 P46940 IQGA1_HUMAN IQ motif containing GTPase activating protein 1 1162 C1.|Ras-GAP. energy reserve metabolic process|regulation of insulin secretion|small GTPase mediated signal transduction actin filament|cytoplasm|midbody|nucleus|plasma membrane calmodulin binding|GTPase inhibitor activity|protein phosphatase binding|Ras GTPase activator activity breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 59 Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488) BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194) GGATGCGCTTCATTGCCAAAG 0.522000 OREG0023473 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 43 104 0 0 1 0 0 SDK1 221935 broad.mit.edu 37 7 4304842 4304842 + Nonsense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:4304842G>A ENST00000404826.2 + 45 6607 c.6468G>A c.(6466-6468)tgG>tgA p.W2156* SDK1_ENST00000389531.3_Nonsense_Mutation_p.W2136*|SDK1_ENST00000466611.1_3'UTR NM_152744.3 NP_689957.3 Q7Z5N4 SDK1_HUMAN sidekick cell adhesion molecule 1 2156 cell adhesion integral to membrane NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4) 153 all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194) UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15) ACAACTCATGGAAGCGCAGGG 0.692000 13 32 0 0 1 0 0 OXGR1 27199 broad.mit.edu 37 13 97639159 97639159 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr13:97639159G>A ENST00000298440.1 - 4 1098 c.855C>T c.(853-855)atC>atT p.I285I OXGR1_ENST00000543457.1_Silent_p.I285I NM_080818.3 NP_543008.3 Q96P68 OXGR1_HUMAN oxoglutarate (alpha-ketoglutarate) receptor 1 285 integral to membrane|plasma membrane purinergic nucleotide receptor activity, G-protein coupled p.I285I(1) NS(1)|large_intestine(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 15 all_neural(89;0.0982)|Medulloblastoma(90;0.163) BRCA - Breast invasive adenocarcinoma(86;0.186) GTCTAGAAACGATGTAAGCTT 0.433000 10 86 0 0 1 0 0 USHBP1 83878 broad.mit.edu 37 19 17375083 17375083 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:17375083C>T ENST00000252597.3 - 2 199 c.26G>A c.(25-27)cGa>cAa p.R9Q USHBP1_ENST00000431146.2_5'UTR|USHBP1_ENST00000598570.1_5'UTR NM_031941.3 NP_114147.2 Q8N6Y0 USBP1_HUMAN Usher syndrome 1C binding protein 1 9 PDZ domain binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(10)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 44 TCGCCGGCTTCGGGGCCGCGT 0.637000 21 30 0 0 1 0 0 FAM83D 81610 broad.mit.edu 37 20 37580543 37580543 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr20:37580543G>A ENST00000217429.4 + 4 1269 c.1228G>A c.(1228-1230)Gag>Aag p.E410K NM_030919.2 NP_112181.2 Q9H4H8 FA83D_HUMAN family with sequence similarity 83, member D 380 cell division|mitosis cytoplasm|spindle pole endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)|stomach(1) 28 Myeloproliferative disorder(115;0.00878) CCACAGGGACGAGCTCCAGAG 0.577000 30 39 0 0 1 0 0 NOD1 10392 broad.mit.edu 37 7 30491655 30491655 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:30491655G>A ENST00000222823.4 - 6 1903 c.1378C>T c.(1378-1380)Ctg>Ttg p.L460L NM_006092.2 NP_006083.1 Q9Y239 NOD1_HUMAN nucleotide-binding oligomerization domain containing 1 460 NACHT. activation of MAPK activity|detection of bacterium|induction of apoptosis|inflammatory response|innate immune response|interleukin-8 biosynthetic process|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of dendritic cell antigen processing and presentation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway basolateral plasma membrane|cytosol ATP binding|CARD domain binding|caspase activator activity|peptidoglycan binding|protein homodimerization activity breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|skin(2) 39 AGCGAGCACAGAGTGTCCCGG 0.657000 11 114 0 0 1 0 0 MYH8 4626 broad.mit.edu 37 17 10304995 10304995 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:10304995C>T ENST00000403437.2 - 23 2890 c.2796G>A c.(2794-2796)gaG>gaA p.E932E CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA NM_002472.2 NP_002463.2 P13535 MYH8_HUMAN myosin, heavy chain 8, skeletal muscle, perinatal 932 muscle filament sliding cytosol|muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2) 134 TGATCTCTTCCTCCTCCTCAG 0.443000 Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling 127 328 0 0 1 0 0 HAO1 54363 broad.mit.edu 37 20 7915279 7915279 + Nonsense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr20:7915279C>T ENST00000378789.3 - 2 192 c.141G>A c.(139-141)tgG>tgA p.W47* NM_017545.2 NP_060015.1 Q9UJM8 HAOX1_HUMAN hydroxyacid oxidase (glycolate oxidase) 1 47 FMN hydroxy acid dehydrogenase. cellular nitrogen compound metabolic process|fatty acid alpha-oxidation|glycolate catabolic process|glyoxylate metabolic process peroxisomal matrix FMN binding|glycolate oxidase activity|glyoxylate oxidase activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 36 GATACAGCTTCCATCTAGaat 0.348000 15 33 0 0 1 0 0 PRDM9 56979 broad.mit.edu 37 5 23523411 23523411 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:23523411G>A ENST00000296682.3 + 9 1076 c.894G>A c.(892-894)ggG>ggA p.G298G NM_020227.2 NP_064612.2 Q9NQV7 PRDM9_HUMAN PR domain containing 9 298 SET. meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleoplasm histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11) 172 TCACCAAGGGGAGAAACTGCT 0.438000 HNSCC(3;0.000094) 32 34 0 0 1 0 0 CCDC88C 440193 broad.mit.edu 37 14 91780121 91780121 + Missense_Mutation SNP T T A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr14:91780121T>A ENST00000389857.6 - 15 2125 c.2039A>T c.(2038-2040)aAg>aTg p.K680M NM_001080414.3 NP_001073883.2 Q9P219 DAPLE_HUMAN coiled-coil domain containing 88C 680 microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway cytoplasm|insoluble fraction microtubule binding|PDZ domain binding|protein self-association central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1) 24 all_cancers(154;0.0468) GTCCAGAGACTTCCTCAGAGT 0.627000 11 23 0 0 1 0 0 KRT6A 3853 broad.mit.edu 37 12 52881877 52881877 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:52881877C>T ENST00000330722.6 - 8 1503 c.1435G>A c.(1435-1437)Gaa>Aaa p.E479K NM_005554.3 NP_005545.1 P02538 K2C6A_HUMAN keratin 6A 479 Tail. cell differentiation|ectoderm development|positive regulation of cell proliferation keratin filament protein binding|structural constituent of cytoskeleton breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 39 BRCA - Breast invasive adenocarcinoma(357;0.189) CCAACGCCTTCGCCATTCAGC 0.587000 29 73 0 0 1 0 0 MUC4 4585 broad.mit.edu 37 3 195516547 195516547 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:195516547G>A ENST00000463781.3 - 2 2363 c.1904C>T c.(1903-1905)tCc>tTc p.S635F MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.S635F|MUC4_ENST00000346145.4_Intron NM_018406.6 NP_060876.5 Q99102 MUC4_HUMAN mucin 4, cell surface associated 640 cell-matrix adhesion integral to plasma membrane|proteinaceous extracellular matrix ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;2.37e-05) ACCCCTTTGGGAAACAGCTGG 0.507000 82 181 0 0 1 0 0 SLC4A7 9497 broad.mit.edu 37 3 27473069 27473069 + Silent SNP A A C TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:27473069A>C ENST00000295736.5 - 7 913 c.843T>G c.(841-843)ctT>ctG p.L281L SLC4A7_ENST00000428386.1_Intron|SLC4A7_ENST00000454389.1_Silent_p.L290L|SLC4A7_ENST00000446700.1_Silent_p.L273L|SLC4A7_ENST00000425128.2_Silent_p.L273L|SLC4A7_ENST00000455077.1_Intron|SLC4A7_ENST00000388777.4_5'UTR|SLC4A7_ENST00000435667.2_Intron|SLC4A7_ENST00000440156.1_Silent_p.L277L|SLC4A7_ENST00000437179.1_Intron|SLC4A7_ENST00000445684.1_Silent_p.L277L NM_003615.4 NP_003606.3 Q9Y6M7 S4A7_HUMAN solute carrier family 4, sodium bicarbonate cotransporter, member 7 281 apical plasma membrane|basolateral plasma membrane|integral to membrane|stereocilium inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(9)|ovary(4)|skin(1) 38 GATGACCAAGAAGAAGAGATA 0.512000 10 141 0 0 1 0 0 DNAH8 1769 broad.mit.edu 37 6 38899718 38899718 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:38899718G>A ENST00000359357.3 + 74 11009 c.10755G>A c.(10753-10755)atG>atA p.M3585I DNAH8_ENST00000441566.1_Missense_Mutation_p.M3549I|DNAH8_ENST00000449981.2_Missense_Mutation_p.M3802I|RP1-207H1.3_ENST00000416948.1_RNA|RP1-207H1.3_ENST00000453417.1_RNA dynein, axonemal, heavy chain 8 NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4) 260 CTGTTACAATGAAAGGACTTG 0.343000 6 165 0 0 1 0 0 AHNAK2 113146 broad.mit.edu 37 14 105407677 105407677 + Missense_Mutation SNP A A C TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr14:105407677A>C ENST00000333244.5 - 7 14230 c.14111T>G c.(14110-14112)tTt>tGt p.F4704C AHNAK2_ENST00000557457.1_Intron NM_138420.2 NP_612429.2 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 4704 nucleus cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3) 33 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) GGGCACTTTAAAATGCAGTTT 0.403000 11 75 0 0 1 0 0 ADAMTS17 170691 broad.mit.edu 37 15 100591900 100591900 + Missense_Mutation SNP A A T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr15:100591900A>T ENST00000268070.4 - 17 2437 c.2332T>A c.(2332-2334)Tat>Aat p.Y778N NM_139057.2 NP_620688.2 Q8TE56 ATS17_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 17 778 Spacer. proteolysis intracellular|proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(24)|ovary(3)|prostate(2) 50 Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571) OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161) COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219) GTGTATTCATAATGAATTCCA 0.468000 6 310 0 0 1 0 0 TNIP3 79931 broad.mit.edu 37 4 122068317 122068317 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:122068317C>T ENST00000454328.1 - 9 849 c.622G>A c.(622-624)Gaa>Aaa p.E208K TNIP3_ENST00000057513.3_Missense_Mutation_p.E208K|TNIP3_ENST00000509841.1_Missense_Mutation_p.E285K|TNIP3_ENST00000511909.1_5'UTR|TNIP3_ENST00000507879.1_Missense_Mutation_p.E278K Q96KP6 TNIP3_HUMAN TNFAIP3 interacting protein 3 208 NS(1)|endometrium(4)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(2) 24 AAGTCTTCTTCGTATATTTGC 0.368000 73 84 0 0 1 0 0 RBP3 5949 broad.mit.edu 37 10 48387854 48387854 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:48387854C>T ENST00000224600.4 - 1 3137 c.3024G>A c.(3022-3024)aaG>aaA p.K1008K NM_002900.2 NP_002891.1 P10745 RET3_HUMAN retinol binding protein 3, interstitial 1008 4 X approximate tandem repeats. lipid metabolic process|proteolysis|transport|visual perception interphotoreceptor matrix retinal binding|serine-type peptidase activity p.K1008N(1) central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 59 Vitamin A(DB00162) GAATGCGGTCCTTGGCATTCT 0.597000 51 118 0 0 1 0 0 GPX1 2876 broad.mit.edu 37 3 49395136 49395136 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:49395136G>A ENST00000419783.1 - 2 618 c.297C>T c.(295-297)gtC>gtT p.V99V GPX1_ENST00000496791.1_5'UTR|GPX1_ENST00000419349.1_3'UTR NM_000581.2 NP_000572.2 P07203 GPX1_HUMAN glutathione peroxidase 1 99 anti-apoptosis|cell redox homeostasis|glutathione metabolic process|heart contraction|hydrogen peroxide catabolic process|negative regulation of caspase activity|purine base metabolic process|purine nucleotide catabolic process|regulation of gene expression, epigenetic|regulation of mammary gland epithelial cell proliferation|regulation of proteasomal protein catabolic process|release of cytochrome c from mitochondria|response to selenium ion|UV protection cytosol|mitochondrion endopeptidase inhibitor activity|glutathione peroxidase activity|SH3 domain binding breast(1)|large_intestine(2)|lung(1) 4 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244) Glutathione(DB00143) CACCAGGCCGGACGTACTTGA 0.592000 42 101 0 0 1 0 0 SRCAP 10847 broad.mit.edu 37 16 30744681 30744681 + Nonsense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr16:30744681C>T ENST00000262518.4 + 28 6593 c.6208C>T c.(6208-6210)Cga>Tga p.R2070* SRCAP_ENST00000344771.4_Nonsense_Mutation_p.R1912*|SRCAP_ENST00000395059.2_Nonsense_Mutation_p.R2008* NM_006662.2 NP_006653.2 Q6ZRS2 SRCAP_HUMAN Snf2-related CREBBP activator protein 2070 Helicase C-terminal. interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent Golgi apparatus|nucleus|protein complex ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity p.R2070R(1) NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5) 136 Colorectal(24;0.198) CCAGATGACCCGAATGCTGGA 0.522000 42 91 0 0 1 0 0 SDF4 51150 broad.mit.edu 37 1 1158687 1158687 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:1158687G>A ENST00000263741.7 - 4 806 c.514C>T c.(514-516)Cat>Tat p.H172Y SDF4_ENST00000360001.6_Missense_Mutation_p.H172Y|SDF4_ENST00000545427.1_Missense_Mutation_p.H172Y NM_016176.3|NM_016547.2 NP_057260.2|NP_057631.1 Q9BRK5 CAB45_HUMAN stromal cell derived factor 4 172 EF-hand 2. cerebellum development|fat cell differentiation|response to ethanol|UV protection|zymogen granule exocytosis bleb|Golgi lumen|late endosome|soluble fraction calcium ion binding|identical protein binding|protein binding endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1) 11 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) Epithelial(90;7.85e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.42e-21)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;4.83e-05)|Kidney(185;0.00252)|BRCA - Breast invasive adenocarcinoma(365;0.00263)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0368)|Lung(427;0.204) TTCTCGCTATGGCCTTTACTC 0.547000 51 70 0 0 1 0 0 B3GNT7 93010 broad.mit.edu 37 2 232263148 232263148 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:232263148G>A ENST00000287590.5 + 2 979 c.718G>A c.(718-720)Gac>Aac p.D240N NM_145236.2 NP_660279.1 Q8NFL0 B3GN7_HUMAN UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 7 240 protein glycosylation Golgi membrane|integral to membrane galactosyltransferase activity endometrium(2)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(1) 17 Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)|Medulloblastoma(418;0.232) Epithelial(121;3.22e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0139) TTTCAAAGGCGACGATGACGT 0.562000 77 94 0 0 1 0 0 CDH23 64072 broad.mit.edu 37 10 73462428 73462428 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:73462428C>T ENST00000224721.6 + 23 2730 c.2725C>T c.(2725-2727)Ccg>Tcg p.P909S CDH23_ENST00000299366.7_Missense_Mutation_p.P949S NM_022124.5 NP_071407.4 Q9H251 CAD23_HUMAN cadherin-related 23 904 Cadherin 9. calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound cytosol|integral to membrane|plasma membrane|stereocilium calcium ion binding|protein binding NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3) 133 TGAAGGCATCCCGGCGGGGGT 0.557000 44 93 0 0 1 0 0 CXCR4 7852 broad.mit.edu 37 2 136873010 136873010 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:136873010G>A ENST00000409817.1 - 1 803 c.500C>T c.(499-501)cCt>cTt p.P167L CXCR4_ENST00000466288.1_5'UTR|CXCR4_ENST00000241393.3_Missense_Mutation_p.P163L NM_001008540.1 NP_001008540.1 P61073 CXCR4_HUMAN chemokine (C-X-C motif) receptor 4 163 activation of MAPK activity|apoptosis|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|entry into host cell|inflammatory response|initiation of viral infection|regulation of chemotaxis|response to hypoxia|response to virus cell leading edge|cell surface|cytoplasmic membrane-bounded vesicle|integral to membrane|plasma membrane actin binding|C-X-C chemokine receptor activity|coreceptor activity|myosin light chain binding|ubiquitin binding|ubiquitin protein ligase binding p.P167H(1) haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 BRCA - Breast invasive adenocarcinoma(221;0.155) Framycetin(DB00452) CAGGAGGGCAGGGATCCAGAC 0.542000 79 173 0 0 1 0 0 IRAK2 3656 broad.mit.edu 37 3 10242081 10242081 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:10242081C>T ENST00000256458.4 + 3 396 c.306C>T c.(304-306)ccC>ccT p.P102P NM_001570.3 NP_001561.3 O43187 IRAK2_HUMAN interleukin-1 receptor-associated kinase 2 102 activation of MAPK activity|I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|interleukin-1-mediated signaling pathway|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of NF-kappaB transcription factor activity|positive regulation of NF-kappaB transcription factor activity|regulation of cytokine-mediated signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cell surface|cytosol|endosome membrane|plasma membrane ATP binding|NF-kappaB-inducing kinase activity|protein heterodimerization activity|protein homodimerization activity breast(4)|large_intestine(8)|lung(11)|prostate(1)|stomach(1) 25 TCAGGTGTCCCATTCCAGCCT 0.498000 18 223 0 0 1 0 0 LRFN2 57497 broad.mit.edu 37 6 40400544 40400544 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:40400544G>A ENST00000338305.6 - 2 851 c.309C>T c.(307-309)cgC>cgT p.R103R NM_020737.1 NP_065788.1 Q9ULH4 LRFN2_HUMAN leucine rich repeat and fibronectin type III domain containing 2 103 cell junction|integral to membrane|postsynaptic membrane breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 58 Ovarian(28;0.0418)|Colorectal(47;0.196) GATGCAGGGAGCGGAGGCTCT 0.597000 25 74 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 8999437 8999437 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:8999437C>T ENST00000397910.4 - 56 40941 c.40738G>A c.(40738-40740)Gag>Aag p.E13580K MUC16_ENST00000380951.5_Missense_Mutation_p.E221K NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 13582 SEA 10. Missing (in Ref. 3; AAK74120). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 GGGCCCAGCTCAGTGATGCTG 0.567000 17 434 0 0 1 0 0 POLDIP3 84271 broad.mit.edu 37 22 42988046 42988046 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr22:42988046G>A ENST00000252115.5 - 7 1040 c.936C>T c.(934-936)gtC>gtT p.V312V POLDIP3_ENST00000451060.2_Silent_p.V156V|POLDIP3_ENST00000491021.1_5'UTR|POLDIP3_ENST00000348657.2_Silent_p.V283V|POLDIP3_ENST00000339677.6_Intron NM_032311.3 NP_115687.2 Q9BY77 PDIP3_HUMAN polymerase (DNA-directed), delta interacting protein 3 312 RRM. positive regulation of translation cytoplasm|nuclear speck nucleotide binding|protein binding|RNA binding biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|upper_aerodigestive_tract(1) 16 CCCCAGGATGGACCAGTCGAG 0.542000 53 197 0 0 1 0 0 C3orf58 205428 broad.mit.edu 37 3 143691430 143691430 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:143691430C>T ENST00000315691.3 + 1 791 c.256C>T c.(256-258)Ctc>Ttc p.L86F NM_173552.3 NP_775823.1 Q8NDZ4 CC058_HUMAN chromosome 3 open reading frame 58 86 COPI vesicle coat|extracellular region breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 GCTGGACTTCCTCAACGTGAA 0.692000 33 92 0 0 1 0 0 BAI3 577 broad.mit.edu 37 6 70064183 70064183 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:70064183C>T ENST00000370598.1 + 27 4339 c.3518C>T c.(3517-3519)tCt>tTt p.S1173F BAI3_ENST00000546190.1_Missense_Mutation_p.S137F|BAI3_ENST00000238918.8_Missense_Mutation_p.S379F NM_001704.2 NP_001695.1 O60242 BAI3_HUMAN brain-specific angiogenesis inhibitor 3 1173 Poly-Ser. negative regulation of angiogenesis|neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 210 all_lung(197;0.212) AATGCAGATTCTTCGAGTTCG 0.383000 86 51 0 0 1 0 0 ENPP3 5169 broad.mit.edu 37 6 132004259 132004259 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:132004259G>A ENST00000414305.1 + 13 1405 c.1077G>A c.(1075-1077)cgG>cgA p.R359R ENPP3_ENST00000358229.5_Silent_p.R359R|ENPP3_ENST00000357639.3_Silent_p.R359R O14638 ENPP3_HUMAN ectonucleotide pyrophosphatase/phosphodiesterase 3 359 Phosphodiesterase. immune response|nucleoside triphosphate catabolic process|phosphate metabolic process extracellular region|integral to plasma membrane|perinuclear region of cytoplasm metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 53 Breast(56;0.0753) GBM - Glioblastoma multiforme(226;0.0252)|OV - Ovarian serous cystadenocarcinoma(155;0.0511) TGAAGCAGCGGAATTTGCACA 0.348000 87 54 0 0 1 0 0 NOVA1 4857 broad.mit.edu 37 14 26917959 26917959 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr14:26917959C>T ENST00000539517.2 - 5 1047 c.730G>A c.(730-732)Gat>Aat p.D244N NOVA1_ENST00000267422.7_Missense_Mutation_p.D122N|NOVA1_ENST00000465357.2_Missense_Mutation_p.D220N NM_002515.2 NP_002506.2 P51513 NOVA1_HUMAN neuro-oncological ventral antigen 1 247 locomotory behavior|RNA splicing|synaptic transmission nucleus RNA binding breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 40 GBM - Glioblastoma multiforme(265;0.0135) CTTTGTGGATCCTCTTGTATC 0.453000 56 115 0 0 1 0 0 B3GNT4 79369 broad.mit.edu 37 12 122690945 122690945 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:122690945G>A ENST00000535274.1 + 1 1799 c.72G>A c.(70-72)ctG>ctA p.L24L B3GNT4_ENST00000324189.4_Silent_p.L49L|B3GNT4_ENST00000545141.1_Intron|B3GNT4_ENST00000546192.1_Silent_p.L24L Q9C0J1 B3GN4_HUMAN UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 4 49 protein glycosylation Golgi membrane|integral to membrane galactosyltransferase activity NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 13 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000297)|Epithelial(86;0.000497)|BRCA - Breast invasive adenocarcinoma(302;0.222) TGCTCTTCCTGAGGAAGGCGG 0.657000 9 177 0 0 1 0 0 CSMD2 114784 broad.mit.edu 37 1 34090139 34090139 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:34090139G>A ENST00000373381.4 - 35 5781 c.5605C>T c.(5605-5607)Ccc>Tcc p.P1869S CSMD2_ENST00000373377.1_5'UTR|CSMD2_ENST00000373380.1_Missense_Mutation_p.P742S|CSMD2_ENST00000373388.2_5'UTR NM_052896.3 NP_443128.2 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 1829 CUB 11. integral to membrane|plasma membrane protein binding NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1) 246 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) GCGCCTTCGGGGACCACGATC 0.647000 36 93 0 0 1 0 0 ERCC6 2074 broad.mit.edu 37 10 50678864 50678864 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:50678864G>A ENST00000355832.5 - 18 3220 c.3142C>T c.(3142-3144)Cat>Tat p.H1048Y ERCC6_ENST00000542458.1_Missense_Mutation_p.H418Y|RP11-123B3.2_ENST00000423283.1_RNA NM_000124.2 NP_000115.1 Q03468 ERCC6_HUMAN excision repair cross-complementing rodent repair deficiency, complementation group 6 1048 base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair nucleolus|soluble fraction|transcription elongation factor complex ATP binding|chromatin binding|DNA binding|DNA-dependent ATPase activity|helicase activity|protein C-terminus binding|protein complex binding|protein N-terminus binding breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 GGAACATCATGGTCTGCTCCA 0.408000 Direct reversal of damage;Nucleotide excision repair (NER) 69 123 0 0 1 0 0 IKBKB 3551 broad.mit.edu 37 8 42166522 42166522 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:42166522C>T ENST00000520810.1 + 8 857 c.671C>T c.(670-672)cCc>cTc p.P224L IKBKB_ENST00000522147.1_Intron|IKBKB_ENST00000379708.3_Intron|IKBKB_ENST00000519735.1_Missense_Mutation_p.P224L|IKBKB_ENST00000520835.1_Missense_Mutation_p.P222L|IKBKB_ENST00000416505.2_Missense_Mutation_p.P165L NM_001556.2 NP_001547.1 O14920 IKKB_HUMAN inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta 224 Protein kinase. anti-apoptosis|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway CD40 receptor complex|cytosol|internal side of plasma membrane|membrane raft ATP binding|identical protein binding|IkappaB kinase activity breast(4)|lung(1)|ovary(2)|skin(1) 8 all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;6.21e-12)|Lung NSC(13;1.04e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211) all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954) BRCA - Breast invasive adenocarcinoma(8;1.37e-10)|Colorectal(10;0.00102)|OV - Ovarian serous cystadenocarcinoma(14;0.00168)|Lung(22;0.00467)|LUSC - Lung squamous cell carcinoma(45;0.024)|COAD - Colon adenocarcinoma(11;0.0264) Arsenic trioxide(DB01169)|Auranofin(DB00995) CCCTTCCTCCCCAACTGGCAG 0.627000 92 158 0 0 1 0 0 CARD11 84433 broad.mit.edu 37 7 2946462 2946462 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:2946462C>T ENST00000396946.4 - 25 3678 c.3275G>A c.(3274-3276)cGa>cAa p.R1092Q NM_032415.4 NP_115791.3 Q9BXL7 CAR11_HUMAN caspase recruitment domain family, member 11 1092 Guanylate kinase-like. positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway cytosol|membrane raft|plasma membrane CARD domain binding|guanylate kinase activity NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2) 150 Ovarian(82;0.0115) OV - Ovarian serous cystadenocarcinoma(56;8.44e-14) CGTCTCAGGTCGGGGCAGCAG 0.682000 Mis DLBCL 21 31 0 0 1 0 0 HEMGN 55363 broad.mit.edu 37 9 100698530 100698530 + Nonsense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:100698530C>T ENST00000259456.3 - 3 239 c.96G>A c.(94-96)tgG>tgA p.W32* NM_018437.3|NM_197978.2 NP_060907.2|NP_932095.1 Q9BXL5 HEMGN_HUMAN hemogen 32 Necessary for nuclear localization. cell differentiation|multicellular organismal development NS(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|skin(2)|urinary_tract(1) 27 Acute lymphoblastic leukemia(62;0.0559) TTCTCAAACTCCAGGTTCCAA 0.388000 30 94 0 0 1 0 0 HCRTR2 3062 broad.mit.edu 37 6 55147110 55147110 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:55147110G>A ENST00000370862.3 + 7 1529 c.1193G>A c.(1192-1194)cGa>cAa p.R398Q NM_001526.3 NP_001517.2 O43614 OX2R_HUMAN hypocretin (orexin) receptor 2 398 feeding behavior integral to plasma membrane neuropeptide receptor activity breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 46 Lung NSC(77;0.107)|Renal(3;0.122) LUSC - Lung squamous cell carcinoma(124;0.23) ACCAGGGGACGAACTAGCACA 0.468000 21 58 0 0 1 0 0 ALG2 85365 broad.mit.edu 37 9 101980835 101980835 + Missense_Mutation SNP A A T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:101980835A>T ENST00000476832.1 - 2 693 c.632T>A c.(631-633)gTt>gAt p.V211D ALG2_ENST00000319033.6_Missense_Mutation_p.V118D NM_033087.3 NP_149078.1 Q9H553 ALG2_HUMAN ALG2, alpha-1,3/1,6-mannosyltransferase 211 dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein glycosylation in endoplasmic reticulum|protein N-linked glycosylation via asparagine|response to calcium ion endoplasmic reticulum membrane|integral to membrane|membrane fraction|nucleus|perinuclear region of cytoplasm alpha-1,3-mannosyltransferase activity|calcium-dependent protein binding|glycolipid 3-alpha-mannosyltransferase activity|protein anchor|protein heterodimerization activity|protein N-terminus binding breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(11)|ovary(2)|prostate(2) 22 Acute lymphoblastic leukemia(62;0.0559) TTCAGGAACAACTGAGTCAAA 0.443000 33 67 0 0 1 0 0 TIMELESS 8914 broad.mit.edu 37 12 56812125 56812125 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:56812125G>A ENST00000229201.4 - 27 3398 c.3244C>T c.(3244-3246)Cca>Tca p.P1082S TIMELESS_ENST00000553532.1_Missense_Mutation_p.P1083S|TIMELESS_ENST00000554616.1_Missense_Mutation_p.P580S NM_003920.3 NP_003911.2 Q9UNS1 TIM_HUMAN timeless circadian clock 1083 cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent nuclear chromatin NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1) 49 AGCTTGGCTGGAATTCGCCAG 0.498000 75 117 0 0 1 0 0 NOBOX 135935 broad.mit.edu 37 7 144098647 144098647 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:144098647C>T ENST00000467773.1 - 4 335 c.336G>A c.(334-336)gaG>gaA p.E112E NOBOX_ENST00000223140.5_Silent_p.E27E|NOBOX_ENST00000483238.1_Silent_p.E112E NM_001080413.3 NP_001073882.3 O60393 NOBOX_HUMAN NOBOX oogenesis homeobox 112 cell differentiation|oogenesis nucleus sequence-specific DNA binding NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1) 26 Melanoma(164;0.14) GCAGTTCCTCCTCCCCGGGTC 0.617000 38 75 0 0 1 0 0 TNFAIP2 7127 broad.mit.edu 37 14 103597437 103597437 + Silent SNP G G A rs149002647 TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr14:103597437G>A ENST00000560869.1 + 7 1887 c.1248G>A c.(1246-1248)acG>acA p.T416T TNFAIP2_ENST00000451723.2_Silent_p.T85T|TNFAIP2_ENST00000333007.1_Silent_p.T416T Q03169 TNAP2_HUMAN tumor necrosis factor, alpha-induced protein 2 416 angiogenesis|cell differentiation extracellular space NS(1)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1) 11 Melanoma(154;0.155) Epithelial(46;0.191) AGCAGCTGACGAATTACAGGG 0.562000 65 131 0 0 1 0 0 CSPG4 1464 broad.mit.edu 37 15 75982424 75982424 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr15:75982424C>T ENST00000308508.5 - 3 1074 c.982G>A c.(982-984)Gat>Aat p.D328N NM_001897.4 NP_001888.2 Q6UVK1 CSPG4_HUMAN chondroitin sulfate proteoglycan 4 328 Globular or compact configuration stabilized by disulfide bonds.|Laminin G-like 2.|Neurite growth inhibition (By similarity). angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane protein kinase binding|signal transducer activity breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4) 48 GCCTCTGCATCCAGCCCCCCG 0.627000 11 31 0 0 1 0 0 TRPV2 51393 broad.mit.edu 37 17 16326061 16326061 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:16326061C>T ENST00000338560.7 + 4 882 c.483C>T c.(481-483)taC>taT p.Y161Y TRPV2_ENST00000577397.1_5'UTR NM_016113.4 NP_057197.2 Q9Y5S1 TRPV2_HUMAN transient receptor potential cation channel, subfamily V, member 2 161 Required for interaction with SLC50A1 (By similarity). sensory perception integral to plasma membrane|melanosome calcium channel activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|stomach(3) 28 UCEC - Uterine corpus endometrioid carcinoma (92;0.0837) ATGACTATTACCGAGGCCACA 0.582000 4 12 0 0 1 0 0 KRT12 3859 broad.mit.edu 37 17 39021101 39021101 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:39021101C>T ENST00000251643.4 - 3 787 c.764G>A c.(763-765)aGc>aAc p.S255N NM_000223.3 NP_000214.1 Q99456 K1C12_HUMAN keratin 12 255 Coil 1B.|Rod. visual perception intermediate filament structural molecule activity central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(2) 15 Breast(137;0.000301) CTCGTTCAGGCTCTCGATCTG 0.587000 66 118 0 0 1 0 0 TMEM132E 124842 broad.mit.edu 37 17 32953963 32953963 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:32953963G>A ENST00000321639.5 + 3 943 c.615G>A c.(613-615)atG>atA p.M205I NM_207313.1 NP_997196.1 Q6IEE7 T132E_HUMAN transmembrane protein 132E 205 integral to membrane breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(28)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 57 BRCA - Breast invasive adenocarcinoma(366;0.231) GCAACCTGATGATCCGCCTGC 0.692000 26 71 0 0 1 0 0 FAT4 79633 broad.mit.edu 37 4 126411262 126411262 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:126411262G>A ENST00000394329.3 + 17 13298 c.13285G>A c.(13285-13287)Gac>Aac p.D4429N FAT4_ENST00000335110.5_Missense_Mutation_p.D2670N NM_024582.4 NP_078858.4 Q6V0I7 FAT4_HUMAN FAT atypical cadherin 4 4429 EGF-like 6. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6) 355 CCCTCCTGGGGACTGTGCCTC 0.612000 42 94 0 0 1 0 0 GLB1L3 112937 broad.mit.edu 37 11 134162042 134162042 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:134162042G>A ENST00000389887.5 + 8 3242 c.746G>A c.(745-747)gGg>gAg p.G249E GLB1L3_ENST00000431683.2_Missense_Mutation_p.G249E Q8NCI6 GLBL3_HUMAN galactosidase, beta 1-like 3 249 carbohydrate metabolic process cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|pancreas(1) 13 all_hematologic(175;0.127) all_cancers(12;5.52e-23)|all_epithelial(12;2.15e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|all_neural(223;0.0182)|Medulloblastoma(222;0.0208)|Esophageal squamous(93;0.0559) Epithelial(10;1.3e-11)|all cancers(11;2.07e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000873)|Lung(977;0.222) CTGAGAAGAGGGATTGTGGAG 0.453000 14 16 0 0 1 0 0 TFAP4 7023 broad.mit.edu 37 16 4310097 4310097 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr16:4310097G>A ENST00000204517.6 - 6 1144 c.816C>T c.(814-816)atC>atT p.I272I NM_003223.2 NP_003214.1 Q01664 TFAP4_HUMAN transcription factor AP-4 (activating enhancer binding protein 4) 272 DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|negative regulation by host of viral transcription|negative regulation of cell cycle arrest|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|positive regulation by host of viral transcription|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|regulation of S phase of mitotic cell cycle transcriptional repressor complex E-box binding|histone deacetylase binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity NS(1)|endometrium(2)|lung(8)|ovary(1)|prostate(1)|skin(1) 14 GTACCTGCACGATGGTGTCCA 0.582000 37 96 0 0 1 0 0 TACC2 10579 broad.mit.edu 37 10 123903214 123903214 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:123903214C>T ENST00000369005.1 + 7 6167 c.5827C>T c.(5827-5829)Ctc>Ttc p.L1943F TACC2_ENST00000358010.1_Intron|TACC2_ENST00000515603.1_Intron|TACC2_ENST00000369001.1_Intron|TACC2_ENST00000334433.3_Missense_Mutation_p.L1943F|TACC2_ENST00000515273.1_Intron|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000369000.1_Intron|TACC2_ENST00000453444.2_Intron|TACC2_ENST00000493951.1_3'UTR NM_206862.2 NP_996744.2 O95359 TACC2_HUMAN transforming, acidic coiled-coil containing protein 2 1943 microtubule organizing center|nucleus nuclear hormone receptor binding NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 83 all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197) GGCCAAGGACCTCAGCAGGTA 0.622000 34 75 0 0 1 0 0 GRP 2922 broad.mit.edu 37 18 56897671 56897671 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr18:56897671G>A ENST00000256857.2 + 3 516 c.418G>A c.(418-420)Gga>Aga p.G140R GRP_ENST00000420468.2_Missense_Mutation_p.G133R|GRP_ENST00000529320.2_Silent_p.K133K NM_001012512.1|NM_002091.3 NP_001012530.1|NP_002082.2 P07492 GRP_HUMAN gastrin-releasing peptide 140 neuropeptide signaling pathway extracellular space neuropeptide hormone activity large_intestine(1)|lung(3) 4 Colorectal(73;0.0946) TCAACGTGAAGGAAGGAACCC 0.428000 31 80 0 0 1 0 0 GRIP2 80852 broad.mit.edu 37 3 14581850 14581850 + RNA SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:14581850C>T ENST00000273083.3 - 0 31 Q9C0E4 GRIP2_HUMAN glutamate receptor interacting protein 2 synaptic transmission cytosol|plasma membrane protein binding endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1) 25 CCACCAACTCCCTCGGGAGCC 0.677000 10 15 0 0 1 0 0 DOCK7 85440 broad.mit.edu 37 1 63018551 63018551 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:63018551G>A ENST00000251157.5 - 22 2651 c.2618C>T c.(2617-2619)tCa>tTa p.S873L DOCK7_ENST00000340370.5_Missense_Mutation_p.S873L NM_001271999.1 NP_001258928.1 Q96N67 DOCK7_HUMAN dedicator of cytokinesis 7 873 activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation axon|basal part of cell|growth cone GTP binding|guanyl-nucleotide exchange factor activity|Rac GTPase binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 92 ATAATGCACTGATCCTCCCAA 0.398000 5 88 0 0 1 0 0 PRIMA1 145270 broad.mit.edu 37 14 94187873 94187873 + Missense_Mutation SNP C C T rs141491542 TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr14:94187873C>T ENST00000393140.1 - 5 481 c.379G>A c.(379-381)Gaa>Aaa p.E127K PRIMA1_ENST00000393143.1_Missense_Mutation_p.E127K|PRIMA1_ENST00000316227.3_3'UTR NM_178013.3 NP_821092.1 Q86XR5 PRIMA_HUMAN proline rich membrane anchor 1 127 neurotransmitter catabolic process cell junction|integral to membrane|synapse p.E127K(1) endometrium(1)|large_intestine(2)|lung(3)|skin(1) 7 all_cancers(154;0.127) Epithelial(152;0.138)|COAD - Colon adenocarcinoma(157;0.229) GTGCCATTTTCGTCTTTTCTC 0.547000 15 43 0 0 1 0 0 SCN11A 11280 broad.mit.edu 37 3 38913741 38913741 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:38913741G>A ENST00000302328.3 - 20 3636 c.3438C>T c.(3436-3438)ttC>ttT p.F1146F SCN11A_ENST00000444237.2_Silent_p.F1146F|SCN11A_ENST00000456224.3_Silent_p.F1108F|SCN11A_ENST00000450244.1_Silent_p.F1146F NM_014139.2 NP_054858.2 Q9UI33 SCNBA_HUMAN sodium channel, voltage-gated, type XI, alpha subunit 1146 response to drug voltage-gated sodium channel complex voltage-gated sodium channel activity NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3) 119 Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226) Cocaine(DB00907) GTAGAGTCCGGAAGGACTTCA 0.478000 63 133 0 0 1 0 0 CSMD2 114784 broad.mit.edu 37 1 34038279 34038279 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:34038279C>T ENST00000373381.4 - 50 7765 c.7589G>A c.(7588-7590)gGg>gAg p.G2530E NM_052896.3 NP_443128.2 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 2532 Sushi 15. integral to membrane|plasma membrane protein binding NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1) 246 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) CTCAGGAAGCCCACAGGAAAG 0.483000 36 75 0 0 1 0 0 ABCA4 24 broad.mit.edu 37 1 94480187 94480187 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:94480187G>A ENST00000370225.3 - 38 5458 c.5372C>T c.(5371-5373)gCc>gTc p.A1791V ABCA4_ENST00000536513.1_Missense_Mutation_p.A61V NM_000350.2 NP_000341.2 P78363 ABCA4_HUMAN ATP-binding cassette, sub-family A (ABC1), member 4 1791 phototransduction, visible light|visual perception integral to plasma membrane|membrane fraction ATP binding|ATPase activity, coupled to transmembrane movement of substances NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2) 147 all_lung(203;0.000757)|Lung NSC(277;0.00335) all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171) AGCCACATAGGCTGTGCTGGG 0.453000 68 178 0 0 1 0 0 PVRL4 81607 broad.mit.edu 37 1 161042573 161042573 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:161042573C>T ENST00000368012.3 - 9 1713 c.1411G>A c.(1411-1413)Gag>Aag p.E471K PVRL4_ENST00000453926.2_Missense_Mutation_p.E180K|PVRL4_ENST00000486694.1_5'UTR NM_030916.2 NP_112178.2 Q96NY8 PVRL4_HUMAN poliovirus receptor-related 4 471 adherens junction organization|cell adhesion|cell junction assembly adherens junction|extracellular region|integral to membrane breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|urinary_tract(1) 20 all_cancers(52;8.9e-20)|Breast(13;0.00188)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00165) TGATCTTCCTCCTCCTCGGCC 0.567000 44 105 0 0 1 0 0 NBAS 51594 broad.mit.edu 37 2 15555702 15555702 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:15555702G>A ENST00000281513.5 - 25 2930 c.2905C>T c.(2905-2907)Ccc>Tcc p.P969S NBAS_ENST00000441750.1_Intron NM_015909.3 NP_056993.2 A2RRP1 NBAS_HUMAN neuroblastoma amplified sequence 969 NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3) 112 ATCTTCAGGGGAAATTTTAAG 0.358000 35 81 0 0 1 0 0 DGKZ 8525 broad.mit.edu 37 11 46393660 46393660 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:46393660C>T ENST00000454345.1 + 11 1556 c.1431C>T c.(1429-1431)acC>acT p.T477T DGKZ_ENST00000532868.2_Silent_p.T293T|DGKZ_ENST00000543978.1_Intron|DGKZ_ENST00000528615.1_Silent_p.T67T|DGKZ_ENST00000318201.8_Silent_p.T266T|DGKZ_ENST00000527911.1_Silent_p.T289T|DGKZ_ENST00000343674.6_Silent_p.T305T|DGKZ_ENST00000421244.2_Silent_p.T289T|DGKZ_ENST00000395574.3_Silent_p.T255T|DGKZ_ENST00000456247.2_Silent_p.T288T NM_001105540.1 NP_001099010.1 Q13574 DGKZ_HUMAN diacylglycerol kinase, zeta 477 Mediates interaction with RASGRP1. activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell migration|intracellular signal transduction|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of mitotic cell cycle|platelet activation cytoplasm|lamellipodium|nucleus|plasma membrane ATP binding|diacylglycerol kinase activity|lipid kinase activity|metal ion binding|protein binding|protein C-terminus binding central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|pancreas(1)|prostate(1)|skin(1) 25 GBM - Glioblastoma multiforme(35;0.0259)|Lung(87;0.141) TCAGGCCCACCCCCTCCCCGC 0.632000 12 22 0 0 1 0 0 ADCYAP1 116 broad.mit.edu 37 18 905486 905486 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr18:905486C>T ENST00000579794.1 + 1 377 c.99C>T c.(97-99)ttC>ttT p.F33F RP11-672L10.3_ENST00000582554.1_RNA|RP11-672L10.2_ENST00000577358.1_RNA|RP11-672L10.2_ENST00000581719.1_RNA|ADCYAP1_ENST00000450565.3_Silent_p.F33F NM_001117.3 NP_001108.2 P18509 PACA_HUMAN adenylate cyclase activating polypeptide 1 (pituitary) 33 activation of adenylate cyclase activity|cell-cell signaling|female pregnancy|nerve growth factor receptor signaling pathway|regulation of G-protein coupled receptor protein signaling pathway extracellular region|soluble fraction neuropeptide hormone activity|peptide hormone receptor binding endometrium(1)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1) 12 GACTCCGGTTCCCCGGGATCA 0.632000 42 104 0 0 1 0 0 OR5H2 79310 broad.mit.edu 37 3 98001749 98001749 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:98001749G>A ENST00000355273.2 + 1 18 c.18G>A c.(16-18)atG>atA p.M6I RP11-325B23.2_ENST00000508616.1_lincRNA NM_001005482.1 NP_001005482.1 Q8NGV7 OR5H2_HUMAN olfactory receptor, family 5, subfamily H, member 2 6 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(1)|large_intestine(5)|lung(13)|ovary(3)|upper_aerodigestive_tract(1) 24 ATGAGGACATGGAACAGGATA 0.408000 71 158 0 0 1 0 0 TIAM1 7074 broad.mit.edu 37 21 32617855 32617855 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr21:32617855C>T ENST00000286827.3 - 7 2004 c.1533G>A c.(1531-1533)aaG>aaA p.K511K TIAM1_ENST00000541036.1_Silent_p.K511K|TIAM1_ENST00000469412.1_5'UTR NM_003253.2 NP_003244.2 Q13009 TIAM1_HUMAN T-cell lymphoma invasion and metastasis 1 511 PH 1. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cell-cell junction|cytosol receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2) 115 AGACAAAGTCCTTCTTGGGGT 0.547000 19 56 0 0 1 0 0 NTN4 59277 broad.mit.edu 37 12 96180875 96180875 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:96180875C>T ENST00000343702.4 - 2 875 c.427G>A c.(427-429)Gtg>Atg p.V143M NTN4_ENST00000344911.4_Missense_Mutation_p.V106M|NTN4_ENST00000553059.1_Missense_Mutation_p.V143M|NTN4_ENST00000538383.1_Missense_Mutation_p.V106M NM_021229.3 NP_067052.2 Q9HB63 NET4_HUMAN netrin 4 143 Laminin N-terminal. axon guidance basement membrane|plasma membrane NS(2)|breast(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 25 CGGTCCAGCACCATGGCAGCC 0.493000 27 60 0 0 1 0 0 PCDHB12 56124 broad.mit.edu 37 5 140589763 140589763 + Silent SNP C C A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:140589763C>A ENST00000239450.2 + 1 1473 c.1284C>A c.(1282-1284)acC>acA p.T428T PCDHB12_ENST00000541609.1_Silent_p.T91T NM_018932.3 NP_061755.1 Q9Y5F1 PCDBC_HUMAN 428 Cadherin 4. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1) 83 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) ACTTGGGGACCCCCAGGCTAA 0.547000 51 151 2.31418e-15 2.3332e-15 1 1 0 PPP1R16B 26051 broad.mit.edu 37 20 37464782 37464782 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr20:37464782C>T ENST00000299824.1 + 2 403 c.214C>T c.(214-216)Ctg>Ttg p.L72L PPP1R16B_ENST00000468265.1_3'UTR|PPP1R16B_ENST00000373331.2_Silent_p.L72L NM_015568.2 NP_056383.1 Q96T49 PP16B_HUMAN protein phosphatase 1, regulatory subunit 16B 72 regulation of filopodium assembly|signal transduction nucleus|plasma membrane protein phosphatase binding biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(23)|prostate(2)|skin(4)|upper_aerodigestive_tract(2) 49 Myeloproliferative disorder(115;0.00878) CAGCGTGGCCCTGCTGGAGGC 0.652000 23 51 0 0 1 0 0 SMAP1 60682 broad.mit.edu 37 6 71567843 71567843 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:71567843C>T ENST00000370455.3 + 10 1428 c.1180C>T c.(1180-1182)Ccc>Tcc p.P394S SMAP1_ENST00000370452.3_Missense_Mutation_p.P367S|SMAP1_ENST00000316999.5_Missense_Mutation_p.P367S|B3GAT2_ENST00000230053.6_3'UTR NM_001044305.1 NP_001037770.1 Q8IYB5 SMAP1_HUMAN small ArfGAP 1 394 P -> H (in Ref. 6; AAH36123). regulation of ARF GTPase activity plasma membrane ARF GTPase activator activity|zinc ion binding breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(1) 15 CGTTGTTGGCCCCCAAGGAGG 0.567000 29 67 0 0 1 0 0 ZNF574 64763 broad.mit.edu 37 19 42584329 42584329 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:42584329C>T ENST00000600245.1 + 2 2226 c.1571C>T c.(1570-1572)cCc>cTc p.P524L ZNF574_ENST00000222339.7_Missense_Mutation_p.P614L|ZNF574_ENST00000359044.4_Missense_Mutation_p.P524L Q6ZN55 ZN574_HUMAN zinc finger protein 574 524 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 20 Prostate(69;0.059) CGGCCCTTCCCCTGCCCTGAC 0.622000 146 324 0 0 1 0 0 FOXC2 2303 broad.mit.edu 37 16 86602406 86602406 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr16:86602406C>T ENST00000320354.4 + 1 1550 c.1465C>T c.(1465-1467)Cgc>Tgc p.R489C NM_005251.2 NP_005242.1 Q99958 FOXC2_HUMAN forkhead box C2 (MFH-1, mesenchyme forkhead 1) 489 anti-apoptosis|artery morphogenesis|blood vessel remodeling|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|embryonic viscerocranium morphogenesis|insulin receptor signaling pathway|lymphangiogenesis|metanephros development|negative regulation of transcription from RNA polymerase II promoter|neural crest cell fate commitment|Notch signaling pathway|ossification|paraxial mesodermal cell fate commitment|patterning of blood vessels|positive regulation of cell adhesion mediated by integrin|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of vascular wound healing|regulation of blood vessel size|regulation of organ growth|regulation of sequence-specific DNA binding transcription factor activity|somitogenesis|ureteric bud development|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis transcription factor complex chromatin DNA binding|DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding|transcription regulatory region DNA binding breast(1)|cervix(1)|endometrium(2)|kidney(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1) 15 GCCTCTCTATCGCCACGCAGC 0.672000 Late-onset Hereditary Lymphedema 24 16 0 0 1 0 0 DNAH9 1770 broad.mit.edu 37 17 11725780 11725780 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:11725780G>A ENST00000262442.3 + 47 8944 c.8876G>A c.(8875-8877)gGa>gAa p.G2959E DNAH9_ENST00000454412.2_Missense_Mutation_p.G2959E NM_001372.3 NP_001363.2 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 2959 AAA 4 (By similarity). cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4) 290 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) TCCCCTGTGGGAAACAAGCTA 0.542000 66 124 0 0 1 0 0 AP2A1 160 broad.mit.edu 37 19 50306587 50306587 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:50306587C>T ENST00000354293.5 + 18 2464 c.2298C>T c.(2296-2298)ttC>ttT p.F766F AP2A1_ENST00000359032.5_Silent_p.F788F NM_130787.2 NP_570603.2 O95782 AP2A1_HUMAN adaptor-related protein complex 2, alpha 1 subunit 788 axon guidance|endocytosis|epidermal growth factor receptor signaling pathway|Golgi to endosome transport|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|viral reproduction AP-2 adaptor complex|clathrin coat of trans-Golgi network vesicle|cytosol protein binding|protein transporter activity cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(2) 19 all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728) OV - Ovarian serous cystadenocarcinoma(262;0.0023)|GBM - Glioblastoma multiforme(134;0.0157) CGGTGCAGTTCCAGAATTTCT 0.602000 17 52 0 0 1 0 0 FLG 2312 broad.mit.edu 37 1 152285860 152285860 + Missense_Mutation SNP C C T rs145828067 TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:152285860C>T ENST00000368799.1 - 3 1537 c.1502G>A c.(1501-1503)cGa>cAa p.R501Q FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 501 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity p.R501Q(1) autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GGAGCTGTCTCGTGCCTGCTC 0.612000 Ichthyosis 21 753 0 0 1 0 0 PDZD2 23037 broad.mit.edu 37 5 31799831 31799831 + Splice_Site SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:31799831G>A ENST00000438447.1 + 2 864 c.476_splice c.e2+1 p.S159_splice PDZD2_ENST00000282493.3_Splice_Site_p.S159_splice O15018 PDZD2_HUMAN PDZ domain containing 2 159 PDZ 1. cell adhesion cell-cell junction|endoplasmic reticulum|extracellular region|nucleus NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 148 AGTGGGGCCAGGTAAGTAGGG 0.562000 29 72 0 0 1 0 0 MX1 4599 broad.mit.edu 37 21 42823098 42823098 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr21:42823098G>A ENST00000398600.2 + 17 2462 c.1437G>A c.(1435-1437)atG>atA p.M479I MX1_ENST00000288383.6_Missense_Mutation_p.M456I|MX1_ENST00000455164.2_Missense_Mutation_p.M479I|MX1_ENST00000398598.3_Missense_Mutation_p.M479I NM_001144925.1 NP_001138397.1 P20591 MX1_HUMAN myxovirus (influenza virus) resistance 1, interferon-inducible protein p78 (mouse) 479 induction of apoptosis|response to virus|type I interferon-mediated signaling pathway cytosol GTP binding|GTPase activity|protein binding breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 27 Prostate(19;3.18e-07)|all_epithelial(19;0.0277) GATTAGATATGGTCCGGCTTG 0.323000 7 294 0 0 1 0 0 ADAM30 11085 broad.mit.edu 37 1 120438407 120438407 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:120438407G>A ENST00000369400.1 - 1 711 c.553C>T c.(553-555)Cct>Tct p.P185S NM_021794.3 NP_068566.2 Q9UKF2 ADA30_HUMAN ADAM metallopeptidase domain 30 185 proteolysis integral to membrane metalloendopeptidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2) 38 all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234) all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138) Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117) TTCTCATAAGGGGCCATCTGC 0.423000 46 71 0 0 1 0 0 FAM71A 149647 broad.mit.edu 37 1 212799041 212799041 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:212799041G>A ENST00000294829.3 + 1 1253 c.822G>A c.(820-822)ggG>ggA p.G274G RP11-338C15.5_ENST00000427949.1_RNA NM_153606.3 NP_705834.2 Q8IYT1 FA71A_HUMAN family with sequence similarity 71, member A 274 breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(7)|liver(1)|lung(12)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 OV - Ovarian serous cystadenocarcinoma(81;0.00631)|all cancers(67;0.00981)|GBM - Glioblastoma multiforme(131;0.0715)|Epithelial(68;0.094) CAACAGGGGGGATTAAAGAGg 0.557000 111 99 0 0 1 0 0 F13A1 2162 broad.mit.edu 37 6 6174943 6174943 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:6174943G>A ENST00000264870.3 - 12 1882 c.1617C>T c.(1615-1617)acC>acT p.T539T NM_000129.3 NP_000120.2 P00488 F13A_HUMAN coagulation factor XIII, A1 polypeptide 539 peptide cross-linking|platelet activation|platelet degranulation extracellular region|platelet alpha granule lumen acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 62 Ovarian(93;0.0816) all_hematologic(90;0.152) L-Glutamine(DB00130) TGTTCCGGAAGGTGATGGAGA 0.488000 40 142 0 0 1 0 0 TENM2 57451 broad.mit.edu 37 5 167674976 167674976 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:167674976C>T ENST00000519204.1 + 26 6787 c.6669C>T c.(6667-6669)acC>acT p.T2223T TENM2_ENST00000520394.1_Silent_p.T2105T|TENM2_ENST00000518659.1_Silent_p.T2344T|TENM2_ENST00000545108.1_Silent_p.T2343T|TENM2_ENST00000403607.2_Silent_p.T2168T teneurin transmembrane protein 2 CGGAGATTACCTCACTGTACT 0.552000 48 88 0 0 1 0 0 PPP1R9B 84687 broad.mit.edu 37 17 48212945 48212945 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:48212945C>T ENST00000316878.6 - 11 2369 c.2367G>A c.(2365-2367)aaG>aaA p.K789K PPP1R9B_ENST00000501501.2_5'UTR NM_032595.3 NP_115984.3 Q96SB3 NEB2_HUMAN protein phosphatase 1, regulatory subunit 9B 789 Interacts with TGN38 (By similarity). cell cycle arrest|cell differentiation|cell migration|filopodium assembly|negative regulation of cell growth|nervous system development|regulation of cell growth by extracellular stimulus|regulation of cell proliferation|regulation of exit from mitosis|RNA splicing adherens junction|cytoskeleton|dendritic spine|filopodium|lamellipodium|nucleoplasm|protein phosphatase type 1 complex|ruffle membrane|synapse actin binding|protein phosphatase 1 binding|protein phosphatase inhibitor activity endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1) 8 CCATCTCCTCCTTTCTGGCCA 0.627000 4 15 0 0 1 0 0 FAT3 120114 broad.mit.edu 37 11 92616245 92616245 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:92616245C>T ENST00000298047.6 + 23 12640 c.12623C>T c.(12622-12624)cCg>cTg p.P4208L FAT3_ENST00000409404.2_Missense_Mutation_p.P4208L|FAT3_ENST00000533797.1_Missense_Mutation_p.P543L|FAT3_ENST00000525166.1_Missense_Mutation_p.P4058L Q8TDW7 FAT3_HUMAN FAT atypical cadherin 3 4208 homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 85 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) AATGGCATCCCGTTCCGGAAC 0.652000 TCGA Ovarian(4;0.039) 45 106 0 0 1 0 0 CD46 4179 broad.mit.edu 37 1 207940957 207940957 + Missense_Mutation SNP C C G TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:207940957C>G ENST00000358170.2 + 7 1018 c.862C>G c.(862-864)Cct>Gct p.P288A CD46_ENST00000354848.1_Intron|CD46_ENST00000367042.1_Intron|CD46_ENST00000361067.1_Missense_Mutation_p.P288A|CD46_ENST00000360212.2_Intron|CD46_ENST00000322918.5_Intron|CD46_ENST00000367041.1_Intron|CD46_ENST00000469535.1_3'UTR|CD46_ENST00000357714.1_Intron|CD46_ENST00000480003.1_Intron|CD46_ENST00000441839.2_Intron|CD46_ENST00000322875.4_Missense_Mutation_p.P288A|CD46_ENST00000367047.1_Missense_Mutation_p.P225A NM_002389.4 NP_002380.3 P15529 MCP_HUMAN CD46 molecule, complement regulatory protein 288 complement activation, classical pathway|innate immune response|interspecies interaction between organisms|single fertilization inner acrosomal membrane|integral to plasma membrane protein binding|receptor activity breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1) 19 CCTAGTGCTGCCTCCATCTAG 0.343000 72 198 0 0 1 0 0 ZNF555 148254 broad.mit.edu 37 19 2853117 2853117 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:2853117C>T ENST00000334241.4 + 4 1192 c.1054C>T c.(1054-1056)Ctc>Ttc p.L352F ZNF555_ENST00000591539.1_Missense_Mutation_p.L351F|AC006130.3_ENST00000589365.1_RNA NM_001172775.1|NM_152791.4 NP_001166246.1|NP_690004.4 Q8NEP9 ZN555_HUMAN zinc finger protein 555 352 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(3)|urinary_tract(4) 23 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CTTCATTTATCTCCAGTCCTT 0.443000 19 59 0 0 1 0 0 CCDC134 79879 broad.mit.edu 37 22 42209790 42209790 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr22:42209790C>T ENST00000255784.5 + 6 632 c.528C>T c.(526-528)tcC>tcT p.S176S CCDC134_ENST00000402061.3_Intron NM_024821.2 NP_079097.1 Q9H6E4 CC134_HUMAN coiled-coil domain containing 134 176 extracellular region large_intestine(1)|lung(2)|ovary(2)|skin(1) 6 AGAAAGACTCCAACTTCCAGA 0.542000 41 116 0 0 1 0 0 ALPK2 115701 broad.mit.edu 37 18 56203430 56203430 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr18:56203430G>A ENST00000361673.3 - 5 4202 c.3989C>T c.(3988-3990)tCc>tTc p.S1330F RP11-1151B14.4_ENST00000591360.1_RNA NM_052947.3 NP_443179.3 Q86TB3 ALPK2_HUMAN alpha-kinase 2 1330 ATP binding|protein serine/threonine kinase activity NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2) 84 GAAACCCCGGGAAGAAAGACT 0.512000 9 107 0 0 1 0 0 SSPO 23145 broad.mit.edu 37 7 149502585 149502585 + RNA SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:149502585C>T ENST00000378016.2 + 0 8398 A2VEC9 SSPO_HUMAN SCO-spondin cell adhesion extracellular space peptidase inhibitor activity Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) CTGGCGCAGTCGTTCCCGACT 0.672000 5 93 0 0 1 0 0 ALPK2 115701 broad.mit.edu 37 18 56202812 56202812 + Missense_Mutation SNP G G A rs149547104 TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr18:56202812G>A ENST00000361673.3 - 5 4820 c.4607C>T c.(4606-4608)tCc>tTc p.S1536F RP11-1151B14.4_ENST00000591360.1_RNA NM_052947.3 NP_443179.3 Q86TB3 ALPK2_HUMAN alpha-kinase 2 1536 ATP binding|protein serine/threonine kinase activity NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2) 84 TGAAGTGGGGGAAATCAATTC 0.463000 37 71 0 0 1 0 0 ALPK1 80216 broad.mit.edu 37 4 113352749 113352749 + Silent SNP T T A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:113352749T>A ENST00000458497.1 + 11 2325 c.2046T>A c.(2044-2046)atT>atA p.I682I ALPK1_ENST00000177648.9_Silent_p.I682I|ALPK1_ENST00000504176.2_Silent_p.I604I NM_001102406.1|NM_025144.3 NP_001095876.1|NP_079420.3 Q96QP1 ALPK1_HUMAN alpha-kinase 1 682 ATP binding|protein serine/threonine kinase activity NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1) 53 Ovarian(17;0.0446)|Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.00325) CCCCAGGCATTTTCTTGGCCC 0.502000 34 71 0 0 1 0 0 SPEF2 79925 broad.mit.edu 37 5 35807308 35807308 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:35807308C>T ENST00000440995.2 + 36 5317 c.5317C>T c.(5317-5319)Cct>Tct p.P1773S SPEF2_ENST00000356031.3_Missense_Mutation_p.P1778S|SPEF2_ENST00000303129.4_Missense_Mutation_p.P575S|CTD-2113L7.1_ENST00000510433.1_RNA Q9C093 SPEF2_HUMAN sperm flagellar 2 1778 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 37 all_lung(31;7.56e-05) Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) CTTGAAGCATCCTTTTATTCA 0.388000 78 240 0 0 1 0 0 VRK2 7444 broad.mit.edu 37 2 58373519 58373519 + Silent SNP C C A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:58373519C>A ENST00000435505.2 + 15 1837 c.1092C>A c.(1090-1092)gtC>gtA p.V364V VRK2_ENST00000417641.2_Silent_p.V364V|VRK2_ENST00000440705.2_Silent_p.V341V|VRK2_ENST00000340157.4_Silent_p.V364V|VRK2_ENST00000412104.2_Silent_p.V364V Q86Y07 VRK2_HUMAN vaccinia related kinase 2 364 integral to membrane ATP binding|protein binding|protein serine/threonine kinase activity endometrium(4)|kidney(2)|large_intestine(5)|lung(12)|ovary(1) 24 AAAAAAAAGTCCACAGTGAGA 0.403000 5 85 0.0215528 0.0215711 1 1 0 LPPR1 54886 broad.mit.edu 37 9 104086328 104086328 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:104086328G>A ENST00000374874.3 + 8 1406 c.967G>A c.(967-969)Gaa>Aaa p.E323K LPPR1_ENST00000395056.2_Missense_Mutation_p.E323K NM_207299.1 NP_997182.1 Q8TBJ4 LPPR1_HUMAN 323 integral to membrane catalytic activity GTCCATGACCGAAGTTACCTG 0.418000 13 47 0 0 1 0 0 PFN4 375189 broad.mit.edu 37 2 24344073 24344073 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:24344073C>T ENST00000313213.4 - 3 586 c.215G>A c.(214-216)aGa>aAa p.R72K PFN4_ENST00000465360.1_5'UTR NM_199346.1 NP_955378.1 Q8NHR9 PROF4_HUMAN profilin family, member 4 72 actin cytoskeleton organization actin cytoskeleton|cytoplasm actin binding breast(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|pancreas(1) 6 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CCGGACACATCTGTAATCTTT 0.428000 47 154 0 0 1 0 0 CRIM1 51232 broad.mit.edu 37 2 36704143 36704143 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:36704143C>T ENST00000280527.2 + 6 1470 c.1103C>T c.(1102-1104)aCc>aTc p.T368I NM_016441.2 NP_057525.1 Q9NZV1 CRIM1_HUMAN cysteine rich transmembrane BMP regulator 1 (chordin-like) 368 VWFC 1. nervous system development|regulation of cell growth extracellular region|integral to membrane|plasma membrane insulin-like growth factor binding|insulin-like growth factor receptor activity|serine-type endopeptidase inhibitor activity autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(15)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 45 all_hematologic(82;0.131)|Acute lymphoblastic leukemia(82;0.154) ATCTGCTTCACCGCCCAGTGT 0.488000 17 94 0 0 1 0 0 NT5C1B 93034 broad.mit.edu 37 2 18765453 18765453 + Silent SNP C C T rs151116969 TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:18765453C>T ENST00000304081.4 - 5 892 c.792G>A c.(790-792)agG>agA p.R264R NT5C1B_ENST00000600945.1_Silent_p.R324R|NT5C1B-RDH14_ENST00000532967.1_Silent_p.R324R|NT5C1B_ENST00000359846.2_Silent_p.R324R NM_033253.3 NP_150278.2 5'-nucleotidase, cytosolic IB p.R324R(1) endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1) 29 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177) Ovarian(717;0.208) CGTAGATTTTCCTGCCGTCCA 0.562000 109 164 0 0 1 0 0 SLC35F4 341880 broad.mit.edu 37 14 58063512 58063512 + Nonsense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr14:58063512C>T ENST00000339762.6 - 1 103 c.104G>A c.(103-105)tGg>tAg p.W35* SLC35F4_ENST00000557430.1_Intron|SLC35F4_ENST00000554729.1_Intron|SLC35F4_ENST00000556826.1_Intron solute carrier family 35, member F4 breast(1)|endometrium(4)|large_intestine(3)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 TCCTGGCTTCCATACCTCCTG 0.443000 4 56 0 0 1 0 0 MCTP2 55784 broad.mit.edu 37 15 95001444 95001444 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr15:95001444G>A ENST00000357742.4 + 19 2329 c.2329G>A c.(2329-2331)Gaa>Aaa p.E777K MCTP2_ENST00000451018.3_Missense_Mutation_p.E722K NM_018349.3 NP_060819.3 Q6DN12 MCTP2_HUMAN multiple C2 domains, transmembrane 2 777 calcium-mediated signaling integral to membrane|membrane fraction calcium ion binding p.E777K(1) autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2) 49 Lung NSC(78;0.0821)|all_lung(78;0.148) BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593) CGTCTTGGAGGAAATAGCTTC 0.373000 17 47 0 0 1 0 0 LPPR1 54886 broad.mit.edu 37 9 104079647 104079647 + Splice_Site SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:104079647G>A ENST00000374874.3 + 7 1253 c.813_splice c.e7-1 p.G272_splice LPPR1_ENST00000395056.2_Splice_Site_p.G272_splice NM_207299.1 NP_997182.1 Q8TBJ4 LPPR1_HUMAN 272 integral to membrane catalytic activity CATCCTGCAGGGAATGTGTGT 0.517000 58 156 0 0 1 0 0 PMP2 5375 broad.mit.edu 37 8 82357216 82357216 + Silent SNP A A G TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:82357216A>G ENST00000256103.2 - 2 218 c.82T>C c.(82-84)Tta>Cta p.L28L PMP2_ENST00000519260.1_Intron|RP11-157I4.4_ENST00000524085.2_RNA NM_002677.3 NP_002668.1 P02689 MYP2_HUMAN peripheral myelin protein 2 28 cytoplasm cholesterol binding|fatty acid binding|transporter activity endometrium(1)|kidney(1)|large_intestine(1)|lung(3) 6 Epithelial(68;0.186) CTGGTGGCTAACCCCACACCT 0.423000 25 44 0 0 1 0 0 PNMAL2 57469 broad.mit.edu 37 19 46998487 46998487 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:46998487G>A ENST00000599531.1 - 1 1268 c.236C>T c.(235-237)cCc>cTc p.P79L PNMAL2_ENST00000594749.1_Intron|PNMAL2_ENST00000377655.2_Missense_Mutation_p.P79L|AC011484.1_ENST00000377652.3_Missense_Mutation_p.G200R NM_020709.1 NP_065760.1 Q9ULN7 PNML2_HUMAN paraneoplastic Ma antigen family-like 2 79 central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(4) 8 Ovarian(192;0.00965)|all_neural(266;0.0459) OV - Ovarian serous cystadenocarcinoma(262;0.000322)|all cancers(93;0.00233)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427) gatctccctgggaatggcagc 0.607000 104 183 0 0 1 0 0 HIPK4 147746 broad.mit.edu 37 19 40889924 40889924 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:40889924C>T ENST00000291823.2 - 2 872 c.588G>A c.(586-588)gtG>gtA p.V196V NM_144685.3 NP_653286.2 Q8NE63 HIPK4_HUMAN homeodomain interacting protein kinase 4 196 Protein kinase. cytoplasm ATP binding|protein serine/threonine kinase activity breast(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 20 Lung(22;4.95e-05)|LUSC - Lung squamous cell carcinoma(20;0.000292) ACCACACGTCCACCTTCTCGC 0.622000 6 95 0 0 1 0 0 FAM24B 196792 broad.mit.edu 37 10 124609981 124609981 + Silent SNP A A T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:124609981A>T ENST00000368898.3 - 3 341 c.51T>A c.(49-51)gtT>gtA p.V17V CUZD1_ENST00000368904.1_5'UTR|FAM24B_ENST00000368896.1_Silent_p.V17V|CUZD1_ENST00000545804.1_Intron|FAM24B_ENST00000462859.1_Intron NM_152644.2 NP_689857.2 Q8N5W8 FA24B_HUMAN family with sequence similarity 24, member B 17 extracellular region endometrium(1)|kidney(1)|large_intestine(1)|lung(1) 4 all_neural(114;0.0765)|Lung NSC(174;0.163)|all_lung(145;0.205) Colorectal(40;0.136)|COAD - Colon adenocarcinoma(40;0.141) AGAGCACGACAACTATCAGCA 0.453000 35 89 0 0 1 0 0 TP63 8626 broad.mit.edu 37 3 189526100 189526100 + Nonsense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:189526100C>T ENST00000264731.3 + 4 453 c.364C>T c.(364-366)Cag>Tag p.Q122* TP63_ENST00000392460.3_Nonsense_Mutation_p.Q122*|TP63_ENST00000418709.2_Nonsense_Mutation_p.Q122*|TP63_ENST00000449992.1_Intron|TP63_ENST00000437221.1_Nonsense_Mutation_p.Q28*|TP63_ENST00000456148.1_Nonsense_Mutation_p.Q28*|TP63_ENST00000392463.2_Nonsense_Mutation_p.Q28*|TP63_ENST00000382063.4_Intron|TP63_ENST00000320472.5_Nonsense_Mutation_p.Q122*|TP63_ENST00000440651.2_Nonsense_Mutation_p.Q122*|TP63_ENST00000392461.3_Nonsense_Mutation_p.Q28*|TP63_ENST00000354600.5_Nonsense_Mutation_p.Q28* NM_001114978.1|NM_003722.4 NP_001108450.1|NP_003713.3 Q9H3D4 P63_HUMAN tumor protein p63 122 anti-apoptosis|cellular response to UV|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6) 61 all_cancers(143;3.35e-10)|Ovarian(172;0.0925) Lung(62;3.33e-05) GBM - Glioblastoma multiforme(93;0.0227) CAGCATGGACCAGCAGATTCA 0.587000 HNSCC(45;0.13) 33 126 0 0 1 0 0 PLXNA4 91584 broad.mit.edu 37 7 131849022 131849022 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:131849022G>A ENST00000359827.3 - 24 5341 c.4379C>T c.(4378-4380)tCc>tTc p.S1460F PLXNA4_ENST00000321063.4_Missense_Mutation_p.S1460F Q9HCM2 PLXA4_HUMAN plexin A4 1460 integral to membrane|intracellular|plasma membrane NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1) 45 ACAGAACAGGGAGAAGAGGGG 0.592000 17 100 0 0 1 0 0 MUC3A 4584 broad.mit.edu 37 7 100551777 100551777 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:100551777C>T ENST00000319509.7 + 1 528 c.528C>T c.(526-528)atC>atT p.I176I mucin 3A, cell surface associated breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3) 44 TGAGCACGATCGTGTCAACAT 0.473000 148 797 0 0 1 0 0 GPM6A 2823 broad.mit.edu 37 4 176561923 176561923 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:176561923C>T ENST00000280187.7 - 6 644 c.599G>A c.(598-600)aGg>aAg p.R200K GPM6A_ENST00000506894.1_Missense_Mutation_p.R189K|GPM6A_ENST00000393658.2_Missense_Mutation_p.R200K|GPM6A_ENST00000515090.1_Missense_Mutation_p.R193K|GPM6A_ENST00000506219.1_5'UTR NM_005277.4 NP_005268.1 P51674 GPM6A_HUMAN glycoprotein M6A 200 cell surface|integral to membrane NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 33 Breast(14;7.35e-05)|Melanoma(52;0.00909)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;9.21e-19)|Epithelial(43;3.01e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.02e-09)|STAD - Stomach adenocarcinoma(60;0.00083)|GBM - Glioblastoma multiforme(59;0.00168)|LUSC - Lung squamous cell carcinoma(193;0.0388) TTCGCACATCCTCAAGAAATT 0.303000 11 49 0 0 1 0 0 S1PR3 1903 broad.mit.edu 37 9 91617231 91617231 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:91617231G>A ENST00000375846.3 + 1 5811 c.1116G>A c.(1114-1116)caG>caA p.Q372Q S1PR3_ENST00000358157.2_Silent_p.Q372Q Q99500 S1PR3_HUMAN sphingosine-1-phosphate receptor 3 372 anatomical structure morphogenesis|elevation of cytosolic calcium ion concentration|inflammatory response|positive regulation of cell proliferation integral to plasma membrane lipid binding|lysosphingolipid and lysophosphatidic acid receptor activity NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|skin(1) 34 CAGCACTTCAGAATGGGATCT 0.557000 20 46 0 0 1 0 0 KIAA1244 57221 broad.mit.edu 37 6 138655271 138655271 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:138655271C>T ENST00000251691.4 + 33 5454 c.5288C>T c.(5287-5289)tCt>tTt p.S1763F NM_020340.4 NP_065073.3 Q5TH69 BIG3_HUMAN KIAA1244 1763 regulation of ARF protein signal transduction cytoplasm|integral to membrane ARF guanyl-nucleotide exchange factor activity NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2) 44 Breast(32;0.135) OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259) AGATACATCTCTATGCAGAAC 0.512000 31 18 0 0 1 0 0 MIPEP 4285 broad.mit.edu 37 13 24443553 24443553 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr13:24443553G>A ENST00000382172.3 - 7 919 c.821C>T c.(820-822)cCc>cTc p.P274L NM_005932.3 NP_005923.2 Q99797 MIPEP_HUMAN mitochondrial intermediate peptidase 274 protein processing involved in protein targeting to mitochondrion|proteolysis mitochondrial matrix metal ion binding|metalloendopeptidase activity breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|liver(1)|lung(12)|prostate(2)|skin(1) 27 all_cancers(29;1.83e-22)|all_epithelial(30;8.75e-19)|all_lung(29;9.17e-18)|Lung SC(185;0.0225)|Breast(139;0.14) all cancers(112;0.00389)|Epithelial(112;0.0266)|OV - Ovarian serous cystadenocarcinoma(117;0.0717)|Lung(94;0.207)|GBM - Glioblastoma multiforme(144;0.232) ACCAGCATTGGGATAAAGAAA 0.393000 28 63 0 0 1 0 0 LBX2 85474 broad.mit.edu 37 2 74725130 74725130 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:74725130G>A ENST00000460508.3 - 2 965 c.509C>T c.(508-510)cCc>cTc p.P170L LBX2_ENST00000341396.2_3'UTR|LBX2_ENST00000550249.1_5'UTR|LBX2_ENST00000377566.4_Missense_Mutation_p.P174L NM_001009812.1 NP_001009812.1 Q6XYB7 LBX2_HUMAN ladybird homeobox 2 174 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(1) 4 GCAGAGGCCGGGATCTGGAGC 0.667000 45 64 0 0 1 0 0 SLC39A12 221074 broad.mit.edu 37 10 18254443 18254443 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:18254443C>T ENST00000377369.2 + 4 848 c.575C>T c.(574-576)tCt>tTt p.S192F SLC39A12_ENST00000377371.3_Missense_Mutation_p.S192F|SLC39A12_ENST00000377374.4_Missense_Mutation_p.S192F|SLC39A12_ENST00000539911.1_Missense_Mutation_p.S58F NM_001145195.1 NP_001138667.1 Q504Y0 S39AC_HUMAN solute carrier family 39 (zinc transporter), member 12 192 zinc ion transport integral to membrane metal ion transmembrane transporter activity NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 60 CAGAAAAAATCTGGAATAGTG 0.388000 43 71 0 0 1 0 0 FRG2B 441581 broad.mit.edu 37 10 135440184 135440184 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:135440184C>T ENST00000443774.1 - 1 112 c.63G>A c.(61-63)caG>caA p.Q21Q FRG2B_ENST00000425520.1_Silent_p.Q21Q Q96QU4 FRG2B_HUMAN FSHD region gene 2 family, member B 21 nucleus endometrium(2)|kidney(2)|lung(14)|ovary(1)|prostate(1) 20 all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175) OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06) GGAAAGGGGGCTGGTCAGTGG 0.507000 10 289 0 0 1 0 0 PCLO 27445 broad.mit.edu 37 7 82579376 82579376 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:82579376G>A ENST00000423517.2 - 6 10865 c.10528C>T c.(10528-10530)Ctt>Ttt p.L3510F PCLO_ENST00000333891.8_Missense_Mutation_p.L3510F|PCLO_ENST00000437081.1_Missense_Mutation_p.L230F NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 3441 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 ACTTTGGAAAGGGGTTTGGTC 0.478000 25 96 0 0 1 0 0 ZNF560 147741 broad.mit.edu 37 19 9583865 9583865 + Silent SNP T T A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:9583865T>A ENST00000301480.4 - 5 441 c.228A>T c.(226-228)ggA>ggT p.G76G NM_152476.2 NP_689689.2 Q96MR9 ZN560_HUMAN zinc finger protein 560 76 KRAB 1. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4) 65 CTTGGAGAACTCCTTGCTGCA 0.388000 8 291 0 0 1 0 0 ZNF528 84436 broad.mit.edu 37 19 52905273 52905273 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:52905273C>T ENST00000360465.3 + 4 433 c.7C>T c.(7-9)Ctt>Ttt p.L3F ZNF528_ENST00000594530.1_Missense_Mutation_p.L3F|ZNF528_ENST00000598192.1_Missense_Mutation_p.L3F|ZNF528_ENST00000391788.2_5'UTR NM_032423.2 NP_115799.2 Q3MIS6 ZN528_HUMAN zinc finger protein 528 3 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(6)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 39 GBM - Glioblastoma multiforme(134;0.00249)|OV - Ovarian serous cystadenocarcinoma(262;0.00817) AGGAATGGCCCTTACTCAGGT 0.413000 32 49 0 0 1 0 0 OR9K2 441639 broad.mit.edu 37 12 55524500 55524500 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:55524500G>A ENST00000305377.5 + 1 1036 c.948G>A c.(946-948)agG>agA p.R316R NM_001005243.1 NP_001005243.1 Q8NGE7 OR9K2_HUMAN olfactory receptor, family 9, subfamily K, member 2 316 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|breast(3)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(2) 31 ACTCTCTGAGGAACAAAGATG 0.343000 42 113 0 0 1 0 0 OBSCN 84033 broad.mit.edu 37 1 228557773 228557773 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:228557773G>A ENST00000570156.2 + 102 23043 c.22969G>A c.(22969-22971)Gct>Act p.A7657T OBSCN_ENST00000366707.4_Missense_Mutation_p.A4334T|OBSCN_ENST00000422127.1_Missense_Mutation_p.A6700T NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 6700 apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) CTTCATCAAGGCTACGCTGCA 0.677000 55 68 0 0 1 0 0 SPAG16 79582 broad.mit.edu 37 2 214204927 214204927 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:214204927G>A ENST00000413312.1 + 5 730 c.484G>A c.(484-486)Gat>Aat p.D162N SPAG16_ENST00000447990.1_Missense_Mutation_p.D193N|SPAG16_ENST00000331683.5_Missense_Mutation_p.D193N|SPAG16_ENST00000374309.3_Missense_Mutation_p.D99N|SPAG16_ENST00000272898.7_Missense_Mutation_p.D193N|SPAG16_ENST00000414961.2_3'UTR Q8N0X2 SPG16_HUMAN sperm associated antigen 16 193 cilium assembly cilium axoneme|flagellar axoneme endometrium(4)|kidney(1)|large_intestine(15)|lung(27)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 56 Renal(323;0.00461) UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599) GAAAGAACGTGATTTTCATCG 0.284000 8 49 0 0 1 0 0 CLOCK 9575 broad.mit.edu 37 4 56325062 56325062 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:56325062G>A ENST00000309964.4 - 10 1039 c.789C>T c.(787-789)atC>atT p.I263I CLOCK_ENST00000381322.1_Silent_p.I263I|CLOCK_ENST00000513440.1_Silent_p.I263I NM_004898.3 NP_004889.1 O15516 CLOCK_HUMAN clock circadian regulator 263 PAS 2. circadian rhythm|photoperiodism|positive regulation of transcription from RNA polymerase II promoter cytoplasm|transcription factor complex DNA binding|histone acetyltransferase activity|sequence-specific DNA binding transcription factor activity|signal transducer activity breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(8)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 38 Lung NSC(11;0.00335)|Glioma(25;0.08)|all_epithelial(27;0.0992)|all_neural(26;0.101) LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0107) AACATACCTTGATGAACTGAG 0.398000 5 31 0 0 1 0 0 SLC8B1 80024 broad.mit.edu 37 12 113759031 113759031 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:113759031G>A ENST00000552014.1 - 4 794 c.279C>T c.(277-279)ccC>ccT p.P93P SLC24A6_ENST00000546737.1_Silent_p.P93P|SLC24A6_ENST00000202831.3_Silent_p.P93P|SLC24A6_ENST00000553238.1_5'UTR Q6J4K2 NCKX6_HUMAN 93 response to stimulus|sodium ion transport integral to membrane|plasma membrane calcium:cation antiporter activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(3)|skin(1) 16 GGAGGAGGCTGGGAGGGAAGT 0.617000 60 126 0 0 1 0 0 TEKT3 64518 broad.mit.edu 37 17 15234443 15234443 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:15234443C>T ENST00000395930.1 - 3 646 c.460G>A c.(460-462)Ggg>Agg p.G154R TEKT3_ENST00000338696.2_Missense_Mutation_p.G154R NM_031898.2 NP_114104.1 Q9BXF9 TEKT3_HUMAN tektin 3 154 microtubule cytoskeleton organization cilium axoneme|flagellar axoneme|microtubule endometrium(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1) 23 UCEC - Uterine corpus endometrioid carcinoma (92;0.0877) TTCCAAAACCCTATGTCATTG 0.403000 31 81 0 0 1 0 0 FMO3 2328 broad.mit.edu 37 1 171073066 171073066 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:171073066C>T ENST00000367755.4 + 3 384 c.273C>T c.(271-273)atC>atT p.I91I FMO3_ENST00000392085.2_Silent_p.I91I|FMO3_ENST00000542847.1_Silent_p.I71I|FMO3_ENST00000538429.1_Intron NM_001002294.2 NP_001002294.1 P31513 FMO3_HUMAN flavin containing monooxygenase 3 91 xenobiotic metabolic process integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome flavin adenine dinucleotide binding|flavin-containing monooxygenase activity endometrium(1)|kidney(1)|large_intestine(12)|lung(12)|skin(1)|stomach(2)|urinary_tract(2) 31 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) AGGAATATATCATTGCATTTG 0.378000 31 89 0 0 1 0 0 ULK1 8408 broad.mit.edu 37 12 132393334 132393334 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:132393334C>T ENST00000321867.4 + 6 813 c.462C>T c.(460-462)gcC>gcT p.A154A NM_003565.2 NP_003556.1 O75385 ULK1_HUMAN unc-51 like autophagy activating kinase 1 154 Protein kinase. autophagy|protein localization|regulation of autophagy autophagic vacuole|cytosol|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex ATP binding|protein complex binding|protein serine/threonine kinase activity breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2) 29 all_neural(191;0.0982)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;2.07e-08)|Epithelial(86;2.56e-07)|all cancers(50;3.01e-07) GCCGCCGCGCCAACCCCAACA 0.716000 20 54 0 0 1 0 0 SLFN11 91607 broad.mit.edu 37 17 33689777 33689777 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:33689777C>T ENST00000394566.1 - 4 1322 c.1050G>A c.(1048-1050)atG>atA p.M350I SLFN11_ENST00000308377.4_Missense_Mutation_p.M350I NM_001104587.1|NM_001104588.1|NM_001104589.1|NM_001104590.1 NP_001098057.1|NP_001098058.1|NP_001098059.1|NP_001098060.1 Q7Z7L1 SLN11_HUMAN schlafen family member 11 350 nucleus ATP binding autonomic_ganglia(1)|breast(1)|kidney(3)|large_intestine(14)|lung(17)|ovary(1)|prostate(4)|skin(2)|stomach(5)|upper_aerodigestive_tract(2) 50 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) TGTCTGTCATCATGCCTACCC 0.483000 30 47 0 0 1 0 0 MAN1A2 10905 broad.mit.edu 37 1 118042090 118042090 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:118042090C>T ENST00000356554.3 + 11 2326 c.1591C>T c.(1591-1593)Cgt>Tgt p.R531C NM_006699.3 NP_006690.1 O60476 MA1A2_HUMAN mannosidase, alpha, class 1A, member 2 531 N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane|membrane fraction calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity p.R531S(1) breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|urinary_tract(1) 27 Lung SC(450;0.225) all_cancers(81;7.9e-06)|all_epithelial(167;7.39e-07)|all_lung(203;2.84e-06)|Lung NSC(69;1.99e-05) Lung(183;0.0688)|Kidney(133;0.114)|LUSC - Lung squamous cell carcinoma(189;0.223)|KIRC - Kidney renal clear cell carcinoma(1967;0.237)|Colorectal(144;0.243) TTATATCCTCCGTCCAGAAGT 0.463000 22 40 0 0 1 0 0 ALDH1L1 10840 broad.mit.edu 37 3 125879800 125879800 + Missense_Mutation SNP T T A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:125879800T>A ENST00000393434.2 - 2 372 c.23A>T c.(22-24)cAg>cTg p.Q8L ALDH1L1_ENST00000472186.1_Missense_Mutation_p.Q8L|ALDH1L1_ENST00000452905.2_Missense_Mutation_p.Q8L|ALDH1L1_ENST00000455064.2_5'UTR|ALDH1L1_ENST00000273450.3_Missense_Mutation_p.Q18L|ALDH1L1_ENST00000393431.2_Missense_Mutation_p.Q8L NM_012190.3 NP_036322.2 O75891 AL1L1_HUMAN aldehyde dehydrogenase 1 family, member L1 8 GART. 10-formyltetrahydrofolate catabolic process|biosynthetic process acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 52 GBM - Glioblastoma multiforme(114;0.0462) Tetrahydrofolic acid(DB00116) AAACAGGCTCTGTCCAATCAC 0.537000 40 82 0 0 1 0 0 BRCA2 675 broad.mit.edu 37 13 32944687 32944687 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr13:32944687C>T ENST00000544455.1 + 19 8707 c.8480C>T c.(8479-8481)cCt>cTt p.P2827L BRCA2_ENST00000380152.3_Missense_Mutation_p.P2827L NM_000059.3 NP_000050.2 P51587 BRCA2_HUMAN breast cancer 2, early onset 2827 cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 183 Lung SC(185;0.0262) all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704) AGAGCATACCCTATACAGGTA 0.363000 """D, Mis, N, F, S""" """breast, ovarian, pancreatic""" """breast, ovarian, pancreatic, leukemia (FANCB, FANCD1)""" Homologous recombination Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia TCGA Ovarian(8;0.087) 5 86 0 0 1 0 0 ULK4 54986 broad.mit.edu 37 3 41291002 41291002 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:41291002C>T ENST00000301831.4 - 36 4204 c.3742G>A c.(3742-3744)Gag>Aag p.E1248K CTNNB1_ENST00000471014.1_Intron|ULK4_ENST00000489118.1_5'UTR NM_017886.2 NP_060356.2 Q96C45 ULK4_HUMAN unc-51 like kinase 4 1248 ATP binding|protein serine/threonine kinase activity p.E400Q(1)|p.E1248Q(1) breast(2)|cervix(1)|large_intestine(6)|lung(7)|prostate(5)|skin(1) 22 KIRC - Kidney renal clear cell carcinoma(284;0.214) GCCAGCCGCTCCAGAGCCCGC 0.587000 14 33 0 0 1 0 0 FAM83B 222584 broad.mit.edu 37 6 54805881 54805881 + Silent SNP G G T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:54805881G>T ENST00000306858.7 + 5 2228 c.2112G>T c.(2110-2112)ctG>ctT p.L704L NM_001010872.1 NP_001010872.1 Q5T0W9 FA83B_HUMAN family with sequence similarity 83, member B 704 autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1) 71 Lung NSC(77;0.0178)|Renal(3;0.122) AAGATTTGCTGAAAAGTTCTA 0.398000 11 157 4.36969e-10 4.39582e-10 1 1 0 PSG5 5673 broad.mit.edu 37 19 43679376 43679376 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:43679376C>T ENST00000404580.1 - 4 1043 c.955G>A c.(955-957)Gaa>Aaa p.E319K PSG5_ENST00000407568.1_Intron|PSG5_ENST00000366175.3_Missense_Mutation_p.E319K|PSG5_ENST00000407356.1_Missense_Mutation_p.E319K|PSG5_ENST00000342951.6_Missense_Mutation_p.E319K|PSG5_ENST00000599812.1_Missense_Mutation_p.E412K Q15238 PSG5_HUMAN pregnancy specific beta-1-glycoprotein 5 319 female pregnancy extracellular region p.E319K(1) breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(18)|prostate(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 Prostate(69;0.00899) CCAGAGACTTCGACTGTCATG 0.453000 104 251 0 0 1 0 0 CECR2 27443 broad.mit.edu 37 22 18016902 18016902 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr22:18016902G>A ENST00000262608.8 + 9 1156 c.1156G>A c.(1156-1158)Gaa>Aaa p.E386K CECR2_ENST00000400573.4_Missense_Mutation_p.E385K|CECR2_ENST00000342247.5_Missense_Mutation_p.E357K|CECR2_ENST00000400585.2_Missense_Mutation_p.E244K NM_031413.3 NP_113601.2 Q9BXF3 CECR2_HUMAN cat eye syndrome chromosome region, candidate 2 427 chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport protein binding NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1) 59 all_epithelial(15;0.139) Lung(27;0.146) CATGAGAGAGGAAAAAAAGAC 0.483000 26 113 0 0 1 0 0 PRRC2B 84726 broad.mit.edu 37 9 134351590 134351590 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:134351590C>T ENST00000357304.4 + 15 4129 c.4074C>T c.(4072-4074)tcC>tcT p.S1358S PRRC2B_ENST00000458550.1_Intron|PRRC2B_ENST00000372249.1_5'UTR|PRRC2B_ENST00000405995.1_Intron NM_013318.3 NP_037450.2 Q5JSZ5 PRC2B_HUMAN proline-rich coiled-coil 2B 1358 protein binding cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2) 44 GCCGCAGGTCCCCTGAGCTCT 0.662000 OREG0019561 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 14 23 0 0 1 0 0 OR4A16 81327 broad.mit.edu 37 11 55111458 55111458 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:55111458C>T ENST00000314721.2 + 1 832 c.782C>T c.(781-783)tCc>tTc p.S261F NM_001005274.1 NP_001005274.1 Q8NH70 O4A16_HUMAN olfactory receptor, family 4, subfamily A, member 16 261 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 51 AGACCCGTTTCCAACTTTCCC 0.378000 20 63 0 0 1 0 0 LRFN2 57497 broad.mit.edu 37 6 40359725 40359725 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:40359725C>T ENST00000338305.6 - 3 2869 c.2327G>A c.(2326-2328)gGg>gAg p.G776E NM_020737.1 NP_065788.1 Q9ULH4 LRFN2_HUMAN leucine rich repeat and fibronectin type III domain containing 2 776 cell junction|integral to membrane|postsynaptic membrane breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 58 Ovarian(28;0.0418)|Colorectal(47;0.196) GCCAAAAGTCCCCCGGGCCCC 0.607000 36 119 0 0 1 0 0 OR2C1 4993 broad.mit.edu 37 16 3406471 3406471 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr16:3406471C>T ENST00000304936.2 + 1 583 c.531C>T c.(529-531)ttC>ttT p.F177F NM_012368.2 NP_036500.2 O95371 OR2C1_HUMAN olfactory receptor, family 2, subfamily C, member 1 177 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity kidney(1)|large_intestine(2)|liver(1)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 12 TGGAGGGATTCCTCTGCGAGG 0.577000 37 104 0 0 1 0 0 DAB1 1600 broad.mit.edu 37 1 57476380 57476380 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:57476380C>T ENST00000371236.2 - 14 1919 c.1656G>A c.(1654-1656)caG>caA p.Q552Q DAB1_ENST00000414851.2_Silent_p.Q534Q|DAB1_ENST00000420954.2_Silent_p.Q550Q|DAB1_ENST00000485760.1_5'UTR|DAB1_ENST00000371234.4_Silent_p.Q552Q|DAB1_ENST00000439789.2_Silent_p.Q466Q|DAB1_ENST00000371231.1_Silent_p.Q585Q O75553 DAB1_HUMAN Dab, reelin signal transducer, homolog 1 (Drosophila) 585 cell differentiation|nervous system development central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5) 64 AGCTACCGGCCTGTGGACTTA 0.478000 47 86 0 0 1 0 0 TFAP2B 7021 broad.mit.edu 37 6 50791271 50791271 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:50791271C>T ENST00000263046.4 + 3 426 c.260C>T c.(259-261)cCc>cTc p.P87L TFAP2B_ENST00000489228.1_3'UTR|TFAP2B_ENST00000393655.3_Missense_Mutation_p.P78L Q92481 AP2B_HUMAN transcription factor AP-2 beta (activating enhancer binding protein 2 beta) 78 Gln/Pro-rich (transactivation domain). nervous system development|positive regulation of transcription from RNA polymerase II promoter protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity p.P78H(1) NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1) 40 Lung NSC(77;0.156) CAGCCGCTCCCCTACCACCAG 0.687000 37 94 0 0 1 0 0 MACF1 23499 broad.mit.edu 37 1 39917833 39917833 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:39917833C>T ENST00000564288.1 + 86 21201 c.20424C>T c.(20422-20424)ttC>ttT p.F6808F MACF1_ENST00000539005.1_Silent_p.F4619F|MACF1_ENST00000567887.1_Silent_p.F6845F|MACF1_ENST00000545844.1_Silent_p.F4749F|MACF1_ENST00000361689.2_Silent_p.F4749F|MACF1_ENST00000372915.3_Silent_p.F6707F|MACF1_ENST00000289893.4_Silent_p.F5251F|MACF1_ENST00000317713.7_Silent_p.F4749F Q9UPN3 MACF1_HUMAN microtubule-actin crosslinking factor 1 6815 cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing Golgi apparatus|microtubule|ruffle membrane actin filament binding|ATPase activity|calcium ion binding|microtubule binding breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10) 203 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) TCTAGGTTTTCCAGAAGGAAC 0.418000 27 358 0 0 1 0 0 ADAMTS20 80070 broad.mit.edu 37 12 43826148 43826148 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:43826148C>T ENST00000389420.3 - 21 3054 c.3055G>A c.(3055-3057)Gaa>Aaa p.E1019K ADAMTS20_ENST00000395541.2_Missense_Mutation_p.E173K|ADAMTS20_ENST00000553158.1_Missense_Mutation_p.E1019K NM_025003.3 NP_079279.3 P59510 ATS20_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 20 1019 TSP type-1 4. proteinaceous extracellular matrix zinc ion binding breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1) 95 all_cancers(12;2.6e-05)|Lung SC(27;0.184) Lung NSC(34;0.0569)|all_lung(34;0.129) GBM - Glioblastoma multiforme(48;0.0473) CAGGAAAATTCATTGCAATTC 0.403000 19 31 0 0 1 0 0 EIF3M 10480 broad.mit.edu 37 11 32610244 32610244 + Missense_Mutation SNP C C T rs140524517 TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:32610244C>T ENST00000531120.1 + 3 343 c.280C>T c.(280-282)Cgc>Tgc p.R94C EIF3M_ENST00000524896.1_Intron NM_006360.4 NP_006351.2 Q7L2H7 EIF3M_HUMAN eukaryotic translation initiation factor 3, subunit M 94 eukaryotic translation initiation factor 3 complex protein binding|translation initiation factor activity p.R94C(1) breast(3)|endometrium(4)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 16 Breast(20;0.109) GGTCAAATTTCGCGAAGGTGA 0.403000 73 140 0 0 1 0 0 SYPL2 284612 broad.mit.edu 37 1 110018205 110018205 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:110018205C>T ENST00000369872.3 + 3 348 c.132C>T c.(130-132)ctC>ctT p.L44L SYPL2_ENST00000475497.1_3'UTR|SYPL2_ENST00000401021.3_Silent_p.L44L NM_001040709.1 NP_001035799.1 Q5VXT5 SYPL2_HUMAN synaptophysin-like 2 44 MARVEL. integral to membrane|synaptic vesicle transporter activity breast(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 16 all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244) Colorectal(144;0.0129)|Lung(183;0.0436)|READ - Rectum adenocarcinoma(129;0.0698)|Epithelial(280;0.0808)|all cancers(265;0.0869)|LUSC - Lung squamous cell carcinoma(189;0.231) TCTCTCAGCTCTTTGCTATTT 0.552000 33 76 0 0 1 0 0 SNX24 28966 broad.mit.edu 37 5 122181349 122181349 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:122181349C>T ENST00000261369.4 + 1 206 c.21C>T c.(19-21)tcC>tcT p.S7S SNX24_ENST00000511211.1_Intron|SNX24_ENST00000513881.1_Silent_p.S7S|SNX24_ENST00000395451.4_Silent_p.S7S|SNX24_ENST00000506996.1_Silent_p.S7S NM_014035.2 NP_054754.1 Q9Y343 SNX24_HUMAN sorting nexin 24 7 PX. cell communication|protein transport cytoplasmic vesicle membrane phosphatidylinositol binding lung(5) 5 Prostate(80;0.0387) KIRC - Kidney renal clear cell carcinoma(527;0.0897)|Kidney(363;0.137) OV - Ovarian serous cystadenocarcinoma(64;0.000654)|Epithelial(69;0.0016)|all cancers(49;0.0139) ACATCCCGTCCTTTCGCTATG 0.766000 12 17 0 0 1 0 0 KRT23 25984 broad.mit.edu 37 17 39081785 39081785 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:39081785C>T ENST00000209718.3 - 7 1387 c.963G>A c.(961-963)cgG>cgA p.R321R KRT23_ENST00000436344.3_Silent_p.R184R|AC004231.2_ENST00000418393.1_RNA NM_015515.3 NP_056330.3 Q9C075 K1C23_HUMAN keratin 23 (histone deacetylase inducible) 321 Coil 2.|Rod. intermediate filament structural molecule activity central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 21 Breast(137;0.000301)|Ovarian(249;0.15) TGCAGGAGTACCGAGACTGGG 0.458000 17 41 0 0 1 0 0 ALG10B 144245 broad.mit.edu 37 12 38714488 38714488 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:38714488C>T ENST00000308742.4 + 3 1211 c.895C>T c.(895-897)Ctc>Ttc p.L299F ALG10B_ENST00000551464.1_Intron NM_001013620.3 NP_001013642.1 Q5I7T1 AG10B_HUMAN ALG10B, alpha-1,2-glucosyltransferase 299 dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine endoplasmic reticulum membrane|integral to membrane|plasma membrane dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity breast(2)|kidney(3)|large_intestine(7)|lung(8)|ovary(4)|skin(1) 25 Esophageal squamous(101;0.187) Lung NSC(34;0.204)|all_lung(34;0.235) TTCATTTACTCTCTTTTTTTC 0.348000 70 149 0 0 1 0 0 ENO2 2026 broad.mit.edu 37 12 7031521 7031521 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:7031521C>T ENST00000535366.1 + 10 1817 c.1191C>T c.(1189-1191)gcC>gcT p.A397A ENO2_ENST00000544774.1_Silent_p.A354A|ENO2_ENST00000545045.2_Silent_p.A278A|ENO2_ENST00000538763.1_Silent_p.A354A|ENO2_ENST00000541477.1_Silent_p.A397A|ENO2_ENST00000534977.1_3'UTR|ENO2_ENST00000229277.1_Silent_p.A397A P09104 ENOG_HUMAN enolase 2 (gamma, neuronal) 397 gluconeogenesis|glycolysis phosphopyruvate hydratase complex|plasma membrane magnesium ion binding|phosphopyruvate hydratase activity endometrium(3)|large_intestine(2)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 10 AGACTGGTGCCCCGTGCCGTT 0.552000 9 90 0 0 1 0 0 SNHG14 104472715 broad.mit.edu 37 15 25342843 25342843 + RNA SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr15:25342843G>A ENST00000546682.1 + 0 1229 SNHG14_ENST00000549804.2_RNA|SNHG14_ENST00000553108.1_RNA|SNORD116-25_ENST00000516517.1_RNA NR_003361.1 GATCTCATCGGAATCTGAACA 0.478000 33 79 0 0 1 0 0 GSTM5 2949 broad.mit.edu 37 1 110256323 110256323 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:110256323G>A ENST00000369813.1 + 3 1082 c.177G>A c.(175-177)ttG>ttA p.L59L GSTM5_ENST00000256593.3_Silent_p.L100L|GSTM5_ENST00000369812.5_Silent_p.L119L|GSTM5_ENST00000492718.1_3'UTR P46439 GSTM5_HUMAN glutathione S-transferase mu 5 100 GST N-terminal.|Glutathione binding (By similarity). xenobiotic metabolic process endoplasmic reticulum membrane glutathione transferase activity NS(1)|central_nervous_system(6)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2) 21 all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244) Colorectal(144;0.0131)|all cancers(265;0.0252)|Epithelial(280;0.0265)|Lung(183;0.0425)|COAD - Colon adenocarcinoma(174;0.0474)|LUSC - Lung squamous cell carcinoma(189;0.228) Glutathione(DB00143) TGGACATTTTGGAGAACCAGG 0.527000 20 40 0 0 1 0 0 LRP2 4036 broad.mit.edu 37 2 169997025 169997025 + Missense_Mutation SNP G G A rs80338754 TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:169997025G>A ENST00000263816.3 - 72 13424 c.13139C>T c.(13138-13140)cCa>cTa p.P4380L NM_004525.2 NP_004516.2 P98164 LRP2_HUMAN low density lipoprotein receptor-related protein 2 4380 EGF-like 17. hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process coated pit|integral to membrane|lysosome calcium ion binding|receptor activity|SH3 domain binding biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13) 315 STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101) Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013) GCACCTGCATGGGGGGGGCAG 0.532000 4 79 0 0 1 0 0 PRKD2 25865 broad.mit.edu 37 19 47192800 47192800 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:47192800G>A ENST00000433867.1 - 15 2442 c.1965C>T c.(1963-1965)atC>atT p.I655I PRKD2_ENST00000291281.4_Silent_p.I655I|PRKD2_ENST00000601806.1_Silent_p.I498I|PRKD2_ENST00000600194.1_Silent_p.I498I|PRKD2_ENST00000595515.1_Silent_p.I655I NM_001079880.1|NM_001079881.1|NM_016457.4 NP_001073349.1|NP_001073350.1|NP_057541.2 Q9BZL6 KPCD2_HUMAN protein kinase D2 655 Protein kinase. cell death|intracellular signal transduction|positive regulation of transcription from RNA polymerase II promoter|protein autophosphorylation|T cell receptor signaling pathway cytoplasm|membrane|nucleus ATP binding|metal ion binding|protein kinase C activity central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1) 41 Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212) OV - Ovarian serous cystadenocarcinoma(262;0.000189)|all cancers(93;0.000545)|Epithelial(262;0.0219)|GBM - Glioblastoma multiforme(486;0.0353) GCACCTGGGTGATGAGGAACT 0.612000 8 14 0 0 1 0 0 FGL2 10875 broad.mit.edu 37 7 76828970 76828970 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:76828970C>T ENST00000248598.5 - 1 173 c.141G>A c.(139-141)ggG>ggA p.G47G CCDC146_ENST00000285871.4_Intron|CCDC146_ENST00000431197.1_Intron NM_006682.2 NP_006673.1 Q14314 FGL2_HUMAN fibrinogen-like 2 47 signal transduction fibrinogen complex receptor binding breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(2) 13 CTTCGCATTTCCCTCTGCTTT 0.493000 84 239 0 0 1 0 0 IKBKB 3551 broad.mit.edu 37 8 42174385 42174385 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:42174385C>T ENST00000520810.1 + 11 1274 c.1088C>T c.(1087-1089)cCc>cTc p.P363L IKBKB_ENST00000522147.1_Intron|IKBKB_ENST00000379708.3_Missense_Mutation_p.P140L|IKBKB_ENST00000520835.1_Missense_Mutation_p.P361L|IKBKB_ENST00000416505.2_Missense_Mutation_p.P304L NM_001556.2 NP_001547.1 O14920 IKKB_HUMAN inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta 363 anti-apoptosis|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway CD40 receptor complex|cytosol|internal side of plasma membrane|membrane raft ATP binding|identical protein binding|IkappaB kinase activity p.P363R(1) breast(4)|lung(1)|ovary(2)|skin(1) 8 all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;6.21e-12)|Lung NSC(13;1.04e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211) all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954) BRCA - Breast invasive adenocarcinoma(8;1.37e-10)|Colorectal(10;0.00102)|OV - Ovarian serous cystadenocarcinoma(14;0.00168)|Lung(22;0.00467)|LUSC - Lung squamous cell carcinoma(45;0.024)|COAD - Colon adenocarcinoma(11;0.0264) Arsenic trioxide(DB01169)|Auranofin(DB00995) GCGTTGATCCCCGATAAGCCT 0.577000 20 30 0 0 1 0 0 ARHGEF35 445328 broad.mit.edu 37 7 143885443 143885443 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:143885443G>A ENST00000378115.2 - 2 163 c.34C>T c.(34-36)Cct>Tct p.P12S ARHGEF35_ENST00000543357.1_Missense_Mutation_p.P12S NM_001003702.2 NP_001003702.2 A5YM69 ARG35_HUMAN Rho guanine nucleotide exchange factor (GEF) 35 12 kidney(1)|large_intestine(1)|lung(3)|stomach(1) 6 GAGATGGGAGGAGAGGCTCCA 0.512000 53 130 0 0 1 0 0 ZNF587B 100293516 broad.mit.edu 37 19 58350474 58350474 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:58350474C>T ENST00000442832.4 + 2 354 c.120C>T c.(118-120)taC>taT p.Y40Y ZNF587B_ENST00000594901.1_Silent_p.Y40Y|ZNF587B_ENST00000316462.4_Silent_p.Y39Y|CTD-2583A14.10_ENST00000598031.1_Intron NM_001204818.1 NP_001191747.1 B4DR41 B4DR41_HUMAN zinc finger protein 587B 40 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding GATGCCTGTACCGTGATGTGA 0.488000 31 67 0 0 1 0 0 NRDE2 55051 broad.mit.edu 37 14 90754587 90754587 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr14:90754587C>T ENST00000354366.3 - 11 3364 c.3132G>A c.(3130-3132)agG>agA p.R1044R NRDE2_ENST00000357904.3_Silent_p.R813R NM_017970.3 NP_060440.2 NRDE-2, necessary for RNA interference, domain containing CCAGTCTCTTCCTCAGTTTCT 0.493000 39 85 0 0 1 0 0 TDRD1 56165 broad.mit.edu 37 10 115947765 115947765 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:115947765G>A ENST00000251864.2 + 2 328 c.175G>A c.(175-177)Gag>Aag p.E59K TDRD1_ENST00000369280.1_Missense_Mutation_p.E59K|TDRD1_ENST00000369281.2_Missense_Mutation_p.E59K|TDRD1_ENST00000422662.1_5'UTR|TDRD1_ENST00000369282.1_Missense_Mutation_p.E59K NM_198795.1 NP_942090.1 Q9BXT4 TDRD1_HUMAN tudor domain containing 1 59 DNA methylation involved in gamete generation|gene silencing by RNA|germ cell development|meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis pi-body nucleic acid binding|protein binding|zinc ion binding breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5) 48 Colorectal(252;0.172)|Breast(234;0.188) Epithelial(162;0.0343)|all cancers(201;0.0754) GAAAAGCTCAGAGAATGGAAA 0.358000 57 129 0 0 1 0 0 SIGLEC6 946 broad.mit.edu 37 19 52033958 52033958 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:52033958C>T ENST00000346477.3 - 3 751 c.683G>A c.(682-684)aGa>aAa p.R228K SIGLEC6_ENST00000425629.3_Missense_Mutation_p.R228K|SIGLEC6_ENST00000391797.3_Missense_Mutation_p.R217K|SIGLEC6_ENST00000359982.4_Missense_Mutation_p.R228K|SIGLEC6_ENST00000343300.4_Missense_Mutation_p.R228K|SIGLEC6_ENST00000436458.1_Missense_Mutation_p.R192K NM_198845.4 NP_942142.3 O43699 SIGL6_HUMAN sialic acid binding Ig-like lectin 6 228 Ig-like C2-type 1. cell adhesion|cell-cell signaling cytoplasm|extracellular region|integral to plasma membrane|membrane fraction|nucleus endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(15)|ovary(1)|stomach(1) 28 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165) CTGGATGGTTCTCTCCATGGT 0.632000 44 130 0 0 1 0 0 CAMSAP3 57662 broad.mit.edu 37 19 7682521 7682521 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:7682521G>A ENST00000446248.2 + 18 3600 c.3499G>A c.(3499-3501)Gaa>Aaa p.E1167K CAMSAP3_ENST00000160298.4_Missense_Mutation_p.E1140K NM_001080429.2 NP_001073898.1 Q9P1Y5 CAMP3_HUMAN calmodulin regulated spectrin-associated protein family, member 3 1140 CKK. epithelial cell-cell adhesion|microtubule anchoring|regulation of microtubule cytoskeleton organization|zonula adherens maintenance cytoplasm|microtubule|zonula adherens microtubule minus-end binding cervix(1)|endometrium(7)|kidney(3)|lung(6)|urinary_tract(2) 19 CAAGGTGAACGAACCGCAGAA 0.597000 25 47 0 0 1 0 0 OR6K6 128371 broad.mit.edu 37 1 158725116 158725116 + Nonsense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:158725116C>T ENST00000368144.2 + 1 607 c.511C>T c.(511-513)Cag>Tag p.Q171* NM_001005184.1 NP_001005184.1 Q8NGW6 OR6K6_HUMAN olfactory receptor, family 6, subfamily K, member 6 171 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|large_intestine(5)|lung(17)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 all_hematologic(112;0.0378) ACTTTGTATCCAGCTGACAGT 0.488000 71 94 0 0 1 0 0 KIF15 56992 broad.mit.edu 37 3 44856527 44856527 + Silent SNP C C T rs141676463 byFrequency TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:44856527C>T ENST00000326047.4 + 20 2657 c.2508C>T c.(2506-2508)tcC>tcT p.S836S KIF15_ENST00000425755.1_Silent_p.S471S NM_020242.2 NP_064627.1 Q9NS87 KIF15_HUMAN kinesin family member 15 836 blood coagulation|cell proliferation|microtubule-based movement|mitosis centrosome|cytosol|microtubule|plus-end kinesin complex|spindle ATP binding|DNA binding|microtubule motor activity breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(5) 36 BRCA - Breast invasive adenocarcinoma(193;0.0099)|KIRC - Kidney renal clear cell carcinoma(197;0.0564)|Kidney(197;0.0707) ACAAACTTTCCGAAAGACACA 0.383000 6 118 0 0 1 0 0 CPNE8 144402 broad.mit.edu 37 12 39118655 39118655 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:39118655G>A ENST00000331366.5 - 12 941 c.845C>T c.(844-846)tCt>tTt p.S282F CPNE8_ENST00000360449.3_Missense_Mutation_p.S270F NM_153634.2 NP_705898.1 Q86YQ8 CPNE8_HUMAN copine VIII 282 NS(1)|breast(1)|endometrium(1)|large_intestine(6)|lung(6)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2) 21 Esophageal squamous(101;0.187) Lung NSC(34;0.137)|Melanoma(24;0.152)|all_lung(34;0.157) TACTGTTCCAGAATTAGTATA 0.249000 17 63 0 0 1 0 0 GABRR1 2569 broad.mit.edu 37 6 89909137 89909137 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:89909137G>A ENST00000435811.1 - 3 695 c.241C>T c.(241-243)Cct>Tct p.P81S GABRR1_ENST00000454853.2_Missense_Mutation_p.P98S|GABRR1_ENST00000369451.3_Missense_Mutation_p.P11S NM_001256703.1 NP_001243632.1 P24046 GBRR1_HUMAN gamma-aminobutyric acid (GABA) A receptor, rho 1 98 gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(7)|lung(16)|pancreas(1)|prostate(1)|skin(1)|stomach(1) 35 all_cancers(76;9.49e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.46e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114) BRCA - Breast invasive adenocarcinoma(108;0.00917) Picrotoxin(DB00466) ACACCAACAGGAATGGCAGGG 0.493000 6 67 0 0 1 0 0 TGM6 343641 broad.mit.edu 37 20 2377177 2377177 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr20:2377177G>A ENST00000202625.2 + 4 511 c.450G>A c.(448-450)gaG>gaA p.E150E TGM6_ENST00000381423.1_Silent_p.E150E|TGM6_ENST00000477505.1_Intron NM_198994.2 NP_945345.2 O95932 TGM3L_HUMAN transglutaminase 6 150 cell death|peptide cross-linking acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4) 52 L-Glutamine(DB00130) TGGCCTCAGAGGAGGAGAGAC 0.617000 41 75 0 0 1 0 0 NUP210L 91181 broad.mit.edu 37 1 154112364 154112364 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:154112364C>T ENST00000368559.3 - 5 702 c.631G>A c.(631-633)Gag>Aag p.E211K NUP210L_ENST00000271854.3_Missense_Mutation_p.E211K NM_207308.2 NP_997191.2 Q5VU65 P210L_HUMAN nucleoporin 210kDa-like 211 integral to membrane NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2) 80 all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128) LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198) CCTTGTTTCTCCTCTTTTTCC 0.348000 18 569 0 0 1 0 0 TET1 80312 broad.mit.edu 37 10 70332365 70332365 + Silent SNP T T A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:70332365T>A ENST00000373644.4 + 2 479 c.270T>A c.(268-270)ctT>ctA p.L90L NM_030625.2 NP_085128.2 Q8NFU7 TET1_HUMAN tet methylcytosine dioxygenase 1 90 DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2) 21 CTGAGGTTCTTTTTCAGAACC 0.498000 42 77 0 0 1 0 0 TCF4 6925 broad.mit.edu 37 18 52937092 52937092 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr18:52937092G>A ENST00000354452.3 - 11 1503 c.892C>T c.(892-894)Cct>Tct p.P298S TCF4_ENST00000564228.1_Missense_Mutation_p.P227S|TCF4_ENST00000537856.3_Missense_Mutation_p.P168S|TCF4_ENST00000570177.2_Missense_Mutation_p.P168S|TCF4_ENST00000567880.1_Missense_Mutation_p.P238S|TCF4_ENST00000565018.2_Missense_Mutation_p.P298S|TCF4_ENST00000563760.1_5'UTR|TCF4_ENST00000564403.2_Missense_Mutation_p.P304S|TCF4_ENST00000561992.1_Missense_Mutation_p.P168S|TCF4_ENST00000537578.1_Missense_Mutation_p.P274S|TCF4_ENST00000568740.1_Missense_Mutation_p.P273S|TCF4_ENST00000540999.1_Missense_Mutation_p.P274S|TCF4_ENST00000356073.4_Missense_Mutation_p.P298S|TCF4_ENST00000568673.1_Missense_Mutation_p.P274S|TCF4_ENST00000564999.1_Missense_Mutation_p.P298S|TCF4_ENST00000457482.3_Missense_Mutation_p.P138S|TCF4_ENST00000566279.1_Missense_Mutation_p.P238S|TCF4_ENST00000543082.1_Missense_Mutation_p.P256S|TCF4_ENST00000398339.1_Missense_Mutation_p.P400S|TCF4_ENST00000566286.1_Missense_Mutation_p.P296S|TCF4_ENST00000544241.2_Missense_Mutation_p.P227S|TCF4_ENST00000561831.3_Missense_Mutation_p.P138S|TCF4_ENST00000570287.2_Missense_Mutation_p.P138S NM_001083962.1 NP_001077431.1 P15884 ITF2_HUMAN transcription factor 4 298 positive regulation of neuron differentiation|protein-DNA complex assembly|transcription initiation from RNA polymerase II promoter transcription factor complex E-box binding|protein C-terminus binding|protein heterodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding RNA polymerase recruiting transcription factor activity|TFIIB-class binding transcription factor activity|TFIIB-class transcription factor binding breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1) 41 Colorectal(16;0.00108)|READ - Rectum adenocarcinoma(59;0.0649)|COAD - Colon adenocarcinoma(17;0.0718) TTGGCAGGAGGCGTACAGGAA 0.458000 42 64 0 0 1 0 0 ADAM21 8747 broad.mit.edu 37 14 70924528 70924528 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr14:70924528C>T ENST00000603540.1 + 2 570 c.312C>T c.(310-312)ttC>ttT p.F104F ADAM21_ENST00000267499.3_Silent_p.F104F|RP11-486O13.4_ENST00000556646.1_lincRNA NM_003813.3 NP_003804.2 Q9UKJ8 ADA21_HUMAN ADAM metallopeptidase domain 21 104 proteolysis|single fertilization integral to membrane metalloendopeptidase activity|zinc ion binding central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|prostate(1)|skin(2)|stomach(1) 31 all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401) ATCAGCTCTTCATCCCAGATG 0.478000 18 194 0 0 1 0 0 OR2L3 391192 broad.mit.edu 37 1 248224609 248224609 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:248224609C>T ENST00000359959.3 + 1 626 c.626C>T c.(625-627)cCc>cTc p.P209L OR2L13_ENST00000366478.2_Intron NM_001004687.1 NP_001004687.1 Q8NG85 OR2L3_HUMAN olfactory receptor, family 2, subfamily L, member 3 209 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(2)|large_intestine(7)|lung(28)|prostate(1)|skin(1)|urinary_tract(1) 41 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0278) CTCGTGTTTCCCTTCATTGCT 0.507000 13 278 0 0 1 0 0 DNAH5 1767 broad.mit.edu 37 5 13882852 13882852 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:13882852C>T ENST00000265104.4 - 21 3351 c.3247G>A c.(3247-3249)Gaa>Aaa p.E1083K CTB-51A17.1_ENST00000503244.1_RNA NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 1083 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) AGTTCATTTTCTCCCATTTCA 0.303000 Kartagener syndrome 30 16 0 0 1 0 0 CHD8 57680 broad.mit.edu 37 14 21869173 21869173 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr14:21869173G>A ENST00000399982.2 - 21 4295 c.4231C>T c.(4231-4233)Ctg>Ttg p.L1411L CHD8_ENST00000555962.1_Intron|CHD8_ENST00000430710.3_Silent_p.L1132L|CHD8_ENST00000557364.1_Silent_p.L1411L NM_001170629.1 NP_001164100.1 Q9HCK8 CHD8_HUMAN chromodomain helicase DNA binding protein 8 1411 ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent MLL1 complex ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 85 all_cancers(95;0.00121) Epithelial(56;2.55e-06)|all cancers(55;1.73e-05) GBM - Glioblastoma multiforme(265;0.00424) TCATCTTTCAGAGTGCTAAAG 0.458000 25 42 0 0 1 0 0 MYH4 4622 broad.mit.edu 37 17 10352238 10352238 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:10352238C>T ENST00000255381.2 - 31 4418 c.4308G>A c.(4306-4308)gtG>gtA p.V1436V CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA NM_017533.2 NP_060003.2 Q9Y623 MYH4_HUMAN myosin, heavy chain 4, skeletal muscle 1436 muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 149 TAGATCGTTCCACATCAATCA 0.443000 35 94 0 0 1 0 0 AK5 26289 broad.mit.edu 37 1 77752680 77752680 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:77752680G>A ENST00000344720.5 + 2 1063 c.37G>A c.(37-39)Gaa>Aaa p.E13K AK5_ENST00000317704.4_3'UTR|AK5_ENST00000354567.2_Missense_Mutation_p.E39K NM_012093.3 NP_036225.2 Q9Y6K8 KAD5_HUMAN adenylate kinase 5 39 ADP biosynthetic process|ATP metabolic process|dADP biosynthetic process|nucleobase, nucleoside and nucleotide interconversion|pyrimidine ribonucleotide biosynthetic process|signal transduction centrosome|cytosol adenylate kinase activity|ATP binding|cAMP-dependent protein kinase regulator activity|nucleoside kinase activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|prostate(1)|skin(2)|stomach(1) 40 AGAATACTTGGAAAGTTGTTT 0.363000 40 82 0 0 1 0 0 FAM131B 9715 broad.mit.edu 37 7 143054043 143054043 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:143054043G>A ENST00000409408.1 - 6 2307 c.599C>T c.(598-600)tCg>tTg p.S200L FAM131B_ENST00000409346.1_Missense_Mutation_p.S200L|FAM131B_ENST00000409222.3_Missense_Mutation_p.S200L|FAM131B_ENST00000409578.1_Missense_Mutation_p.S216L|FAM131B_ENST00000443739.2_Missense_Mutation_p.S228L Q86XD5 F131B_HUMAN family with sequence similarity 131, member B 200 breast(1)|endometrium(4)|large_intestine(3)|lung(13)|ovary(1)|skin(2) 24 Melanoma(164;0.205) GGCATCTGACGACCCCAGACA 0.552000 32 94 0 0 1 0 0 CYP4X1 260293 broad.mit.edu 37 1 47505115 47505115 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:47505115C>T ENST00000371901.3 + 8 1234 c.984C>T c.(982-984)atC>atT p.I328I CYP4X1_ENST00000466294.1_3'UTR|CYP4X1_ENST00000538609.1_Silent_p.I327I NM_178033.1 NP_828847.1 Q8N118 CP4X1_HUMAN cytochrome P450, family 4, subfamily X, polypeptide 1 328 endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(1) 17 TCTCCTGGATCCTTTACTGCC 0.517000 32 79 0 0 1 0 0 DNAH17 8632 broad.mit.edu 37 17 76525575 76525575 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:76525575C>T ENST00000389840.5 - 22 3610 c.3486G>A c.(3484-3486)gaG>gaA p.E1162E DNAH17_ENST00000585328.1_Silent_p.E1159E dynein, axonemal, heavy chain 17 NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 116 BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656) AGTGGATCTCCTCTGGCATCT 0.592000 38 170 0 0 1 0 0 PANK4 55229 broad.mit.edu 37 1 2452207 2452207 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:2452207G>A ENST00000378466.3 - 4 573 c.561C>T c.(559-561)ttC>ttT p.F187F PANK4_ENST00000435556.3_Silent_p.F148F NM_018216.1 NP_060686.1 Q9NVE7 PANK4_HUMAN pantothenate kinase 4 187 coenzyme A biosynthetic process cytoplasm ATP binding|pantothenate kinase activity breast(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4) 23 all_cancers(77;0.000158)|all_epithelial(69;8.01e-05)|all_lung(157;0.0212)|Lung NSC(156;0.0376)|Ovarian(185;0.0634) all_epithelial(116;3.18e-20)|all_lung(118;1.67e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123) Epithelial(90;1.54e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.95e-23)|GBM - Glioblastoma multiforme(42;2.81e-08)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.00445)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201) GAAGATAGGGGAAAATGTGGG 0.502000 47 77 0 0 1 0 0 SPAG5 10615 broad.mit.edu 37 17 26913151 26913151 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:26913151G>A ENST00000321765.5 - 6 1894 c.1562C>T c.(1561-1563)tCc>tTc p.S521F NM_006461.3 NP_006452.3 Q96R06 SPAG5_HUMAN sperm associated antigen 5 521 cell division|mitosis|phosphatidylinositol-mediated signaling|spindle organization condensed chromosome kinetochore|cytoplasm|spindle pole protein binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 43 Lung NSC(42;0.00431) ATGCAACAGGGATAGGTGAAG 0.438000 40 70 0 0 1 0 0 KCNK5 8645 broad.mit.edu 37 6 39159259 39159259 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:39159259C>T ENST00000359534.3 - 5 1245 c.907G>A c.(907-909)Gac>Aac p.D303N NM_003740.3 NP_003731.1 O95279 KCNK5_HUMAN potassium channel, subfamily K, member 5 303 excretion integral to plasma membrane potassium channel activity|voltage-gated ion channel activity p.D303Y(1)|p.D303N(1) central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(4)|skin(3) 19 TTGATGAGGTCGTTGTAGGTC 0.627000 168 184 0 0 1 0 0 TMEM33 55161 broad.mit.edu 37 4 41956155 41956155 + Missense_Mutation SNP T T G TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:41956155T>G ENST00000504986.1 + 7 1048 c.683T>G c.(682-684)gTg>gGg p.V228G TMEM33_ENST00000325094.5_Missense_Mutation_p.V228G|TMEM33_ENST00000513702.1_Missense_Mutation_p.V228G NM_018126.2 NP_060596.2 P57088 TMM33_HUMAN transmembrane protein 33 228 integral to membrane|melanosome protein binding endometrium(1)|large_intestine(3)|lung(4)|ovary(1) 9 CCACTGTTTGTGAGAAGACTT 0.353000 53 122 0 0 1 0 0 VNN3 55350 broad.mit.edu 37 6 133055454 133055454 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:133055454G>A ENST00000425515.2 - 2 354 c.282C>T c.(280-282)taC>taT p.Y94Y VNN3_ENST00000414302.2_Silent_p.Y94Y|VNN3_ENST00000427187.2_Silent_p.Y94Y|VNN3_ENST00000392393.3_Silent_p.Y94Y|VNN3_ENST00000450865.2_Silent_p.Y95Y|VNN3_ENST00000207771.3_Silent_p.Y94Y|VNN3_ENST00000519686.2_Silent_p.Y94Y|VNN3_ENST00000392394.2_Silent_p.Y94Y|VNN3_ENST00000367927.5_Silent_p.Y94Y|VNN3_ENST00000423615.2_Silent_p.Y94Y|VNN3_ENST00000509351.1_Silent_p.Y94Y|VNN3_ENST00000275223.3_Silent_p.Y94Y|VNN3_ENST00000417437.2_Silent_p.Y126Y vanin 3 cervix(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)|stomach(1) 8 Breast(56;0.135) OV - Ovarian serous cystadenocarcinoma(155;0.00242)|GBM - Glioblastoma multiforme(226;0.0168) CTAGATAGGGGTAAATGCTCT 0.428000 49 47 0 0 1 0 0 OR1D5 8386 broad.mit.edu 37 17 2966467 2966467 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:2966467G>A ENST00000575751.1 - 1 434 c.435C>T c.(433-435)ctC>ctT p.L145L NM_014566.1 NP_055381.1 P58170 OR1D5_HUMAN olfactory receptor, family 1, subfamily D, member 5 145 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity kidney(1)|lung(10) 11 AACACAAGGAGAGGAGCAAGA 0.587000 10 25 0 0 1 0 0 RMDN2 151393 broad.mit.edu 37 2 38178446 38178446 + Missense_Mutation SNP C C T rs141147110 TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:38178446C>T ENST00000407257.1 + 2 235 c.88C>T c.(88-90)Cgt>Tgt p.R30C RMDN2_ENST00000406384.1_Intron|RMDN2_ENST00000402091.3_Missense_Mutation_p.R30C|RMDN2-AS1_ENST00000414365.2_RNA|RMDN2_ENST00000354545.2_Intron|RMDN2_ENST00000234195.3_Missense_Mutation_p.R30C|RMDN2_ENST00000417700.2_Intron regulator of microtubule dynamics 2 CGCCCAGCATCGTGGAGCCTC 0.433000 37 66 0 0 1 0 0 ANKFN1 162282 broad.mit.edu 37 17 54428170 54428170 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:54428170C>T ENST00000566473.2 + 4 241 c.241C>T c.(241-243)Ctc>Ttc p.L81F ANKFN1_ENST00000318698.2_Missense_Mutation_p.L81F Q8N957 ANKF1_HUMAN ankyrin-repeat and fibronectin type III domain containing 1 81 NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1) 53 AAATTTACATCTCTGTCAGTC 0.408000 35 135 0 0 1 0 0 SPTBN1 6711 broad.mit.edu 37 2 54887099 54887099 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:54887099C>T ENST00000333896.5 + 31 6729 c.6344C>T c.(6343-6345)tCc>tTc p.S2115F SPTBN1_ENST00000356805.4_Missense_Mutation_p.S2128F NM_178313.2 NP_842565.2 Q01082 SPTB2_HUMAN spectrin, beta, non-erythrocytic 1 2128 actin filament capping|axon guidance cytosol|nucleolus|plasma membrane|sarcomere|spectrin actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 82 Lung(47;0.24) GAACAAGTTTCCCAAAACGGT 0.463000 24 34 0 0 1 0 0 CHST8 64377 broad.mit.edu 37 19 34263702 34263702 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:34263702C>T ENST00000262622.3 + 4 1767 c.1009C>T c.(1009-1011)Ccc>Tcc p.P337S CHST8_ENST00000434302.1_Missense_Mutation_p.P337S|CHST8_ENST00000438847.2_Missense_Mutation_p.P337S NM_022467.3 NP_071912.2 Q9H2A9 CHST8_HUMAN carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 8 337 carbohydrate biosynthetic process|central nervous system development|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process Golgi membrane|integral to membrane N-acetylgalactosamine 4-O-sulfotransferase activity NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(5) 27 Esophageal squamous(110;0.162) GCTCTGCAGCCCCTGCCTCAT 0.612000 24 74 0 0 1 0 0 FAM188A 80013 broad.mit.edu 37 10 15838144 15838144 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:15838144G>A ENST00000378036.1 - 2 1201 c.25C>T c.(25-27)Cct>Tct p.P9S FAM188A_ENST00000277632.3_Missense_Mutation_p.P304S|FAM188A_ENST00000477891.1_5'UTR Q9H8M7 F188A_HUMAN family with sequence similarity 188, member A 304 apoptosis nucleus calcium ion binding breast(2)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|skin(2) 22 TGTTCTGAAGGAGCTTCAGGG 0.358000 82 156 0 0 1 0 0 SPATA31D5P 347127 broad.mit.edu 37 9 84532751 84532751 + RNA SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:84532751C>T ENST00000527857.1 + 0 2773 NR_026851.1 TTAAAACTTTCCGTATGAGGA 0.433000 16 28 0 0 1 0 0 SORCS2 57537 broad.mit.edu 37 4 7731398 7731398 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:7731398C>T ENST00000507866.2 + 23 3176 c.3067C>T c.(3067-3069)Cct>Tct p.P1023S SORCS2_ENST00000329016.9_Missense_Mutation_p.P851S NM_020777.2 NP_065828.2 Q96PQ0 SORC2_HUMAN sortilin-related VPS10 domain containing receptor 2 1023 integral to membrane neuropeptide receptor activity autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(8)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 42 GCTCCTGCCCCCTCCCAGGCC 0.632000 7 20 0 0 1 0 0 GRID2 2895 broad.mit.edu 37 4 94006213 94006213 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:94006213C>T ENST00000282020.4 + 3 570 c.312C>T c.(310-312)tcC>tcT p.S104S GRID2_ENST00000505687.1_3'UTR|GRID2_ENST00000510992.1_Intron NM_001510.2 NP_001501.2 O43424 GRID2_HUMAN glutamate receptor, ionotropic, delta 2 104 glutamate signaling pathway cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 Hepatocellular(203;0.114)|all_hematologic(202;0.177) OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191) L-Glutamic Acid(DB00142) CAGCAGGATCCCTCCAGTCTT 0.532000 9 92 0 0 1 0 0 TMEM108 66000 broad.mit.edu 37 3 133109096 133109096 + Nonsense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:133109096G>A ENST00000321871.6 + 5 1733 c.1523G>A c.(1522-1524)tGg>tAg p.W508* TMEM108_ENST00000508711.1_Nonsense_Mutation_p.W38*|TMEM108_ENST00000393130.3_Nonsense_Mutation_p.W508* NM_001136469.1|NM_023943.2 NP_001129941.1|NP_076432.1 Q6UXF1 TM108_HUMAN transmembrane protein 108 508 integral to membrane endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 38 CTGAGCTACTGGAACAACACC 0.527000 151 384 0 0 1 0 0 SLC6A1 6529 broad.mit.edu 37 3 11059056 11059056 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:11059056C>T ENST00000287766.4 + 3 580 c.159C>T c.(157-159)ttC>ttT p.F53F SLC6A1_ENST00000462473.1_Intron|SLC6A1-AS1_ENST00000414969.2_RNA|SLC6A1_ENST00000536032.1_Intron NM_003042.3 NP_003033.3 P30531 SC6A1_HUMAN solute carrier family 6 (neurotransmitter transporter), member 1 53 neurotransmitter secretion integral to plasma membrane gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity breast(1)|endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(1) 26 Ovarian(110;0.0392) OV - Ovarian serous cystadenocarcinoma(96;0.00099) Cocaine(DB00907)|Tiagabine(DB00906) GCTTCGACTTCCTCATGTCCT 0.627000 38 98 0 0 1 0 0 FAM78A 286336 broad.mit.edu 37 9 134136214 134136214 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:134136214G>A ENST00000372271.3 - 2 1214 c.847C>T c.(847-849)Cgg>Tgg p.R283W FAM78A_ENST00000372269.3_Missense_Mutation_p.R280W|FAM78A_ENST00000247295.4_5'UTR NM_033387.3 NP_203745.2 Q5JUQ0 FA78A_HUMAN family with sequence similarity 78, member A 283 NS(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1) 9 all_hematologic(7;0.0028) Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;2.15e-05)|Epithelial(140;0.000267) GGCTGTCACCGGTGCTTGGGC 0.572000 18 223 0 0 1 0 0 AKR1C4 1109 broad.mit.edu 37 10 5248240 5248240 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:5248240C>T ENST00000380448.1 + 7 703 c.450C>T c.(448-450)gtC>gtT p.V150V AKR1C4_ENST00000263126.1_Silent_p.V150V P17516 AK1C4_HUMAN aldo-keto reductase family 1, member C4 150 androgen metabolic process|bile acid biosynthetic process cytosol aldo-keto reductase (NADP) activity|androsterone dehydrogenase (B-specific) activity|bile acid transmembrane transporter activity|chlordecone reductase activity|electron carrier activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(2)|stomach(2)|urinary_tract(1) 18 NADH(DB00157) CTCCCCAGGTCATGGAGAAGT 0.458000 33 73 0 0 1 0 0 PAPPA 5069 broad.mit.edu 37 9 118969835 118969835 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:118969835G>A ENST00000328252.3 + 3 1948 c.1579G>A c.(1579-1581)Gga>Aga p.G527R PAPPA_ENST00000534838.1_Intron NM_002581.3 NP_002572.2 Q13219 PAPP1_HUMAN pregnancy-associated plasma protein A, pappalysin 1 527 Metalloprotease. cell differentiation|female pregnancy cytoplasm|extracellular region|membrane metalloendopeptidase activity|zinc ion binding NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1) 98 GGAGTTGGCAGGAGTAGCAAC 0.433000 21 54 0 0 1 0 0 PCDH18 54510 broad.mit.edu 37 4 138442631 138442631 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:138442631C>T ENST00000344876.4 - 4 3346 c.2960G>A c.(2959-2961)gGa>gAa p.G987E PCDH18_ENST00000511115.1_Missense_Mutation_p.G167E|PCDH18_ENST00000510305.1_Missense_Mutation_p.G198E|PCDH18_ENST00000507846.1_Missense_Mutation_p.G766E|PCDH18_ENST00000412923.2_Missense_Mutation_p.G986E NM_019035.3 NP_061908.1 Q9HCL0 PCD18_HUMAN protocadherin 18 987 Interaction with DAB1 (By similarity). brain development|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 86 all_hematologic(180;0.24) GGAGTCCTTTCCAAAGGTGGA 0.527000 32 85 0 0 1 0 0 PLCE1 51196 broad.mit.edu 37 10 95791437 95791437 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:95791437G>A ENST00000260766.3 + 2 1268 c.634G>A c.(634-636)Gat>Aat p.D212N PLCE1_ENST00000371380.2_Missense_Mutation_p.D212N NM_016341.3 NP_057425.3 Q9P212 PLCE1_HUMAN phospholipase C, epsilon 1 212 activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction cytosol|Golgi membrane|membrane fraction|plasma membrane calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity p.D212N(1) liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1) 8 Colorectal(252;0.0458) AATTTTAGACGATTGTGGAAA 0.388000 20 66 0 0 1 0 0 OR8S1 341568 broad.mit.edu 37 12 48921837 48921837 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:48921837G>A ENST00000310194.1 + 2 1031 c.1031G>A c.(1030-1032)gGg>gAg p.G344E OR8S1_ENST00000551654.1_3'UTR NM_001005203.2 NP_001005203.2 Q8NH09 OR8S1_HUMAN olfactory receptor, family 8, subfamily S, member 1 344 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|skin(4) 22 CAACCCCAAGGGGCCTGCGCA 0.667000 8 18 0 0 1 0 0 KCNH5 27133 broad.mit.edu 37 14 63447835 63447835 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr14:63447835G>A ENST00000322893.7 - 6 965 c.697C>T c.(697-699)Cct>Tct p.P233S KCNH5_ENST00000420622.2_Missense_Mutation_p.P233S|KCNH5_ENST00000394968.1_Missense_Mutation_p.P175S|KCNH5_ENST00000394964.2_Missense_Mutation_p.P175S NM_139318.3 NP_647479.2 Q8NCM2 KCNH5_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 5 233 regulation of transcription, DNA-dependent integral to membrane calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity p.P233S(1) NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2) 99 OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168) ACATTATAAGGAACCATAATG 0.373000 6 62 0 0 1 0 0 WASF2 10163 broad.mit.edu 37 1 27741418 27741418 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:27741418G>A ENST00000430629.2 - 6 792 c.577C>T c.(577-579)Cca>Tca p.P193S WASF2_ENST00000536657.1_Missense_Mutation_p.P193S NM_001201404.1|NM_006990.3 NP_001188333.1|NP_008921.1 Q9Y6W5 WASF2_HUMAN WAS protein family, member 2 193 actin cytoskeleton organization|G-protein signaling, coupled to cAMP nucleotide second messenger actin cytoskeleton|lamellipodium actin binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 18 all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0446)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.7e-08)|COAD - Colon adenocarcinoma(152;2e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00139)|KIRC - Kidney renal clear cell carcinoma(1967;0.00204)|STAD - Stomach adenocarcinoma(196;0.00325)|READ - Rectum adenocarcinoma(331;0.0481) ATTTTACGTGGGTTTACATTC 0.373000 11 132 0 0 1 0 0 ZNF804A 91752 broad.mit.edu 37 2 185800578 185800578 + Missense_Mutation SNP C C T rs147922206 TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:185800578C>T ENST00000302277.6 + 4 1049 c.455C>T c.(454-456)tCc>tTc p.S152F NM_194250.1 NP_919226.1 Q7Z570 Z804A_HUMAN zinc finger protein 804A 152 intracellular zinc ion binding p.S152F(1)|p.S152Y(1) NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1) 146 AATGAAATTTCCCAACGAGTT 0.368000 39 54 0 0 1 0 0 VWA3B 200403 broad.mit.edu 37 2 98916620 98916620 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:98916620C>T ENST00000477737.1 + 25 3565 c.3361C>T c.(3361-3363)Ccc>Tcc p.P1121S VWA3B_ENST00000490947.2_3'UTR NM_144992.4 NP_659429.4 Q502W6 VWA3B_HUMAN von Willebrand factor A domain containing 3B 1121 NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 70 CATAGCACTTCCCAATAAGCA 0.408000 70 147 0 0 1 0 0 TBC1D25 4943 broad.mit.edu 37 X 48419000 48419000 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chrX:48419000C>T ENST00000376771.4 + 6 2045 c.1704C>T c.(1702-1704)acC>acT p.T568T TBC1D25_ENST00000427713.1_3'UTR|TBC1D25_ENST00000537536.1_Silent_p.T314T NM_002536.2 NP_002527.1 Q3MII6 TBC25_HUMAN TBC1 domain family, member 25 568 intracellular Rab GTPase activator activity large_intestine(1)|lung(1)|ovary(1)|pancreas(1) 4 CACCATCCACCCAGGAGGCCT 0.572000 59 29 0 0 1 0 0 ABCB8 11194 broad.mit.edu 37 7 150730966 150730966 + Silent SNP C C T rs117793104 byFrequency TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:150730966C>T ENST00000358849.4 + 2 463 c.370C>T c.(370-372)Ctg>Ttg p.L124L ABCB8_ENST00000297504.6_Silent_p.L141L|ABCB8_ENST00000477719.1_Silent_p.L124L|ABCB8_ENST00000477092.1_Silent_p.L124L|ABCB8_ENST00000542328.1_Intron|ABCB8_ENST00000498578.1_Silent_p.L124L|ABCB8_ENST00000493338.1_3'UTR|ABCB8_ENST00000356058.4_Silent_p.L161L NM_007188.3 NP_009119.2 Q9NUT2 ABCB8_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 8 141 ATP-binding cassette (ABC) transporter complex|integral to membrane|membrane fraction|mitochondrial inner membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 26 OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) CTGGCAGTTTCTGCACCCCCA 0.627000 51 115 0 0 1 0 0 HYDIN 54768 broad.mit.edu 37 16 70975645 70975645 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr16:70975645G>A ENST00000393567.2 - 43 6897 c.6747C>T c.(6745-6747)ctC>ctT p.L2249L NM_001270974.1 NP_001257903.1 Q4G0P3 HYDIN_HUMAN HYDIN, axonemal central pair apparatus protein 2249 breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 43 Ovarian(137;0.0654) TCAGCAGGCAGAGGAGGGCGG 0.547000 4 98 0 0 1 0 0 COL14A1 7373 broad.mit.edu 37 8 121344395 121344395 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:121344395G>A ENST00000297848.3 + 41 4945 c.4675G>A c.(4675-4677)Gat>Aat p.D1559N COL14A1_ENST00000309791.4_Missense_Mutation_p.D1559N|COL14A1_ENST00000247781.3_Missense_Mutation_p.D1464N NM_021110.1 NP_066933.1 Q05707 COEA1_HUMAN collagen, type XIV, alpha 1 1559 Triple-helical region 1 (COL2). cell-cell adhesion|collagen fibril organization collagen type XIV|extracellular space collagen binding|extracellular matrix structural constituent|protein binding, bridging NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2) 119 Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161) OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503) TCCGGGAAAGGATGGATCCTC 0.458000 36 58 0 0 1 0 0 DGKI 9162 broad.mit.edu 37 7 137080421 137080421 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:137080421C>T ENST00000453654.1 - 32 2550 c.2011G>A c.(2011-2013)Gct>Act p.A671T DGKI_ENST00000494390.1_5'UTR|DGKI_ENST00000446122.1_Missense_Mutation_p.A984T|DGKI_ENST00000424189.2_Missense_Mutation_p.A1015T|DGKI_ENST00000288490.5_Missense_Mutation_p.A1002T O75912 DGKI_HUMAN diacylglycerol kinase, iota 1002 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation nucleus|plasma membrane ATP binding|diacylglycerol kinase activity|metal ion binding breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 84 TGGCAGGCAGCCTTGTGCAGT 0.547000 22 135 0 0 1 0 0 LPIN1 23175 broad.mit.edu 37 2 11919670 11919670 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:11919670C>T ENST00000256720.2 + 6 841 c.748C>T c.(748-750)Cct>Tct p.P250S LPIN1_ENST00000425416.2_Missense_Mutation_p.P256S|LPIN1_ENST00000396099.1_Missense_Mutation_p.P292S|LPIN1_ENST00000396098.1_Missense_Mutation_p.P292S|LPIN1_ENST00000449576.2_Missense_Mutation_p.P335S|LPIN1_ENST00000396097.1_5'UTR NM_145693.2 NP_663731.1 Q14693 LPIN1_HUMAN lipin 1 250 fatty acid catabolic process|transcription, DNA-dependent|triglyceride biosynthetic process|triglyceride mobilization cytosol|endoplasmic reticulum membrane phosphatidate phosphatase activity autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(15)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 45 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.173) ACCTTCAACACCTAAAAGTGA 0.483000 OREG0014444 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 34 72 0 0 1 0 0 OCIAD2 132299 broad.mit.edu 37 4 48906548 48906548 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:48906548G>A ENST00000508632.1 - 2 251 c.19C>T c.(19-21)Cgt>Tgt p.R7C OCIAD2_ENST00000508069.2_5'UTR|OCIAD2_ENST00000273860.4_Missense_Mutation_p.R7C NM_001014446.1 NP_001014446.1 Q56VL3 OCAD2_HUMAN OCIA domain containing 2 7 OCIA. endosome kidney(1)|lung(3)|skin(1)|urinary_tract(1) 6 TGGTTTCCACGAGCAGACGCT 0.428000 44 99 0 0 1 0 0 SPATA31D5P 347127 broad.mit.edu 37 9 84533985 84533985 + RNA SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:84533985G>A ENST00000527857.1 + 0 4007 NR_026851.1 AGGGGATGCAGGGCTGGGGAC 0.498000 4 12 0 0 1 0 0 NR5A1 2516 broad.mit.edu 37 9 127265635 127265635 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:127265635G>A ENST00000373588.4 - 2 236 c.40C>T c.(40-42)Ccc>Tcc p.P14S NM_004959.4 NP_004950.2 Q13285 STF1_HUMAN nuclear receptor subfamily 5, group A, member 1 14 cell-cell signaling|male gonad development|positive regulation of transcription from RNA polymerase II promoter|primary sex determination|regulation of steroid biosynthetic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm enzyme binding|phospholipid binding|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding lung(1)|upper_aerodigestive_tract(1) 2 CCGCACACGGGGCACAGCTCG 0.711000 8 29 0 0 1 0 0 USH2A 7399 broad.mit.edu 37 1 216595260 216595260 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:216595260G>A ENST00000366943.2 - 2 805 c.419C>T c.(418-420)cCt>cTt p.P140L USH2A_ENST00000307340.3_Missense_Mutation_p.P140L|USH2A_ENST00000366942.3_Missense_Mutation_p.P140L O75445 USH2A_HUMAN Usher syndrome 2A (autosomal recessive, mild) 140 maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3) 527 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) CTTTGGAGAAGGAGGAGAAGA 0.413000 HNSCC(13;0.011) 82 93 0 0 1 0 0 MYH8 4626 broad.mit.edu 37 17 10295933 10295933 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:10295933C>T ENST00000403437.2 - 38 5588 c.5494G>A c.(5494-5496)Gaa>Aaa p.E1832K CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA NM_002472.2 NP_002463.2 P13535 MYH8_HUMAN myosin, heavy chain 8, skeletal muscle, perinatal 1832 muscle filament sliding cytosol|muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2) 134 CGTTTCTGTTCATTTTCAACC 0.438000 Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling 86 147 0 0 1 0 0 WIPF1 7456 broad.mit.edu 37 2 175431854 175431854 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:175431854G>A ENST00000392547.2 - 7 1499 c.1400C>T c.(1399-1401)cCa>cTa p.P467L AC018890.6_ENST00000442996.1_RNA|WIPF1_ENST00000272746.5_Missense_Mutation_p.P467L|WIPF1_ENST00000359761.3_Missense_Mutation_p.P467L|WIPF1_ENST00000467149.1_5'UTR|AC018890.6_ENST00000412835.1_RNA|WIPF1_ENST00000409891.1_Missense_Mutation_p.P467L|WIPF1_ENST00000392546.2_Missense_Mutation_p.P467L NM_003387.4 NP_003378.3 O43516 WIPF1_HUMAN WAS/WASL interacting protein family, member 1 467 actin polymerization or depolymerization|protein complex assembly cytoplasmic membrane-bounded vesicle actin binding|profilin binding NS(1)|breast(1)|endometrium(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1) 32 TTGTACATATGGCTCTGGAGG 0.448000 32 58 0 0 1 0 0 DNAH3 55567 broad.mit.edu 37 16 21060897 21060897 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr16:21060897C>T ENST00000261383.3 - 31 4453 c.4454G>A c.(4453-4455)aGg>aAg p.R1485K DNAH3_ENST00000415178.1_Missense_Mutation_p.R1485K NM_017539.1 NP_060009.1 Q8TD57 DYH3_HUMAN dynein, axonemal, heavy chain 3 1485 AAA 1 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6) 202 GBM - Glioblastoma multiforme(48;0.207) TACCTCGATCCTGTTGAACTC 0.502000 39 75 0 0 1 0 0 CATSPERG 57828 broad.mit.edu 37 19 38851475 38851475 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:38851475G>A ENST00000409235.3 + 16 1987 c.1872G>A c.(1870-1872)gaG>gaA p.E624E CATSPERG_ENST00000215069.4_3'UTR|CATSPERG_ENST00000410018.1_Silent_p.E584E NM_021185.4 NP_067008.3 Q6ZRH7 CTSRG_HUMAN catsper channel auxiliary subunit gamma 624 cell differentiation|multicellular organismal development|spermatogenesis integral to membrane breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|pancreas(2)|prostate(6)|skin(3)|stomach(1)|urinary_tract(2) 40 ATGACTTGGAGCGGAAAGGGT 0.567000 7 25 0 0 1 0 0 FCAR 2204 broad.mit.edu 37 19 55401079 55401079 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:55401079C>T ENST00000391723.3 + 4 604 c.604C>T c.(604-606)Cgt>Tgt p.R202C FCAR_ENST00000345937.4_Silent_p.L142L|FCAR_ENST00000482092.2_3'UTR|FCAR_ENST00000391724.3_Silent_p.L204L|FCAR_ENST00000359272.4_Silent_p.L226L|FCAR_ENST00000391726.3_Silent_p.L130L|FCAR_ENST00000391725.3_Silent_p.L216L|FCAR_ENST00000353758.4_Silent_p.L129L|FCAR_ENST00000355524.3_Silent_p.L238L NM_133274.2 NP_579808.1 P24071 FCAR_HUMAN Fc fragment of IgA, receptor for 0 immune response extracellular region|integral to plasma membrane IgA binding|receptor activity p.L238L(1) breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(2) 24 GBM - Glioblastoma multiforme(193;0.0443) GACTGGTCCTCGTGGCTCTCT 0.542000 208 407 0 0 1 0 0 CDHR2 54825 broad.mit.edu 37 5 176003120 176003120 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:176003120G>A ENST00000510636.1 + 12 1402 c.1128G>A c.(1126-1128)gtG>gtA p.V376V CDHR2_ENST00000261944.5_Silent_p.V376V|CDHR2_ENST00000506348.1_Silent_p.V376V NM_001171976.1 NP_001165447.1 Q9BYE9 CDHR2_HUMAN cadherin-related family member 2 376 Cadherin 4. homophilic cell adhesion|negative regulation of cell growth apical plasma membrane|cell junction|integral to membrane calcium ion binding|protein binding breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1) 56 CTGGCTACGTGGACGAGCATG 0.617000 7 109 0 0 1 0 0 SPHKAP 80309 broad.mit.edu 37 2 228884353 228884353 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:228884353C>T ENST00000392056.3 - 7 1263 c.1217G>A c.(1216-1218)aGa>aAa p.R406K SPHKAP_ENST00000344657.5_Missense_Mutation_p.R406K NM_001142644.1 NP_001136116.1 Q2M3C7 SPKAP_HUMAN SPHK1 interactor, AKAP domain containing 406 cytoplasm protein binding NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 185 Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23) Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232) TTGAGATAATCTAATAAATGC 0.443000 37 80 0 0 1 0 0 CHRNB2 1141 broad.mit.edu 37 1 154544175 154544175 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:154544175C>T ENST00000368476.3 + 5 1140 c.876C>T c.(874-876)ctC>ctT p.L292L NM_000748.2 NP_000739.1 P17787 ACHB2_HUMAN cholinergic receptor, nicotinic, beta 2 (neuronal) 292 B cell activation|behavioral response to nicotine|calcium ion transport|central nervous system projection neuron axonogenesis|lateral geniculate nucleus development|locomotory behavior|membrane depolarization|memory|negative regulation of action potential|optic nerve morphogenesis|positive regulation of B cell proliferation|positive regulation of dopamine secretion|regulation of circadian sleep/wake cycle, REM sleep|regulation of dendrite morphogenesis|regulation of dopamine metabolic process|regulation of synaptogenesis|response to cocaine|response to ethanol|response to hypoxia|sensory perception of pain|sensory perception of sound|smooth muscle contraction|social behavior|synaptic transmission involved in micturition|synaptic transmission, cholinergic|vestibulocochlear nerve development|visual learning|visual perception cell junction|external side of plasma membrane|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity cervix(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|skin(1)|urinary_tract(3) 28 all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088) LUSC - Lung squamous cell carcinoma(543;0.185) Nicotine(DB00184) CCACCTCCCTCGACGTGCCGC 0.602000 61 103 0 0 1 0 0 OPRK1 4986 broad.mit.edu 37 8 54141977 54141977 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:54141977G>A ENST00000265572.3 - 4 1320 c.1023C>T c.(1021-1023)ttC>ttT p.F341F RP11-162D9.3_ENST00000524425.1_RNA|OPRK1_ENST00000520287.1_Silent_p.F341F|OPRK1_ENST00000524278.1_Silent_p.F252F NM_000912.3 NP_000903.2 P41145 OPRK_HUMAN opioid receptor, kappa 1 341 behavior|immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception|synaptic transmission|viral genome replication integral to plasma membrane kappa-opioid receptor activity|protein binding NS(2)|breast(3)|endometrium(3)|kidney(12)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1) 43 all_epithelial(80;0.066)|Lung NSC(129;0.0804)|all_lung(136;0.136) Buprenorphine(DB00921)|Butorphanol(DB00611)|Cocaine(DB00907)|Codeine(DB00318)|Dezocine(DB01209)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Meperidine(DB00454)|Mirtazapine(DB00370)|Morphine(DB00295)|Nalbuphine(DB00844)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Tramadol(DB00193) AGAAGTCCCGGAAACACCGCT 0.493000 36 46 0 0 1 0 0 BDNF 627 broad.mit.edu 37 11 27695807 27695807 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:27695807G>A ENST00000438929.1 - 2 165 c.25C>T c.(25-27)Cat>Tat p.H9Y BDNF_ENST00000420794.1_5'UTR|BDNF_ENST00000395980.2_Intron|BDNF_ENST00000395986.2_Intron|BDNF_ENST00000532997.1_Intron|BDNF_ENST00000418212.1_Intron|BDNF_ENST00000395983.3_Intron|BDNF_ENST00000533131.1_Intron|BDNF_ENST00000395978.3_Intron|BDNF-AS_ENST00000502161.2_RNA|BDNF-AS_ENST00000530686.1_RNA|BDNF-AS_ENST00000500662.2_RNA|BDNF_ENST00000314915.6_Intron|BDNF_ENST00000525950.1_Intron|BDNF-AS_ENST00000501176.2_RNA|BDNF-AS_ENST00000499008.3_RNA|BDNF-AS_ENST00000501663.2_RNA|BDNF_ENST00000356660.4_Intron|BDNF_ENST00000395981.3_Intron|BDNF_ENST00000533246.1_Intron|BDNF_ENST00000584049.1_Intron|BDNF_ENST00000530861.1_Intron|BDNF-AS_ENST00000499568.2_RNA NM_001143810.1 NP_001137282.1 P23560 BDNF_HUMAN brain-derived neurotrophic factor 0 extracellular region growth factor activity breast(1)|large_intestine(3)|lung(2) 6 GTGCACTCATGGAGAAAACTG 0.428000 4 10 0 0 1 0 0 KALRN 8997 broad.mit.edu 37 3 124048821 124048821 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:124048821G>A ENST00000360013.3 + 8 1519 c.1392G>A c.(1390-1392)gtG>gtA p.V464V KALRN_ENST00000460856.1_Silent_p.V464V|KALRN_ENST00000240874.3_Silent_p.V464V NM_001024660.3 NP_001019831.2 O60229 KALRN_HUMAN kalirin, RhoGEF kinase 464 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport actin cytoskeleton|cytosol ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 83 ATGAGCAGGTGACCCAAGCCT 0.572000 47 95 0 0 1 0 0 EMR1 2015 broad.mit.edu 37 19 6928188 6928188 + Nonsense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:6928188G>A ENST00000312053.4 + 17 2292 c.2255G>A c.(2254-2256)tGg>tAg p.W752* EMR1_ENST00000381407.5_Nonsense_Mutation_p.W611*|EMR1_ENST00000450315.3_Nonsense_Mutation_p.W575*|EMR1_ENST00000250572.8_Nonsense_Mutation_p.W687*|EMR1_ENST00000381404.4_Nonsense_Mutation_p.W700* NM_001974.4 NP_001965.3 Q14246 EMR1_HUMAN egf-like module containing, mucin-like, hormone receptor-like 1 752 cell adhesion|neuropeptide signaling pathway integral to plasma membrane calcium ion binding|G-protein coupled receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8) 62 all_hematologic(4;0.166) GGGTTCATCTGGAGTTTCTTG 0.502000 7 208 0 0 1 0 0 TDRD1 56165 broad.mit.edu 37 10 115978283 115978283 + Nonsense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:115978283C>T ENST00000251864.2 + 18 2587 c.2434C>T c.(2434-2436)Cga>Tga p.R812* TDRD1_ENST00000369280.1_Nonsense_Mutation_p.R812*|TDRD1_ENST00000369281.2_Intron|TDRD1_ENST00000422662.1_Nonsense_Mutation_p.R416*|TDRD1_ENST00000369282.1_Nonsense_Mutation_p.R812* NM_198795.1 NP_942090.1 Q9BXT4 TDRD1_HUMAN tudor domain containing 1 812 Tudor 3. DNA methylation involved in gamete generation|gene silencing by RNA|germ cell development|meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis pi-body nucleic acid binding|protein binding|zinc ion binding p.R812*(1) breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5) 48 Colorectal(252;0.172)|Breast(234;0.188) Epithelial(162;0.0343)|all cancers(201;0.0754) AGATGAACTCCGAATGATATC 0.358000 38 93 0 0 1 0 0 DNM2 1785 broad.mit.edu 37 19 10935753 10935753 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:10935753C>T ENST00000314646.5 + 18 2078 c.1914C>T c.(1912-1914)gcC>gcT p.A638A DNM2_ENST00000408974.4_Silent_p.A634A|DNM2_ENST00000585892.1_Silent_p.A638A|DNM2_ENST00000389253.4_Silent_p.A638A|DNM2_ENST00000355667.6_Silent_p.A638A|DNM2_ENST00000359692.6_Silent_p.A634A P50570 DYN2_HUMAN dynamin 2 638 G2/M transition of mitotic cell cycle|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|post-Golgi vesicle-mediated transport|receptor internalization|signal transduction|synaptic vesicle transport|transferrin transport cell junction|cytosol|Golgi membrane|microtubule|postsynaptic density|postsynaptic membrane GTP binding|GTPase activity|microtubule binding breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2) 42 Epithelial(33;4.17e-05)|all cancers(31;8.48e-05) AGGATGGGGCCCAGGAGAACA 0.592000 """F, N, Splice, Mis, O""" ETP ALL 57 130 0 0 1 0 0 FAM170A 340069 broad.mit.edu 37 5 118969664 118969664 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:118969664G>A ENST00000515256.1 + 3 393 c.221G>A c.(220-222)aGa>aAa p.R74K A1A519 F170A_HUMAN family with sequence similarity 170, member A 74 intracellular zinc ion binding breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 24 GGAATCCAGAGAATACATCGA 0.522000 29 60 0 0 1 0 0 HIF1AN 55662 broad.mit.edu 37 10 102305732 102305732 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:102305732C>T ENST00000299163.5 + 5 856 c.756C>T c.(754-756)ttC>ttT p.F252F NM_017902.2 NP_060372.2 Q9NWT6 HIF1N_HUMAN hypoxia inducible factor 1, alpha subunit inhibitor 252 Interaction with HIF1A.|Interaction with VHL.|JmjC. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity|protein binding NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(1)|prostate(2)|urinary_tract(1) 10 Colorectal(252;0.234) Epithelial(162;6.75e-10)|all cancers(201;4.88e-08) ACGAGAGGTTCCCTAATTTCC 0.443000 72 207 0 0 1 0 0 MYH6 4624 broad.mit.edu 37 14 23862668 23862668 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr14:23862668C>T ENST00000405093.3 - 23 3058 c.2988G>A c.(2986-2988)aaG>aaA p.K996K MYH6_ENST00000356287.3_Silent_p.K996K NM_002471.3 NP_002462.2 P13533 MYH6_HUMAN myosin, heavy chain 6, cardiac muscle, alpha 996 adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 119 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441) CTTTCTTCTCCTTGGTCAGCT 0.517000 71 168 0 0 1 0 0 ABCC5 10057 broad.mit.edu 37 3 183669338 183669338 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:183669338G>A ENST00000334444.6 - 20 3075 c.2835C>T c.(2833-2835)tcC>tcT p.S945S ABCC5_ENST00000265586.6_Silent_p.S945S NM_005688.2 NP_005679.2 O15440 MRP5_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 5 945 ABC transmembrane type-1 2. integral to plasma membrane|membrane fraction ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 62 all_cancers(143;1.85e-10)|Ovarian(172;0.0303) Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22) CATGCAGCCGGGAGGAAGCTC 0.572000 41 84 0 0 1 0 0 CACNA1E 777 broad.mit.edu 37 1 181762864 181762864 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:181762864G>A ENST00000357570.5 + 45 6127 c.5815G>A c.(5815-5817)Gac>Aac p.D1939N CACNA1E_ENST00000367570.1_Intron|CACNA1E_ENST00000358338.5_Intron|CACNA1E_ENST00000526775.1_Intron|CACNA1E_ENST00000367567.4_Intron|CACNA1E_ENST00000367573.2_Missense_Mutation_p.D1988N|CACNA1E_ENST00000360108.3_Missense_Mutation_p.D1969N Q15878 CAC1E_HUMAN calcium channel, voltage-dependent, R type, alpha 1E subunit 1988 energy reserve metabolic process|membrane depolarization|synaptic transmission voltage-gated calcium channel complex voltage-gated calcium channel activity NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 204 CCTTCCTTCGGACACCCAGGA 0.512000 17 18 0 0 1 0 0 DNAH7 56171 broad.mit.edu 37 2 196749427 196749427 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:196749427G>A ENST00000312428.6 - 35 5745 c.5645C>T c.(5644-5646)tCa>tTa p.S1882L NM_018897.2 NP_061720.2 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 1882 ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3) 205 AGTTCGATCTGAAATTGGACT 0.358000 32 49 0 0 1 0 0 TM4SF19 116211 broad.mit.edu 37 3 196051264 196051264 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:196051264C>T ENST00000446879.1 - 4 452 c.327G>A c.(325-327)ctG>ctA p.L109L TM4SF19-AS1_ENST00000452051.1_RNA|TM4SF19_ENST00000454715.1_Silent_p.L83L|TM4SF19_ENST00000273695.3_Silent_p.L109L Q96DZ7 T4S19_HUMAN transmembrane 4 L six family member 19 109 integral to membrane endometrium(2)|kidney(2)|large_intestine(3)|lung(5) 12 all_cancers(143;1.19e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Epithelial(36;3.94e-24)|all cancers(36;4.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.53e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.00314) CAAAGCAAATCAGGGCTCCAA 0.498000 31 58 0 0 1 0 0 MUC17 140453 broad.mit.edu 37 7 100682490 100682490 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:100682490C>T ENST00000306151.4 + 3 7857 c.7793C>T c.(7792-7794)cCt>cTt p.P2598L NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 2598 59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) TCAACAACTCCTGTTGACACC 0.463000 12 883 0 0 1 0 0 SETX 23064 broad.mit.edu 37 9 135201898 135201898 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:135201898G>A ENST00000372169.2 - 10 5269 c.5087C>T c.(5086-5088)tCt>tTt p.S1696F SETX_ENST00000393220.1_Missense_Mutation_p.S1696F|SETX_ENST00000224140.5_Missense_Mutation_p.S1696F Q7Z333 SETX_HUMAN senataxin 1696 cell death|double-strand break repair|RNA processing cytoplasm|nucleolus|nucleoplasm ATP binding|DNA helicase activity breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 97 Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171) GTCAGAGACAGACTGTGATGA 0.403000 6 105 0 0 1 0 0 FPGT-TNNI3K 100526835 broad.mit.edu 37 1 74833626 74833626 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:74833626G>A ENST00000370895.1 + 15 1637 c.1602G>A c.(1600-1602)ggG>ggA p.G534G TNNI3K_ENST00000326637.3_Silent_p.G433G|FPGT-TNNI3K_ENST00000370899.3_Silent_p.G534G|TNNI3K_ENST00000370891.2_Silent_p.G534G|FPGT-TNNI3K_ENST00000557284.1_Silent_p.G534G|RP11-439H8.4_ENST00000415549.2_RNA Q59H18 TNI3K_HUMAN 433 Protein kinase. cytoplasm|nucleus ATP binding|metal ion binding|protein C-terminus binding|protein serine/threonine kinase activity|troponin I binding CACCCTTGGGGAAGATTAAAA 0.294000 28 101 0 0 1 0 0 ODF2 4957 broad.mit.edu 37 9 131256803 131256803 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:131256803C>T ENST00000303890.5 + 19 2280 c.1695C>T c.(1693-1695)ttC>ttT p.F565F ODF2_ENST00000372796.4_Silent_p.F589F|ODF2_ENST00000393533.2_Silent_p.F589F|ODF2_ENST00000448249.3_Silent_p.F508F|ODF2_ENST00000372807.5_Silent_p.F584F|ODF2_ENST00000372814.3_Silent_p.F633F|ODF2_ENST00000372791.3_Silent_p.F570F|ODF2_ENST00000546203.1_Silent_p.F570F|ODF2_ENST00000444119.2_Silent_p.F565F|ODF2_ENST00000351030.3_Silent_p.F584F|ODF2_ENST00000434106.2_Silent_p.F589F NM_002540.4 NP_002531.3 Q5BJF6 ODFP2_HUMAN outer dense fiber of sperm tails 2 589 cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis centriole|cilium|cytosol|microtubule|spindle pole protein binding|structural molecule activity autonomic_ganglia(1)|breast(7)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 37 GAAGGCAGTTCCAGTCTCAGC 0.567000 4 99 0 0 1 0 0 COL4A4 1286 broad.mit.edu 37 2 227966265 227966265 + Silent SNP T T C TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:227966265T>C ENST00000396625.3 - 17 1191 c.984A>G c.(982-984)ctA>ctG p.L328L COL4A4_ENST00000329662.7_Silent_p.L328L NM_000092.4 NP_000083.3 P53420 CO4A4_HUMAN collagen, type IV, alpha 4 328 Triple-helical region. axon guidance|glomerular basement membrane development basal lamina|collagen type IV extracellular matrix structural constituent|protein binding breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 98 Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242) Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181) CAACCAGTCCTAGTTCTCCCT 0.343000 14 29 0 0 1 0 0 GFI1B 8328 broad.mit.edu 37 9 135863815 135863815 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:135863815C>T ENST00000339463.3 + 8 1289 c.470C>T c.(469-471)tCc>tTc p.S157F GFI1B_ENST00000534944.1_Missense_Mutation_p.S157F|GFI1B_ENST00000372123.1_Missense_Mutation_p.S157F|GFI1B_ENST00000450530.1_Missense_Mutation_p.S157F|GFI1B_ENST00000372122.1_Missense_Mutation_p.S157F|GFI1B_ENST00000372124.1_Missense_Mutation_p.S157F Q5VTD9 GFI1B_HUMAN growth factor independent 1B transcription repressor 157 Interaction with ARIH2. cell proliferation|chromatin modification|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle|transcription from RNA polymerase II promoter nucleus DNA binding|protein binding|zinc ion binding central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(1) 21 OV - Ovarian serous cystadenocarcinoma(145;9.04e-07)|Epithelial(140;1.17e-05) CTCCGCTACTCCCCAGGCATG 0.637000 15 55 0 0 1 0 0 IGHV3-20 28445 broad.mit.edu 37 14 106667859 106667859 + RNA SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr14:106667859C>T ENST00000390606.2 - 0 134 CCCCCAGACTCCACCAGCTGC 0.562000 11 198 0 0 1 0 0 FURIN 5045 broad.mit.edu 37 15 91424956 91424956 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr15:91424956C>T ENST00000268171.3 + 16 2512 c.2233C>T c.(2233-2235)Cgg>Tgg p.R745W NM_002569.2 NP_002560.1 P09958 FURIN_HUMAN furin (paired basic amino acid cleaving enzyme) 745 cell proliferation|negative regulation of low-density lipoprotein particle receptor catabolic process|negative regulation of transforming growth factor-beta1 production|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|Notch signaling pathway|peptide biosynthetic process|peptidyl-glutamic acid carboxylation|post-translational protein modification|secretion by cell|signal peptide processing|transforming growth factor beta receptor signaling pathway|viral assembly, maturation, egress, and release cell surface|Golgi lumen|Golgi membrane|integral to membrane|membrane raft|plasma membrane|trans-Golgi network|trans-Golgi network transport vesicle metal ion binding|nerve growth factor binding|peptide binding|protease binding|serine-type endopeptidase activity|serine-type endopeptidase inhibitor activity breast(1)|central_nervous_system(4)|endometrium(4)|large_intestine(3)|liver(2)|lung(13)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3) 36 Lung NSC(78;0.0771)|all_lung(78;0.137) Lung(145;0.189) CTTTAGTTTTCGGGGGGTGAA 0.617000 65 155 0 0 1 0 0 PLCB2 5330 broad.mit.edu 37 15 40590483 40590483 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr15:40590483G>A ENST00000260402.3 - 11 1345 c.1096C>T c.(1096-1098)Cct>Tct p.P366S PLCB2_ENST00000557821.1_Missense_Mutation_p.P366S|PLCB2_ENST00000456256.2_Missense_Mutation_p.P366S NM_004573.2 NP_004564.2 Q00722 PLCB2_HUMAN phospholipase C, beta 2 366 PI-PLC X-box. activation of phospholipase C activity|intracellular signal transduction|lipid catabolic process|phospholipid metabolic process|synaptic transmission cytosol calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(3) 39 all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117) GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508) TCCTCGTCAGGGGGTTTCCCC 0.607000 8 76 0 0 1 0 0 OR8K3 219473 broad.mit.edu 37 11 56086195 56086195 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:56086195G>A ENST00000312711.1 + 1 413 c.413G>A c.(412-414)cGa>cAa p.R138Q NM_001005202.1 NP_001005202.1 Q8NH51 OR8K3_HUMAN olfactory receptor, family 8, subfamily K, member 3 138 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(2)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|ovary(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 40 Esophageal squamous(21;0.00448) ATCATGTCACGAAGGGTATGT 0.418000 50 107 0 0 1 0 0 LGALS9 3965 broad.mit.edu 37 17 25969287 25969287 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:25969287C>T ENST00000395473.2 + 4 1825 c.357C>T c.(355-357)ttC>ttT p.F119F LGALS9_ENST00000302228.5_Silent_p.F119F|LGALS9_ENST00000313648.6_Silent_p.F119F|LGALS9_ENST00000310394.5_Silent_p.F119F|LGALS9_ENST00000413914.2_Silent_p.F62F NM_009587.2 NP_033665.1 O00182 LEG9_HUMAN lectin, galactoside-binding, soluble, 9 119 Galectin 1. positive regulation of I-kappaB kinase/NF-kappaB cascade cytoplasm|extracellular region galactose binding|signal transducer activity endometrium(3)|large_intestine(2)|lung(12)|skin(1) 18 Lung NSC(42;0.0103) BRCA - Breast invasive adenocarcinoma(3;0.0141) UCEC - Uterine corpus endometrioid carcinoma (53;0.155) GGATCCTCTTCGTGCAGTACT 0.607000 7 106 0 0 1 0 0 ALK 238 broad.mit.edu 37 2 29543642 29543642 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:29543642C>T ENST00000389048.3 - 7 2427 c.1521G>A c.(1519-1521)aaG>aaA p.K507K ALK_ENST00000431873.1_Intron NM_004304.4 NP_004295.2 Q9UM73 ALK_HUMAN anaplastic lymphoma receptor tyrosine kinase 507 MAM 2. protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9) NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2) 340 Acute lymphoblastic leukemia(172;0.155) Adenosine triphosphate(DB00171) ACCGGGCATCCTTTAGGGTCC 0.557000 """T, Mis, A""" """NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22""" """ALCL, NSCLC, Neuroblastoma""" neuroblastoma Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome 84 159 0 0 1 0 0 UPF3B 65109 broad.mit.edu 37 X 118979168 118979168 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chrX:118979168G>A ENST00000276201.2 - 4 531 c.462C>T c.(460-462)atC>atT p.I154I UPF3B_ENST00000478840.1_5'UTR|UPF3B_ENST00000345865.2_Silent_p.I154I NM_080632.2 NP_542199.1 Q9BZI7 REN3B_HUMAN UPF3 regulator of nonsense transcripts homolog B (yeast) 154 Necessary for interaction with UPF2.|Sufficient for association with EJC core. mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation|termination of RNA polymerase II transcription cytosol|exon-exon junction complex|nucleoplasm mRNA binding|nucleocytoplasmic transporter activity|nucleotide binding|protein binding breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|prostate(1) 30 TACCATCATCGATAGTCCCGA 0.333000 17 83 0 0 1 0 0 PKM 5315 broad.mit.edu 37 15 72501222 72501222 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr15:72501222G>A ENST00000319622.6 - 6 1032 c.576C>T c.(574-576)ttC>ttT p.F192F PKM_ENST00000449901.2_Silent_p.F177F|PKM_ENST00000568459.1_Silent_p.F192F|PKM_ENST00000389093.3_Silent_p.F192F|PKM_ENST00000335181.5_Silent_p.F192F|PKM_ENST00000565184.1_Silent_p.F192F|PKM_ENST00000565154.1_Silent_p.F192F|PKM_ENST00000568883.1_Intron NM_001206796.1|NM_182470.2|NM_182471.2 NP_001193725.1|NP_872270.1|NP_872271.1 pyruvate kinase, muscle endometrium(1)|lung(7) 8 CCGTCACCAGGAAGTCGGCAC 0.582000 8 31 0 0 1 0 0 TG 7038 broad.mit.edu 37 8 133923728 133923728 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:133923728C>T ENST00000220616.4 + 19 4149 c.4109C>T c.(4108-4110)tCa>tTa p.S1370L TG_ENST00000377869.1_Missense_Mutation_p.S1370L NM_003235.4 NP_003226.4 P01266 THYG_HUMAN thyroglobulin 1370 hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation extracellular space hormone activity NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8) 168 Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735) BRCA - Breast invasive adenocarcinoma(115;0.000701) KIRC - Kidney renal clear cell carcinoma(542;0.0546) ACATGGAAATCACGGCTTGAG 0.478000 53 116 0 0 1 0 0 MCTP2 55784 broad.mit.edu 37 15 94910858 94910858 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr15:94910858C>T ENST00000357742.4 + 10 1326 c.1326C>T c.(1324-1326)ctC>ctT p.L442L MCTP2_ENST00000451018.3_Silent_p.L442L|MCTP2_ENST00000331706.4_Silent_p.L30L|MCTP2_ENST00000557742.1_Silent_p.L30L NM_018349.3 NP_060819.3 Q6DN12 MCTP2_HUMAN multiple C2 domains, transmembrane 2 442 calcium-mediated signaling integral to membrane|membrane fraction calcium ion binding autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2) 49 Lung NSC(78;0.0821)|all_lung(78;0.148) BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593) TCTCGGCACTCCCTCTGAAGC 0.522000 58 125 0 0 1 0 0 ATP1A3 478 broad.mit.edu 37 19 42490318 42490318 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:42490318C>T ENST00000545399.1 - 5 613 c.460G>A c.(460-462)Gag>Aag p.E154K ATP1A3_ENST00000602133.1_Missense_Mutation_p.E111K|ATP1A3_ENST00000543770.1_Missense_Mutation_p.E152K|ATP1A3_ENST00000302102.5_Missense_Mutation_p.E141K NM_001256214.1 NP_001243143.1 P13637 AT1A3_HUMAN ATPase, Na+/K+ transporting, alpha 3 polypeptide 141 ATP biosynthetic process endoplasmic reticulum|Golgi apparatus ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 52 CTCTTGGCCTCCTGGTAGTAG 0.607000 45 137 0 0 1 0 0 FAM221B 392307 broad.mit.edu 37 9 35825991 35825991 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:35825991G>A ENST00000423537.2 - 2 437 c.168C>T c.(166-168)tcC>tcT p.S56S TMEM8B_ENST00000377996.1_Intron NM_001012446.3 NP_001012448.2 A6H8Z2 CI128_HUMAN family with sequence similarity 221, member B 56 endometrium(2)|kidney(1)|lung(4) 7 GCACCAAAGGGGATTCAGAGG 0.547000 OREG0019180 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 11 178 0 0 1 0 0 COL22A1 169044 broad.mit.edu 37 8 139845350 139845350 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:139845350C>T ENST00000303045.6 - 5 1223 c.777G>A c.(775-777)ggG>ggA p.G259G COL22A1_ENST00000435777.1_Silent_p.G259G NM_152888.1 NP_690848.1 Q8NFW1 COMA1_HUMAN collagen, type XXII, alpha 1 259 TSP N-terminal. cell adhesion collagen|cytoplasm structural molecule activity breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4) 211 all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0517) TCTCTCTCTTCCCCAAGATTT 0.473000 HNSCC(7;0.00092) 32 69 0 0 1 0 0 LY9 4063 broad.mit.edu 37 1 160769592 160769592 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:160769592C>T ENST00000263285.5 + 2 204 c.174C>T c.(172-174)atC>atT p.I58I LY9_ENST00000368041.2_Silent_p.I18I|LY9_ENST00000368039.2_Silent_p.I58I|LY9_ENST00000368040.1_5'UTR|LY9_ENST00000341032.4_Silent_p.I58I|LY9_ENST00000471816.1_3'UTR NM_001261456.1|NM_002348.3 NP_001248385.1|NP_002339.2 Q9HBG7 LY9_HUMAN lymphocyte antigen 9 58 Ig-like V-type 1. cell adhesion|immunoglobulin mediated immune response integral to membrane autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 36 all_cancers(52;2.72e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00737) TGTCAGGGATCCTAGGGGGTT 0.522000 57 73 0 0 1 0 0 MAP1B 4131 broad.mit.edu 37 5 71482533 71482533 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:71482533C>T ENST00000296755.7 + 4 760 c.462C>T c.(460-462)tcC>tcT p.S154S NM_005909.3 NP_005900.2 P46821 MAP1B_HUMAN microtubule-associated protein 1B 154 microtubule|microtubule associated complex structural molecule activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 104 Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;7.99e-54) TTCTCCAGTCCGGCTCTTTCT 0.493000 39 97 0 0 1 0 0 UBR5 51366 broad.mit.edu 37 8 103324081 103324081 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:103324081C>T ENST00000520539.1 - 19 2906 c.2300G>A c.(2299-2301)cGa>cAa p.R767Q UBR5_ENST00000220959.4_Missense_Mutation_p.R767Q|UBR5_ENST00000521922.1_Missense_Mutation_p.R761Q NM_015902.5 NP_056986.2 O95071 UBR5_HUMAN ubiquitin protein ligase E3 component n-recognin 5 767 cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus nucleus|soluble fraction protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 124 all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05) OV - Ovarian serous cystadenocarcinoma(57;0.000442) GATACAGTATCGTACCCAATT 0.363000 30 73 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179451268 179451268 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:179451268C>T ENST00000589042.1 - 308 64584 c.64360G>A c.(64360-64362)Gaa>Aaa p.E21454K TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E12514K|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E19813K|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E18886K|TTN_ENST00000460472.2_Missense_Mutation_p.E12389K|TTN_ENST00000342175.6_Missense_Mutation_p.E12581K|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000419746.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 19813 Fibronectin type-III 55. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) CCTTCAGCTTCTCTTGGCAAA 0.378000 49 89 0 0 1 0 0 PPFIA3 8541 broad.mit.edu 37 19 49640086 49640086 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:49640086C>T ENST00000334186.4 + 15 2120 c.1771C>T c.(1771-1773)Ctg>Ttg p.L591L PPFIA3_ENST00000602351.1_Silent_p.L591L NM_003660.2 NP_003651.1 O75145 LIPA3_HUMAN protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 3 591 cell surface|cytoplasm protein binding NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(16)|pancreas(1)|prostate(1)|skin(4)|urinary_tract(1) 35 all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392) all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677) GGCCGAGCTGCTGTCCCCCAG 0.662000 10 9 0 0 1 0 0 MAP3K14 9020 broad.mit.edu 37 17 43347835 43347835 + RNA SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:43347835G>A ENST00000344686.2 - 0 2022 Q99558 M3K14_HUMAN mitogen-activated protein kinase kinase kinase 14 cellular response to mechanical stimulus|I-kappaB kinase/NF-kappaB cascade|immune response|positive regulation of I-kappaB kinase/NF-kappaB cascade|T cell costimulation cytosol ATP binding|MAP kinase kinase kinase activity|NF-kappaB-inducing kinase activity|protein binding breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 27 ACACGCGGTGGATGGGCTCTT 0.662000 11 56 0 0 1 0 0 TLE6 79816 broad.mit.edu 37 19 2989197 2989197 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:2989197C>T ENST00000246112.4 + 12 1080 c.879C>T c.(877-879)gcC>gcT p.A293A TLE6_ENST00000452088.1_Silent_p.A170A|TLE6_ENST00000478073.2_3'UTR NM_001143986.1 NP_001137458.1 Q9H808 TLE6_HUMAN transducin-like enhancer of split 6 (E(sp1) homolog, Drosophila) 170 regulation of transcription, DNA-dependent nucleus breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|urinary_tract(1) 10 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) TCGCCACGGCCATCAGCAGCT 0.622000 20 47 0 0 1 0 0 FAM179A 165186 broad.mit.edu 37 2 29259487 29259487 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:29259487G>A ENST00000379558.4 + 18 2850 c.2499G>A c.(2497-2499)atG>atA p.M833I FAM179A_ENST00000465300.1_3'UTR|FAM179A_ENST00000403861.2_Missense_Mutation_p.M778I NM_199280.2 NP_954974.2 Q6ZUX3 F179A_HUMAN family with sequence similarity 179, member A 833 binding breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 TCGCCAAGATGATCCCCCTCC 0.502000 33 69 0 0 1 0 0 DNAH9 1770 broad.mit.edu 37 17 11711062 11711062 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:11711062C>T ENST00000262442.3 + 44 8502 c.8434C>T c.(8434-8436)Cgc>Tgc p.R2812C DNAH9_ENST00000454412.2_Missense_Mutation_p.R2812C NM_001372.3 NP_001363.2 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 2812 AAA 4 (By similarity). cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4) 290 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) CCATATCAATCGCATCTTGGA 0.537000 43 68 0 0 1 0 0 GLIS3 169792 broad.mit.edu 37 9 4118592 4118592 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:4118592C>T ENST00000324333.10 - 3 614 c.421G>A c.(421-423)Gcc>Acc p.A141T GLIS3_ENST00000381971.3_Missense_Mutation_p.A296T NM_152629.3 NP_689842.3 Q8NEA6 GLIS3_HUMAN GLIS family zinc finger 3 141 Ser-rich. negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter DNA binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(12)|lung(4)|ovary(2)|prostate(1)|skin(1) 26 Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148) Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148) TTGGAGCGGGCCGAGTGGGAC 0.557000 17 79 0 0 1 0 0 RHO 6010 broad.mit.edu 37 3 129249750 129249750 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:129249750G>A ENST00000296271.3 + 2 487 c.393G>A c.(391-393)ctG>ctA p.L131L NM_000539.3 NP_000530.1 P08100 OPSD_HUMAN rhodopsin 131 L -> P (in RP4). protein-chromophore linkage|rhodopsin mediated signaling pathway Golgi apparatus|integral to plasma membrane|photoreceptor inner segment membrane|photoreceptor outer segment membrane G-protein coupled receptor activity|metal ion binding|photoreceptor activity|protein binding breast(1)|endometrium(1)|large_intestine(10)|lung(6)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 22 all_neural(597;0.0227)|Myeloproliferative disorder(1037;0.0255)|Prostate(884;0.183) GBM - Glioblastoma multiforme(114;2.58e-05)|Lung(219;0.0234) Halothane(DB01159) TGGTGGTCCTGGCCATCGAGC 0.612000 104 210 0 0 1 0 0 ACOX2 8309 broad.mit.edu 37 3 58520676 58520676 + Missense_Mutation SNP A A G TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:58520676A>G ENST00000302819.5 - 2 449 c.158T>C c.(157-159)gTt>gCt p.V53A ACOX2_ENST00000459701.2_Missense_Mutation_p.V53A NM_003500.3 NP_003491.1 Q99424 ACOX2_HUMAN acyl-CoA oxidase 2, branched chain 53 bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase peroxisomal matrix 3alpha,7alpha,12alpha-trihydroxy-5beta-cholestanoyl-CoA 24-hydroxylase activity|acyl-CoA dehydrogenase activity|pristanoyl-CoA oxidase activity breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(3)|urinary_tract(1) 25 BRCA - Breast invasive adenocarcinoma(55;0.000194)|Kidney(10;0.00255)|KIRC - Kidney renal clear cell carcinoma(10;0.00268)|OV - Ovarian serous cystadenocarcinoma(275;0.156) CCCCTTACCAACTTTCCTGCG 0.493000 13 325 0 0 1 0 0 CELSR3 1951 broad.mit.edu 37 3 48696507 48696507 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:48696507G>A ENST00000544264.1 - 1 3841 c.3561C>T c.(3559-3561)ttC>ttT p.F1187F CELSR3_ENST00000164024.4_Silent_p.F1187F Q9NYQ7 CELR3_HUMAN cadherin, EGF LAG seven-pass G-type receptor 3 1187 Cadherin 9. homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity|protein binding NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 83 BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619) TGCCCGACGGGAAGGTGTCTG 0.542000 42 102 0 0 1 0 0 KIF6 221458 broad.mit.edu 37 6 39328184 39328184 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:39328184G>A ENST00000287152.7 - 18 2163 c.2069C>T c.(2068-2070)gCc>gTc p.A690V KIF6_ENST00000541946.1_Missense_Mutation_p.A141V|KIF6_ENST00000373215.3_Missense_Mutation_p.A673V|KIF6_ENST00000373216.3_Missense_Mutation_p.A690V|KIF6_ENST00000394362.1_Missense_Mutation_p.A141V|KIF6_ENST00000373213.4_Missense_Mutation_p.A529V|KIF6_ENST00000229913.5_Missense_Mutation_p.A141V|KIF6_ENST00000538893.1_Missense_Mutation_p.A634V NM_145027.4 NP_659464.3 Q6ZMV9 KIF6_HUMAN kinesin family member 6 690 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity|protein binding breast(2)|central_nervous_system(1)|endometrium(1)|kidney(16)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 52 CAGGTTGGTGGCCTCCTCTGC 0.582000 114 110 0 0 1 0 0 DUOX2 50506 broad.mit.edu 37 15 45387203 45387203 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr15:45387203C>T ENST00000389039.6 - 32 4711 c.4326G>A c.(4324-4326)caG>caA p.Q1442Q DUOX2_ENST00000603300.1_Silent_p.Q1442Q Q9NRD8 DUOX2_HUMAN dual oxidase 2 1442 cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus apical plasma membrane|integral to membrane calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1) 63 all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027) all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068) ACACCAGGTCCTGGTGGTCGT 0.572000 4 100 0 0 1 0 0 OR5P2 120065 broad.mit.edu 37 11 7817616 7817616 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:7817616C>T ENST00000329434.2 - 1 904 c.874G>A c.(874-876)Gag>Aag p.E292K RP11-35J10.5_ENST00000527565.1_lincRNA NM_153444.1 NP_703145.1 Q8WZ92 OR5P2_HUMAN olfactory receptor, family 5, subfamily P, member 2 292 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4) 22 Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189) CCCTTAATCTCCTTGTTCCTG 0.403000 10 98 0 0 1 0 0 ADAMTS12 81792 broad.mit.edu 37 5 33642029 33642029 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:33642029C>T ENST00000504830.1 - 11 1939 c.1604G>A c.(1603-1605)gGg>gAg p.G535E ADAMTS12_ENST00000504582.1_5'UTR|ADAMTS12_ENST00000352040.3_Missense_Mutation_p.G535E NM_030955.2 NP_112217.2 P58397 ATS12_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 12 535 Disintegrin. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5) 216 TGGTTTCTTCCCCACTGTGAT 0.602000 HNSCC(64;0.19) 4 87 0 0 1 0 0 OR51S1 119692 broad.mit.edu 37 11 4869859 4869859 + Missense_Mutation SNP G G A rs142743963 byFrequency TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:4869859G>A ENST00000322101.2 - 1 655 c.580C>T c.(580-582)Cgt>Tgt p.R194C MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron NM_001004758.1 NP_001004758.1 Q8NGJ8 O51S1_HUMAN olfactory receptor, family 51, subfamily S, member 1 194 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.R194C(2) endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 33 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19) CAGGCCAAACGAGCCACATCT 0.552000 62 49 0 0 1 0 0 LAMC1 3915 broad.mit.edu 37 1 183085729 183085729 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:183085729C>T ENST00000258341.4 + 7 1603 c.1346C>T c.(1345-1347)cCc>cTc p.P449L NM_002293.3 NP_002284.3 P11047 LAMC1_HUMAN laminin, gamma 1 (formerly LAMB2) 449 Laminin EGF-like 4. axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex extracellular matrix structural constituent NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3) 76 Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) TCTTGTGATCCCTCTGGCAGC 0.378000 49 64 0 0 1 0 0 GHSR 2693 broad.mit.edu 37 3 172163164 172163164 + Missense_Mutation SNP C C A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:172163164C>A ENST00000241256.2 - 2 930 c.888G>T c.(886-888)gaG>gaT p.E296D NM_198407.2 NP_940799.1 Q92847 GHSR_HUMAN growth hormone secretagogue receptor 296 actin polymerization or depolymerization|adult feeding behavior|decidualization|growth hormone secretion|hormone-mediated signaling pathway|negative regulation of inflammatory response|negative regulation of interleukin-1 beta production|negative regulation of interleukin-6 biosynthetic process|negative regulation of tumor necrosis factor biosynthetic process|positive regulation of appetite|positive regulation of multicellular organism growth cell surface|integral to membrane|membrane raft|neuron projection|plasma membrane growth hormone secretagogue receptor activity|growth hormone-releasing hormone receptor activity biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1) 33 Ovarian(172;0.00143)|Breast(254;0.197) Lung(28;3.93e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235) TCTGAGCAATCTCCAAGGAGC 0.488000 5 98 0.0215528 0.0215711 1 1 0 WDFY1 57590 broad.mit.edu 37 2 224770686 224770686 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:224770686C>T ENST00000233055.4 - 4 414 c.312G>A c.(310-312)atG>atA p.M104I NM_020830.3 NP_065881.1 Q8IWB7 WDFY1_HUMAN WD repeat and FYVE domain containing 1 104 cytosol|early endosome|nucleus 1-phosphatidylinositol binding|zinc ion binding NS(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(6)|prostate(2) 18 all_lung(227;0.00682)|Lung NSC(271;0.00859)|Renal(207;0.0112)|all_hematologic(139;0.189) Epithelial(121;5.34e-10)|all cancers(144;1.67e-07)|Lung(261;0.00807)|LUSC - Lung squamous cell carcinoma(224;0.00843) TGATAAAGTTCATTTTATTAA 0.279000 10 21 0 0 1 0 0 PFKP 5214 broad.mit.edu 37 10 3176770 3176770 + Silent SNP C C T rs145386347 TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:3176770C>T ENST00000381075.2 + 22 2318 c.2094C>T c.(2092-2094)ggC>ggT p.G698G PFKP_ENST00000381072.1_Silent_p.G124G|PFKP_ENST00000381125.4_Silent_p.G706G NM_001242339.1 NP_001229268.1 Q01813 K6PP_HUMAN phosphofructokinase, platelet 706 glycolysis 6-phosphofructokinase complex 6-phosphofructokinase activity|ATP binding|metal ion binding|protein binding breast(2)|central_nervous_system(4)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 31 GBM - Glioblastoma multiforme(1;0.000975)|all cancers(11;0.00351)|Epithelial(11;0.142) AGGCCCGGGGCAGAGGTAAGG 0.562000 7 190 0 0 1 0 0 BAHD1 22893 broad.mit.edu 37 15 40750686 40750686 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr15:40750686C>T ENST00000561234.1 + 2 282 c.23C>T c.(22-24)tCc>tTc p.S8F BAHD1_ENST00000560846.1_Missense_Mutation_p.S8F|BAHD1_ENST00000416165.1_Missense_Mutation_p.S8F Q8TBE0 BAHD1_HUMAN bromo adjacent homology domain containing 1 8 heterochromatin formation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent chromatin silencing complex|chromosome chromatin binding|DNA binding|protein binding NS(1)|endometrium(6)|kidney(3)|large_intestine(3)|lung(10)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1) 28 all_cancers(109;8.28e-19)|all_epithelial(112;2.64e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117) GBM - Glioblastoma multiforme(113;3.46e-06)|BRCA - Breast invasive adenocarcinoma(123;0.08) CGGAGAAAGTCCCTTCCCATG 0.597000 14 216 0 0 1 0 0 ASB10 136371 broad.mit.edu 37 7 150878052 150878052 + Missense_Mutation SNP G G A rs104886484 TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:150878052G>A ENST00000422024.1 - 3 1338 c.1213C>T c.(1213-1215)Cgt>Tgt p.R405C ASB10_ENST00000275838.1_Missense_Mutation_p.R360C|ASB10_ENST00000434669.1_Missense_Mutation_p.R405C|ASB10_ENST00000420175.2_Missense_Mutation_p.R360C|ASB10_ENST00000377867.3_Missense_Mutation_p.R345C NM_001142459.1 NP_001135931.2 Q8WXI3 ASB10_HUMAN ankyrin repeat and SOCS box containing 10 360 intracellular signal transduction NS(1)|endometrium(2)|lung(7)|skin(2) 12 OV - Ovarian serous cystadenocarcinoma(82;0.00448) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) GGCCAGACACGGACGGCGCCA 0.701000 7 31 0 0 1 0 0 OR5H6 79295 broad.mit.edu 37 3 97983342 97983342 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:97983342C>T ENST00000383696.2 + 1 255 c.214C>T c.(214-216)Cat>Tat p.H72Y RP11-325B23.2_ENST00000508616.1_lincRNA NM_001005479.1 NP_001005479.1 Q8NGV6 OR5H6_HUMAN olfactory receptor, family 5, subfamily H, member 6 (gene/pseudogene) 72 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(2)|endometrium(1)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 34 CCCTCACCTTCATATCCCAAT 0.423000 103 276 0 0 1 0 0 MORN1 79906 broad.mit.edu 37 1 2267928 2267928 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:2267928C>T ENST00000378531.3 - 12 1403 c.1230G>A c.(1228-1230)caG>caA p.Q410Q MORN1_ENST00000606372.1_5'UTR NM_024848.1 NP_079124.1 Q5T089 MORN1_HUMAN MORN repeat containing 1 410 breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(1)|ovary(2) 9 all_cancers(77;0.000194)|all_epithelial(69;9.96e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634) all_epithelial(116;3.3e-15)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217) Epithelial(90;2.21e-37)|OV - Ovarian serous cystadenocarcinoma(86;5.01e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.00137)|BRCA - Breast invasive adenocarcinoma(365;0.00488)|STAD - Stomach adenocarcinoma(132;0.00665)|KIRC - Kidney renal clear cell carcinoma(229;0.0203)|Lung(427;0.212) CAGGAGGCTCCTGTGCCGTGG 0.657000 24 38 0 0 1 0 0 DNAH8 1769 broad.mit.edu 37 6 38805730 38805730 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:38805730G>A ENST00000359357.3 + 31 3981 c.3727G>A c.(3727-3729)Gat>Aat p.D1243N DNAH8_ENST00000441566.1_Missense_Mutation_p.D1243N|DNAH8_ENST00000449981.2_Missense_Mutation_p.D1460N dynein, axonemal, heavy chain 8 NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4) 260 CAGTTTCGATGATCTGTGGAG 0.323000 24 79 0 0 1 0 0 OR5K1 26339 broad.mit.edu 37 3 98189267 98189267 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:98189267C>T ENST00000332650.5 + 1 944 c.847C>T c.(847-849)Ccc>Tcc p.P283S NM_001004736.2 NP_001004736.2 Q8NHB7 OR5K1_HUMAN olfactory receptor, family 5, subfamily K, member 1 283 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(1)|large_intestine(4)|lung(21)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 AATAGTAGTTCCCTTACTAAA 0.308000 30 74 0 0 1 0 0 CRYBB2 1415 broad.mit.edu 37 22 25627666 25627666 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr22:25627666C>T ENST00000398215.2 + 6 716 c.545C>T c.(544-546)cCc>cTc p.P182L NM_000496.2 NP_000487.1 P43320 CRBB2_HUMAN crystallin, beta B2 182 Beta/gamma crystallin 'Greek key' 4. response to stimulus|visual perception structural constituent of eye lens endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1) 10 GCCCCTCACCCCCAGGTGCAG 0.642000 64 181 0 0 1 0 0 TBC1D14 57533 broad.mit.edu 37 4 7026944 7026944 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:7026944C>T ENST00000409757.4 + 13 2095 c.1971C>T c.(1969-1971)tcC>tcT p.S657S TBC1D14_ENST00000410031.1_Silent_p.S429S|TBC1D14_ENST00000451522.2_Silent_p.S377S|TBC1D14_ENST00000446947.2_Silent_p.S304S|TBC1D14_ENST00000448507.1_Silent_p.S657S NM_020773.2 NP_065824.2 Q9P2M4 TBC14_HUMAN TBC1 domain family, member 14 657 intracellular Rab GTPase activator activity breast(1)|endometrium(5)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 22 TGTTTGCCTCCATCGCCACGA 0.607000 30 61 0 0 1 0 0 FMNL2 114793 broad.mit.edu 37 2 153482066 153482066 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:153482066G>A ENST00000288670.9 + 16 2319 c.1952G>A c.(1951-1953)cGa>cAa p.R651Q FMNL2_ENST00000497192.1_3'UTR|FMNL2_ENST00000475377.2_Missense_Mutation_p.R26Q NM_052905.3 NP_443137.2 Q96PY5 FMNL2_HUMAN formin-like 2 651 FH2. actin cytoskeleton organization cytoplasm actin binding|Rho GTPase binding p.R651Q(1) central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(2)|lung(3)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 23 GATGATGAGCGAATTCTGGAG 0.438000 23 56 0 0 1 0 0 PTPRT 11122 broad.mit.edu 37 20 41306519 41306519 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr20:41306519C>T ENST00000373198.3 - 7 1375 c.1140G>A c.(1138-1140)agG>agA p.R380R PTPRT_ENST00000373190.1_Silent_p.R380R|PTPRT_ENST00000373193.3_Silent_p.R380R|PTPRT_ENST00000373201.1_Silent_p.R380R|PTPRT_ENST00000373184.1_Silent_p.R380R|PTPRT_ENST00000373187.1_Silent_p.R380R|PTPRT_ENST00000356100.2_Silent_p.R380R NM_133170.3 NP_573400.3 O14522 PTPRT_HUMAN protein tyrosine phosphatase, receptor type, T 380 homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway cell surface|integral to membrane|plasma membrane alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 176 Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783) CACACTTGGTCCTGGTGGTGA 0.547000 39 84 0 0 1 0 0 EGFR 1956 broad.mit.edu 37 7 55249046 55249046 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:55249046C>T ENST00000275493.2 + 20 2521 c.2344C>T c.(2344-2346)Ctc>Ttc p.L782F EGFR_ENST00000455089.1_Missense_Mutation_p.L737F|EGFR_ENST00000442591.1_Intron|EGFR-AS1_ENST00000442411.1_RNA|EGFR_ENST00000454757.2_Missense_Mutation_p.L729F NM_005228.3 NP_005219.2 P00533 EGFR_HUMAN epidermal growth factor receptor 782 Protein kinase. activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6) 14110 all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318) GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607) Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072) GGGCATCTGCCTCACCTCCAC 0.617000 8 """A, O, Mis""" """glioma, NSCLC""" NSCLC Lung Cancer, Familial Clustering of TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08) 54 113 0 0 1 0 0 NPNT 255743 broad.mit.edu 37 4 106863463 106863463 + Splice_Site SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:106863463G>A ENST00000379987.2 + 8 979 c.e8-1 NPNT_ENST00000453617.2_Splice_Site|NPNT_ENST00000427316.2_Splice_Site|NPNT_ENST00000305572.8_Splice_Site|NPNT_ENST00000514622.1_Splice_Site|NPNT_ENST00000506666.1_Splice_Site NM_001033047.2 NP_001028219.1 Q6UXI9 NPNT_HUMAN nephronectin cell differentiation membrane calcium ion binding kidney(5)|large_intestine(2)|lung(10)|prostate(2)|skin(1)|urinary_tract(1) 21 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;5.41e-07) GACTCTTTCAGATATCCCAAA 0.353000 21 49 0 0 1 0 0 AK7 122481 broad.mit.edu 37 14 96949477 96949477 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr14:96949477G>A ENST00000267584.4 + 16 1939 c.1895G>A c.(1894-1896)aGg>aAg p.R632K NM_152327.3 NP_689540.2 Q96M32 KAD7_HUMAN adenylate kinase 7 632 Glu-rich. cell projection organization cytosol adenylate kinase activity|ATP binding|cytidylate kinase activity breast(2)|cervix(2)|endometrium(3)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1) 31 all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155) Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228) CGGCTGGCCAGGGAGGCTGCT 0.562000 4 49 0 0 1 0 0 ZFHX4 79776 broad.mit.edu 37 8 77616586 77616586 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:77616586C>T ENST00000521891.2 + 2 711 c.263C>T c.(262-264)tCt>tTt p.S88F ZFHX4_ENST00000455469.2_Missense_Mutation_p.S88F|ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000050961.6_Missense_Mutation_p.S88F|ZFHX4_ENST00000518282.1_Missense_Mutation_p.S88F NM_024721.4 NP_078997.4 Q86UP3 ZFHX4_HUMAN zinc finger homeobox 4 88 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6) 432 BRCA - Breast invasive adenocarcinoma(89;0.0895) TGTGCCACTTCTTTTCCCAGT 0.512000 HNSCC(33;0.089) 111 200 0 0 1 0 0 SLC4A7 9497 broad.mit.edu 37 3 27436029 27436029 + Missense_Mutation SNP A A G TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:27436029A>G ENST00000295736.5 - 20 3140 c.3070T>C c.(3070-3072)Ttc>Ctc p.F1024L SLC4A7_ENST00000428386.1_Missense_Mutation_p.F900L|SLC4A7_ENST00000454389.1_Missense_Mutation_p.F1033L|SLC4A7_ENST00000446700.1_Missense_Mutation_p.F1016L|SLC4A7_ENST00000425128.2_3'UTR|SLC4A7_ENST00000455077.1_Missense_Mutation_p.F905L|SLC4A7_ENST00000388777.4_Missense_Mutation_p.F574L|SLC4A7_ENST00000435667.2_Missense_Mutation_p.F909L|SLC4A7_ENST00000440156.1_Missense_Mutation_p.F1020L|SLC4A7_ENST00000437179.1_Missense_Mutation_p.F905L|SLC4A7_ENST00000445684.1_Missense_Mutation_p.F1020L NM_003615.4 NP_003606.3 Q9Y6M7 S4A7_HUMAN solute carrier family 4, sodium bicarbonate cotransporter, member 7 1024 apical plasma membrane|basolateral plasma membrane|integral to membrane|stereocilium inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(9)|ovary(4)|skin(1) 38 GAAGTCATGAACACAGAGAGG 0.348000 44 77 0 0 1 0 0 PIK3CG 5294 broad.mit.edu 37 7 106509660 106509660 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:106509660C>T ENST00000359195.3 + 2 1964 c.1654C>T c.(1654-1656)Cgc>Tgc p.R552C PIK3CG_ENST00000496166.1_Missense_Mutation_p.R552C|PIK3CG_ENST00000440650.2_Missense_Mutation_p.R552C NM_002649.2 NP_002640.2 P48736 PK3CG_HUMAN phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma 552 G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding p.R552C(1) breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 132 CAACCAGCTTCGCAAGCAATT 0.527000 50 118 0 0 1 0 0 RHOT1 55288 broad.mit.edu 37 17 30521121 30521121 + Silent SNP C C T rs111248500 TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:30521121C>T ENST00000358365.3 + 11 1091 c.864C>T c.(862-864)ttC>ttT p.F288F RHOT1_ENST00000354266.3_Silent_p.F267F|RHOT1_ENST00000581094.1_Silent_p.F288F|RHOT1_ENST00000583994.1_Silent_p.F161F|RHOT1_ENST00000333942.6_Silent_p.F288F|RHOT1_ENST00000580976.1_3'UTR|RHOT1_ENST00000545287.2_Silent_p.F288F|RHOT1_ENST00000394692.2_Silent_p.F288F NM_001033568.1 NP_001028740.1 Q8IXI2 MIRO1_HUMAN ras homolog family member T1 288 apoptosis|cellular homeostasis|mitochondrion transport along microtubule|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|integral to mitochondrial outer membrane|plasma membrane calcium ion binding|GTP binding|GTPase activity|protein binding NS(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 28 Myeloproliferative disorder(56;0.0255)|Breast(31;0.116)|Ovarian(249;0.182) AATATTTGTTCCCCCTGTATG 0.398000 13 624 0 0 1 0 0 MGAT5 4249 broad.mit.edu 37 2 135027970 135027970 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:135027970C>T ENST00000409645.1 + 3 507 c.255C>T c.(253-255)acC>acT p.T85T MGAT5_ENST00000281923.2_Silent_p.T85T Q09328 MGT5A_HUMAN mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase 85 post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|pancreas(1)|skin(3) 36 BRCA - Breast invasive adenocarcinoma(221;0.0964) TGAAGAAAACCCTTGCTGTGT 0.403000 23 76 0 0 1 0 0 NRXN1 9378 broad.mit.edu 37 2 50464068 50464068 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:50464068G>A ENST00000404971.1 - 19 4864 c.3525C>T c.(3523-3525)atC>atT p.I1175I NRXN1_ENST00000405472.3_Silent_p.I1127I|NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000406859.3_Silent_p.I1135I|NRXN1_ENST00000406316.2_Silent_p.I1135I|NRXN1_ENST00000342183.5_Silent_p.I100I|NRXN1_ENST00000401669.2_Silent_p.I1135I|NRXN1_ENST00000402717.3_Silent_p.I1127I|NRXN1_ENST00000401710.1_Silent_p.I153I NM_001135659.1 NP_001129131.1 Q9ULB1 NRX1A_HUMAN neurexin 1 1135 Laminin G-like 6. adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition cell surface|integral to plasma membrane metal ion binding|protein binding|receptor activity breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 58 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192) Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116) ACTTATACGTGATTTGTCCAC 0.453000 46 65 0 0 1 0 0 ADRA1A 148 broad.mit.edu 37 8 26627705 26627705 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:26627705G>A ENST00000380573.3 - 3 2385 c.1362C>T c.(1360-1362)gtC>gtT p.V454V ADRA1A_ENST00000380581.2_Intron|ADRA1A_ENST00000354550.4_Intron|ADRA1A_ENST00000519229.1_Intron|ADRA1A_ENST00000380582.3_Intron|ADRA1A_ENST00000276393.4_Silent_p.V454V|ADRA1A_ENST00000380586.1_Intron|ADRA1A_ENST00000380587.1_Intron P35348 ADA1A_HUMAN adrenoceptor alpha 1A 454 activation of phospholipase C activity|aging|apoptosis|calcium ion transport into cytosol|cell-cell signaling|intracellular protein kinase cascade|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of synaptic transmission, GABAergic|positive regulation of action potential|positive regulation of cardiac muscle contraction|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase C signaling cascade|positive regulation of vasoconstriction|response to drug|response to hormone stimulus|response to stress|smooth muscle contraction integral to plasma membrane alpha1-adrenergic receptor activity breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|skin(1) 36 all_cancers(63;0.122)|Ovarian(32;2.61e-05)|all_epithelial(46;0.118) UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;4.92e-10)|Colorectal(74;0.0132)|READ - Rectum adenocarcinoma(644;0.115) Alfuzosin(DB00346)|Amiodarone(DB01118)|Amphetamine(DB00182)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Carvedilol(DB01136)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Epinastine(DB00751)|Epinephrine(DB00668)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Maprotiline(DB00934)|Mephentermine(DB01365)|Metaraminol(DB00610)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Nefazodone(DB01149)|Nicergoline(DB00699)|Nilutamide(DB00665)|Norepinephrine(DB00368)|Norgestrel(DB00506)|Oxymetazoline(DB00935)|Perphenazine(DB00850)|Phendimetrazine(DB01579)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Prazosin(DB00457)|Promazine(DB00420)|Promethazine(DB01069)|Propericiazine(DB01608)|Propiomazine(DB00777)|Pseudoephedrine(DB00852)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Thioridazine(DB00679)|Tolazoline(DB00797)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Ziprasidone(DB00246) AGATGGTGTGGACCTTAATGG 0.527000 102 217 0 0 1 0 0 PDGFC 56034 broad.mit.edu 37 4 157732062 157732062 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:157732062C>T ENST00000502773.1 - 3 912 c.422G>A c.(421-423)aGg>aAg p.R141K PDGFC_ENST00000422544.2_Missense_Mutation_p.R141K|PDGFC_ENST00000541126.1_5'UTR|PDGFC_ENST00000542208.1_Intron NM_016205.2 NP_057289.1 Q9NRA1 PDGFC_HUMAN platelet derived growth factor C 141 CUB. central nervous system development|platelet-derived growth factor receptor signaling pathway|positive regulation of cell division|positive regulation of DNA replication|positive regulation of fibroblast proliferation|vascular endothelial growth factor receptor signaling pathway endoplasmic reticulum lumen|extracellular space|Golgi membrane|nucleus cell surface binding|growth factor activity|platelet-derived growth factor receptor binding|protein homodimerization activity central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 19 all_hematologic(180;0.24) Renal(120;0.0458) KIRC - Kidney renal clear cell carcinoma(143;0.08)|Kidney(143;0.0977)|COAD - Colon adenocarcinoma(41;0.212) AAATCTTATCCTAATTTGATT 0.398000 24 57 0 0 1 0 0 SYNJ2 8871 broad.mit.edu 37 6 158449941 158449941 + Missense_Mutation SNP T T A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:158449941T>A ENST00000355585.4 + 3 443 c.368T>A c.(367-369)aTc>aAc p.I123N SYNJ2_ENST00000367121.3_Missense_Mutation_p.I123N|SYNJ2_ENST00000449859.2_Missense_Mutation_p.I72N|SYNJ2_ENST00000367122.2_Missense_Mutation_p.I123N NM_001178088.1|NM_003898.3 NP_001171559.1|NP_003889.1 O15056 SYNJ2_HUMAN synaptojanin 2 123 SAC. nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 46 OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05) TTGAAGAAAATCCTCAGCTCG 0.502000 28 47 0 0 1 0 0 FARSB 10056 broad.mit.edu 37 2 223484396 223484396 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:223484396G>A ENST00000281828.6 - 14 1575 c.1312C>T c.(1312-1314)Cac>Tac p.H438Y FARSB_ENST00000536361.1_Missense_Mutation_p.H339Y NM_005687.3 NP_005678.3 Q9NSD9 SYFB_HUMAN phenylalanyl-tRNA synthetase, beta subunit 438 phenylalanyl-tRNA aminoacylation cytosol|soluble fraction ATP binding|magnesium ion binding|phenylalanine-tRNA ligase activity|RNA binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 24 Renal(207;0.0183) Epithelial(121;3.47e-10)|all cancers(144;1.86e-07)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.011) L-Phenylalanine(DB00120) TTACTTATGTGGACTGCCTTT 0.358000 15 36 0 0 1 0 0 PMM1 5372 broad.mit.edu 37 22 41974873 41974873 + Missense_Mutation SNP G G A rs141701895 TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr22:41974873G>A ENST00000216259.7 - 6 571 c.487C>T c.(487-489)Cgg>Tgg p.R163W NM_002676.2 NP_002667.2 Q92871 PMM1_HUMAN phosphomannomutase 1 163 dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine cytosol metal ion binding|phosphomannomutase activity NS(1)|large_intestine(4)|lung(3)|ovary(1)|urinary_tract(2) 11 AACTTCTCCCGGATCTTCTCT 0.607000 12 31 0 0 1 0 0 NXF4 55999 broad.mit.edu 37 X 101818231 101818231 + RNA SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chrX:101818231G>A ENST00000360035.2 + 0 821 NR_002216.1 endometrium(2)|lung(8) 10 CAATTCTAGGGCAAGTAGGGG 0.552000 57 26 0 0 1 0 0 TCL6 27004 broad.mit.edu 37 14 96136873 96136873 + RNA SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr14:96136873C>T ENST00000467865.1 + 0 1983 RP11-1070N10.6_ENST00000461160.1_RNA large_intestine(1)|lung(7) 8 all_cancers(154;0.103) Epithelial(152;0.0655)|all cancers(159;0.149)|BRCA - Breast invasive adenocarcinoma(234;0.206)|COAD - Colon adenocarcinoma(157;0.207) CTTCCTTCTCCTTCTTGGAGT 0.517000 T TRA@ T-ALL 32 50 0 0 1 0 0 ITGA2 3673 broad.mit.edu 37 5 52344192 52344192 + Splice_Site SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:52344192G>A ENST00000296585.5 + 5 530 c.e5-1 NM_002203.3 NP_002194.2 P17301 ITA2_HUMAN integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor) axon guidance|blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|organ morphogenesis integrin complex collagen binding|identical protein binding|receptor activity breast(3)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(1)|lung(18)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 47 Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181) TTTCTTTGAAGACATGTGGTC 0.418000 24 41 0 0 1 0 0 PTPRK 5796 broad.mit.edu 37 6 128327179 128327179 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:128327179G>A ENST00000368207.3 - 15 2579 c.2355C>T c.(2353-2355)tcC>tcT p.S785S PTPRK_ENST00000368226.4_Intron|PTPRK_ENST00000368210.3_Intron|PTPRK_ENST00000368213.5_Intron|PTPRK_ENST00000532331.1_Intron|PTPRK_ENST00000524481.1_5'UTR|PTPRK_ENST00000368215.3_Intron|PTPRK_ENST00000368227.3_Intron Q15262 PTPRK_HUMAN protein tyrosine phosphatase, receptor type, K 777 cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity PTPRK/RSPO3(10) autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 72 all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24) ACAGGTAGTAGGAGTAAGAAT 0.393000 9 11 0 0 1 0 0 RPS14 6208 broad.mit.edu 37 5 149823899 149823899 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:149823899G>A ENST00000401695.3 - 5 452 c.406C>T c.(406-408)Ccc>Tcc p.P136S RPS14_ENST00000312037.5_Missense_Mutation_p.P136S|RPS14_ENST00000407193.1_Missense_Mutation_p.P136S P62263 RS14_HUMAN ribosomal protein S14 136 endocrine pancreas development|erythrocyte differentiation|maturation of SSU-rRNA|negative regulation of transcription from RNA polymerase II promoter|ribosomal small subunit assembly|translational elongation|translational termination|viral transcription cytosolic small ribosomal subunit|nucleolus mRNA 5'-UTR binding|protein binding|structural constituent of ribosome|translation regulator activity central_nervous_system(1)|lung(1)|skin(1) 3 all_hematologic(541;0.224) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) CTGTCAGAGGGGATGGGGGTG 0.532000 44 58 0 0 1 0 0 KMT2C 58508 broad.mit.edu 37 7 151949087 151949087 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:151949087G>A ENST00000355193.2 - 11 1776 c.1558C>T c.(1558-1560)Ctg>Ttg p.L520L KMT2C_ENST00000262189.6_Silent_p.L520L lysine (K)-specific methyltransferase 2C TCAGCTCCCAGGTGTTTACAA 0.398000 27 78 0 0 1 0 0 MYH6 4624 broad.mit.edu 37 14 23862667 23862667 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr14:23862667C>T ENST00000405093.3 - 23 3059 c.2989G>A c.(2989-2991)Gag>Aag p.E997K MYH6_ENST00000356287.3_Missense_Mutation_p.E997K NM_002471.3 NP_002462.2 P13533 MYH6_HUMAN myosin, heavy chain 6, cardiac muscle, alpha 997 adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 119 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441) GCTTTCTTCTCCTTGGTCAGC 0.512000 71 162 0 0 1 0 0 HLA-DQB2 3120 broad.mit.edu 37 6 32726822 32726822 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:32726822G>A ENST00000435145.2 - 3 512 c.451C>T c.(451-453)Cca>Tca p.P151S HLA-DQB2_ENST00000411527.1_Missense_Mutation_p.P151S|HLA-DQB2_ENST00000437316.2_Missense_Mutation_p.P151S Q5SR06 Q5SR06_HUMAN major histocompatibility complex, class II, DQ beta 2 151 antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|immune response integral to membrane|MHC class II protein complex endometrium(1)|kidney(1)|lung(1)|prostate(2) 5 ATCTGGGCTGGATAGAAATCT 0.562000 27 166 0 0 1 0 0 GCM1 8521 broad.mit.edu 37 6 52993581 52993581 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:52993581C>T ENST00000259803.7 - 6 945 c.734G>A c.(733-735)gGa>gAa p.G245E NM_003643.3 NP_003634.2 Q9NP62 GCM1_HUMAN glial cells missing homolog 1 (Drosophila) 245 transcription factor complex DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|skin(1) 24 Lung NSC(77;0.0755) TGTGATTCCTCCCAGACCATA 0.453000 24 97 0 0 1 0 0 MS4A1 931 broad.mit.edu 37 11 60233462 60233462 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:60233462C>T ENST00000534668.1 + 5 694 c.405C>T c.(403-405)atC>atT p.I135I MS4A1_ENST00000389939.2_Silent_p.I135I|MS4A1_ENST00000528313.1_Intron|MS4A1_ENST00000345732.4_Silent_p.I135I|MS4A1_ENST00000532073.1_Silent_p.I135I NM_152866.2 NP_690605.1 P11836 CD20_HUMAN membrane-spanning 4-domains, subfamily A, member 1 135 B cell activation|immune response integral to plasma membrane endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 Ibritumomab(DB00078)|Rituximab(DB00073)|Tositumomab(DB00081) TTCTTTCAATCATGGACATAC 0.308000 32 62 0 0 1 0 0 SPANXN1 494118 broad.mit.edu 37 X 144329107 144329107 + Translation_Start_Site SNP A A T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chrX:144329107A>T ENST00000370493.3 + 1 760 c.1A>T c.(1-3)Atg>Ttg p.M1L NM_001009614.2 NP_001009614.1 Q5VSR9 SPXN1_HUMAN SPANX family, member N1 1 endometrium(2)|kidney(2)|lung(8)|prostate(1)|urinary_tract(1) 14 Acute lymphoblastic leukemia(192;6.56e-05) AACCAGAATCATGGAACAGCC 0.458000 96 45 0 0 1 0 0 ADAM28 10863 broad.mit.edu 37 8 24181423 24181423 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:24181423C>T ENST00000265769.4 + 9 907 c.797C>T c.(796-798)aCc>aTc p.T266I ADAM28_ENST00000437154.2_Missense_Mutation_p.T266I|ADAM28_ENST00000540823.1_Missense_Mutation_p.T33I|RP11-624C23.1_ENST00000519689.1_RNA|ADAM28_ENST00000397649.3_Missense_Mutation_p.T13I|RP11-624C23.1_ENST00000523700.1_RNA|ADAM28_ENST00000518516.1_3'UTR|RP11-624C23.1_ENST00000518988.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA NM_014265.4 NP_055080.2 Q9UKQ2 ADA28_HUMAN ADAM metallopeptidase domain 28 266 Peptidase M12B. proteolysis|spermatogenesis extracellular region|integral to membrane|plasma membrane metalloendopeptidase activity|zinc ion binding central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 Prostate(55;0.0959) Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175) ATAAAGATAACCCCAAATGCA 0.378000 24 26 0 0 1 0 0 SYTL4 94121 broad.mit.edu 37 X 99957000 99957000 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chrX:99957000C>T ENST00000372981.1 - 2 220 c.34G>A c.(34-36)Gag>Aag p.E12K SYTL4_ENST00000263033.5_Missense_Mutation_p.E12K|SYTL4_ENST00000454200.2_Missense_Mutation_p.E12K|SYTL4_ENST00000455616.1_Missense_Mutation_p.E12K|SYTL4_ENST00000372989.1_Missense_Mutation_p.E12K|SYTL4_ENST00000276141.6_Missense_Mutation_p.E12K Q96C24 SYTL4_HUMAN synaptotagmin-like 4 12 RabBD. exocytosis|intracellular protein transport extrinsic to membrane|plasma membrane|synaptic vesicle|transport vesicle membrane neurexin binding|phospholipid binding|Rab GTPase binding|transporter activity|zinc ion binding endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(2) 27 Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) TTTTCCTCCTCAGACAGAAAA 0.423000 21 11 0 0 1 0 0 PPHLN1 51535 broad.mit.edu 37 12 42840067 42840067 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:42840067C>T ENST00000432191.2 + 11 1325 c.1253C>T c.(1252-1254)tCt>tTt p.S418F PPHLN1_ENST00000256678.8_Missense_Mutation_p.S347F|PPHLN1_ENST00000317560.9_Intron|PPHLN1_ENST00000395568.2_Missense_Mutation_p.S442F NM_001143787.1 NP_001137259.1 Q8NEY8 PPHLN_HUMAN periphilin 1 442 keratinization cytoplasm|nucleus breast(5)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1) 16 all_cancers(12;0.00049)|Breast(8;0.165) Lung NSC(34;0.123) GBM - Glioblastoma multiforme(48;0.0875) gctatgctctctgttgtacat 0.448000 14 37 0 0 1 0 0 HSPG2 3339 broad.mit.edu 37 1 22222798 22222798 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:22222798G>A ENST00000374695.3 - 2 148 c.69C>T c.(67-69)acC>acT p.T23T NM_005529.5 NP_005520.4 P98160 PGBM_HUMAN heparan sulfate proteoglycan 2 23 angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process basement membrane|extracellular space|plasma membrane protein C-terminus binding breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3) 127 Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223) Becaplermin(DB00102)|Palifermin(DB00039) TCAGCCCATGGGTCACCTGTA 0.562000 8 287 0 0 1 0 0 HLA-DQA2 3118 broad.mit.edu 37 6 32713569 32713569 + Splice_Site SNP G G C TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:32713569G>C ENST00000374940.3 + 3 435 c.331_splice c.e3-1 p.E111_splice NM_020056.4 NP_064440.1 P01906 DQA2_HUMAN major histocompatibility complex, class II, DQ alpha 2 111 Alpha-2. antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway endoplasmic reticulum membrane|endosome membrane|Golgi apparatus|integral to plasma membrane|lysosomal membrane|MHC class II protein complex MHC class II receptor activity endometrium(2)|large_intestine(3)|lung(7)|skin(1) 13 Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) TCACCACAGAGGTTCCTGAGG 0.507000 6 164 0 0 1 0 0 FEZF1 389549 broad.mit.edu 37 7 121943751 121943751 + Missense_Mutation SNP A A C TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:121943751A>C ENST00000442488.2 - 1 808 c.741T>G c.(739-741)gaT>gaG p.D247E FEZF1_ENST00000427185.2_Missense_Mutation_p.D197E|FEZF1-AS1_ENST00000428449.1_RNA|FEZF1_ENST00000331178.4_Missense_Mutation_p.D247E NM_001024613.2|NM_001160264.1 NP_001019784.2|NP_001153736.1 A0PJY2 FEZF1_HUMAN FEZ family zinc finger 1 247 cell differentiation|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|large_intestine(3)|lung(18)|ovary(2)|prostate(1) 25 CTCGGCTGAAATCCGAGGTTT 0.498000 81 191 0 0 1 0 0 LMOD2 442721 broad.mit.edu 37 7 123302743 123302743 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:123302743G>A ENST00000458573.2 + 2 1260 c.1103G>A c.(1102-1104)gGa>gAa p.G368E LMOD2_ENST00000456238.2_Intron NM_207163.1 NP_997046.1 Q6P5Q4 LMOD2_HUMAN leiomodin 2 (cardiac) 368 cytoskeleton actin binding|tropomyosin binding CAGCAGGAGGGATACGATGGA 0.473000 61 156 0 0 1 0 0 PDE6B 5158 broad.mit.edu 37 4 661767 661767 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:661767G>A ENST00000255622.6 + 21 2518 c.2475G>A c.(2473-2475)gaG>gaA p.E825E PDE6B_ENST00000496514.1_Silent_p.E825E|PDE6B_ENST00000429163.2_Silent_p.E546E NM_000283.3|NM_001145291.1 NP_000274.2|NP_001138763.1 P35913 PDE6B_HUMAN phosphodiesterase 6B, cGMP-specific, rod, beta 825 cytosolic calcium ion homeostasis|GMP metabolic process|phototransduction, visible light|platelet activation|visual perception cytosol|membrane 3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1) 30 AGGAGAAGGAGGAGGAGGAGA 0.562000 27 103 0 0 1 0 0 CLVS1 157807 broad.mit.edu 37 8 62212635 62212635 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:62212635G>A ENST00000519846.1 + 3 721 c.249G>A c.(247-249)agG>agA p.R83R CLVS1_ENST00000325897.4_Silent_p.R83R|CLVS1_ENST00000518592.1_Intron Q8IUQ0 CLVS1_HUMAN clavesin 1 83 lysosome organization clathrin-coated vesicle|early endosome membrane|trans-Golgi network phosphatidylinositol-3,5-bisphosphate binding|transporter activity endometrium(3)|kidney(4)|large_intestine(4)|lung(21)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 41 TCCGAGCCAGGAAGTTTCACC 0.473000 26 60 0 0 1 0 0 LILRA6 79168 broad.mit.edu 37 19 54745486 54745486 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:54745486G>A ENST00000440558.2 - 4 672 c.624C>T c.(622-624)tcC>tcT p.S208S LILRA6_ENST00000396365.2_Silent_p.S208S|LILRA6_ENST00000270464.5_Silent_p.S208S|LILRA6_ENST00000245621.5_Silent_p.S208S|LILRB3_ENST00000407860.2_Intron|LILRA6_ENST00000391735.3_Intron|LILRA6_ENST00000419410.2_Silent_p.S208S leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 6 central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(20)|ovary(3)|skin(2)|urinary_tract(2) 38 all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) CACTGGGGTGGGACCACACCC 0.612000 4 131 0 0 1 0 0 SYNPO2 171024 broad.mit.edu 37 4 119978767 119978767 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:119978767C>T ENST00000307142.4 + 5 3660 c.3464C>T c.(3463-3465)tCc>tTc p.S1155F SYNPO2_ENST00000448416.2_3'UTR NM_133477.2 NP_597734.2 Q9UMS6 SYNP2_HUMAN synaptopodin 2 800 nucleus|Z disc 14-3-3 protein binding|actin binding|muscle alpha-actinin binding breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 ATCCAGGAATCCATTGTGGCA 0.493000 37 90 0 0 1 0 0 SH3RF2 153769 broad.mit.edu 37 5 145435619 145435619 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:145435619C>T ENST00000511217.1 + 7 1450 c.1398C>T c.(1396-1398)tcC>tcT p.S466S SH3RF2_ENST00000359120.4_Silent_p.S466S|SH3RF2_ENST00000511705.1_3'UTR Q8TEC5 SH3R2_HUMAN SH3 domain containing ring finger 2 466 ligase activity|protein phosphatase 1 binding|zinc ion binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1) 22 KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) CCTCTGTGTCCTCCCAAGGCA 0.507000 103 209 0 0 1 0 0 USP36 57602 broad.mit.edu 37 17 76799899 76799899 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:76799899G>A ENST00000312010.6 - 16 2702 c.2378C>T c.(2377-2379)tCt>tTt p.S793F USP36_ENST00000542802.2_Missense_Mutation_p.S793F|USP36_ENST00000449938.2_Intron NM_025090.3 NP_079366.3 Q9P275 UBP36_HUMAN ubiquitin specific peptidase 36 793 ubiquitin-dependent protein catabolic process nucleolus cysteine-type peptidase activity|ubiquitin thiolesterase activity breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 34 BRCA - Breast invasive adenocarcinoma(99;0.000842)|OV - Ovarian serous cystadenocarcinoma(97;0.151) GTGTGGAAGAGACACAAGGTC 0.617000 31 189 0 0 1 0 0 SH3KBP1 30011 broad.mit.edu 37 X 19560223 19560223 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chrX:19560223G>A ENST00000397821.3 - 16 2002 c.1712C>T c.(1711-1713)cCc>cTc p.P571L SH3KBP1_ENST00000379698.4_Missense_Mutation_p.P534L|SH3KBP1_ENST00000541422.1_Missense_Mutation_p.P310L|SH3KBP1_ENST00000379716.1_Missense_Mutation_p.P333L NM_031892.2 NP_114098.1 Q96B97 SH3K1_HUMAN SH3-domain kinase binding protein 1 571 apoptosis|cell-cell signaling|endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway cytoplasmic vesicle membrane|cytoskeleton|cytosol|focal adhesion|nucleus|synapse|synaptosome SH3 domain binding breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(4) 29 CAGGGGGGAGGGCGCCGCTGA 0.647000 97 15 0 0 1 0 0 ZFYVE21 79038 broad.mit.edu 37 14 104195252 104195252 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr14:104195252C>T ENST00000216602.6 + 4 478 c.366C>T c.(364-366)acC>acT p.T122T ZFYVE21_ENST00000311141.2_Silent_p.T122T NM_001198953.1 NP_001185882.1 Q9BQ24 ZFY21_HUMAN zinc finger, FYVE domain containing 21 122 cytoplasmic membrane-bounded vesicle|focal adhesion metal ion binding breast(1)|endometrium(2)|large_intestine(1)|lung(2)|skin(2) 8 Melanoma(154;0.226) Epithelial(152;0.245) AAGGAGCCACCTTCCTCGTCA 0.527000 7 103 0 0 1 0 0 ZNF836 162962 broad.mit.edu 37 19 52660058 52660058 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:52660058C>T ENST00000322146.8 - 5 1399 c.878G>A c.(877-879)cGg>cAg p.R293Q CTC-471J1.8_ENST00000594362.1_RNA|ZNF836_ENST00000597252.1_Missense_Mutation_p.R293Q NM_001102657.1 NP_001096127.1 Q6ZNA1 ZN836_HUMAN zinc finger protein 836 293 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 26 GTGACTTCTCCGGTGATTTAC 0.393000 31 70 0 0 1 0 0 HMCN1 83872 broad.mit.edu 37 1 186105930 186105930 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:186105930C>T ENST00000271588.4 + 87 13672 c.13443C>T c.(13441-13443)tcC>tcT p.S4481S HMCN1_ENST00000367492.2_Silent_p.S4481S NM_031935.2 NP_114141.2 Q96RW7 HMCN1_HUMAN hemicentin 1 4481 Ig-like C2-type 44. response to stimulus|visual perception basement membrane calcium ion binding NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18) 308 ACTCTATTTCCTGGGATGACC 0.413000 7 165 0 0 1 0 0 PAXBP1 94104 broad.mit.edu 37 21 34136668 34136668 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr21:34136668G>A ENST00000331923.4 - 3 829 c.640C>T c.(640-642)Ctt>Ttt p.L214F PAXBP1_ENST00000290178.4_Missense_Mutation_p.L214F|PAXBP1_ENST00000472588.1_5'UTR NM_016631.3 NP_057715.2 PAX3 and PAX7 binding protein 1 CCTGGACGAAGAACATTCAAT 0.358000 30 44 0 0 1 0 0 CDH18 1016 broad.mit.edu 37 5 19591301 19591301 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:19591301C>T ENST00000507958.1 - 9 1854 c.864G>A c.(862-864)ggG>ggA p.G288G CDH18_ENST00000506372.1_Silent_p.G288G|CDH18_ENST00000274170.4_Silent_p.G288G|CDH18_ENST00000502796.1_Silent_p.G288G|CDH18_ENST00000511273.1_Silent_p.G288G|CDH18_ENST00000382275.1_Silent_p.G288G Q13634 CAD18_HUMAN cadherin 18, type 2 288 Cadherin 3. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1) 138 Lung NSC(1;0.00734)|all_lung(1;0.0197) CCTTGATTTTCCCAACAGCTG 0.383000 36 66 0 0 1 0 0 TNFAIP2 7127 broad.mit.edu 37 14 103600052 103600052 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr14:103600052C>T ENST00000560869.1 + 11 2374 c.1735C>T c.(1735-1737)Cct>Tct p.P579S TNFAIP2_ENST00000451723.2_Missense_Mutation_p.P248S|TNFAIP2_ENST00000538222.1_Missense_Mutation_p.P62S|TNFAIP2_ENST00000333007.1_Missense_Mutation_p.P579S Q03169 TNAP2_HUMAN tumor necrosis factor, alpha-induced protein 2 579 angiogenesis|cell differentiation extracellular space NS(1)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1) 11 Melanoma(154;0.155) Epithelial(46;0.191) GCCTGCTCTCCCTACGCTGGC 0.642000 19 31 0 0 1 0 0 SOX5 6660 broad.mit.edu 37 12 24048839 24048839 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:24048839G>A ENST00000546136.1 - 1 121 c.119C>T c.(118-120)cCc>cTc p.P40L SOX5_ENST00000541847.1_Missense_Mutation_p.P43L|SOX5_ENST00000541536.1_Missense_Mutation_p.P40L|SOX5_ENST00000545921.1_Missense_Mutation_p.P43L|SOX5_ENST00000441133.2_Missense_Mutation_p.P53L|SOX5_ENST00000381381.2_Missense_Mutation_p.P40L|SOX5_ENST00000451604.2_Missense_Mutation_p.P53L|SOX5_ENST00000537393.1_Missense_Mutation_p.P53L|SOX5_ENST00000309359.1_Missense_Mutation_p.P40L P35711 SOX5_HUMAN SRY (sex determining region Y)-box 5 53 transcription from RNA polymerase II promoter nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(25)|ovary(5)|skin(2)|upper_aerodigestive_tract(3) 57 CACATGCAAGGGAAGGTGAAA 0.532000 8 361 0 0 1 0 0 HSF5 124535 broad.mit.edu 37 17 56557487 56557487 + Nonsense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:56557487C>T ENST00000323777.3 - 2 801 c.692G>A c.(691-693)tGg>tAg p.W231* NM_001080439.1 NP_001073908.1 Q4G112 HSF5_HUMAN heat shock transcription factor family member 5 231 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|skin(1) 16 Medulloblastoma(34;0.127)|all_neural(34;0.237) GGAGTTCTGCCATATTCTATG 0.473000 34 141 0 0 1 0 0 MAGEA10 4109 broad.mit.edu 37 X 151303337 151303337 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chrX:151303337C>T ENST00000370323.4 - 4 1072 c.756G>A c.(754-756)atG>atA p.M252I RP11-1007I13.4_ENST00000509345.2_RNA|MAGEA10_ENST00000244096.3_Missense_Mutation_p.M252I NM_001251828.1|NM_021048.4 NP_001238757.1|NP_066386.2 P43363 MAGAA_HUMAN melanoma antigen family A, 10 252 MAGE. endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 Acute lymphoblastic leukemia(192;6.56e-05) ACAGCCCCATCATATTCAGTG 0.522000 75 27 0 0 1 0 0 OR2T10 127069 broad.mit.edu 37 1 248756817 248756817 + Nonsense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:248756817G>A ENST00000330500.2 - 1 283 c.253C>T c.(253-255)Cag>Tag p.Q85* NM_001004693.1 NP_001004693.1 Q8NGZ9 O2T10_HUMAN olfactory receptor, family 2, subfamily T, member 10 85 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(17)|skin(3)|upper_aerodigestive_tract(1) 26 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) TTGGCCAGCTGGTTCACCAGC 0.498000 7 70 0 0 1 0 0 SCARF1 8578 broad.mit.edu 37 17 1538607 1538607 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:1538607G>A ENST00000263071.4 - 11 1987 c.1938C>T c.(1936-1938)tcC>tcT p.S646S SCARF1_ENST00000571272.1_3'UTR|SCARF1_ENST00000348987.3_Silent_p.S560S NM_003693.2|NM_145350.1 NP_003684.2|NP_663325.1 Q14162 SREC_HUMAN scavenger receptor class F, member 1 646 Gly-rich. cell adhesion|neuron remodeling|positive regulation of axon regeneration|receptor-mediated endocytosis integral to membrane low-density lipoprotein particle binding|scavenger receptor activity cervix(1)|endometrium(3)|kidney(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 UCEC - Uterine corpus endometrioid carcinoma (25;0.0822) CCGCCGGAAAGGACTCGGGGG 0.692000 20 32 0 0 1 0 0 TLDC2 140711 broad.mit.edu 37 20 35507514 35507514 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr20:35507514G>A ENST00000217320.3 + 3 304 c.260G>A c.(259-261)gGt>gAt p.G87D TLDC2_ENST00000602922.1_Missense_Mutation_p.G87D NM_080628.1 NP_542195.1 TBC/LysM-associated domain containing 2 TCAAGGGACGGTTTCAGCCTG 0.642000 61 110 0 0 1 0 0 LRP1B 53353 broad.mit.edu 37 2 141299511 141299511 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:141299511G>A ENST00000389484.3 - 44 8195 c.7224C>T c.(7222-7224)ttC>ttT p.F2408F NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 2408 protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) CCAAACTGAGGAAAGTCCCTG 0.363000 TSP Lung(27;0.18) 22 51 0 0 1 0 0 ZNF484 83744 broad.mit.edu 37 9 95609536 95609536 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:95609536G>A ENST00000395505.2 - 3 1517 c.1425C>T c.(1423-1425)ctC>ctT p.L475L ZNF484_ENST00000332591.6_Silent_p.L475L|ZNF484_ENST00000375495.3_Silent_p.L511L|ANKRD19P_ENST00000473204.1_RNA|ZNF484_ENST00000395506.3_Silent_p.L513L NM_001261459.1|NM_001261460.1 NP_001248388.1|NP_001248389.1 Q5JVG2 ZN484_HUMAN zinc finger protein 484 511 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|cervix(1)|kidney(8)|large_intestine(10)|lung(10)|prostate(2) 33 GGTGCTTAATGAGATTTGACC 0.393000 53 119 0 0 1 0 0 BTBD17 388419 broad.mit.edu 37 17 72352879 72352879 + Missense_Mutation SNP A A T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:72352879A>T ENST00000375366.3 - 3 1480 c.1354T>A c.(1354-1356)Tcc>Acc p.S452T NM_001080466.1 NP_001073935.1 A6NE02 BTBDH_HUMAN BTB (POZ) domain containing 17 452 extracellular region endometrium(1)|kidney(1)|lung(4) 6 AGGTACTCGGAGTTGCGCCGC 0.662000 16 41 0 0 1 0 0 UVRAG 7405 broad.mit.edu 37 11 75852124 75852124 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:75852124C>T ENST00000356136.3 + 15 2008 c.1767C>T c.(1765-1767)ctC>ctT p.L589L UVRAG_ENST00000539288.1_Silent_p.L217L|UVRAG_ENST00000538870.1_Silent_p.L145L|UVRAG_ENST00000533454.1_Silent_p.L217L|UVRAG_ENST00000532130.1_Silent_p.L217L|UVRAG_ENST00000531818.1_Silent_p.L217L|UVRAG_ENST00000528420.1_Silent_p.L488L NM_003369.3 NP_003360.2 Q9P2Y5 UVRAG_HUMAN UV radiation resistance associated 589 DNA repair|positive regulation of autophagy early endosome|late endosome|lysosome protein binding central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(15)|skin(5)|urinary_tract(2) 32 GAGAAGCCCTCTCCGGGCACC 0.572000 32 60 0 0 1 0 0 TOP1MT 116447 broad.mit.edu 37 8 144399945 144399945 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:144399945C>T ENST00000523676.1 - 11 1389 c.984G>A c.(982-984)cgG>cgA p.R328R TOP1MT_ENST00000521193.1_Silent_p.R328R|TOP1MT_ENST00000329245.4_Silent_p.R426R|TOP1MT_ENST00000519148.1_Silent_p.R328R Q969P6 TOP1M_HUMAN topoisomerase (DNA) I, mitochondrial 426 DNA topological change chromosome|mitochondrial nucleoid ATP binding|chromatin DNA binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA topoisomerase type I activity endometrium(5)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(2) 23 all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173) Irinotecan(DB00762)|Topotecan(DB01030) CGTTGTAGGTCCGGAACACCT 0.632000 23 56 0 0 1 0 0 NCOA2 10499 broad.mit.edu 37 8 71044193 71044193 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:71044193G>A ENST00000452400.2 - 16 3384 c.3203C>T c.(3202-3204)cCt>cTt p.P1068L NCOA2_ENST00000267974.4_Missense_Mutation_p.P156L NM_006540.2 NP_006531.1 Q15596 NCOA2_HUMAN nuclear receptor coactivator 2 1068 cellular lipid metabolic process|transcription, DNA-dependent nucleoplasm histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity PAX3/NCOA2(4)|HEY1/NCOA2(10) NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4) 60 Breast(64;0.201) Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606) CTCAGCTGCAGGATGTGGACA 0.498000 T """RUNXBP2, HEY1""" """AML, Chondrosarcoma""" 3 19 0 0 1 0 0 C1orf127 148345 broad.mit.edu 37 1 11017793 11017793 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:11017793G>A ENST00000377004.4 - 7 572 c.573C>T c.(571-573)tcC>tcT p.S191S C1orf127_ENST00000377008.4_Silent_p.S42S NM_001170754.1 NP_001164225.1 B7ZLG7 B7ZLG7_HUMAN chromosome 1 open reading frame 127 42 NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(5) 32 Ovarian(185;0.249) Lung NSC(185;0.000226)|all_lung(284;0.000302)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731) STAD - Stomach adenocarcinoma(5;0.0224) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.71e-07)|COAD - Colon adenocarcinoma(227;7.79e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000305)|Kidney(185;0.000785)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|READ - Rectum adenocarcinoma(331;0.0509) CCCCTCGAAGGGACAGCAGCC 0.577000 39 116 0 0 1 0 0 NUP210P1 255330 broad.mit.edu 37 3 126386101 126386101 + RNA SNP T T A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:126386101T>A ENST00000357061.3 + 0 553 NR_034158.1 ACCAGAACCCTTTCTCCTTTG 0.582000 15 51 0 0 1 0 0 BRINP3 339479 broad.mit.edu 37 1 190195368 190195368 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:190195368C>T ENST00000367462.3 - 6 1036 c.805G>A c.(805-807)Gga>Aga p.G269R FAM5C_ENST00000534846.1_Missense_Mutation_p.G167R|FAM5C_ENST00000484105.1_5'UTR NM_199051.1 NP_950252.1 Q76B58 FAM5C_HUMAN 269 extracellular region NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2) 164 Prostate(682;0.198) ATAAACTCTCCCTCTGAATTG 0.443000 33 82 0 0 1 0 0 WSCD1 23302 broad.mit.edu 37 17 6021339 6021339 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:6021339C>T ENST00000574946.1 + 8 1596 c.1206C>T c.(1204-1206)agC>agT p.S402S WSCD1_ENST00000574232.1_Silent_p.S402S|WSCD1_ENST00000573634.1_Silent_p.S286S|WSCD1_ENST00000317744.5_Silent_p.S402S|WSCD1_ENST00000539421.1_Silent_p.S402S Q658N2 WSCD1_HUMAN WSC domain containing 1 402 integral to membrane sulfotransferase activity breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(1) 35 ACTGGCGGAGCCGACGCACCA 0.557000 33 76 0 0 1 0 0 GPX2 2877 broad.mit.edu 37 14 65409291 65409291 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr14:65409291C>T ENST00000389614.5 - 1 240 c.154G>A c.(154-156)Gag>Aag p.E52K CHURC1-FNTB_ENST00000542227.1_Intron|CHURC1-FNTB_ENST00000447296.2_Intron NM_002083.3 NP_002074.2 P18283 GPX2_HUMAN glutathione peroxidase 2 (gastrointestinal) 52 response to oxidative stress cytoplasm electron carrier activity|glutathione peroxidase activity large_intestine(2)|ovary(1)|skin(1) 4 all cancers(60;0.00117)|OV - Ovarian serous cystadenocarcinoma(108;0.00557)|BRCA - Breast invasive adenocarcinoma(234;0.00971) Glutathione(DB00143) CATTGCAGCTCGTTGAGCTGG 0.567000 55 93 0 0 1 0 0 MARVELD2 153562 broad.mit.edu 37 5 68715365 68715365 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:68715365C>T ENST00000325631.5 + 2 227 c.153C>T c.(151-153)ctC>ctT p.L51L MARVELD2_ENST00000413223.2_Silent_p.L51L NM_001038603.2|NM_001244734.1 NP_001033692.2|NP_001231663.1 Q8N4S9 MALD2_HUMAN MARVEL domain containing 2 51 Poly-Pro. sensory perception of sound integral to membrane|tight junction NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(4)|skin(1)|urinary_tract(1) 15 Lung NSC(167;0.000937)|Prostate(74;0.0187)|Ovarian(174;0.16) OV - Ovarian serous cystadenocarcinoma(47;7.31e-57)|Epithelial(20;1.05e-52)|all cancers(19;2.63e-48)|Lung(70;0.0183) CACCCCCTCTCCCATTACAGC 0.542000 34 70 0 0 1 0 0 C17orf78 284099 broad.mit.edu 37 17 35736128 35736128 + Missense_Mutation SNP A A G TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:35736128A>G ENST00000300618.4 + 3 249 c.199A>G c.(199-201)Acc>Gcc p.T67A ACACA_ENST00000416895.1_Intron|C17orf78_ENST00000586700.1_Missense_Mutation_p.T67A|ACACA_ENST00000353139.5_Intron NM_173625.3 NP_775896.3 Q8N4C9 CQ078_HUMAN chromosome 17 open reading frame 78 67 integral to membrane NS(1)|endometrium(1)|large_intestine(1)|lung(2)|stomach(1) 6 Breast(25;0.00295)|Ovarian(249;0.15) GACTATAGCTACCCTGCAGTG 0.403000 38 88 0 0 1 0 0 CYP4F12 66002 broad.mit.edu 37 19 15793273 15793273 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:15793273G>A ENST00000550308.1 + 6 980 c.600G>A c.(598-600)ttG>ttA p.L200L CYP4F12_ENST00000324632.9_Silent_p.L200L NM_023944.3 NP_076433.3 cytochrome P450, family 4, subfamily F, polypeptide 12 NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2) 41 Acute lymphoblastic leukemia(2;0.0367) TCATGACCTTGGACAGTCTAC 0.522000 61 107 0 0 1 0 0 GABRP 2568 broad.mit.edu 37 5 170239170 170239170 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:170239170C>T ENST00000518525.1 + 11 1695 c.1231C>T c.(1231-1233)Ccc>Tcc p.P411S GABRP_ENST00000265294.4_Missense_Mutation_p.P411S|GABRP_ENST00000519385.1_3'UTR O00591 GBRP_HUMAN gamma-aminobutyric acid (GABA) A receptor, pi 411 cell junction|chloride channel complex|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity NS(1)|breast(1)|cervix(1)|endometrium(5)|large_intestine(4)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 29 Renal(175;0.000159)|Lung NSC(126;0.0122)|all_lung(126;0.0193) Medulloblastoma(196;0.0109)|all_neural(177;0.0298) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) AATTCAAAACCCCAGTAATGT 0.363000 33 69 0 0 1 0 0 SNORD113-4 767564 broad.mit.edu 37 14 101402881 101402881 + RNA SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr14:101402881C>T ENST00000364802.1 + 0 54 NR_003232.1 TGATTAAACCCATATGCAATT 0.378000 42 95 0 0 1 0 0 HTR4 3360 broad.mit.edu 37 5 147830816 147830816 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:147830816C>T ENST00000354217.2 - 7 1259 c.1096G>A c.(1096-1098)Gga>Aga p.G366R HTR4_ENST00000314512.6_3'UTR|HTR4_ENST00000521735.1_3'UTR|HTR4_ENST00000521530.1_Missense_Mutation_p.G366R Q13639 5HT4R_HUMAN 5-hydroxytryptamine (serotonin) receptor 4, G protein-coupled 0 G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cell proliferation endosome|integral to plasma membrane|membrane fraction serotonin receptor activity endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) Cisapride(DB00604)|Rizatriptan(DB00953)|Tegaserod(DB01079)|Zolmitriptan(DB00315) TGATGATGTCCCCTGTGCAGA 0.478000 8 200 0 0 1 0 0 ZFYVE9 9372 broad.mit.edu 37 1 52732378 52732378 + Missense_Mutation SNP A A T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:52732378A>T ENST00000287727.3 + 6 2502 c.2330A>T c.(2329-2331)aAc>aTc p.N777I ZFYVE9_ENST00000357206.2_Intron|ZFYVE9_ENST00000371591.1_Missense_Mutation_p.N777I NM_004799.2 NP_004790.2 O95405 ZFYV9_HUMAN zinc finger, FYVE domain containing 9 777 SBD. endocytosis|SMAD protein complex assembly|SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway early endosome membrane metal ion binding|protein binding|receptor activity|serine-type peptidase activity breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6) 53 CCTAACCCTAACAATCCTGCT 0.493000 39 106 0 0 1 0 0 TPBG 7162 broad.mit.edu 37 6 83075533 83075533 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:83075533C>T ENST00000369750.3 + 2 1472 c.855C>T c.(853-855)ccC>ccT p.P285P TPBG_ENST00000535040.1_Silent_p.P285P|TPBG_ENST00000543496.1_Silent_p.P285P Q13641 TPBG_HUMAN trophoblast glycoprotein 285 cell adhesion integral to plasma membrane central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1) 15 all_cancers(76;0.000805)|Acute lymphoblastic leukemia(125;3.85e-06)|all_hematologic(105;0.0017)|all_epithelial(107;0.0897) BRCA - Breast invasive adenocarcinoma(397;0.107) AAGGTCTACCCCACATTAGGG 0.547000 39 84 0 0 1 0 0 COL20A1 57642 broad.mit.edu 37 20 61941191 61941191 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr20:61941191C>T ENST00000422202.1 + 9 1276 c.1208C>T c.(1207-1209)tCc>tTc p.S403F COL20A1_ENST00000358894.6_Missense_Mutation_p.S396F|COL20A1_ENST00000326996.6_Missense_Mutation_p.S396F|COL20A1_ENST00000435874.1_Missense_Mutation_p.S403F Q9P218 COKA1_HUMAN collagen, type XX, alpha 1 396 Fibronectin type-III 2. cell adhesion collagen|extracellular space structural molecule activity NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2) 36 all_cancers(38;1.39e-10) ATCCGCCTGTCCTGGACTCCA 0.677000 OREG0026127 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 5 23 0 0 1 0 0 PCDHB10 56126 broad.mit.edu 37 5 140572463 140572463 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:140572463C>T ENST00000239446.4 + 1 522 c.338C>T c.(337-339)cCc>cTc p.P113L NM_018930.3 NP_061753.1 Q9UN67 PCDBA_HUMAN 113 Cadherin 1. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 76 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) ATGGATGATCCCTTTCAGATT 0.418000 24 67 0 0 1 0 0 OR2L13 284521 broad.mit.edu 37 1 248262738 248262738 + Nonsense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:248262738C>T ENST00000366478.2 + 3 398 c.61C>T c.(61-63)Caa>Taa p.Q21* OR2L13_ENST00000358120.2_Nonsense_Mutation_p.Q21* NM_175911.2 NP_787107.1 Q8N349 OR2LD_HUMAN olfactory receptor, family 2, subfamily L, member 13 21 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity|protein binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(32)|ovary(1)|skin(3)|upper_aerodigestive_tract(1) 59 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0132) TCCCCCAAATCAAACTGGAAT 0.418000 13 237 0 0 1 0 0 CRYZ 1429 broad.mit.edu 37 1 75172025 75172025 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:75172025G>A ENST00000417775.1 - 10 1449 c.945C>T c.(943-945)atC>atT p.I315I CRYZ_ENST00000492102.1_5'UTR|CRYZ_ENST00000370871.3_Silent_p.I281I|CRYZ_ENST00000340866.5_Silent_p.I315I|CRYZ_ENST00000370872.3_Silent_p.I178I NM_001130042.1 NP_001123514.1 Q08257 QOR_HUMAN crystallin, zeta (quinone reductase) 315 protein homotetramerization|visual perception|xenobiotic catabolic process cytosol|Golgi apparatus mRNA 3'-UTR binding|NADPH binding|NADPH:quinone reductase activity|zinc ion binding NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(5) 10 Dicumarol(DB00266) TACCATGAATGATATTTTCAT 0.418000 40 98 0 0 1 0 0 VWA3B 200403 broad.mit.edu 37 2 98779411 98779411 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:98779411C>T ENST00000477737.1 + 8 1290 c.1086C>T c.(1084-1086)ccC>ccT p.P362P VWA3B_ENST00000435344.1_Silent_p.P362P|VWA3B_ENST00000451075.2_Silent_p.P212P NM_144992.4 NP_659429.4 Q502W6 VWA3B_HUMAN von Willebrand factor A domain containing 3B 362 NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 70 CCGAGCCTCCCAAGCCCGACG 0.572000 11 111 0 0 1 0 0 SYT14 255928 broad.mit.edu 37 1 210273376 210273376 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:210273376C>T ENST00000537238.1 + 7 1011 c.620C>T c.(619-621)tCa>tTa p.S207L SYT14_ENST00000399639.2_Missense_Mutation_p.S245L|SYT14_ENST00000422431.1_Missense_Mutation_p.S290L|SYT14_ENST00000534859.1_Missense_Mutation_p.S245L|SYT14_ENST00000271745.7_3'UTR|SYT14_ENST00000367015.1_Missense_Mutation_p.S207L|SYT14_ENST00000472886.1_Missense_Mutation_p.S245L|SYT14_ENST00000367019.1_Missense_Mutation_p.S245L NM_001256006.1|NM_153262.3 NP_001242935.1|NP_694994.2 Q8NB59 SYT14_HUMAN synaptotagmin XIV 245 integral to membrane endometrium(4)|large_intestine(11)|lung(17)|ovary(1)|prostate(1)|skin(3) 37 OV - Ovarian serous cystadenocarcinoma(81;0.085) GCTCAAGGATCATCTTCGCAG 0.338000 24 75 0 0 1 0 0 SNED1 25992 broad.mit.edu 37 2 241991543 241991543 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:241991543C>T ENST00000310397.8 + 14 1938 c.1938C>T c.(1936-1938)ccC>ccT p.P646P SNED1_ENST00000342631.6_Silent_p.P646P|SNED1_ENST00000401884.1_Silent_p.P646P|SNED1_ENST00000405547.3_Silent_p.P646P|AC005237.4_ENST00000458377.1_RNA|SNED1_ENST00000469006.1_3'UTR NM_001080437.1 NP_001073906.1 Q8TER0 SNED1_HUMAN sushi, nidogen and EGF-like domains 1 646 EGF-like 9. cell-matrix adhesion extracellular region calcium ion binding NS(1)|breast(1)|central_nervous_system(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1) 24 all_cancers(19;7.48e-31)|all_epithelial(40;1.35e-12)|Breast(86;0.000148)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238) Epithelial(32;6.46e-32)|all cancers(36;6.23e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.1e-14)|Kidney(56;6.35e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.98e-08)|BRCA - Breast invasive adenocarcinoma(100;3.66e-06)|Lung(119;0.00072)|LUSC - Lung squamous cell carcinoma(224;0.00553)|Colorectal(34;0.0162)|COAD - Colon adenocarcinoma(134;0.109) GTGACTGTCCCCCAGGCTTCT 0.617000 15 47 0 0 1 0 0 THBS2 7058 broad.mit.edu 37 6 169632899 169632899 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:169632899G>A ENST00000366787.3 - 13 2041 c.1792C>T c.(1792-1794)Ccc>Tcc p.P598S XXyac-YX65C7_A.2_ENST00000444188.1_RNA NM_003247.2 NP_003238.2 P35442 TSP2_HUMAN thrombospondin 2 598 EGF-like 2; calcium-binding (Potential). cell adhesion extracellular region calcium ion binding|heparin binding|protein binding|structural molecule activity p.P598S(1) NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 111 Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247) OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379) CAGATGTCGGGGACCAGGGCA 0.677000 23 46 0 0 1 0 0 MN1 4330 broad.mit.edu 37 22 28193360 28193360 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr22:28193360C>T ENST00000302326.4 - 1 4126 c.3172G>A c.(3172-3174)Gag>Aag p.E1058K NM_002430.2 NP_002421.3 Q10571 MN1_HUMAN meningioma (disrupted in balanced translocation) 1 1058 binding NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 45 GACGACACCTCGTCCTCATTG 0.642000 T ETV6 """AML, meningioma""" 43 96 0 0 1 0 0 CXCR2P1 3580 broad.mit.edu 37 2 218924864 218924864 + RNA SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:218924864G>A ENST00000439871.1 - 0 1516 NR_002712.1 AGTAATTATGGCAAGGGGTGA 0.512000 6 6 0 0 1 0 0 PSG7 5676 broad.mit.edu 37 19 43428845 43428845 + RNA SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:43428845C>T ENST00000406070.2 - 0 1471 NM_002783.2 NP_002774.2 Q13046 PSG7_HUMAN pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene) female pregnancy extracellular region Prostate(69;0.00682) caaggattttcccatgaaatt 0.418000 9 44 0 0 1 0 0 KIAA0586 9786 broad.mit.edu 37 14 58934579 58934579 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr14:58934579C>T ENST00000423743.3 + 17 2507 c.2249C>T c.(2248-2250)cCt>cTt p.P750L KIAA0586_ENST00000556134.1_Missense_Mutation_p.P779L|KIAA0586_ENST00000538571.2_3'UTR|KIAA0586_ENST00000354386.6_Missense_Mutation_p.P847L|KIAA0586_ENST00000261244.5_Missense_Mutation_p.P718L NM_001244191.1|NM_001244192.1 NP_001231120.1|NP_001231121.1 E9PGW8 E9PGW8_HUMAN KIAA0586 718 endometrium(4)|kidney(6)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 GTAAAGAAACCTAACATAGCC 0.423000 40 92 0 0 1 0 0 PDZD2 23037 broad.mit.edu 37 5 32090945 32090945 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:32090945G>A ENST00000438447.1 + 20 7779 c.7391G>A c.(7390-7392)aGg>aAg p.R2464K PDZD2_ENST00000282493.3_Missense_Mutation_p.R2464K O15018 PDZD2_HUMAN PDZ domain containing 2 2464 cell adhesion cell-cell junction|endoplasmic reticulum|extracellular region|nucleus NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 148 CCTGTTAAGAGGAACAAGTCC 0.567000 6 141 0 0 1 0 0 MRGPRX2 117194 broad.mit.edu 37 11 19077810 19077810 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:19077810C>T ENST00000329773.2 - 2 227 c.140G>A c.(139-141)gGa>gAa p.G47E NM_054030.2 NP_473371.1 Q96LB1 MRGX2_HUMAN MAS-related GPR, member X2 47 sensory perception of pain|sleep plasma membrane G-protein coupled receptor activity|neuropeptide binding NS(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1) 15 AAACCCGTTTCCTACCAGCCC 0.582000 71 70 0 0 1 0 0 SULF1 23213 broad.mit.edu 37 8 70513996 70513996 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:70513996C>T ENST00000260128.4 + 10 1710 c.993C>T c.(991-993)tcC>tcT p.S331S SULF1_ENST00000521946.1_3'UTR|SULF1_ENST00000419716.3_Silent_p.S331S|SULF1_ENST00000402687.4_Silent_p.S331S|SULF1_ENST00000458141.2_Silent_p.S331S NM_015170.2 NP_055985.2 Q8IWU6 SULF1_HUMAN sulfatase 1 331 apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway cell surface|endoplasmic reticulum|extracellular space|Golgi stack arylsulfatase activity|calcium ion binding breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 52 Breast(64;0.0654) Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534) AGGGGAAATCCATGCCATATG 0.448000 99 213 0 0 1 0 0 KIF26B 55083 broad.mit.edu 37 1 245851937 245851937 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:245851937G>A ENST00000366518.4 + 9 4613 c.4509G>A c.(4507-4509)ggG>ggA p.G1503G KIF26B_ENST00000407071.2_Silent_p.G1884G Q2KJY2 KI26B_HUMAN kinesin family member 26B 1884 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 51 all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127) OV - Ovarian serous cystadenocarcinoma(106;0.022) CGGCCATGGGGAAGACGGCCC 0.721000 5 5 0 0 1 0 0 SPTA1 6708 broad.mit.edu 37 1 158582696 158582696 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:158582696C>T ENST00000368148.3 - 51 7225 c.7045G>A c.(7045-7047)Gaa>Aaa p.E2349K SPTA1_ENST00000368147.3_Missense_Mutation_p.E2346K NM_003126.2 NP_003117.2 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 (elliptocytosis 2) 2349 EF-hand 2. actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6) 307 all_hematologic(112;0.0378) TTGATGTTTTCTGACTCCTTG 0.473000 24 90 0 0 1 0 0 ABCA12 26154 broad.mit.edu 37 2 215865496 215865496 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:215865496C>T ENST00000272895.7 - 22 3331 c.3112G>A c.(3112-3114)Gga>Aga p.G1038R ABCA12_ENST00000389661.4_Missense_Mutation_p.G720R NM_173076.2 NP_775099.2 Q86UK0 ABCAC_HUMAN ATP-binding cassette, sub-family A (ABC1), member 12 1038 cellular homeostasis|lipid transport integral to membrane ATP binding|ATPase activity NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 139 Renal(323;0.127) Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011) GAGTTCCTTCCAGTTTGCAAT 0.413000 45 123 0 0 1 0 0 CHIA 27159 broad.mit.edu 37 1 111862893 111862893 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:111862893G>A ENST00000369740.1 + 12 1339 c.1236G>A c.(1234-1236)ggG>ggA p.G412G RP5-1125M8.2_ENST00000426321.1_RNA|CHIA_ENST00000430615.1_Silent_p.G304G|CHIA_ENST00000483391.1_Silent_p.G251G|CHIA_ENST00000343320.6_Silent_p.G412G|CHIA_ENST00000451398.2_Silent_p.G251G|CHIA_ENST00000353665.6_Silent_p.G251G NM_001258001.1|NM_201653.3 NP_001244930.1|NP_970615.2 Q9BZP6 CHIA_HUMAN chitinase, acidic 412 apoptosis|cell wall chitin metabolic process|chitin catabolic process|digestion|immune response|positive regulation of chemokine secretion|production of molecular mediator involved in inflammatory response|response to acid|response to fungus cytoplasm|extracellular space cation binding|chitin binding|chitinase activity|kinase binding|lysozyme activity|sugar binding central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|skin(1) 23 all_cancers(81;3.23e-05)|all_epithelial(167;1.2e-05)|all_lung(203;0.000154)|Lung NSC(277;0.000304) Colorectal(144;0.0115)|Lung(183;0.0292)|COAD - Colon adenocarcinoma(174;0.0314)|all cancers(265;0.0477)|Epithelial(280;0.0918)|LUSC - Lung squamous cell carcinoma(189;0.154) GTGGCAGCGGGAACGGGAGCG 0.582000 38 67 0 0 1 0 0 TRBV30 28557 broad.mit.edu 37 7 142510295 142510295 + RNA SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:142510295C>T ENST00000417977.2 - 0 422 GAGATAGAAGCCAGAGTCACT 0.577000 15 34 0 0 1 0 0 RBMX 27316 broad.mit.edu 37 X 135958667 135958667 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chrX:135958667C>T ENST00000562646.1 - 5 690 c.536G>A c.(535-537)gGa>gAa p.G179E RBMX_ENST00000431446.3_Intron|RBMX_ENST00000570135.1_Missense_Mutation_p.G44E|RBMX_ENST00000565438.1_Missense_Mutation_p.G51E|RBMX_ENST00000320676.7_Missense_Mutation_p.G179E P38159 HNRPG_HUMAN RNA binding motif protein, X-linked 179 catalytic step 2 spliceosome|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm nucleotide binding|protein binding|RNA binding NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|urinary_tract(1) 33 Acute lymphoblastic leukemia(192;0.000127) TTTACCTCTTCCTCCCATTCC 0.463000 49 25 0 0 1 0 0 WNT3 7473 broad.mit.edu 37 17 44851211 44851211 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:44851211G>A ENST00000225512.5 - 2 307 c.145C>T c.(145-147)Cca>Tca p.P49S NM_030753.4 NP_110380.1 P56703 WNT3_HUMAN wingless-type MMTV integration site family, member 3 49 canonical Wnt receptor signaling pathway involved in mesenchymal stem cell differentiation|canonical Wnt receptor signaling pathway involved in osteoblast differentiation|cellular response to retinoic acid|dorsal/ventral axis specification|embryonic forelimb morphogenesis|embryonic hindlimb morphogenesis|embryonic pattern specification|head morphogenesis|hemopoietic stem cell proliferation|inner ear morphogenesis|limb bud formation|mammary gland epithelium development|mesoderm formation|midbrain-hindbrain boundary development|negative regulation of fat cell differentiation|positive regulation of cell proliferation|Spemann organizer formation at the anterior end of the primitive streak|Wnt receptor signaling pathway, calcium modulating pathway early endosome|extracellular space|late endosome|membrane fraction|membrane raft|plasma membrane|proteinaceous extracellular matrix frizzled binding|frizzled-2 binding|signal transducer activity endometrium(2)|large_intestine(6)|lung(4)|prostate(1) 13 BRCA - Breast invasive adenocarcinoma(9;0.0257) ACCAGGCCTGGGATGGAGCCG 0.637000 12 38 0 0 1 0 0 TSPAN16 26526 broad.mit.edu 37 19 11417336 11417336 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:11417336G>A ENST00000316737.1 + 5 657 c.507G>A c.(505-507)atG>atA p.M169I CTC-510F12.4_ENST00000586356.1_RNA|TSPAN16_ENST00000592955.1_Missense_Mutation_p.M144I|TSPAN16_ENST00000590327.1_Missense_Mutation_p.M169I NM_012466.2 NP_036598.1 Q9UKR8 TSN16_HUMAN tetraspanin 16 169 integral to membrane breast(1)|endometrium(3)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(2)|stomach(1) 12 CCTTCGAAATGACAACGGGCC 0.468000 35 86 0 0 1 0 0 C10orf128 170371 broad.mit.edu 37 10 50396379 50396379 + Translation_Start_Site SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:50396379C>T ENST00000374148.1 - 1 57 c.3G>A c.(1-3)atG>atA p.M1I C10orf128_ENST00000374151.3_Start_Codon_SNP_p.M1I|C10orf128_ENST00000374153.2_Start_Codon_SNP_p.M1I|C10orf128_ENST00000470884.1_5'UTR|C10orf128_ENST00000474718.1_Start_Codon_SNP_p.M1I Q5T292 CJ128_HUMAN chromosome 10 open reading frame 128 1 integral to membrane breast(1)|large_intestine(1)|lung(1) 3 CCCCCAAGTTCATGCTGGCGC 0.647000 21 75 0 0 1 0 0 OR52E8 390079 broad.mit.edu 37 11 5878660 5878660 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:5878660G>A ENST00000537935.1 - 1 304 c.273C>T c.(271-273)ttC>ttT p.F91F TRIM5_ENST00000380027.1_Intron NM_001005168.1 NP_001005168.1 Q6IFG1 O52E8_HUMAN olfactory receptor, family 52, subfamily E, member 8 91 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 20 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.114) Epithelial(150;2.37e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) TATTGAACCAGAAGATGCCCA 0.468000 5 205 0 0 1 0 0 GOLGA2P5 55592 broad.mit.edu 37 12 100562789 100562789 + RNA SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:100562789G>A ENST00000397112.4 - 0 599 NR_036632.1 large_intestine(1)|lung(3) 4 GTTAAGTCAGGATATAGCAGG 0.453000 17 18 0 0 1 0 0 TBX15 6913 broad.mit.edu 37 1 119427584 119427584 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:119427584C>T ENST00000369429.3 - 8 1589 c.1580G>A c.(1579-1581)aGg>aAg p.R527K TBX15_ENST00000207157.3_Missense_Mutation_p.R421K Q96SF7 TBX15_HUMAN T-box 15 527 nucleus DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(19)|ovary(1)|pancreas(1)|skin(5) 37 all_neural(166;0.117) all_cancers(81;0.000692)|all_lung(203;3.05e-06)|Lung NSC(69;2.13e-05)|all_epithelial(167;0.000237) Lung(183;0.044)|LUSC - Lung squamous cell carcinoma(189;0.141) TGCAGCTAGCCTAGGGGAAGT 0.537000 18 49 0 0 1 0 0 RGS8 85397 broad.mit.edu 37 1 182635130 182635130 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:182635130G>A ENST00000483095.2 - 5 424 c.167C>T c.(166-168)tCc>tTc p.S56F RGS8_ENST00000258302.4_Missense_Mutation_p.S74F|RGS8_ENST00000491420.2_5'UTR|RGS8_ENST00000367556.1_Missense_Mutation_p.S56F|RGS8_ENST00000367557.4_Missense_Mutation_p.S56F P57771 RGS8_HUMAN regulator of G-protein signaling 8 56 RGS. negative regulation of signal transduction cytoplasm|plasma membrane GTPase activator activity|signal transducer activity haematopoietic_and_lymphoid_tissue(1)|ovary(1)|stomach(2)|upper_aerodigestive_tract(1) 5 CACATCAAAGGAATCTGCCCA 0.403000 17 328 0 0 1 0 0 MLLT11 10962 broad.mit.edu 37 1 151039887 151039887 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:151039887G>A ENST00000368921.3 + 2 2989 c.187G>A c.(187-189)Ggt>Agt p.G63S CDC42SE1_ENST00000439374.2_Intron NM_006818.3 NP_006809.1 Q13015 AF1Q_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 11 63 positive regulation of apoptosis|positive regulation of mitochondrial depolarization|positive regulation of release of cytochrome c from mitochondria|positive regulation of transcription, DNA-dependent upper_aerodigestive_tract(1) 1 Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211) AAACCCTGAAGGTGATGGCCT 0.527000 69 188 0 0 1 0 0 SEC23A 10484 broad.mit.edu 37 14 39524352 39524352 + Nonsense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr14:39524352G>A ENST00000537403.1 - 10 2250 c.1048C>T c.(1048-1050)Cga>Tga p.R350* SEC23A_ENST00000545328.2_Nonsense_Mutation_p.R523*|SEC23A_ENST00000307712.6_Nonsense_Mutation_p.R552*|SEC23A_ENST00000536508.1_Nonsense_Mutation_p.R426* Q15436 SC23A_HUMAN Sec23 homolog A (S. cerevisiae) 552 COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine COPII vesicle coat|cytosol|Golgi membrane|smooth endoplasmic reticulum membrane protein binding|zinc ion binding kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(1) 23 Hepatocellular(127;0.213) Lung(238;0.00047)|LUAD - Lung adenocarcinoma(48;0.000565) GBM - Glioblastoma multiforme(112;0.0151) CTTACCAGTCGAATGAGCTGT 0.413000 63 99 0 0 1 0 0 ATP1A2 477 broad.mit.edu 37 1 160100060 160100060 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:160100060G>A ENST00000361216.3 + 12 1719 c.1630G>A c.(1630-1632)Gga>Aga p.G544R ATP1A2_ENST00000472488.1_3'UTR|ATP1A2_ENST00000392233.3_Missense_Mutation_p.G544R NM_000702.3 NP_000693.1 P50993 AT1A2_HUMAN ATPase, Na+/K+ transporting, alpha 2 polypeptide 544 ATP biosynthetic process ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity p.G544R(1) NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 69 all_cancers(52;1.11e-16)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246) GGAGCTGGGGGGACTTGGGGA 0.617000 73 95 0 0 1 0 0 AGRN 375790 broad.mit.edu 37 1 982235 982235 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:982235C>T ENST00000379370.2 + 19 3336 c.3286C>T c.(3286-3288)Cct>Tct p.P1096S NM_198576.3 NP_940978.2 O00468 AGRIN_HUMAN agrin 1096 Ser/Thr-rich. axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering basal lamina laminin binding|structural constituent of cytoskeleton breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 42 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201) CGTGGCCACCCCTGGGCCACC 0.697000 6 10 0 0 1 0 0 CDH17 1015 broad.mit.edu 37 8 95189841 95189841 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:95189841C>T ENST00000027335.3 - 4 383 c.259G>A c.(259-261)Gaa>Aaa p.E87K CDH17_ENST00000441892.2_Missense_Mutation_p.E87K|CDH17_ENST00000450165.2_Missense_Mutation_p.E87K NM_004063.3 NP_004054.3 Q12864 CAD17_HUMAN cadherin 17, LI cadherin (liver-intestine) 87 Cadherin 1. integral to membrane calcium ion binding NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2) 52 Breast(36;4.65e-06) BRCA - Breast invasive adenocarcinoma(8;0.00691) GATCTTGTTTCCCTGTCCAAG 0.458000 57 138 0 0 1 0 0 ADAM12 8038 broad.mit.edu 37 10 127755363 127755363 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:127755363G>A ENST00000368679.4 - 13 1654 c.1345C>T c.(1345-1347)Cgc>Tgc p.R449C ADAM12_ENST00000467145.1_5'UTR|ADAM12_ENST00000368676.4_Missense_Mutation_p.R449C NM_003474.4 NP_003465.3 O43184 ADA12_HUMAN ADAM metallopeptidase domain 12 449 Disintegrin. cell adhesion|epidermal growth factor receptor signaling pathway|myoblast fusion|proteolysis extracellular region|integral to membrane|plasma membrane metalloendopeptidase activity|protein binding|SH3 domain binding|zinc ion binding biliary_tract(1)|breast(7)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22) COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216) TTGCAGCAGCGATTCATACAT 0.507000 25 43 0 0 1 0 0 PLA2G7 7941 broad.mit.edu 37 6 46684213 46684213 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:46684213G>A ENST00000274793.7 - 4 480 c.284C>T c.(283-285)aCc>aTc p.T95I PLA2G7_ENST00000541026.1_Intron|PLA2G7_ENST00000537365.1_Missense_Mutation_p.T95I|PLA2G7_ENST00000538237.1_Missense_Mutation_p.T50I NM_005084.3 NP_005075.3 Q13093 PAFA_HUMAN phospholipase A2, group VII (platelet-activating factor acetylhydrolase, plasma) 95 inflammatory response|lipid catabolic process extracellular space 1-alkyl-2-acetylglycerophosphocholine esterase activity|phospholipid binding endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|skin(1)|soft_tissue(1) 14 Lung(136;0.192) GATCCAAAGGGTGTCAAGGCG 0.373000 26 135 0 0 1 0 0 ANPEP 290 broad.mit.edu 37 15 90349664 90349664 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr15:90349664G>A ENST00000300060.6 - 2 464 c.151C>T c.(151-153)Ccg>Tcg p.P51S NM_001150.2 NP_001141.2 P15144 AMPN_HUMAN alanyl (membrane) aminopeptidase 51 Cytosolic Ser/Thr-rich junction. angiogenesis|cell differentiation|interspecies interaction between organisms cytosol|ER-Golgi intermediate compartment|integral to plasma membrane aminopeptidase activity|metallopeptidase activity|receptor activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3) 57 Lung NSC(78;0.0221)|all_lung(78;0.0448) BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169) Ezetimibe(DB00973) GAGGCGGACGGGGTGGTGGAG 0.622000 47 124 0 0 1 0 0 OBSCN 84033 broad.mit.edu 37 1 228492875 228492875 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:228492875G>A ENST00000570156.2 + 54 14392 c.14318G>A c.(14317-14319)gGg>gAg p.G4773E OBSCN_ENST00000284548.11_Intron|OBSCN_ENST00000366707.4_Missense_Mutation_p.G1450E|OBSCN_ENST00000422127.1_Intron|OBSCN_ENST00000366709.4_Intron NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 3816 apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) GCCACAGAAGGGGCCACGGCT 0.567000 57 66 0 0 1 0 0 SEC16B 89866 broad.mit.edu 37 1 177902430 177902430 + Nonsense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:177902430C>T ENST00000308284.6 - 22 2831 c.2742G>A c.(2740-2742)tgG>tgA p.W914* RP4-798P15.3_ENST00000528461.1_3'UTR|SEC16B_ENST00000495165.1_5'UTR|RP4-798P15.3_ENST00000354921.2_5'UTR NM_033127.2 NP_149118.2 Q96JE7 SC16B_HUMAN SEC16 homolog B (S. cerevisiae) 914 protein transport|vesicle-mediated transport endoplasmic reticulum membrane|Golgi membrane central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1) 35 ACCAGCTGAACCAGCCAAACC 0.572000 4 25 0 0 1 0 0 FNDC1 84624 broad.mit.edu 37 6 159653640 159653640 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:159653640G>A ENST00000297267.9 + 11 2296 c.2096G>A c.(2095-2097)aGg>aAg p.R699K FNDC1_ENST00000340366.6_Missense_Mutation_p.R636K NM_032532.2 NP_115921.2 Q4ZHG4 FNDC1_HUMAN fibronectin type III domain containing 1 699 Ser-rich. extracellular region NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3) 93 Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195) OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05) CCGGCCCGGAGGACCCCCCAT 0.697000 16 18 0 0 1 0 0 ARHGAP33 115703 broad.mit.edu 37 19 36271671 36271671 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:36271671C>T ENST00000007510.4 + 10 926 c.782C>T c.(781-783)cCc>cTc p.P261L ARHGAP33_ENST00000314737.5_Missense_Mutation_p.P261L|ARHGAP33_ENST00000378944.5_Missense_Mutation_p.P125L O14559 RHG33_HUMAN Rho GTPase activating protein 33 261 cell communication|protein transport|signal transduction intracellular GTPase activator activity|phosphatidylinositol binding|protein binding endometrium(7)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 37 GCCGATGGCCCCCCATGTGGC 0.642000 31 138 0 0 1 0 0 DSP 1832 broad.mit.edu 37 6 7581755 7581755 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:7581755G>A ENST00000379802.3 + 23 5673 c.5332G>A c.(5332-5334)Gaa>Aaa p.E1778K DSP_ENST00000418664.2_Intron NM_004415.2 NP_004406.2 P15924 DESP_HUMAN desmoplakin 1778 Central fibrous rod domain. cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural constituent of cytoskeleton biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5) 101 Ovarian(93;0.0584) all_hematologic(90;0.236) OV - Ovarian serous cystadenocarcinoma(45;0.000508) GAGAGAGAGGGAAAATTTGAG 0.408000 50 176 0 0 1 0 0 OR2V2 285659 broad.mit.edu 37 5 180582806 180582806 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:180582806C>T ENST00000328275.1 + 1 864 c.864C>T c.(862-864)ccC>ccT p.P288P NM_206880.1 NP_996763.1 Q96R30 OR2V2_HUMAN olfactory receptor, family 2, subfamily V, member 2 288 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 all_cancers(89;8.26e-06)|all_epithelial(37;1.02e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684) all_cancers(40;0.0103)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.0652)|all_lung(500;0.149) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) TGCTCAACCCCCTCATTTACA 0.597000 26 63 0 0 1 0 0 BRINP1 1620 broad.mit.edu 37 9 121929721 121929721 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:121929721G>A ENST00000265922.3 - 8 2388 c.1927C>T c.(1927-1929)Ccc>Tcc p.P643S DBC1_ENST00000482797.1_Intron NM_014618.2 NP_055433.2 O60477 DBC1_HUMAN 643 cell cycle arrest|cell death cytoplasm protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(15)|liver(1)|lung(34)|ovary(3)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 83 CTCTTGGAGGGATCCGACAGG 0.562000 80 182 0 0 1 0 0 ATP8A2 51761 broad.mit.edu 37 13 26156085 26156085 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr13:26156085G>A ENST00000381655.2 + 23 2278 c.2136G>A c.(2134-2136)gcG>gcA p.A712A ATP8A2_ENST00000491840.1_3'UTR|ATP8A2_ENST00000255283.8_Silent_p.A672A NM_016529.4 NP_057613.4 Q9NTI2 AT8A2_HUMAN ATPase, aminophospholipid transporter, class I, type 8A, member 2 672 ATP biosynthetic process|negative regulation of cell proliferation integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity p.A712A(1) breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1) 72 Breast(139;0.0201)|Lung SC(185;0.0225) all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079) AAGAAACTGCGATTAATATAG 0.333000 31 59 0 0 1 0 0 RAD51AP2 729475 broad.mit.edu 37 2 17696937 17696937 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:17696937C>T ENST00000399080.2 - 1 2769 c.2746G>A c.(2746-2748)Gat>Aat p.D916N NM_001099218.2 NP_001092688.1 Q09MP3 R51A2_HUMAN RAD51 associated protein 2 916 endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(10)|liver(1)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 49 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158) CTGTGAAAATCCTTTGAATTA 0.299000 16 46 0 0 1 0 0 CYP11A1 1583 broad.mit.edu 37 15 74630418 74630418 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr15:74630418G>A ENST00000358632.4 - 9 1682 c.987C>T c.(985-987)atC>atT p.I329I CYP11A1_ENST00000419019.2_Silent_p.I329I|CYP11A1_ENST00000268053.6_Silent_p.I487I NM_001099773.1 NP_001093243.1 P05108 CP11A_HUMAN cytochrome P450, family 11, subfamily A, polypeptide 1 487 C21-steroid hormone biosynthetic process|cholesterol metabolic process|vitamin D metabolic process|xenobiotic metabolic process mitochondrial matrix cholesterol monooxygenase (side-chain-cleaving) activity|electron carrier activity|heme binding breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 20 Aminoglutethimide(DB00357)|Cholecalciferol(DB00169)|Cimetidine(DB00501)|Clotrimazole(DB00257)|Digitoxin(DB01396)|Digoxin(DB00390)|Medroxyprogesterone(DB00603)|Ouabain(DB01092)|Progesterone(DB00396)|Testosterone(DB00624)|Trilostane(DB01108) TGAGGTGTTGGATTTCAACTC 0.527000 36 88 0 0 1 0 0 SERPINB2 5055 broad.mit.edu 37 18 61565055 61565055 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr18:61565055C>T ENST00000457692.1 + 6 845 c.512C>T c.(511-513)tCc>tTc p.S171F SERPINB2_ENST00000482254.1_3'UTR|SERPINB2_ENST00000299502.4_Missense_Mutation_p.S171F NM_001143818.1 NP_001137290.1 P05120 PAI2_HUMAN serpin peptidase inhibitor, clade B (ovalbumin), member 2 171 anti-apoptosis|blood coagulation|fibrinolysis|regulation of proteolysis extracellular space|Golgi apparatus|plasma membrane serine-type endopeptidase inhibitor activity p.S171F(1) NS(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|liver(1)|lung(12)|prostate(2)|skin(2)|stomach(1) 32 Esophageal squamous(42;0.131) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013) AAGATTAATTCCTGGGTCAAG 0.343000 5 68 0 0 1 0 0 GRM3 2913 broad.mit.edu 37 7 86415606 86415606 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:86415606C>T ENST00000361669.2 + 3 1597 c.498C>T c.(496-498)atC>atT p.I166I GRM3_ENST00000546348.1_Intron|GRM3_ENST00000536043.1_Silent_p.I38I|GRM3_ENST00000394720.2_Silent_p.I164I|AC005009.2_ENST00000452471.1_RNA|GRM3_ENST00000439827.1_Silent_p.I166I|AC005009.2_ENST00000418031.1_RNA NM_000840.2 NP_000831.2 Q14832 GRM3_HUMAN glutamate receptor, metabotropic 3 166 synaptic transmission integral to plasma membrane NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5) 109 Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142) Acamprosate(DB00659)|Nicotine(DB00184) TCTTCCAGATCCCTCAGATCA 0.522000 83 365 0 0 1 0 0 TDRD6 221400 broad.mit.edu 37 6 46657333 46657333 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:46657333G>A ENST00000544460.1 + 1 1722 c.1468G>A c.(1468-1470)Gat>Aat p.D490N TDRD6_ENST00000316081.6_Missense_Mutation_p.D490N NM_001168359.1 NP_001161831.1 O60522 TDRD6_HUMAN tudor domain containing 6 490 cell differentiation|multicellular organismal development|spermatogenesis chromatoid body nucleic acid binding NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 80 Lung(136;0.192) TGCCTTCTACGATGCGCAGGT 0.413000 47 127 0 0 1 0 0 TNNT2 7139 broad.mit.edu 37 1 201342331 201342331 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:201342331C>T ENST00000458432.2 - 3 116 c.48G>A c.(46-48)ctG>ctA p.L16L TNNT2_ENST00000236918.7_Intron|TNNT2_ENST00000509001.1_Intron|TNNT2_ENST00000367318.5_Intron|TNNT2_ENST00000367315.2_Intron|TNNT2_ENST00000367317.4_Intron|TNNT2_ENST00000360372.4_Intron|TNNT2_ENST00000421663.2_Silent_p.L16L|TNNT2_ENST00000367320.2_Intron|TNNT2_ENST00000367322.1_Intron NM_001276345.1 NP_001263274.1 P45379 TNNT2_HUMAN troponin T type 2 (cardiac) 14 ATP catabolic process|muscle filament sliding|negative regulation of ATPase activity|positive regulation of ATPase activity|regulation of heart contraction|response to calcium ion|ventricular cardiac muscle tissue morphogenesis cytosol|troponin complex actin binding|tropomyosin binding|troponin C binding|troponin I binding breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(9) 20 CAAGATGCTCCAGATACTCAC 0.552000 5 258 0 0 1 0 0 ELTD1 64123 broad.mit.edu 37 1 79412096 79412096 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:79412096C>T ENST00000370742.3 - 3 251 c.188G>A c.(187-189)gGa>gAa p.G63E NM_022159.3 NP_071442.2 Q9HBW9 ELTD1_HUMAN EGF, latrophilin and seven transmembrane domain containing 1 63 EGF-like 2; calcium-binding (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 69 COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148) AGTTAAATTTCCACATTCATT 0.313000 13 32 0 0 1 0 0 PTPRZ1 5803 broad.mit.edu 37 7 121636451 121636451 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:121636451C>T ENST00000393386.2 + 9 1355 c.944C>T c.(943-945)cCa>cTa p.P315L PTPRZ1_ENST00000449182.1_Missense_Mutation_p.P315L NM_001206838.1|NM_002851.2 NP_001193767.1|NP_002842.2 P23471 PTPRZ_HUMAN protein tyrosine phosphatase, receptor-type, Z polypeptide 1 315 Fibronectin type-III. central nervous system development integral to plasma membrane protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2) 106 AGTTCAGAACCAGAAAATGTT 0.343000 24 114 0 0 1 0 0 FUT9 10690 broad.mit.edu 37 6 96651139 96651139 + Nonsense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:96651139G>A ENST00000302103.5 + 3 434 c.108G>A c.(106-108)tgG>tgA p.W36* NM_006581.3 NP_006572.2 Q9Y231 FUT9_HUMAN fucosyltransferase 9 (alpha (1,3) fucosyltransferase) 36 L-fucose catabolic process|protein glycosylation Golgi cisterna membrane|integral to membrane alpha(1,3)-fucosyltransferase activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2) 34 all_cancers(76;4.77e-07)|Acute lymphoblastic leukemia(125;4.01e-09)|all_hematologic(75;1.25e-06)|all_epithelial(107;0.00279)|Colorectal(196;0.0356) BRCA - Breast invasive adenocarcinoma(108;0.08) CCAACAGCTGGATCTTCAGTC 0.393000 47 118 0 0 1 0 0 IKZF1 10320 broad.mit.edu 37 7 50468271 50468271 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:50468271G>A ENST00000331340.3 + 8 1661 c.1506G>A c.(1504-1506)cgG>cgA p.R502R IKZF1_ENST00000438033.1_Silent_p.R415R|IKZF1_ENST00000349824.4_Silent_p.R359R|IKZF1_ENST00000343574.5_Silent_p.R415R|IKZF1_ENST00000357364.4_Silent_p.R415R|IKZF1_ENST00000346667.4_Silent_p.R272R|IKZF1_ENST00000440768.2_3'UTR|IKZF1_ENST00000359197.5_Silent_p.R460R|IKZF1_ENST00000439701.1_Silent_p.R460R NM_001220769.1|NM_001220772.1|NM_001220773.1|NM_001220775.1|NM_006060.4 NP_001207698.1|NP_001207701.1|NP_001207702.1|NP_001207704.1|NP_006051.1 Q13422 IKZF1_HUMAN IKAROS family zinc finger 1 (Ikaros) 502 cell cycle|chromatin modification|mesoderm development cytoplasm|nucleus zinc ion binding p.?(28) haematopoietic_and_lymphoid_tissue(275)|lung(1) 276 Glioma(55;0.08)|all_neural(89;0.245) Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07) GCCAGGACCGGTACGAGTTCT 0.607000 """D,T""" BCL6 """ALL, DLBCL""" 9 40 0 0 1 0 0 SULT6B1 391365 broad.mit.edu 37 2 37415689 37415689 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:37415689C>T ENST00000535679.1 - 1 94 c.95G>A c.(94-96)gGg>gAg p.G32E SULT6B1_ENST00000379149.2_Missense_Mutation_p.G32E|SULT6B1_ENST00000407963.1_5'UTR|SULT6B1_ENST00000260637.3_5'UTR Q6IMI4 ST6B1_HUMAN sulfotransferase family, cytosolic, 6B, member 1 32 cytoplasm sulfotransferase activity NS(1)|breast(1)|central_nervous_system(1)|large_intestine(3)|lung(5)|ovary(1) 12 all_hematologic(82;0.248) GTAAGGAATCCCCTGATAGGT 0.418000 38 68 0 0 1 0 0 SCN7A 6332 broad.mit.edu 37 2 167298103 167298103 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:167298103C>T ENST00000409855.1 - 14 2086 c.1960G>A c.(1960-1962)Gaa>Aaa p.E654K NM_002976.3 NP_002967.2 Q01118 SCN7A_HUMAN sodium channel, voltage-gated, type VII, alpha subunit 654 muscle contraction voltage-gated sodium channel complex voltage-gated sodium channel activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1) 44 ACAAATTCTTCATAATTCTTA 0.443000 30 61 0 0 1 0 0 ZZEF1 23140 broad.mit.edu 37 17 3994118 3994118 + Silent SNP A A G TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:3994118A>G ENST00000381638.2 - 12 2044 c.1920T>C c.(1918-1920)ggT>ggC p.G640G ZZEF1_ENST00000574474.1_5'UTR NM_015113.3 NP_055928.3 O43149 ZZEF1_HUMAN zinc finger, ZZ-type with EF-hand domain 1 640 calcium ion binding|zinc ion binding central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3) 84 CAGATGAGCAACCAATCCTGT 0.388000 20 53 0 0 1 0 0 UGT3A1 133688 broad.mit.edu 37 5 35957388 35957388 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:35957388C>T ENST00000274278.3 - 5 1334 c.977G>A c.(976-978)gGa>gAa p.G326E UGT3A1_ENST00000513233.1_5'UTR|UGT3A1_ENST00000507113.1_Missense_Mutation_p.G292E|UGT3A1_ENST00000503189.1_Missense_Mutation_p.G326E NM_152404.3 NP_689617.3 Q6NUS8 UD3A1_HUMAN UDP glycosyltransferase 3 family, polypeptide A1 326 integral to membrane glucuronosyltransferase activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4) 46 all_lung(31;0.000197) Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) CCATATCACTCCTTGAGGGAG 0.507000 16 63 0 0 1 0 0 ANKRD30A 91074 broad.mit.edu 37 10 37421200 37421200 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:37421200G>A ENST00000374660.1 + 4 474 c.375G>A c.(373-375)acG>acA p.T125T ANKRD30A_ENST00000361713.1_Silent_p.T125T|ANKRD30A_ENST00000602533.1_Silent_p.T125T Q9BXX3 AN30A_HUMAN ankyrin repeat domain 30A 181 nucleus DNA binding|sequence-specific DNA binding transcription factor activity p.T125T(1) NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3) 158 TATCCATAACGAAAAGAAGTG 0.284000 38 73 0 0 1 0 0 GZMA 3001 broad.mit.edu 37 5 54405901 54405901 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:54405901C>T ENST00000274306.6 + 5 715 c.680C>T c.(679-681)tCc>tTc p.S227F NM_006144.3 NP_006135.1 P12544 GRAA_HUMAN granzyme A (granzyme 1, cytotoxic T-lymphocyte-associated serine esterase 3) 227 Peptidase S1. cleavage of lamin|cytolysis|immune response|negative regulation of DNA binding|negative regulation of endodeoxyribonuclease activity|negative regulation of oxidoreductase activity|positive regulation of apoptosis extracellular region|immunological synapse|nucleus protein homodimerization activity|serine-type endopeptidase activity NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 25 Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.183) GGGGTCACTTCCTTTGGCCTT 0.483000 47 77 0 0 1 0 0 OAS3 4940 broad.mit.edu 37 12 113386708 113386708 + Nonsense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:113386708C>T ENST00000228928.7 + 6 1251 c.1072C>T c.(1072-1074)Cag>Tag p.Q358* RP1-71H24.1_ENST00000552784.1_RNA NM_006187.2 NP_006178.2 Q9Y6K5 OAS3_HUMAN 2'-5'-oligoadenylate synthetase 3, 100kDa 358 Linker. interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway microsome ATP binding|nucleotidyltransferase activity|RNA binding breast(3)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|skin(2) 27 CCACCCCATCCAGCTAGACCC 0.587000 13 13 0 0 1 0 0 CC2D1A 54862 broad.mit.edu 37 19 14037523 14037523 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:14037523C>T ENST00000318003.7 + 19 2299 c.2058C>T c.(2056-2058)ttC>ttT p.F686F CC2D1A_ENST00000589606.1_Silent_p.F686F NM_017721.4 NP_060191.3 Q6P1N0 C2D1A_HUMAN coiled-coil and C2 domain containing 1A 686 C2. positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus|plasma membrane DNA binding|signal transducer activity NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(2)|skin(2) 27 OV - Ovarian serous cystadenocarcinoma(19;3.49e-23) GGTTTGACTTCCCCTATCCCA 0.622000 11 214 0 0 1 0 0 GPRIN3 285513 broad.mit.edu 37 4 90169876 90169876 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:90169876G>A ENST00000333209.3 - 2 1904 c.1386C>T c.(1384-1386)tcC>tcT p.S462S NM_198281.2 NP_938022.2 Q6ZVF9 GRIN3_HUMAN GPRIN family member 3 462 breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|prostate(2)|skin(1) 36 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;5.67e-05) TAGCTTTCAGGGAGCTAGAAT 0.458000 33 87 0 0 1 0 0 RBM15B 29890 broad.mit.edu 37 3 51430741 51430741 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:51430741G>A ENST00000323686.4 + 1 2011 c.1911G>A c.(1909-1911)aaG>aaA p.K637K NM_013286.4 NP_037418.3 Q8NDT2 RB15B_HUMAN RNA binding motif protein 15B 637 interspecies interaction between organisms|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent nucleoplasm nucleotide binding|protein binding|RNA binding endometrium(4)|large_intestine(5)|lung(3) 12 BRCA - Breast invasive adenocarcinoma(193;0.000224)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716) GCAGCCGCAAGGAGAACCACT 0.632000 13 15 0 0 1 0 0 IGKV1-9 28941 broad.mit.edu 37 2 89309623 89309623 + RNA SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:89309623C>T ENST00000493819.1 - 0 264 CAGCATAGATCAGGAGCTTAG 0.527000 79 175 0 0 1 0 0 FGF5 2250 broad.mit.edu 37 4 81207702 81207702 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:81207702C>T ENST00000312465.7 + 3 909 c.683C>T c.(682-684)tCt>tTt p.S228F FGF5_ENST00000456523.3_3'UTR|FGF5_ENST00000503413.1_3'UTR NM_004464.3 NP_004455.2 P12034 FGF5_HUMAN fibroblast growth factor 5 228 cell proliferation|cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of cell division|positive regulation of cell proliferation extracellular space fibroblast growth factor receptor binding|growth factor activity breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 22 CCAGAACTTTCTTTCACGGTT 0.478000 37 126 0 0 1 0 0 ZNF263 10127 broad.mit.edu 37 16 3336086 3336086 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr16:3336086C>T ENST00000219069.5 + 4 1582 c.706C>T c.(706-708)Cct>Tct p.P236S ZNF263_ENST00000573578.1_3'UTR|ZNF263_ENST00000538765.1_Intron|ZNF263_ENST00000574253.1_Intron NM_005741.4 NP_005732.2 O14978 ZN263_HUMAN zinc finger protein 263 236 KRAB. viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|skin(4)|urinary_tract(3) 20 GCATCAGGATCCTAGTAAGAG 0.532000 41 152 0 0 1 0 0 CHD6 84181 broad.mit.edu 37 20 40084453 40084453 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr20:40084453G>A ENST00000373233.3 - 19 3173 c.2996C>T c.(2995-2997)tCc>tTc p.S999F CHD6_ENST00000309279.7_Intron NM_032221.3 NP_115597.3 Q8TD26 CHD6_HUMAN chromodomain helicase DNA binding protein 6 999 chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9) 129 Myeloproliferative disorder(115;0.00425) GGCAAAAGTGGACCCTTTCCC 0.483000 99 220 0 0 1 0 0 DCDC1 341019 broad.mit.edu 37 11 31329277 31329277 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:31329277C>T ENST00000597505.1 - 2 342 c.343G>A c.(343-345)Gat>Aat p.D115N RP1-296L11.1_ENST00000528872.1_RNA|DCDC1_ENST00000452803.1_Missense_Mutation_p.D115N P59894 DCDC1_HUMAN doublecortin domain containing 1 115 intracellular signal transduction central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1) 31 Lung SC(675;0.225) TTGTAGCTATCTAGGTCTGAT 0.418000 93 195 0 0 1 0 0 CEACAM5 1048 broad.mit.edu 37 19 42218936 42218936 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:42218936G>A ENST00000221992.6 + 3 585 c.471G>A c.(469-471)gtG>gtA p.V157V CEACAM5_ENST00000405816.1_Silent_p.V157V|CEACAM5_ENST00000398599.4_Silent_p.V157V|CEA_ENST00000598976.1_Intron NM_004363.2 NP_004354.2 P06731 CEAM5_HUMAN carcinoembryonic antigen-related cell adhesion molecule 5 157 Ig-like 2. anchored to membrane|basolateral plasma membrane|integral to plasma membrane breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1) 34 OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142) CCAAACCCGTGGAGGACAAGG 0.562000 5 268 0 0 1 0 0 TLR10 81793 broad.mit.edu 37 4 38775251 38775251 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:38775251G>A ENST00000308973.4 - 4 2566 c.1961C>T c.(1960-1962)cCc>cTc p.P654L TLR10_ENST00000508334.1_Missense_Mutation_p.P654L|TLR10_ENST00000361424.2_Missense_Mutation_p.P654L|TLR10_ENST00000506111.1_Missense_Mutation_p.P654L NM_001017388.2|NM_001195107.1|NM_030956.3 NP_001017388.1|NP_001182036.1|NP_112218.2 Q9BXR5 TLR10_HUMAN toll-like receptor 10 654 TIR. inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway integral to membrane|plasma membrane transmembrane receptor activity breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(2) 25 CTCTAGATTGGGGATCAATTC 0.378000 23 61 0 0 1 0 0 PCLO 27445 broad.mit.edu 37 7 82579668 82579668 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:82579668C>T ENST00000423517.2 - 6 10573 c.10236G>A c.(10234-10236)aaG>aaA p.K3412K PCLO_ENST00000333891.8_Silent_p.K3412K|PCLO_ENST00000437081.1_Silent_p.K132K NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 3343 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 CAGAACTTCTCTTTTTGGGTT 0.418000 6 160 0 0 1 0 0 ZSWIM3 140831 broad.mit.edu 37 20 44505869 44505869 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr20:44505869C>T ENST00000255152.2 + 2 881 c.672C>T c.(670-672)caC>caT p.H224H ZSWIM3_ENST00000454862.2_Silent_p.H218H NM_080752.3 NP_542790.2 Q96MP5 ZSWM3_HUMAN zinc finger, SWIM-type containing 3 224 zinc ion binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(2) 35 Myeloproliferative disorder(115;0.0122) TCTTGCTACACCGGGTGGAGA 0.557000 41 109 0 0 1 0 0 PCDHGA4 56111 broad.mit.edu 37 5 140736284 140736284 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:140736284C>T ENST00000571252.1 + 1 1517 c.1517C>T c.(1516-1518)tCc>tTc p.S506F PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron NM_018917.2 NP_061740.1 endometrium(1)|kidney(1)|lung(3) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TCCTATGTCTCCATCAACTCC 0.517000 75 171 0 0 1 0 0 OR2B2 81697 broad.mit.edu 37 6 27879672 27879672 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:27879672G>A ENST00000303324.2 - 1 502 c.426C>T c.(424-426)ttC>ttT p.F142F NM_033057.2 NP_149046.2 Q9GZK3 OR2B2_HUMAN olfactory receptor, family 2, subfamily B, member 2 142 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(4)|large_intestine(5)|lung(10)|prostate(1)|urinary_tract(1) 22 CTGCCAACTGGAAGCAGAGCC 0.473000 13 198 0 0 1 0 0 FAIM3 9214 broad.mit.edu 37 1 207078371 207078371 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:207078371G>A ENST00000367091.3 - 8 1309 c.1166C>T c.(1165-1167)cCt>cTt p.P389L FAIM3_ENST00000528654.1_5'UTR|FAIM3_ENST00000420007.2_3'UTR|FAIM3_ENST00000442471.2_Missense_Mutation_p.P277L NM_005449.4 NP_005440.1 O60667 FAIM3_HUMAN Fas apoptotic inhibitory molecule 3 389 anti-apoptosis|cellular defense response integral to membrane breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(5)|skin(1)|upper_aerodigestive_tract(1) 15 Breast(84;0.201) TTGTCAGGCAGGAACATTGAT 0.537000 11 190 0 0 1 0 0 RICTOR 253260 broad.mit.edu 37 5 38962433 38962433 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:38962433C>T ENST00000357387.3 - 19 1729 c.1699G>A c.(1699-1701)Gat>Aat p.D567N RICTOR_ENST00000296782.5_Missense_Mutation_p.D567N NM_152756.3 NP_689969.2 Q6R327 RICTR_HUMAN RPTOR independent companion of MTOR, complex 2 567 actin cytoskeleton reorganization|embryo development|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|regulation of protein kinase B signaling cascade|T cell costimulation cytosol|TORC2 complex protein binding NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5) 75 all_lung(31;0.000396) AACTGTTCATCTTTATAGTTT 0.244000 12 169 0 0 1 0 0 EGR3 1960 broad.mit.edu 37 8 22548239 22548239 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:22548239G>A ENST00000317216.2 - 2 1268 c.911C>T c.(910-912)cCc>cTc p.P304L EGR3_ENST00000522910.1_Missense_Mutation_p.P266L|EGR3_ENST00000524088.1_5'UTR|EGR3_ENST00000519492.1_3'UTR|RP11-459E5.1_ENST00000523627.1_RNA NM_001199881.1|NM_004430.2 NP_001186810.1|NP_004421.2 Q06889 EGR3_HUMAN early growth response 3 304 circadian rhythm|muscle organ development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 10 Prostate(55;0.0421)|Breast(100;0.102) Colorectal(74;0.0145)|BRCA - Breast invasive adenocarcinoma(99;0.053)|COAD - Colon adenocarcinoma(73;0.0608) GCACTGGAAGGGCTTGTGGCC 0.677000 14 108 0 0 1 0 0 KIFC2 90990 broad.mit.edu 37 8 145692437 145692437 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:145692437C>T ENST00000301332.2 + 3 651 c.274C>T c.(274-276)Ctc>Ttc p.L92F NM_145754.2 NP_665697.1 Q96AC6 KIFC2_HUMAN kinesin family member C2 92 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity|protein binding central_nervous_system(1)|endometrium(1)|kidney(1)|lung(7)|ovary(3)|prostate(3)|skin(2)|urinary_tract(1) 19 all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055) CGCCGAGTTCCTCTCCGTCCA 0.756000 OREG0019057 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 20 15 0 0 1 0 0 RPGRIP1 57096 broad.mit.edu 37 14 21796744 21796744 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr14:21796744G>A ENST00000206660.6 + 18 3057 c.3057G>A c.(3055-3057)atG>atA p.M1019I RPGRIP1_ENST00000382933.4_Missense_Mutation_p.M345I|RPGRIP1_ENST00000400017.2_Missense_Mutation_p.M1019I|RPGRIP1_ENST00000307974.4_Missense_Mutation_p.M378I|RPGRIP1_ENST00000557771.1_Missense_Mutation_p.M981I|RPGRIP1_ENST00000556336.1_Missense_Mutation_p.M676I Q96KN7 RPGR1_HUMAN retinitis pigmentosa GTPase regulator interacting protein 1 1019 Interaction with RPGR. response to stimulus|visual perception cilium breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1) 39 all_cancers(95;0.0017) all_cancers(140;0.0973) Epithelial(56;6.24e-07)|all cancers(55;6.56e-06) GBM - Glioblastoma multiforme(265;0.00888) AGAATAGAATGGAGTATCTTA 0.408000 36 68 0 0 1 0 0 YTHDC2 64848 broad.mit.edu 37 5 112878086 112878086 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:112878086C>T ENST00000161863.4 + 10 1594 c.1381C>T c.(1381-1383)Ctt>Ttt p.L461F YTHDC2_ENST00000515883.1_Missense_Mutation_p.L461F NM_022828.3 NP_073739.3 Q9H6S0 YTDC2_HUMAN YTH domain containing 2 461 ATP binding|ATP-dependent helicase activity|nucleic acid binding NS(2)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(13)|lung(10)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 43 all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244) OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594) TGTGAATTGCCTTGAACCATG 0.323000 5 206 0 0 1 0 0 SALL4 57167 broad.mit.edu 37 20 50408325 50408325 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr20:50408325C>T ENST00000217086.4 - 2 808 c.697G>A c.(697-699)Gag>Aag p.E233K SALL4_ENST00000371539.3_Intron|SALL4_ENST00000395997.3_Missense_Mutation_p.E233K NM_020436.3 NP_065169.1 Q9UJQ4 SALL4_HUMAN spalt-like transcription factor 4 233 transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 CGGATCTGCTCGGTGAGCTGG 0.632000 44 87 0 0 1 0 0 DCST2 127579 broad.mit.edu 37 1 155005616 155005616 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:155005616C>T ENST00000368424.3 - 2 451 c.393G>A c.(391-393)ctG>ctA p.L131L DCST2_ENST00000295536.5_Silent_p.L131L NM_144622.2 NP_653223.2 Q5T1A1 DCST2_HUMAN DC-STAMP domain containing 2 131 integral to membrane breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|prostate(1)|skin(1) 38 all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) BRCA - Breast invasive adenocarcinoma(34;0.00034) CGGTCTGGTTCAGGGCCAGCT 0.627000 18 21 0 0 1 0 0 EFS 10278 broad.mit.edu 37 14 23828102 23828102 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr14:23828102C>T ENST00000216733.3 - 5 1841 c.1234G>A c.(1234-1236)Ggg>Agg p.G412R EFS_ENST00000429593.2_Missense_Mutation_p.G243R|EFS_ENST00000351354.3_Missense_Mutation_p.G319R NM_005864.2 NP_005855.1 O43281 EFS_HUMAN embryonal Fyn-associated substrate 412 cell adhesion|intracellular signal transduction cytoplasm SH3 domain binding endometrium(2)|kidney(1)|large_intestine(1)|liver(1)|lung(5)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2) 16 all_cancers(95;7.12e-06) GBM - Glioblastoma multiforme(265;0.00649) GCCGGCATCCCCCTCTCGGGC 0.637000 45 79 0 0 1 0 0 C1orf168 199920 broad.mit.edu 37 1 57219580 57219580 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:57219580C>T ENST00000343433.6 - 8 1239 c.1159G>A c.(1159-1161)Gaa>Aaa p.E387K C1orf168_ENST00000484327.1_Intron NM_001004303.4 NP_001004303.3 Q5VWT5 CA168_HUMAN chromosome 1 open reading frame 168 387 NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2) 46 GGTTGTTTTTCCTTCATTTTT 0.338000 24 67 0 0 1 0 0 ZNF404 342908 broad.mit.edu 37 19 44377692 44377692 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:44377692C>T ENST00000587539.1 - 3 673 c.674G>A c.(673-675)aGa>aAa p.R225K ZNF404_ENST00000324394.6_Missense_Mutation_p.R223K NM_001033719.2 NP_001028891.2 Q494X3 ZN404_HUMAN zinc finger protein 404 225 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|skin(1)|stomach(2)|urinary_tract(1) 17 Prostate(69;0.0352) AGAATGACGTCTAAAAGCCTT 0.378000 10 171 0 0 1 0 0 ZNF665 79788 broad.mit.edu 37 19 53669525 53669525 + Missense_Mutation SNP A A C TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:53669525A>C ENST00000600412.1 - 2 138 c.23T>G c.(22-24)gTg>gGg p.V8G ZNF665_ENST00000396424.3_Missense_Mutation_p.V73G Q9H7R5 ZN665_HUMAN zinc finger protein 665 8 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 35 GBM - Glioblastoma multiforme(134;0.0196) CTCCAACTTCACCGTGTAGAA 0.403000 115 185 0 0 1 0 0 TRAJ27 28728 broad.mit.edu 37 14 22985274 22985274 + RNA SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr14:22985274C>T ENST00000390510.1 + 0 24 GGCAAATCAACCTTTGGGGAT 0.458000 95 179 0 0 1 0 0 GMEB2 26205 broad.mit.edu 37 20 62221725 62221725 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr20:62221725G>A ENST00000266068.1 - 9 1788 c.1310C>T c.(1309-1311)tCc>tTc p.S437F GMEB2_ENST00000370069.1_Missense_Mutation_p.S386F|GMEB2_ENST00000370077.1_Missense_Mutation_p.S437F Q9UKD1 GMEB2_HUMAN glucocorticoid modulatory element binding protein 2 437 regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter cytoplasm|nucleus DNA binding|metal ion binding breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1) 18 all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13) Epithelial(9;4.79e-09)|all cancers(9;2.76e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)|OV - Ovarian serous cystadenocarcinoma(5;0.0114) GGTGGAGCCGGAAGAGGCCAA 0.697000 5 21 0 0 1 0 0 OR8D1 283159 broad.mit.edu 37 11 124180141 124180141 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:124180141G>A ENST00000357821.2 - 1 592 c.522C>T c.(520-522)atC>atT p.I174I NM_001002917.1 NP_001002917.1 Q8WZ84 OR8D1_HUMAN olfactory receptor, family 8, subfamily D, member 1 174 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity kidney(1)|large_intestine(1)|lung(7)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528) AGTAATGGTTGATAATGTGGG 0.458000 29 29 0 0 1 0 0 DSE 29940 broad.mit.edu 37 6 116757618 116757618 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:116757618C>T ENST00000331677.3 + 7 2431 c.1987C>T c.(1987-1989)Ctc>Ttc p.L663F DSE_ENST00000537543.1_Missense_Mutation_p.L682F|DSE_ENST00000452085.3_Missense_Mutation_p.L663F|DSE_ENST00000359564.2_Missense_Mutation_p.L663F Q9UL01 DSE_HUMAN dermatan sulfate epimerase 663 dermatan sulfate biosynthetic process endoplasmic reticulum|Golgi apparatus|integral to membrane chondroitin-glucuronate 5-epimerase activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 35 all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234) Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262) GGCAGCTTACCTCTTCATAGG 0.512000 90 45 0 0 1 0 0 VPS39 23339 broad.mit.edu 37 15 42459656 42459656 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr15:42459656G>A ENST00000318006.5 - 13 1475 c.1313C>T c.(1312-1314)aCc>aTc p.T438I VPS39_ENST00000348544.4_Missense_Mutation_p.T449I NM_015289.2 NP_056104.2 Q96JC1 VPS39_HUMAN vacuolar protein sorting 39 homolog (S. cerevisiae) 449 protein transport HOPS complex|late endosome membrane|lysosomal membrane small GTPase regulator activity breast(2)|kidney(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 all_cancers(109;6.78e-16)|all_epithelial(112;1.81e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152) GBM - Glioblastoma multiforme(94;3.05e-06) GGATTTGATGGTGGGAGTGCC 0.493000 31 58 0 0 1 0 0 CCR4 1233 broad.mit.edu 37 3 32994989 32994989 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:32994989C>T ENST00000330953.5 + 2 243 c.75C>T c.(73-75)atC>atT p.I25I NM_005508.4 NP_005499.1 P51679 CCR4_HUMAN chemokine (C-C motif) receptor 4 25 chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response integral to plasma membrane NS(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)|stomach(1) 16 ATGAAAGTATCCCCAAGCCTT 0.453000 42 81 0 0 1 0 0 MYO18B 84700 broad.mit.edu 37 22 26239706 26239706 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr22:26239706C>T ENST00000335473.7 + 18 3463 c.3213C>T c.(3211-3213)tcC>tcT p.S1071S MYO18B_ENST00000536101.1_Silent_p.S1071S|MYO18B_ENST00000407587.2_Silent_p.S1072S NM_032608.5 NP_115997.5 Q8IUG5 MY18B_HUMAN myosin XVIIIB 1071 Myosin head-like. nucleus|sarcomere|unconventional myosin complex actin binding|ATP binding|motor activity NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 146 TTCCAGGGTCCTCTGCCCTGC 0.577000 55 104 0 0 1 0 0 GDF10 2662 broad.mit.edu 37 10 48429259 48429259 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:48429259G>A ENST00000224605.2 - 2 892 c.627C>T c.(625-627)atC>atT p.I209I NM_004962.3 NP_004953.1 P55107 BMP3B_HUMAN growth differentiation factor 10 209 growth|skeletal system development|transforming growth factor beta receptor signaling pathway extracellular space cytokine activity|growth factor activity central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(20)|skin(1) 31 CCGCCTTGACGATGGGGGAGA 0.736000 15 31 0 0 1 0 0 BCRP7 100133163 broad.mit.edu 37 22 18844888 18844888 + RNA SNP A A G TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr22:18844888A>G ENST00000412938.1 + 0 3138 GCTCACGGAAATACAGCTTCA 0.587000 6 219 0 0 1 0 0 BTN3A1 11119 broad.mit.edu 37 6 26413872 26413872 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:26413872C>T ENST00000289361.6 + 10 1862 c.1494C>T c.(1492-1494)ttC>ttT p.F498F BTN3A1_ENST00000414912.2_Silent_p.F446F NM_001145008.1|NM_001145009.1|NM_007048.5 NP_001138480.1|NP_001138481.1|NP_008979.3 O00481 BT3A1_HUMAN butyrophilin, subfamily 3, member A1 498 B30.2/SPRY. lipid metabolic process integral to membrane breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 28 ATCCTGTTTTCAGAATTTTGA 0.453000 42 131 0 0 1 0 0 EGFLAM 133584 broad.mit.edu 37 5 38406956 38406956 + Silent SNP A A C TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:38406956A>C ENST00000322350.5 + 8 1201 c.855A>C c.(853-855)ggA>ggC p.G285G EGFLAM_ENST00000336740.6_Silent_p.G51G|EGFLAM_ENST00000354891.3_Silent_p.G285G|EGFLAM_ENST00000397202.2_Intron NM_152403.3 NP_689616.2 Q63HQ2 EGFLA_HUMAN EGF-like, fibronectin type III and laminin G domains 285 cell junction|proteinaceous extracellular matrix|synapse NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 85 all_lung(31;0.000385) CTACCAAAGGAGGGAATAAGA 0.423000 33 158 0 0 1 0 0 TUBAL3 79861 broad.mit.edu 37 10 5443049 5443049 + Splice_Site SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:5443049C>T ENST00000380419.3 - 2 42 c.3_splice c.e2-1 p.R2_splice TUBAL3_ENST00000479328.1_Intron NM_024803.2 NP_079079.1 A6NHL2 TBAL3_HUMAN tubulin, alpha-like 3 2 microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|structural molecule activity breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(7)|prostate(2)|skin(3) 25 AAGGCACTCCCTCTAAAATAA 0.483000 43 71 0 0 1 0 0 OR1J2 26740 broad.mit.edu 37 9 125273251 125273251 + Silent SNP C C T rs140585563 TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:125273251C>T ENST00000335302.5 + 1 171 c.171C>T c.(169-171)acC>acT p.T57T NM_054107.1 NP_473448.1 Q8NGS2 OR1J2_HUMAN olfactory receptor, family 1, subfamily J, member 2 57 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(7)|stomach(1) 26 ACCTTCACACCCCCATGTACT 0.522000 53 183 0 0 1 0 0 OR2A2 442361 broad.mit.edu 37 7 143807483 143807483 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:143807483G>A ENST00000408979.2 + 1 877 c.808G>A c.(808-810)Gag>Aag p.E270K NM_001005480.2 NP_001005480.2 Q6IF42 OR2A2_HUMAN olfactory receptor, family 2, subfamily A, member 2 270 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)|skin(4) 22 Melanoma(164;0.0783) AGAGGAGCAGGAGAAAATGCT 0.517000 95 373 0 0 1 0 0 DNAH6 1768 broad.mit.edu 37 2 84800672 84800672 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:84800672G>A ENST00000389394.3 + 12 2022 c.1885G>A c.(1885-1887)Gaa>Aaa p.E629K DNAH6_ENST00000237449.6_Missense_Mutation_p.E629K|DNAH6_ENST00000398278.2_Missense_Mutation_p.E629K NM_001370.1 NP_001361.1 Q9C0G6 DYH6_HUMAN dynein, axonemal, heavy chain 6 629 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity NS(2)|breast(9)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 57 CAAGGAAAATGAAAGTCTTGA 0.343000 57 106 0 0 1 0 0 NPR1 4881 broad.mit.edu 37 1 153661520 153661520 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:153661520G>A ENST00000368680.3 + 16 2981 c.2509G>A c.(2509-2511)Gca>Aca p.A837T NM_000906.3 NP_000897.3 P16066 ANPRA_HUMAN natriuretic peptide receptor A/guanylate cyclase A (atrionatriuretic peptide receptor A) 837 body fluid secretion|intracellular signal transduction|negative regulation of angiogenesis|negative regulation of cell growth|positive regulation of renal sodium excretion|positive regulation of urine volume|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size|regulation of vascular permeability|regulation of vasodilation ATP binding|GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|peptide receptor activity, G-protein coupled|protein kinase activity NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(17)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 42 all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Nesiritide(DB04899)|Nitric Oxide(DB00435)|Nitroglycerin(DB00727)|Nitroprusside(DB00325) GCGGACCCAGGCATACCTGGA 0.617000 80 265 0 0 1 0 0 CAPN5 726 broad.mit.edu 37 11 76825474 76825474 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:76825474C>T ENST00000278559.3 + 5 882 c.693C>T c.(691-693)tcC>tcT p.S231S CAPN5_ENST00000456580.2_Silent_p.S271S|CAPN5_ENST00000531028.1_Intron|CAPN5_ENST00000529629.1_Silent_p.S231S NM_004055.4 NP_004046.2 O15484 CAN5_HUMAN calpain 5 231 Calpain catalytic. proteolysis|signal transduction intracellular calcium-dependent cysteine-type endopeptidase activity NS(1)|breast(2)|endometrium(2)|large_intestine(7)|lung(17)|urinary_tract(1) 30 TCAGTGCCTCCATCAAGGTGA 0.587000 OREG0021255 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 11 283 0 0 1 0 0 NLRP3 114548 broad.mit.edu 37 1 247586554 247586554 + Silent SNP G G A rs149161277 TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:247586554G>A ENST00000366497.2 + 3 1086 c.306G>A c.(304-306)tcG>tcA p.S102S NLRP3_ENST00000391827.2_Silent_p.S102S|NLRP3_ENST00000366496.2_Silent_p.S102S|NLRP3_ENST00000336119.3_Silent_p.S102S|NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000348069.2_Silent_p.S102S|NLRP3_ENST00000391828.3_Silent_p.S102S NM_001127461.2 NP_001120933.1 Q96P20 NALP3_HUMAN NLR family, pyrin domain containing 3 102 detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction cytoplasm ATP binding|peptidoglycan binding|protein binding p.S102S(1) NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 142 all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.0172) OV - Ovarian serous cystadenocarcinoma(106;0.0141) CACGTGTTTCGAATCCCACTG 0.398000 113 135 0 0 1 0 0 TRIM46 80128 broad.mit.edu 37 1 155148695 155148695 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:155148695C>T ENST00000392451.2 + 3 740 c.657C>T c.(655-657)tcC>tcT p.S219S TRIM46_ENST00000543729.1_Silent_p.S226S|TRIM46_ENST00000468878.1_3'UTR|TRIM46_ENST00000368382.1_Silent_p.S196S|TRIM46_ENST00000368383.3_Silent_p.S219S|TRIM46_ENST00000334634.4_Silent_p.S219S|TRIM46_ENST00000545012.1_Silent_p.S93S|TRIM46_ENST00000368385.4_Silent_p.S219S Q7Z4K8 TRI46_HUMAN tripartite motif containing 46 219 intracellular zinc ion binding NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 29 all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) Epithelial(20;6.62e-10)|all cancers(21;2.68e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193) CTACCCTCTCCTTCCGACCCA 0.637000 7 100 0 0 1 0 0 CYSLTR1 10800 broad.mit.edu 37 X 77528457 77528457 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chrX:77528457C>T ENST00000373304.3 - 3 1079 c.787G>A c.(787-789)Gaa>Aaa p.E263K NM_006639.2 NP_006630.1 Q9Y271 CLTR1_HUMAN cysteinyl leukotriene receptor 1 263 elevation of cytosolic calcium ion concentration|respiratory gaseous exchange integral to plasma membrane|membrane fraction leukotriene receptor activity endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1) 14 Amlexanox(DB01025)|Cinalukast(DB00587)|Montelukast(DB00471)|Nedocromil(DB00716)|Pranlukast(DB01411)|Zafirlukast(DB00549) GGTTTAGTTTCATTGTGTAAA 0.408000 52 23 0 0 1 0 0 RBFOX1 54715 broad.mit.edu 37 16 7645641 7645641 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr16:7645641G>A ENST00000340209.4 + 5 871 c.574G>A c.(574-576)Gag>Aag p.E192K RBFOX1_ENST00000553186.1_Missense_Mutation_p.E187K|RBFOX1_ENST00000535565.2_Intron|RBFOX1_ENST00000311745.5_Missense_Mutation_p.E207K|RBFOX1_ENST00000436368.2_Missense_Mutation_p.E207K|RBFOX1_ENST00000547372.1_Missense_Mutation_p.E230K|RBFOX1_ENST00000550418.1_Missense_Mutation_p.E187K|RBFOX1_ENST00000552089.1_Missense_Mutation_p.E204K|RBFOX1_ENST00000355637.4_Missense_Mutation_p.E207K|RBFOX1_ENST00000547338.1_Missense_Mutation_p.E187K|RBFOX1_ENST00000422070.4_Missense_Mutation_p.E230K Q9NWB1 RFOX1_HUMAN RNA binding protein, fox-1 homolog (C. elegans) 1 187 RRM. mRNA processing|RNA splicing|RNA transport nucleus|trans-Golgi network nucleotide binding|protein C-terminus binding|RNA binding p.E207K(2) breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2) 55 CCGTAAAATCGAGGTGCATGT 0.448000 50 110 0 0 1 0 0 TGM7 116179 broad.mit.edu 37 15 43584919 43584919 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr15:43584919G>A ENST00000452443.2 - 3 431 c.427C>T c.(427-429)Cct>Tct p.P143S NM_052955.2 NP_443187.1 Q96PF1 TGM7_HUMAN transglutaminase 7 143 peptide cross-linking acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(2)|prostate(4)|skin(1) 39 all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;9.14e-07) L-Glutamine(DB00130) GGACTCCAAGGGTTAAAAAGT 0.463000 6 188 0 0 1 0 0 RUNX1T1 862 broad.mit.edu 37 8 93023292 93023292 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:93023292G>A ENST00000523629.1 - 5 950 c.496C>T c.(496-498)Cat>Tat p.H166Y RUNX1T1_ENST00000520724.1_Missense_Mutation_p.H129Y|RUNX1T1_ENST00000360348.2_Missense_Mutation_p.H129Y|RUNX1T1_ENST00000396218.1_Missense_Mutation_p.H139Y|RUNX1T1_ENST00000265814.3_Missense_Mutation_p.H166Y|RUNX1T1_ENST00000521553.1_Missense_Mutation_p.H129Y|RUNX1T1_ENST00000518844.1_Missense_Mutation_p.H139Y|RUNX1T1_ENST00000422361.2_Missense_Mutation_p.H129Y|RUNX1T1_ENST00000436581.2_Missense_Mutation_p.H177Y NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2 NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1 Q06455 MTG8_HUMAN runt-related transcription factor 1; translocated to, 1 (cyclin D-related) 166 TAFH. generation of precursor metabolites and energy nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2) 86 BRCA - Breast invasive adenocarcinoma(11;0.0141) AGTTTGGAATGAAATTCTTCA 0.318000 26 85 0 0 1 0 0 TLN2 83660 broad.mit.edu 37 15 63044532 63044532 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr15:63044532C>T ENST00000561311.1 + 34 4468 c.4238C>T c.(4237-4239)tCa>tTa p.S1413L TLN2_ENST00000306829.6_Missense_Mutation_p.S1413L Q9Y4G6 TLN2_HUMAN talin 2 1413 cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse actin binding|insulin receptor binding|structural constituent of cytoskeleton NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5) 99 GCAGGGATTTCACAGAATGCC 0.542000 12 117 0 0 1 0 0 ERN1 2081 broad.mit.edu 37 17 62135252 62135252 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:62135252G>A ENST00000433197.2 - 12 1403 c.1308C>T c.(1306-1308)ccC>ccT p.P436P NM_001433.3 NP_001424.3 O75460 ERN1_HUMAN endoplasmic reticulum to nucleus signaling 1 436 activation of signaling protein activity involved in unfolded protein response|apoptosis|cell cycle arrest|induction of apoptosis|mRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent integral to endoplasmic reticulum membrane ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein binding|protein serine/threonine kinase activity central_nervous_system(4)|kidney(1)|lung(2)|ovary(1)|stomach(1) 9 TGGAGTCCACGGGGGCCTCGG 0.582000 10 49 0 0 1 0 0 HCFC1 3054 broad.mit.edu 37 X 153224141 153224141 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chrX:153224141G>A ENST00000310441.7 - 10 2648 c.1682C>T c.(1681-1683)cCt>cTt p.P561L HCFC1_ENST00000369984.4_Missense_Mutation_p.P561L|HCFC1_ENST00000354233.3_Missense_Mutation_p.P492L NM_005334.2 NP_005325.2 P51610 HCFC1_HUMAN host cell factor C1 (VP16-accessory protein) 561 cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) TGCCGAGGAAGGGGGGATCTT 0.647000 42 18 0 0 1 0 0 MRC2 9902 broad.mit.edu 37 17 60768316 60768316 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:60768316C>T ENST00000303375.5 + 28 4421 c.4019C>T c.(4018-4020)aCt>aTt p.T1340I MRC2_ENST00000446119.2_Missense_Mutation_p.T206I NM_006039.4 NP_006030.2 Q9UBG0 MRC2_HUMAN mannose receptor, C type 2 1340 C-type lectin 8. endocytosis integral to membrane receptor activity|sugar binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3) 53 GCAGGAGGCACTCTGGTCTGG 0.612000 14 25 0 0 1 0 0 ZNF257 113835 broad.mit.edu 37 19 22271836 22271836 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:22271836G>A ENST00000594947.1 + 4 1428 c.1284G>A c.(1282-1284)gaG>gaA p.E428E NM_033468.2 NP_258429.2 Q9Y2Q1 ZN257_HUMAN zinc finger protein 257 428 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding haematopoietic_and_lymphoid_tissue(2)|lung(4) 6 all_lung(12;0.0961)|Lung NSC(12;0.103) ATACTGGAGAGAAACCCTACA 0.393000 21 52 0 0 1 0 0 PRUNE2 158471 broad.mit.edu 37 9 79320428 79320428 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:79320428G>A ENST00000428286.1 - 8 6885 c.5685C>T c.(5683-5685)agC>agT p.S1895S PRUNE2_ENST00000376718.3_Silent_p.S2254S Q8WUY3 PRUN2_HUMAN prune homolog 2 (Drosophila) 2254 apoptosis|G1 phase|induction of apoptosis cytoplasm metal ion binding|pyrophosphatase activity endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1) 16 CAGGAGAAAAGCTGTCTGATA 0.448000 16 39 0 0 1 0 0 ZNF229 7772 broad.mit.edu 37 19 44934399 44934399 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:44934399C>T ENST00000291187.4 - 6 861 c.539G>A c.(538-540)gGa>gAa p.G180E CTC-512J12.4_ENST00000588655.1_RNA|ZNF229_ENST00000591289.1_Intron|ZNF229_ENST00000588931.1_Missense_Mutation_p.G186E NM_001278510.1 NP_001265439.1 Q9UJW7 ZN229_HUMAN zinc finger protein 229 186 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1) 45 Prostate(69;0.0352) TGCCCAAGATCCTTGAATGGG 0.423000 32 75 0 0 1 0 0 ZNF613 79898 broad.mit.edu 37 19 52448956 52448956 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:52448956C>T ENST00000293471.6 + 6 2499 c.1820C>T c.(1819-1821)tCa>tTa p.S607L ZNF613_ENST00000391794.4_Missense_Mutation_p.S571L|ZNF613_ENST00000601794.1_Intron NM_001031721.3 NP_001026891.2 Q6PF04 ZN613_HUMAN zinc finger protein 613 607 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1) 19 all_neural(266;0.117) GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.0183) GCCAGAAGTTCAGTCTCAGCA 0.428000 25 44 0 0 1 0 0 CEACAM3 1084 broad.mit.edu 37 19 42300614 42300614 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:42300614G>A ENST00000357396.3 + 1 246 c.5G>A c.(4-6)gGg>gAg p.G2E CEACAM3_ENST00000595255.1_3'UTR|CEACAM3_ENST00000344550.4_Missense_Mutation_p.G2E|CEACAM3_ENST00000221999.4_Missense_Mutation_p.G2E NM_001815.2 NP_001806.2 P40198 CEAM3_HUMAN carcinoembryonic antigen-related cell adhesion molecule 3 2 integral to membrane endometrium(2)|kidney(4)|large_intestine(1)|lung(4)|prostate(3)|skin(4)|stomach(1) 19 GAGACCATGGGGCCCCCCTCA 0.597000 27 64 0 0 1 0 0 FRYL 285527 broad.mit.edu 37 4 48514613 48514613 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:48514613G>A ENST00000358350.4 - 57 8634 c.8030C>T c.(8029-8031)cCc>cTc p.P2677L FRYL_ENST00000507873.2_Missense_Mutation_p.P73L|FRYL_ENST00000503238.1_Missense_Mutation_p.P2677L|FRYL_ENST00000264319.7_Missense_Mutation_p.P73L|FRYL_ENST00000537810.1_Missense_Mutation_p.P2677L NM_015030.1 NP_055845.1 O94915 FRYL_HUMAN FRY-like 2677 regulation of transcription, DNA-dependent|transcription, DNA-dependent protein binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 91 ATATGCCACGGGCTGAAAGGC 0.493000 30 61 0 0 1 0 0 ACER1 125981 broad.mit.edu 37 19 6306814 6306814 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:6306814C>T ENST00000301452.4 - 6 783 c.706G>A c.(706-708)Gaa>Aaa p.E236K NM_133492.2 NP_597999.1 Q8TDN7 ACER1_HUMAN alkaline ceramidase 1 236 endoplasmic reticulum membrane|integral to membrane ceramidase activity NS(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|pancreas(1) 15 TTGAGGGTTTCACCTGGCATC 0.592000 25 46 0 0 1 0 0 OTUD5 55593 broad.mit.edu 37 X 48792283 48792283 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chrX:48792283C>T ENST00000156084.4 - 3 757 c.697G>A c.(697-699)Gtg>Atg p.V233M OTUD5_ENST00000396743.3_Missense_Mutation_p.V233M|OTUD5_ENST00000376488.3_Missense_Mutation_p.V233M|OTUD5_ENST00000428668.2_Missense_Mutation_p.V16M|OTUD5_ENST00000484499.1_5'UTR NM_017602.3 NP_060072.1 Q96G74 OTUD5_HUMAN OTU domain containing 5 233 OTU. negative regulation of type I interferon production cysteine-type peptidase activity endometrium(2)|large_intestine(3)|lung(6)|pancreas(2) 13 TCTCCATACACCTGGTCAGCT 0.542000 19 16 0 0 1 0 0 KMT2B 9757 broad.mit.edu 37 19 36217199 36217199 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:36217199C>T ENST00000420124.1 + 14 3948 c.3948C>T c.(3946-3948)gtC>gtT p.V1316V KMT2B_ENST00000607650.1_RNA|WBP7_ENST00000222270.7_Silent_p.V1316V ACTGGGACGTCGAGTGGTCTG 0.607000 27 54 0 0 1 0 0 TG 7038 broad.mit.edu 37 8 134034296 134034296 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:134034296G>A ENST00000220616.4 + 40 6977 c.6937G>A c.(6937-6939)Gga>Aga p.G2313R TG_ENST00000377869.1_Missense_Mutation_p.G2256R|TG_ENST00000542445.1_Missense_Mutation_p.G683R|TG_ENST00000519543.1_Missense_Mutation_p.G446R NM_003235.4 NP_003226.4 P01266 THYG_HUMAN thyroglobulin 2313 hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation extracellular space hormone activity NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8) 168 Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735) BRCA - Breast invasive adenocarcinoma(115;0.000701) KIRC - Kidney renal clear cell carcinoma(542;0.0546) GGAGAGTGAAGGATGGCCGGC 0.572000 67 127 0 0 1 0 0 CLCN4 1183 broad.mit.edu 37 X 10176264 10176264 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chrX:10176264C>T ENST00000380833.4 + 9 1414 c.1023C>T c.(1021-1023)ttC>ttT p.F341F CLCN4_ENST00000421085.2_Silent_p.F247F|CLCN4_ENST00000380829.1_Intron NM_001256944.1|NM_001830.3 NP_001243873.1|NP_001821.2 P51793 CLCN4_HUMAN chloride channel, voltage-sensitive 4 341 early endosome membrane|integral to membrane|late endosome membrane antiporter activity|ATP binding|voltage-gated chloride channel activity breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 36 TTGGGGTCTTCGGGGGCTTGT 0.572000 215 49 0 0 1 0 0 PLEKHM3 389072 broad.mit.edu 37 2 208866124 208866124 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:208866124G>A ENST00000457206.1 - 2 667 c.240C>T c.(238-240)ctC>ctT p.L80L PLEKHM3_ENST00000389247.4_Silent_p.L80L|PLEKHM3_ENST00000427836.2_Silent_p.L80L Q6ZWE6 PKHM3_HUMAN pleckstrin homology domain containing, family M, member 3 80 intracellular signal transduction metal ion binding central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 TGGTTTCTAAGAGCCTGCTCT 0.473000 33 90 0 0 1 0 0 CDCP1 64866 broad.mit.edu 37 3 45152122 45152122 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:45152122G>A ENST00000296129.1 - 4 1001 c.867C>T c.(865-867)acC>acT p.T289T CDCP1_ENST00000425231.2_Silent_p.T289T NM_022842.3 NP_073753.3 Q9H5V8 CDCP1_HUMAN CUB domain containing protein 1 289 extracellular region|integral to membrane|plasma membrane central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|skin(4)|urinary_tract(1) 29 BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651) CGGGGTTGGTGGTGGAGCCCG 0.577000 15 208 0 0 1 0 0 NDUFV1 4723 broad.mit.edu 37 11 67379376 67379376 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:67379376C>T ENST00000322776.6 + 8 1242 c.1089C>T c.(1087-1089)atC>atT p.I363I NDUFV1_ENST00000415352.2_Silent_p.I356I|NDUFV1_ENST00000532303.1_Silent_p.I262I|NDUFV1_ENST00000529927.1_Silent_p.I354I|NDUFV1_ENST00000526169.1_3'UTR NM_001166102.1|NM_007103.3 NP_001159574.1|NP_009034.2 P49821 NDUV1_HUMAN NADH dehydrogenase (ubiquinone) flavoprotein 1, 51kDa 363 mitochondrial electron transport, NADH to ubiquinone|transport mitochondrial respiratory chain complex I 4 iron, 4 sulfur cluster binding|FMN binding|metal ion binding|NAD binding|NADH dehydrogenase (ubiquinone) activity breast(1)|endometrium(3)|large_intestine(2)|lung(7)|prostate(1)|skin(2) 16 NADH(DB00157) AGACGGACATCGTGAAAGCCA 0.627000 31 81 0 0 1 0 0 POLR2J4 84820 broad.mit.edu 37 7 44009425 44009425 + RNA SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:44009425G>A ENST00000427076.1 - 0 1105 NR_003655.2 TCCTCATCAGGGTCAACCTCC 0.682000 9 29 0 0 1 0 0 BCAM 4059 broad.mit.edu 37 19 45322652 45322652 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:45322652C>T ENST00000391955.1 + 12 1567 c.1523C>T c.(1522-1524)aCc>aTc p.T508I BCAM_ENST00000270233.6_Missense_Mutation_p.T508I P50895 BCAM_HUMAN basal cell adhesion molecule (Lutheran blood group) 508 Ig-like C2-type 3. cell-matrix adhesion integral to plasma membrane laminin binding|laminin receptor activity central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 22 Lung NSC(12;0.000789)|all_lung(12;0.00218) Ovarian(192;0.0728)|all_neural(266;0.112) AGCTCTCTGACCCTGAAAGTG 0.657000 5 199 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9069384 9069384 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:9069384G>A ENST00000397910.4 - 3 18265 c.18062C>T c.(18061-18063)tCt>tTt p.S6021F NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 6023 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 TTTATGCATAGAATTGGTGGT 0.453000 17 262 0 0 1 0 0 HSFY1P1 27437 broad.mit.edu 37 22 17309896 17309896 + RNA SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr22:17309896C>T ENST00000425038.1 + 0 1052 NR_003607.1 TACATCATATCTCCCTCCTTT 0.433000 4 4 0 0 1 0 0 C2orf70 339778 broad.mit.edu 37 2 26798945 26798945 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:26798945G>A ENST00000409392.1 + 3 314 c.212G>A c.(211-213)gGa>gAa p.G71E C2orf70_ENST00000329615.3_Missense_Mutation_p.E84K A6NJV1 CB070_HUMAN chromosome 2 open reading frame 70 0 breast(3)|endometrium(2)|large_intestine(1)|lung(4)|prostate(1)|skin(2) 13 CCTGCTGATGGAGCGCGCCAG 0.607000 59 140 0 0 1 0 0 MARCH10 162333 broad.mit.edu 37 17 60814024 60814024 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:60814024G>A ENST00000544856.2 - 7 1580 c.1202C>T c.(1201-1203)tCg>tTg p.S401L MARCH10_ENST00000311269.5_Missense_Mutation_p.S402L|RP11-156L14.1_ENST00000577270.1_RNA|RP11-156L14.1_ENST00000582564.1_RNA|MARCH10_ENST00000456609.2_Missense_Mutation_p.S402L|MARCH10_ENST00000583600.1_Missense_Mutation_p.S440L Q8NA82 MARHA_HUMAN membrane-associated ring finger (C3HC4) 10, E3 ubiquitin protein ligase 402 ligase activity|zinc ion binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|liver(1)|lung(15) 38 GGTGTCCCACGAAAGAGGGCT 0.512000 49 160 0 0 1 0 0 MYO18B 84700 broad.mit.edu 37 22 26228956 26228956 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr22:26228956C>T ENST00000335473.7 + 16 3302 c.3052C>T c.(3052-3054)Ccc>Tcc p.P1018S MYO18B_ENST00000536101.1_Missense_Mutation_p.P1018S|MYO18B_ENST00000407587.2_Missense_Mutation_p.P1018S NM_032608.5 NP_115997.5 Q8IUG5 MY18B_HUMAN myosin XVIIIB 1018 Myosin head-like. nucleus|sarcomere|unconventional myosin complex actin binding|ATP binding|motor activity NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 146 GGATCAAAATCCCTCTCAGGT 0.502000 45 92 0 0 1 0 0 CAPN11 11131 broad.mit.edu 37 6 44148369 44148369 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:44148369C>T ENST00000542245.1 + 16 1754 c.1716C>T c.(1714-1716)ttC>ttT p.F572F CAPN11_ENST00000398776.1_Silent_p.F572F Q9UMQ6 CAN11_HUMAN calpain 11 572 Domain IV. proteolysis acrosomal vesicle calcium ion binding|calcium-dependent cysteine-type endopeptidase activity breast(3)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1) 36 all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) ACCAGGACTTCCTACATTTGT 0.597000 48 57 0 0 1 0 0 OR10J3 441911 broad.mit.edu 37 1 159284027 159284027 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:159284027G>A ENST00000332217.5 - 1 422 c.423C>T c.(421-423)gcC>gcT p.A141A NM_001004467.1 NP_001004467.1 Q5JRS4 O10J3_HUMAN olfactory receptor, family 10, subfamily J, member 3 141 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(19)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 47 all_hematologic(112;0.0429) GTTGGATACAGGCCCTCTTAC 0.512000 64 69 0 0 1 0 0 ACPP 55 broad.mit.edu 37 3 132051171 132051171 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:132051171C>T ENST00000336375.5 + 4 529 c.439C>T c.(439-441)Cct>Tct p.P147S ACPP_ENST00000475741.1_Missense_Mutation_p.P147S|ACPP_ENST00000489084.1_3'UTR|ACPP_ENST00000351273.7_Missense_Mutation_p.P147S NM_001099.4 NP_001090.2 P15309 PPAP_HUMAN acid phosphatase, prostate 147 extracellular region|lysosomal membrane 5'-nucleotidase activity|acid phosphatase activity NS(1)|breast(1)|endometrium(2)|large_intestine(5)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 27 GCACACAGTTCCTCTTTCTGA 0.507000 32 45 0 0 1 0 0 HHIP 64399 broad.mit.edu 37 4 145629453 145629453 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:145629453G>A ENST00000296575.3 + 7 1946 c.1291G>A c.(1291-1293)Gat>Aat p.D431N NM_022475.2 NP_071920.1 Q96QV1 HHIP_HUMAN hedgehog interacting protein 431 cytoplasm|extracellular region catalytic activity|protein binding|zinc ion binding central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 33 all_hematologic(180;0.151) GBM - Glioblastoma multiforme(119;0.0185) TGGGCTCCACGATCCAGGCAG 0.517000 23 61 0 0 1 0 0 ERBB4 2066 broad.mit.edu 37 2 212248423 212248423 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:212248423G>A ENST00000342788.4 - 28 4154 c.3844C>T c.(3844-3846)Cct>Tct p.P1282S ERBB4_ENST00000436443.1_Missense_Mutation_p.P1266S|ERBB4_ENST00000402597.1_Missense_Mutation_p.P1272S NM_005235.2 NP_005226.1 Q15303 ERBB4_HUMAN v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4 1282 cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway basolateral plasma membrane|cytoplasm|integral to membrane|nucleus ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 179 Renal(323;0.06)|Lung NSC(271;0.197) UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266) AGGTATTCAGGATTCTCTGCC 0.507000 TSP Lung(8;0.080) 37 61 0 0 1 0 0 AHNAK2 113146 broad.mit.edu 37 14 105420995 105420995 + Nonsense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr14:105420995G>A ENST00000333244.5 - 7 912 c.793C>T c.(793-795)Caa>Taa p.Q265* NM_138420.2 NP_612429.2 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 265 nucleus cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3) 33 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) TTTATGGATTGAAATTTTGGC 0.577000 17 28 0 0 1 0 0 MFSD6L 162387 broad.mit.edu 37 17 8700900 8700900 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:8700900G>A ENST00000329805.4 - 1 1767 c.1539C>T c.(1537-1539)ttC>ttT p.F513F NM_152599.3 NP_689812.3 Q8IWD5 MFS6L_HUMAN major facilitator superfamily domain containing 6-like 513 integral to membrane central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(7)|skin(4) 17 GCATCACCACGAAGCCCCCGA 0.637000 28 62 0 0 1 0 0 PTCHD2 57540 broad.mit.edu 37 1 11561611 11561611 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:11561611G>A ENST00000294484.6 + 2 700 c.562G>A c.(562-564)Gac>Aac p.D188N PTCHD2_ENST00000389575.3_Missense_Mutation_p.D188N NM_020780.1 NP_065831.1 Q9P2K9 PTHD2_HUMAN patched domain containing 2 188 cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway endoplasmic reticulum|integral to membrane|nuclear membrane hedgehog receptor activity NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 76 Ovarian(185;0.249) Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549) CCCTTACCGGGACACTTCCGC 0.697000 10 24 0 0 1 0 0 OAS2 4939 broad.mit.edu 37 12 113445585 113445585 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:113445585G>A ENST00000392583.2 + 9 1939 c.1732G>A c.(1732-1734)Gag>Aag p.E578K OAS2_ENST00000342315.4_Missense_Mutation_p.E578K|RP1-71H24.1_ENST00000552784.1_RNA NM_002535.2 NP_002526.2 P29728 OAS2_HUMAN 2'-5'-oligoadenylate synthetase 2, 69/71kDa 578 OAS domain 2. interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway endoplasmic reticulum|membrane|microsome|mitochondrion|nucleus ATP binding|nucleotidyltransferase activity|RNA binding NS(1)|breast(2)|endometrium(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 28 CTATGCCTGGGAGCAGGGGAG 0.527000 55 109 0 0 1 0 0 HAP1 9001 broad.mit.edu 37 17 39881024 39881024 + Nonsense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:39881024G>A ENST00000393939.2 - 10 1723 c.1714C>T c.(1714-1716)Cag>Tag p.Q572* HAP1_ENST00000310778.5_Nonsense_Mutation_p.Q649*|JUP_ENST00000540235.1_Intron|HAP1_ENST00000347901.4_Nonsense_Mutation_p.Q597*|HAP1_ENST00000341193.5_Nonsense_Mutation_p.Q580* P54257 HAP1_HUMAN huntingtin-associated protein 1 649 Glu-rich. brain development|protein localization|synaptic transmission actin cytoskeleton protein binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(4)|skin(1) 21 Breast(137;0.000162) BRCA - Breast invasive adenocarcinoma(4;0.0677) TCACCTTTCTGGAGCATCTTC 0.612000 10 295 0 0 1 0 0 C8A 731 broad.mit.edu 37 1 57349224 57349224 + Missense_Mutation SNP A A T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:57349224A>T ENST00000361249.3 + 6 821 c.725A>T c.(724-726)aAa>aTa p.K242I NM_000562.2 NP_000553.1 P07357 CO8A_HUMAN complement component 8, alpha polypeptide 242 MACPF. complement activation, alternative pathway|complement activation, classical pathway|cytolysis extracellular space|membrane attack complex NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 43 AAAGTTAAAAAAGACAAGTCT 0.428000 29 90 0 0 1 0 0 PROSER1 80209 broad.mit.edu 37 13 39588310 39588310 + Missense_Mutation SNP G G A rs138168567 TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr13:39588310G>A ENST00000352251.3 - 11 1912 c.1079C>T c.(1078-1080)tCc>tTc p.S360F PROSER1_ENST00000350125.3_Missense_Mutation_p.S338F|PROSER1_ENST00000484434.2_Intron NM_025138.3 NP_079414.3 Q86XN7 CM023_HUMAN proline and serine rich 1 360 Pro-rich. p.S360F(1) AGAAAAAATGGAAGGAACAGG 0.532000 35 60 0 0 1 0 0 ADAMTS5 11096 broad.mit.edu 37 21 28296821 28296821 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr21:28296821C>T ENST00000284987.5 - 8 2465 c.2344G>A c.(2344-2346)Ggt>Agt p.G782S AP001601.2_ENST00000426771.1_RNA NM_007038.3 NP_008969.2 Q9UNA0 ATS5_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 5 782 Spacer. proteolysis proteinaceous extracellular matrix integrin binding|metalloendopeptidase activity|zinc ion binding breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3) 72 AGGTACTCACCGTTTTTCTTT 0.438000 89 131 0 0 1 0 0 GPR39 2863 broad.mit.edu 37 2 133175290 133175290 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:133175290C>T ENST00000329321.3 + 1 1144 c.675C>T c.(673-675)ttC>ttT p.F225F NM_001508.2 NP_001499.1 O43194 GPR39_HUMAN G protein-coupled receptor 39 225 integral to plasma membrane G-protein coupled receptor activity|metal ion binding breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 CCAGCATCTTCGGCGCCTTCG 0.607000 37 74 0 0 1 0 0 DNAJC18 202052 broad.mit.edu 37 5 138764329 138764329 + Nonsense_Mutation SNP G G A rs150334373 byFrequency TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:138764329G>A ENST00000302060.5 - 3 351 c.271C>T c.(271-273)Cga>Tga p.R91* NM_152686.3 NP_689899.1 Q9H819 DJC18_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 18 91 J. protein folding integral to membrane heat shock protein binding|unfolded protein binding endometrium(2)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|skin(1) 13 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325) CTAGCATCTCGAGAAACTCCC 0.388000 136 73 0 0 1 0 0 POLE 5426 broad.mit.edu 37 12 133212545 133212545 + Missense_Mutation SNP A A T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:133212545A>T ENST00000320574.5 - 42 5787 c.5744T>A c.(5743-5745)cTc>cAc p.L1915H POLE_ENST00000434528.3_5'UTR|POLE_ENST00000535270.1_Missense_Mutation_p.L1888H NM_006231.2 NP_006222.2 Q07864 DPOE1_HUMAN polymerase (DNA directed), epsilon, catalytic subunit 1915 base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair nucleoplasm chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 89 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.0416) OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05) ATCCATCCAGAGAAGAAATTC 0.478000 DNA polymerases (catalytic subunits) 33 54 0 0 1 0 0 TTC24 164118 broad.mit.edu 37 1 156552883 156552883 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:156552883C>T ENST00000368236.3 + 4 996 c.960C>T c.(958-960)gcC>gcT p.A320A TTC24_ENST00000495690.1_3'UTR|TTC24_ENST00000368237.3_Silent_p.A320A NM_001105669.2 NP_001099139.2 A2A3L6 TTC24_HUMAN tetratricopeptide repeat domain 24 320 binding breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|pancreas(1)|prostate(1) 20 all_hematologic(923;0.088)|Hepatocellular(266;0.158) GCAGCCTGGCCTTTGCATTGA 0.652000 19 62 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9049966 9049966 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:9049966C>T ENST00000397910.4 - 5 31868 c.31665G>A c.(31663-31665)agG>agA p.R10555R NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 10557 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 ATGGGGTTGTCCTGGGAAGAG 0.478000 60 149 0 0 1 0 0 SLFN11 91607 broad.mit.edu 37 17 33679757 33679757 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:33679757C>T ENST00000394566.1 - 7 2596 c.2324G>A c.(2323-2325)gGa>gAa p.G775E SLFN11_ENST00000308377.4_Missense_Mutation_p.G775E NM_001104587.1|NM_001104588.1|NM_001104589.1|NM_001104590.1 NP_001098057.1|NP_001098058.1|NP_001098059.1|NP_001098060.1 Q7Z7L1 SLN11_HUMAN schlafen family member 11 775 nucleus ATP binding autonomic_ganglia(1)|breast(1)|kidney(3)|large_intestine(14)|lung(17)|ovary(1)|prostate(4)|skin(2)|stomach(5)|upper_aerodigestive_tract(2) 50 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) TCGTAAGGTTCCCTGAACACC 0.448000 26 55 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9074833 9074833 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:9074833C>T ENST00000397910.4 - 3 12816 c.12613G>A c.(12613-12615)Gac>Aac p.D4205N NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 4207 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 CTCGACATGTCTGTGGTCTTC 0.493000 22 35 0 0 1 0 0 GOLGA8K 653125 broad.mit.edu 37 15 32693652 32693652 + Missense_Mutation SNP T T G TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr15:32693652T>G ENST00000512626.2 - 2 73 c.73A>C c.(73-75)Agc>Cgc p.S25R RP13-395E19.3_ENST00000562108.1_RNA golgin A8 family, member K ACTCTAGGGCTGTTTTTCTGC 0.463000 7 20 0 0 1 0 0 LOC101928517 101928517 broad.mit.edu 37 19 51670806 51670806 + RNA SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:51670806C>T ENST00000600074.1 - 0 493 SIGLEC17P_ENST00000598286.1_RNA TGCCAGAGTCCGTGACGGTGC 0.597000 4 11 0 0 1 0 0 PEAR1 375033 broad.mit.edu 37 1 156877947 156877947 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:156877947C>T ENST00000338302.3 + 10 1155 c.930C>T c.(928-930)cgC>cgT p.R310R PEAR1_ENST00000292357.7_Silent_p.R310R Q5VY43 PEAR1_HUMAN platelet endothelial aggregation receptor 1 310 integral to membrane breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(6)|lung(22)|ovary(4)|skin(3)|upper_aerodigestive_tract(1) 43 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) CGGTGGGCCGCTTTGGGCAGG 0.721000 14 14 0 0 1 0 0 ATP13A4 84239 broad.mit.edu 37 3 193209143 193209143 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:193209143G>A ENST00000342695.4 - 6 900 c.578C>T c.(577-579)cCa>cTa p.P193L ATP13A4_ENST00000392443.3_Missense_Mutation_p.P193L|ATP13A4_ENST00000295548.3_Missense_Mutation_p.P193L NM_032279.2 NP_115655.2 Q4VNC1 AT134_HUMAN ATPase type 13A4 193 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2) 71 all_cancers(143;1.76e-08)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;0.000109) TTTCCAAATTGGTGTAACTTC 0.358000 8 142 0 0 1 0 0 ASB2 51676 broad.mit.edu 37 14 94419836 94419836 + Missense_Mutation SNP C C T rs144043383 TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr14:94419836C>T ENST00000555019.1 - 5 926 c.496G>A c.(496-498)Gac>Aac p.D166N ASB2_ENST00000556337.1_Intron|ASB2_ENST00000315988.4_Missense_Mutation_p.D118N NM_001202429.1 NP_001189358.1 Q96Q27 ASB2_HUMAN ankyrin repeat and SOCS box containing 2 118 intracellular signal transduction breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(1) 27 all_cancers(154;0.13) COAD - Colon adenocarcinoma(157;0.217)|Epithelial(152;0.232) GTGCGCTGGTCGATGGTCCCT 0.602000 17 44 0 0 1 0 0 C1S 716 broad.mit.edu 37 12 7177620 7177620 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:7177620C>T ENST00000406697.1 + 15 2360 c.1732C>T c.(1732-1734)Cgt>Tgt p.R578C C1S_ENST00000360817.5_Missense_Mutation_p.R578C|C1S_ENST00000328916.3_Missense_Mutation_p.R578C|C1S_ENST00000402681.3_Missense_Mutation_p.R411C P09871 C1S_HUMAN complement component 1, s subcomponent 578 Peptidase S1. complement activation, classical pathway|innate immune response|proteolysis extracellular region calcium ion binding|serine-type endopeptidase activity breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 33 Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072) GAAGAGAGATCGTGCTGTTCG 0.537000 38 39 0 0 1 0 0 DNAH1 25981 broad.mit.edu 37 3 52429399 52429399 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:52429399G>A ENST00000420323.2 + 69 11305 c.11044G>A c.(11044-11046)Gac>Aac p.D3682N NM_015512.4 NP_056327.4 Q9P2D7 DYH1_HUMAN dynein, axonemal, heavy chain 1 3747 ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1) 62 BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) ACCCGGCACAGACCCTGCTGC 0.572000 13 27 0 0 1 0 0 SLC2A9 56606 broad.mit.edu 37 4 9998415 9998415 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:9998415C>T ENST00000506583.1 - 5 530 c.313G>A c.(313-315)Gtt>Att p.V105I SLC2A9_ENST00000264784.3_Missense_Mutation_p.V134I|SLC2A9_ENST00000309065.3_Missense_Mutation_p.V105I Q9NRM0 GTR9_HUMAN solute carrier family 2 (facilitated glucose transporter), member 9 134 glucose transport|urate metabolic process integral to membrane|plasma membrane sugar:hydrogen symporter activity NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(1) 35 CTCCCAAGAACCTTTCCAATC 0.488000 13 41 0 0 1 0 0 VARS 7407 broad.mit.edu 37 6 31760276 31760276 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:31760276G>A ENST00000375663.3 - 5 1119 c.679C>T c.(679-681)Ctc>Ttc p.L227F VARS_ENST00000444930.2_5'UTR NM_006295.2 NP_006286.1 P26640 SYVC_HUMAN valyl-tRNA synthetase 227 translational elongation|valyl-tRNA aminoacylation cytosol ATP binding|protein binding|valine-tRNA ligase activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 30 L-Valine(DB00161) GTCTTTGGGAGGGCAGGAGCC 0.532000 41 135 0 0 1 0 0 ACSM2B 348158 broad.mit.edu 37 16 20548646 20548646 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr16:20548646C>T ENST00000329697.6 - 14 1836 c.1668G>A c.(1666-1668)ggG>ggA p.G556G ACSM2B_ENST00000565232.1_Silent_p.G556G|ACSM2B_ENST00000567001.1_Silent_p.G556G|ACSM2B_ENST00000565322.1_Silent_p.G477G NM_001105069.1 NP_001098539.1 Q68CK6 ACS2B_HUMAN acyl-CoA synthetase medium-chain family member 2B 556 fatty acid metabolic process|xenobiotic metabolic process mitochondrial matrix ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5) 57 GTTGAATTTTCCCTGTGACAG 0.473000 114 245 0 0 1 0 0 STAT4 6775 broad.mit.edu 37 2 191896189 191896189 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:191896189G>A ENST00000392320.2 - 22 2412 c.2098C>T c.(2098-2100)Ccc>Tcc p.P700S STAT4_ENST00000358470.4_Missense_Mutation_p.P700S|AC067945.4_ENST00000456176.1_RNA NM_003151.3 NP_003142.1 Q14765 STAT4_HUMAN signal transducer and activator of transcription 4 700 JAK-STAT cascade cytoplasm|nucleus calcium ion binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity breast(4)|endometrium(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1) 42 OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204) GTTGAGATGGGGATAAAAACA 0.338000 17 38 0 0 1 0 0 COL5A2 1290 broad.mit.edu 37 2 189929336 189929336 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:189929336C>T ENST00000374866.3 - 25 1937 c.1663G>A c.(1663-1665)Gga>Aga p.G555R NM_000393.3 NP_000384.2 P05997 CO5A2_HUMAN collagen, type V, alpha 2 555 axon guidance|collagen fibril organization|eye morphogenesis|skin development collagen type V extracellular matrix structural constituent NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3) 95 OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127) CCCTGGCTTCCTTTGGGTCCT 0.512000 36 73 0 0 1 0 0 TPD52L3 89882 broad.mit.edu 37 9 6331008 6331008 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:6331008G>A ENST00000314556.3 + 2 592 c.400G>A c.(400-402)Gga>Aga p.G134R NM_001001874.2 NP_001001874.1 Q96J77 TPD55_HUMAN tumor protein D52-like 3 0 protein binding large_intestine(1)|lung(9)|skin(1) 11 Acute lymphoblastic leukemia(23;0.158) GBM - Glioblastoma multiforme(50;0.0198)|Lung(218;0.1) GTTAAATCAAGGAAGGAATTA 0.313000 32 30 0 0 1 0 0 EYA4 2070 broad.mit.edu 37 6 133783593 133783593 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:133783593G>A ENST00000367895.5 + 8 1022 c.558G>A c.(556-558)caG>caA p.Q186Q EYA4_ENST00000355286.6_Silent_p.Q163Q|EYA4_ENST00000355167.3_Silent_p.Q186Q|EYA4_ENST00000431403.2_Silent_p.Q186Q|EYA4_ENST00000452339.2_Silent_p.Q132Q|EYA4_ENST00000430974.2_Silent_p.Q132Q|EYA4_ENST00000525849.1_Silent_p.Q163Q|EYA4_ENST00000531901.1_Silent_p.Q186Q NM_004100.4 NP_004091.3 O95677 EYA4_HUMAN eyes absent homolog 4 (Drosophila) 186 anatomical structure morphogenesis|chromatin modification|DNA repair|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception cytoplasm|nucleus metal ion binding|protein tyrosine phosphatase activity breast(1)|central_nervous_system(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|skin(1) 48 Colorectal(23;0.221) GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152) AGACAGGACAGCCCTACAGCT 0.493000 5 101 0 0 1 0 0 RERE 473 broad.mit.edu 37 1 8420247 8420247 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:8420247G>A ENST00000337907.3 - 19 3954 c.3320C>T c.(3319-3321)cCc>cTc p.P1107L RERE_ENST00000400907.2_Intron|RERE_ENST00000400908.2_Missense_Mutation_p.P1107L|RERE_ENST00000377464.1_Missense_Mutation_p.P839L|RERE_ENST00000476556.1_Missense_Mutation_p.P553L NM_012102.3 NP_036234.3 Q9P2R6 RERE_HUMAN arginine-glutamic acid dipeptide (RE) repeats 1107 Pro-rich. multicellular organismal development|NLS-bearing substrate import into nucleus mitochondrion poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 49 Ovarian(185;0.0661) all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195) TGGGGGAGGGGGGCTCTCAGG 0.687000 3 6 0 0 1 0 0 CBL 867 broad.mit.edu 37 11 119148946 119148946 + Missense_Mutation SNP A A C TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:119148946A>C ENST00000264033.4 + 8 1542 c.1166A>C c.(1165-1167)aAg>aCg p.K389T NM_005188.3 NP_005179.2 P22681 CBL_HUMAN Cbl proto-oncogene, E3 ubiquitin protein ligase 389 Asp/Glu-rich (acidic). epidermal growth factor receptor signaling pathway|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of receptor-mediated endocytosis cytosol|nucleus calcium ion binding|sequence-specific DNA binding transcription factor activity|SH3 domain binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding p.E366_Q409del(13)|p.E369_Q409del(1)|p.E369_D390del(1)|p.?(1)|p.E366_K477del(1) breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(194)|kidney(3)|large_intestine(9)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 251 Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;4.92e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.000784) GAAAATGATAAGGATGTAAAG 0.358000 """T, Mis S, O""" MLL """AML, JMML, MDS""" Noonan syndrome;CBL gene-associated Juvenile Myelomonocytic Leukemia and Developmental Anomalies 35 34 0 0 1 0 0 HMCN1 83872 broad.mit.edu 37 1 186043946 186043946 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:186043946C>T ENST00000271588.4 + 53 8442 c.8213C>T c.(8212-8214)tCa>tTa p.S2738L HMCN1_ENST00000367492.2_Missense_Mutation_p.S2738L NM_031935.2 NP_114141.2 Q96RW7 HMCN1_HUMAN hemicentin 1 2738 Ig-like C2-type 25. response to stimulus|visual perception basement membrane calcium ion binding NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18) 308 GCTCAAATATCAGACACCGGA 0.358000 56 60 0 0 1 0 0 ILDR1 286676 broad.mit.edu 37 3 121712524 121712524 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:121712524G>A ENST00000273691.3 - 6 1045 c.940C>T c.(940-942)Ccc>Tcc p.P314S ILDR1_ENST00000344209.5_Missense_Mutation_p.P358S|ILDR1_ENST00000460554.1_5'UTR|ILDR1_ENST00000462014.1_Missense_Mutation_p.P326S|ILDR1_ENST00000393631.1_Missense_Mutation_p.P269S NM_175924.3 NP_787120.1 Q86SU0 ILDR1_HUMAN immunoglobulin-like domain containing receptor 1 358 cytosol|integral to membrane|plasma membrane receptor activity central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 GBM - Glioblastoma multiforme(114;0.156) GGCCTGGAGGGAATTGGGGTG 0.602000 24 37 0 0 1 0 0 DNMT3A 1788 broad.mit.edu 37 2 25505441 25505441 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:25505441G>A ENST00000264709.3 - 4 654 c.317C>T c.(316-318)cCt>cTt p.P106L DNMT3A_ENST00000321117.5_Missense_Mutation_p.P106L|DNMT3A_ENST00000406659.3_Missense_Mutation_p.P106L NM_175629.2 NP_783328.1 Q9Y6K1 DNM3A_HUMAN DNA (cytosine-5-)-methyltransferase 3 alpha 106 regulation of gene expression by genetic imprinting cytoplasm|euchromatin|nuclear matrix DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2) 1021 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CCCCCCAGCAGGGCTCCCCTC 0.652000 """Mis, F, N, S""" AML 21 78 0 0 1 0 0 OPRK1 4986 broad.mit.edu 37 8 54163397 54163397 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:54163397G>A ENST00000265572.3 - 2 498 c.201C>T c.(199-201)tcC>tcT p.S67S OPRK1_ENST00000520287.1_Silent_p.S67S NM_000912.3 NP_000903.2 P41145 OPRK_HUMAN opioid receptor, kappa 1 67 behavior|immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception|synaptic transmission|viral genome replication integral to plasma membrane kappa-opioid receptor activity|protein binding NS(2)|breast(3)|endometrium(3)|kidney(12)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1) 43 all_epithelial(80;0.066)|Lung NSC(129;0.0804)|all_lung(136;0.136) Buprenorphine(DB00921)|Butorphanol(DB00611)|Cocaine(DB00907)|Codeine(DB00318)|Dezocine(DB01209)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Meperidine(DB00454)|Mirtazapine(DB00370)|Morphine(DB00295)|Nalbuphine(DB00844)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Tramadol(DB00193) CGAACACTACGGAGTAGACCG 0.701000 24 59 0 0 1 0 0 ADCY8 114 broad.mit.edu 37 8 132052031 132052031 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:132052031C>T ENST00000286355.5 - 1 2641 c.549G>A c.(547-549)gtG>gtA p.V183V ADCY8_ENST00000377928.3_Silent_p.V183V NM_001115.2 NP_001106.1 P40145 ADCY8_HUMAN adenylate cyclase 8 (brain) 183 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|membrane fraction|plasma membrane ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2) 134 Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000538) CGTTCATCACCACTTCCGATT 0.577000 HNSCC(32;0.087) 24 67 0 0 1 0 0 KCNMB1 3779 broad.mit.edu 37 5 169805903 169805903 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:169805903G>A ENST00000274629.4 - 4 823 c.381C>T c.(379-381)ttC>ttT p.F127F KCNIP1_ENST00000377360.4_Intron|KCNIP1_ENST00000518527.1_Intron NM_004137.3 NP_004128.1 Q16558 KCMB1_HUMAN potassium large conductance calcium-activated channel, subfamily M, beta member 1 127 platelet activation|synaptic transmission calcium-activated potassium channel activity|potassium channel regulator activity endometrium(1)|large_intestine(1)|lung(7)|ovary(2) 11 Renal(175;0.000159)|Lung NSC(126;0.0165)|all_lung(126;0.026) Medulloblastoma(196;0.0109)|all_neural(177;0.0146) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.175) GCTGCTCTTGGAATTTGGCTC 0.607000 39 60 0 0 1 0 0 ZNF564 163050 broad.mit.edu 37 19 12637325 12637325 + Missense_Mutation SNP A A G TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:12637325A>G ENST00000339282.7 - 4 1793 c.1597T>C c.(1597-1599)Tac>Cac p.Y533H ZNF709_ENST00000428311.1_Intron|CTD-2192J16.20_ENST00000593682.1_3'UTR NM_144976.3 NP_659413.1 zinc finger protein 564 endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 18 TTCTTTACGTAAGGTTTATCT 0.363000 4 105 0 0 1 0 0 ACSBG2 81616 broad.mit.edu 37 19 6182878 6182878 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:6182878G>A ENST00000588304.1 + 9 1319 c.873G>A c.(871-873)ttG>ttA p.L291L ACSBG2_ENST00000586696.1_Silent_p.L341L|ACSBG2_ENST00000252669.5_Silent_p.L341L|ACSBG2_ENST00000588485.1_Silent_p.L154L|ACSBG2_ENST00000591403.1_Silent_p.L341L|ACSBG2_ENST00000591741.1_3'UTR Q5FVE4 ACBG2_HUMAN acyl-CoA synthetase bubblegum family member 2 341 cell differentiation|fatty acid metabolic process|multicellular organismal development|spermatogenesis membrane|microsome|mitochondrion acyl-CoA thioesterase activity|ATP binding|long-chain fatty acid-CoA ligase activity breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(3)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 CCATGGGCTTGAAGAAGAAGG 0.458000 22 50 0 0 1 0 0 LRRC7 57554 broad.mit.edu 37 1 70488962 70488962 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:70488962G>A ENST00000310961.5 + 18 2018 c.1600G>A c.(1600-1602)Ggt>Agt p.G534S LRRC7_ENST00000035383.5_Missense_Mutation_p.G529S|LRRC7_ENST00000415775.2_Intron|RP11-181B18.1_ENST00000414132.1_RNA Q96NW7 LRRC7_HUMAN leucine rich repeat containing 7 529 centrosome|focal adhesion|nucleolus protein binding breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 162 GCTGGCATGGGGTTGTATAAG 0.557000 45 83 0 0 1 0 0 RYR2 6262 broad.mit.edu 37 1 237890389 237890389 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:237890389G>A ENST00000366574.2 + 76 11045 c.10728G>A c.(10726-10728)gtG>gtA p.V3576V RYR2_ENST00000360064.6_Silent_p.V3574V|RYR2_ENST00000542537.1_Silent_p.V3560V NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 3576 cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) TACCTCAGGTGGAACATCCTC 0.378000 27 60 0 0 1 0 0 NUP62CL 54830 broad.mit.edu 37 X 106397352 106397352 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chrX:106397352G>A ENST00000372466.4 - 5 570 c.319C>T c.(319-321)Cat>Tat p.H107Y NUP62CL_ENST00000372461.3_Intron NM_017681.2 NP_060151.2 Q9H1M0 N62CL_HUMAN nucleoporin 62kDa C-terminal like 107 protein transport nuclear pore structural constituent of nuclear pore lung(4) 4 ATCAATGTATGGTCCCAAGCA 0.393000 32 28 0 0 1 0 0 LOC101927415 101927415 broad.mit.edu 37 12 124069074 124069074 + RNA SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:124069074G>A ENST00000498967.2 - 0 588 CAGGCGGAAGGGGCGGAGCTT 0.761000 3 10 0 0 1 0 0 PPP1R3A 5506 broad.mit.edu 37 7 113518068 113518068 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:113518068C>T ENST00000284601.3 - 4 3147 c.3079G>A c.(3079-3081)Gaa>Aaa p.E1027K NM_002711.3 NP_002702.2 Q16821 PPR3A_HUMAN protein phosphatase 1, regulatory subunit 3A 1027 glycogen metabolic process integral to membrane NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2) 121 CCTTCATTTTCATGCCTTGCT 0.398000 81 251 0 0 1 0 0 LRIF1 55791 broad.mit.edu 37 1 111490704 111490704 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:111490704G>A ENST00000369763.4 - 4 2577 c.2187C>T c.(2185-2187)ttC>ttT p.F729F LRIF1_ENST00000485275.2_Silent_p.F193F|RP11-96K19.2_ENST00000440689.1_RNA|LRIF1_ENST00000494675.1_Silent_p.F193F NM_018372.3 NP_060842.3 Q5T3J3 LRIF1_HUMAN ligand dependent nuclear receptor interacting factor 1 729 regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear matrix protein binding p.F729F(1) endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(1)|urinary_tract(2) 28 GTGTCACTGGGAAAATATCTT 0.368000 71 139 0 0 1 0 0 ANKS6 203286 broad.mit.edu 37 9 101542555 101542555 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:101542555C>T ENST00000353234.4 - 6 1331 c.1284G>A c.(1282-1284)ccG>ccA p.P428P ANKS6_ENST00000540940.1_Silent_p.P233P|ANKS6_ENST00000375018.1_Silent_p.P428P|ANKS6_ENST00000375019.2_Silent_p.P127P Q68DC2 ANKS6_HUMAN ankyrin repeat and sterile alpha motif domain containing 6 428 endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1) 21 Acute lymphoblastic leukemia(62;0.0527) GCTGGTGGCTCGGCCGGCCTT 0.547000 15 25 0 0 1 0 0 LOC442028 442028 broad.mit.edu 37 2 95558273 95558273 + RNA SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:95558273C>T ENST00000568768.1 - 0 476 TTGTAGATTTCACCATTGTAA 0.393000 12 47 0 0 1 0 0 ECE2 9718 broad.mit.edu 37 3 183995985 183995985 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:183995985G>A ENST00000402825.3 + 6 988 c.988G>A c.(988-990)Gac>Aac p.D330N ECE2_ENST00000359140.4_Missense_Mutation_p.D183N|EIF2B5_ENST00000444495.1_Intron|ECE2_ENST00000404464.3_Missense_Mutation_p.D212N|ECE2_ENST00000357474.5_Missense_Mutation_p.D258N NM_014693.3 NP_055508.3 O60344 ECE2_HUMAN endothelin converting enzyme 2 330 Endothelin-converting enzyme 2 region. brain development|cardioblast differentiation|cell-cell signaling|peptide hormone processing cytoplasmic vesicle membrane|Golgi membrane|integral to membrane metal ion binding|metalloendopeptidase activity|methyltransferase activity breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(13)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(4) 49 all_cancers(143;1.39e-10)|Ovarian(172;0.0339) Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) GGGGCCCTGGGACCAGGACAA 0.522000 34 81 0 0 1 0 0 EDAR 10913 broad.mit.edu 37 2 109547432 109547432 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:109547432G>A ENST00000409271.1 - 3 482 c.39C>T c.(37-39)ctC>ctT p.L13L EDAR_ENST00000258443.2_Silent_p.L13L|EDAR_ENST00000376651.1_Silent_p.L13L Q9UNE0 EDAR_HUMAN ectodysplasin A receptor 13 apoptosis|cell differentiation integral to membrane protein binding|transmembrane receptor activity p.L13L(1) NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1) 16 CCAGGACGGGGAGCCAGGGCG 0.597000 36 83 0 0 1 0 0 SLIT3 6586 broad.mit.edu 37 5 168100299 168100299 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:168100299C>T ENST00000519560.1 - 33 4143 c.3724G>A c.(3724-3726)Gag>Aag p.E1242K SLIT3_ENST00000332966.8_Missense_Mutation_p.E1249K|SLIT3_ENST00000404867.3_Missense_Mutation_p.E1242K NM_001271946.1|NM_003062.2 NP_001258875.1|NP_003053.1 O75094 SLIT3_HUMAN slit homolog 3 (Drosophila) 1242 Laminin G-like. apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway extracellular space|mitochondrion calcium ion binding|Roundabout binding endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) GTCACCAGCTCCACACTGTGA 0.557000 11 126 0 0 1 0 0 KRTAP13-1 140258 broad.mit.edu 37 21 31768730 31768730 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr21:31768730C>T ENST00000355459.2 + 1 339 c.326C>T c.(325-327)tCc>tTc p.S109F NM_181599.2 NP_853630.2 Q8IUC0 KR131_HUMAN keratin associated protein 13-1 109 intermediate filament endometrium(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 AGCTGCCGCTCCCTGGGCTAT 0.597000 7 90 0 0 1 0 0 CDH6 1004 broad.mit.edu 37 5 31305356 31305356 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:31305356C>T ENST00000265071.2 + 7 1340 c.1075C>T c.(1075-1077)Ctc>Ttc p.L359F CDH6_ENST00000514738.1_Missense_Mutation_p.L304F NM_004932.3 NP_004923.1 P55285 CADH6_HUMAN cadherin 6, type 2, K-cadherin (fetal kidney) 359 Cadherin 3. adherens junction organization|cell junction assembly|homophilic cell adhesion cytoplasm|integral to membrane|nucleus|plasma membrane calcium ion binding NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 77 GCCACGATTTCTCTACTTGGG 0.458000 26 68 0 0 1 0 0 ZNF334 55713 broad.mit.edu 37 20 45129941 45129941 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr20:45129941C>T ENST00000457685.2 - 6 3246 c.1923G>A c.(1921-1923)aaG>aaA p.K641K ZNF334_ENST00000593880.1_Silent_p.K702K|ZNF334_ENST00000347606.4_Silent_p.K679K Q9HCZ1 ZN334_HUMAN zinc finger protein 334 679 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 32 Myeloproliferative disorder(115;0.0122) GAACTTATTCCTTGTGGGATT 0.308000 54 90 0 0 1 0 0 DNMT3A 1788 broad.mit.edu 37 2 25469526 25469526 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:25469526G>A ENST00000264709.3 - 10 1579 c.1242C>T c.(1240-1242)ttC>ttT p.F414F DNMT3A_ENST00000321117.5_Silent_p.F414F|DNMT3A_ENST00000380746.4_Silent_p.F225F|DNMT3A_ENST00000402667.1_Silent_p.F191F NM_175629.2 NP_783328.1 Q9Y6K1 DNM3A_HUMAN DNA (cytosine-5-)-methyltransferase 3 alpha 414 regulation of gene expression by genetic imprinting cytoplasm|euchromatin|nuclear matrix DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2) 1021 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CAGAAGGCTGGAAGCCCCCCA 0.632000 """Mis, F, N, S""" AML 72 141 0 0 1 0 0 PRDM5 11107 broad.mit.edu 37 4 121738038 121738038 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:121738038G>A ENST00000264808.3 - 6 932 c.692C>T c.(691-693)tCg>tTg p.S231L PRDM5_ENST00000515109.1_Intron|PRDM5_ENST00000428209.2_Intron NM_018699.2 NP_061169.2 Q9NQX1 PRDM5_HUMAN PR domain containing 5 231 histone deacetylation|histone H3-K9 methylation|mitotic cell cycle|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus repressing transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(17)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 AAAACTTCGCGAAGACTCCTT 0.378000 132 192 0 0 1 0 0 PPP1R26 9858 broad.mit.edu 37 9 138379789 138379789 + Missense_Mutation SNP C C A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:138379789C>A ENST00000356818.2 + 4 3982 c.3433C>A c.(3433-3435)Cca>Aca p.P1145T PPP1R26_ENST00000605286.1_Missense_Mutation_p.P1145T|PPP1R26_ENST00000604351.1_Missense_Mutation_p.P1145T|PPP1R26_ENST00000602993.1_Intron|PPP1R26_ENST00000401470.3_Missense_Mutation_p.P1145T|PPP1R26_ENST00000605660.1_Missense_Mutation_p.P1145T NM_014811.3 NP_055626.3 Q5T8A7 K0649_HUMAN protein phosphatase 1, regulatory subunit 26 1145 nucleolus protein binding CGGCCCCTGGCCAACCAGGAA 0.627000 18 36 1.67942e-08 1.68801e-08 1 1 0 PROX2 283571 broad.mit.edu 37 14 75330435 75330435 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr14:75330435C>T ENST00000556084.2 - 1 102 c.103G>A c.(103-105)Gat>Aat p.D35N PROX2_ENST00000556489.2_Missense_Mutation_p.D35N|PROX2_ENST00000445876.1_Missense_Mutation_p.D35N NM_001080408.2 NP_001073877.2 Q3B8N5 PROX2_HUMAN prospero homeobox 2 35 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding kidney(1)|large_intestine(2)|lung(3) 6 KIRC - Kidney renal clear cell carcinoma(43;0.238) BRCA - Breast invasive adenocarcinoma(234;0.00652) GAGTCTCTATCCAGCTCTGGA 0.572000 28 34 0 0 1 0 0 CDCP2 200008 broad.mit.edu 37 1 54606898 54606898 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:54606898G>A ENST00000371330.1 - 3 1483 c.636C>T c.(634-636)acC>acT p.T212T RP11-446E24.4_ENST00000525949.1_5'UTR NM_201546.2 NP_963840.2 Q5VXM1 CDCP2_HUMAN CUB domain containing protein 2 212 CUB 2. extracellular region kidney(1)|large_intestine(6)|lung(13)|ovary(1)|prostate(2)|stomach(1) 24 GGTGCCCACGGGTGGGGCCAG 0.637000 34 51 0 0 1 0 0 IGHMBP2 3508 broad.mit.edu 37 11 68704273 68704273 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:68704273G>A ENST00000255078.3 + 13 2436 c.2325G>A c.(2323-2325)ggG>ggA p.G775G NM_002180.2 NP_002171.2 P38935 SMBP2_HUMAN immunoglobulin mu binding protein 2 775 R3H. cell death|DNA recombination|DNA repair|DNA replication|protein homooligomerization|transcription, DNA-dependent|translation axon|growth cone|nucleus|ribonucleoprotein complex ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' RNA helicase activity|ribosome binding|single-stranded DNA binding|transcription factor binding|tRNA binding|zinc ion binding central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|liver(1)|lung(15)|ovary(2)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713) CCGGGGAAGGGAAGAGGAGGT 0.657000 23 38 0 0 1 0 0 C2orf71 388939 broad.mit.edu 37 2 29296491 29296491 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:29296491C>T ENST00000331664.5 - 1 636 c.637G>A c.(637-639)Gag>Aag p.E213K NM_001029883.2 NP_001025054.1 A6NGG8 CB071_HUMAN chromosome 2 open reading frame 71 213 response to stimulus|visual perception photoreceptor outer segment NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1) 60 TGCAGCAGCTCCCGGGTCTGG 0.552000 61 117 0 0 1 0 0 TENM1 10178 broad.mit.edu 37 X 123514883 123514883 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chrX:123514883C>T ENST00000422452.2 - 32 7765 c.7702G>A c.(7702-7704)Gaa>Aaa p.E2568K STAG2_ENST00000469481.1_Intron|TENM1_ENST00000371130.3_Missense_Mutation_p.E2561K NM_001163278.1|NM_001163279.1 NP_001156750.1|NP_001156751.1 teneurin transmembrane protein 1 TGTAGGTTTTCCAGGTAATGG 0.473000 62 37 0 0 1 0 0 SHOX 6473 broad.mit.edu 37 X 591739 591739 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chrX:591739G>A ENST00000381578.1 + 2 798 c.107G>A c.(106-108)cGg>cAg p.R36Q SHOX_ENST00000334060.3_Missense_Mutation_p.R36Q|SHOX_ENST00000554971.1_Missense_Mutation_p.R36Q|SHOX_ENST00000381575.1_Missense_Mutation_p.R36Q NM_000451.3 NP_000442.1 O15266 SHOX_HUMAN short stature homeobox 36 skeletal system development|transcription from RNA polymerase II promoter nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(3)|lung(9)|prostate(1) 13 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) ATTACGTACCGGGAAGTTTTG 0.617000 203 96 0 0 1 0 0 TDRD3 81550 broad.mit.edu 37 13 61102825 61102825 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr13:61102825C>T ENST00000196169.3 + 11 1975 c.1187C>T c.(1186-1188)tCt>tTt p.S396F TDRD3_ENST00000535286.1_Missense_Mutation_p.S489F|TDRD3_ENST00000377881.2_Missense_Mutation_p.S396F|TDRD3_ENST00000377894.2_Missense_Mutation_p.S396F NM_001146071.1|NM_030794.2 NP_001139543.1|NP_110421.1 Q9H7E2 TDRD3_HUMAN tudor domain containing 3 396 chromatin modification cytoplasm|nucleus chromatin binding|methylated histone residue binding|nucleic acid binding|transcription coactivator activity breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 40 Prostate(109;0.173)|Breast(118;0.174) GBM - Glioblastoma multiforme(99;0.000291) CCTTTAGGTTCTCAGCATAGT 0.378000 5 102 0 0 1 0 0 PCDHGA10 56106 broad.mit.edu 37 5 140793398 140793398 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:140793398C>T ENST00000398610.2 + 1 656 c.656C>T c.(655-657)tCc>tTc p.S219F PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB6_ENST00000520790.1_Intron NM_018913.2|NM_032090.1 NP_061736.1|NP_114479.1 breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTCACCGCCTCCGACGGGGGT 0.592000 6 80 0 0 1 0 0 FAM9B 171483 broad.mit.edu 37 X 8996009 8996009 + Splice_Site SNP T T C TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chrX:8996009T>C ENST00000362066.3 - 6 702 c.e6-2 FAM9B_ENST00000428477.1_Splice_Site|FAM9B_ENST00000327220.5_Splice_Site Q8IZU0 FAM9B_HUMAN family with sequence similarity 9, member B nucleus breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|urinary_tract(1) 11 Hepatocellular(5;0.219) AAATATTCTCTAGAATCCCAA 0.318000 29 56 0 0 1 0 0 SLC35F4 341880 broad.mit.edu 37 14 58038651 58038651 + Silent SNP T T C TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr14:58038651T>C ENST00000556826.1 - 5 1130 c.894A>G c.(892-894)gcA>gcG p.A298A SLC35F4_ENST00000339762.6_Silent_p.A334A|SLC35F4_ENST00000554729.1_Silent_p.A175A NM_001206920.1 NP_001193849.1 solute carrier family 35, member F4 breast(1)|endometrium(4)|large_intestine(3)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 CCACCGCAAATGCCACTCCTA 0.403000 8 20 0 0 1 0 0 MNDA 4332 broad.mit.edu 37 1 158813766 158813766 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:158813766G>A ENST00000368141.4 + 4 685 c.424G>A c.(424-426)Gaa>Aaa p.E142K NM_002432.1 NP_002423.1 P41218 MNDA_HUMAN myeloid cell nuclear differentiation antigen 142 B cell receptor signaling pathway|cellular defense response|negative regulation of B cell proliferation|positive regulation of apoptosis|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent cytoplasm|nucleus DNA binding NS(2)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(26)|ovary(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 65 all_hematologic(112;0.0378) TCCAAACAAAGAAAAGACTGA 0.413000 98 146 0 0 1 0 0 CTNNA2 1496 broad.mit.edu 37 2 79971636 79971636 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:79971636G>A ENST00000466387.1 + 7 950 c.226G>A c.(226-228)Gaa>Aaa p.E76K CTNNA2_ENST00000496558.1_Missense_Mutation_p.E76K|CTNNA2_ENST00000541047.1_Missense_Mutation_p.E76K|CTNNA2_ENST00000361291.4_Missense_Mutation_p.E110K|CTNNA2_ENST00000402739.4_Missense_Mutation_p.E76K|CTNNA2_ENST00000540488.1_Missense_Mutation_p.E76K P26232 CTNA2_HUMAN catenin (cadherin-associated protein), alpha 2 76 axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity actin cytoskeleton|axon|cytosol cadherin binding|structural constituent of cytoskeleton breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 78 GGAAAAGGGTGAACAGATCGC 0.458000 20 39 0 0 1 0 0 AKAP11 11215 broad.mit.edu 37 13 42866541 42866541 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr13:42866541C>T ENST00000025301.2 + 4 247 c.72C>T c.(70-72)ttC>ttT p.F24F NM_016248.3 NP_057332.1 Q9UKA4 AKA11_HUMAN A kinase (PRKA) anchor protein 11 24 intracellular protein kinase cascade microtubule organizing center protein kinase A binding|protein phosphatase 1 binding breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(2) 56 Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114) OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19) AAGATGTGTTCCAGTCTGTAA 0.388000 28 52 0 0 1 0 0 SEC1P 653677 broad.mit.edu 37 19 49183664 49183664 + RNA SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:49183664G>A ENST00000430145.2 + 0 751 NR_004401.2 TGAACGACTGGATGGAGGAGG 0.657000 23 51 0 0 1 0 0 HOXB1 3211 broad.mit.edu 37 17 46607895 46607895 + Silent SNP G G A rs144527787 TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:46607895G>A ENST00000239174.6 - 1 464 c.372C>T c.(370-372)tcC>tcT p.S124S HOXB1_ENST00000577092.1_Silent_p.S124S NM_002144.3 NP_002135.2 P14653 HXB1_HUMAN homeobox B1 124 nucleus protein domain specific binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 30 CGTAGCCATCGGACAAGCCCC 0.622000 10 145 0 0 1 0 0 KCTD19 146212 broad.mit.edu 37 16 67327935 67327935 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr16:67327935C>T ENST00000304372.5 - 12 1785 c.1730G>A c.(1729-1731)cGa>cAa p.R577Q NM_001100915.1 NP_001094385.1 Q17RG1 KCD19_HUMAN potassium channel tetramerization domain containing 19 577 voltage-gated potassium channel complex voltage-gated potassium channel activity endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3) 23 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906) CTTGGCATTTCGGCATAGGGA 0.582000 96 97 0 0 1 0 0 EPB41L3 23136 broad.mit.edu 37 18 5397308 5397308 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr18:5397308C>T ENST00000341928.2 - 18 2930 c.2590G>A c.(2590-2592)Gtg>Atg p.V864M EPB41L3_ENST00000542146.1_Missense_Mutation_p.V169M|EPB41L3_ENST00000544123.1_Missense_Mutation_p.V695M|EPB41L3_ENST00000427684.2_Missense_Mutation_p.V161M|EPB41L3_ENST00000540638.2_Missense_Mutation_p.V642M|EPB41L3_ENST00000400111.3_Missense_Mutation_p.V642M|EPB41L3_ENST00000342933.3_Missense_Mutation_p.V864M|EPB41L3_ENST00000542652.2_5'UTR NM_012307.2 NP_036439.2 Q9Y2J2 E41L3_HUMAN erythrocyte membrane protein band 4.1-like 3 864 Carboxyl-terminal (CTD). cortical actin cytoskeleton organization cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane actin binding|structural molecule activity breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 105 CTCGCGTGCACCACACGCCGC 0.612000 5 141 0 0 1 0 0 KAT6B 23522 broad.mit.edu 37 10 76602947 76602947 + Missense_Mutation SNP T T C TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:76602947T>C ENST00000287239.4 + 3 821 c.332T>C c.(331-333)tTa>tCa p.L111S KAT6B_ENST00000372711.1_Missense_Mutation_p.L111S|KAT6B_ENST00000372714.1_Missense_Mutation_p.L111S|KAT6B_ENST00000372724.1_Missense_Mutation_p.L111S|KAT6B_ENST00000372725.1_Missense_Mutation_p.L111S NM_001256468.1|NM_012330.3 NP_001243397.1|NP_036462.2 Q8WYB5 MYST4_HUMAN K(lysine) acetyltransferase 6B 111 H15. histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent MOZ/MORF histone acetyltransferase complex|nucleosome DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding p.N108_R112delNKLLR(1) AATAAACTTTTAAGGAGAGCA 0.453000 100 182 0 0 1 0 0 ARHGAP1 392 broad.mit.edu 37 11 46709721 46709721 + Splice_Site SNP A A C TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:46709721A>C ENST00000311956.4 - 4 415 c.e4+1 NM_004308.2 NP_004299.1 Q07960 RHG01_HUMAN Rho GTPase activating protein 1 Rho protein signal transduction cytosol|intracellular membrane-bounded organelle SH3 domain binding|SH3/SH2 adaptor activity endometrium(1)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 11 Lung NSC(402;1.76e-12)|all_lung(304;1.3e-11) GBM - Glioblastoma multiforme(35;5.17e-06)|BRCA - Breast invasive adenocarcinoma(625;0.00112)|Lung(87;0.153) GCAGGTACTCACCCCAGGAGC 0.567000 4 29 0 0 1 0 0 OSR2 116039 broad.mit.edu 37 8 99961236 99961236 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:99961236C>T ENST00000297565.4 + 2 552 c.56C>T c.(55-57)aCc>aTc p.T19I OSR2_ENST00000522510.1_Missense_Mutation_p.T19I|OSR2_ENST00000435298.2_Missense_Mutation_p.T19I|OSR2_ENST00000457907.2_Missense_Mutation_p.T140I|OSR2_ENST00000523368.1_Missense_Mutation_p.T19I NM_001142462.1 NP_001135934.1 Q8N2R0 OSR2_HUMAN odd-skipped related transciption factor 2 19 bone morphogenesis|chondrocyte differentiation|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic hindlimb morphogenesis|embryonic leg joint morphogenesis|embryonic skeletal joint morphogenesis|eyelid development in camera-type eye|head development|mesonephros development|metanephros development|middle ear morphogenesis|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|osteoblast proliferation|palate development|positive regulation of bone mineralization|positive regulation of epithelial cell proliferation|positive regulation of transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|zinc ion binding NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 Breast(36;4.14e-07) OV - Ovarian serous cystadenocarcinoma(57;0.0136) CTGCAGCTCACCAATTACTCC 0.632000 24 63 0 0 1 0 0 WBSCR16 81554 broad.mit.edu 37 7 74486579 74486579 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:74486579G>A ENST00000503250.2 - 2 398 c.329C>T c.(328-330)tCa>tTa p.S110L WBSCR16_ENST00000543840.1_Missense_Mutation_p.S110L|WBSCR16_ENST00000329959.4_Missense_Mutation_p.S110L Q96I51 WBS16_HUMAN Williams-Beuren syndrome chromosome region 16 110 kidney(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1) 4 AGCAGCAGATGAAATCTGAAA 0.413000 38 160 0 0 1 0 0 OBSCN 84033 broad.mit.edu 37 1 228548033 228548033 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:228548033C>T ENST00000284548.11 + 81 19514 c.19440C>T c.(19438-19440)ttC>ttT p.F6480F OBSCN_ENST00000366707.4_Intron|OBSCN_ENST00000422127.1_Intron|OBSCN_ENST00000570156.2_Intron|OBSCN_ENST00000366709.4_Silent_p.F3599F Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 0 Protein kinase 1. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) GGGAGACCTTCCACTGTGGTG 0.652000 76 76 0 0 1 0 0 SNAP91 9892 broad.mit.edu 37 6 84375276 84375276 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:84375276G>A ENST00000428679.2 - 3 748 c.155C>T c.(154-156)aCc>aTc p.T52I SNAP91_ENST00000521743.1_Missense_Mutation_p.T52I|SNAP91_ENST00000520302.1_Missense_Mutation_p.T52I|SNAP91_ENST00000521485.1_Missense_Mutation_p.T52I|SNAP91_ENST00000437520.1_Missense_Mutation_p.T52I|SNAP91_ENST00000520213.1_Missense_Mutation_p.T52I|SNAP91_ENST00000369694.2_Missense_Mutation_p.T52I|SNAP91_ENST00000439399.2_Missense_Mutation_p.T52I|SNAP91_ENST00000195649.6_Missense_Mutation_p.T52I O60641 AP180_HUMAN synaptosomal-associated protein, 91kDa 52 ENTH. clathrin coat assembly clathrin coat|coated pit|plasma membrane 1-phosphatidylinositol binding|clathrin binding breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(22)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 37 all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575) BRCA - Breast invasive adenocarcinoma(397;0.0967) ATTAACATTGGTCTCGTTGGT 0.363000 57 36 0 0 1 0 0 SRGAP3 9901 broad.mit.edu 37 3 9032507 9032507 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:9032507C>T ENST00000383836.3 - 21 3002 c.2575G>A c.(2575-2577)Gat>Aat p.D859N SRGAP3_ENST00000360413.3_Missense_Mutation_p.D835N NM_014850.3 NP_055665.1 O43295 SRGP2_HUMAN SLIT-ROBO Rho GTPase activating protein 3 859 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|protein binding SRGAP3/RAF1(6) breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 54 OV - Ovarian serous cystadenocarcinoma(96;0.0563) GCTGCTCCATCAGATCGTAAC 0.672000 T RAF1 pilocytic astrocytoma 3 14 0 0 1 0 0 NLRP11 204801 broad.mit.edu 37 19 56300336 56300336 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:56300336C>T ENST00000443188.1 - 11 3402 c.2692G>A c.(2692-2694)Gag>Aag p.E898K NLRP11_ENST00000592953.1_Missense_Mutation_p.E799K|NLRP11_ENST00000589824.2_Missense_Mutation_p.E844K|NLRP11_ENST00000589093.1_Missense_Mutation_p.E898K|NLRP11_ENST00000360133.3_Missense_Mutation_p.E844K NM_145007.3 NP_659444.2 P59045 NAL11_HUMAN NLR family, pyrin domain containing 11 898 ATP binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3) 66 Colorectal(82;0.0002) GBM - Glioblastoma multiforme(193;0.0325) AACATGCACTCTTCTAGCCTG 0.468000 25 59 0 0 1 0 0 OR4X2 119764 broad.mit.edu 37 11 48267433 48267433 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:48267433G>A ENST00000302329.3 + 1 826 c.778G>A c.(778-780)Gac>Aac p.D260N NM_001004727.1 NP_001004727.1 Q8NGF9 OR4X2_HUMAN olfactory receptor, family 4, subfamily X, member 2 260 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|large_intestine(4)|lung(12)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1) 20 TCTGCCCATAGACAAGATGGT 0.512000 26 60 0 0 1 0 0 GUCY2C 2984 broad.mit.edu 37 12 14798200 14798200 + Nonsense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:14798200C>T ENST00000261170.3 - 16 1896 c.1760G>A c.(1759-1761)tGg>tAg p.W587* NM_004963.3 NP_004954.2 P25092 GUC2C_HUMAN guanylate cyclase 2C (heat stable enterotoxin receptor) 587 Protein kinase. intracellular signal transduction|receptor guanylyl cyclase signaling pathway integral to membrane ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1) 51 CTTAAACTCCCAATCCATGAA 0.323000 25 92 0 0 1 0 0 ACADSB 36 broad.mit.edu 37 10 124810603 124810603 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:124810603G>A ENST00000358776.4 + 9 1043 c.1029G>A c.(1027-1029)ctG>ctA p.L343L ACADSB_ENST00000368869.4_Silent_p.L241L NM_001609.3 NP_001600.1 P45954 ACDSB_HUMAN acyl-CoA dehydrogenase, short/branched chain 343 branched chain family amino acid catabolic process|fatty acid metabolic process mitochondrial matrix flavin adenine dinucleotide binding breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 17 all_neural(114;0.0765)|Colorectal(57;0.102)|all_lung(145;0.11)|Lung NSC(174;0.163) Colorectal(40;0.0811)|COAD - Colon adenocarcinoma(40;0.0835) L-Isoleucine(DB00167) CCACCCAGCTGGAAGCTGCAA 0.458000 17 35 0 0 1 0 0 LDLRAD2 401944 broad.mit.edu 37 1 22141033 22141033 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:22141033G>A ENST00000344642.2 + 2 415 c.228G>A c.(226-228)cgG>cgA p.R76R LDLRAD2_ENST00000543870.1_Silent_p.R76R NM_001013693.2 NP_001013715.2 Q5SZI1 LRAD2_HUMAN low density lipoprotein receptor class A domain containing 2 76 integral to membrane receptor activity endometrium(2)|large_intestine(1)|lung(3) 6 Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.00166)|all_lung(284;0.00172)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427) UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;5.2e-26)|COAD - Colon adenocarcinoma(152;1.13e-05)|GBM - Glioblastoma multiforme(114;1.36e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000544)|KIRC - Kidney renal clear cell carcinoma(1967;0.00598)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.197) CCGGCGACCGGATCCGCTTCC 0.741000 31 67 0 0 1 0 0 ALPK2 115701 broad.mit.edu 37 18 56202183 56202183 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr18:56202183C>T ENST00000361673.3 - 5 5449 c.5236G>A c.(5236-5238)Gaa>Aaa p.E1746K NM_052947.3 NP_443179.3 Q86TB3 ALPK2_HUMAN alpha-kinase 2 1746 ATP binding|protein serine/threonine kinase activity NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2) 84 CTGATATTTTCCTTTTCTTCC 0.433000 57 119 0 0 1 0 0 SCUBE1 80274 broad.mit.edu 37 22 43658741 43658741 + Nonsense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr22:43658741G>A ENST00000360835.3 - 5 721 c.595C>T c.(595-597)Cag>Tag p.Q199* SCUBE1_ENST00000290460.7_Nonsense_Mutation_p.Q199* NM_173050.3 NP_766638.2 Q8IWY4 SCUB1_HUMAN signal peptide, CUB domain, EGF-like 1 199 EGF-like 4 (Potential). adult heart development|blood coagulation|endothelial cell differentiation|inflammatory response|post-embryonic development|protein homooligomerization external side of plasma membrane|extracellular space|extrinsic to plasma membrane calcium ion binding|identical protein binding|protein heterodimerization activity autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(4)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 all_neural(38;0.0414)|Ovarian(80;0.07) CAGTCCTTCTGGTTTTGGGCA 0.582000 6 200 0 0 1 0 0 DGAT2 84649 broad.mit.edu 37 11 75495782 75495782 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:75495782C>T ENST00000228027.7 + 2 501 c.241C>T c.(241-243)Ctt>Ttt p.L81F DGAT2_ENST00000376262.3_Intron NM_032564.4 NP_115953.2 Q96PD7 DGAT2_HUMAN diacylglycerol O-acyltransferase 2 81 glycerol metabolic process|triglyceride biosynthetic process endoplasmic reticulum membrane|integral to membrane diacylglycerol O-acyltransferase activity endometrium(3)|large_intestine(5)|lung(5)|prostate(2)|skin(2) 17 Ovarian(111;0.103) CCTGTCCTTCCTTGTACTGGG 0.587000 72 106 0 0 1 0 0 TRIB3 57761 broad.mit.edu 37 20 368771 368771 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr20:368771C>T ENST00000217233.3 + 2 670 c.117C>T c.(115-117)ccC>ccT p.P39P TRIB3_ENST00000422053.2_Silent_p.P66P|TRIB3_ENST00000485293.1_3'UTR NM_021158.3 NP_066981.2 Q96RU7 TRIB3_HUMAN tribbles pseudokinase 3 39 apoptosis|cellular lipid metabolic process|insulin receptor signaling pathway|negative regulation of fat cell differentiation|negative regulation of fatty acid biosynthetic process|negative regulation of protein kinase activity|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of protein binding|positive regulation of ubiquitin-protein ligase activity|regulation of glucose transport|regulation of MAP kinase activity|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent cytosol|nucleus|plasma membrane ATP binding|protein kinase activity|protein kinase binding|protein kinase inhibitor activity|transcription corepressor activity|ubiquitin protein ligase binding|ubiquitin-protein ligase regulator activity breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(3)|lung(9)|ovary(2)|skin(1) 21 all_epithelial(17;0.165)|Lung NSC(37;0.191)|Breast(17;0.231) Colorectal(46;0.101)|COAD - Colon adenocarcinoma(99;0.112) GAAGTGGGCCCCAGCCCAGAC 0.627000 52 117 0 0 1 0 0 TNC 3371 broad.mit.edu 37 9 117852892 117852892 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:117852892G>A ENST00000350763.4 - 2 817 c.406C>T c.(406-408)Ctg>Ttg p.L136L TNC_ENST00000542877.1_Silent_p.L136L|TNC_ENST00000537320.1_Silent_p.L136L|TNC_ENST00000341037.4_Silent_p.L136L|TNC_ENST00000345230.3_Silent_p.L136L|TNC_ENST00000423613.2_Silent_p.L136L|TNC_ENST00000535648.1_Silent_p.L136L|TNC_ENST00000340094.3_Silent_p.L136L|TNC_ENST00000346706.3_Silent_p.L136L NM_002160.3 NP_002151.2 P24821 TENA_HUMAN tenascin C 136 cell adhesion|response to wounding|signal transduction extracellular space receptor binding|syndecan binding NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 120 TGCTCCCTCAGGGAAGACACC 0.612000 112 204 0 0 1 0 0 TPRG1 285386 broad.mit.edu 37 3 188956521 188956521 + Splice_Site SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:188956521G>A ENST00000345063.3 + 4 469 c.e4-1 TPRG1-AS2_ENST00000425454.1_RNA|TPRG1_ENST00000433971.1_Splice_Site NM_198485.3 NP_940887.1 Q6ZUI0 TPRG1_HUMAN tumor protein p63 regulated 1 endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|skin(2)|urinary_tract(1) 16 all_cancers(143;6.12e-12)|all_hematologic(3;0.0359)|Ovarian(172;0.0925) all_lung(153;8.23e-09)|Lung NSC(153;3.55e-06)|all_neural(597;0.0019)|Myeloproliferative disorder(1037;0.0255) Lung(62;6.93e-06) GBM - Glioblastoma multiforme(93;4.77e-14) GATTCCTATAGGATAGACCAC 0.398000 38 77 0 0 1 0 0 DDI1 414301 broad.mit.edu 37 11 103907827 103907827 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:103907827C>T ENST00000302259.3 + 1 520 c.277C>T c.(277-279)Cgt>Tgt p.R93C PDGFD_ENST00000302251.5_Intron|PDGFD_ENST00000393158.2_Intron NM_001001711.2 NP_001001711.1 Q8WTU0 DDI1_HUMAN DNA-damage inducible 1 homolog 1 (S. cerevisiae) 93 proteolysis aspartic-type endopeptidase activity central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(12)|liver(2)|lung(21)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 52 Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164) BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169) GAACCAGCCTCGTGTAGACTT 0.632000 9 156 0 0 1 0 0 BLOC1S3 388552 broad.mit.edu 37 19 45682563 45682563 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:45682563C>T ENST00000433642.2 + 2 105 c.9C>T c.(7-9)tcC>tcT p.S3S BLOC1S3_ENST00000587722.1_Silent_p.S3S NM_212550.3 NP_997715.1 Q6QNY0 BL1S3_HUMAN biogenesis of lysosomal organelles complex-1, subunit 3 3 cellular membrane organization|eye development|melanosome organization|platelet activation|platelet dense granule organization|post-Golgi vesicle-mediated transport BLOC-1 complex identical protein binding ovary(1)|skin(1) 2 Ovarian(192;0.0728)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.00863)|GBM - Glioblastoma multiforme(486;0.231) CCATGGCGTCCCAGGGTCGTC 0.701000 Hermansky-Pudlak syndrome 18 24 0 0 1 0 0 DNAH3 55567 broad.mit.edu 37 16 20944818 20944818 + Missense_Mutation SNP T T G TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr16:20944818T>G ENST00000261383.3 - 62 12008 c.12009A>C c.(12007-12009)caA>caC p.Q4003H DNAH3_ENST00000415178.1_3'UTR NM_017539.1 NP_060009.1 Q8TD57 DYH3_HUMAN dynein, axonemal, heavy chain 3 4003 ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6) 202 GBM - Glioblastoma multiforme(48;0.207) TCACTGTTTCTTGTGGGGTTA 0.468000 29 51 0 0 1 0 0 RELN 5649 broad.mit.edu 37 7 103629713 103629713 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:103629713G>A ENST00000428762.1 - 1 250 c.91C>T c.(91-93)Ccc>Tcc p.P31S RELN_ENST00000424685.2_Missense_Mutation_p.P31S|RELN_ENST00000343529.5_Missense_Mutation_p.P31S NM_005045.3 NP_005036.2 P78509 RELN_HUMAN reelin 31 Reelin. axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2) 227 COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184) GAAAAGCGGGGGTAATAGCCA 0.672000 21 76 0 0 1 0 0 GREB1 9687 broad.mit.edu 37 2 11758438 11758438 + Missense_Mutation SNP C C T rs147686450 by1000genomes TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:11758438C>T ENST00000381486.2 + 22 3737 c.3437C>T c.(3436-3438)tCg>tTg p.S1146L GREB1_ENST00000234142.5_Missense_Mutation_p.S1146L|GREB1_ENST00000396123.1_Missense_Mutation_p.S144L NM_014668.3 NP_055483.2 Q4ZG55 GREB1_HUMAN growth regulation by estrogen in breast cancer 1 1146 Ser-rich. integral to membrane breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1) 30 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186) GGCGAGTCCTCGGCTCAGCCC 0.662000 29 58 0 0 1 0 0 BSND 7809 broad.mit.edu 37 1 55472836 55472836 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:55472836G>A ENST00000371265.4 + 3 693 c.439G>A c.(439-441)Gga>Aga p.G147R NM_057176.2 NP_476517.1 Q8WZ55 BSND_HUMAN Bartter syndrome, infantile, with sensorineural deafness (Barttin) 147 basolateral plasma membrane|cytoplasm|integral to plasma membrane|protein complex cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 17 CAGTGATGGAGGAGAAGGTGG 0.597000 36 80 0 0 1 0 0 ATP13A4 84239 broad.mit.edu 37 3 193174932 193174932 + Missense_Mutation SNP T T G TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:193174932T>G ENST00000342695.4 - 16 2094 c.1772A>C c.(1771-1773)gAa>gCa p.E591A ATP13A4_ENST00000392443.3_Missense_Mutation_p.E572A NM_032279.2 NP_115655.2 Q4VNC1 AT134_HUMAN ATPase type 13A4 591 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2) 71 all_cancers(143;1.76e-08)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;0.000109) TGCAATTCCTTCCACTGGGAC 0.463000 37 64 0 0 1 0 0 PYROXD2 84795 broad.mit.edu 37 10 100152756 100152756 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:100152756G>A ENST00000370575.4 - 9 918 c.870C>T c.(868-870)ctC>ctT p.L290L PYROXD2_ENST00000483923.1_5'UTR NM_032709.2 NP_116098.2 Q8N2H3 PYRD2_HUMAN pyridine nucleotide-disulphide oxidoreductase domain 2 290 oxidoreductase activity central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(3)|prostate(1)|upper_aerodigestive_tract(1) 12 TCGCATCAGAGAGGGCACCCA 0.592000 6 94 0 0 1 0 0 SPATA31D1 389763 broad.mit.edu 37 9 84606577 84606577 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:84606577C>T ENST00000344803.2 + 4 1239 c.1192C>T c.(1192-1194)Ctc>Ttc p.L398F NM_001001670.2 NP_001001670.1 SPATA31 subfamily D, member 1 TGTGGCCAACCTCATAGAGCC 0.448000 20 48 0 0 1 0 0 TNXB 7148 broad.mit.edu 37 6 32010349 32010349 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:32010349C>T ENST00000375244.3 - 40 12294 c.12093G>A c.(12091-12093)ggG>ggA p.G4031G TNXB_ENST00000375247.2_Silent_p.G4029G|TNXB_ENST00000451343.1_Silent_p.G460G P22105 TENX_HUMAN tenascin XB 4076 Fibronectin type-III 32. actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction extracellular space|intracellular|proteinaceous extracellular matrix heparin binding|integrin binding endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1) 8 GCATCTCCTCCCCGCAGTCCC 0.662000 11 30 0 0 1 0 0 SCN11A 11280 broad.mit.edu 37 3 38936213 38936213 + Silent SNP G G A rs141598286 TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:38936213G>A ENST00000302328.3 - 15 2844 c.2646C>T c.(2644-2646)ccC>ccT p.P882P SCN11A_ENST00000444237.2_Silent_p.P882P|SCN11A_ENST00000456224.3_Silent_p.P882P|SCN11A_ENST00000450244.1_Silent_p.P882P NM_014139.2 NP_054858.2 Q9UI33 SCNBA_HUMAN sodium channel, voltage-gated, type XI, alpha subunit 882 response to drug voltage-gated sodium channel complex voltage-gated sodium channel activity NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3) 119 Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226) Cocaine(DB00907) CCATGACCAGGGGAATGATGT 0.507000 51 133 0 0 1 0 0 TRHDE 29953 broad.mit.edu 37 12 72863621 72863621 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:72863621G>A ENST00000261180.4 + 4 1360 c.1264G>A c.(1264-1266)Gat>Aat p.D422N NM_013381.2 NP_037513.1 Q9UKU6 TRHDE_HUMAN thyrotropin-releasing hormone degrading enzyme 422 cell-cell signaling|proteolysis|signal transduction integral to plasma membrane aminopeptidase activity|metallopeptidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 79 AATACTGCTGGATCCCAGTGT 0.373000 37 53 0 0 1 0 0 FREM1 158326 broad.mit.edu 37 9 14788961 14788961 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:14788961G>A ENST00000380881.4 - 24 4951 c.4136C>T c.(4135-4137)tCc>tTc p.S1379F FREM1_ENST00000422223.2_Missense_Mutation_p.S1378F|FREM1_ENST00000380880.3_Missense_Mutation_p.S1378F Q5H8C1 FREM1_HUMAN FRAS1 related extracellular matrix 1 1378 cell communication|multicellular organismal development basement membrane|integral to membrane metal ion binding|sugar binding breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 GBM - Glioblastoma multiforme(50;3.53e-06) AAGAGCAGGGGACCTGTTGTT 0.453000 21 7 0 0 1 0 0 C7 730 broad.mit.edu 37 5 40981670 40981670 + Nonsense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:40981670C>T ENST00000313164.9 + 18 2886 c.2527C>T c.(2527-2529)Cag>Tag p.Q843* NM_000587.2 NP_000578.2 P10643 CO7_HUMAN complement component 7 843 Complement control factor I module 2. complement activation, alternative pathway|complement activation, classical pathway|cytolysis extracellular region|membrane attack complex Ovarian(839;0.0112) TGCGGAAACCCAGTAGGCTCC 0.587000 9 35 0 0 1 0 0 PKHD1L1 93035 broad.mit.edu 37 8 110451201 110451201 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:110451201G>A ENST00000378402.5 + 32 3940 c.3836G>A c.(3835-3837)gGa>gAa p.G1279E NM_177531.4 NP_803875.2 Q86WI1 PKHL1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 1279 IPT/TIG 6. immune response cytosol|extracellular space|integral to membrane receptor activity NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4) 263 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) TATGTTGGAGGAAAAACCTGC 0.343000 HNSCC(38;0.096) 43 69 0 0 1 0 0 DNAH9 1770 broad.mit.edu 37 17 11726188 11726188 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:11726188C>T ENST00000262442.3 + 48 9151 c.9083C>T c.(9082-9084)tCt>tTt p.S3028F DNAH9_ENST00000454412.2_Missense_Mutation_p.S3028F NM_001372.3 NP_001363.2 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 3028 AAA 4 (By similarity). cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4) 290 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) ACATCCCAGTCTTATCTGAGC 0.433000 41 88 0 0 1 0 0 DGAT2 84649 broad.mit.edu 37 11 75495780 75495780 + Missense_Mutation SNP T T A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:75495780T>A ENST00000228027.7 + 2 499 c.239T>A c.(238-240)tTc>tAc p.F80Y DGAT2_ENST00000376262.3_Intron NM_032564.4 NP_115953.2 Q96PD7 DGAT2_HUMAN diacylglycerol O-acyltransferase 2 80 glycerol metabolic process|triglyceride biosynthetic process endoplasmic reticulum membrane|integral to membrane diacylglycerol O-acyltransferase activity endometrium(3)|large_intestine(5)|lung(5)|prostate(2)|skin(2) 17 Ovarian(111;0.103) GTCCTGTCCTTCCTTGTACTG 0.587000 65 120 0 0 1 0 0 CDH26 60437 broad.mit.edu 37 20 58569464 58569464 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr20:58569464C>T ENST00000348616.4 + 11 1886 c.1586C>T c.(1585-1587)cCg>cTg p.P529L CDH26_ENST00000244047.5_Missense_Mutation_p.P529L|CDH26_ENST00000497614.1_3'UTR NM_177980.2 NP_817089.1 Q8IXH8 CAD26_HUMAN cadherin 26 529 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.P529L(2) breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(11)|lung(14)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1) 44 all_lung(29;0.00963) BRCA - Breast invasive adenocarcinoma(7;5.58e-09) GACCTGGAGCCGTTCTCTGAC 0.532000 31 58 0 0 1 0 0 VIL1 7429 broad.mit.edu 37 2 219297618 219297618 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:219297618G>A ENST00000248444.5 + 13 1532 c.1444G>A c.(1444-1446)Ggc>Agc p.G482S VIL1_ENST00000392114.2_Missense_Mutation_p.G171S NM_007127.2 NP_009058.2 P09327 VILI_HUMAN villin 1 482 Core. actin filament capping|actin filament depolymerization|actin filament polymerization|actin filament severing|apoptosis|cellular response to epidermal growth factor stimulus|cytoplasmic actin-based contraction involved in cell motility|epidermal growth factor receptor signaling pathway|positive regulation of actin filament bundle assembly|positive regulation of epithelial cell migration|regulation of actin nucleation|regulation of cell shape|regulation of lamellipodium morphogenesis|regulation of wound healing|response to bacterium actin filament bundle|cytoplasm|filopodium tip|intracellular membrane-bounded organelle|lamellipodium|microvillus|ruffle actin filament binding|calcium ion binding|caspase inhibitor activity|lysophosphatidic acid binding|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 Renal(207;0.0474) Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) GGTCCCAATGGGCAAGGAGCC 0.537000 16 47 0 0 1 0 0 ADAM29 11086 broad.mit.edu 37 4 175897377 175897377 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:175897377C>T ENST00000359240.3 + 5 1371 c.701C>T c.(700-702)tCc>tTc p.S234F ADAM29_ENST00000445694.1_Missense_Mutation_p.S234F|ADAM29_ENST00000404450.4_Missense_Mutation_p.S234F|ADAM29_ENST00000514159.1_Missense_Mutation_p.S234F NM_001278125.1|NM_014269.4 NP_001265054.1|NP_055084.3 Q9UKF5 ADA29_HUMAN ADAM metallopeptidase domain 29 234 Peptidase M12B. proteolysis|spermatogenesis integral to plasma membrane metalloendopeptidase activity|zinc ion binding p.S234F(1) NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2) 93 Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286) ATAGTGGATTCCATTTTGGAT 0.343000 55 92 0 0 1 0 0 TCEANC 170082 broad.mit.edu 37 X 13681194 13681194 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chrX:13681194C>T ENST00000380600.1 + 2 654 c.567C>T c.(565-567)tcC>tcT p.S189S TCEANC_ENST00000490617.1_3'UTR|TCEANC_ENST00000544987.1_Silent_p.S189S|TCEANC_ENST00000314720.4_Silent_p.S219S|TCEANC_ENST00000545566.1_Silent_p.S189S Q8N8B7 TEANC_HUMAN transcription elongation factor A (SII) N-terminal and central domain containing 189 TFIIS central. regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleus DNA binding central_nervous_system(1)|large_intestine(5)|lung(2)|pancreas(1) 9 CTAGTTCTTCCACAGATCAAC 0.383000 5 118 0 0 1 0 0 CD1C 911 broad.mit.edu 37 1 158261016 158261016 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:158261016G>A ENST00000368170.3 + 2 433 c.154G>A c.(154-156)Gag>Aag p.E52K NM_001765.2 NP_001756.2 P29017 CD1C_HUMAN CD1c molecule 52 antigen processing and presentation|T cell activation involved in immune response endosome membrane|integral to plasma membrane endogenous lipid antigen binding|exogenous lipid antigen binding|glycolipid binding|lipopeptide binding NS(1)|endometrium(3)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1) 39 all_hematologic(112;0.0378) ATGGCTGGACGAGTTGCAGAC 0.498000 36 107 0 0 1 0 0 HCRTR2 3062 broad.mit.edu 37 6 55128600 55128600 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:55128600C>T ENST00000370862.3 + 4 1078 c.742C>T c.(742-744)Cgc>Tgc p.R248C NM_001526.3 NP_001517.2 O43614 OX2R_HUMAN hypocretin (orexin) receptor 2 248 feeding behavior integral to plasma membrane neuropeptide receptor activity p.R248C(1) breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 46 Lung NSC(77;0.107)|Renal(3;0.122) LUSC - Lung squamous cell carcinoma(124;0.23) GCAAATATTTCGCAAACTCTG 0.373000 13 58 0 0 1 0 0 FTCD 10841 broad.mit.edu 37 21 47558804 47558804 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr21:47558804C>T ENST00000397748.1 - 11 1337 c.1294G>A c.(1294-1296)Gaa>Aaa p.E432K FTCD_ENST00000397746.3_Missense_Mutation_p.E432K|FTCD_ENST00000498355.2_5'UTR|FTCD_ENST00000397743.1_Intron|FTCD_ENST00000355384.2_Intron|FTCD_ENST00000359679.2_Missense_Mutation_p.E432K|FTCD_ENST00000291670.5_Missense_Mutation_p.E432K O95954 FTCD_HUMAN formimidoyltransferase cyclodeaminase 432 Cyclodeaminase/cyclohydrolase (By similarity). folic acid-containing compound metabolic process|histidine catabolic process centriole|cytosol|Golgi apparatus folic acid binding|formimidoyltetrahydrofolate cyclodeaminase activity|glutamate formimidoyltransferase activity p.E432K(1) endometrium(1)|large_intestine(2)|lung(9)|pancreas(1)|prostate(3)|skin(3) 19 Breast(49;0.214) Colorectal(79;0.235) L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Tetrahydrofolic acid(DB00116) CTGTCCTTTTCCTCAGGTGTG 0.642000 44 104 0 0 1 0 0 RNF219 79596 broad.mit.edu 37 13 79189974 79189974 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr13:79189974G>A ENST00000282003.6 - 6 1980 c.1922C>T c.(1921-1923)cCc>cTc p.P641L RNF219-AS1_ENST00000560584.2_RNA|RNF219-AS1_ENST00000560209.2_RNA|RNF219-AS1_ENST00000606429.1_RNA NM_024546.3 NP_078822.3 Q5W0B1 RN219_HUMAN ring finger protein 219 641 Ser-rich. zinc ion binding breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|liver(1)|lung(11)|prostate(1)|skin(1) 32 Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848) GBM - Glioblastoma multiforme(99;0.0414) GCAGCTTGGGGGTTTGATTTC 0.383000 87 117 0 0 1 0 0 COL6A6 131873 broad.mit.edu 37 3 130284200 130284200 + Nonsense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:130284200C>T ENST00000358511.6 + 3 1055 c.1024C>T c.(1024-1026)Cga>Tga p.R342* COL6A6_ENST00000453409.2_Nonsense_Mutation_p.R342* NM_001102608.1 NP_001096078.1 A6NMZ7 CO6A6_HUMAN collagen, type VI, alpha 6 342 Nonhelical region.|VWFA 2. axon guidance|cell adhesion collagen NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 134 GGTGACCCACCGAGATTCAGA 0.557000 85 188 0 0 1 0 0 KCNH7 90134 broad.mit.edu 37 2 163374243 163374243 + Missense_Mutation SNP C C T rs138611881 TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:163374243C>T ENST00000332142.5 - 4 988 c.889G>A c.(889-891)Gaa>Aaa p.E297K KCNH7_ENST00000477019.1_5'UTR|KCNH7_ENST00000328032.4_Missense_Mutation_p.E297K NM_033272.3 NP_150375.2 Q9NS40 KCNH7_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 7 297 regulation of transcription, DNA-dependent integral to membrane protein binding|signal transducer activity NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3) 108 Ibutilide(DB00308) AACATACCTTCGCTGGCATGT 0.348000 13 59 0 0 1 0 0 SYNE2 23224 broad.mit.edu 37 14 64586252 64586252 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr14:64586252C>T ENST00000357395.3 + 68 13247 c.2103C>T c.(2101-2103)tcC>tcT p.S701S SYNE2_ENST00000358025.3_Silent_p.S4316S|SYNE2_ENST00000344113.4_Silent_p.S4316S|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000394768.2_Silent_p.S701S|SYNE2_ENST00000553455.1_Silent_p.S35S|SYNE2_ENST00000554584.1_Silent_p.S4331S|SYNE2_ENST00000555002.1_Silent_p.S950S Q8WXH0 SYNE2_HUMAN spectrin repeat containing, nuclear envelope 2 4316 centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc actin binding|protein binding NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4) 224 all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681) AAGCGCTTTCCCTGAAACTGA 0.428000 47 59 0 0 1 0 0 SLC5A6 8884 broad.mit.edu 37 2 27427439 27427439 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:27427439G>A ENST00000310574.3 - 9 1368 c.895C>T c.(895-897)Ccc>Tcc p.P299S SLC5A6_ENST00000408041.1_Missense_Mutation_p.P299S NM_021095.2 NP_066918.2 Q9Y289 SC5A6_HUMAN solute carrier family 5 (sodium/multivitamin and iodide cotransporter), member 6 299 biotin metabolic process|pantothenate metabolic process integral to plasma membrane|membrane fraction sodium-dependent multivitamin transmembrane transporter activity endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|ovary(3)|prostate(1)|skin(1) 20 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Biotin(DB00121)|Lipoic Acid(DB00166) TGCTGGAAGGGGAACACTGCA 0.582000 10 100 0 0 1 0 0 ENTPD6 955 broad.mit.edu 37 20 25206189 25206189 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr20:25206189C>T ENST00000360031.2 + 15 1590 c.1408C>T c.(1408-1410)Cat>Tat p.H470Y ENTPD6_ENST00000485936.1_3'UTR|ENTPD6_ENST00000433259.2_3'UTR|ENTPD6_ENST00000354989.5_Missense_Mutation_p.H454Y|ENTPD6_ENST00000376652.4_Missense_Mutation_p.H471Y NM_001247.2 NP_001238.2 O75354 ENTP6_HUMAN ectonucleoside triphosphate diphosphohydrolase 6 (putative) 471 Golgi membrane|integral to membrane nucleoside-diphosphatase activity breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|prostate(1)|skin(1) 27 GGCCATTTTTCATTACATCGA 0.527000 87 170 0 0 1 0 0 SYPL2 284612 broad.mit.edu 37 1 110019590 110019590 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:110019590C>T ENST00000369872.3 + 4 663 c.447C>T c.(445-447)ttC>ttT p.F149F SYPL2_ENST00000401021.3_Silent_p.F149F NM_001040709.1 NP_001035799.1 Q5VXT5 SYPL2_HUMAN synaptophysin-like 2 149 MARVEL. integral to membrane|synaptic vesicle transporter activity breast(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 16 all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244) Colorectal(144;0.0129)|Lung(183;0.0436)|READ - Rectum adenocarcinoma(129;0.0698)|Epithelial(280;0.0808)|all cancers(265;0.0869)|LUSC - Lung squamous cell carcinoma(189;0.231) ACAAACGCTTCCCGCTGGTGG 0.522000 19 39 0 0 1 0 0 ZNF420 147923 broad.mit.edu 37 19 37618337 37618337 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:37618337C>T ENST00000337995.3 + 5 659 c.444C>T c.(442-444)ttC>ttT p.F148F ZNF420_ENST00000304239.7_Silent_p.F148F|ZNF585A_ENST00000588723.1_Intron NM_144689.3 NP_653290.2 Q8TAQ5 ZN420_HUMAN zinc finger protein 420 148 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(2)|large_intestine(9)|lung(10)|prostate(1)|skin(3) 27 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) GGAAAGCCTTCAGACGAGCCT 0.393000 31 73 0 0 1 0 0 ZNF518A 9849 broad.mit.edu 37 10 97917242 97917242 + RNA SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:97917242C>T ENST00000534948.1 + 0 2020 Q6AHZ1 Z518A_HUMAN zinc finger protein 518A regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2) 24 Colorectal(252;0.0815) Epithelial(162;4.23e-08)|all cancers(201;1.85e-06) GCCCCTGAATCAGAGTCAGAG 0.438000 21 49 0 0 1 0 0 SPAG6 9576 broad.mit.edu 37 10 22653932 22653932 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:22653932C>T ENST00000376603.2 + 3 642 c.500C>T c.(499-501)tCa>tTa p.S167L SPAG6_ENST00000313311.6_Missense_Mutation_p.S91L|SPAG6_ENST00000538630.1_Missense_Mutation_p.S66L|SPAG6_ENST00000376624.3_Missense_Mutation_p.S91L|SPAG6_ENST00000376601.1_Missense_Mutation_p.S91L|RP11-301N24.3_ENST00000422675.1_RNA O75602 SPAG6_HUMAN sperm associated antigen 6 91 cell projection organization|spermatid development axoneme|cilium|cytoplasm|flagellum|microtubule binding breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|prostate(1)|skin(2) 27 CTTGTTTATTCATTGGCAGAA 0.363000 22 55 0 0 1 0 0 SPI1 6688 broad.mit.edu 37 11 47399884 47399884 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:47399884C>T ENST00000378538.3 - 1 243 c.21G>A c.(19-21)atG>atA p.M7I SPI1_ENST00000533968.1_Missense_Mutation_p.M7I|SPI1_ENST00000533030.1_Missense_Mutation_p.M7I|SPI1_ENST00000227163.4_Missense_Mutation_p.M7I NM_001080547.1|NM_003120.2 NP_001074016.1|NP_003111.2 P17947 SPI1_HUMAN spleen focus forming virus (SFFV) proviral integration oncogene 7 negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of erythrocyte differentiation nucleus protein binding|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|large_intestine(2)|lung(4)|ovary(1) 8 Lung(87;0.0967) GAAACCCTTCCATTTTGCACG 0.682000 12 23 0 0 1 0 0 ZNF827 152485 broad.mit.edu 37 4 146744671 146744671 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:146744671G>A ENST00000508784.1 - 8 2513 c.2286C>T c.(2284-2286)ttC>ttT p.F762F ZNF827_ENST00000379448.4_Silent_p.F762F|ZNF827_ENST00000513320.1_Silent_p.F412F Q17R98 ZN827_HUMAN zinc finger protein 827 762 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 48 all_hematologic(180;0.151) CTTCTGAAAAGAAAGGGCTGG 0.443000 19 57 0 0 1 0 0 CFTR 1080 broad.mit.edu 37 7 117282567 117282567 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:117282567G>A ENST00000003084.6 + 23 3925 c.3793G>A c.(3793-3795)Gga>Aga p.G1265R AC000111.6_ENST00000456270.1_RNA|CFTR_ENST00000454343.1_Missense_Mutation_p.G1204R NM_000492.3 NP_000483.3 P13569 CFTR_HUMAN cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) 1265 ABC transporter 2. respiratory gaseous exchange apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9) 69 Lung NSC(10;0.00148)|all_lung(10;0.00171) STAD - Stomach adenocarcinoma(10;0.000534) Bumetanide(DB00887)|Glibenclamide(DB01016) GAACACTGAAGGAGAAATCCA 0.443000 Cystic Fibrosis 41 121 0 0 1 0 0 RTN3 10313 broad.mit.edu 37 11 63487012 63487012 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:63487012C>T ENST00000377819.5 + 3 1192 c.1038C>T c.(1036-1038)ccC>ccT p.P346P RTN3_ENST00000356000.3_Intron|RTN3_ENST00000339997.4_Silent_p.P327P|RTN3_ENST00000540798.1_Silent_p.P234P|RTN3_ENST00000341307.2_Intron|RTN3_ENST00000537981.1_Intron|RTN3_ENST00000354497.4_Intron NM_001265589.1 NP_001252518.1 O95197 RTN3_HUMAN reticulon 3 346 apoptosis|endoplasmic reticulum tubular network organization|interspecies interaction between organisms|response to stress|vesicle-mediated transport endoplasmic reticulum membrane|extracellular space|Golgi membrane|integral to membrane cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|urinary_tract(1) 20 ATCTGGTTCCCCAAGTGAAAC 0.393000 23 50 0 0 1 0 0 COL5A3 50509 broad.mit.edu 37 19 10071440 10071440 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:10071440C>T ENST00000264828.3 - 66 5063 c.4978G>A c.(4978-4980)Gaa>Aaa p.E1660K NM_015719.3 NP_056534.2 P25940 CO5A3_HUMAN collagen, type V, alpha 3 1660 Fibrillar collagen NC1. collagen fibril organization|skin development collagen type V collagen binding|extracellular matrix structural constituent NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 116 Epithelial(33;7.11e-05) CCCGTGGCTTCGTCCAGCCAG 0.592000 53 81 0 0 1 0 0 SAMD12 401474 broad.mit.edu 37 8 119593017 119593017 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:119593017G>A ENST00000409003.4 - 2 257 c.129C>T c.(127-129)ttC>ttT p.F43F SAMD12_ENST00000314727.4_Silent_p.F43F NM_001101676.1 NP_001095146.1 Q8N8I0 SAM12_HUMAN sterile alpha motif domain containing 12 43 endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(2) 9 all_cancers(13;3.91e-25)|Lung NSC(37;1.13e-07)|Ovarian(258;0.0249) STAD - Stomach adenocarcinoma(47;0.00391) GCACCTTCTGGAAATTTTTAT 0.438000 34 78 0 0 1 0 0 SH2D3C 10044 broad.mit.edu 37 9 130536649 130536649 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:130536649C>T ENST00000314830.8 - 2 248 c.135G>A c.(133-135)ttG>ttA p.L45L NM_170600.2 NP_733745.1 Q8N5H7 SH2D3_HUMAN SH2 domain containing 3C 45 JNK cascade|small GTPase mediated signal transduction cytoplasm|membrane guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 TGTCAGGCTCCAAATGGGACT 0.557000 6 107 0 0 1 0 0 KRT1 3848 broad.mit.edu 37 12 53073623 53073623 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:53073623G>A ENST00000252244.3 - 1 568 c.510C>T c.(508-510)gaC>gaT p.D170D NM_006121.3 NP_006112.3 P04264 K2C1_HUMAN keratin 1 170 Head. complement activation, lectin pathway|epidermis development|fibrinolysis|regulation of angiogenesis|response to oxidative stress plasma membrane protein binding|receptor activity|structural constituent of cytoskeleton|sugar binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(7)|skin(3) 39 GGATCTCAGGGTCAATCTCCA 0.483000 5 165 0 0 1 0 0 CEACAM4 1089 broad.mit.edu 37 19 42126976 42126976 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:42126976C>T ENST00000221954.2 - 4 677 c.567G>A c.(565-567)agG>agA p.R189R CEACAM4_ENST00000600925.1_Silent_p.R187R NM_001817.2 NP_001808.2 O75871 CEAM4_HUMAN carcinoembryonic antigen-related cell adhesion molecule 4 189 integral to plasma membrane|membrane fraction NS(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(3)|skin(3)|urinary_tract(1) 16 GCGGCTGCTCCCTGAGGTCAC 0.607000 5 72 0 0 1 0 0 ADAM29 11086 broad.mit.edu 37 4 175897465 175897465 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:175897465G>A ENST00000359240.3 + 5 1459 c.789G>A c.(787-789)agG>agA p.R263R ADAM29_ENST00000445694.1_Silent_p.R263R|ADAM29_ENST00000404450.4_Silent_p.R263R|ADAM29_ENST00000514159.1_Silent_p.R263R NM_001278125.1|NM_014269.4 NP_001265054.1|NP_055084.3 Q9UKF5 ADA29_HUMAN ADAM metallopeptidase domain 29 263 Peptidase M12B. proteolysis|spermatogenesis integral to plasma membrane metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2) 93 Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286) ATGATGTAAGGAAATCTGTGC 0.403000 57 141 0 0 1 0 0 TSIX 9383 broad.mit.edu 37 X 73045901 73045901 + RNA SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chrX:73045901C>T ENST00000604411.1 + 0 33862 XIST_ENST00000429829.1_lincRNA NR_003255.2 GCACAGTCACCCTTTCCATAA 0.522000 51 49 0 0 1 0 0 DCSTAMP 81501 broad.mit.edu 37 8 105361407 105361407 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:105361407C>T ENST00000297581.2 + 2 676 c.627C>T c.(625-627)tcC>tcT p.S209S DCSTAMP_ENST00000517991.1_Silent_p.S209S|DPYS_ENST00000521601.1_Intron NM_030788.3 NP_110415.1 Q9H295 TM7S4_HUMAN dendrocyte expressed seven transmembrane protein 209 osteoclast differentiation cell surface|integral to membrane|plasma membrane TGTTGTCCTCCCTGGGTCAGA 0.542000 21 159 0 0 1 0 0 FMO1 2326 broad.mit.edu 37 1 171249946 171249946 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:171249946G>A ENST00000354841.4 + 5 780 c.649G>A c.(649-651)Ggg>Agg p.G217R FMO1_ENST00000367750.3_Missense_Mutation_p.G217R|FMO1_ENST00000402921.2_Missense_Mutation_p.G154R|FMO1_ENST00000469112.1_3'UTR Q01740 FMO1_HUMAN flavin containing monooxygenase 1 217 NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process endoplasmic reticulum lumen|integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(2)|skin(2) 27 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) CACCACCGGAGGGGGATGGGT 0.522000 47 61 0 0 1 0 0 CYP2C9 1559 broad.mit.edu 37 10 96741088 96741088 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:96741088G>A ENST00000260682.6 + 7 1122 c.1110G>A c.(1108-1110)gtG>gtA p.V370V NM_000771.3 NP_000762.2 P11712 CP2C9_HUMAN cytochrome P450, family 2, subfamily C, polypeptide 9 370 exogenous drug catabolic process|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid metabolic process|urea metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome (S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|caffeine oxidase activity|drug binding|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 Colorectal(252;0.0902) all cancers(201;6.93e-05) Acenocoumarol(DB01418)|Alosetron(DB00969)|Amiodarone(DB01118)|Antihemophilic Factor(DB00025)|Aprepitant(DB00673)|Bosentan(DB00559)|Carprofen(DB00821)|Carvedilol(DB01136)|Celecoxib(DB00482)|Clomipramine(DB01242)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Desogestrel(DB00304)|Diclofenac(DB00586)|Esomeprazole(DB00736)|Etodolac(DB00749)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Glibenclamide(DB01016)|Glimepiride(DB00222)|Glipizide(DB01067)|Guanfacine(DB01018)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Imipramine(DB00458)|Irbesartan(DB01029)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Losartan(DB00678)|Lumiracoxib(DB01283)|Marinol(DB00470)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mephenytoin(DB00532)|Metronidazole(DB00916)|Miconazole(DB01110)|Midazolam(DB00683)|Montelukast(DB00471)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Oxymorphone(DB01192)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pravastatin(DB00175)|Quinidine(DB00908)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Sertraline(DB01104)|Sildenafil(DB00203)|Sulfamethoxazole(DB01015)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tenoxicam(DB00469)|Terfenadine(DB00342)|Tolbutamide(DB01124)|Torasemide(DB00214)|Troleandomycin(DB01361)|Valdecoxib(DB00580)|Valsartan(DB00177)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744) CCCATGCAGTGACCTGTGACA 0.483000 66 110 0 0 1 0 0 SLC6A11 6538 broad.mit.edu 37 3 10976883 10976883 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:10976883G>A ENST00000254488.2 + 13 1810 c.1744G>A c.(1744-1746)Gag>Aag p.E582K NM_014229.1 NP_055044.1 P48066 S6A11_HUMAN solute carrier family 6 (neurotransmitter transporter), member 11 582 neurotransmitter secretion integral to plasma membrane gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(13)|ovary(1)|skin(4) 35 OV - Ovarian serous cystadenocarcinoma(96;0.229) GACACTGCCCGAGGTGAGACC 0.647000 39 137 0 0 1 0 0 PXDNL 137902 broad.mit.edu 37 8 52322091 52322091 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:52322091C>T ENST00000356297.4 - 17 2193 c.2093G>A c.(2092-2094)cGc>cAc p.R698H PXDNL_ENST00000543296.1_Missense_Mutation_p.R698H NM_144651.4 NP_653252.3 A1KZ92 PXDNL_HUMAN peroxidasin homolog (Drosophila)-like 698 hydrogen peroxide catabolic process extracellular space heme binding|peroxidase activity NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 48 all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015) GCTGAGGGAGCGCGGGGACAC 0.612000 23 43 0 0 1 0 0 IGFN1 91156 broad.mit.edu 37 1 201184791 201184791 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:201184791G>A ENST00000335211.4 + 15 9250 c.9120G>A c.(9118-9120)agG>agA p.R3040R IGFN1_ENST00000295591.8_Silent_p.R200R|IGFN1_ENST00000451870.2_Intron NM_001164586.1 NP_001158058.1 immunoglobulin-like and fibronectin type III domain containing 1 autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 CTGCCTGGAGGAAGGACGGGG 0.642000 30 45 0 0 1 0 0 MYH7 4625 broad.mit.edu 37 14 23902319 23902319 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr14:23902319C>T ENST00000355349.3 - 4 481 c.319G>A c.(319-321)Gat>Aat p.D107N NM_000257.2 NP_000248.2 P12883 MYH7_HUMAN myosin, heavy chain 7, cardiac muscle, beta 107 Myosin head-like. D -> E (in dbSNP:rs2754166). adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 137 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00725) CCGTAGCGATCCTTGAGGTTG 0.572000 31 85 0 0 1 0 0 KIDINS220 57498 broad.mit.edu 37 2 8919183 8919183 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:8919183G>A ENST00000256707.3 - 19 2638 c.2457C>T c.(2455-2457)ctC>ctT p.L819L KIDINS220_ENST00000418530.1_Silent_p.L777L|KIDINS220_ENST00000427284.1_Silent_p.L819L|KIDINS220_ENST00000319688.5_Silent_p.L820L|KIDINS220_ENST00000473731.1_Silent_p.L819L NM_020738.2 NP_065789.1 Q9ULH0 KDIS_HUMAN kinase D-interacting substrate, 220kDa 819 KAP NTPase. activation of MAPKK activity|nerve growth factor receptor signaling pathway cytosol|integral to membrane NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 60 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) GCACACTATTGAGGTTCTGGT 0.418000 95 189 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179594547 179594547 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:179594547C>T ENST00000589042.1 - 63 18657 c.18433G>A c.(18433-18435)Gaa>Aaa p.E6145K TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.E5828K|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E4901K|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 5828 Ig-like 42. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GCTGTTATTTCATTCCCGTCT 0.428000 39 59 0 0 1 0 0 NEFH 4744 broad.mit.edu 37 22 29886248 29886248 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr22:29886248G>A ENST00000310624.6 + 4 2652 c.2619G>A c.(2617-2619)aaG>aaA p.K873K NM_021076.3 NP_066554.2 P12036 NFH_HUMAN neurofilament, heavy polypeptide 879 Tail. cell death|nervous system development neurofilament cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(3) 30 CAAAGCCCAAGGTGGAGGAGA 0.507000 18 33 0 0 1 0 0 OR2Z1 284383 broad.mit.edu 37 19 8841652 8841652 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:8841652G>A ENST00000324060.2 + 1 337 c.262G>A c.(262-264)Gga>Aga p.G88R NM_001004699.1 NP_001004699.1 Q8NG97 OR2Z1_HUMAN olfactory receptor, family 2, subfamily Z, member 1 88 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 CTTTCTGCGGGGAGAAGGTGC 0.542000 4 112 0 0 1 0 0 BICC1 80114 broad.mit.edu 37 10 60580162 60580162 + Nonsense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:60580162C>T ENST00000373886.3 + 20 2732 c.2728C>T c.(2728-2730)Cag>Tag p.Q910* NM_001080512.1 NP_001073981.1 Q9H694 BICC1_HUMAN bicaudal C homolog 1 (Drosophila) 910 SAM. multicellular organismal development RNA binding breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1) 44 TCTCACAGATCAGGATCTGAA 0.373000 9 110 0 0 1 0 0 EPB41L5 57669 broad.mit.edu 37 2 120799612 120799612 + Nonsense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:120799612C>T ENST00000263713.5 + 3 425 c.211C>T c.(211-213)Cag>Tag p.Q71* EPB41L5_ENST00000331393.4_Nonsense_Mutation_p.Q71*|EPB41L5_ENST00000452780.1_Nonsense_Mutation_p.Q71*|EPB41L5_ENST00000443124.1_Nonsense_Mutation_p.Q71*|EPB41L5_ENST00000443902.2_Nonsense_Mutation_p.Q71* NM_020909.3 NP_065960.2 Q9HCM4 E41L5_HUMAN erythrocyte membrane protein band 4.1 like 5 71 FERM. cytoplasm|cytoskeleton|extrinsic to membrane cytoskeletal protein binding breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(5)|lung(12)|ovary(1) 26 GTTGTTTGATCAGATTATGTA 0.353000 35 75 0 0 1 0 0 OR10K1 391109 broad.mit.edu 37 1 158435999 158435999 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:158435999C>T ENST00000289451.2 + 1 728 c.648C>T c.(646-648)gtC>gtT p.V216V NM_001004473.1 NP_001004473.1 Q8NGX5 O10K1_HUMAN olfactory receptor, family 10, subfamily K, member 1 216 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1) 27 all_hematologic(112;0.0378) TTATCCTAGTCTCCTACATCC 0.478000 46 165 0 0 1 0 0 C1orf106 55765 broad.mit.edu 37 1 200869295 200869295 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:200869295C>T ENST00000367342.4 + 4 699 c.499C>T c.(499-501)Cgc>Tgc p.R167C C1orf106_ENST00000413687.2_Missense_Mutation_p.R82C NM_018265.3 NP_060735.3 Q3KP66 CA106_HUMAN chromosome 1 open reading frame 106 167 endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(2) 21 CCCCAAGGTTCGCCGCAGGAT 0.617000 52 47 0 0 1 0 0 LILRP2 79166 broad.mit.edu 37 19 55220356 55220356 + RNA SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:55220356C>T ENST00000413439.1 + 0 523 CGGGGGAGGTCTGTGGACCCC 0.597000 8 9 0 0 1 0 0 CCDC178 374864 broad.mit.edu 37 18 30928886 30928886 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr18:30928886G>A ENST00000383096.3 - 8 607 c.425C>T c.(424-426)cCa>cTa p.P142L CCDC178_ENST00000406524.2_Missense_Mutation_p.P142L|CCDC178_ENST00000402325.1_Missense_Mutation_p.P142L|CCDC178_ENST00000300227.8_Missense_Mutation_p.P142L|CCDC178_ENST00000583930.1_Missense_Mutation_p.P142L|CCDC178_ENST00000403303.1_Missense_Mutation_p.P142L|CCDC178_ENST00000579916.1_Intron|CCDC178_ENST00000579947.1_Missense_Mutation_p.P142L coiled-coil domain containing 178 CTCTTTCACTGGTGTAGTTAC 0.338000 19 57 0 0 1 0 0 NLRP7 199713 broad.mit.edu 37 19 55451385 55451385 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:55451385C>T ENST00000446217.1 - 6 1288 c.886G>A c.(886-888)Gac>Aac p.D296N NLRP7_ENST00000448121.2_Missense_Mutation_p.D268N|NLRP7_ENST00000328092.5_Missense_Mutation_p.D268N|NLRP7_ENST00000340844.2_Missense_Mutation_p.D268N|NLRP7_ENST00000590030.1_Missense_Mutation_p.D268N|NLRP7_ENST00000588756.1_Missense_Mutation_p.D268N|NLRP7_ENST00000592784.1_Missense_Mutation_p.D268N Q8WX94 NALP7_HUMAN NLR family, pyrin domain containing 7 268 NACHT. ATP binding autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 73 GBM - Glioblastoma multiforme(193;0.0325) CCGCAGATGTCCTGGATCAGC 0.582000 58 84 0 0 1 0 0 PCLO 27445 broad.mit.edu 37 7 82544905 82544905 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:82544905G>A ENST00000423517.2 - 7 12734 c.12397C>T c.(12397-12399)Cgt>Tgt p.R4133C PCLO_ENST00000333891.8_Missense_Mutation_p.R4133C|PCLO_ENST00000437081.1_Missense_Mutation_p.R853C NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 4064 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 GTCCCTCTACGAAATTCCTGT 0.408000 4 141 0 0 1 0 0 VPS33B 26276 broad.mit.edu 37 15 91551104 91551104 + Missense_Mutation SNP A A C TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr15:91551104A>C ENST00000333371.3 - 7 847 c.494T>G c.(493-495)tTt>tGt p.F165C VPS33B_ENST00000535843.1_Missense_Mutation_p.F74C|VPS33B_ENST00000535906.1_Missense_Mutation_p.F138C NM_018668.3 NP_061138.3 Q9H267 VP33B_HUMAN vacuolar protein sorting 33 homolog B (yeast) 165 cellular membrane fusion|lysosome localization|melanosome localization|platelet alpha granule organization|protein transport|vesicle docking involved in exocytosis late endosome membrane|lysosomal membrane|perinuclear region of cytoplasm|platelet alpha granule protein binding central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|stomach(2) 16 Lung NSC(78;0.0987)|all_lung(78;0.175) ATTTACCAGAAAGTAATCCCT 0.483000 15 182 0 0 1 0 0 CDH19 28513 broad.mit.edu 37 18 64172225 64172225 + Missense_Mutation SNP A A G TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr18:64172225A>G ENST00000262150.2 - 12 2435 c.2143T>C c.(2143-2145)Ttt>Ctt p.F715L NM_021153.2 NP_066976.1 Q9H159 CAD19_HUMAN cadherin 19, type 2 715 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7) 61 Esophageal squamous(42;0.0132) AGGGAATCAAAAGGAGGGGCA 0.478000 6 117 0 0 1 0 0 OSBPL2 9885 broad.mit.edu 37 20 60864293 60864293 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr20:60864293C>T ENST00000313733.3 + 12 1358 c.1156C>T c.(1156-1158)Ctc>Ttc p.L386F OSBPL2_ENST00000358053.2_Missense_Mutation_p.L374F|OSBPL2_ENST00000439951.2_Intron NM_144498.1 NP_653081.1 Q9H1P3 OSBL2_HUMAN oxysterol binding protein-like 2 386 lipid transport lipid binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 17 Breast(26;7.76e-09) BRCA - Breast invasive adenocarcinoma(19;1.33e-06) CACTGTGAGCCTCAACGAGCT 0.587000 20 46 0 0 1 0 0 TTLL4 9654 broad.mit.edu 37 2 219602626 219602626 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:219602626C>T ENST00000392102.1 + 3 567 c.227C>T c.(226-228)cCc>cTc p.P76L TTLL4_ENST00000457313.1_Intron|TTLL4_ENST00000442769.1_Missense_Mutation_p.P76L|TTLL4_ENST00000258398.4_Missense_Mutation_p.P76L NM_014640.4 NP_055455.3 Q14679 TTLL4_HUMAN tubulin tyrosine ligase-like family, member 4 76 protein polyglutamylation cilium|microtubule basal body ATP binding|tubulin binding|tubulin-tyrosine ligase activity endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|skin(3)|upper_aerodigestive_tract(2) 39 Renal(207;0.0915) Epithelial(149;5.03e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0101) GGCGTCCCACCCCAGCCAGCA 0.567000 5 242 0 0 1 0 0 DCDC1 341019 broad.mit.edu 37 11 31113004 31113004 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:31113004G>A ENST00000597505.1 - 15 2172 c.2173C>T c.(2173-2175)Cct>Tct p.P725S DCDC1_ENST00000437348.1_5'UTR P59894 DCDC1_HUMAN doublecortin domain containing 1 0 intracellular signal transduction central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1) 31 Lung SC(675;0.225) ACTCTGATAGGATGACCAATA 0.388000 6 21 0 0 1 0 0 EPHA7 2045 broad.mit.edu 37 6 93967960 93967960 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:93967960C>T ENST00000369303.4 - 11 2151 c.1967G>A c.(1966-1968)gGg>gAg p.G656E NM_004440.3 NP_004431.1 Q15375 EPHA7_HUMAN EPH receptor A7 656 Protein kinase. integral to plasma membrane ATP binding|ephrin receptor activity NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1) 112 all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142) BRCA - Breast invasive adenocarcinoma(108;0.0847) ATCTCTTTTCCCTGGAAGTTT 0.383000 116 75 0 0 1 0 0 TNN 63923 broad.mit.edu 37 1 175097836 175097836 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:175097836C>T ENST00000239462.4 + 15 3397 c.3284C>T c.(3283-3285)cCc>cTc p.P1095L NM_022093.1 NP_071376.1 Q9UQP3 TENN_HUMAN tenascin N 1095 Fibrinogen C-terminal. cell growth|cell migration|signal transduction extracellular space|proteinaceous extracellular matrix NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 156 Breast(1374;0.000962) KIRC - Kidney renal clear cell carcinoma(1967;0.00198) GCCAGCCGGCCCCTGCAGGTG 0.602000 73 78 0 0 1 0 0 DCAF4L2 138009 broad.mit.edu 37 8 88885833 88885833 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:88885833G>A ENST00000319675.3 - 1 463 c.367C>T c.(367-369)Cct>Tct p.P123S NM_152418.3 NP_689631.1 Q8NA75 DC4L2_HUMAN DDB1 and CUL4 associated factor 4-like 2 123 breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 83 TTCCGATTAGGGACGTAGAGG 0.552000 68 116 0 0 1 0 0 ZNF534 147658 broad.mit.edu 37 19 52941764 52941764 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:52941764G>A ENST00000332323.6 + 4 1151 c.1090G>A c.(1090-1092)Gag>Aag p.E364K ZNF534_ENST00000301085.4_Intron|ZNF534_ENST00000433050.1_Missense_Mutation_p.E351K|ZNF534_ENST00000432303.2_Intron NM_001143939.1 NP_001137411.1 Q76KX8 ZN534_HUMAN zinc finger protein 534 364 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|lung(1)|prostate(1)|skin(1) 4 TCATACTGGAGAGAGACCATA 0.418000 4 13 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179428324 179428324 + Missense_Mutation SNP T T G TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:179428324T>G ENST00000589042.1 - 326 82759 c.82535A>C c.(82534-82536)gAa>gCa p.E27512A TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E18572A|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E25871A|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E24944A|TTN_ENST00000460472.2_Missense_Mutation_p.E18447A|TTN_ENST00000342175.6_Missense_Mutation_p.E18639A|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 25871 Fibronectin type-III 100. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TCTAACGCCTTCCTTATCTCG 0.463000 64 139 0 0 1 0 0 MYH4 4622 broad.mit.edu 37 17 10370060 10370060 + Translation_Start_Site SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:10370060C>T ENST00000255381.2 - 3 113 c.3G>A c.(1-3)atG>atA p.M1I CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA NM_017533.2 NP_060003.2 Q9Y623 MYH4_HUMAN myosin, heavy chain 4, skeletal muscle 1 Myosin head-like. muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 149 AGTCAGAACTCATGGCTGCAG 0.468000 63 66 0 0 1 0 0 KIAA1549L 25758 broad.mit.edu 37 11 33682433 33682433 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:33682433C>T ENST00000321505.4 + 19 5321 c.5141C>T c.(5140-5142)gCc>gTc p.A1714V KIAA1549L_ENST00000389726.3_Missense_Mutation_p.A1720V KIAA1549-like GCAGTGTTCGCCATCCCAGCT 0.552000 9 40 0 0 1 0 0 ST6GAL2 84620 broad.mit.edu 37 2 107460096 107460096 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:107460096G>A ENST00000409382.3 - 2 948 c.338C>T c.(337-339)tCa>tTa p.S113L ST6GAL2_ENST00000409087.3_Missense_Mutation_p.S113L|ST6GAL2_ENST00000361686.4_Missense_Mutation_p.S113L NM_001142351.1 NP_001135823.1 Q96JF0 SIAT2_HUMAN ST6 beta-galactosamide alpha-2,6-sialyltranferase 2 113 growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation Golgi cisterna membrane|integral to Golgi membrane beta-galactoside alpha-2,6-sialyltransferase activity autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 65 CACCTGGGATGAAAAAAACTC 0.562000 71 153 0 0 1 0 0 GABRB1 2560 broad.mit.edu 37 4 47408898 47408898 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:47408898C>T ENST00000295454.3 + 8 1327 c.1035C>T c.(1033-1035)gaC>gaT p.D345D GABRB1_ENST00000538619.1_Silent_p.D275D NM_000812.3 NP_000803.2 P18505 GBRB1_HUMAN gamma-aminobutyric acid (GABA) A receptor, beta 1 345 synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683) GCAAACAAGACCAGAGTGCCA 0.373000 4 110 0 0 1 0 0 SHANK2 22941 broad.mit.edu 37 11 70336429 70336429 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:70336429G>A ENST00000338508.4 - 30 2505 c.2506C>T c.(2506-2508)Ccg>Tcg p.P836S SHANK2_ENST00000423696.2_Missense_Mutation_p.P456S|SHANK2_ENST00000409161.1_Missense_Mutation_p.P239S|SHANK2_ENST00000449116.2_Missense_Mutation_p.P237S|SHANK2_ENST00000449833.2_Missense_Mutation_p.P240S|SHANK2_ENST00000357171.3_Missense_Mutation_p.P247S|SHANK2_ENST00000409530.1_Missense_Mutation_p.P246S Q9UPX8 SHAN2_HUMAN SH3 and multiple ankyrin repeat domains 2 456 intracellular signal transduction cell junction|cytoplasm|postsynaptic density|postsynaptic membrane GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 62 LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071) CCCAGAAACGGGGCTTTTGGG 0.567000 45 104 0 0 1 0 0 PLEKHS1 79949 broad.mit.edu 37 10 115527194 115527194 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:115527194C>T ENST00000361048.1 + 5 642 c.315C>T c.(313-315)tcC>tcT p.S105S PLEKHS1_ENST00000369312.4_Silent_p.S17S|PLEKHS1_ENST00000369310.3_Silent_p.S99S NM_024889.4 NP_079165.3 pleckstrin homology domain containing, family S member 1 AGGTCATGTCCATCAGAACCA 0.403000 18 34 0 0 1 0 0 PSG4 5672 broad.mit.edu 37 19 43698565 43698565 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:43698565C>T ENST00000405312.3 - 5 1407 c.1170G>A c.(1168-1170)ggG>ggA p.G390G PSG4_ENST00000244295.9_Silent_p.G297G|PSG4_ENST00000433626.2_Silent_p.G297G NM_002780.3 NP_002771.2 Q00888 PSG4_HUMAN pregnancy specific beta-1-glycoprotein 4 390 Ig-like C2-type 3. defense response|female pregnancy extracellular region central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 24 Prostate(69;0.00682) AAGCATAGAGCCCACTATGCT 0.458000 147 290 0 0 1 0 0 SRCAP 10847 broad.mit.edu 37 16 30735279 30735279 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr16:30735279G>A ENST00000262518.4 + 25 4919 c.4534G>A c.(4534-4536)Gct>Act p.A1512T SRCAP_ENST00000344771.4_Missense_Mutation_p.A1354T|SRCAP_ENST00000395059.2_Missense_Mutation_p.A1450T NM_006662.2 NP_006653.2 Q6ZRS2 SRCAP_HUMAN Snf2-related CREBBP activator protein 1512 Pro-rich. interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent Golgi apparatus|nucleus|protein complex ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5) 136 Colorectal(24;0.198) TTTGGCCACAGCTCCATCCCT 0.582000 31 53 0 0 1 0 0 MYO16 23026 broad.mit.edu 37 13 109661375 109661375 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr13:109661375G>A ENST00000356711.2 + 22 2633 c.2507G>A c.(2506-2508)gGa>gAa p.G836E MYO16_ENST00000251041.5_Missense_Mutation_p.G836E|MYO16_ENST00000357550.2_Missense_Mutation_p.G836E|MYO16_ENST00000457511.2_Missense_Mutation_p.G348E NM_015011.1 NP_055826.1 Q9Y6X6 MYO16_HUMAN myosin XVI 836 cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane actin filament binding|ATP binding|motor activity NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 121 all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104) BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201) AACCAGAATGGAGTTTTGGAC 0.353000 23 43 0 0 1 0 0 LOC653786 653786 broad.mit.edu 37 16 22563733 22563733 + RNA SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr16:22563733C>T ENST00000550753.1 + 0 1388 NR_003676.2 CAAGCAGCTTCCAAGATGGCC 0.438000 34 198 0 0 1 0 0 TTC25 83538 broad.mit.edu 37 17 40095007 40095007 + RNA SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:40095007C>T ENST00000591658.1 + 0 891 Q96NG3 TTC25_HUMAN tetratricopeptide repeat domain 25 cytoplasm protein binding endometrium(2)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1) 12 all_cancers(22;8.16e-06)|Breast(137;0.000143)|all_epithelial(22;0.000236) CCATTACATCCTCAAGAGCCT 0.577000 45 96 0 0 1 0 0 HLA-DQA1 3117 broad.mit.edu 37 6 32609750 32609750 + Splice_Site SNP G G C TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:32609750G>C ENST00000343139.5 + 3 435 c.331_splice c.e3-1 p.E111_splice HLA-DQA1_ENST00000395363.1_Splice_Site_p.E111_splice|HLA-DQA1_ENST00000374949.2_Splice_Site_p.E111_splice NM_002122.3 NP_002113.2 P01909 DQA1_HUMAN major histocompatibility complex, class II, DQ alpha 1 110 Alpha-1. antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway endoplasmic reticulum membrane|endosome membrane|Golgi apparatus|integral to plasma membrane|lysosomal membrane|MHC class II protein complex MHC class II receptor activity NS(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1) 6 TCACCACAGAGGTTCCTGAGG 0.512000 14 47 0 0 1 0 0 KCNMB1 3779 broad.mit.edu 37 5 169805857 169805857 + Missense_Mutation SNP C C T rs148835131 byFrequency TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:169805857C>T ENST00000274629.4 - 4 869 c.427G>A c.(427-429)Gaa>Aaa p.E143K KCNIP1_ENST00000377360.4_Intron|KCNIP1_ENST00000518527.1_Intron NM_004137.3 NP_004128.1 Q16558 KCMB1_HUMAN potassium large conductance calcium-activated channel, subfamily M, beta member 1 143 platelet activation|synaptic transmission calcium-activated potassium channel activity|potassium channel regulator activity endometrium(1)|large_intestine(1)|lung(7)|ovary(2) 11 Renal(175;0.000159)|Lung NSC(126;0.0165)|all_lung(126;0.026) Medulloblastoma(196;0.0109)|all_neural(177;0.0146) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.175) ACGCTGGTTTCGTTCCCCCGA 0.617000 23 49 0 0 1 0 0 PAPPA 5069 broad.mit.edu 37 9 119093530 119093530 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:119093530G>A ENST00000328252.3 + 11 3524 c.3155G>A c.(3154-3156)cGa>cAa p.R1052Q PAPPA_ENST00000534838.1_Missense_Mutation_p.R90Q NM_002581.3 NP_002572.2 Q13219 PAPP1_HUMAN pregnancy-associated plasma protein A, pappalysin 1 1052 cell differentiation|female pregnancy cytoplasm|extracellular region|membrane metalloendopeptidase activity|zinc ion binding p.R1052Q(1) NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1) 98 CAGGTGTGTCGAACCAAGGTG 0.398000 28 37 0 0 1 0 0 ZNF385D 79750 broad.mit.edu 37 3 21467063 21467063 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:21467063C>T ENST00000281523.2 - 6 1291 c.773G>A c.(772-774)gGa>gAa p.G258E NM_024697.2 NP_078973.1 Q9H6B1 Z385D_HUMAN zinc finger protein 385D 258 nucleus nucleic acid binding|zinc ion binding p.G258E(1) NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4) 46 GCCTGTGTTTCCTTTATTAAC 0.438000 37 89 0 0 1 0 0 SCUBE1 80274 broad.mit.edu 37 22 43604200 43604200 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr22:43604200G>A ENST00000360835.3 - 20 2738 c.2612C>T c.(2611-2613)aCc>aTc p.T871I NM_173050.3 NP_766638.2 Q8IWY4 SCUB1_HUMAN signal peptide, CUB domain, EGF-like 1 871 CUB. adult heart development|blood coagulation|endothelial cell differentiation|inflammatory response|post-embryonic development|protein homooligomerization external side of plasma membrane|extracellular space|extrinsic to plasma membrane calcium ion binding|identical protein binding|protein heterodimerization activity autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(4)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 all_neural(38;0.0414)|Ovarian(80;0.07) GGTCTGGCAGGTCTCATAGGT 0.602000 56 114 0 0 1 0 0 DYNC1I1 1780 broad.mit.edu 37 7 95625376 95625376 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:95625376C>T ENST00000324972.6 + 10 1204 c.1011C>T c.(1009-1011)ttC>ttT p.F337F DYNC1I1_ENST00000537881.1_Silent_p.F300F|DYNC1I1_ENST00000457059.1_Silent_p.F320F|DYNC1I1_ENST00000447467.2_Silent_p.F320F|DYNC1I1_ENST00000359388.4_Silent_p.F300F|DYNC1I1_ENST00000437599.1_Silent_p.F317F NM_004411.4 NP_004402.1 O14576 DC1I1_HUMAN dynein, cytoplasmic 1, intermediate chain 1 337 vesicle transport along microtubule condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|perinuclear region of cytoplasm|spindle pole|vesicle microtubule binding|microtubule motor activity NS(2)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(27)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 54 all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191) STAD - Stomach adenocarcinoma(171;0.0957) AATACGTCTTCCACTGTCAGG 0.428000 43 192 0 0 1 0 0 SLC9A3 6550 broad.mit.edu 37 5 482722 482722 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:482722C>T ENST00000264938.3 - 7 1306 c.1297G>A c.(1297-1299)Gag>Aag p.E433K SLC9A3_ENST00000514375.1_Missense_Mutation_p.E433K NM_004174.2 NP_004165.2 P48764 SL9A3_HUMAN solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3 433 cell surface|integral to membrane sodium:hydrogen antiporter activity NS(2)|biliary_tract(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(16)|prostate(3)|skin(2)|urinary_tract(1) 37 Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863) AGGTTCTTCTCCTTGACCTTG 0.642000 38 90 0 0 1 0 0 NCAM2 4685 broad.mit.edu 37 21 22652919 22652919 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr21:22652919C>T ENST00000400546.1 + 2 326 c.77C>T c.(76-78)tCa>tTa p.S26L NCAM2_ENST00000486367.1_3'UTR|NCAM2_ENST00000535285.1_Missense_Mutation_p.S51L|NCAM2_ENST00000284894.7_Intron NM_004540.3 NP_004531.2 O15394 NCAM2_HUMAN neural cell adhesion molecule 2 26 Ig-like C2-type 1. neuron cell-cell adhesion integral to membrane|plasma membrane breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 108 Lung NSC(9;0.195) all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174) GTGACAATTTCACTTAGCAAA 0.323000 9 23 0 0 1 0 0 CYP4Z1 199974 broad.mit.edu 37 1 47534369 47534369 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:47534369G>A ENST00000334194.3 + 2 256 c.253G>A c.(253-255)Gga>Aga p.G85R NM_178134.2 NP_835235.1 Q86W10 CP4Z1_HUMAN cytochrome P450, family 4, subfamily Z, polypeptide 1 85 endoplasmic reticulum membrane|integral to membrane|microsome aromatase activity|electron carrier activity|heme binding p.G85R(1) cervix(1)|large_intestine(4)|lung(4)|skin(1)|stomach(1) 11 CTTGTGGGTTGGACCCTTTAC 0.443000 61 151 0 0 1 0 0 TTC7A 57217 broad.mit.edu 37 2 47233819 47233819 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:47233819C>T ENST00000319190.5 + 10 1611 c.1243C>T c.(1243-1245)Cac>Tac p.H415Y TTC7A_ENST00000409245.1_Missense_Mutation_p.H381Y|TTC7A_ENST00000394850.2_Missense_Mutation_p.H415Y|TTC7A_ENST00000263737.6_Missense_Mutation_p.H61Y|TTC7A_ENST00000461601.1_3'UTR NM_020458.2 NP_065191.2 Q9ULT0 TTC7A_HUMAN tetratricopeptide repeat domain 7A 415 binding breast(4)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 25 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18) Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114) TGGAGAATTTCACCTTTGGTA 0.617000 30 69 0 0 1 0 0 DOCK11 139818 broad.mit.edu 37 X 117817154 117817154 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chrX:117817154G>A ENST00000276204.6 + 52 6150 c.6076G>A c.(6076-6078)Gaa>Aaa p.E2026K DOCK11_ENST00000276202.7_Missense_Mutation_p.E2026K Q5JSL3 DOC11_HUMAN dedicator of cytokinesis 11 2026 DHR-2. blood coagulation cytosol GTP binding breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1) 84 CATGGTAAAAGAATTATCTGA 0.378000 75 24 0 0 1 0 0 STON1-GTF2A1L 286749 broad.mit.edu 37 2 48906516 48906516 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:48906516G>A ENST00000394754.1 + 11 3598 c.3484G>A c.(3484-3486)Ggt>Agt p.G1162S GTF2A1L_ENST00000430487.2_Missense_Mutation_p.G424S|STON1-GTF2A1L_ENST00000309827.2_Missense_Mutation_p.G1162S|GTF2A1L_ENST00000403751.3_Missense_Mutation_p.G458S|STON1-GTF2A1L_ENST00000405008.1_Missense_Mutation_p.G1162S|STON1-GTF2A1L_ENST00000402114.2_Intron|STON1-GTF2A1L_ENST00000394751.3_Missense_Mutation_p.G1115S NM_172311.2 NP_758515.1 B7ZL16 B7ZL16_HUMAN 1115 endocytosis|intracellular protein transport|transcription initiation from RNA polymerase II promoter clathrin adaptor complex|transcription factor TFIIA complex NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(22)|liver(2)|lung(49)|ovary(3)|pancreas(1)|prostate(4)|skin(4) 91 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) TTTGAAAGATGGTGTTATGTG 0.358000 29 73 0 0 1 0 0 GRID1 2894 broad.mit.edu 37 10 87482774 87482774 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:87482774C>T ENST00000327946.7 - 12 2068 c.1983G>A c.(1981-1983)atG>atA p.M661I GRID1_ENST00000536331.1_Missense_Mutation_p.M232I NM_017551.2 NP_060021.1 Q9ULK0 GRID1_HUMAN glutamate receptor, ionotropic, delta 1 661 cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5) 106 L-Glutamic Acid(DB00142) TGGGGTTGTCCATCCTGGACA 0.537000 Multiple Myeloma(13;0.14) 15 31 0 0 1 0 0 C15orf39 56905 broad.mit.edu 37 15 75498549 75498549 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr15:75498549G>A ENST00000360639.2 + 2 480 c.160G>A c.(160-162)Ggt>Agt p.G54S C15orf39_ENST00000394987.4_Missense_Mutation_p.G54S|C15orf39_ENST00000567617.1_Missense_Mutation_p.G54S Q6ZRI6 CO039_HUMAN chromosome 15 open reading frame 39 54 autonomic_ganglia(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1) 16 CCCCATGGCAGGTACTCCTAA 0.597000 23 53 0 0 1 0 0 MYBPC1 4604 broad.mit.edu 37 12 102056318 102056318 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:102056318C>T ENST00000549145.1 + 20 2279 c.2179C>T c.(2179-2181)Cct>Tct p.P727S MYBPC1_ENST00000547405.1_Missense_Mutation_p.P688S|MYBPC1_ENST00000452455.2_Missense_Mutation_p.P714S|MYBPC1_ENST00000541119.1_Missense_Mutation_p.P702S|MYBPC1_ENST00000551300.1_Missense_Mutation_p.P615S|MYBPC1_ENST00000361466.2_Missense_Mutation_p.P739S|MYBPC1_ENST00000550501.1_Intron|MYBPC1_ENST00000547509.1_Missense_Mutation_p.P700S|MYBPC1_ENST00000361685.2_Missense_Mutation_p.P739S|MYBPC1_ENST00000550270.1_Missense_Mutation_p.P714S|MYBPC1_ENST00000536007.1_Missense_Mutation_p.P695S|MYBPC1_ENST00000392934.3_Missense_Mutation_p.P701S|MYBPC1_ENST00000545503.2_Missense_Mutation_p.P714S|MYBPC1_ENST00000360610.2_Missense_Mutation_p.P714S|MYBPC1_ENST00000553190.1_Missense_Mutation_p.P714S|MYBPC1_ENST00000441232.1_Missense_Mutation_p.P714S Q00872 MYPC1_HUMAN myosin binding protein C, slow type 714 Fibronectin type-III 2. cell adhesion|muscle filament sliding cytosol|myofibril|myosin filament actin binding|structural constituent of muscle|titin binding breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2) 57 GCCTTTTGTTCCTTTGGGTAA 0.498000 35 65 0 0 1 0 0 IQGAP2 10788 broad.mit.edu 37 5 75954412 75954412 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:75954412G>A ENST00000274364.6 + 21 2746 c.2449G>A c.(2449-2451)Gcc>Acc p.A817T IQGAP2_ENST00000502745.1_Missense_Mutation_p.A313T|IQGAP2_ENST00000396234.3_Missense_Mutation_p.A313T|IQGAP2_ENST00000379730.3_Missense_Mutation_p.A319T NM_006633.2 NP_006624.2 Q13576 IQGA2_HUMAN IQ motif containing GTPase activating protein 2 817 small GTPase mediated signal transduction actin cytoskeleton actin binding|calmodulin binding|GTPase inhibitor activity|Ras GTPase activator activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 68 all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149) all cancers(79;1.38e-36) CAAGATCAGGGCCAATCAACA 0.458000 9 111 0 0 1 0 0 PCDH20 64881 broad.mit.edu 37 13 61985899 61985899 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr13:61985899G>A ENST00000409186.1 - 5 4438 c.2333C>T c.(2332-2334)gCt>gTt p.A778V PCDH20_ENST00000409204.4_Missense_Mutation_p.A778V Q8N6Y1 PCD20_HUMAN protocadherin 20 751 Cadherin 6. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 58 Breast(118;0.195)|Prostate(109;0.229) GBM - Glioblastoma multiforme(99;0.000118) AGCTATGACAGCATTCATGCC 0.473000 34 30 0 0 1 0 0 OR10K1 391109 broad.mit.edu 37 1 158436086 158436086 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:158436086C>T ENST00000289451.2 + 1 815 c.735C>T c.(733-735)ctC>ctT p.L245L NM_001004473.1 NP_001004473.1 Q8NGX5 O10K1_HUMAN olfactory receptor, family 10, subfamily K, member 1 245 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1) 27 all_hematologic(112;0.0378) CCTCCCATCTCATTGTGGTAA 0.438000 42 108 0 0 1 0 0 ZNF662 389114 broad.mit.edu 37 3 42956100 42956100 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:42956100C>T ENST00000541208.1 + 5 904 c.535C>T c.(535-537)Ctt>Ttt p.L179F KRBOX1_ENST00000426937.1_Intron|ZNF662_ENST00000328199.6_Missense_Mutation_p.L205F|ZNF662_ENST00000440367.2_Missense_Mutation_p.L179F|ZNF662_ENST00000422021.1_Intron Q6ZS27 ZN662_HUMAN zinc finger protein 662 179 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(1)|large_intestine(6)|lung(5)|upper_aerodigestive_tract(1) 15 KIRC - Kidney renal clear cell carcinoma(284;0.217) CAATAACCTCCTTGGTATACA 0.348000 27 59 0 0 1 0 0 SIPA1L2 57568 broad.mit.edu 37 1 232650626 232650626 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:232650626G>A ENST00000366630.1 - 2 818 c.460C>T c.(460-462)Cac>Tac p.H154Y SIPA1L2_ENST00000262861.4_Missense_Mutation_p.H154Y Q9P2F8 SI1L2_HUMAN signal-induced proliferation-associated 1 like 2 154 regulation of small GTPase mediated signal transduction intracellular GTPase activator activity NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 103 all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186) CTTATGGGGTGAAGTCCTCTT 0.502000 57 173 0 0 1 0 0 TPGS1 91978 broad.mit.edu 37 19 519020 519020 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:519020C>T ENST00000359315.5 + 2 678 c.470C>T c.(469-471)cCc>cTc p.P157L NM_033513.2 NP_277048.2 Q6ZTW0 TPGS1_HUMAN tubulin polyglutamylase complex subunit 1 157 multicellular organismal development axon|centrosome|cilium axoneme|dendrite|flagellar axoneme|microtubule|microtubule basal body GGCCAAGCCCCCGAGGAGGTG 0.726000 6 11 0 0 1 0 0 SLC22A6 9356 broad.mit.edu 37 11 62748817 62748817 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:62748817C>T ENST00000377871.3 - 5 1102 c.836G>A c.(835-837)gGg>gAg p.G279E SLC22A6_ENST00000421062.2_Missense_Mutation_p.G279E|SLC22A6_ENST00000537349.1_5'UTR|SLC22A6_ENST00000360421.4_Missense_Mutation_p.G279E|SLC22A6_ENST00000458333.2_Missense_Mutation_p.G279E NM_004790.4|NM_153278.2 NP_004781.2|NP_695010.1 Q4U2R8 S22A6_HUMAN solute carrier family 22 (organic anion transporter), member 6 279 alpha-ketoglutarate transport basolateral plasma membrane|integral to plasma membrane|membrane fraction inorganic anion exchanger activity|protein binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(18)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 36 GTCCAGCCTCCCGGAGGAGGA 0.637000 5 11 0 0 1 0 0 MYO18B 84700 broad.mit.edu 37 22 26181414 26181414 + Nonsense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr22:26181414C>T ENST00000335473.7 + 11 2582 c.2332C>T c.(2332-2334)Cag>Tag p.Q778* MYO18B_ENST00000536101.1_Nonsense_Mutation_p.Q778*|MYO18B_ENST00000407587.2_Nonsense_Mutation_p.Q778* NM_032608.5 NP_115997.5 Q8IUG5 MY18B_HUMAN myosin XVIIIB 778 Myosin head-like. nucleus|sarcomere|unconventional myosin complex actin binding|ATP binding|motor activity NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 146 GAACCTGCACCAGATGGCAGA 0.617000 9 18 0 0 1 0 0 SNX12 29934 broad.mit.edu 37 X 70280920 70280920 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chrX:70280920G>A ENST00000374274.3 - 4 551 c.435C>T c.(433-435)ttC>ttT p.F145F SNX12_ENST00000276105.3_Silent_p.F141F|SNX12_ENST00000465030.1_5'UTR NM_001256185.1|NM_001256188.1|NM_013346.3 NP_001243114.1|NP_001243117.1|NP_037478.2 Q9UMY4 SNX12_HUMAN sorting nexin 12 145 PX. cell communication|protein transport membrane phosphatidylinositol binding|protein binding endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1) 8 Renal(35;0.156) CCTCTTGCAGGAACATGTGTA 0.498000 11 6 0 0 1 0 0 SLC8A3 6547 broad.mit.edu 37 14 70634728 70634728 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr14:70634728G>A ENST00000381269.2 - 2 1165 c.412C>T c.(412-414)Ctt>Ttt p.L138F SLC8A3_ENST00000357887.3_Missense_Mutation_p.L138F|SLC8A3_ENST00000356921.2_Missense_Mutation_p.L138F|SLC8A3_ENST00000528359.1_Missense_Mutation_p.L138F|SLC8A3_ENST00000534137.1_Missense_Mutation_p.L138F NM_058240.2|NM_183002.1 NP_489479.1|NP_892114.1 P57103 NAC3_HUMAN solute carrier family 8 (sodium/calcium exchanger), member 3 138 cell communication|platelet activation integral to membrane|plasma membrane calcium:sodium antiporter activity|calmodulin binding NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6) 54 BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555) AGGGCCATAAGGGTCAGGTTG 0.488000 4 88 0 0 1 0 0 WDR4 10785 broad.mit.edu 37 21 44282486 44282486 + Missense_Mutation SNP G G C TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr21:44282486G>C ENST00000398208.2 - 5 531 c.472C>G c.(472-474)Cgc>Ggc p.R158G WDR4_ENST00000492742.1_5'UTR|WDR4_ENST00000330317.2_Missense_Mutation_p.R158G NM_001260474.1|NM_001260475.1|NM_001260476.1|NM_018669.5 NP_001247403.1|NP_001247404.1|NP_001247405.1|NP_061139.2 P57081 WDR4_HUMAN WD repeat domain 4 158 tRNA modification cytoplasm|nucleoplasm protein binding haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|ovary(2) 11 Colorectal(79;0.0165)|Lung(125;0.0484)|STAD - Stomach adenocarcinoma(101;0.0624)|COAD - Colon adenocarcinoma(84;0.128)|LUSC - Lung squamous cell carcinoma(216;0.244) AGGATGAAGCGGTCATCAGGA 0.587000 6 21 0 0 1 0 0 TM2D1 83941 broad.mit.edu 37 1 62190796 62190796 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:62190796G>A ENST00000371180.2 - 1 299 c.183C>T c.(181-183)tcC>tcT p.S61S TM2D1_ENST00000294613.5_5'UTR|TM2D1_ENST00000606498.1_5'UTR|TM2D1_ENST00000371177.2_5'UTR NM_032027.2 NP_114416.1 Q9BX74 TM2D1_HUMAN TM2 domain containing 1 0 apoptosis large_intestine(2)|lung(3)|ovary(1) 6 CCGCCATCTTGGAGACCGACA 0.637000 31 71 0 0 1 0 0 TRAV3 28690 broad.mit.edu 37 14 22192074 22192074 + RNA SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr14:22192074C>T ENST00000390425.2 + 0 115 GGCCATATCTCCAGCAGAGGT 0.612000 41 62 0 0 1 0 0 ZNF563 147837 broad.mit.edu 37 19 12430169 12430169 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:12430169G>A ENST00000293725.5 - 4 875 c.670C>T c.(670-672)Ccg>Tcg p.P224S ZNF563_ENST00000595977.1_Intron NM_145276.2 NP_660319.1 Q8TA94 ZN563_HUMAN zinc finger protein 563 224 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 CATTCATACGGTTTCTCTCCA 0.398000 75 216 0 0 1 0 0 ZNF606 80095 broad.mit.edu 37 19 58490437 58490437 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:58490437C>T ENST00000341164.4 - 7 2231 c.1611G>A c.(1609-1611)gaG>gaA p.E537E ZNF606_ENST00000536132.1_Silent_p.E447E NM_025027.3 NP_079303.2 Q8WXB4 ZN606_HUMAN zinc finger protein 606 537 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168) TAAAGGGTTTCTCTCCAGTAT 0.388000 7 84 0 0 1 0 0 CELA3B 23436 broad.mit.edu 37 1 22310815 22310815 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:22310815C>T ENST00000337107.6 + 6 652 c.633C>T c.(631-633)tcC>tcT p.S211S CELA3B_ENST00000473526.1_3'UTR NM_007352.2 NP_031378.1 P08861 CEL3B_HUMAN chymotrypsin-like elastase family, member 3B 211 Peptidase S1. cholesterol metabolic process|proteolysis extracellular region serine-type endopeptidase activity breast(2)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1) 8 ACATCCGCTCCGGCTGCAATG 0.607000 38 80 0 0 1 0 0 SLC26A2 1836 broad.mit.edu 37 5 149360653 149360653 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:149360653G>A ENST00000286298.4 + 3 1765 c.1497G>A c.(1495-1497)agG>agA p.R499R NM_000112.3 NP_000103.2 P50443 S26A2_HUMAN solute carrier family 26 (anion exchanger), member 2 499 integral to plasma membrane|membrane fraction secondary active sulfate transmembrane transporter activity NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(1)|prostate(2)|stomach(1) 18 KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147) GTAAATTTAGGGATCTTCCCA 0.408000 5 208 0 0 1 0 0 LRP1B 53353 broad.mit.edu 37 2 141474279 141474279 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:141474279C>T ENST00000389484.3 - 36 6836 c.5865G>A c.(5863-5865)gtG>gtA p.V1955V NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 1955 protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) CTATCCCTTCCACTCTTCCCA 0.388000 TSP Lung(27;0.18) 4 142 0 0 1 0 0 CXCL12 6387 broad.mit.edu 37 10 44871449 44871449 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:44871449C>T ENST00000374426.2 - 4 335 c.298G>A c.(298-300)Gaa>Aaa p.E100K CXCL12_ENST00000374429.2_Intron|CXCL12_ENST00000395795.4_Intron|CXCL12_ENST00000395793.3_Intron NM_001033886.2 NP_001029058.1 P48061 SDF1_HUMAN chemokine (C-X-C motif) ligand 12 0 blood circulation|cell adhesion|cellular calcium ion homeostasis|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|negative regulation of leukocyte apoptosis|positive regulation of monocyte chemotaxis|regulation of actin polymerization or depolymerization|response to virus extracellular space chemokine activity|growth factor activity|signal transducer activity endometrium(1)|large_intestine(1)|lung(3)|skin(1) 6 Dexamethasone(DB01234) CCTATCTTTTCTTTTTTCCCC 0.393000 42 126 0 0 1 0 0 SLCO2A1 6578 broad.mit.edu 37 3 133667448 133667448 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:133667448G>A ENST00000310926.4 - 8 1310 c.1037C>T c.(1036-1038)tCc>tTc p.S346F SLCO2A1_ENST00000493729.1_Missense_Mutation_p.S270F NM_005630.2 NP_005621.2 Q92959 SO2A1_HUMAN solute carrier organic anion transporter family, member 2A1 346 sodium-independent organic anion transport integral to plasma membrane|membrane fraction prostaglandin transmembrane transporter activity|protein binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(2) 30 GAGGAAGGTGGAGAGGCCAGC 0.567000 79 135 0 0 1 0 0 PIP5K1B 8395 broad.mit.edu 37 9 71503965 71503965 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:71503965G>A ENST00000265382.3 + 7 692 c.387G>A c.(385-387)gtG>gtA p.V129V PIP5K1B_ENST00000541509.1_Silent_p.V129V NM_003558.2 NP_003549.1 O14986 PI51B_HUMAN phosphatidylinositol-4-phosphate 5-kinase, type I, beta 129 PIPK. endomembrane system|membrane|uropod 1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|protein binding breast(1)|large_intestine(2)|stomach(1) 4 Lung(182;0.133) TGTTTTTTGTGACCAGTGATG 0.383000 35 96 0 0 1 0 0 UNC13C 440279 broad.mit.edu 37 15 54306001 54306001 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr15:54306001G>A ENST00000545554.1 + 1 901 c.901G>A c.(901-903)Gaa>Aaa p.E301K UNC13C_ENST00000260323.11_Missense_Mutation_p.E301K|UNC13C_ENST00000537900.1_Missense_Mutation_p.E301K Q8NB66 UN13C_HUMAN unc-13 homolog C (C. elegans) 301 exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4) 121 GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124) GTCTCGGAGGGAAACTAGAGA 0.428000 41 107 0 0 1 0 0 NRG1 3084 broad.mit.edu 37 8 32505460 32505460 + Missense_Mutation SNP A A T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:32505460A>T ENST00000520502.2 + 1 224 c.224A>T c.(223-225)aAa>aTa p.K75I NRG1_ENST00000341377.5_Intron|NRG1_ENST00000521670.1_Intron|NRG1_ENST00000338921.4_Intron|NRG1_ENST00000519301.1_Intron|NRG1_ENST00000523079.1_Intron|NRG1_ENST00000356819.4_Intron|NRG1_ENST00000287842.3_Intron|NRG1_ENST00000287845.5_Intron|NRG1_ENST00000405005.2_Intron|NRG1_ENST00000520407.1_Intron|NRG1_ENST00000287840.5_Intron NM_013959.3 NP_039253.1 Q02297 NRG1_HUMAN neuregulin 1 286 Ig-like C2-type. activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|Notch signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane cytokine activity|ErbB-3 class receptor binding|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1) 39 Breast(100;0.203) KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943) AACTCAGAGAAAATCTGCATT 0.567000 46 117 0 0 1 0 0 KLF10 7071 broad.mit.edu 37 8 103663675 103663675 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:103663675G>A ENST00000395884.3 - 3 1754 c.852C>T c.(850-852)ccC>ccT p.P284P KLF10_ENST00000285407.6_Silent_p.P295P NM_001032282.2 NP_001027453.1 Q13118 KLF10_HUMAN Kruppel-like factor 10 295 cell proliferation|cell-cell signaling|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|skeletal system development|transforming growth factor beta receptor signaling pathway nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding cervix(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|prostate(3) 18 all_epithelial(15;5.63e-07)|Lung NSC(17;8.18e-05)|all_lung(17;0.000169) OV - Ovarian serous cystadenocarcinoma(57;0.000112)|STAD - Stomach adenocarcinoma(118;0.0826) GTGGCTGGCTGGGAGGAGTGC 0.587000 34 67 0 0 1 0 0 DSPP 1834 broad.mit.edu 37 4 88533642 88533642 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:88533642G>A ENST00000399271.1 + 4 424 c.304G>A c.(304-306)Gaa>Aaa p.E102K RP11-742B18.1_ENST00000506480.1_RNA|DSPP_ENST00000282478.7_Missense_Mutation_p.E102K NM_014208.3 NP_055023.2 Q9NZW4 DSPP_HUMAN dentin sialophosphoprotein 102 biomineral tissue development|ossification|skeletal system development proteinaceous extracellular matrix calcium ion binding|collagen binding|extracellular matrix structural constituent breast(2)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 47 Hepatocellular(203;0.114)|all_hematologic(202;0.236) OV - Ovarian serous cystadenocarcinoma(123;0.000508) ATTAGCAAACGAAGAGGGGAA 0.443000 25 29 0 0 1 0 0 EPPK1 83481 broad.mit.edu 37 8 144940356 144940356 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:144940356G>A ENST00000525985.1 - 2 7137 c.7066C>T c.(7066-7068)Cgc>Tgc p.R2356C P58107 EPIPL_HUMAN epiplakin 1 2356 cytoplasm|cytoskeleton protein binding|structural molecule activity NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) ACGGGCACGCGGTGGCTGTGC 0.697000 45 682 0 0 1 0 0 UBA2 10054 broad.mit.edu 37 19 34951441 34951441 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:34951441C>T ENST00000439527.2 + 14 1678 c.1180C>T c.(1180-1182)Cta>Tta p.L394L UBA2_ENST00000592791.1_Silent_p.L16L|UBA2_ENST00000246548.4_Silent_p.L490L Q9UBT2 SAE2_HUMAN ubiquitin-like modifier activating enzyme 2 490 protein sumoylation nucleus ATP binding|enzyme activator activity|ligase activity|metal ion binding|protein heterodimerization activity|SUMO activating enzyme activity breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|upper_aerodigestive_tract(1) 20 Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.211) AGGAACAATCCTAATATCTTC 0.343000 14 24 0 0 1 0 0 PTGES3 10728 broad.mit.edu 37 12 57064070 57064070 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:57064070G>A ENST00000262033.6 - 5 664 c.364C>T c.(364-366)Cgt>Tgt p.R122C PTGES3_ENST00000537473.1_5'UTR|PTGES3_ENST00000456859.2_Missense_Mutation_p.R86C|PTGES3_ENST00000448157.2_Missense_Mutation_p.R122C|PTGES3_ENST00000436399.2_Missense_Mutation_p.R89C|PTGES3_ENST00000414274.3_Intron NM_006601.5 NP_006592.3 Q15185 TEBP_HUMAN prostaglandin E synthase 3 (cytosolic) 122 Asp/Glu-rich. chaperone cofactor-dependent protein refolding|hormone biosynthetic process|prostaglandin biosynthetic process|signal transduction|telomere maintenance cytosol|telomerase holoenzyme complex prostaglandin-E synthase activity|telomerase activity|unfolded protein binding large_intestine(1)|lung(1) 2 TCAGAGAAACGATCAAAATTA 0.373000 19 47 0 0 1 0 0 LOC100506136 100506136 broad.mit.edu 37 7 96251800 96251800 + RNA SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:96251800C>T ENST00000606019.1 - 0 745 NR_038948.1 GTAGTATTTTCCTTTCTATCT 0.388000 8 9 0 0 1 0 0 LRRK2 120892 broad.mit.edu 37 12 40677786 40677786 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:40677786G>A ENST00000298910.7 + 19 2409 c.2351G>A c.(2350-2352)aGc>aAc p.S784N LRRK2_ENST00000343742.2_Missense_Mutation_p.S784N NM_198578.3 NP_940980.3 Q5S007 LRRK2_HUMAN leucine-rich repeat kinase 2 784 activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb external side of mitochondrial outer membrane ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2) 181 all_cancers(12;0.00108)|Breast(8;0.218) Lung NSC(34;0.0942)|all_lung(34;0.11) AAAGGTGACAGCCAGATCATC 0.453000 54 77 0 0 1 0 0 LOC645752 645752 broad.mit.edu 37 15 78211558 78211558 + RNA SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr15:78211558C>T ENST00000565869.1 + 0 111 RP11-114H24.2_ENST00000567226.1_RNA TTGGAGCTTTCCCTCCAGACC 0.577000 23 184 0 0 1 0 0 TRGC2 6967 broad.mit.edu 37 7 38289148 38289148 + RNA SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:38289148G>A ENST00000436911.2 - 0 25 TGGGCTTGGGGGAAACATCTG 0.378000 36 280 0 0 1 0 0 AMZ1 155185 broad.mit.edu 37 7 2748752 2748752 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:2748752G>A ENST00000312371.4 + 5 1013 c.645G>A c.(643-645)ccG>ccA p.P215P AMZ1_ENST00000489665.1_Intron|AMZ1_ENST00000407112.1_Intron NM_133463.1 NP_597720.1 Q400G9 AMZ1_HUMAN archaelysin family metallopeptidase 1 215 metallopeptidase activity|zinc ion binding breast(2)|kidney(1)|large_intestine(4)|lung(8)|skin(1) 16 Ovarian(82;0.0779) OV - Ovarian serous cystadenocarcinoma(56;5.03e-14) GGGAATTCCCGAAGTCGGGGC 0.682000 17 36 0 0 1 0 0 OR5H2 79310 broad.mit.edu 37 3 98002224 98002224 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:98002224G>A ENST00000355273.2 + 1 493 c.493G>A c.(493-495)Gaa>Aaa p.E165K RP11-325B23.2_ENST00000508616.1_lincRNA NM_001005482.1 NP_001005482.1 Q8NGV7 OR5H2_HUMAN olfactory receptor, family 5, subfamily H, member 2 165 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(1)|large_intestine(5)|lung(13)|ovary(3)|upper_aerodigestive_tract(1) 24 CTTAATTCATGAAGTCCTTAT 0.348000 31 78 0 0 1 0 0 VCAN 1462 broad.mit.edu 37 5 82817129 82817129 + Nonsense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:82817129C>T ENST00000265077.3 + 7 3569 c.3004C>T c.(3004-3006)Caa>Taa p.Q1002* VCAN_ENST00000502527.2_Intron|VCAN_ENST00000512590.2_Nonsense_Mutation_p.Q954*|VCAN_ENST00000342785.4_Nonsense_Mutation_p.Q1002*|VCAN_ENST00000343200.5_Intron NM_004385.4 NP_004376.2 P13611 CSPG2_HUMAN versican 1002 GAG-alpha (glucosaminoglycan attachment domain). cell adhesion|cell recognition|glial cell migration extracellular space|proteinaceous extracellular matrix calcium ion binding|hyaluronic acid binding|sugar binding NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 190 Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142) OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29) TGAACCCTCTCAAGACATACT 0.423000 22 59 0 0 1 0 0 C15orf27 123591 broad.mit.edu 37 15 76484416 76484416 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr15:76484416C>T ENST00000388942.3 + 9 1152 c.876C>T c.(874-876)agC>agT p.S292S NM_152335.2 NP_689548.2 Q2M3C6 CO027_HUMAN chromosome 15 open reading frame 27 292 integral to membrane endometrium(1)|large_intestine(1)|lung(10)|pancreas(1) 13 AGCCGCGCAGCCGCTTCAAAG 0.726000 5 18 0 0 1 0 0 TECTA 7007 broad.mit.edu 37 11 120996150 120996150 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:120996150C>T ENST00000392793.1 + 8 1614 c.1343C>T c.(1342-1344)tCc>tTc p.S448F TECTA_ENST00000264037.2_Missense_Mutation_p.S448F O75443 TECTA_HUMAN tectorin alpha 448 VWFD 1. cell-matrix adhesion|sensory perception of sound anchored to membrane|plasma membrane|proteinaceous extracellular matrix TECTA/TBCEL(2) NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 135 all_hematologic(175;0.208) Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166) GCCTCCATTTCCGTCCCAGGC 0.507000 197 161 0 0 1 0 0 MYO1E 4643 broad.mit.edu 37 15 59430425 59430425 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr15:59430425G>A ENST00000288235.4 - 27 3621 c.3222C>T c.(3220-3222)gcC>gcT p.A1074A NM_004998.3 NP_004989.2 Q12965 MYO1E_HUMAN myosin IE 1074 SH3. actin filament-based movement myosin complex actin binding|ATP binding|ATPase activity, coupled|calmodulin binding|microfilament motor activity breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(6)|lung(10)|pancreas(2)|prostate(1)|urinary_tract(1) 33 all cancers(107;0.207) TAATGTCATTGGCATTAAAGC 0.502000 OREG0023155 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 78 176 0 0 1 0 0 TCF20 6942 broad.mit.edu 37 22 42607563 42607563 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr22:42607563G>A ENST00000359486.3 - 1 3885 c.3749C>T c.(3748-3750)cCc>cTc p.P1250L TCF20_ENST00000335626.4_Missense_Mutation_p.P1250L NM_005650.1 NP_005641.1 Q9UGU0 TCF20_HUMAN transcription factor 20 (AR1) 1250 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|transcription coactivator activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5) 66 CATGATTAAGGGGTTTTGAGA 0.463000 39 69 0 0 1 0 0 ATP2B2 491 broad.mit.edu 37 3 10429999 10429999 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:10429999C>T ENST00000397077.1 - 8 1444 c.869G>A c.(868-870)gGg>gAg p.G290E ATP2B2_ENST00000352432.4_Missense_Mutation_p.G290E|ATP2B2_ENST00000343816.4_Missense_Mutation_p.G290E|ATP2B2_ENST00000383800.4_Missense_Mutation_p.G290E|ATP2B2_ENST00000360273.2_Missense_Mutation_p.G290E Q01814 AT2B2_HUMAN ATPase, Ca++ transporting, plasma membrane 2 290 ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation cytosol|integral to membrane|plasma membrane ATP binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2) 74 ACCACCAGCCCCCAGGAGGGT 0.507000 89 197 0 0 1 0 0 SESN1 27244 broad.mit.edu 37 6 109308786 109308786 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:109308786G>A ENST00000436639.2 - 10 2362 c.1617C>T c.(1615-1617)ctC>ctT p.L539L SESN1_ENST00000302071.2_Silent_p.L414L|SESN1_ENST00000356644.7_Silent_p.L480L NM_014454.2 NP_055269.1 Q9Y6P5 SESN1_HUMAN sestrin 1 480 cell cycle arrest|negative regulation of cell proliferation|response to DNA damage stimulus nucleus cervix(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|urinary_tract(1) 10 all_cancers(87;6.45e-05)|Acute lymphoblastic leukemia(125;3.55e-10)|all_hematologic(75;1.68e-07)|all_epithelial(87;0.0106)|Colorectal(196;0.0637) Epithelial(106;0.0014)|BRCA - Breast invasive adenocarcinoma(108;0.00146)|all cancers(137;0.0031)|OV - Ovarian serous cystadenocarcinoma(136;0.0117) GAGCATAAAGGAGTTCTGCTT 0.383000 89 38 0 0 1 0 0 DSCAM 1826 broad.mit.edu 37 21 41719737 41719737 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr21:41719737C>T ENST00000400454.1 - 6 1547 c.1070G>A c.(1069-1071)gGa>gAa p.G357E NM_001389.3 NP_001380.2 O60469 DSCAM_HUMAN Down syndrome cell adhesion molecule 357 Ig-like C2-type 4. cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction protein binding NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4) 142 all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103) CACATTTTTTCCAGGGTTGAG 0.507000 105 199 0 0 1 0 0 ZNF285 26974 broad.mit.edu 37 19 44892043 44892043 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:44892043C>T ENST00000330997.4 - 4 428 c.364G>A c.(364-366)Gaa>Aaa p.E122K ZNF285_ENST00000591679.1_Missense_Mutation_p.E129K|CTC-512J12.6_ENST00000588212.1_Intron|ZNF285_ENST00000544719.2_Missense_Mutation_p.E122K NM_152354.3 NP_689567.3 zinc finger protein 285 breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|prostate(5)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 44 ACATAGTTTTCATTTTCAGAA 0.408000 60 105 0 0 1 0 0 NXF4 55999 broad.mit.edu 37 X 101805037 101805037 + RNA SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chrX:101805037G>A ENST00000360035.2 + 0 145 NR_002216.1 endometrium(2)|lung(8) 10 GGAGGTTAAGGGGGATCCTGA 0.537000 6 128 0 0 1 0 0 OR7E47P 26628 broad.mit.edu 37 12 52501238 52501238 + RNA SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:52501238G>A ENST00000546390.1 + 0 637 TGGTGCTGGGGAACCTGCTCA 0.557000 11 22 0 0 1 0 0 CHRM2 1129 broad.mit.edu 37 7 136700977 136700977 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:136700977C>T ENST00000445907.2 + 3 1893 c.1365C>T c.(1363-1365)ctC>ctT p.L455L AC009264.1_ENST00000439694.1_RNA|CHRM2_ENST00000397608.3_Silent_p.L455L|CHRM2_ENST00000453373.1_Silent_p.L455L|AC009264.1_ENST00000598184.1_RNA|AC009264.1_ENST00000593789.1_RNA|AC009264.1_ENST00000425981.2_RNA|AC009264.1_ENST00000586239.1_RNA|CHRM2_ENST00000320658.5_Silent_p.L455L|AC009264.1_ENST00000597642.1_RNA|AC009264.1_ENST00000592183.1_RNA|CHRM2_ENST00000402486.3_Silent_p.L455L|CHRM2_ENST00000401861.1_Silent_p.L455L NM_001006627.1|NM_001006629.1 NP_001006628.1|NP_001006630.1 P08172 ACM2_HUMAN cholinergic receptor, muscarinic 2 455 activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|nervous system development|regulation of heart contraction|response to virus cell junction|integral to plasma membrane|postsynaptic membrane muscarinic acetylcholine receptor activity|protein binding central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 68 Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508) AACACCTTCTCATGTGTCATT 0.408000 59 143 0 0 1 0 0 NFIX 4784 broad.mit.edu 37 19 13189451 13189451 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:13189451G>A ENST00000397661.2 + 7 1210 c.980G>A c.(979-981)gGa>gAa p.G327E NFIX_ENST00000585575.1_Missense_Mutation_p.G319E|NFIX_ENST00000360105.4_Intron|NFIX_ENST00000358552.3_Intron|NFIX_ENST00000588228.1_Missense_Mutation_p.G280E|NFIX_ENST00000587760.1_Missense_Mutation_p.G319E|NFIX_ENST00000587260.1_Missense_Mutation_p.G326E|NFIX_ENST00000592199.1_Missense_Mutation_p.G327E NM_002501.2 NP_002492.2 Q14938 NFIX_HUMAN nuclear factor I/X (CCAAT-binding transcription factor) 327 DNA replication|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(1) 11 OV - Ovarian serous cystadenocarcinoma(19;8.2e-22) AAGAAGTCAGGAAAGCTGGAC 0.642000 6 8 0 0 1 0 0 OR1A1 8383 broad.mit.edu 37 17 3119201 3119201 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:3119201G>A ENST00000304094.1 + 1 287 c.287G>A c.(286-288)gGa>gAa p.G96E NM_014565.2 NP_055380.2 Q9P1Q5 OR1A1_HUMAN olfactory receptor, family 1, subfamily A, member 1 96 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 23 TCTTTTGGGGGATGCCTAACG 0.493000 51 93 0 0 1 0 0 ITGBL1 9358 broad.mit.edu 37 13 102235602 102235602 + Missense_Mutation SNP T T C TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr13:102235602T>C ENST00000376180.3 + 6 983 c.764T>C c.(763-765)gTt>gCt p.V255A ITGBL1_ENST00000545560.2_Missense_Mutation_p.V114A|ITGBL1_ENST00000376162.3_Missense_Mutation_p.V162A NM_001271756.1|NM_004791.1 NP_001258685.1|NP_004782.1 O95965 ITGBL_HUMAN integrin, beta-like 1 (with EGF-like repeat domains) 255 Cysteine-rich tandem repeats. cell-matrix adhesion|integrin-mediated signaling pathway extracellular region|integrin complex binding|receptor activity breast(1)|large_intestine(6)|lung(16)|ovary(1)|prostate(4)|skin(3) 31 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) TGTCACGATGTTGATCCGACT 0.438000 10 174 0 0 1 0 0 CD1C 911 broad.mit.edu 37 1 158262422 158262422 + Missense_Mutation SNP T T A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:158262422T>A ENST00000368170.3 + 4 926 c.647T>A c.(646-648)cTt>cAt p.L216H NM_001765.2 NP_001756.2 P29017 CD1C_HUMAN CD1c molecule 216 Ig-like. antigen processing and presentation|T cell activation involved in immune response endosome membrane|integral to plasma membrane endogenous lipid antigen binding|exogenous lipid antigen binding|glycolipid binding|lipopeptide binding NS(1)|endometrium(3)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1) 39 all_hematologic(112;0.0378) CGCCCCAGCCTTGGGTCTGGC 0.527000 8 118 0 0 1 0 0 PXDN 7837 broad.mit.edu 37 2 1653221 1653221 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:1653221G>A ENST00000252804.4 - 17 2381 c.2331C>T c.(2329-2331)acC>acT p.T777T NM_012293.1 NP_036425.1 Q92626 PXDN_HUMAN peroxidasin homolog (Drosophila) 777 extracellular matrix organization|hydrogen peroxide catabolic process|immune response endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 112 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716) all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228) TGCCCCGAGGGGTGTTGAAGC 0.652000 51 88 0 0 1 0 0 GRIN3A 116443 broad.mit.edu 37 9 104499725 104499725 + Silent SNP G G A rs138555829 byFrequency TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:104499725G>A ENST00000361820.3 - 1 1137 c.537C>T c.(535-537)tcC>tcT p.S179S NM_133445.2 NP_597702.2 Q8TCU5 NMD3A_HUMAN glutamate receptor, ionotropic, N-methyl-D-aspartate 3A 179 response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1) 80 Acute lymphoblastic leukemia(62;0.0568) Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740) TTTGCAGGAAGGAGAAAGGGT 0.592000 24 67 0 0 1 0 0 CLCN7 1186 broad.mit.edu 37 16 1509187 1509187 + Splice_Site SNP G G T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr16:1509187G>T ENST00000382745.4 - 7 1201 c.594_splice c.e7-1 p.P199_splice CLCN7_ENST00000262318.8_Splice_Site_p.P175_splice|CLCN7_ENST00000448525.1_Splice_Site_p.P175_splice NM_001287.5 NP_001278.1 P51798 CLCN7_HUMAN chloride channel, voltage-sensitive 7 199 integral to membrane|lysosomal membrane antiporter activity|ATP binding|voltage-gated chloride channel activity breast(2)|central_nervous_system(3)|endometrium(3)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|skin(2) 24 Hepatocellular(780;0.0893) AGCAGCCACCGGCTGAAAGAG 0.662000 23 38 3.6726e-16 3.70437e-16 1 1 0 RP11-535M15.2 0 broad.mit.edu 37 9 99489462 99489462 + RNA SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:99489462C>T ENST00000602289.1 + 0 451 AACTGGCAGACTCTGAAGATG 0.478000 10 31 0 0 1 0 0 CIITA 4261 broad.mit.edu 37 16 11016097 11016097 + Missense_Mutation SNP C C T rs141713994 TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr16:11016097C>T ENST00000324288.8 + 17 3356 c.3223C>T c.(3223-3225)Cgg>Tgg p.R1075W CIITA_ENST00000381835.5_Missense_Mutation_p.R491W NM_000246.3 NP_000237.2 P33076 C2TA_HUMAN class II, major histocompatibility complex, transactivator 1075 interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|response to antibiotic|transcription, DNA-dependent nucleus activating transcription factor binding|ATP binding|protein C-terminus binding|protein complex binding|transcription coactivator activity|transcription regulatory region DNA binding central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2) 12 GGTGTCCCTCCGGGTGATGGA 0.622000 T """FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6""" """PMBL, Hodgkin Lymphona, """ 69 175 0 0 1 0 0 ERN2 10595 broad.mit.edu 37 16 23718361 23718361 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr16:23718361G>A ENST00000256797.4 - 5 658 c.490C>T c.(490-492)Ccc>Tcc p.P164S ERN2_ENST00000457008.2_Missense_Mutation_p.P116S NM_033266.3 NP_150296.3 Q76MJ5 ERN2_HUMAN endoplasmic reticulum to nucleus signaling 2 116 apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent endoplasmic reticulum membrane|integral to membrane ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity large_intestine(2)|lung(2)|ovary(2) 6 GBM - Glioblastoma multiforme(48;0.0156) CTGCGGCAGGGAGAGGCATGA 0.552000 24 50 0 0 1 0 0 CHD8 57680 broad.mit.edu 37 14 21871192 21871192 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr14:21871192G>A ENST00000399982.2 - 17 3762 c.3698C>T c.(3697-3699)cCa>cTa p.P1233L CHD8_ENST00000555962.1_5'UTR|CHD8_ENST00000430710.3_Missense_Mutation_p.P954L|CHD8_ENST00000557364.1_Missense_Mutation_p.P1233L NM_001170629.1 NP_001164100.1 Q9HCK8 CHD8_HUMAN chromodomain helicase DNA binding protein 8 1233 Helicase C-terminal. ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent MLL1 complex ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 85 all_cancers(95;0.00121) Epithelial(56;2.55e-06)|all cancers(55;1.73e-05) GBM - Glioblastoma multiforme(265;0.00424) GTCATTTTGTGGATTCCAGTC 0.413000 25 57 0 0 1 0 0 DENND2C 163259 broad.mit.edu 37 1 115142002 115142002 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:115142002G>A ENST00000393274.1 - 16 2801 c.2176C>T c.(2176-2178)Cca>Tca p.P726S DENND2C_ENST00000393276.3_Missense_Mutation_p.P669S|DENND2C_ENST00000481894.1_5'UTR|DENND2C_ENST00000393277.1_Intron NM_001256404.1 NP_001243333.1 Q68D51 DEN2C_HUMAN DENN/MADD domain containing 2C 726 DENN. NS(2)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|skin(3) 37 all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211) all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) GGCAGGACTGGGATATAGGTA 0.493000 8 91 0 0 1 0 0 NPHS1 4868 broad.mit.edu 37 19 36339034 36339034 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:36339034G>A ENST00000378910.5 - 11 1348 c.1349C>T c.(1348-1350)cCa>cTa p.P450L NPHS1_ENST00000353632.6_Missense_Mutation_p.P450L NM_004646.3 NP_004637.1 O60500 NPHN_HUMAN nephrosis 1, congenital, Finnish type (nephrin) 450 Ig-like C2-type 5. cell adhesion|excretion|muscle organ development integral to plasma membrane NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 74 all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) CTGGCCCTCTGGGGGACCCTC 0.617000 54 102 0 0 1 0 0 PAM 5066 broad.mit.edu 37 5 102364591 102364591 + Splice_Site SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:102364591G>A ENST00000438793.3 + 25 3214 c.2743_splice c.e25-1 p.G915_splice PAM_ENST00000348126.2_Splice_Site_p.G808_splice|PAM_ENST00000455264.2_Splice_Site_p.G847_splice|PAM_ENST00000379787.4_Intron|PAM_ENST00000304400.7_Splice_Site_p.G916_splice|PAM_ENST00000346918.2_Splice_Site_p.G829_splice|PAM_ENST00000274392.9_Splice_Site_p.G817_splice NM_000919.3|NM_001177306.1|NM_138766.2 NP_000910.2|NP_001170777.1|NP_620121.1 P19021 AMD_HUMAN peptidylglycine alpha-amidating monooxygenase 915 peptide metabolic process|protein modification process extracellular region|integral to membrane|stored secretory granule L-ascorbic acid binding|peptidylamidoglycolate lyase activity|peptidylglycine monooxygenase activity|protein binding endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(2)|upper_aerodigestive_tract(1) 25 all_cancers(142;3.12e-07)|all_epithelial(76;3.48e-10)|Prostate(80;0.00914)|Lung NSC(167;0.0213)|Ovarian(225;0.024)|Colorectal(57;0.0251)|all_lung(232;0.0284) Epithelial(69;1.1e-13)|COAD - Colon adenocarcinoma(37;0.0127) Vitamin C(DB00126) TTTTTTTCAGGAAAGGGAAGT 0.423000 5 85 0 0 1 0 0 CARD11 84433 broad.mit.edu 37 7 2984002 2984002 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:2984002G>A ENST00000396946.4 - 5 931 c.528C>T c.(526-528)ttC>ttT p.F176F AC004906.3_ENST00000423194.1_RNA NM_032415.4 NP_115791.3 Q9BXL7 CAR11_HUMAN caspase recruitment domain family, member 11 176 positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway cytosol|membrane raft|plasma membrane CARD domain binding|guanylate kinase activity NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2) 150 Ovarian(82;0.0115) OV - Ovarian serous cystadenocarcinoma(56;8.44e-14) ACCGCTCCTGGAAGGTTAGCA 0.577000 Mis DLBCL 7 164 0 0 1 0 0 MARVELD3 91862 broad.mit.edu 37 16 71674503 71674503 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr16:71674503G>A ENST00000299952.4 + 3 849 c.806G>A c.(805-807)gGt>gAt p.G269D PHLPP2_ENST00000540628.1_3'UTR|MARVELD3_ENST00000561682.1_Intron|MARVELD3_ENST00000565261.1_3'UTR NM_001017967.2 NP_001017967.2 Q96A59 MALD3_HUMAN MARVEL domain containing 3 272 MARVEL. integral to membrane NS(1)|endometrium(3)|large_intestine(5)|lung(6)|skin(2) 17 Ovarian(137;0.125) CTGATATACGGTGGCGTGGCT 0.567000 6 51 0 0 1 0 0 EFCAB4B 84766 broad.mit.edu 37 12 3788082 3788082 + Splice_Site SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:3788082C>T ENST00000440314.2 - 6 996 c.524_splice c.e6+1 p.D175_splice EFCAB4B_ENST00000252322.1_Splice_Site_p.D175_splice|EFCAB4B_ENST00000444507.1_Splice_Site_p.D175_splice NM_001144958.1 NP_001138430.1 Q9BSW2 EFC4B_HUMAN EF-hand calcium binding domain 4B 175 activation of store-operated calcium channel activity|store-operated calcium entry cytoplasm calcium ion binding|protein binding breast(1)|endometrium(3)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1) 24 OV - Ovarian serous cystadenocarcinoma(31;0.00287)|COAD - Colon adenocarcinoma(12;0.0264) ACCACTTACTCTTCCAACACC 0.507000 48 123 0 0 1 0 0 HTR4 3360 broad.mit.edu 37 5 147928263 147928263 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:147928263C>T ENST00000360693.3 - 4 459 c.321G>A c.(319-321)tcG>tcA p.S107S HTR4_ENST00000377888.3_Silent_p.S107S|HTR4_ENST00000520514.1_Silent_p.S107S|HTR4_ENST00000362016.2_Silent_p.S107S|HTR4_ENST00000314512.6_Silent_p.S107S|HTR4_ENST00000354217.2_Silent_p.S107S|HTR4_ENST00000521735.1_Silent_p.S107S|HTR4_ENST00000517929.1_Silent_p.S107S|HTR4_ENST00000521530.1_Silent_p.S107S NM_001040173.2 NP_001035263.1 Q13639 5HT4R_HUMAN 5-hydroxytryptamine (serotonin) receptor 4, G protein-coupled 107 G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cell proliferation endosome|integral to plasma membrane|membrane fraction serotonin receptor activity endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) Cisapride(DB00604)|Rizatriptan(DB00953)|Tegaserod(DB01079)|Zolmitriptan(DB00315) GGTGAAAAATCGATGCCGTTG 0.488000 14 21 0 0 1 0 0 DCLK3 85443 broad.mit.edu 37 3 36779778 36779778 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:36779778G>A ENST00000416516.2 - 2 863 c.373C>T c.(373-375)Ctt>Ttt p.L125F NM_033403.1 NP_208382.1 Q9C098 DCLK3_HUMAN doublecortin-like kinase 3 125 cytoplasm|nucleus ATP binding|protein serine/threonine kinase activity breast(3)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 48 TCCACCCCAAGATGCTTCTCT 0.572000 6 319 0 0 1 0 0 NPFFR2 10886 broad.mit.edu 37 4 73012886 73012886 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:73012886G>A ENST00000308744.6 + 4 1024 c.926G>A c.(925-927)cGg>cAg p.R309Q NPFFR2_ENST00000358749.3_Missense_Mutation_p.R207Q|NPFFR2_ENST00000395999.1_Missense_Mutation_p.R210Q|NPFFR2_ENST00000506359.1_3'UTR|NPFFR2_ENST00000344413.5_3'UTR NM_004885.2 NP_004876.2 Q9Y5X5 NPFF2_HUMAN neuropeptide FF receptor 2 309 detection of abiotic stimulus actin cytoskeleton|integral to plasma membrane neuropeptide receptor activity p.R309Q(1) NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(24)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 43 Lung(101;0.0935)|LUSC - Lung squamous cell carcinoma(112;0.138) TACTGGTGCCGGGAAGACTGG 0.453000 36 70 0 0 1 0 0 ARSA 410 broad.mit.edu 37 22 51065117 51065117 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr22:51065117G>A ENST00000547307.1 - 4 1155 c.750C>T c.(748-750)tcC>tcT p.S250S ARSA_ENST00000216124.5_Silent_p.S252S|ARSA_ENST00000547805.1_Silent_p.S250S|ARSA_ENST00000453344.2_Silent_p.S166S|ARSA_ENST00000395619.3_Silent_p.S252S|ARSA_ENST00000356098.5_Silent_p.S252S|ARSA_ENST00000395621.3_Silent_p.S252S P15289 ARSA_HUMAN arylsulfatase A 250 S -> Y (in MLD; infantile-onset). lysosome arylsulfatase activity|calcium ion binding|cerebroside-sulfatase activity endometrium(1)|large_intestine(1)|lung(5)|pancreas(1)|skin(1) 9 all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247) Micafungin(DB01141) GCTCCATCAGGGAGTCCCCAA 0.597000 41 60 0 0 1 0 0 CHAF1A 10036 broad.mit.edu 37 19 4432178 4432178 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:4432178C>T ENST00000301280.5 + 12 2278 c.2177C>T c.(2176-2178)tCc>tTc p.S726F CHAF1A_ENST00000587368.1_3'UTR NM_005483.2 NP_005474.2 Q13111 CAF1A_HUMAN chromatin assembly factor 1, subunit A (p150) 726 Binds to p60. cell cycle|DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent CAF-1 complex|WINAC complex chromatin binding|chromo shadow domain binding|unfolded protein binding breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1) 27 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18) CCCAAGGCCTCCAAGCGGGAG 0.652000 Chromatin Structure 25 41 0 0 1 0 0 CLCN1 1180 broad.mit.edu 37 7 143048897 143048897 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:143048897C>T ENST00000343257.2 + 23 2893 c.2806C>T c.(2806-2808)Cca>Tca p.P936S NM_000083.2 NP_000074.2 P35523 CLCN1_HUMAN chloride channel, voltage-sensitive 1 936 muscle contraction chloride channel complex|integral to plasma membrane voltage-gated chloride channel activity breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2) 58 Melanoma(164;0.205) ATCTCCTTCCCCAGAGCCCCC 0.637000 33 92 0 0 1 0 0 LRRK2 120892 broad.mit.edu 37 12 40702295 40702295 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:40702295C>T ENST00000298910.7 + 29 4044 c.3986C>T c.(3985-3987)gCt>gTt p.A1329V NM_198578.3 NP_940980.3 Q5S007 LRRK2_HUMAN leucine-rich repeat kinase 2 1329 Roc. activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb external side of mitochondrial outer membrane ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2) 181 all_cancers(12;0.00108)|Breast(8;0.218) Lung NSC(34;0.0942)|all_lung(34;0.11) TTAAAAAAGGCTGTGCCTTAT 0.313000 30 50 0 0 1 0 0 MXRA5 25878 broad.mit.edu 37 X 3248289 3248289 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chrX:3248289C>T ENST00000217939.6 - 4 633 c.479G>A c.(478-480)gGa>gAa p.G160E NM_015419.3 NP_056234.2 Q9NR99 MXRA5_HUMAN matrix-remodelling associated 5 160 extracellular region NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2) 157 all_lung(23;0.00031)|Lung NSC(23;0.000946) GAGGAGATTTCCTTCCAAATG 0.468000 36 3 0 0 1 0 0 HAAO 23498 broad.mit.edu 37 2 42996982 42996982 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:42996982C>T ENST00000294973.6 - 7 556 c.501G>A c.(499-501)gaG>gaA p.E167E NM_012205.2 NP_036337.2 P46952 3HAO_HUMAN 3-hydroxyanthranilate 3,4-dioxygenase 167 Linker (By similarity). neuron homeostasis|pyridine nucleotide biosynthetic process|quinolinate biosynthetic process|response to cadmium ion|response to zinc ion|tryptophan catabolic process cytosol|soluble fraction 3-hydroxyanthranilate 3,4-dioxygenase activity|electron carrier activity|ferrous iron binding breast(2)|cervix(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|urinary_tract(2) 11 GGAATGGTGGCTCCTTGAGCA 0.642000 34 96 0 0 1 0 0 ZNF860 344787 broad.mit.edu 37 3 32030665 32030665 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:32030665G>A ENST00000360311.4 + 2 643 c.94G>A c.(94-96)Gaa>Aaa p.E32K NM_001137674.2 NP_001131146.2 A6NHJ4 ZN860_HUMAN zinc finger protein 860 32 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|lung(4)|ovary(1) 8 TGTGGCTATAGAATTCTCTTT 0.483000 51 119 0 0 1 0 0 AMDHD1 144193 broad.mit.edu 37 12 96350502 96350502 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:96350502G>A ENST00000266736.2 + 4 455 c.349G>A c.(349-351)Gga>Aga p.G117R NM_152435.2 NP_689648.2 Q96NU7 HUTI_HUMAN amidohydrolase domain containing 1 117 histidine catabolic process to glutamate and formamide cytosol imidazolonepropionase activity|metal ion binding central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|skin(1) 22 CCAGGCCGGAGGAGGGATCCA 0.597000 4 100 0 0 1 0 0 MYO15A 51168 broad.mit.edu 37 17 18023423 18023423 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:18023423G>A ENST00000205890.5 + 2 1647 c.1309G>A c.(1309-1311)Gaa>Aaa p.E437K NM_016239.3 NP_057323.3 Q9UKN7 MYO15_HUMAN myosin XVA 437 Myosin head-like. sensory perception of sound cytoplasm|myosin complex|stereocilium actin binding|ATP binding|calmodulin binding|motor activity breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 99 all_neural(463;0.228) CGAGCTGGAGGAACCAGAGGA 0.662000 29 74 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9088195 9088195 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:9088195G>A ENST00000397910.4 - 1 3823 c.3620C>T c.(3619-3621)cCa>cTa p.P1207L NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 1207 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 ACCACTTGTTGGAATATTACT 0.498000 12 241 0 0 1 0 0 PSG11 5680 broad.mit.edu 37 19 43528859 43528859 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:43528859G>A ENST00000401740.1 - 2 517 c.414C>T c.(412-414)ttC>ttT p.F138F PSG11_ENST00000320078.7_Silent_p.F138F|PSG11_ENST00000403486.1_Intron|PSG11_ENST00000306322.7_Intron Q9UQ72 PSG11_HUMAN pregnancy specific beta-1-glycoprotein 11 138 Ig-like V-type. female pregnancy extracellular region breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1) 26 Prostate(69;0.00682) AGGTGAAGGTGAAATATCCAG 0.507000 82 200 0 0 1 0 0 KCNH2 3757 broad.mit.edu 37 7 150647356 150647356 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:150647356C>T ENST00000392968.2 - 7 3130 c.2010G>A c.(2008-2010)ggG>ggA p.G670G KCNH2_ENST00000430723.3_Silent_p.G766G|KCNH2_ENST00000262186.5_Silent_p.G766G|KCNH2_ENST00000330883.4_Silent_p.G426G Q12809 KCNH2_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 2 766 blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent voltage-gated potassium channel complex delayed rectifier potassium channel activity|two-component sensor activity NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1) 42 all_neural(206;0.219) OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661) CCAGTGTGTCCCCTGGCGGTG 0.652000 47 156 0 0 1 0 0 F2RL2 2151 broad.mit.edu 37 5 75914225 75914225 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:75914225G>A ENST00000296641.4 - 2 510 c.307C>T c.(307-309)Ctg>Ttg p.L103L IQGAP2_ENST00000502745.1_Intron|F2RL2_ENST00000504899.1_Silent_p.L81L|IQGAP2_ENST00000274364.6_Intron|IQGAP2_ENST00000396234.3_Intron|IQGAP2_ENST00000379730.3_Intron NM_004101.3 NP_004092.1 O00254 PAR3_HUMAN coagulation factor II (thrombin) receptor-like 2 103 platelet activation extracellular region|integral to plasma membrane phosphatidylinositol phospholipase C activity|protein binding|thrombin receptor activity central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(3) 32 all_lung(232;0.000462)|Lung NSC(167;0.00124)|Prostate(461;0.00955)|Ovarian(174;0.0129) all cancers(79;4.43e-43) ACAAACACCAGGAGGTAGATG 0.493000 64 136 0 0 1 0 0 DCAF8L1 139425 broad.mit.edu 37 X 27998526 27998526 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chrX:27998526G>A ENST00000441525.1 - 1 1040 c.926C>T c.(925-927)gCc>gTc p.A309V NM_001017930.1 NP_001017930.1 A6NGE4 DC8L1_HUMAN DDB1 and CUL4 associated factor 8-like 1 309 NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(24)|ovary(3)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1) 56 GAACACAACGGCATCTTCACC 0.488000 38 17 0 0 1 0 0 ZNF574 64763 broad.mit.edu 37 19 42584328 42584328 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:42584328C>T ENST00000600245.1 + 2 2225 c.1570C>T c.(1570-1572)Ccc>Tcc p.P524S ZNF574_ENST00000222339.7_Missense_Mutation_p.P614S|ZNF574_ENST00000359044.4_Missense_Mutation_p.P524S Q6ZN55 ZN574_HUMAN zinc finger protein 574 524 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 20 Prostate(69;0.059) GCGGCCCTTCCCCTGCCCTGA 0.622000 146 325 0 0 1 0 0 KIAA1324L 222223 broad.mit.edu 37 7 86547781 86547781 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:86547781C>T ENST00000450689.2 - 12 1755 c.1570G>A c.(1570-1572)Gac>Aac p.D524N KIAA1324L_ENST00000297222.6_Missense_Mutation_p.D284N|KIAA1324L_ENST00000444627.1_Missense_Mutation_p.D524N|KIAA1324L_ENST00000490995.1_5'UTR|KIAA1324L_ENST00000416314.1_Missense_Mutation_p.D357N NM_001142749.2 NP_001136221.1 A8MWY0 K132L_HUMAN KIAA1324-like 524 integral to membrane breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(14)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 44 Esophageal squamous(14;0.0058) AAAACACAGTCAGCTGAACAG 0.418000 35 97 0 0 1 0 0 IGHV4-31 28396 broad.mit.edu 37 14 106805264 106805264 + RNA SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr14:106805264G>A ENST00000438142.2 - 0 370 CAGCTTCAGGGAGAACTGGTT 0.532000 86 481 0 0 1 0 0 SPDYE3 441272 broad.mit.edu 37 7 99917609 99917609 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:99917609C>T ENST00000332397.6 + 10 1830 c.1646C>T c.(1645-1647)tCc>tTc p.S549F SPDYE3_ENST00000437326.2_Missense_Mutation_p.S172F NM_001004351.4 NP_001004351.3 A6NKU9 SPDE3_HUMAN speedy/RINGO cell cycle regulator family member E3 549 endometrium(10)|kidney(1)|lung(8)|urinary_tract(1) 20 GCCCACCTTTCCTAGAGCTCC 0.567000 40 95 0 0 1 0 0 PRG4 10216 broad.mit.edu 37 1 186280283 186280283 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:186280283G>A ENST00000445192.2 + 9 3662 c.3617G>A c.(3616-3618)gGa>gAa p.G1206E PRG4_ENST00000367484.3_Missense_Mutation_p.G735E|PRG4_ENST00000367483.4_Missense_Mutation_p.G1165E|PRG4_ENST00000367485.4_Missense_Mutation_p.G1113E|PRG4_ENST00000367486.3_Missense_Mutation_p.G1163E NM_005807.3 NP_005798.2 Q92954 PRG4_HUMAN proteoglycan 4 1206 Hemopexin-like 2. cell proliferation|immune response extracellular region polysaccharide binding|protein binding|scavenger receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1) 102 AACTGTGAAGGAAAAACTTTC 0.343000 65 58 0 0 1 0 0 IGSF21 84966 broad.mit.edu 37 1 18703395 18703395 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:18703395G>A ENST00000251296.1 + 8 1586 c.1203G>A c.(1201-1203)cgG>cgA p.R401R IGSF21_ENST00000473951.1_3'UTR NM_032880.4 NP_116269.3 Q96ID5 IGS21_HUMAN immunoglobin superfamily, member 21 401 Ig-like 2. extracellular region endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 40 Colorectal(325;0.000147)|Renal(390;0.00145)|all_lung(284;0.00366)|Lung NSC(340;0.00376)|Breast(348;0.00387)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439) UCEC - Uterine corpus endometrioid carcinoma (279;0.0121)|BRCA - Breast invasive adenocarcinoma(304;5.52e-05)|Kidney(64;0.00103)|KIRC - Kidney renal clear cell carcinoma(64;0.0102)|STAD - Stomach adenocarcinoma(196;0.0118)|READ - Rectum adenocarcinoma(331;0.157) TGCTGGAGCGGGTTCCCGCCG 0.657000 18 43 0 0 1 0 0 TYRO3 7301 broad.mit.edu 37 15 41860534 41860534 + Missense_Mutation SNP T T G TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr15:41860534T>G ENST00000263798.3 + 8 1305 c.1081T>G c.(1081-1083)Tcc>Gcc p.S361A TYRO3_ENST00000559066.1_Missense_Mutation_p.S316A NM_006293.3 NP_006284.2 Q06418 TYRO3_HUMAN TYRO3 protein tyrosine kinase 361 Fibronectin type-III 2. integral to plasma membrane ATP binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(26)|ovary(3)|prostate(1) 43 all_cancers(109;7.33e-15)|all_epithelial(112;2.8e-12)|Lung NSC(122;3.48e-08)|all_lung(180;1.71e-07)|Melanoma(134;0.0262) OV - Ovarian serous cystadenocarcinoma(18;3.31e-18)|GBM - Glioblastoma multiforme(113;9.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.117) CTACAAACTGTCCTGGGTTCA 0.532000 21 63 0 0 1 0 0 ENC1 8507 broad.mit.edu 37 5 73931093 73931093 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:73931093G>A ENST00000302351.4 - 2 2348 c.1218C>T c.(1216-1218)tcC>tcT p.S406S ENC1_ENST00000537006.1_Silent_p.S406S|ENC1_ENST00000510316.1_Silent_p.S333S NM_003633.3 NP_003624.1 O14682 ENC1_HUMAN ectodermal-neural cortex 1 (with BTB domain) 406 nervous system development cytoplasm|cytoskeleton|nuclear matrix actin binding breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 20 all_lung(232;0.0154)|Lung NSC(167;0.0331)|Ovarian(174;0.0798) OV - Ovarian serous cystadenocarcinoma(47;1.45e-59) AGACTGAGGGGGAGGCCGGGA 0.592000 56 76 0 0 1 0 0 EMILIN2 84034 broad.mit.edu 37 18 2891839 2891839 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr18:2891839G>A ENST00000254528.3 + 4 1873 c.1714G>A c.(1714-1716)Gaa>Aaa p.E572K NM_032048.2 NP_114437.2 Q9BXX0 EMIL2_HUMAN elastin microfibril interfacer 2 572 cell adhesion collagen extracellular matrix constituent conferring elasticity|protein binding breast(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(4) 48 READ - Rectum adenocarcinoma(2;0.1) GCCAAACAGGGAAGACCGCGC 0.478000 35 46 0 0 1 0 0 BPIFA2 140683 broad.mit.edu 37 20 31767442 31767442 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr20:31767442C>T ENST00000253362.2 + 7 824 c.678C>T c.(676-678)tcC>tcT p.S226S BPIFA2_ENST00000354932.5_Silent_p.S226S Q96DR5 SPLC2_HUMAN BPI fold containing family A, member 2 226 extracellular region lipid binding TCATCCACTCCCTGGATGTGA 0.527000 7 154 0 0 1 0 0 BNIP3P1 319138 broad.mit.edu 37 14 28734155 28734155 + RNA SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr14:28734155C>T ENST00000550043.1 + 0 560 CAAGGAGTTCCTCTTTAAACA 0.458000 41 68 0 0 1 0 0 TNRC6A 27327 broad.mit.edu 37 16 24834197 24834197 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr16:24834197C>T ENST00000395799.3 + 24 5505 c.5376C>T c.(5374-5376)atC>atT p.I1792I TNRC6A_ENST00000315183.7_Silent_p.I1743I|TNRC6A_ENST00000432286.2_Silent_p.I270I NM_014494.2 NP_055309.2 Q8NDV7 TNR6A_HUMAN trinucleotide repeat containing 6A 1792 RRM.|Sufficient for interaction with EIF2C2. negative regulation of translation involved in gene silencing by miRNA cytoplasmic mRNA processing body|micro-ribonucleoprotein complex nucleotide binding|RNA binding breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 64 GBM - Glioblastoma multiforme(48;0.0394) TTTCCTAGATCGATGGCTCAA 0.587000 5 96 0 0 1 0 0 SLC16A6 9120 broad.mit.edu 37 17 66270204 66270204 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:66270204G>A ENST00000327268.4 - 4 404 c.240C>T c.(238-240)ctC>ctT p.L80L ARSG_ENST00000448504.2_Intron|SLC16A6_ENST00000580666.1_Silent_p.L80L NM_001174166.1 NP_001167637.1 O15403 MOT7_HUMAN solute carrier family 16, member 6 80 integral to plasma membrane|membrane fraction monocarboxylic acid transmembrane transporter activity|symporter activity large_intestine(3)|lung(8)|prostate(1)|skin(1)|urinary_tract(2) 15 all_cancers(12;1.24e-09) BRCA - Breast invasive adenocarcinoma(8;3.17e-08)|LUSC - Lung squamous cell carcinoma(166;0.24) Pyruvic acid(DB00119) GGACTGTGGCGAGGGGAGCTG 0.552000 24 74 0 0 1 0 0 OR5L2 26338 broad.mit.edu 37 11 55595327 55595327 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:55595327C>T ENST00000378397.1 + 1 633 c.633C>T c.(631-633)atC>atT p.I211I NM_001004739.1 NP_001004739.1 Q8NGL0 OR5L2_HUMAN olfactory receptor, family 5, subfamily L, member 2 211 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 59 all_epithelial(135;0.208) GTGTTACCATCATGATCATCC 0.498000 HNSCC(27;0.073) 64 141 0 0 1 0 0 FRG1B 284802 broad.mit.edu 37 20 29632660 29632660 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr20:29632660G>A ENST00000278882.3 + 8 855 c.475G>A c.(475-477)Gag>Aag p.E159K FRG1B_ENST00000358464.4_Missense_Mutation_p.E159K endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 AAGTAAAGAAGAGAGTAAAAT 0.318000 17 1087 0 0 1 0 0 SCN1A 6323 broad.mit.edu 37 2 166868709 166868709 + Silent SNP G G A rs121918752 TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:166868709G>A ENST00000423058.2 - 19 3806 c.3789C>T c.(3787-3789)ttC>ttT p.F1263F AC010127.3_ENST00000597623.1_RNA|SCN1A_ENST00000409050.1_Silent_p.F1235F|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000375405.3_Silent_p.F1252F|SCN1A_ENST00000303395.4_Silent_p.F1263F NM_001165963.1|NM_001202435.1 NP_001159435.1|NP_001189364.1 P35498 SCN1A_HUMAN sodium channel, voltage-gated, type I, alpha subunit 1263 F -> L (in SMEI; dbSNP:rs121918752). voltage-gated sodium channel complex voltage-gated sodium channel activity NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1) 200 Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909) TTTCCAGAATGAAAATGTAAG 0.353000 26 48 0 0 1 0 0 PLXNA4 91584 broad.mit.edu 37 7 131865427 131865427 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:131865427C>T ENST00000359827.3 - 19 4519 c.3557G>A c.(3556-3558)gGg>gAg p.G1186E PLXNA4_ENST00000321063.4_Missense_Mutation_p.G1186E Q9HCM2 PLXA4_HUMAN plexin A4 1186 IPT/TIG 4. integral to membrane|intracellular|plasma membrane NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1) 45 CGGCTTCTCCCCAACCAGCAC 0.597000 28 105 0 0 1 0 0 FCRL3 115352 broad.mit.edu 37 1 157668387 157668387 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:157668387G>A ENST00000368184.3 - 4 376 c.85C>T c.(85-87)Cct>Tct p.P29S FCRL3_ENST00000368186.5_Missense_Mutation_p.P29S NM_052939.3 NP_443171.2 Q96P31 FCRL3_HUMAN Fc receptor-like 3 29 Ig-like C2-type 1. integral to membrane|plasma membrane receptor activity autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2) 69 all_hematologic(112;0.0378) GACCATGGAGGATTGAGGAGA 0.507000 29 85 0 0 1 0 0 ACSM4 341392 broad.mit.edu 37 12 7470622 7470622 + Splice_Site SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:7470622G>A ENST00000399422.4 + 5 813 c.764_splice c.e5-1 p.R255_splice NM_001080454.1 NP_001073923.1 P0C7M7 ACSM4_HUMAN acyl-CoA synthetase medium-chain family member 4 255 fatty acid metabolic process mitochondrial matrix ATP binding|butyrate-CoA ligase activity|metal ion binding endometrium(6)|kidney(1)|lung(14) 21 TATCATTTAGGTATTGGCTGG 0.418000 15 38 0 0 1 0 0 OR3A1 4994 broad.mit.edu 37 17 3194958 3194958 + Missense_Mutation SNP T T A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:3194958T>A ENST00000323404.1 - 1 918 c.919A>T c.(919-921)Atg>Ttg p.M307L RP11-64J4.2_ENST00000573491.1_RNA NM_002550.2 NP_002541.2 P47881 OR3A1_HUMAN olfactory receptor, family 3, subfamily A, member 1 307 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1) 20 CCTGTGAGCATCCTCCAGATG 0.478000 22 62 0 0 1 0 0 LATS2 26524 broad.mit.edu 37 13 21565416 21565416 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr13:21565416G>A ENST00000382592.4 - 3 875 c.470C>T c.(469-471)tCc>tTc p.S157F LATS2_ENST00000472754.1_5'UTR|LATS2_ENST00000542899.1_Missense_Mutation_p.S157F NM_014572.2 NP_055387.2 Q9NRM7 LATS2_HUMAN large tumor suppressor kinase 2 157 cell division|G1/S transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|intracellular protein kinase cascade|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity microtubule organizing center|nucleus|spindle pole ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity breast(4)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(2) 45 all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244) all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104) CTCACCTGGGGAGGTCTGCTT 0.592000 42 92 0 0 1 0 0 ABCA1 19 broad.mit.edu 37 9 107568562 107568562 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:107568562G>A ENST00000374736.3 - 31 4818 c.4424C>T c.(4423-4425)cCt>cTt p.P1475L NM_005502.3 NP_005493.2 O95477 ABCA1_HUMAN ATP-binding cassette, sub-family A (ABC1), member 1 1475 Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 115 OV - Ovarian serous cystadenocarcinoma(323;0.023) Adenosine triphosphate(DB00171)|Glibenclamide(DB01016) GGGACACACAGGCAGCATCTT 0.582000 13 128 0 0 1 0 0 IL7R 3575 broad.mit.edu 37 5 35876528 35876528 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:35876528C>T ENST00000303115.3 + 8 1449 c.1320C>T c.(1318-1320)tcC>tcT p.S440S IL7R_ENST00000343305.4_3'UTR NM_002185.3 NP_002176.2 P16871 IL7RA_HUMAN interleukin 7 receptor 440 immune response|regulation of DNA recombination extracellular region|integral to membrane antigen binding|interleukin-7 receptor activity NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3) 126 all_lung(31;0.00015) Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202) TTCTTACTTCCCTGGGATCAA 0.483000 """Mis, O""" """ALL, ETP ALL""" Severe combined immune deficiency 25 62 0 0 1 0 0 PCDHAC1 56135 broad.mit.edu 37 5 140308283 140308283 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:140308283G>A ENST00000253807.2 + 1 1806 c.1806G>A c.(1804-1806)cgG>cgA p.R602R PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHAC1_ENST00000409700.3_Silent_p.R602R|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA4_ENST00000530339.1_Intron NM_018898.3 NP_061721.2 NS(2)|breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|liver(2)|lung(13)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4) 65 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ACATCTCCCGGGCGTCTGACT 0.522000 39 82 0 0 1 0 0 UBR4 23352 broad.mit.edu 37 1 19504127 19504127 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:19504127G>A ENST00000375267.2 - 19 2468 c.2465C>T c.(2464-2466)aCc>aTc p.T822I UBR4_ENST00000375226.2_Missense_Mutation_p.T822I|UBR4_ENST00000375254.3_Missense_Mutation_p.T822I|UBR4_ENST00000375217.2_Missense_Mutation_p.T822I Q5T4S7 UBR4_HUMAN ubiquitin protein ligase E3 component n-recognin 4 822 interspecies interaction between organisms cytoplasm|cytoskeleton|integral to membrane|nucleus calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6) 171 Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256) UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816) GCCTGTCTCGGTGAAATTGTG 0.517000 12 100 0 0 1 0 0 HTR1B 3351 broad.mit.edu 37 6 78172353 78172353 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:78172353C>T ENST00000369947.2 - 1 1137 c.768G>A c.(766-768)ctG>ctA p.L256L NM_000863.1 NP_000854.1 P28222 5HT1B_HUMAN 5-hydroxytryptamine (serotonin) receptor 1B, G protein-coupled 256 G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cAMP biosynthetic process|synaptic transmission integral to plasma membrane protein binding|serotonin receptor activity NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|prostate(2)|upper_aerodigestive_tract(2) 25 all_cancers(76;0.0867)|Acute lymphoblastic leukemia(125;0.00119)|all_hematologic(105;0.0332) BRCA - Breast invasive adenocarcinoma(397;0.205) Almotriptan(DB00918)|Dexfenfluramine(DB01191)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Naratriptan(DB00952)|Pindolol(DB00960)|Propranolol(DB00571)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Venlafaxine(DB00285)|Zolmitriptan(DB00315) AGTCGGTTATCAGCTGGGCTC 0.602000 56 103 0 0 1 0 0 MED25 81857 broad.mit.edu 37 19 50333391 50333391 + Silent SNP C C G TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:50333391C>G ENST00000312865.6 + 7 788 c.735C>G c.(733-735)gtC>gtG p.V245V MED25_ENST00000538643.1_Intron NM_030973.3 NP_112235.2 Q71SY5 MED25_HUMAN mediator complex subunit 25 245 Pro-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleoplasm NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|stomach(1)|urinary_tract(1) 17 all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728) OV - Ovarian serous cystadenocarcinoma(262;0.00822)|GBM - Glioblastoma multiforme(134;0.0122) AGCAGCCAGTCCCCCTGCCTC 0.657000 65 134 0 0 1 0 0 SCN11A 11280 broad.mit.edu 37 3 38938664 38938664 + Missense_Mutation SNP T T C TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:38938664T>C ENST00000302328.3 - 14 2273 c.2075A>G c.(2074-2076)aAg>aGg p.K692R SCN11A_ENST00000444237.2_Missense_Mutation_p.K692R|SCN11A_ENST00000456224.3_Missense_Mutation_p.K692R|SCN11A_ENST00000450244.1_Missense_Mutation_p.K692R NM_014139.2 NP_054858.2 Q9UI33 SCNBA_HUMAN sodium channel, voltage-gated, type XI, alpha subunit 692 response to drug voltage-gated sodium channel complex voltage-gated sodium channel activity NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3) 119 Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226) Cocaine(DB00907) GCCGATTATCTTAATTAGTGT 0.433000 33 39 0 0 1 0 0 DYNC1I1 1780 broad.mit.edu 37 7 95726824 95726824 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:95726824C>T ENST00000324972.6 + 17 2050 c.1857C>T c.(1855-1857)acC>acT p.T619T DYNC1I1_ENST00000537881.1_Intron|DYNC1I1_ENST00000457059.1_Silent_p.T602T|DYNC1I1_ENST00000447467.2_Silent_p.T602T|DYNC1I1_ENST00000359388.4_Silent_p.T582T|DYNC1I1_ENST00000437599.1_Silent_p.T599T NM_004411.4 NP_004402.1 O14576 DC1I1_HUMAN dynein, cytoplasmic 1, intermediate chain 1 619 vesicle transport along microtubule condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|perinuclear region of cytoplasm|spindle pole|vesicle microtubule binding|microtubule motor activity NS(2)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(27)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 54 all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191) STAD - Stomach adenocarcinoma(171;0.0957) ATGAATGGACCCGATTTGCCA 0.468000 26 87 0 0 1 0 0 ZNF462 58499 broad.mit.edu 37 9 109690504 109690504 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:109690504C>T ENST00000277225.5 + 3 4600 c.4311C>T c.(4309-4311)ttC>ttT p.F1437F ZNF462_ENST00000457913.1_Silent_p.F1437F|ZNF462_ENST00000441147.2_Silent_p.F282F Q96JM2 ZN462_HUMAN zinc finger protein 462 1437 transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 119 CCACCCCTTTCCCGGAGCAGG 0.527000 20 40 0 0 1 0 0 LRCH2 57631 broad.mit.edu 37 X 114422903 114422903 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chrX:114422903G>A ENST00000317135.8 - 2 410 c.380C>T c.(379-381)cCt>cTt p.P127L LRCH2_ENST00000538422.1_Missense_Mutation_p.P127L NM_020871.3 NP_065922.3 Q5VUJ6 LRCH2_HUMAN leucine-rich repeats and calponin homology (CH) domain containing 2 127 breast(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1) 19 GACATCAGAAGGAATTTCTGT 0.294000 7 2 0 0 1 0 0 MYH1 4619 broad.mit.edu 37 17 10408551 10408551 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:10408551C>T ENST00000226207.5 - 21 2458 c.2364G>A c.(2362-2364)ctG>ctA p.L788L CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA NM_005963.3 NP_005954.3 P12882 MYH1_HUMAN myosin, heavy chain 1, skeletal muscle, adult 788 IQ. muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5) 176 TTCGGGTAATCAGCTGGGCCA 0.448000 34 92 0 0 1 0 0 SPATA31D5P 347127 broad.mit.edu 37 9 84531863 84531863 + RNA SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:84531863G>A ENST00000527857.1 + 0 1885 NR_026851.1 ATGAGGCACGGTCTCTTATGC 0.458000 11 25 0 0 1 0 0 NCEH1 57552 broad.mit.edu 37 3 172351543 172351543 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:172351543G>A ENST00000475381.1 - 5 1182 c.949C>T c.(949-951)Cct>Tct p.P317S NCEH1_ENST00000543711.1_Missense_Mutation_p.P184S|NCEH1_ENST00000538775.1_Missense_Mutation_p.P357S|NCEH1_ENST00000273512.3_Missense_Mutation_p.P349S Q6PIU2 NCEH1_HUMAN neutral cholesterol ester hydrolase 1 317 lipid catabolic process endoplasmic reticulum|integral to membrane|microsome carboxylesterase activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(1) 15 AGCAACTGAGGAAGCTCCTGG 0.552000 14 51 0 0 1 0 0 ZNF430 80264 broad.mit.edu 37 19 21240040 21240040 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:21240040G>A ENST00000261560.5 + 5 1107 c.926G>A c.(925-927)aGa>aAa p.R309K NM_001172671.1|NM_025189.3 NP_001166142.1|NP_079465.3 Q9H8G1 ZN430_HUMAN zinc finger protein 430 309 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 23 ACACATAAAAGAATTCATACT 0.398000 50 109 0 0 1 0 0 GPR98 84059 broad.mit.edu 37 5 90086870 90086870 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:90086870G>A ENST00000405460.2 + 70 14320 c.14224G>A c.(14224-14226)Gaa>Aaa p.E4742K GPR98_ENST00000425867.2_Missense_Mutation_p.E403K NM_032119.3 NP_115495.3 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 4742 cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6) 269 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) GGGAGGAGCCGAACTGGATCT 0.438000 23 37 0 0 1 0 0 AIM1 202 broad.mit.edu 37 6 106967508 106967508 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:106967508G>A ENST00000369066.3 + 2 1688 c.1201G>A c.(1201-1203)Gat>Aat p.D401N NM_001624.2 NP_001615.1 Q9Y4K1 AIM1_HUMAN absent in melanoma 1 401 sugar binding breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 69 Breast(9;0.0138)|all_epithelial(6;0.169) all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473) Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305) all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858) TCCTGTCAAGGATCATAAGCT 0.473000 19 149 0 0 1 0 0 CNGB1 1258 broad.mit.edu 37 16 57949178 57949178 + Missense_Mutation SNP A A T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr16:57949178A>T ENST00000564448.1 - 23 2321 c.2261T>A c.(2260-2262)cTc>cAc p.L754H CNGB1_ENST00000251102.8_Missense_Mutation_p.L760H Q14028 CNGB1_HUMAN cyclic nucleotide gated channel beta 1 760 sensory perception of smell intracellular cyclic nucleotide activated cation channel complex cAMP binding|intracellular cAMP activated cation channel activity breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 54 CAGGCGGAGGAGGGGGTTCAC 0.577000 16 21 0 0 1 0 0 AKAP3 10566 broad.mit.edu 37 12 4737404 4737404 + Missense_Mutation SNP C C T rs71579261 byFrequency TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:4737404C>T ENST00000545990.2 - 5 1188 c.664G>A c.(664-666)Gag>Aag p.E222K AKAP3_ENST00000228850.1_Missense_Mutation_p.E222K NM_001278309.1 NP_001265238.1 O75969 AKAP3_HUMAN A kinase (PRKA) anchor protein 3 222 acrosome reaction|cellular component movement acrosomal vesicle protein kinase A binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|liver(1)|lung(17)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1) 51 TTGGTGCTCTCCTTGATCTTC 0.458000 5 180 0 0 1 0 0 CCDC114 93233 broad.mit.edu 37 19 48805954 48805954 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:48805954C>T ENST00000315396.7 - 10 1808 c.1126G>A c.(1126-1128)Gct>Act p.A376T NM_144577.3 NP_653178.3 Q96M63 CC114_HUMAN coiled-coil domain containing 114 376 cervix(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1) 24 all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000162)|Epithelial(262;0.0134)|GBM - Glioblastoma multiforme(486;0.0143) TGCTCACCAGCCTTGAGCTTC 0.647000 44 71 0 0 1 0 0 UBD 10537 broad.mit.edu 37 6 29524025 29524025 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:29524025G>A ENST00000377050.4 - 2 353 c.130C>T c.(130-132)Cct>Tct p.P44S GABBR1_ENST00000355973.3_3'UTR NM_006398.3 NP_006389.2 O15205 UBD_HUMAN ubiquitin D 44 Ubiquitin 1. aggresome assembly|myeloid dendritic cell differentiation|negative regulation of mitotic prometaphase|positive regulation of apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein ubiquitination|response to interferon-gamma|response to tumor necrosis factor|ubiquitin-dependent protein catabolic process aggresome|cytoplasm|nucleus proteasome binding p.P44S(1) kidney(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1) 6 TCCTGCACAGGAACCTTGGTC 0.468000 46 66 0 0 1 0 0 TARS2 80222 broad.mit.edu 37 1 150468969 150468969 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:150468969C>T ENST00000369064.3 + 8 820 c.786C>T c.(784-786)tcC>tcT p.S262S TARS2_ENST00000606933.1_Intron|TARS2_ENST00000463555.1_Intron|TARS2_ENST00000369054.2_Intron|TARS2_ENST00000438568.2_3'UTR NM_025150.3 NP_079426.2 Q9BW92 SYTM_HUMAN threonyl-tRNA synthetase 2, mitochondrial (putative) 262 threonyl-tRNA aminoacylation mitochondrial matrix ATP binding|threonine-tRNA ligase activity cervix(1)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1) 35 all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171) UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.51e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206) L-Threonine(DB00156) ACTCATCATCCTTATGGAGGT 0.502000 7 229 0 0 1 0 0 PRG4 10216 broad.mit.edu 37 1 186270755 186270755 + Silent SNP C C A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:186270755C>A ENST00000445192.2 + 4 276 c.231C>A c.(229-231)tcC>tcA p.S77S PRG4_ENST00000367484.3_Silent_p.S36S|PRG4_ENST00000367483.4_Silent_p.S36S|PRG4_ENST00000367485.4_Silent_p.S77S|PRG4_ENST00000367486.3_Silent_p.S77S NM_005807.3 NP_005798.2 Q92954 PRG4_HUMAN proteoglycan 4 77 SMB 2. cell proliferation|immune response extracellular region polysaccharide binding|protein binding|scavenger receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1) 102 GCTTTGAGTCCTTCGAGAGAG 0.478000 38 68 6.19805e-25 6.26776e-25 1 1 0 SYCP2L 221711 broad.mit.edu 37 6 10891775 10891775 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:10891775G>A ENST00000283141.6 + 2 335 c.39G>A c.(37-39)aaG>aaA p.K13K SYCP2L_ENST00000543878.1_5'UTR|RP11-637O19.3_ENST00000480294.1_3'UTR NM_001040274.2 NP_001035364.2 Q5T4T6 SYC2L_HUMAN synaptonemal complex protein 2-like 13 nucleus breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1) 36 Breast(50;0.0838)|Ovarian(93;0.107) all_hematologic(90;0.135) Epithelial(50;0.239) AGCCTATTAAGGAAGACAGGA 0.353000 29 126 0 0 1 0 0 ADCY8 114 broad.mit.edu 37 8 131880102 131880102 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:131880102G>A ENST00000286355.5 - 9 4292 c.2200C>T c.(2200-2202)Cct>Tct p.P734S ADCY8_ENST00000377928.3_Intron NM_001115.2 NP_001106.1 P40145 ADCY8_HUMAN adenylate cyclase 8 (brain) 734 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|membrane fraction|plasma membrane ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding p.P734S(1) NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2) 134 Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000538) CTTGAAGAAGGAAGCAAACTT 0.353000 HNSCC(32;0.087) 36 53 0 0 1 0 0 ZSCAN10 84891 broad.mit.edu 37 16 3139818 3139818 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr16:3139818G>A ENST00000252463.2 - 5 1539 c.1452C>T c.(1450-1452)gcC>gcT p.A484A ZSCAN10_ENST00000575108.1_Silent_p.A145A|ZSCAN10_ENST00000538082.2_Silent_p.A402A NM_032805.1 NP_116194.1 Q96SZ4 ZSC10_HUMAN zinc finger and SCAN domain containing 10 484 negative regulation of transcription, DNA-dependent|viral reproduction nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|cervix(3)|endometrium(3)|kidney(1)|lung(8)|ovary(2)|prostate(1)|skin(4)|urinary_tract(1) 24 CCCTCCGGTGGGCCACCAGGT 0.726000 12 9 0 0 1 0 0 SKIV2L 6499 broad.mit.edu 37 6 31931203 31931203 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:31931203C>T ENST00000375394.2 + 14 1530 c.1417C>T c.(1417-1419)Cgt>Tgt p.R473C SKIV2L_ENST00000544581.1_Missense_Mutation_p.R280C NM_006929.4 NP_008860.4 Q15477 SKIV2_HUMAN superkiller viralicidic activity 2-like (S. cerevisiae) 473 Helicase ATP-binding. nucleus ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding breast(1)|central_nervous_system(1)|large_intestine(1)|ovary(1) 4 GCTGAAGCGTCGTCAGATCTA 0.567000 41 116 0 0 1 0 0 FAM13B 51306 broad.mit.edu 37 5 137323990 137323990 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:137323990G>A ENST00000033079.3 - 8 1314 c.863C>T c.(862-864)cCc>cTc p.P288L FAM13B_ENST00000425075.2_Missense_Mutation_p.P170L|FAM13B_ENST00000420893.2_Missense_Mutation_p.P288L NM_016603.2 NP_057687.2 Q9NYF5 FA13B_HUMAN family with sequence similarity 13, member B 288 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity endometrium(4)|kidney(2)|lung(5) 11 GATGCTGATGGGAGATATATG 0.299000 47 89 0 0 1 0 0 PRR5L 79899 broad.mit.edu 37 11 36484077 36484077 + Nonsense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:36484077C>T ENST00000378867.3 + 10 1253 c.898C>T c.(898-900)Cag>Tag p.Q300* PRR5L_ENST00000389693.3_3'UTR|PRR5L_ENST00000311599.5_Nonsense_Mutation_p.Q227*|PRR5L_ENST00000530639.1_Nonsense_Mutation_p.Q300* NM_024841.4 NP_079117.3 Q6MZQ0 PRR5L_HUMAN proline rich 5 like 300 breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(7)|ovary(1) 19 CTCGGACATCCAGCTGCTGGC 0.662000 26 43 0 0 1 0 0 TNC 3371 broad.mit.edu 37 9 117793847 117793847 + Missense_Mutation SNP T T C TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:117793847T>C ENST00000350763.4 - 23 6316 c.5905A>G c.(5905-5907)Acc>Gcc p.T1969A TNC_ENST00000542877.1_Missense_Mutation_p.T1606A|TNC_ENST00000537320.1_Missense_Mutation_p.T1332A|TNC_ENST00000341037.4_Missense_Mutation_p.T1787A|TNC_ENST00000345230.3_Missense_Mutation_p.T1332A|TNC_ENST00000423613.2_Missense_Mutation_p.T1696A|TNC_ENST00000535648.1_Missense_Mutation_p.T1514A|TNC_ENST00000340094.3_Missense_Mutation_p.T1605A|TNC_ENST00000346706.3_Missense_Mutation_p.T1423A NM_002160.3 NP_002151.2 P24821 TENA_HUMAN tenascin C 1969 Fibronectin type-III 15. cell adhesion|response to wounding|signal transduction extracellular space receptor binding|syndecan binding NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 120 GTGAAGATGGTCTGGATCATA 0.517000 48 62 0 0 1 0 0 CRTAP 10491 broad.mit.edu 37 3 33165994 33165994 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:33165994C>T ENST00000320954.6 + 3 815 c.716C>T c.(715-717)gCc>gTc p.A239V CRTAP_ENST00000449224.1_Missense_Mutation_p.A239V|CRTAP_ENST00000485310.1_3'UTR NM_006371.4 NP_006362.1 O75718 CRTAP_HUMAN cartilage associated protein 239 proteinaceous extracellular matrix binding breast(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 9 TTCTTCAAAGCCTTTTACGAG 0.522000 34 105 0 0 1 0 0 PTPRF 5792 broad.mit.edu 37 1 44064476 44064476 + Missense_Mutation SNP C C A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:44064476C>A ENST00000359947.4 + 13 2545 c.2205C>A c.(2203-2205)agC>agA p.S735R PTPRF_ENST00000372413.3_Missense_Mutation_p.S735R|PTPRF_ENST00000372414.3_Missense_Mutation_p.S735R|PTPRF_ENST00000438120.1_Missense_Mutation_p.S735R|PTPRF_ENST00000422171.2_Missense_Mutation_p.S92R|PTPRF_ENST00000496447.1_3'UTR NM_002840.3 NP_002831.2 P10586 PTPRF_HUMAN protein tyrosine phosphatase, receptor type, F 735 Fibronectin type-III 5. transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane transmembrane receptor protein tyrosine phosphatase activity NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3) 72 all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0333) CTGTCCCCAGCAAGCAGCATG 0.642000 39 80 1.07637e-12 1.08428e-12 1 1 0 MACROD2 140733 broad.mit.edu 37 20 15918183 15918183 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr20:15918183G>A ENST00000217246.4 + 12 1296 c.901G>A c.(901-903)Gat>Aat p.D301N MACROD2_ENST00000378058.3_Missense_Mutation_p.D66N|MACROD2_ENST00000310348.4_Missense_Mutation_p.D301N|MACROD2_ENST00000402914.1_Missense_Mutation_p.D66N NM_080676.5 NP_542407.2 A1Z1Q3 MACD2_HUMAN MACRO domain containing 2 301 Glu-rich. breast(2)|kidney(4)|large_intestine(5)|lung(8)|skin(1) 20 all_neural(2;0.0381)|Acute lymphoblastic leukemia(2;0.175) AGACTGTAAAGATGAAGGTAT 0.408000 54 102 0 0 1 0 0 ZNF91 7644 broad.mit.edu 37 19 23542567 23542567 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:23542567G>A ENST00000300619.7 - 4 3419 c.3214C>T c.(3214-3216)Cat>Tat p.H1072Y ZNF91_ENST00000599743.1_Intron|ZNF91_ENST00000397082.2_Missense_Mutation_p.H1040Y NM_003430.2 NP_003421.2 Q05481 ZNF91_HUMAN zinc finger protein 91 1072 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611) TCTCTAGTATGAATTCTCTTA 0.383000 47 69 0 0 1 0 0 SEMA3C 10512 broad.mit.edu 37 7 80458062 80458062 + Splice_Site SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:80458062C>T ENST00000265361.3 - 3 665 c.e3-1 SEMA3C_ENST00000419255.2_Splice_Site|SEMA3C_ENST00000544525.1_Splice_Site|SEMA3C_ENST00000536800.1_Intron NM_006379.3 NP_006370.1 Q99985 SEM3C_HUMAN sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C immune response|response to drug membrane receptor activity NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 34 TCTCGAAGTTCTGAAAGAGTG 0.343000 5 142 0 0 1 0 0 NLRP8 126205 broad.mit.edu 37 19 56485051 56485051 + Missense_Mutation SNP T T G TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:56485051T>G ENST00000291971.3 + 7 2639 c.2568T>G c.(2566-2568)tgT>tgG p.C856W NLRP8_ENST00000590542.1_Intron NM_176811.2 NP_789781.2 Q86W28 NALP8_HUMAN NLR family, pyrin domain containing 8 856 cytoplasm ATP binding breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2) 35 Colorectal(82;0.000147)|Ovarian(87;0.17) GBM - Glioblastoma multiforme(193;0.0695) AGCTTACTTGTGAAAGCCTTG 0.488000 126 272 0 0 1 0 0 XIRP2 129446 broad.mit.edu 37 2 168100145 168100145 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:168100145C>T ENST00000409195.1 + 9 2332 c.2243C>T c.(2242-2244)tCg>tTg p.S748L XIRP2_ENST00000295237.9_Missense_Mutation_p.S748L|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.S526L NM_152381.5 NP_689594.4 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 573 actin cytoskeleton organization cell junction actin binding p.S748L(1) NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7) 315 AGAGATGGTTCGGGCCAAATG 0.383000 23 49 0 0 1 0 0 FLNC 2318 broad.mit.edu 37 7 128489587 128489587 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:128489587C>T ENST00000325888.8 + 30 5415 c.5154C>T c.(5152-5154)atC>atT p.I1718I FLNC_ENST00000346177.6_Silent_p.I1718I NM_001458.4 NP_001449.3 Q14315 FLNC_HUMAN filamin C, gamma 1718 cell junction assembly cytoskeleton|cytosol|plasma membrane|sarcomere actin binding biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2) 128 TCATCACCATCCGCTTCGGGG 0.597000 34 120 0 0 1 0 0 EPHA5 2044 broad.mit.edu 37 4 66201686 66201686 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:66201686G>A ENST00000273854.3 - 16 3416 c.2816C>T c.(2815-2817)cCa>cTa p.P939L EPHA5_ENST00000432638.2_Missense_Mutation_p.P776L|EPHA5_ENST00000354839.4_Missense_Mutation_p.P917L|EPHA5_ENST00000511294.1_Missense_Mutation_p.P940L NM_004439.5 NP_004430.4 P54756 EPHA5_HUMAN EPH receptor A5 939 cAMP-mediated signaling|neuron development dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum ATP binding|transmembrane-ephrin receptor activity autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 142 CAGACTACTTGGGTTACGTAT 0.433000 TSP Lung(17;0.13) 47 74 0 0 1 0 0 PEX5L 51555 broad.mit.edu 37 3 179526215 179526215 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:179526215C>T ENST00000467460.1 - 13 1693 c.1363G>A c.(1363-1365)Gaa>Aaa p.E455K PEX5L_ENST00000464614.1_Missense_Mutation_p.E347K|PEX5L_ENST00000392649.3_Missense_Mutation_p.E347K|PEX5L_ENST00000467440.2_5'UTR|PEX5L_ENST00000465751.1_Missense_Mutation_p.E431K|PEX5L_ENST00000468741.1_Missense_Mutation_p.E263K|PEX5L_ENST00000476138.1_Missense_Mutation_p.E412K|PEX5L_ENST00000263962.8_Missense_Mutation_p.E453K|PEX5L_ENST00000485199.1_Missense_Mutation_p.E420K|PEX5L_ENST00000472994.1_Missense_Mutation_p.E396K NM_001256751.1|NM_016559.2 NP_001243680.1|NP_057643.1 Q8IYB4 PEX5R_HUMAN peroxisomal biogenesis factor 5-like 455 protein import into peroxisome matrix|regulation of cAMP-mediated signaling cytosol|peroxisomal membrane peroxisome matrix targeting signal-1 binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 49 all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183) OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518) TTCACCCCTTCCAGAACAGAG 0.403000 12 107 0 0 1 0 0 GAP43 2596 broad.mit.edu 37 3 115395319 115395319 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:115395319G>A ENST00000393780.3 + 3 1066 c.598G>A c.(598-600)Gag>Aag p.E200K GAP43_ENST00000305124.6_Missense_Mutation_p.E164K NM_001130064.1 NP_001123536.1 P17677 NEUM_HUMAN growth associated protein 43 164 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell differentiation|nervous system development|regulation of filopodium assembly|regulation of growth|response to wounding cell junction|filopodium membrane|growth cone membrane|synapse calmodulin binding endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 32 GBM - Glioblastoma multiforme(114;0.164) AGCCAAGGAGGAGCCTAAACA 0.602000 21 49 0 0 1 0 0 FAT4 79633 broad.mit.edu 37 4 126239839 126239839 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:126239839C>T ENST00000394329.3 + 1 2286 c.2273C>T c.(2272-2274)gCt>gTt p.A758V NM_024582.4 NP_078858.4 Q6V0I7 FAT4_HUMAN FAT atypical cadherin 4 758 Cadherin 7. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6) 355 GAAAAAACAGCTTATCAGTTG 0.433000 32 72 0 0 1 0 0 TGM5 9333 broad.mit.edu 37 15 43552718 43552718 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr15:43552718C>T ENST00000220420.5 - 2 77 c.70G>A c.(70-72)Gag>Aag p.E24K TGM5_ENST00000349114.4_Missense_Mutation_p.E24K NM_201631.3 NP_963925.2 O43548 TGM5_HUMAN transglutaminase 5 24 epidermis development|peptide cross-linking cytoplasm acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(11)|lung(15)|skin(6)|urinary_tract(1) 44 all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216) GBM - Glioblastoma multiforme(94;4e-07) L-Glutamine(DB00130) GTGATCTCCTCCGTGTGGTGC 0.582000 58 125 0 0 1 0 0 BTBD7 55727 broad.mit.edu 37 14 93712332 93712332 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr14:93712332G>A ENST00000334746.5 - 10 2729 c.2422C>T c.(2422-2424)Cct>Tct p.P808S BTBD7_ENST00000554565.1_Missense_Mutation_p.P457S|BTBD7_ENST00000393170.2_Missense_Mutation_p.P382S NM_001002860.2 NP_001002860.2 Q9P203 BTBD7_HUMAN BTB (POZ) domain containing 7 808 Pro-rich. breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(8)|upper_aerodigestive_tract(1) 35 all_cancers(154;0.08) Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223) CCAGCTTTAGGAGCTGTTCTG 0.552000 35 56 0 0 1 0 0 MAL2 114569 broad.mit.edu 37 8 120233890 120233890 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:120233890G>A ENST00000276681.6 + 3 298 c.196G>A c.(196-198)Gga>Aga p.G66R RP11-4K16.2_ENST00000522828.1_lincRNA|MAL2_ENST00000521748.1_3'UTR NM_052886.2 NP_443118.1 Q969L2 MAL2_HUMAN mal, T-cell differentiation protein 2 (gene/pseudogene) 66 MARVEL. apical plasma membrane|endomembrane system|integral to membrane|perinuclear region of cytoplasm protein binding all_cancers(13;1.91e-26)|Lung NSC(37;8.61e-08)|Ovarian(258;0.018)|Hepatocellular(40;0.161) STAD - Stomach adenocarcinoma(47;0.000967) TCTACTACAAGGATGGGTCAT 0.458000 119 251 0 0 1 0 0 TLR4 7099 broad.mit.edu 37 9 120476210 120476210 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:120476210G>A ENST00000355622.6 + 3 1905 c.1804G>A c.(1804-1806)Gtg>Atg p.V602M TLR4_ENST00000472304.1_3'UTR|TLR4_ENST00000394487.4_Missense_Mutation_p.V562M NM_138554.4|NM_138557.2 NP_612564.1|NP_612567.1 O00206 TLR4_HUMAN toll-like receptor 4 602 LRRCT. activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm lipopolysaccharide receptor activity|transmembrane receptor activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1) 103 GCAGCTCTTGGTGGAAGTTGA 0.433000 21 41 0 0 1 0 0 C1orf168 199920 broad.mit.edu 37 1 57202809 57202809 + Nonsense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:57202809G>A ENST00000343433.6 - 15 1824 c.1744C>T c.(1744-1746)Cag>Tag p.Q582* C1orf168_ENST00000484327.1_5'UTR NM_001004303.4 NP_001004303.3 Q5VWT5 CA168_HUMAN chromosome 1 open reading frame 168 582 NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2) 46 ATAACTTCCTGAGACTTAAGT 0.323000 25 46 0 0 1 0 0 HLA-DRA 3122 broad.mit.edu 37 6 32410427 32410427 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:32410427G>A ENST00000395388.2 + 2 394 c.285G>A c.(283-285)ctG>ctA p.L95L HLA-DRA_ENST00000374982.5_Silent_p.L95L NM_019111.4 NP_061984.2 P01903 DRA_HUMAN major histocompatibility complex, class II, DR alpha 95 Alpha-1. antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway endoplasmic reticulum membrane|Golgi apparatus|integral to plasma membrane|late endosome membrane|lysosomal membrane|MHC class II protein complex MHC class II receptor activity NS(1)|breast(1)|large_intestine(6)|lung(5)|ovary(1)|skin(4)|upper_aerodigestive_tract(1) 19 AAGCCAACCTGGAAATCATGA 0.493000 T-cell Lymphoma, (Cutaneous) , Familial Clustering of;Kaposi Sarcoma, Familial Clustering of 8 286 0 0 1 0 0 PCDHGA2 56113 broad.mit.edu 37 5 140720094 140720094 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:140720094C>T ENST00000394576.2 + 1 1556 c.1556C>T c.(1555-1557)tCc>tTc p.S519F PCDHGA1_ENST00000517417.1_Intron NM_018915.2 NP_061738.1 breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 77 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCACTGCGCTCCTTTGATTAT 0.507000 57 137 0 0 1 0 0 GRPR 2925 broad.mit.edu 37 X 16168694 16168694 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chrX:16168694C>T ENST00000380289.2 + 2 1078 c.680C>T c.(679-681)tCt>tTt p.S227F NM_005314.2 NP_005305.1 P30550 GRPR_HUMAN gastrin-releasing peptide receptor 227 cell proliferation integral to plasma membrane bombesin receptor activity central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(3)|stomach(1)|upper_aerodigestive_tract(3) 25 Hepatocellular(33;0.183) TCGATCATCTCTGTTTACTAC 0.438000 95 33 0 0 1 0 0 LPHN2 23266 broad.mit.edu 37 1 82408887 82408887 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:82408887G>A ENST00000370728.1 + 8 1277 c.632G>A c.(631-633)gGa>gAa p.G211E LPHN2_ENST00000335786.5_Missense_Mutation_p.G211E|LPHN2_ENST00000271029.4_Missense_Mutation_p.G211E|LPHN2_ENST00000394879.1_Missense_Mutation_p.G211E|LPHN2_ENST00000370713.1_Missense_Mutation_p.G211E|LPHN2_ENST00000370717.2_Missense_Mutation_p.G211E|LPHN2_ENST00000370730.1_Missense_Mutation_p.G211E|LPHN2_ENST00000370723.1_Missense_Mutation_p.G211E|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000370727.1_Missense_Mutation_p.G211E|LPHN2_ENST00000370715.1_Missense_Mutation_p.G211E|LPHN2_ENST00000370725.1_Missense_Mutation_p.G211E|LPHN2_ENST00000359929.3_Missense_Mutation_p.G211E|LPHN2_ENST00000370721.1_Missense_Mutation_p.G215E|LPHN2_ENST00000319517.6_Missense_Mutation_p.G211E O95490 LPHN2_HUMAN latrophilin 2 211 Olfactomedin-like. neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 119 all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248) GATGGTACTGGATTTGTGGTG 0.358000 34 71 0 0 1 0 0 ITGA8 8516 broad.mit.edu 37 10 15686085 15686085 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:15686085G>A ENST00000378076.3 - 13 1696 c.1343C>T c.(1342-1344)tCc>tTc p.S448F NM_003638.1 NP_003629.1 P53708 ITA8_HUMAN integrin, alpha 8 448 cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development integrin complex receptor activity NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 96 GCCAAATCCGGAAGGGACAGC 0.443000 23 60 0 0 1 0 0 ENPP7 339221 broad.mit.edu 37 17 77707376 77707376 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:77707376C>T ENST00000328313.5 + 2 545 c.324C>T c.(322-324)ccC>ccT p.P108P NM_178543.3 NP_848638.2 Q6UWV6 ENPP7_HUMAN ectonucleotide pyrophosphatase/phosphodiesterase 7 108 negative regulation of cell proliferation|negative regulation of DNA replication|sphingomyelin metabolic process Golgi apparatus|integral to membrane|microvillus sphingomyelin phosphodiesterase activity breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(6)|skin(3) 34 OV - Ovarian serous cystadenocarcinoma(97;0.016)|BRCA - Breast invasive adenocarcinoma(99;0.0224) TGAAGCTGCCCTACCACGCCA 0.597000 57 147 0 0 1 0 0 RNF32 140545 broad.mit.edu 37 7 156451265 156451265 + Splice_Site SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:156451265G>A ENST00000392741.2 + 6 772 c.e6+1 RNF32_ENST00000343665.4_Splice_Site|RNF32_ENST00000317955.5_Splice_Site|RNF32_ENST00000392743.2_Splice_Site|RNF32_ENST00000405335.1_Splice_Site|RNF32_ENST00000311822.8_Splice_Site|RNF32_ENST00000480011.1_3'UTR|RNF32_ENST00000432459.2_Splice_Site Q9H0A6 RNF32_HUMAN ring finger protein 32 aggresome|endosome protein binding|zinc ion binding cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(2) 15 Ovarian(565;0.218) all_hematologic(28;0.0592) OV - Ovarian serous cystadenocarcinoma(82;0.00291) UCEC - Uterine corpus endometrioid carcinoma (81;0.169) TGAAAAAAAGGTAGGTAAAGA 0.418000 24 49 0 0 1 0 0 RIMS2 9699 broad.mit.edu 37 8 104955100 104955100 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:104955100C>T ENST00000507740.1 + 11 2259 c.2023C>T c.(2023-2025)Cca>Tca p.P675S RIMS2_ENST00000262231.10_Missense_Mutation_p.P722S|RIMS2_ENST00000406091.3_Missense_Mutation_p.P883S|RIMS2_ENST00000436393.2_Missense_Mutation_p.P661S NM_014677.4 NP_055492.3 Q9UQ26 RIMS2_HUMAN regulating synaptic membrane exocytosis 2 945 PDZ. intracellular protein transport cell junction|presynaptic membrane metal ion binding|Rab GTPase binding NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1) 144 OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229) CCACCCTTCTCCATATATGCC 0.378000 HNSCC(12;0.0054) 31 59 0 0 1 0 0 OR5D14 219436 broad.mit.edu 37 11 55563224 55563224 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:55563224C>T ENST00000335605.1 + 1 193 c.193C>T c.(193-195)Ctt>Ttt p.L65F NM_001004735.1 NP_001004735.1 Q8NGL3 OR5DE_HUMAN olfactory receptor, family 5, subfamily D, member 14 65 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(30)|ovary(2)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1) 48 all_epithelial(135;0.196) GTACTTTTTCCTTAGTCACCT 0.373000 56 97 0 0 1 0 0 VPS16 64601 broad.mit.edu 37 20 2844864 2844864 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr20:2844864C>T ENST00000380445.3 + 17 1723 c.1651C>T c.(1651-1653)Ctt>Ttt p.L551F VPS16_ENST00000380443.3_Missense_Mutation_p.L237F|PTPRA_ENST00000380393.3_5'UTR|VPS16_ENST00000380469.3_Missense_Mutation_p.L407F|VPS16_ENST00000481812.2_3'UTR NM_022575.2 NP_072097.2 Q9H269 VPS16_HUMAN vacuolar protein sorting 16 homolog (S. cerevisiae) 551 intracellular protein transport early endosome|HOPS complex|late endosome membrane|lysosomal membrane|recycling endosome NS(3)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1) 37 GCAGGTACCCCTTCTCCTAAA 0.607000 24 99 0 0 1 0 0 PLB1 151056 broad.mit.edu 37 2 28764663 28764663 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:28764663C>T ENST00000422425.2 + 13 941 c.897C>T c.(895-897)acC>acT p.T299T PLB1_ENST00000327757.5_Silent_p.T288T NM_001170585.1 NP_001164056.1 Q6P1J6 PLB1_HUMAN phospholipase B1 288 4 X 308-326 AA approximate repeats. lipid catabolic process|retinoid metabolic process|steroid metabolic process apical plasma membrane|integral to membrane lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2) 69 Acute lymphoblastic leukemia(172;0.155) ATGAGACCACCCCATCTCTAC 0.587000 17 51 0 0 1 0 0 UBIAD1 29914 broad.mit.edu 37 1 11345812 11345812 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:11345812C>T ENST00000376810.5 + 2 967 c.641C>T c.(640-642)cCa>cTa p.P214L UBIAD1_ENST00000376804.2_Intron NM_013319.2 NP_037451.1 Q9Y5Z9 UBIA1_HUMAN UbiA prenyltransferase domain containing 1 214 menaquinone biosynthetic process endoplasmic reticulum membrane|integral to membrane|mitochondrion|nucleus prenyltransferase activity endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(3) 12 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.000818)|all_lung(284;0.00105)|Colorectal(325;0.0062)|Breast(348;0.012)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.52e-06)|COAD - Colon adenocarcinoma(227;0.000254)|BRCA - Breast invasive adenocarcinoma(304;0.000299)|Kidney(185;0.000754)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0487) GCCATCTTCCCACTGGTCTAT 0.602000 56 109 0 0 1 0 0 ZFPM2 23414 broad.mit.edu 37 8 106814118 106814118 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:106814118C>T ENST00000407775.2 + 8 2058 c.1808C>T c.(1807-1809)tCc>tTc p.S603F ZFPM2_ENST00000520492.1_Missense_Mutation_p.S471F|RP11-152P17.2_ENST00000524045.2_RNA|RP11-152P17.2_ENST00000520594.1_RNA|ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000518932.1_RNA|ZFPM2_ENST00000378472.4_Missense_Mutation_p.S334F|RP11-152P17.2_ENST00000521622.1_RNA|ZFPM2_ENST00000517361.1_Missense_Mutation_p.S471F|RP11-152P17.2_ENST00000509144.2_RNA|RP11-152P17.2_ENST00000520433.1_RNA NM_012082.3 NP_036214.2 Q8WW38 FOG2_HUMAN zinc finger protein, FOG family member 2 603 blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis nucleoplasm DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 99 OV - Ovarian serous cystadenocarcinoma(57;8.28e-08) GGCCAAACCTCCATAAACCTT 0.468000 15 170 0 0 1 0 0 C2orf54 79919 broad.mit.edu 37 2 241829548 241829548 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:241829548C>T ENST00000307486.8 - 3 419 c.321G>A c.(319-321)agG>agA p.R107R C2orf54_ENST00000388934.4_Silent_p.R256R|C2orf54_ENST00000402775.2_Silent_p.R88R Q08AI8 CB054_HUMAN chromosome 2 open reading frame 54 256 haematopoietic_and_lymphoid_tissue(1)|lung(4)|prostate(1) 6 all_epithelial(40;3.99e-16)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15) CCCCCAGCAGCCTCGTGAGCA 0.682000 28 69 0 0 1 0 0 ZNF335 63925 broad.mit.edu 37 20 44582526 44582526 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr20:44582526G>A ENST00000322927.2 - 18 2604 c.2504C>T c.(2503-2505)tCc>tTc p.S835F ZNF335_ENST00000426788.1_Missense_Mutation_p.S680F NM_022095.3 NP_071378.1 Q9H4Z2 ZN335_HUMAN zinc finger protein 335 835 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(13)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 51 Myeloproliferative disorder(115;0.0122) ACCTTCAGGGGAGGGCTGCCC 0.672000 7 30 0 0 1 0 0 UBE2O 63893 broad.mit.edu 37 17 74394402 74394402 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:74394402G>A ENST00000319380.7 - 12 2023 c.1959C>T c.(1957-1959)ttC>ttT p.F653F UBE2O_ENST00000587581.1_5'UTR NM_022066.3 NP_071349.3 Q9C0C9 UBE2O_HUMAN ubiquitin-conjugating enzyme E2O 653 ATP binding|ubiquitin-protein ligase activity breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 36 CAGTTGTACGGAACCTAAAGT 0.512000 OREG0024751 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 26 629 0 0 1 0 0 FMO5 2330 broad.mit.edu 37 1 146680558 146680558 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:146680558C>T ENST00000254090.4 - 6 1074 c.686G>A c.(685-687)gGa>gAa p.G229E FMO5_ENST00000441068.2_Missense_Mutation_p.G229E|RP11-337C18.8_ENST00000607149.1_RNA|FMO5_ENST00000465173.1_5'UTR|FMO5_ENST00000369272.3_Missense_Mutation_p.G229E NM_001461.2 NP_001452.2 P49326 FMO5_HUMAN flavin containing monooxygenase 5 229 integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(9)|ovary(3)|upper_aerodigestive_tract(1) 25 all_hematologic(923;0.0487) AGCAGGATATCCGTAGTCCCC 0.418000 27 87 0 0 1 0 0 VAX2 25806 broad.mit.edu 37 2 71148277 71148277 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:71148277G>A ENST00000234392.2 + 2 329 c.297G>A c.(295-297)ctG>ctA p.L99L NM_012476.2 NP_036608.1 Q9UIW0 VAX2_HUMAN ventral anterior homeobox 2 99 ectoderm development|visual perception nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(2)|skin(1) 7 GCCTGGACCTGGACCGGCCCA 0.582000 39 40 0 0 1 0 0 PLA2G5 5322 broad.mit.edu 37 1 20416366 20416366 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:20416366C>T ENST00000375108.3 + 4 538 c.270C>T c.(268-270)ttC>ttT p.F90F PLA2G5_ENST00000486277.1_3'UTR NM_000929.2 NP_000920.1 P39877 PA2G5_HUMAN phospholipase A2, group V 90 lipid catabolic process extracellular region calcium ion binding|calcium-dependent phospholipase A2 activity NS(1)|large_intestine(1)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 14 Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000249)|Lung NSC(340;0.000287)|Breast(348;0.000812)|Ovarian(437;0.00328)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.22e-05)|BRCA - Breast invasive adenocarcinoma(304;8.15e-05)|Kidney(64;0.000184)|GBM - Glioblastoma multiforme(114;0.00089)|KIRC - Kidney renal clear cell carcinoma(64;0.0027)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0652) AATACAGATTCGCGTGGGGCG 0.587000 11 35 0 0 1 0 0 ANKRD10 55608 broad.mit.edu 37 13 111532224 111532224 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr13:111532224G>A ENST00000267339.2 - 6 1157 c.1023C>T c.(1021-1023)aaC>aaT p.N341N ANKRD10_ENST00000375758.5_3'UTR NM_017664.2 NP_060134.2 Q9NXR5 ANR10_HUMAN ankyrin repeat domain 10 341 central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(3) 9 all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148) all cancers(43;0.0882)|BRCA - Breast invasive adenocarcinoma(86;0.188)|Lung(89;0.208) ACAACTCAGGGTTAGCTCTCA 0.542000 7 104 0 0 1 0 0 NDST3 9348 broad.mit.edu 37 4 119161816 119161816 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:119161816C>T ENST00000296499.5 + 11 2659 c.2256C>T c.(2254-2256)atC>atT p.I752I NM_004784.2 NP_004775.1 O95803 NDST3_HUMAN N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3 752 Heparan sulfate N-sulfotransferase 3. Golgi membrane|integral to membrane [heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity NS(1)|breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 54 CCAGCCACATCGAGAGATGGC 0.473000 36 49 0 0 1 0 0 APOL4 80832 broad.mit.edu 37 22 36587600 36587600 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr22:36587600C>T ENST00000332987.1 - 7 989 c.567G>A c.(565-567)gaG>gaA p.E189E APOL4_ENST00000352371.1_Silent_p.E192E|APOL4_ENST00000405511.1_3'UTR|APOL4_ENST00000404685.3_3'UTR|APOL4_ENST00000429038.2_3'UTR|APOL4_ENST00000479929.1_5'UTR Q9BPW4 APOL4_HUMAN apolipoprotein L, 4 193 lipid metabolic process|lipid transport|lipoprotein metabolic process extracellular region lipid binding lung(1) 1 TGTATGTGTTCTCCACGATGC 0.557000 21 39 0 0 1 0 0 ZBBX 79740 broad.mit.edu 37 3 166960377 166960377 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:166960377C>T ENST00000392766.2 - 20 2532 c.2192G>A c.(2191-2193)aGc>aAc p.S731N ZBBX_ENST00000392764.1_Missense_Mutation_p.S702N|ZBBX_ENST00000307529.5_Missense_Mutation_p.S770N|ZBBX_ENST00000455345.2_Missense_Mutation_p.S770N|ZBBX_ENST00000392767.2_Missense_Mutation_p.S731N NM_001199201.1|NM_024687.3 NP_001186130.1|NP_078963.2 A8MT70 ZBBX_HUMAN zinc finger, B-box domain containing 731 intracellular zinc ion binding NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1) 70 CAGTGATTGGCTGCTGAAATC 0.378000 21 57 0 0 1 0 0 CDH23 64072 broad.mit.edu 37 10 73453908 73453908 + Silent SNP A A G TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:73453908A>G ENST00000224721.6 + 20 2201 c.2196A>G c.(2194-2196)gaA>gaG p.E732E CDH23_ENST00000299366.7_Silent_p.E772E NM_022124.5 NP_071407.4 Q9H251 CAD23_HUMAN cadherin-related 23 727 Cadherin 7. calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound cytosol|integral to membrane|plasma membrane|stereocilium calcium ion binding|protein binding NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3) 133 TGGCAGGGGAAATCACCACCA 0.587000 15 25 0 0 1 0 0 CD163L1 283316 broad.mit.edu 37 12 7548952 7548952 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:7548952C>T ENST00000313599.3 - 8 1846 c.1789G>A c.(1789-1791)Gag>Aag p.E597K CD163L1_ENST00000396630.1_Missense_Mutation_p.E597K|CD163L1_ENST00000416109.2_Missense_Mutation_p.E607K Q9NR16 C163B_HUMAN CD163 molecule-like 1 597 SRCR 6. extracellular region|integral to membrane|plasma membrane scavenger receptor activity breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4) 96 AAGTACACCTCCAGTCTTCCC 0.552000 9 20 0 0 1 0 0 BCAP29 55973 broad.mit.edu 37 7 107234427 107234427 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:107234427C>T ENST00000379119.2 + 3 235 c.221C>T c.(220-222)tCc>tTc p.S74F BCAP29_ENST00000005259.4_Missense_Mutation_p.S74F|BCAP29_ENST00000494086.1_3'UTR|BCAP29_ENST00000465919.1_5'UTR|BCAP29_ENST00000379117.2_Missense_Mutation_p.S74F|BCAP29_ENST00000445771.2_Missense_Mutation_p.S74F NM_001008405.2 NP_001008405.1 Q9UHQ4 BAP29_HUMAN B-cell receptor-associated protein 29 74 apoptosis|intracellular protein transport|vesicle-mediated transport endoplasmic reticulum membrane|integral to membrane cervix(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|skin(1)|urinary_tract(1) 14 AGGAAATATTCCTCAGTTCAT 0.353000 34 155 0 0 1 0 0 C3 718 broad.mit.edu 37 19 6697558 6697558 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:6697558C>T ENST00000245907.6 - 21 2685 c.2593G>A c.(2593-2595)Gaa>Aaa p.E865K NM_000064.2 NP_000055.2 P01024 CO3_HUMAN complement component 3 865 complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production extracellular space endopeptidase inhibitor activity|receptor binding breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3) 72 GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661) TGGAGTAGTTCCACCCTCACC 0.612000 27 42 0 0 1 0 0 PKHD1L1 93035 broad.mit.edu 37 8 110463371 110463371 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:110463371G>A ENST00000378402.5 + 41 6447 c.6343G>A c.(6343-6345)Gga>Aga p.G2115R NM_177531.4 NP_803875.2 Q86WI1 PKHL1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 2115 IPT/TIG 14. immune response cytosol|extracellular space|integral to membrane receptor activity NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4) 263 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) CGTGGGATCAGGATTCAGGTA 0.507000 HNSCC(38;0.096) OREG0018931 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 19 0 0 1 0 0 GPR179 440435 broad.mit.edu 37 17 36485665 36485665 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:36485665C>T ENST00000342292.4 - 11 3807 c.3787G>A c.(3787-3789)Gaa>Aaa p.E1263K NM_001004334.2 NP_001004334.2 Q6PRD1 GP179_HUMAN G protein-coupled receptor 179 1263 integral to membrane|plasma membrane G-protein coupled receptor activity breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 60 Breast(7;2.97e-12) Breast(25;0.0101)|Ovarian(249;0.15) GGGCAGATTTCGGCCTTGTTG 0.607000 42 101 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179469442 179469442 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:179469442C>T ENST00000589042.1 - 281 54598 c.54374G>A c.(54373-54375)aGa>aAa p.R18125K TTN_ENST00000359218.5_Missense_Mutation_p.R9185K|TTN_ENST00000591111.1_Missense_Mutation_p.R16484K|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R15557K|TTN_ENST00000460472.2_Missense_Mutation_p.R9060K|TTN_ENST00000342175.6_Missense_Mutation_p.R9252K|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000419746.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 16484 Fibronectin type-III 31. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TACCCCATATCTTTTCTCTAC 0.348000 31 90 0 0 1 0 0 BMP3 651 broad.mit.edu 37 4 81967744 81967744 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:81967744C>T ENST00000282701.2 + 2 1489 c.1169C>T c.(1168-1170)tCc>tTc p.S390F NM_001201.2 NP_001192.2 P12645 BMP3_HUMAN bone morphogenetic protein 3 390 cartilage development|cell differentiation|cell-cell signaling|growth|ossification extracellular space BMP receptor binding|cytokine activity|growth factor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1) 29 TGGATTATCTCCCCCAAGTCC 0.463000 70 139 0 0 1 0 0 DYSF 8291 broad.mit.edu 37 2 71871139 71871139 + Missense_Mutation SNP A A G TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:71871139A>G ENST00000258104.3 + 41 4732 c.4455A>G c.(4453-4455)atA>atG p.I1485M DYSF_ENST00000409651.1_Missense_Mutation_p.I1517M|DYSF_ENST00000479049.2_3'UTR|DYSF_ENST00000410041.1_Missense_Mutation_p.I1503M|DYSF_ENST00000394120.2_Missense_Mutation_p.I1486M|DYSF_ENST00000429174.2_Missense_Mutation_p.I1506M|DYSF_ENST00000409366.1_Missense_Mutation_p.I1507M|DYSF_ENST00000409744.1_Missense_Mutation_p.I1493M|DYSF_ENST00000409582.3_Missense_Mutation_p.I1523M|DYSF_ENST00000409762.1_Missense_Mutation_p.I1502M|DYSF_ENST00000413539.2_Missense_Mutation_p.I1516M|DYSF_ENST00000410020.3_Missense_Mutation_p.I1524M NM_001130976.1|NM_003494.3 NP_001124448.1|NP_003485.1 O75923 DYSF_HUMAN dysferlin 1485 cytoplasmic vesicle membrane|integral to membrane|sarcolemma calcium-dependent phospholipid binding autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2) 111 TTGCCTCCATAGGGGAGAGGG 0.502000 12 24 0 0 1 0 0 CCDC42 146849 broad.mit.edu 37 17 8647397 8647397 + Splice_Site SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:8647397C>T ENST00000293845.3 - 2 415 c.189_splice c.e2+1 p.K63_splice CCDC42_ENST00000539522.2_Splice_Site_p.K63_splice NM_144681.2 NP_653282.2 Q96M95 CCD42_HUMAN coiled-coil domain containing 42 63 kidney(1)|large_intestine(4)|lung(3)|ovary(1) 9 GAGTCCCCACCTTCTTCTTCT 0.572000 29 50 0 0 1 0 0 EGF 1950 broad.mit.edu 37 4 110908961 110908961 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:110908961G>A ENST00000265171.5 + 17 2998 c.2553G>A c.(2551-2553)gaG>gaA p.E851E EGF_ENST00000509793.1_Silent_p.E809E|EGF_ENST00000503392.1_Silent_p.E851E NM_001178130.1|NM_001963.4 NP_001171601.1|NP_001954.2 P01133 EGF_HUMAN epidermal growth factor 851 EGF-like 6. angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface integral to membrane|plasma membrane|platelet alpha granule lumen calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 50 Hepatocellular(203;0.0893) OV - Ovarian serous cystadenocarcinoma(123;9.87e-06) Sulindac(DB00605) CAGAGGGAGAGGATGCCACAT 0.433000 47 80 0 0 1 0 0 GNAZ 2781 broad.mit.edu 37 22 23438038 23438038 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr22:23438038G>A ENST00000248996.4 + 2 822 c.156G>A c.(154-156)caG>caA p.Q52Q RTDR1_ENST00000216036.4_Intron NM_002073.2 NP_002064.1 P19086 GNAZ_HUMAN guanine nucleotide binding protein (G protein), alpha z polypeptide 52 endoplasmic reticulum|heterotrimeric G-protein complex|nuclear envelope G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|metabotropic serotonin receptor binding|receptor signaling protein activity endometrium(3)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(5)|urinary_tract(1) 19 all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181) READ - Rectum adenocarcinoma(21;0.166) TCGTCAAACAGATGAAGATCA 0.587000 90 214 0 0 1 0 0 CLDN22 53842 broad.mit.edu 37 4 184240924 184240924 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:184240924C>T ENST00000323319.5 - 1 1003 c.448G>A c.(448-450)Gat>Aat p.D150N WWC2_ENST00000403733.3_3'UTR NM_001111319.1 NP_001104789.1 Q8N7P3 CLD22_HUMAN claudin 22 150 calcium-independent cell-cell adhesion|tight junction assembly integral to membrane|tight junction identical protein binding|structural molecule activity cervix(1)|kidney(1)|lung(3)|prostate(1)|skin(1) 7 all_lung(41;6.9e-12)|Lung NSC(41;1.28e-11)|Colorectal(36;0.0172)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)|Esophageal squamous(56;0.176) all cancers(43;4.1e-26)|Epithelial(43;6.45e-22)|OV - Ovarian serous cystadenocarcinoma(60;7.64e-10)|Colorectal(24;5.87e-06)|GBM - Glioblastoma multiforme(59;6.5e-06)|STAD - Stomach adenocarcinoma(60;2.09e-05)|COAD - Colon adenocarcinoma(29;5.15e-05)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155) ACGTTCTCATCCCAGAACTCC 0.587000 21 45 0 0 1 0 0 TRGV2 6974 broad.mit.edu 37 7 38402897 38402897 + RNA SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:38402897G>A ENST00000426402.2 - 0 222 CAGGAGACAGGAAAGCTAGAA 0.478000 4 75 0 0 1 0 0 TRGV4 6977 broad.mit.edu 37 7 38393415 38393415 + RNA SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:38393415C>T ENST00000390345.2 - 0 588 AAGTATCATACTTCCCTGGGC 0.488000 7 117 0 0 1 0 0 DZIP1 22873 broad.mit.edu 37 13 96239919 96239919 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr13:96239919G>A ENST00000347108.3 - 18 2524 c.2092C>T c.(2092-2094)Cca>Tca p.P698S DZIP1_ENST00000361396.2_Missense_Mutation_p.P679S|DZIP1_ENST00000361156.3_Missense_Mutation_p.P679S|DZIP1_ENST00000376829.2_Missense_Mutation_p.P698S Q86YF9 DZIP1_HUMAN DAZ interacting zinc finger protein 1 698 germ cell development|multicellular organismal development|spermatogenesis cytoplasm|nucleus nucleic acid binding|protein binding|zinc ion binding endometrium(1)|kidney(1)|large_intestine(20)|lung(11)|ovary(2)|pancreas(1)|skin(1)|stomach(1) 38 all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163) BRCA - Breast invasive adenocarcinoma(86;0.141) AGTGGGCCTGGGGATGCGTAT 0.572000 8 60 0 0 1 0 0 PCSK5 5125 broad.mit.edu 37 9 78686790 78686790 + Silent SNP A A G TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:78686790A>G ENST00000545128.1 + 7 1408 c.870A>G c.(868-870)caA>caG p.Q290Q PCSK5_ENST00000376767.3_Silent_p.Q290Q|PCSK5_ENST00000376752.4_Silent_p.Q290Q NM_001190482.1 NP_001177411.1 Q92824 PCSK5_HUMAN proprotein convertase subtilisin/kexin type 5 290 Catalytic. anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release extracellular space|Golgi lumen|stored secretory granule peptide binding|serine-type endopeptidase activity NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 55 TCACCCGGCAAGCCTTTGAAA 0.517000 90 195 0 0 1 0 0 RGPD3 653489 broad.mit.edu 37 2 107049690 107049690 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:107049690C>T ENST00000409886.3 - 16 2344 c.2257G>A c.(2257-2259)Gaa>Aaa p.E753K RGPD3_ENST00000304514.7_Missense_Mutation_p.E753K NM_001144013.1 NP_001137485.1 A6NKT7 RGPD3_HUMAN RANBP2-like and GRIP domain containing 3 753 intracellular transport binding breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2) 71 TTTTCGAGTTCCTGCATGACT 0.368000 62 347 0 0 1 0 0 PLXNA4 91584 broad.mit.edu 37 7 131895873 131895873 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:131895873C>T ENST00000359827.3 - 10 3089 c.2127G>A c.(2125-2127)aaG>aaA p.K709K PLXNA4_ENST00000321063.4_Silent_p.K709K Q9HCM2 PLXA4_HUMAN plexin A4 709 integral to membrane|intracellular|plasma membrane NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1) 45 GCACCAGGATCTTGTCCACTC 0.602000 3 19 0 0 1 0 0 NUP160 23279 broad.mit.edu 37 11 47837156 47837156 + Nonsense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:47837156G>A ENST00000378460.2 - 13 1607 c.1561C>T c.(1561-1563)Cga>Tga p.R521* NUP160_ENST00000528501.1_Nonsense_Mutation_p.R85*|NUP160_ENST00000530326.1_Nonsense_Mutation_p.R407*|NUP160_ENST00000528071.1_Nonsense_Mutation_p.R407*|NUP160_ENST00000531016.1_5'UTR NM_015231.1 NP_056046.1 Q12769 NU160_HUMAN nucleoporin 160kDa 521 carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|Nup107-160 complex nucleocytoplasmic transporter activity|protein binding NS(1)|biliary_tract(2)|breast(7)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(6)|prostate(2)|skin(2)|urinary_tract(2) 53 TGTAAATTTCGAAACTCCTCC 0.403000 38 94 0 0 1 0 0 CCDC158 339965 broad.mit.edu 37 4 77247009 77247009 + Splice_Site SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:77247009C>T ENST00000388914.3 - 22 3310 c.e22+1 NM_001042784.1 NP_001036249.1 Q5M9N0 CD158_HUMAN coiled-coil domain containing 158 breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1) 56 ATCTTTCTTACCTTTAACAGA 0.368000 35 65 0 0 1 0 0 IMPAD1 54928 broad.mit.edu 37 8 57892693 57892693 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:57892693G>A ENST00000262644.4 - 2 709 c.451C>T c.(451-453)Cct>Tct p.P151S NM_017813.4 NP_060283.3 Q9NX62 IMPA3_HUMAN inositol monophosphatase domain containing 1 151 Golgi apparatus|integral to membrane inositol-1(or 4)-monophosphatase activity|metal ion binding kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1) 7 all_cancers(86;0.175)|all_lung(136;0.0321)|Lung NSC(129;0.0417)|all_epithelial(80;0.0448) ATATCCTCAGGAATCTTATGA 0.403000 8 112 0 0 1 0 0 OBSCN 84033 broad.mit.edu 37 1 228562363 228562363 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:228562363G>A ENST00000570156.2 + 108 25518 c.25444G>A c.(25444-25446)Gtg>Atg p.V8482M OBSCN_ENST00000366707.4_Missense_Mutation_p.V5159M|OBSCN_ENST00000422127.1_Missense_Mutation_p.V7525M NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 7525 apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) GACCATCCTGGTGGTGGTGGC 0.627000 11 177 0 0 1 0 0 NOS1 4842 broad.mit.edu 37 12 117710195 117710195 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:117710195G>A ENST00000317775.6 - 10 2519 c.1834C>T c.(1834-1836)Ctg>Ttg p.L612L NOS1_ENST00000344089.3_3'UTR|NOS1_ENST00000338101.4_Silent_p.L612L NM_000620.4|NM_001204218.1 NP_000611.1|NP_001191147.1 P29475 NOS1_HUMAN nitric oxide synthase 1 (neuronal) 612 multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 117 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) BRCA - Breast invasive adenocarcinoma(302;0.0561) L-Citrulline(DB00155) CTTACCTCCAGGATATTGTAG 0.597000 35 75 0 0 1 0 0 IGFL2 147920 broad.mit.edu 37 19 46664012 46664012 + Missense_Mutation SNP T T G TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:46664012T>G ENST00000434646.2 + 4 539 c.248T>G c.(247-249)tTc>tGc p.F83C IGFL2_ENST00000600243.1_3'UTR|AC007193.6_ENST00000597989.1_lincRNA|IGFL2_ENST00000377693.4_Missense_Mutation_p.F72C NM_001002915.2 NP_001002915.2 Q6UWQ7 IGFL2_HUMAN IGF-like family member 2 72 extracellular region protein binding cervix(1)|lung(5) 6 Ovarian(192;0.0908)|all_neural(266;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(486;0.031)|Epithelial(262;0.247) CCCTGCACCTTCTGGCCCTGC 0.537000 35 427 0 0 1 0 0 TRAPPC3 27095 broad.mit.edu 37 1 36603489 36603489 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:36603489G>A ENST00000373166.3 - 4 421 c.331C>T c.(331-333)Ccc>Tcc p.P111S TRAPPC3_ENST00000373163.1_Missense_Mutation_p.P65S|TRAPPC3_ENST00000462715.1_5'UTR|TRAPPC3_ENST00000373162.1_Missense_Mutation_p.P65S NM_001270896.1|NM_014408.3 NP_001257825.1|NP_055223.1 O43617 TPPC3_HUMAN trafficking protein particle complex 3 111 endoplasmic reticulum guanylate cyclase activity|heme binding central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(1) 4 Myeloproliferative disorder(586;0.0393) TCCACCAAGGGGTTATTTTCC 0.483000 45 89 0 0 1 0 0 PTPRC 5788 broad.mit.edu 37 1 198685878 198685878 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:198685878G>A ENST00000367376.2 + 13 1524 c.1353G>A c.(1351-1353)acG>acA p.T451T PTPRC_ENST00000442510.2_Silent_p.T453T|PTPRC_ENST00000352140.3_Silent_p.T403T|PTPRC_ENST00000348564.6_Silent_p.T292T|PTPRC_ENST00000594404.1_Silent_p.T290T NM_002838.4 NP_002829.3 P08575 PTPRC_HUMAN protein tyrosine phosphatase, receptor type, C 451 Fibronectin type-III 1. axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway focal adhesion|integral to plasma membrane|membrane raft protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3) 111 AACCTTATACGAAATATGTTT 0.308000 31 44 0 0 1 0 0 CPS1 1373 broad.mit.edu 37 2 211518791 211518791 + Missense_Mutation SNP G G A rs146968493 TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:211518791G>A ENST00000233072.5 + 29 3719 c.3523G>A c.(3523-3525)Gaa>Aaa p.E1175K CPS1_ENST00000430249.2_Missense_Mutation_p.E1181K|CPS1_ENST00000451903.2_Missense_Mutation_p.E724K NM_001875.4 NP_001866.2 P31327 CPSM_HUMAN carbamoyl-phosphate synthase 1, mitochondrial 1175 ATP-grasp 2. carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle mitochondrial nucleoid ATP binding|carbamoyl-phosphate synthase (ammonia) activity p.E1175*(1) breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 142 Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843) AGGGGCCCGAGAAGTAGAAAT 0.428000 36 80 0 0 1 0 0 UNC79 57578 broad.mit.edu 37 14 94156630 94156630 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr14:94156630G>A ENST00000553484.1 + 47 7590 c.7436G>A c.(7435-7437)gGa>gAa p.G2479E UNC79_ENST00000393151.2_Missense_Mutation_p.G2457E|UNC79_ENST00000555664.1_Missense_Mutation_p.G2418E|UNC79_ENST00000256339.4_Missense_Mutation_p.G2280E Q9P2D8 UNC79_HUMAN unc-79 homolog (C. elegans) 2457 integral to membrane breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4) 118 ATCCTGATTGGATTTCCAGAG 0.453000 30 83 0 0 1 0 0 MYCT1 80177 broad.mit.edu 37 6 153043262 153043262 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:153043262C>T ENST00000367245.5 + 2 590 c.582C>T c.(580-582)ccC>ccT p.P194P MYCT1_ENST00000529453.1_Intron NM_025107.2 NP_079383.2 Q8N699 MYCT1_HUMAN myc target 1 194 nucleus NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 20 Ovarian(120;0.0654) OV - Ovarian serous cystadenocarcinoma(155;1.33e-10)|BRCA - Breast invasive adenocarcinoma(81;0.143) ATATCTCTCCCACCATCAGCA 0.527000 95 44 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9090330 9090330 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:9090330G>A ENST00000397910.4 - 1 1688 c.1485C>T c.(1483-1485)tcC>tcT p.S495S NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 495 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 CAGCTGTGCTGGAACTCTGCC 0.532000 51 71 0 0 1 0 0 RBM12B 389677 broad.mit.edu 37 8 94746446 94746446 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:94746446G>A ENST00000399300.2 - 3 2406 c.2193C>T c.(2191-2193)ttC>ttT p.F731F RBM12B_ENST00000520961.1_Intron|RBM12B_ENST00000517700.1_Intron NM_203390.2 NP_976324.2 Q8IXT5 RB12B_HUMAN RNA binding motif protein 12B 731 nucleotide binding|RNA binding breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2) 30 Breast(36;4.14e-07) BRCA - Breast invasive adenocarcinoma(8;0.0168) GTGGCCGACGGAAATGCTCCT 0.637000 99 231 0 0 1 0 0 DDN 23109 broad.mit.edu 37 12 49391085 49391085 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:49391085C>T ENST00000421952.2 - 2 1595 c.1574G>A c.(1573-1575)gGg>gAg p.G525E NM_015086.1 NP_055901.2 O94850 DEND_HUMAN dendrin 525 Interaction with CD2AP and NPHS1 (By similarity). dendritic spine membrane|endoplasmic reticulum membrane|nucleus|perikaryon NS(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1) 8 cccgcggcccccgccgggcTG 0.672000 16 17 0 0 1 0 0 HYDIN 54768 broad.mit.edu 37 16 70954507 70954507 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr16:70954507G>A ENST00000393567.2 - 46 7922 c.7772C>T c.(7771-7773)cCc>cTc p.P2591L NM_001270974.1 NP_001257903.1 Q4G0P3 HYDIN_HUMAN HYDIN, axonemal central pair apparatus protein 2591 breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 43 Ovarian(137;0.0654) CTCTCCTTTGGGAAGCTTGTC 0.572000 17 10 0 0 1 0 0 PIK3R6 146850 broad.mit.edu 37 17 8740147 8740147 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:8740147C>T ENST00000311434.9 - 6 591 c.352G>A c.(352-354)Gac>Aac p.D118N PIK3R6_ENST00000434064.2_5'UTR NM_001010855.2 NP_001010855.1 Q5UE93 PI3R6_HUMAN phosphoinositide-3-kinase, regulatory subunit 6 118 platelet activation cytosol ATCGCGCAGTCCAAGGCGACT 0.552000 10 11 0 0 1 0 0 TG 7038 broad.mit.edu 37 8 133913696 133913696 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:133913696C>T ENST00000220616.4 + 16 3572 c.3532C>T c.(3532-3534)Cca>Tca p.P1178S TG_ENST00000377869.1_Missense_Mutation_p.P1178S NM_003235.4 NP_003226.4 P01266 THYG_HUMAN thyroglobulin 1178 Thyroglobulin type-1 10. hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation extracellular space hormone activity NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8) 168 Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735) BRCA - Breast invasive adenocarcinoma(115;0.000701) KIRC - Kidney renal clear cell carcinoma(542;0.0546) GGGCTTTTCCCCAGTGCAATG 0.647000 4 140 0 0 1 0 0 NRXN1 9378 broad.mit.edu 37 2 50149102 50149102 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:50149102C>T ENST00000404971.1 - 24 5963 c.4624G>A c.(4624-4626)Gat>Aat p.D1542N NRXN1_ENST00000405472.3_Missense_Mutation_p.D1494N|NRXN1_ENST00000406859.3_Missense_Mutation_p.D1472N|NRXN1_ENST00000406316.2_Missense_Mutation_p.D1472N|NRXN1_ENST00000342183.5_Missense_Mutation_p.D437N|NRXN1_ENST00000401669.2_Missense_Mutation_p.D1502N|NRXN1_ENST00000402717.3_Missense_Mutation_p.D1494N|NRXN1_ENST00000401710.1_Missense_Mutation_p.D490N NM_001135659.1 NP_001129131.1 Q9ULB1 NRX1A_HUMAN neurexin 1 1472 adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition cell surface|integral to plasma membrane metal ion binding|protein binding|receptor activity breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 58 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192) Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116) TACTCTTTATCCTTGTTTTTC 0.348000 24 76 0 0 1 0 0 LRRK2 120892 broad.mit.edu 37 12 40714893 40714893 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:40714893C>T ENST00000298910.7 + 35 5131 c.5073C>T c.(5071-5073)atC>atT p.I1691I NM_198578.3 NP_940980.3 Q5S007 LRRK2_HUMAN leucine-rich repeat kinase 2 1691 activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb external side of mitochondrial outer membrane ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2) 181 all_cancers(12;0.00108)|Breast(8;0.218) Lung NSC(34;0.0942)|all_lung(34;0.11) CTGAAATTATCATCCGACTAT 0.393000 69 144 0 0 1 0 0 SIGLEC6 946 broad.mit.edu 37 19 52034618 52034618 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:52034618G>A ENST00000346477.3 - 2 291 c.223C>T c.(223-225)Cca>Tca p.P75S SIGLEC6_ENST00000425629.3_Missense_Mutation_p.P75S|SIGLEC6_ENST00000391797.3_Missense_Mutation_p.P75S|SIGLEC6_ENST00000359982.4_Missense_Mutation_p.P75S|SIGLEC6_ENST00000343300.4_Missense_Mutation_p.P75S|SIGLEC6_ENST00000436458.1_Missense_Mutation_p.P39S NM_198845.4 NP_942142.3 O43699 SIGL6_HUMAN sialic acid binding Ig-like lectin 6 75 Ig-like V-type. cell adhesion|cell-cell signaling cytoplasm|extracellular region|integral to plasma membrane|membrane fraction|nucleus endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(15)|ovary(1)|stomach(1) 28 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165) GTGGCCACTGGAACATCAGCC 0.587000 39 81 0 0 1 0 0 SYT15 83849 broad.mit.edu 37 10 46965098 46965098 + Nonsense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:46965098G>A ENST00000374323.3 - 5 1593 c.1006C>T c.(1006-1008)Cag>Tag p.Q336* SYT15_ENST00000374325.3_Nonsense_Mutation_p.Q283*|SYT15_ENST00000374321.4_Nonsense_Mutation_p.Q283*|SYT15_ENST00000503753.1_Nonsense_Mutation_p.Q283*|RP11-38L15.3_ENST00000506914.1_RNA Q9BQS2 SYT15_HUMAN synaptotagmin XV 283 C2 2. integral to membrane|plasma membrane cervix(1)|endometrium(5)|kidney(2)|lung(5) 13 AGGCAGAACTGGAGGTCGCCA 0.622000 7 102 0 0 1 0 0 OR2A2 442361 broad.mit.edu 37 7 143807575 143807575 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:143807575C>T ENST00000408979.2 + 1 969 c.900C>T c.(898-900)ctC>ctT p.L300L NM_001005480.2 NP_001005480.2 Q6IF42 OR2A2_HUMAN olfactory receptor, family 2, subfamily A, member 2 300 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)|skin(4) 22 Melanoma(164;0.0783) AGGGCGCCCTCCACAGAGCAC 0.463000 59 260 0 0 1 0 0 SLC6A1 6529 broad.mit.edu 37 3 11067215 11067215 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:11067215G>A ENST00000287766.4 + 8 1216 c.795G>A c.(793-795)aaG>aaA p.K265K SLC6A1_ENST00000536032.1_Silent_p.K87K NM_003042.3 NP_003033.3 P30531 SC6A1_HUMAN solute carrier family 6 (neurotransmitter transporter), member 1 265 neurotransmitter secretion integral to plasma membrane gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity breast(1)|endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(1) 26 Ovarian(110;0.0392) OV - Ovarian serous cystadenocarcinoma(96;0.00099) Cocaine(DB00907)|Tiagabine(DB00906) CCGGGGCCAAGGAGGGCATCC 0.577000 25 43 0 0 1 0 0 RBPMS2 348093 broad.mit.edu 37 15 65040678 65040678 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr15:65040678G>A ENST00000300069.4 - 6 774 c.507C>T c.(505-507)atC>atT p.I169I RBPMS2_ENST00000560606.1_Silent_p.I58I NM_194272.1 NP_919248.1 Q6ZRY4 RBPS2_HUMAN RNA binding protein with multiple splicing 2 169 nucleic acid binding|nucleotide binding breast(1)|large_intestine(3)|lung(3)|prostate(1) 8 CAGCATGGGAGATGGCTGGGG 0.622000 37 68 0 0 1 0 0 COL1A2 1278 broad.mit.edu 37 7 94047141 94047141 + Nonsense_Mutation SNP A A T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:94047141A>T ENST00000297268.6 + 32 2440 c.1969A>T c.(1969-1971)Aag>Tag p.K657* NM_000089.3 NP_000080.2 P08123 CO1A2_HUMAN collagen, type I, alpha 2 657 axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway collagen type I|extracellular space|plasma membrane extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging COL1A2/PLAG1(3) NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 115 all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08) STAD - Stomach adenocarcinoma(171;0.0031) Collagenase(DB00048) CAAGGGAGAAAAGGTACGTGT 0.522000 HNSCC(75;0.22) 5 26 0 0 1 0 0 DMGDH 29958 broad.mit.edu 37 5 78347234 78347234 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:78347234C>T ENST00000255189.3 - 5 649 c.621G>A c.(619-621)agG>agA p.R207R DMGDH_ENST00000540686.1_Intron|DMGDH_ENST00000380311.4_Intron NM_013391.2 NP_037523.2 Q9UI17 M2GD_HUMAN dimethylglycine dehydrogenase 207 choline metabolic process|glycine catabolic process mitochondrial matrix aminomethyltransferase activity|dimethylglycine dehydrogenase activity|electron carrier activity breast(2)|endometrium(2)|kidney(2)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1) 34 all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192) OV - Ovarian serous cystadenocarcinoma(54;6.52e-45)|Epithelial(54;5.96e-40)|all cancers(79;3.56e-35) CACCACATTTCCTAGCCCCAG 0.448000 65 106 0 0 1 0 0 SIRPG 55423 broad.mit.edu 37 20 1638318 1638318 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr20:1638318G>A ENST00000303415.3 - 1 107 c.43C>T c.(43-45)Ctg>Ttg p.L15L SIRPG_ENST00000381583.2_Silent_p.L15L|SIRPG_ENST00000216927.4_Silent_p.L15L|SIRPG_ENST00000344103.4_Silent_p.L15L NM_018556.3 NP_061026.2 Q9P1W8 SIRPG_HUMAN signal-regulatory protein gamma 15 blood coagulation|cell adhesion|cell junction assembly|cell-cell signaling|intracellular signal transduction|leukocyte migration|negative regulation of cell proliferation|positive regulation of cell proliferation|positive regulation of cell-cell adhesion|positive regulation of T cell activation integral to membrane|intracellular|plasma membrane protein binding breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|stomach(1) 27 GTCAGAAGCAGGAAAGGACCA 0.567000 28 95 0 0 1 0 0 RLF 6018 broad.mit.edu 37 1 40704568 40704568 + Silent SNP T T G TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:40704568T>G ENST00000372771.4 + 8 4221 c.4194T>G c.(4192-4194)ctT>ctG p.L1398L NM_012421.3 NP_036553.2 Q13129 RLF_HUMAN rearranged L-myc fusion 1398 chromosome organization|DNA integration|DNA mediated transformation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent DNA binding|protein binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(18)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(4)|urinary_tract(2) 68 Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461) CTAAAGTACTTTCCGAAGCTG 0.413000 43 73 0 0 1 0 0 EXD1 161829 broad.mit.edu 37 15 41482303 41482303 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr15:41482303G>A ENST00000314992.5 - 9 904 c.714C>T c.(712-714)atC>atT p.I238I EXD1_ENST00000458580.2_Silent_p.I296I NM_152596.2 NP_689809.2 Q8NHP7 EXD1_HUMAN exonuclease 3'-5' domain containing 1 238 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process intracellular 3'-5' exonuclease activity|nucleic acid binding large_intestine(5)|liver(1)|lung(4)|ovary(2)|prostate(2)|skin(2) 16 AAACAGGTCGGATGAACCATA 0.423000 31 78 0 0 1 0 0 C1orf131 128061 broad.mit.edu 37 1 231362737 231362737 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:231362737G>A ENST00000318906.2 - 4 616 c.588C>T c.(586-588)gcC>gcT p.A196A C1orf131_ENST00000366651.3_Silent_p.A195A|C1orf131_ENST00000366649.2_Silent_p.A196A Q8NDD1 CA131_HUMAN chromosome 1 open reading frame 131 196 breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1) 8 Breast(184;0.0871) all_cancers(173;0.2)|Prostate(94;0.183) CCAGCATAATGGCACGTTCCT 0.488000 34 72 0 0 1 0 0 PTPN22 26191 broad.mit.edu 37 1 114362206 114362206 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:114362206C>T ENST00000359785.5 - 20 2487 c.2352G>A c.(2350-2352)ctG>ctA p.L784L PTPN22_ENST00000460620.1_Silent_p.*180*|PTPN22_ENST00000538253.1_Silent_p.L540L|PTPN22_ENST00000528414.1_Silent_p.L729L|PTPN22_ENST00000525799.1_Silent_p.L657L|PTPN22_ENST00000420377.2_Silent_p.L784L|RP5-1073O3.2_ENST00000429398.1_RNA NM_001193431.1|NM_015967.5 NP_001180360.1|NP_057051.3 Q9Y2R2 PTN22_HUMAN protein tyrosine phosphatase, non-receptor type 22 (lymphoid) 784 negative regulation of T cell activation|negative regulation of T cell receptor signaling pathway|phosphoanandamide dephosphorylation|regulation of B cell receptor signaling pathway|regulation of natural killer cell proliferation|T cell differentiation internal side of plasma membrane|nucleus|perinuclear region of cytoplasm kinase binding|protein tyrosine phosphatase activity|SH3 domain binding NS(1)|breast(1)|kidney(3)|large_intestine(4)|lung(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 21 Lung SC(450;0.184) all_cancers(81;1.93e-08)|all_epithelial(167;4.37e-08)|all_lung(203;5.22e-06)|Lung NSC(69;8.94e-06) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) TACCAAAATTCAGAAATGAGC 0.299000 19 37 0 0 1 0 0 CYP4X1 260293 broad.mit.edu 37 1 47514278 47514278 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:47514278C>T ENST00000371901.3 + 10 1499 c.1249C>T c.(1249-1251)Cct>Tct p.P417S CYP4X1_ENST00000538609.1_Missense_Mutation_p.P416S NM_178033.1 NP_828847.1 Q8N118 CP4X1_HUMAN cytochrome P450, family 4, subfamily X, polypeptide 1 417 endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(1) 17 TCACCACAACCCTGCTGTCTG 0.428000 103 216 0 0 1 0 0 ITPR3 3710 broad.mit.edu 37 6 33644619 33644619 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:33644619C>T ENST00000374316.5 + 27 4417 c.3357C>T c.(3355-3357)acC>acT p.T1119T ITPR3_ENST00000605930.1_Silent_p.T1119T Q14573 ITPR3_HUMAN inositol 1,4,5-trisphosphate receptor, type 3 1119 activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 85 GGCTGCGGACCATGGTGGAGA 0.607000 18 69 0 0 1 0 0 ZC3H13 23091 broad.mit.edu 37 13 46619144 46619144 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr13:46619144C>T ENST00000242848.4 - 3 521 c.173G>A c.(172-174)aGa>aAa p.R58K ZC3H13_ENST00000282007.3_Missense_Mutation_p.R58K Q5T200 ZC3HD_HUMAN zinc finger CCCH-type containing 13 58 nucleic acid binding|zinc ion binding cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 79 Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;4.18e-05) ATGTACGAATCTACATGTGTT 0.383000 41 79 0 0 1 0 0 PDGFRB 5159 broad.mit.edu 37 5 149510137 149510137 + Silent SNP C C T rs67735560 TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:149510137C>T ENST00000261799.4 - 9 1801 c.1332G>A c.(1330-1332)ccG>ccA p.P444P NM_002609.3 NP_002600.1 P09619 PGFRB_HUMAN platelet-derived growth factor receptor, beta polypeptide 444 Ig-like C2-type 5. aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1) 75 all_hematologic(541;0.224) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268) AGATGATGTTCGGCTGGGGCA 0.597000 T """ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP""" """MPD, AML, CMML, CML""" OREG0016927 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 93 157 0 0 1 0 0 MCF2 4168 broad.mit.edu 37 X 138671994 138671994 + Splice_Site SNP C C G TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chrX:138671994C>G ENST00000520602.1 - 23 2835 c.2550_splice c.e23+1 p.Q850_splice MCF2_ENST00000519895.1_Splice_Site_p.Q866_splice|MCF2_ENST00000338585.6_Splice_Site_p.Q806_splice|MCF2_ENST00000414978.1_Splice_Site_p.Q850_splice|MCF2_ENST00000370578.4_Splice_Site_p.Q935_splice|MCF2_ENST00000370573.4_Splice_Site_p.Q790_splice|MCF2_ENST00000370576.4_Splice_Site_p.Q790_splice|MCF2_ENST00000536274.1_Splice_Site_p.Q751_splice P10911 MCF2_HUMAN MCF.2 cell line derived transforming sequence 790 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytoskeleton|cytosol|membrane|membrane fraction protein binding|Rho guanyl-nucleotide exchange factor activity p.Q790Q(2)|p.Q866Q(1) NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1) 62 Acute lymphoblastic leukemia(192;0.000127) AATGACCAACCTGGACAATAT 0.318000 27 28 0 0 1 0 0 ALDH2 217 broad.mit.edu 37 12 112230442 112230442 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:112230442C>T ENST00000261733.2 + 9 1000 c.939C>T c.(937-939)ttC>ttT p.F313F ALDH2_ENST00000416293.3_Silent_p.F266F NM_000690.3 NP_000681.2 P05091 ALDH2_HUMAN aldehyde dehydrogenase 2 family (mitochondrial) 313 carbohydrate metabolic process|ethanol oxidation|neurotransmitter biosynthetic process|xenobiotic metabolic process mitochondrial matrix aldehyde dehydrogenase|aldehyde dehydrogenase (NAD) activity|electron carrier activity NS(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|stomach(1) 22 Disulfiram(DB00822)|Guanidine(DB00536)|NADH(DB00157)|Nitroglycerin(DB00727) CCCTGTTCTTCAACCAGGGCC 0.632000 T HMGA2 leiomyoma 10 15 0 0 1 0 0 SAMD9 54809 broad.mit.edu 37 7 92731646 92731646 + Silent SNP A A C TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:92731646A>C ENST00000379958.2 - 3 4034 c.3765T>G c.(3763-3765)ccT>ccG p.P1255P NM_001193307.1|NM_017654.3 NP_001180236.1|NP_060124.2 Q5K651 SAMD9_HUMAN sterile alpha motif domain containing 9 1255 cytoplasm NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 88 all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125) STAD - Stomach adenocarcinoma(171;0.000302) TAGTTAAATAAGGAATATAGT 0.289000 50 171 0 0 1 0 0 LRRC66 339977 broad.mit.edu 37 4 52860678 52860678 + Nonsense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:52860678C>T ENST00000343457.3 - 4 2516 c.2510G>A c.(2509-2511)tGg>tAg p.W837* NM_001024611.1 NP_001019782.1 Q68CR7 LRC66_HUMAN leucine rich repeat containing 66 837 integral to membrane central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1) 58 TGAGCAATGCCATTCTGCTGC 0.478000 25 53 0 0 1 0 0 HP1BP3 50809 broad.mit.edu 37 1 21103171 21103171 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:21103171G>A ENST00000312239.5 - 4 408 c.269C>T c.(268-270)tCg>tTg p.S90L HP1BP3_ENST00000375000.1_Missense_Mutation_p.S90L|HP1BP3_ENST00000487117.1_5'UTR NM_016287.3 NP_057371.2 Q5SSJ5 HP1B3_HUMAN heterochromatin protein 1, binding protein 3 90 nucleosome assembly nucleosome|nucleus DNA binding central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|prostate(2)|skin(2)|urinary_tract(1) 16 all_lung(284;6.55e-06)|Lung NSC(340;6.59e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.26e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00015)|GBM - Glioblastoma multiforme(114;0.000521)|Kidney(64;0.000529)|STAD - Stomach adenocarcinoma(196;0.00311)|KIRC - Kidney renal clear cell carcinoma(64;0.00687)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.201) TGCCTCACTCGAAGTAGCAGG 0.423000 63 148 0 0 1 0 0 ARMC12 221481 broad.mit.edu 37 6 35705859 35705859 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:35705859C>T ENST00000373866.3 + 2 241 c.219C>T c.(217-219)ctC>ctT p.L73L ARMC12_ENST00000288065.2_Silent_p.L100L|ARMC12_ENST00000373869.3_Silent_p.L73L Q5T9G4 CF081_HUMAN armadillo repeat containing 12 73 binding TCCGGAGGCTCCTCAACTCTT 0.587000 OREG0017379 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 50 176 0 0 1 0 0 DPP6 1804 broad.mit.edu 37 7 154587594 154587594 + Splice_Site SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:154587594G>A ENST00000404039.1 + 12 1694 c.e12+1 DPP6_ENST00000427557.1_Splice_Site|DPP6_ENST00000377770.3_Splice_Site|DPP6_ENST00000332007.3_Splice_Site NM_001039350.1|NM_001936.3|NM_130797.2 NP_001034439.1|NP_001927.3|NP_570629.2 P42658 DPP6_HUMAN dipeptidyl-peptidase 6 cell death|proteolysis integral to membrane dipeptidyl-peptidase activity|serine-type peptidase activity p.?(3) NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 71 all_neural(206;0.181) all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204) OV - Ovarian serous cystadenocarcinoma(82;0.0562) CCACAGACAGGTAACTACTGC 0.478000 13 33 0 0 1 0 0 KCNB2 9312 broad.mit.edu 37 8 73848639 73848639 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:73848639C>T ENST00000523207.1 + 3 1637 c.1049C>T c.(1048-1050)tCc>tTc p.S350F NM_004770.2 NP_004761.2 Q92953 KCNB2_HUMAN potassium voltage-gated channel, Shab-related subfamily, member 2 350 regulation of smooth muscle contraction voltage-gated potassium channel complex delayed rectifier potassium channel activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1) 85 Breast(64;0.137) Epithelial(68;0.105) ATGATATTTTCCAGCCTGGTA 0.473000 75 165 0 0 1 0 0 EPB41L2 2037 broad.mit.edu 37 6 131277486 131277486 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:131277486G>A ENST00000337057.3 - 2 321 c.140C>T c.(139-141)tCc>tTc p.S47F EPB41L2_ENST00000525271.1_Missense_Mutation_p.S47F|EPB41L2_ENST00000525193.1_Missense_Mutation_p.S47F|EPB41L2_ENST00000527411.1_Missense_Mutation_p.S47F|EPB41L2_ENST00000530481.1_Missense_Mutation_p.S47F|EPB41L2_ENST00000528282.1_Missense_Mutation_p.S47F|EPB41L2_ENST00000445890.2_Missense_Mutation_p.S47F|EPB41L2_ENST00000368128.2_Missense_Mutation_p.S47F|EPB41L2_ENST00000527659.1_Missense_Mutation_p.S47F|EPB41L2_ENST00000529208.1_Missense_Mutation_p.S47F|EPB41L2_ENST00000392427.3_Missense_Mutation_p.S47F|EPB41L2_ENST00000530148.1_Intron NM_001431.3 NP_001422.1 O43491 E41L2_HUMAN erythrocyte membrane protein band 4.1-like 2 47 cortical actin cytoskeleton organization extrinsic to membrane|plasma membrane|spectrin actin binding|structural molecule activity autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2) 44 Breast(56;0.0639) OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355) AGGTGGCTGGGAACCTTTTTC 0.493000 16 129 0 0 1 0 0 OR10AG1 282770 broad.mit.edu 37 11 55735569 55735569 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:55735569G>A ENST00000312345.2 - 1 421 c.371C>T c.(370-372)cCt>cTt p.P124L NM_001005491.1 NP_001005491.1 Q8NH19 O10AG_HUMAN olfactory receptor, family 10, subfamily AG, member 1 124 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(24)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 40 Esophageal squamous(21;0.0137) CATCACTAGAGGATACTGCAA 0.433000 26 63 0 0 1 0 0 SYT10 341359 broad.mit.edu 37 12 33538141 33538141 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:33538141C>T ENST00000228567.3 - 4 1459 c.1163G>A c.(1162-1164)aGa>aAa p.R388K SYT10_ENST00000535526.1_Missense_Mutation_p.R207K NM_198992.3 NP_945343.1 Q6XYQ8 SYT10_HUMAN synaptotagmin X 388 C2 2. cell junction|integral to membrane|synaptic vesicle membrane metal ion binding|transporter activity NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1) 42 Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334) CTTCAGATTTCTGCACTTAAT 0.423000 34 104 0 0 1 0 0 LDHC 3948 broad.mit.edu 37 11 18456337 18456337 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:18456337C>T ENST00000541669.1 + 5 580 c.469C>T c.(469-471)Cgt>Tgt p.R157C LDHC_ENST00000546146.1_Missense_Mutation_p.R99C|LDHC_ENST00000544105.1_Missense_Mutation_p.R157C|LDHC_ENST00000280704.4_Missense_Mutation_p.R157C|LDHC_ENST00000537486.1_Intron|LDHC_ENST00000536880.1_Missense_Mutation_p.R143C|LDHC_ENST00000535809.1_Missense_Mutation_p.R157C P07864 LDHC_HUMAN lactate dehydrogenase C 157 glycolysis cytoplasm binding|L-lactate dehydrogenase activity breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 NADH(DB00157) ACCTGTAACTCGTGTAATTGG 0.368000 79 71 0 0 1 0 0 ANGPTL5 253935 broad.mit.edu 37 11 101762064 101762064 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:101762064C>T ENST00000334289.3 - 9 1708 c.1113G>A c.(1111-1113)aaG>aaA p.K371K NM_178127.4 NP_835228.2 Q86XS5 ANGL5_HUMAN angiopoietin-like 5 371 Fibrinogen C-terminal. signal transduction extracellular space receptor binding breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(2)|skin(3) 29 Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.043) BRCA - Breast invasive adenocarcinoma(274;0.0328) CAGATTTAATCTTGACAGGTG 0.318000 54 45 0 0 1 0 0 KIAA0922 23240 broad.mit.edu 37 4 154557633 154557633 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:154557633C>T ENST00000409959.3 + 35 4787 c.4738C>T c.(4738-4740)Cgc>Tgc p.R1580C KIAA0922_ENST00000409663.3_Missense_Mutation_p.R1579C|KIAA0922_ENST00000440693.1_Missense_Mutation_p.R1496C NM_001131007.1 NP_001124479.1 A2VDJ0 T131L_HUMAN KIAA0922 1579 integral to membrane breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(16)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 all_hematologic(180;0.093) Renal(120;0.118) CAACCCGTTTCGCGCCTATAT 0.488000 37 81 0 0 1 0 0 FLRT2 23768 broad.mit.edu 37 14 86087931 86087931 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr14:86087931G>A ENST00000330753.4 + 2 840 c.73G>A c.(73-75)Ggg>Agg p.G25R FLRT2_ENST00000554746.1_Missense_Mutation_p.G25R NM_013231.4 NP_037363.1 O43155 FLRT2_HUMAN fibronectin leucine rich transmembrane protein 2 25 cell adhesion integral to plasma membrane|proteinaceous extracellular matrix protein binding, bridging|receptor signaling protein activity NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 73 BRCA - Breast invasive adenocarcinoma(234;0.0319) CATTTCCCTGGGGCTCTACTC 0.507000 46 98 0 0 1 0 0 PXDN 7837 broad.mit.edu 37 2 1647297 1647297 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:1647297G>A ENST00000252804.4 - 19 3845 c.3795C>T c.(3793-3795)atC>atT p.I1265I NM_012293.1 NP_036425.1 Q92626 PXDN_HUMAN peroxidasin homolog (Drosophila) 1265 extracellular matrix organization|hydrogen peroxide catabolic process|immune response endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 112 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716) all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228) ACGTCTGCTTGATCTGAGTCA 0.597000 48 72 0 0 1 0 0 PLEC 5339 broad.mit.edu 37 8 144999933 144999933 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:144999933C>T ENST00000322810.4 - 31 4744 c.4575G>A c.(4573-4575)cgG>cgA p.R1525R PLEC_ENST00000356346.3_Silent_p.R1374R|PLEC_ENST00000354589.3_Silent_p.R1388R|PLEC_ENST00000398774.2_Silent_p.R1356R|PLEC_ENST00000527096.1_Silent_p.R1411R|PLEC_ENST00000436759.2_Silent_p.R1415R|PLEC_ENST00000354958.2_Silent_p.R1366R|PLEC_ENST00000345136.3_Silent_p.R1388R|PLEC_ENST00000357649.2_Silent_p.R1392R NM_201380.2 NP_958782.1 Q15149 PLEC_HUMAN plectin 1525 Central fibrous rod domain. cellular component disassembly involved in apoptosis|hemidesmosome assembly cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma actin binding|structural constituent of muscle NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10) 137 CCTTCGCCTCCCGCTCCGCCT 0.731000 13 26 0 0 1 0 0 CDH15 1013 broad.mit.edu 37 16 89261437 89261437 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr16:89261437C>T ENST00000289746.2 + 14 2384 c.2319C>T c.(2317-2319)ttC>ttT p.F773F NM_004933.2 NP_004924.1 P55291 CAD15_HUMAN cadherin 15, type 1, M-cadherin (myotubule) 773 adherens junction organization|cell junction assembly|homophilic cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation integral to membrane|plasma membrane calcium ion binding central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 18 BRCA - Breast invasive adenocarcinoma(80;0.0261) GGCCCCGCTTCGCCCGGCTGG 0.672000 16 9 0 0 1 0 0 FFAR4 338557 broad.mit.edu 37 10 95347322 95347322 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:95347322G>A ENST00000371483.4 + 4 1146 c.1090G>A c.(1090-1092)Gac>Aac p.D364N FFAR4_ENST00000371481.4_Missense_Mutation_p.D348N|FFAR4_ENST00000604414.1_Intron NM_181745.3 NP_859529.2 free fatty acid receptor 4 CATTTTAACAGACACATCTGT 0.418000 58 114 0 0 1 0 0 MYH15 22989 broad.mit.edu 37 3 108219037 108219037 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:108219037C>T ENST00000273353.3 - 5 540 c.484G>A c.(484-486)Ggg>Agg p.G162R NM_014981.1 NP_055796.1 Q9Y2K3 MYH15_HUMAN myosin, heavy chain 15 162 Myosin head-like. myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 105 CGCCTCTTCCCTTTGTAGGCG 0.473000 34 61 0 0 1 0 0 CD2 914 broad.mit.edu 37 1 117297415 117297415 + Missense_Mutation SNP A A T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:117297415A>T ENST00000369478.3 + 2 332 c.224A>T c.(223-225)aAa>aTa p.K75I CD2_ENST00000369477.1_Missense_Mutation_p.K75I NM_001767.3 NP_001758.2 P06729 CD2_HUMAN CD2 molecule 75 Ig-like V-type.|LFA-3 (CD58) binding region 1. blood coagulation|cell surface receptor linked signaling pathway|cell-cell adhesion|induction of apoptosis|leukocyte migration|membrane raft polarization|natural killer cell activation|positive regulation of myeloid dendritic cell activation|regulation of T cell differentiation|T cell activation integral to plasma membrane receptor activity NS(1)|breast(2)|large_intestine(3)|liver(1)|lung(8)|skin(2)|stomach(1) 18 Lung SC(450;0.225) all_cancers(81;3.15e-06)|Acute lymphoblastic leukemia(138;1.7e-08)|all_epithelial(167;8.38e-07)|all_lung(203;3.37e-06)|Lung NSC(69;2.31e-05) Epithelial(280;6.71e-26)|OV - Ovarian serous cystadenocarcinoma(397;4.74e-24)|all cancers(265;1.93e-22)|Lung(183;0.0543)|Kidney(133;0.0813)|Colorectal(144;0.174)|KIRC - Kidney renal clear cell carcinoma(1967;0.176)|LUSC - Lung squamous cell carcinoma(189;0.189)|BRCA - Breast invasive adenocarcinoma(282;0.201) Alefacept(DB00092) AGAAAAGAGAAAGAGACTTTC 0.313000 27 52 0 0 1 0 0 PLEKHM2 23207 broad.mit.edu 37 1 16058433 16058433 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:16058433C>T ENST00000375799.3 + 17 2742 c.2515C>T c.(2515-2517)Cac>Tac p.H839Y PLEKHM2_ENST00000477849.1_Intron|PLEKHM2_ENST00000375793.2_Missense_Mutation_p.H819Y|RP11-288I21.1_ENST00000453804.1_RNA NM_015164.2 NP_055979.2 Q8IWE5 PKHM2_HUMAN pleckstrin homology domain containing, family M (with RUN domain) member 2 839 Interaction with sifA.|PH. Golgi organization cytoplasm kinesin binding cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(1) 12 Colorectal(325;0.000259)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00057)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657) GGATCGGCCCCACGCCTTCCA 0.677000 14 24 0 0 1 0 0 KRT73 319101 broad.mit.edu 37 12 53011952 53011952 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:53011952C>T ENST00000305748.3 - 1 391 c.357G>A c.(355-357)gtG>gtA p.V119V NM_175068.2 NP_778238.1 Q86Y46 K2C73_HUMAN keratin 73 119 Head. keratin filament structural molecule activity NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 BRCA - Breast invasive adenocarcinoma(357;0.189) GGTCCAGCTCCACGTTCAGGG 0.587000 71 140 0 0 1 0 0 GPR98 84059 broad.mit.edu 37 5 90101205 90101205 + Nonsense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:90101205G>A ENST00000405460.2 + 72 14862 c.14766G>A c.(14764-14766)tgG>tgA p.W4922* GPR98_ENST00000425867.2_Nonsense_Mutation_p.W583* NM_032119.3 NP_115495.3 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 4922 cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6) 269 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) CGGTTGCCTGGACCACTGGAT 0.453000 22 40 0 0 1 0 0 SRCAP 10847 broad.mit.edu 37 16 30740862 30740862 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr16:30740862C>T ENST00000262518.4 + 27 6481 c.6096C>T c.(6094-6096)ttC>ttT p.F2032F SRCAP_ENST00000344771.4_Silent_p.F1874F|SRCAP_ENST00000395059.2_Silent_p.F1970F NM_006662.2 NP_006653.2 Q6ZRS2 SRCAP_HUMAN Snf2-related CREBBP activator protein 2032 interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent Golgi apparatus|nucleus|protein complex ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity p.F2032L(1) NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5) 136 Colorectal(24;0.198) GCACCCAGTTCCCTGACTTAA 0.517000 60 130 0 0 1 0 0 JMJD1C 221037 broad.mit.edu 37 10 64960288 64960288 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:64960288C>T ENST00000399262.2 - 11 5442 c.5224G>A c.(5224-5226)Gga>Aga p.G1742R JMJD1C_ENST00000402544.1_Missense_Mutation_p.G1523R|JMJD1C_ENST00000542921.1_Missense_Mutation_p.G1560R|JMJD1C_ENST00000399251.1_Intron NM_032776.1 NP_116165.1 Q15652 JHD2C_HUMAN jumonji domain containing 1C 1742 blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleoplasm histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3) 77 Prostate(12;0.0119)|all_hematologic(501;0.191) GGTTCTTCTCCTTTTTTACTG 0.358000 23 30 0 0 1 0 0 PRSS3 5646 broad.mit.edu 37 9 33798506 33798506 + Missense_Mutation SNP G G C TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:33798506G>C ENST00000361005.5 + 4 648 c.648G>C c.(646-648)aaG>aaC p.K216N PRSS3_ENST00000342836.4_Missense_Mutation_p.K173N|PRSS3_ENST00000429677.3_Missense_Mutation_p.K152N|RP11-133O22.6_ENST00000454429.2_RNA|PRSS3_ENST00000379405.3_Missense_Mutation_p.K159N NM_007343.3 NP_031369.2 P35030 TRY3_HUMAN protease, serine, 3 216 Peptidase S1. digestion|endothelial cell migration|zymogen activation extracellular space calcium ion binding|protein binding|serine-type endopeptidase activity|serine-type peptidase activity large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2) 13 LUSC - Lung squamous cell carcinoma(29;0.0176) ACGAGCTGAAGTGCCTGGATG 0.517000 75 137 0 0 1 0 0 CDH2 1000 broad.mit.edu 37 18 25583005 25583005 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr18:25583005C>T ENST00000269141.3 - 7 1399 c.976G>A c.(976-978)Gag>Aag p.E326K CDH2_ENST00000399380.3_Missense_Mutation_p.E295K NM_001792.3 NP_001783.2 P19022 CADH2_HUMAN cadherin 2, type 1, N-cadherin (neuronal) 326 Cadherin 2. adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation catenin complex|integral to membrane alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 82 TCACCAGTCTCATTGTTGATT 0.438000 47 99 0 0 1 0 0 VWF 7450 broad.mit.edu 37 12 6122766 6122766 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:6122766G>A ENST00000261405.5 - 32 5755 c.5501C>T c.(5500-5502)gCc>gTc p.A1834V NM_000552.3 NP_000543.2 P04275 VWF_HUMAN von Willebrand factor 1834 VWFA 3; main binding site for collagens type I and III. blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5) 129 Antihemophilic Factor(DB00025) CCGTAGCTGGGCTGCATCGTA 0.527000 27 68 0 0 1 0 0 APBA3 9546 broad.mit.edu 37 19 3759749 3759749 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:3759749G>A ENST00000316757.3 - 2 714 c.514C>T c.(514-516)Ccg>Tcg p.P172S NM_004886.3 NP_004877.1 O96018 APBA3_HUMAN amyloid beta (A4) precursor protein-binding, family A, member 3 172 intracellular signal transduction|protein transport intracellular|membrane protein binding endometrium(1)|large_intestine(1)|skin(1) 3 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00467)|STAD - Stomach adenocarcinoma(1328;0.18) CAGGGTTCCGGGGAACTGCTT 0.662000 30 57 0 0 1 0 0 SORCS3 22986 broad.mit.edu 37 10 106976717 106976717 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:106976717C>T ENST00000369701.3 + 19 2798 c.2571C>T c.(2569-2571)atC>atT p.I857I SORCS3_ENST00000369699.4_Silent_p.I143I NM_014978.1 NP_055793.1 Q9UPU3 SORC3_HUMAN sortilin-related VPS10 domain containing receptor 3 857 PKD. integral to membrane neuropeptide receptor activity autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 131 Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191) Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628) GGACAAACATCCAGCTTGACT 0.517000 19 39 0 0 1 0 0 DPY19L1 23333 broad.mit.edu 37 7 34979909 34979909 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:34979909G>A ENST00000310974.4 - 19 1645 c.1501C>T c.(1501-1503)Cct>Tct p.P501S NM_015283.1 NP_056098.1 Q2PZI1 D19L1_HUMAN dpy-19-like 1 (C. elegans) 501 integral to membrane endometrium(3)|kidney(5)|large_intestine(8)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(4) 31 ATAGCACCAGGATGTACTTTG 0.368000 14 55 0 0 1 0 0 OR2G3 81469 broad.mit.edu 37 1 247769806 247769806 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:247769806G>A ENST00000320002.2 + 1 951 c.919G>A c.(919-921)Gga>Aga p.G307R RP11-978I15.10_ENST00000435333.1_RNA|RP11-978I15.10_ENST00000446347.1_RNA NM_001001914.1 NP_001001914.1 Q8NGZ4 OR2G3_HUMAN olfactory receptor, family 2, subfamily G, member 3 307 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.G307R(1) NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(31)|skin(5) 50 all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) OV - Ovarian serous cystadenocarcinoma(106;0.017) ACTTCTCTCGGGAAAATTGTG 0.378000 62 73 0 0 1 0 0 FCER1A 2205 broad.mit.edu 37 1 159273960 159273960 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:159273960G>A ENST00000368115.1 + 4 418 c.319G>A c.(319-321)Gaa>Aaa p.E107K FCER1A_ENST00000368114.1_Missense_Mutation_p.E74K NM_002001.3 NP_001992.1 P12319 FCERA_HUMAN Fc fragment of IgE, high affinity I, receptor for; alpha polypeptide 107 Ig-like 1. integral to plasma membrane autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(19)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 33 all_hematologic(112;0.0429) Benzylpenicilloyl Polylysine(DB00895)|Omalizumab(DB00043) TGTGTACCTGGAAGTCTTCAG 0.398000 60 74 0 0 1 0 0 PCLO 27445 broad.mit.edu 37 7 82475910 82475910 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:82475910G>A ENST00000423517.2 - 12 14141 c.13804C>T c.(13804-13806)Ctg>Ttg p.L4602L PCLO_ENST00000426442.2_5'UTR|PCLO_ENST00000333891.8_Silent_p.L4602L NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 4490 C2 1. cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 TGAAGTTCCAGATGCTGGGAA 0.338000 10 51 0 0 1 0 0 WNK2 65268 broad.mit.edu 37 9 96051641 96051641 + Silent SNP G G T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:96051641G>T ENST00000297954.4 + 20 4716 c.4716G>T c.(4714-4716)ggG>ggT p.G1572G WNK2_ENST00000395475.2_3'UTR|WNK2_ENST00000395477.2_Silent_p.G1535G|WNK2_ENST00000356055.3_5'UTR|WNK2_ENST00000427277.2_Silent_p.G1147G|WNK2_ENST00000349097.3_Silent_p.G1184G Q9Y3S1 WNK2_HUMAN WNK lysine deficient protein kinase 2 1572 intracellular protein kinase cascade ATP binding|protein binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2) 54 AGTCGGATGGGGAAGGGCCGC 0.706000 11 25 1.58986e-06 1.59623e-06 1 1 0 BEND4 389206 broad.mit.edu 37 4 42145705 42145705 + Missense_Mutation SNP G G T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:42145705G>T ENST00000502486.1 - 3 1373 c.794C>A c.(793-795)cCa>cAa p.P265Q BEND4_ENST00000504360.1_Missense_Mutation_p.P261Q NM_207406.3 NP_997289.2 Q6ZU67 BEND4_HUMAN BEN domain containing 4 265 NS(2)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 26 CGAGGGGTTTGGAGTTGGAAA 0.493000 14 36 1.3612e-06 1.36689e-06 1 1 0 THSD7A 221981 broad.mit.edu 37 7 11676536 11676536 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:11676536C>T ENST00000423059.3 - 2 494 c.243G>A c.(241-243)acG>acA p.T81T THSD7A_ENST00000480061.1_5'UTR NM_015204.2 NP_056019.1 Q9UPZ6 THS7A_HUMAN thrombospondin, type I, domain containing 7A 81 TSP type-1 1. integral to membrane NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11) 113 UCEC - Uterine corpus endometrioid carcinoma (126;0.163) ACACAGCCCTCGTTTGGATGC 0.458000 HNSCC(18;0.044) 16 152 0 0 1 0 0 TMCO5A 145942 broad.mit.edu 37 15 38228528 38228528 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr15:38228528G>A ENST00000558158.1 + 3 158 c.4G>A c.(4-6)Gaa>Aaa p.E2K TMCO5A_ENST00000559502.1_Missense_Mutation_p.E2K|TMCO5A_ENST00000319669.4_Missense_Mutation_p.E2K|TMCO5A_ENST00000540944.1_Missense_Mutation_p.E2K Q8N6Q1 TMC5A_HUMAN transmembrane and coiled-coil domains 5A 2 integral to membrane central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2) 15 GGAGAAAATGGAAATCTCAAG 0.388000 24 62 0 0 1 0 0 CCDC36 339834 broad.mit.edu 37 3 49294393 49294393 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:49294393C>T ENST00000438782.1 + 8 1699 c.1463C>T c.(1462-1464)cCc>cTc p.P488L CCDC36_ENST00000296449.5_Missense_Mutation_p.P488L|CCDC36_ENST00000452691.2_Missense_Mutation_p.P488L Q8IYA8 CCD36_HUMAN coiled-coil domain containing 36 488 endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|ovary(1)|urinary_tract(3) 14 BRCA - Breast invasive adenocarcinoma(193;9.11e-05)|Kidney(197;0.00248)|KIRC - Kidney renal clear cell carcinoma(197;0.00262) CCTCAAAGCCCCTTCCTGGGG 0.522000 6 443 0 0 1 0 0 GRM4 2914 broad.mit.edu 37 6 34004025 34004025 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:34004025G>A ENST00000374181.3 - 8 2031 c.1862C>T c.(1861-1863)tCg>tTg p.S621L GRM4_ENST00000455714.2_Missense_Mutation_p.S481L|GRM4_ENST00000538487.1_Missense_Mutation_p.S621L|GRM4_ENST00000544773.1_Missense_Mutation_p.S452L|GRM4_ENST00000374177.3_Missense_Mutation_p.S505L|GRM4_ENST00000535756.1_Missense_Mutation_p.S488L|GRM4_ENST00000545715.1_Missense_Mutation_p.S313L NM_001256810.1 NP_001243739.1 Q14833 GRM4_HUMAN glutamate receptor, metabotropic 4 621 activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade cytoplasmic vesicle|integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 48 L-Glutamic Acid(DB00142) TTCACGGCCCGAGGCCTTGAC 0.627000 19 66 0 0 1 0 0 ASB15 142685 broad.mit.edu 37 7 123269363 123269363 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:123269363G>A ENST00000451558.1 + 12 1836 c.1315G>A c.(1315-1317)Ggc>Agc p.G439S ASB15_ENST00000434204.1_Missense_Mutation_p.G439S|ASB15_ENST00000540573.1_Missense_Mutation_p.G439S|ASB15_ENST00000451215.1_Missense_Mutation_p.G439S|ASB15_ENST00000275699.3_Missense_Mutation_p.G439S Q8WXK1 ASB15_HUMAN ankyrin repeat and SOCS box containing 15 439 intracellular signal transduction breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(3) 12 GCTGAATAATGGCTATCAAGT 0.428000 9 299 0 0 1 0 0 DNAH5 1767 broad.mit.edu 37 5 13923485 13923485 + Silent SNP G G A rs145920072 byFrequency TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:13923485G>A ENST00000265104.4 - 4 446 c.342C>T c.(340-342)ttC>ttT p.F114F NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 114 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) CCTCGGTCACGAACACCTTAG 0.433000 Kartagener syndrome 55 57 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179594551 179594551 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:179594551C>T ENST00000589042.1 - 63 18653 c.18429G>A c.(18427-18429)ggG>ggA p.G6143G TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Silent_p.G5826G|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Silent_p.G4899G|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 5826 Ig-like 42. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TTATTTCATTCCCGTCTAGAT 0.433000 6 88 0 0 1 0 0 LRP2 4036 broad.mit.edu 37 2 170063379 170063379 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:170063379G>A ENST00000263816.3 - 39 7136 c.6851C>T c.(6850-6852)aCt>aTt p.T2284I NM_004525.2 NP_004516.2 P98164 LRP2_HUMAN low density lipoprotein receptor-related protein 2 2284 hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process coated pit|integral to membrane|lysosome calcium ion binding|receptor activity|SH3 domain binding biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13) 315 STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101) Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013) TTCAAAAACAGTGATGCCATA 0.393000 56 83 0 0 1 0 0 HAAO 23498 broad.mit.edu 37 2 42995055 42995055 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:42995055C>T ENST00000294973.6 - 8 699 c.644G>A c.(643-645)gGg>gAg p.G215E NM_012205.2 NP_036337.2 P46952 3HAO_HUMAN 3-hydroxyanthranilate 3,4-dioxygenase 215 Domain B (By similarity). neuron homeostasis|pyridine nucleotide biosynthetic process|quinolinate biosynthetic process|response to cadmium ion|response to zinc ion|tryptophan catabolic process cytosol|soluble fraction 3-hydroxyanthranilate 3,4-dioxygenase activity|electron carrier activity|ferrous iron binding breast(2)|cervix(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|urinary_tract(2) 11 GCTGCCTTGCCCATAGGCGAT 0.617000 52 99 0 0 1 0 0 GHR 2690 broad.mit.edu 37 5 42695019 42695019 + Splice_Site SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:42695019G>A ENST00000230882.4 + 5 457 c.266_splice c.e5-1 p.R89_splice GHR_ENST00000357703.3_Splice_Site_p.R67_splice|GHR_ENST00000537449.1_5'UTR NM_000163.4|NM_001242399.2|NM_001242400.2|NM_001242401.3|NM_001242402.2|NM_001242403.2|NM_001242404.2|NM_001242405.2|NM_001242406.2 NP_000154.1|NP_001229328.1|NP_001229329.1|NP_001229330.1|NP_001229331.1|NP_001229332.1|NP_001229333.1|NP_001229334.1|NP_001229335.1 P10912 GHR_HUMAN growth hormone receptor 89 R -> K (in LARS). 2-oxoglutarate metabolic process|activation of JAK2 kinase activity|activation of MAPK activity|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|endocytosis|fatty acid metabolic process|growth hormone receptor signaling pathway|insulin-like growth factor receptor signaling pathway|isoleucine metabolic process|JAK-STAT cascade|multicellular organismal metabolic process|oxaloacetate metabolic process|positive regulation of multicellular organism growth|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|receptor internalization|response to cycloheximide|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process cell surface|extracellular space|growth hormone receptor complex|integral to plasma membrane growth factor binding|peptide hormone binding|proline-rich region binding|protein homodimerization activity|protein kinase binding NS(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 39 Myeloproliferative disorder(839;0.00878) Pegvisomant(DB00082)|Somatropin recombinant(DB00052) TTCATTTTAGGAACactcaag 0.353000 8 43 0 0 1 0 0 OR2F1 26211 broad.mit.edu 37 7 143657528 143657528 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:143657528C>T ENST00000392899.1 + 1 502 c.465C>T c.(463-465)agC>agT p.S155S NM_012369.2 NP_036501.2 Q13607 OR2F1_HUMAN olfactory receptor, family 2, subfamily F, member 1 (gene/pseudogene) 155 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|skin(4) 34 Melanoma(164;0.0903) GCTTCATCAGCTCTCCTGTGC 0.527000 52 118 0 0 1 0 0 GBP4 115361 broad.mit.edu 37 1 89662928 89662928 + Missense_Mutation SNP C C T rs143237823 TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:89662928C>T ENST00000355754.6 - 2 197 c.100G>A c.(100-102)Gag>Aag p.E34K NM_052941.4 NP_443173.2 Q96PP9 GBP4_HUMAN guanylate binding protein 4 34 cytoplasm GTP binding|GTPase activity central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(19)|skin(1)|stomach(2)|urinary_tract(1) 33 all cancers(265;0.00723)|Epithelial(280;0.0291) GTCAGCTGCTCTTCCTGGTTT 0.438000 42 75 0 0 1 0 0 TBC1D22B 55633 broad.mit.edu 37 6 37250720 37250720 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:37250720C>T ENST00000373491.3 + 5 810 c.664C>T c.(664-666)Ctc>Ttc p.L222F NM_017772.2 NP_060242.2 Q9NU19 TB22B_HUMAN TBC1 domain family, member 22B 222 Rab-GAP TBC. intracellular Rab GTPase activator activity breast(1)|endometrium(1)|large_intestine(2)|lung(10)|prostate(1) 15 OV - Ovarian serous cystadenocarcinoma(102;0.241) AACCTGGAGACTCCTGTCGGT 0.488000 35 37 0 0 1 0 0 KCNQ3 3786 broad.mit.edu 37 8 133141815 133141815 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:133141815C>T ENST00000388996.4 - 15 2733 c.2313G>A c.(2311-2313)tcG>tcA p.S771S KCNQ3_ENST00000519445.1_Silent_p.S759S|KCNQ3_ENST00000521134.1_Silent_p.S651S NM_004519.3 NP_004510.1 O43525 KCNQ3_HUMAN potassium voltage-gated channel, KQT-like subfamily, member 3 771 axon guidance|synaptic transmission voltage-gated potassium channel complex voltage-gated potassium channel activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 70 Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000311) AGATTCGGTCCGAGTAGGGGC 0.607000 4 67 0 0 1 0 0 HEXDC 284004 broad.mit.edu 37 17 80395077 80395077 + Missense_Mutation SNP T T A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:80395077T>A ENST00000337014.6 + 8 1211 c.737T>A c.(736-738)tTt>tAt p.F246Y HEXDC_ENST00000327949.9_Missense_Mutation_p.F246Y|HEXDC_ENST00000577944.1_Missense_Mutation_p.F246Y NM_173620.2 NP_775891.2 Q8WVB3 HEXDC_HUMAN hexosaminidase (glycosyl hydrolase family 20, catalytic domain) containing 246 carbohydrate metabolic process cytoplasm|nucleus beta-N-acetylhexosaminidase activity|cation binding breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1) 16 Breast(20;0.00106)|all_neural(118;0.0804) OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369) CGGTGCGGCTTTCCGCAGCTG 0.667000 117 387 0 0 1 0 0 GTSF1L 149699 broad.mit.edu 37 20 42355288 42355288 + Missense_Mutation SNP C C T rs138384319 TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr20:42355288C>T ENST00000373003.1 - 1 350 c.47G>A c.(46-48)cGa>cAa p.R16Q GTSF1L_ENST00000373005.2_Missense_Mutation_p.R16Q NM_001008901.1|NM_176791.3 NP_001008901.1|NP_789761.1 Q9H1H1 GTSFL_HUMAN gametocyte specific factor 1-like 16 metal ion binding endometrium(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1) 5 Myeloproliferative disorder(115;0.00452) COAD - Colon adenocarcinoma(18;0.0031) GAGTGGGATTCGGTGGTGAGG 0.488000 14 190 0 0 1 0 0 WDR6 11180 broad.mit.edu 37 3 49050427 49050427 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:49050427C>T ENST00000395474.3 + 2 1830 c.1550C>T c.(1549-1551)cCc>cTc p.P517L WDR6_ENST00000415265.2_Intron|WDR6_ENST00000448293.1_Missense_Mutation_p.P436L|WDR6_ENST00000489684.1_Intron NM_018031.3 NP_060501.3 Q9NNW5 WDR6_HUMAN WD repeat domain 6 487 cell cycle arrest|negative regulation of cell proliferation cytoplasm breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 26 Kidney(197;9.12e-07)|KIRC - Kidney renal clear cell carcinoma(197;1.32e-05)|BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000155) TACCTGCTGCCCCCAAGCAAG 0.617000 27 58 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9087657 9087657 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:9087657G>A ENST00000397910.4 - 1 4361 c.4158C>T c.(4156-4158)atC>atT p.I1386I NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 1386 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 TTGTGTCTGTGATGGTCCATG 0.468000 41 80 0 0 1 0 0 PRKAR2A 5576 broad.mit.edu 37 3 48810501 48810501 + Missense_Mutation SNP G G A rs147886817 TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:48810501G>A ENST00000265563.8 - 6 832 c.583C>T c.(583-585)Cgc>Tgc p.R195C PRKAR2A_ENST00000454963.1_Missense_Mutation_p.R195C|PRKAR2A_ENST00000296446.8_Missense_Mutation_p.R195C NM_004157.2 NP_004148.1 P13861 KAP2_HUMAN protein kinase, cAMP-dependent, regulatory, type II, alpha 195 activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|intracellular signal transduction|nerve growth factor receptor signaling pathway|regulation of insulin secretion|transmembrane transport|water transport centrosome|cytosol|membrane fraction cAMP binding|cAMP-dependent protein kinase regulator activity SLC26A6/PRKAR2A(2) breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|ovary(1) 6 BRCA - Breast invasive adenocarcinoma(193;0.000176)|Kidney(197;0.00246)|KIRC - Kidney renal clear cell carcinoma(197;0.00261) CCAACAGAGCGGGTTTGATTA 0.383000 33 87 0 0 1 0 0 LPHN3 23284 broad.mit.edu 37 4 62845343 62845343 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:62845343C>T ENST00000512091.1 + 17 3411 c.2664C>T c.(2662-2664)tcC>tcT p.S888S LPHN3_ENST00000511324.1_Silent_p.S956S|LPHN3_ENST00000506746.1_Silent_p.S956S|LPHN3_ENST00000514157.1_Silent_p.S888S|LPHN3_ENST00000507164.1_Silent_p.S956S|LPHN3_ENST00000508946.1_Silent_p.S888S|LPHN3_ENST00000507625.1_Silent_p.S956S|LPHN3_ENST00000545650.1_Silent_p.S888S|LPHN3_ENST00000514996.1_Silent_p.S888S|LPHN3_ENST00000514591.1_Silent_p.S888S|LPHN3_ENST00000506720.1_Silent_p.S956S|LPHN3_ENST00000504896.1_Silent_p.S888S|LPHN3_ENST00000509896.1_Silent_p.S956S|LPHN3_ENST00000506700.1_Silent_p.S888S|LPHN3_ENST00000508693.1_Silent_p.S956S Q9HAR2 LPHN3_HUMAN latrophilin 3 875 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|sugar binding breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1) 125 TTTTGCTGTCCCTTGTTTGTC 0.473000 73 205 0 0 1 0 0 PHACTR4 65979 broad.mit.edu 37 1 28818192 28818192 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:28818192C>T ENST00000373839.3 + 12 2170 c.1909C>T c.(1909-1911)Ctt>Ttt p.L637F PHACTR4_ENST00000493669.1_3'UTR|PHACTR4_ENST00000373836.3_Missense_Mutation_p.L647F NM_001048183.1 NP_001041648.1 Q8IZ21 PHAR4_HUMAN phosphatase and actin regulator 4 637 actin binding|protein phosphatase inhibitor activity NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(1) 32 Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;7.01e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261) OV - Ovarian serous cystadenocarcinoma(117;1.35e-21)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0144)|READ - Rectum adenocarcinoma(331;0.0649) CGCTGAACTCCTTGCCAGGAA 0.468000 59 108 0 0 1 0 0 NUP210L 91181 broad.mit.edu 37 1 154061998 154061998 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:154061998G>A ENST00000368559.3 - 16 2331 c.2260C>T c.(2260-2262)Cgc>Tgc p.R754C NUP210L_ENST00000271854.3_Missense_Mutation_p.R754C NM_207308.2 NP_997191.2 Q5VU65 P210L_HUMAN nucleoporin 210kDa-like 754 integral to membrane NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2) 80 all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128) LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198) CAAATGAAGCGAACCTGCAAA 0.498000 64 165 0 0 1 0 0 KPTN 11133 broad.mit.edu 37 19 47980154 47980154 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:47980154G>A ENST00000338134.3 - 10 1012 c.905C>T c.(904-906)cCc>cTc p.P302L KPTN_ENST00000536339.1_Missense_Mutation_p.P62L NM_007059.2 NP_008990.2 Q9Y664 KPTN_HUMAN kaptin (actin binding protein) 302 actin filament organization|cellular component movement|sensory perception of sound actin cytoskeleton|growth cone|microtubule organizing center|nucleus|perinuclear region of cytoplasm|stereocilium actin binding breast(1)|lung(3)|ovary(2)|pancreas(2) 8 all_cancers(25;1.55e-10)|all_epithelial(76;3.4e-08)|all_lung(116;1.73e-07)|Lung NSC(112;3.95e-07)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503) OV - Ovarian serous cystadenocarcinoma(262;0.000428)|all cancers(93;0.000631)|Epithelial(262;0.0153)|GBM - Glioblastoma multiforme(486;0.0694) GTCACTGCCGGGCAGGAGAAG 0.597000 3 9 0 0 1 0 0 GRIA2 2891 broad.mit.edu 37 4 158233903 158233903 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:158233903G>A ENST00000296526.7 + 4 867 c.542G>A c.(541-543)gGa>gAa p.G181E GRIA2_ENST00000393815.2_Missense_Mutation_p.G134E|GRIA2_ENST00000264426.9_Missense_Mutation_p.G181E|GRIA2_ENST00000449365.1_Missense_Mutation_p.G134E|GRIA2_ENST00000507898.1_Missense_Mutation_p.G134E NM_000826.3 NP_000817.2 P42262 GRIA2_HUMAN glutamate receptor, ionotropic, AMPA 2 181 synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 79 all_hematologic(180;0.24) Renal(120;0.0458) COAD - Colon adenocarcinoma(41;0.0294) L-Glutamic Acid(DB00142) ATCAATGTGGGAAACATTAAC 0.408000 7 84 0 0 1 0 0 TSHB 7252 broad.mit.edu 37 1 115576618 115576618 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:115576618C>T ENST00000256592.1 + 3 255 c.187C>T c.(187-189)Ccc>Tcc p.P63S TSHB_ENST00000369517.1_Missense_Mutation_p.P63S NM_000549.3|NM_001277991.1 NP_000540.2|NP_001264920.1 P01222 TSHB_HUMAN thyroid stimulating hormone, beta 63 anatomical structure morphogenesis|cell-cell signaling|cellular nitrogen compound metabolic process|G-protein coupled receptor protein signaling pathway|hormone biosynthetic process|peptide hormone processing extracellular region hormone activity breast(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1) 7 Lung SC(450;0.211) all_cancers(81;3.22e-07)|all_epithelial(167;1.4e-06)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179) ACTGTTTCTTCCCAAATATGC 0.383000 57 190 0 0 1 0 0 DLL3 10683 broad.mit.edu 37 19 39995876 39995876 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:39995876C>T ENST00000205143.4 + 6 885 c.878C>T c.(877-879)cCc>cTc p.P293L DLL3_ENST00000356433.5_Missense_Mutation_p.P293L NM_016941.3 NP_058637.1 Q9NYJ7 DLL3_HUMAN delta-like 3 (Drosophila) 293 EGF-like 2. Notch signaling pathway|skeletal system development integral to membrane Notch binding breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(7) 19 all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159) Epithelial(26;5.89e-26)|all cancers(26;1.96e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657) CAGGAGACACCCAGGTCCTTT 0.592000 40 77 0 0 1 0 0 CPAMD8 27151 broad.mit.edu 37 19 17039857 17039857 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:17039857G>A ENST00000443236.1 - 24 3211 c.3180C>T c.(3178-3180)tcC>tcT p.S1060S NM_015692.2 NP_056507.2 Q8IZJ3 CPMD8_HUMAN C3 and PZP-like, alpha-2-macroglobulin domain containing 8 1013 extracellular space|plasma membrane serine-type endopeptidase inhibitor activity breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5) 82 TCTTGCTGGTGGAGATCCATG 0.582000 23 34 0 0 1 0 0 RADIL 55698 broad.mit.edu 37 7 4876221 4876221 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:4876221G>A ENST00000399583.3 - 3 738 c.551C>T c.(550-552)gCc>gTc p.A184V RADIL_ENST00000536091.1_Missense_Mutation_p.A184V|RADIL_ENST00000538469.1_5'UTR NM_018059.4 NP_060529.4 Q96JH8 RADIL_HUMAN Ras association and DIL domains 184 cell adhesion|multicellular organismal development|signal transduction protein binding NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 Ovarian(82;0.0175) UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15) CAGCCTCCGGGCCTGGGCGTT 0.652000 24 47 0 0 1 0 0 PILRA 29992 broad.mit.edu 37 7 99997546 99997546 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:99997546C>T ENST00000453419.1 + 6 870 c.671C>T c.(670-672)tCt>tTt p.S224F PILRA_ENST00000198536.2_3'UTR|PILRA_ENST00000394000.2_3'UTR|PILRA_ENST00000350573.2_3'UTR NM_178272.1 NP_840056.1 Q9UKJ1 PILRA_HUMAN paired immunoglobin-like type 2 receptor alpha 0 interspecies interaction between organisms extracellular region|integral to membrane|plasma membrane protein binding|receptor activity endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1) 15 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) GGACAGCCCTCTCAAGACTGA 0.582000 49 159 0 0 1 0 0 ADAMTS3 9508 broad.mit.edu 37 4 73161472 73161472 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:73161472C>T ENST00000286657.4 - 19 2658 c.2622G>A c.(2620-2622)agG>agA p.R874R NM_014243.2 NP_055058.2 O15072 ATS3_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 3 874 TSP type-1 2. collagen catabolic process|collagen fibril organization|proteolysis proteinaceous extracellular matrix heparin binding|metalloendopeptidase activity|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 76 Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) TATCACTTTTCCTACGGCATC 0.373000 9 149 0 0 1 0 0 ZNF765 91661 broad.mit.edu 37 19 53905375 53905375 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:53905375C>T ENST00000396408.3 + 3 190 c.73C>T c.(73-75)Ctg>Ttg p.L25L ZNF765_ENST00000594030.1_Silent_p.L25L NM_001040185.1 NP_001035275.1 Q7L2R6 ZN765_HUMAN zinc finger protein 765 25 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|lung(3) 4 GBM - Glioblastoma multiforme(134;0.00379) GTGGAAATGCCTGGACCCTGC 0.493000 19 150 0 0 1 0 0 GAP43 2596 broad.mit.edu 37 3 115395315 115395315 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:115395315G>A ENST00000393780.3 + 3 1062 c.594G>A c.(592-594)aaG>aaA p.K198K GAP43_ENST00000305124.6_Silent_p.K162K NM_001130064.1 NP_001123536.1 P17677 NEUM_HUMAN growth associated protein 43 162 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell differentiation|nervous system development|regulation of filopodium assembly|regulation of growth|response to wounding cell junction|filopodium membrane|growth cone membrane|synapse calmodulin binding endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 32 GBM - Glioblastoma multiforme(114;0.164) CCCCAGCCAAGGAGGAGCCTA 0.602000 4 72 0 0 1 0 0 CASC1 55259 broad.mit.edu 37 12 25261751 25261751 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:25261751C>T ENST00000395990.2 - 17 2019 c.1762G>A c.(1762-1764)Gaa>Aaa p.E588K CASC1_ENST00000395987.3_Missense_Mutation_p.E634K|CASC1_ENST00000354189.5_Intron|CASC1_ENST00000320267.9_Missense_Mutation_p.E628K|CASC1_ENST00000537577.1_Intron|CASC1_ENST00000545133.1_Missense_Mutation_p.E569K NM_001204102.1 NP_001191031.1 Q6TDU7 CASC1_HUMAN cancer susceptibility candidate 1 628 breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(3)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 31 Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Melanoma(3;0.0301)|Colorectal(261;0.11) OV - Ovarian serous cystadenocarcinoma(3;7.42e-20)|Epithelial(3;7.58e-16)|all cancers(3;1.07e-13) GTAAGGTGTTCCCTCACCTAA 0.363000 13 21 0 0 1 0 0 CIC 23152 broad.mit.edu 37 19 42794640 42794640 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:42794640C>T ENST00000572681.2 + 11 4515 c.4447C>T c.(4447-4449)Cca>Tca p.P1483S CIC_ENST00000160740.3_Missense_Mutation_p.P574S|CIC_ENST00000575354.2_Missense_Mutation_p.P574S Q96RK0 CIC_HUMAN capicua transcriptional repressor 574 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 82 Prostate(69;0.00682) CCTACGGCCCCCACCCCCTGG 0.667000 """Mis, F, S""" oligodendroglioma 61 95 0 0 1 0 0 BCLAF1 9774 broad.mit.edu 37 6 136589409 136589409 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:136589409G>A ENST00000531224.1 - 10 2540 c.2288C>T c.(2287-2289)tCt>tTt p.S763F BCLAF1_ENST00000527536.1_Missense_Mutation_p.S763F|BCLAF1_ENST00000530767.1_Missense_Mutation_p.S590F|BCLAF1_ENST00000392348.2_Missense_Mutation_p.S761F|BCLAF1_ENST00000527759.1_Missense_Mutation_p.S761F|BCLAF1_ENST00000353331.4_Missense_Mutation_p.S761F|BCLAF1_ENST00000529917.1_5'UTR|BCLAF1_ENST00000031135.9_5'UTR NM_001077441.1|NM_014739.2 NP_001070909.1|NP_055554.1 Q9NYF8 BCLF1_HUMAN BCL2-associated transcription factor 1 763 Poly-Ser. induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus DNA binding|protein binding haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1) 9 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331) TTCTTCTCGAGAACTGGGAGA 0.378000 26 146 0 0 1 0 0 OR10H1 26539 broad.mit.edu 37 19 15918812 15918812 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:15918812G>A ENST00000334920.2 - 1 124 c.36C>T c.(34-36)ttC>ttT p.F12F NM_013940.2 NP_039228.1 Q9Y4A9 O10H1_HUMAN olfactory receptor, family 10, subfamily H, member 1 12 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|skin(2)|urinary_tract(1) 29 CGACGAGGATGAATTGGGTCA 0.537000 54 104 0 0 1 0 0 ANO3 63982 broad.mit.edu 37 11 26484648 26484648 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:26484648G>A ENST00000256737.3 + 4 1237 c.385G>A c.(385-387)Gac>Aac p.D129N ANO3_ENST00000525139.1_Missense_Mutation_p.D113N|ANO3_ENST00000537978.1_Missense_Mutation_p.D113N|ANO3_ENST00000531646.1_Missense_Mutation_p.D129N NM_031418.2 NP_113606.2 Q9BYT9 ANO3_HUMAN anoctamin 3 129 chloride channel complex chloride channel activity breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 68 TCTCATTAATGACTTTGTTAT 0.303000 20 37 0 0 1 0 0 OXTR 5021 broad.mit.edu 37 3 8794800 8794800 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:8794800G>A ENST00000316793.3 - 4 1657 c.1033C>T c.(1033-1035)Ctg>Ttg p.L345L CAV3_ENST00000472766.1_Intron NM_000916.3 NP_000907.2 P30559 OXYR_HUMAN oxytocin receptor 345 female pregnancy|lactation|muscle contraction integral to plasma membrane oxytocin receptor activity|vasopressin receptor activity NS(1)|endometrium(2)|large_intestine(4)|lung(5)|urinary_tract(1) 13 OV - Ovarian serous cystadenocarcinoma(96;0.15) Carbetocin(DB01282) GAGCAGCACAGGAAGCGCTGC 0.597000 38 81 0 0 1 0 0 NCAM1 4684 broad.mit.edu 37 11 113075055 113075055 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:113075055G>A ENST00000316851.7 + 2 145 c.145G>A c.(145-147)Gga>Aga p.G49R NCAM1_ENST00000397957.4_3'UTR|NCAM1_ENST00000533760.1_5'UTR|NCAM1_ENST00000401611.2_Missense_Mutation_p.G58R NM_001242607.1|NM_181351.4 NP_001229536.1|NP_851996.2 P13591 NCAM1_HUMAN neural cell adhesion molecule 1 59 Ig-like C2-type 1. axon guidance|interferon-gamma-mediated signaling pathway anchored to membrane|extracellular region|Golgi membrane|integral to membrane breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1) 49 all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207) BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212) CTCCCCCAATGGAGAAAAGCT 0.473000 14 11 0 0 1 0 0 ZNF804A 91752 broad.mit.edu 37 2 185802121 185802121 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:185802121C>T ENST00000302277.6 + 4 2592 c.1998C>T c.(1996-1998)tcC>tcT p.S666S NM_194250.1 NP_919226.1 Q7Z570 Z804A_HUMAN zinc finger protein 804A 666 intracellular zinc ion binding NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1) 146 AATCCATATCCTTAAGTGACA 0.318000 36 103 0 0 1 0 0 SNRPB2 6629 broad.mit.edu 37 20 16721044 16721044 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr20:16721044C>T ENST00000246071.6 + 6 720 c.504C>T c.(502-504)tcC>tcT p.S168S SNRPB2_ENST00000377943.5_Silent_p.S168S NM_003092.4 NP_003083.1 P08579 RU2B_HUMAN small nuclear ribonucleoprotein polypeptide B 168 RRM 2. catalytic step 2 spliceosome|nucleoplasm|U2 snRNP nucleotide binding|protein binding|RNA binding large_intestine(2)|lung(2)|urinary_tract(1) 5 TGATGTTATCCATGCTGTTTA 0.343000 4 129 0 0 1 0 0 RP1 6101 broad.mit.edu 37 8 55539216 55539216 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:55539216C>T ENST00000220676.1 + 4 2922 c.2774C>T c.(2773-2775)cCa>cTa p.P925L NM_006269.1 NP_006260.1 P56715 RP1_HUMAN retinitis pigmentosa 1 (autosomal dominant) 925 axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment microtubule binding NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2) 169 all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123) OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285) AACATAAATCCATATCCAACT 0.333000 34 51 0 0 1 0 0 FCGBP 8857 broad.mit.edu 37 19 40408636 40408636 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:40408636G>A ENST00000221347.6 - 8 4210 c.4203C>T c.(4201-4203)ttC>ttT p.F1401F NM_003890.2 NP_003881.2 Q9Y6R7 FCGBP_HUMAN Fc fragment of IgG binding protein 1401 VWFD 3. extracellular region protein binding NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3) 165 all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06) Epithelial(26;6.25e-23)|all cancers(26;1.13e-20) TGGGCTTCTGGAAGTCATCCT 0.612000 6 173 0 0 1 0 0 DYNC1H1 1778 broad.mit.edu 37 14 102446865 102446865 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr14:102446865C>T ENST00000360184.4 + 5 1103 c.939C>T c.(937-939)acC>acT p.T313T NM_001376.4 NP_001367.2 Q14204 DYHC1_HUMAN dynein, cytoplasmic 1, heavy chain 1 313 Stem (By similarity). cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 166 TCCATGCCACCGTCAGTTTTG 0.428000 13 35 0 0 1 0 0 SLC6A13 6540 broad.mit.edu 37 12 346339 346339 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:346339C>T ENST00000343164.4 - 6 733 c.681G>A c.(679-681)gtG>gtA p.V227V SLC6A13_ENST00000445055.2_Silent_p.V135V NM_016615.4 NP_057699.2 Q9NSD5 S6A13_HUMAN solute carrier family 6 (neurotransmitter transporter), member 13 227 neurotransmitter secretion integral to plasma membrane gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(1) 28 all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142) OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239) CTGTGGACTTCACCCCCTTCC 0.637000 54 126 0 0 1 0 0 MAGEC1 9947 broad.mit.edu 37 X 140996554 140996554 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chrX:140996554G>A ENST00000285879.4 + 4 3650 c.3364G>A c.(3364-3366)Gat>Aat p.D1122N MAGEC1_ENST00000406005.2_Missense_Mutation_p.D189N NM_005462.4 NP_005453.2 O60732 MAGC1_HUMAN melanoma antigen family C, 1 1122 protein binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1) 127 Acute lymphoblastic leukemia(192;6.56e-05) TGACACCACAGATGATTCGAC 0.483000 HNSCC(15;0.026) 20 73 0 0 1 0 0 ACRBP 84519 broad.mit.edu 37 12 6749558 6749558 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:6749558G>A ENST00000229243.2 - 7 1301 c.1208C>T c.(1207-1209)cCc>cTc p.P403L ACRBP_ENST00000542357.1_5'UTR|ACRBP_ENST00000414226.2_Missense_Mutation_p.P370L NM_032489.2 NP_115878.2 Q8NEB7 ACRBP_HUMAN acrosin binding protein 403 acrosomal vesicle|extracellular region NS(1)|breast(1)|central_nervous_system(1)|large_intestine(8)|lung(5)|ovary(1) 17 GCTGACAAAGGGAGTCTTGTG 0.617000 19 46 0 0 1 0 0 PSG6 5675 broad.mit.edu 37 19 43412005 43412005 + Splice_Site SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:43412005C>T ENST00000187910.2 - 4 773 c.706_splice c.e4-1 p.P236_splice PSG6_ENST00000402603.4_Intron|PSG6_ENST00000292125.2_Splice_Site_p.P236_splice NM_001031850.3 NP_001027020.1 pregnancy specific beta-1-glycoprotein 6 central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(19)|ovary(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2) 44 Prostate(69;0.00899) TGGGCAGCTTCGCTGTGTGGA 0.493000 92 158 0 0 1 0 0 SCN3A 6328 broad.mit.edu 37 2 166011048 166011048 + Nonsense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:166011048G>A ENST00000360093.3 - 11 1785 c.1294C>T c.(1294-1296)Cag>Tag p.Q432* SCN3A_ENST00000283254.7_Nonsense_Mutation_p.Q432*|SCN3A_ENST00000409101.3_Nonsense_Mutation_p.Q432* NM_001081677.1 NP_001075146.1 Q9NY46 SCN3A_HUMAN sodium channel, voltage-gated, type III, alpha subunit 432 voltage-gated sodium channel complex voltage-gated sodium channel activity NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3) 120 Lamotrigine(DB00555) AAGGTGGCCTGATTCTGCTCC 0.433000 39 92 0 0 1 0 0 DMD 1756 broad.mit.edu 37 X 31196868 31196868 + Nonsense_Mutation SNP G G A rs104894790 TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chrX:31196868G>A ENST00000357033.4 - 70 10347 c.10141C>T c.(10141-10143)Cga>Tga p.R3381* DMD_ENST00000474231.1_Nonsense_Mutation_p.R921*|DMD_ENST00000378680.2_Nonsense_Mutation_p.R313*|DMD_ENST00000378702.4_Nonsense_Mutation_p.R313*|DMD_ENST00000361471.4_Nonsense_Mutation_p.R313*|DMD_ENST00000378707.3_Nonsense_Mutation_p.R921*|DMD_ENST00000343523.2_Nonsense_Mutation_p.R921*|DMD_ENST00000359836.1_Nonsense_Mutation_p.R921*|DMD_ENST00000378723.3_Nonsense_Mutation_p.R313*|DMD_ENST00000378677.2_Nonsense_Mutation_p.R3377*|DMD_ENST00000541735.1_Nonsense_Mutation_p.R921* NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2 NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1 P11532 DMD_HUMAN dystrophin 3381 Interaction with SYNM (By similarity). muscle filament sliding|peptide biosynthetic process cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2) 77 all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203) CTTTTGGTTCGAAATTTGTTT 0.438000 41 28 0 0 1 0 0 PLCD1 5333 broad.mit.edu 37 3 38065833 38065833 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:38065833C>T ENST00000463876.1 - 1 445 c.92G>A c.(91-93)aGg>aAg p.R31K PLCD1_ENST00000334661.4_Intron NM_001130964.1 NP_001124436.1 P51178 PLCD1_HUMAN phospholipase C, delta 1 0 PH.|Substrate binding (By similarity). intracellular signal transduction|lipid catabolic process|phospholipid metabolic process cytoplasm calcium ion binding|GTPase activating protein binding|phosphatidylinositol phospholipase C activity|signal transducer activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(6)|prostate(1)|skin(1) 24 KIRC - Kidney renal clear cell carcinoma(284;0.0519)|Kidney(284;0.0653) CTTACCCAGCCTCCGTCCATT 0.667000 14 33 0 0 1 0 0 SH2D3C 10044 broad.mit.edu 37 9 130502556 130502556 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:130502556C>T ENST00000314830.8 - 10 2294 c.2181G>A c.(2179-2181)aaG>aaA p.K727K SH2D3C_ENST00000420366.1_Silent_p.K569K|SH2D3C_ENST00000373276.3_Silent_p.K659K|SH2D3C_ENST00000429553.1_Silent_p.K373K|SH2D3C_ENST00000373277.4_Silent_p.K570K|SH2D3C_ENST00000373274.3_Silent_p.K567K NM_170600.2 NP_733745.1 Q8N5H7 SH2D3_HUMAN SH2 domain containing 3C 727 Ras-GEF. JNK cascade|small GTPase mediated signal transduction cytoplasm|membrane guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 CGTTGAGGCTCTTGAGAAAAG 0.572000 7 134 0 0 1 0 0 SLC36A1 206358 broad.mit.edu 37 5 150847332 150847332 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:150847332C>T ENST00000243389.3 + 7 792 c.569C>T c.(568-570)cCt>cTt p.P190L SLC36A1_ENST00000520701.1_Missense_Mutation_p.P190L|SLC36A1_ENST00000429484.2_Missense_Mutation_p.P190L|SLC36A1_ENST00000521925.1_Missense_Mutation_p.P190L NM_078483.2 NP_510968.2 Q7Z2H8 S36A1_HUMAN solute carrier family 36 (proton/amino acid symporter), member 1 190 cellular nitrogen compound metabolic process|ion transport endoplasmic reticulum|integral to membrane|lysosomal membrane|plasma membrane amino acid transmembrane transporter activity|symporter activity endometrium(5)|kidney(9)|lung(8)|skin(2)|urinary_tract(1) 25 Medulloblastoma(196;0.091)|all_hematologic(541;0.103)|all_neural(839;0.138) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) Glycine(DB00145)|L-Alanine(DB00160) ATTCTGACGCCTACCATGGAC 0.532000 49 106 0 0 1 0 0 FRY 10129 broad.mit.edu 37 13 32811773 32811773 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr13:32811773C>T ENST00000380250.3 + 44 6564 c.6068C>T c.(6067-6069)tCc>tTc p.S2023F NM_023037.2 NP_075463.2 Q5TBA9 FRY_HUMAN furry homolog (Drosophila) 2023 regulation of transcription, DNA-dependent|transcription, DNA-dependent integral to membrane NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 132 Lung SC(185;0.0271) all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104) AGCTCATCCTCCTTGAAGGAC 0.527000 14 34 0 0 1 0 0 CAND2 23066 broad.mit.edu 37 3 12867044 12867044 + Missense_Mutation SNP T T A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:12867044T>A ENST00000456430.2 + 12 3157 c.3116T>A c.(3115-3117)gTg>gAg p.V1039E CAND2_ENST00000295989.5_Missense_Mutation_p.V922E NM_001162499.1 NP_001155971.1 O75155 CAND2_HUMAN cullin-associated and neddylation-dissociated 2 (putative) 1039 positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(8)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 AACTCAGCTGTGCACAACAAG 0.602000 5 20 0 0 1 0 0 KCNH1 3756 broad.mit.edu 37 1 210857425 210857425 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:210857425C>T ENST00000367007.4 - 11 2256 c.2087G>A c.(2086-2088)cGa>cAa p.R696Q KCNH1_ENST00000271751.4_Missense_Mutation_p.R723Q NM_002238.3|NM_172362.2 NP_002229.1|NP_758872.1 O95259 KCNH1_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 1 723 Calmodulin-binding. myoblast fusion|regulation of transcription, DNA-dependent voltage-gated potassium channel complex calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity p.R723Q(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 68 OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185) CTCATTCTTTCGTTTCATGCG 0.552000 39 65 0 0 1 0 0 KMT2C 58508 broad.mit.edu 37 7 151921545 151921545 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:151921545G>A ENST00000355193.2 - 19 3351 c.3133C>T c.(3133-3135)Ccc>Tcc p.P1045S KMT2C_ENST00000262189.6_Missense_Mutation_p.P1045S lysine (K)-specific methyltransferase 2C CCTCCTTTGGGAACTGTCTGC 0.458000 46 108 0 0 1 0 0 C16orf58 64755 broad.mit.edu 37 16 31512027 31512027 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr16:31512027G>A ENST00000327237.2 - 3 480 c.441C>T c.(439-441)atC>atT p.I147I C16orf58_ENST00000570164.1_Silent_p.I147I|C16orf58_ENST00000430477.2_Silent_p.I5I|C16orf58_ENST00000567994.1_Silent_p.I102I Q96GQ5 CP058_HUMAN chromosome 16 open reading frame 58 147 integral to membrane breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1) 14 AGGCAAAGACGATGCGGCCCA 0.537000 26 41 0 0 1 0 0 ZC3HAV1L 92092 broad.mit.edu 37 7 138713578 138713578 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:138713578G>A ENST00000275766.1 - 3 641 c.630C>T c.(628-630)tcC>tcT p.S210S NM_080660.3 NP_542391.2 Q96H79 ZCCHL_HUMAN zinc finger CCCH-type, antiviral 1-like 210 NS(2)|endometrium(2)|large_intestine(1)|lung(4)|skin(1) 10 TAAGCTGATGGGACCGTTTGC 0.423000 25 75 0 0 1 0 0 DNAI1 27019 broad.mit.edu 37 9 34512153 34512153 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:34512153C>T ENST00000242317.4 + 14 1529 c.1358C>T c.(1357-1359)tCt>tTt p.S453F NM_012144.2 NP_036276.1 Q9UI46 DNAI1_HUMAN dynein, axonemal, intermediate chain 1 453 cell projection organization cilium axoneme|cytoplasm|dynein complex|microtubule motor activity autonomic_ganglia(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|prostate(1)|skin(2)|urinary_tract(1) 34 all_epithelial(49;0.244) LUSC - Lung squamous cell carcinoma(29;0.0107)|STAD - Stomach adenocarcinoma(86;0.212) GBM - Glioblastoma multiforme(74;0.0222) AACTTCTTCTCTGTGTCATCT 0.502000 Kartagener syndrome 58 125 0 0 1 0 0 LIPH 200879 broad.mit.edu 37 3 185252826 185252826 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:185252826C>T ENST00000296252.4 - 2 285 c.144G>A c.(142-144)agG>agA p.R48R LIPH_ENST00000424591.2_Silent_p.R48R NM_139248.2 NP_640341.1 Q8WWY8 LIPH_HUMAN lipase, member H 48 lipid catabolic process extracellular space|plasma membrane heparin binding|phospholipase activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(2) 20 all_cancers(143;8.87e-11)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(80;1.31e-21) TCAGGTTTTTCCTTGTGTAGA 0.473000 6 195 0 0 1 0 0 TNC 3371 broad.mit.edu 37 9 117825446 117825446 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:117825446G>A ENST00000350763.4 - 13 4194 c.3783C>T c.(3781-3783)aaC>aaT p.N1261N TNC_ENST00000542877.1_Intron|TNC_ENST00000537320.1_Intron|TNC_ENST00000341037.4_Intron|TNC_ENST00000345230.3_Intron|TNC_ENST00000423613.2_Silent_p.N1261N|TNC_ENST00000535648.1_Intron|TNC_ENST00000340094.3_Intron|TNC_ENST00000346706.3_Intron NM_002160.3 NP_002151.2 P24821 TENA_HUMAN tenascin C 1261 Fibronectin type-III 8. cell adhesion|response to wounding|signal transduction extracellular space receptor binding|syndecan binding NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 120 TCACTGTGAGGTTTCCCATAT 0.502000 15 39 0 0 1 0 0 PRSS1 5644 broad.mit.edu 37 7 142459748 142459748 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:142459748C>T ENST00000486171.1 + 4 383 c.366C>T c.(364-366)atC>atT p.I122I PRSS1_ENST00000311737.7_Silent_p.I108I P07477 TRY1_HUMAN protease, serine, 1 (trypsin 1) 108 Peptidase S1. R -> C (in PCTT; suppresses an autocleavage site).|R -> H (in PCTT; suppresses an autocleavage site which is probably part of a fail-safe mechanism by which trypsin, which is activated within the pancreas, may be inactivated; loss of this cleavage site would permit autodigestion resulting in pancreatitis). digestion|proteolysis extracellular space metal ion binding|protein binding|serine-type endopeptidase activity central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2) 38 Melanoma(164;0.047) all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165) all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189) ACAATGACATCATGTTAATCA 0.542000 84 303 0 0 1 0 0 PLEC 5339 broad.mit.edu 37 8 144998390 144998390 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:144998390C>T ENST00000322810.4 - 31 6287 c.6118G>A c.(6118-6120)Gac>Aac p.D2040N PLEC_ENST00000356346.3_Missense_Mutation_p.D1889N|PLEC_ENST00000354589.3_Missense_Mutation_p.D1903N|PLEC_ENST00000398774.2_Missense_Mutation_p.D1871N|PLEC_ENST00000527096.1_Missense_Mutation_p.D1926N|PLEC_ENST00000436759.2_Missense_Mutation_p.D1930N|PLEC_ENST00000354958.2_Missense_Mutation_p.D1881N|PLEC_ENST00000345136.3_Missense_Mutation_p.D1903N|PLEC_ENST00000357649.2_Missense_Mutation_p.D1907N NM_201380.2 NP_958782.1 Q15149 PLEC_HUMAN plectin 2040 Central fibrous rod domain. cellular component disassembly involved in apoptosis|hemidesmosome assembly cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma actin binding|structural constituent of muscle p.D2040Y(1) NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10) 137 AGCTCGCTGTCCGATGCCTTG 0.697000 25 47 0 0 1 0 0 MED14 9282 broad.mit.edu 37 X 40539330 40539330 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chrX:40539330G>A ENST00000324817.1 - 21 2784 c.2666C>T c.(2665-2667)cCg>cTg p.P889L MED14_ENST00000496531.1_Intron NM_004229.3 NP_004220.2 O60244 MED14_HUMAN mediator complex subunit 14 889 androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding NS(2)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 GCCCAACATCGGCACAGTGGG 0.478000 22 30 0 0 1 0 0 ZPBP2 124626 broad.mit.edu 37 17 38031517 38031517 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:38031517G>A ENST00000377940.3 + 6 792 c.653G>A c.(652-654)cGa>cAa p.R218Q ZPBP2_ENST00000348931.4_Missense_Mutation_p.R240Q|ZPBP2_ENST00000584588.1_Missense_Mutation_p.R167Q NM_198844.2 NP_942141.2 Q6X784 ZPBP2_HUMAN zona pellucida binding protein 2 240 binding of sperm to zona pellucida extracellular region kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 15 Colorectal(19;0.000442) Lung(15;0.00849)|LUSC - Lung squamous cell carcinoma(15;0.171) GCAAGAGATCGAATAGAAGAC 0.353000 34 62 0 0 1 0 0 ERG 2078 broad.mit.edu 37 21 39755735 39755735 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr21:39755735G>A ENST00000442448.1 - 11 1250 c.979C>T c.(979-981)Ccc>Tcc p.P327S ERG_ENST00000417133.2_Missense_Mutation_p.P351S|ERG_ENST00000398907.1_Missense_Mutation_p.P321S|ERG_ENST00000288319.7_Missense_Mutation_p.P344S|ERG_ENST00000398919.2_Missense_Mutation_p.P351S|ERG_ENST00000453032.2_Missense_Mutation_p.P252S|ERG_ENST00000398911.1_Missense_Mutation_p.P327S|ERG_ENST00000398910.1_Missense_Mutation_p.P328S|ERG_ENST00000398905.1_Missense_Mutation_p.P320S|ERG_ENST00000398897.1_Missense_Mutation_p.P228S NM_004449.4 NP_004440.1 P11308 ERG_HUMAN v-ets avian erythroblastosis virus E26 oncogene homolog 351 cell proliferation|multicellular organismal development|protein phosphorylation cytoplasm|nucleus|ribonucleoprotein complex protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity EWSR1/ERG(178)|NDRG1/ERG(5)|TMPRSS2/ERG(3582)|FUS/ERG(167)|SLC45A3/ERG(50) lung(2)|ovary(1)|skin(1) 4 Prostate(19;3.6e-06) ACCTCGTCGGGATCCGTCATC 0.582000 T """EWSR1, TMPRSS2, ELF4, FUS, HERPUD1, NDRG1""" """Ewing sarcoma, prostate, AML""" 30 98 0 0 1 0 0 ESRP1 54845 broad.mit.edu 37 8 95654294 95654294 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:95654294G>A ENST00000433389.2 + 2 433 c.243G>A c.(241-243)ctG>ctA p.L81L ESRP1_ENST00000454170.2_Silent_p.L81L|ESRP1_ENST00000358397.5_Silent_p.L81L|ESRP1_ENST00000423620.2_Silent_p.L81L NM_001034915.2|NM_017697.3 NP_001030087.2|NP_060167.2 Q6NXG1 ESRP1_HUMAN epithelial splicing regulatory protein 1 81 mRNA processing|regulation of RNA splicing|RNA splicing nucleus|plasma membrane mRNA binding|nucleotide binding ESRP1/RAF1(4) NS(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(2) 20 CGTCGCAGCTGGACCAAGCCC 0.627000 19 91 0 0 1 0 0 OR51B4 79339 broad.mit.edu 37 11 5322305 5322305 + Missense_Mutation SNP A A G TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:5322305A>G ENST00000380224.1 - 1 921 c.872T>C c.(871-873)aTc>aCc p.I291T HBG2_ENST00000380252.1_Intron|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380259.2_Intron NM_033179.2 NP_149419.2 Q9Y5P0 O51B4_HUMAN olfactory receptor, family 51, subfamily B, member 4 291 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 20 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) CTTGGTCTTGATGCTATAAAT 0.423000 37 38 0 0 1 0 0 OPLAH 26873 broad.mit.edu 37 8 145112537 145112537 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:145112537C>T ENST00000426825.1 - 10 1317 c.1236G>A c.(1234-1236)ccG>ccA p.P412P OPLAH_ENST00000534424.1_5'UTR NM_017570.3 NP_060040.1 O14841 OPLA_HUMAN 5-oxoprolinase (ATP-hydrolysing) 412 5-oxoprolinase (ATP-hydrolyzing) activity|ATP binding breast(1)|central_nervous_system(1)|endometrium(1)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 20 all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) L-Glutamic Acid(DB00142) GGTTCTCTCCCGGCCCAAAAA 0.647000 19 40 0 0 1 0 0 PRR14L 253143 broad.mit.edu 37 22 32108111 32108111 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr22:32108111G>A ENST00000327423.6 - 4 5903 c.5714C>T c.(5713-5715)tCc>tTc p.S1905F PRR14L_ENST00000397493.2_Missense_Mutation_p.S1905F|PRR14L_ENST00000434485.1_Missense_Mutation_p.S1905F NM_173566.2 NP_775837.2 Q5THK1 PR14L_HUMAN proline rich 14-like 1905 endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(5)|skin(1)|urinary_tract(2) 14 GCAGTGAGGGGAATGAAGAGA 0.507000 49 97 0 0 1 0 0 SGK223 157285 broad.mit.edu 37 8 8176309 8176309 + Silent SNP G G C TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:8176309G>C ENST00000520004.1 - 6 3840 c.3576C>G c.(3574-3576)gcC>gcG p.A1192A SGK223_ENST00000330777.4_Silent_p.A1192A Q86YV5 SG223_HUMAN 1192 Protein kinase. ATP binding|non-membrane spanning protein tyrosine kinase activity AGGCGGGGCCGGCTGCGGGGC 0.771000 3 8 0 0 1 0 0 GSAP 54103 broad.mit.edu 37 7 76942809 76942809 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:76942809G>A ENST00000257626.7 - 28 2345 c.2267C>T c.(2266-2268)cCt>cTt p.P756L GSAP_ENST00000440473.1_5'UTR|GSAP_ENST00000441833.2_Missense_Mutation_p.P77L NM_017439.3 NP_059135.2 gamma-secretase activating protein TATTACCGGAGGAAGCCGCAC 0.343000 13 41 0 0 1 0 0 OR2B11 127623 broad.mit.edu 37 1 247614352 247614352 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:247614352C>T ENST00000318749.6 - 1 956 c.933G>A c.(931-933)agG>agA p.R311R NM_001004492.1 NP_001004492.1 Q5JQS5 OR2BB_HUMAN olfactory receptor, family 2, subfamily B, member 11 311 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.R311R(1) endometrium(3)|kidney(13)|large_intestine(7)|lung(31)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1) 60 all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.241) OV - Ovarian serous cystadenocarcinoma(106;0.0188) GCCTCCAGATCCTGGCCAGAA 0.453000 230 250 0 0 1 0 0 CPNE8 144402 broad.mit.edu 37 12 39161468 39161468 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:39161468G>A ENST00000331366.5 - 8 640 c.544C>T c.(544-546)Ctt>Ttt p.L182F CPNE8_ENST00000360449.3_Missense_Mutation_p.L170F NM_153634.2 NP_705898.1 Q86YQ8 CPNE8_HUMAN copine VIII 182 C2 2. NS(1)|breast(1)|endometrium(1)|large_intestine(6)|lung(6)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2) 21 Esophageal squamous(101;0.187) Lung NSC(34;0.137)|Melanoma(24;0.152)|all_lung(34;0.157) TAAAATACAAGGAAAGGATCT 0.294000 37 83 0 0 1 0 0 CLEC5A 23601 broad.mit.edu 37 7 141631569 141631569 + Missense_Mutation SNP G G A rs140946328 by1000genomes TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:141631569G>A ENST00000546910.1 - 6 599 c.403C>T c.(403-405)Cgt>Tgt p.R135C CLEC5A_ENST00000438351.1_Missense_Mutation_p.R112C|CLEC5A_ENST00000439991.1_Missense_Mutation_p.R31C|CLEC5A_ENST00000470595.1_5'UTR|MGAM_ENST00000497554.1_3'UTR|CLEC5A_ENST00000551012.2_Missense_Mutation_p.R112C NM_013252.2 NP_037384.1 Q9NY25 CLC5A_HUMAN C-type lectin domain family 5, member A 135 C-type lectin. anti-apoptosis|cellular defense response|innate immune response|interspecies interaction between organisms|osteoblast development cell surface|integral to plasma membrane sugar binding|viral receptor activity p.R135S(1) endometrium(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1) 10 Melanoma(164;0.0171) TTCTCTTCACGATGGTAAATT 0.373000 15 230 0 0 1 0 0 MAGEC1 9947 broad.mit.edu 37 X 140994883 140994883 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chrX:140994883C>T ENST00000285879.4 + 4 1979 c.1693C>T c.(1693-1695)Cct>Tct p.P565S MAGEC1_ENST00000406005.2_Intron NM_005462.4 NP_005453.2 O60732 MAGC1_HUMAN melanoma antigen family C, 1 565 protein binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1) 127 Acute lymphoblastic leukemia(192;6.56e-05) TCACTACTTTCCTCAGAGCCC 0.572000 HNSCC(15;0.026) 216 112 0 0 1 0 0 WEE2 494551 broad.mit.edu 37 7 141424967 141424967 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:141424967C>T ENST00000397541.2 + 9 1769 c.1363C>T c.(1363-1365)Ctc>Ttc p.L455F WEE2-AS1_ENST00000488785.1_RNA NM_001105558.1 NP_001099028.1 P0C1S8 WEE2_HUMAN WEE1 homolog 2 (S. pombe) 455 Protein kinase. egg activation|female meiosis|female pronucleus assembly|meiotic metaphase II|meiotic prophase I|mitosis|negative regulation of oocyte development|regulation of meiosis I centrosome|nucleus ATP binding|magnesium ion binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(2)|stomach(1) 31 Melanoma(164;0.0171) TCCTCAGGAGCTCTCAGAAAG 0.473000 31 111 0 0 1 0 0 KDM5A 5927 broad.mit.edu 37 12 404924 404924 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:404924G>A ENST00000399788.2 - 26 4632 c.4270C>T c.(4270-4272)Cct>Tct p.P1424S KDM5A_ENST00000382815.4_Missense_Mutation_p.P1424S NM_001042603.1 NP_001036068.1 P29375 KDM5A_HUMAN lysine (K)-specific demethylase 5A 1424 chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter cytoplasm|nucleolus DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2) 77 GGCACCAAAGGGCTCTTCCGA 0.428000 T NUP98 AML 69 127 0 0 1 0 0 C6orf223 221416 broad.mit.edu 37 6 43970834 43970834 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:43970834C>T ENST00000336600.5 + 4 720 c.700C>T c.(700-702)Cgc>Tgc p.R234C RP5-1120P11.1_ENST00000422059.1_RNA|C6orf223_ENST00000448947.2_3'UTR|RP5-1120P11.1_ENST00000607590.1_RNA|C6orf223_ENST00000439969.2_3'UTR NM_001171992.1|NM_153246.4 NP_001165463.1|NP_694978.2 Q8N319 CF223_HUMAN chromosome 6 open reading frame 223 234 p.R234C(1) central_nervous_system(1)|lung(2)|pancreas(1)|prostate(1)|urinary_tract(1) 6 all_cancers(18;2.28e-07)|all_epithelial(2;1.62e-08)|Lung NSC(15;0.000172)|all_lung(25;0.000533)|Hepatocellular(11;0.00309)|Ovarian(13;0.0437) all cancers(41;0.00141)|Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.217) CGCGGCGCTCCGCGGCGCTGG 0.667000 4 93 0 0 1 0 0 FGF12 2257 broad.mit.edu 37 3 191888437 191888437 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:191888437G>A ENST00000454309.2 - 4 1248 c.423C>T c.(421-423)ttC>ttT p.F141F FGF12_ENST00000445105.1_Silent_p.F79F|FGF12_ENST00000264730.3_Silent_p.F79F|FGF12_ENST00000450716.1_Silent_p.F79F|FGF12_ENST00000430714.1_Silent_p.F42F NM_021032.4 NP_066360.1 P61328 FGF12_HUMAN fibroblast growth factor 12 141 cell-cell signaling|heart development|JNK cascade|nervous system development|signal transduction extracellular space|nucleus growth factor activity|heparin binding endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1) 30 all_cancers(143;1.72e-08)|Ovarian(172;0.0634)|Breast(254;0.247) Lung NSC(153;0.21) LUSC - Lung squamous cell carcinoma(58;5.45e-06)|Lung(62;6.17e-06) GBM - Glioblastoma multiforme(46;0.00032) ATTCTGGAGTGAAAACATCCT 0.363000 61 122 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179455881 179455881 + Missense_Mutation SNP T T G TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:179455881T>G ENST00000589042.1 - 304 60795 c.60571A>C c.(60571-60573)Atc>Ctc p.I20191L TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.I11251L|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.I18550L|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.I17623L|TTN_ENST00000460472.2_Missense_Mutation_p.I11126L|TTN_ENST00000342175.6_Missense_Mutation_p.I11318L|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000419746.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 18550 Fibronectin type-III 46. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TGCCATGAGATAGTCATGTGT 0.438000 8 196 0 0 1 0 0 OR4C11 219429 broad.mit.edu 37 11 55371563 55371563 + Missense_Mutation SNP A A T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:55371563A>T ENST00000302231.4 - 1 311 c.287T>A c.(286-288)aTg>aAg p.M96K NM_001004700.2 NP_001004700.2 Q6IEV9 OR4CB_HUMAN olfactory receptor, family 4, subfamily C, member 11 96 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|prostate(1)|skin(1) 33 GACTTGTGTCATGCACTCATT 0.413000 7 137 0 0 1 0 0 ELF4 2000 broad.mit.edu 37 X 129203580 129203580 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chrX:129203580G>A ENST00000308167.5 - 8 1261 c.882C>T c.(880-882)ccC>ccT p.P294P ELF4_ENST00000335997.7_Silent_p.P294P NM_001421.3 NP_001412.1 Q99607 ELF4_HUMAN E74-like factor 4 (ets domain transcription factor) 294 MP -> IA (in Ref. 2; AAC17452). natural killer cell proliferation|NK T cell proliferation|positive regulation of transcription from RNA polymerase II promoter PML body protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 22 CCAGGTCCTTGGGCATCTCCT 0.577000 T ERG AML 81 74 0 0 1 0 0 HERC2P3 283755 broad.mit.edu 37 15 20657729 20657729 + RNA SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr15:20657729G>A ENST00000428453.1 - 0 2229 central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 35 ATCACCAGGAGGAAGTGGGCT 0.607000 14 20 0 0 1 0 0 CDK7 1022 broad.mit.edu 37 5 68558045 68558045 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:68558045C>T ENST00000502604.1 + 7 752 c.262C>T c.(262-264)Ccc>Tcc p.P88S CDK7_ENST00000514676.1_Missense_Mutation_p.P144S|CDK7_ENST00000256443.3_Missense_Mutation_p.P181S|CDK7_ENST00000513629.1_3'UTR P50613 CDK7_HUMAN cyclin-dependent kinase 7 181 Protein kinase. androgen receptor signaling pathway|cell division|cell proliferation|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|regulation of cyclin-dependent protein kinase activity|S phase of mitotic cell cycle|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction holo TFIIH complex|mitochondrion androgen receptor binding|ATP binding|cyclin-dependent protein kinase activity|DNA-dependent ATPase activity|protein C-terminus binding|RNA polymerase II carboxy-terminal domain kinase activity|transcription coactivator activity endometrium(1)|lung(2) 3 Lung NSC(167;7.26e-05)|Prostate(74;0.00634)|Ovarian(174;0.0448)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;2.98e-56)|Epithelial(20;3.54e-52)|all cancers(19;9.11e-48)|Lung(70;0.0185) GTATCGGGCCCCCGAGTTACT 0.393000 Nucleotide excision repair (NER) 67 97 0 0 1 0 0 FRMPD1 22844 broad.mit.edu 37 9 37740406 37740406 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:37740406C>T ENST00000539465.1 + 15 2474 c.1881C>T c.(1879-1881)ttC>ttT p.F627F RP11-613M10.9_ENST00000540557.1_Intron|FRMPD1_ENST00000536622.1_Silent_p.F449F|FRMPD1_ENST00000377765.3_Silent_p.F627F|FRMPD1_ENST00000541302.1_Silent_p.F496F Q5SYB0 FRPD1_HUMAN FERM and PDZ domain containing 1 627 cytoskeleton|cytosol|plasma membrane NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 93 GBM - Glioblastoma multiforme(29;0.00655) GGTCCACCTTCTTCCACTTTG 0.587000 28 52 0 0 1 0 0 CAPZA3 93661 broad.mit.edu 37 12 18891278 18891278 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:18891278G>A ENST00000317658.3 + 1 234 c.76G>A c.(76-78)Gaa>Aaa p.E26K NM_033328.2 NP_201585.1 Q96KX2 CAZA3_HUMAN capping protein (actin filament) muscle Z-line, alpha 3 26 actin cytoskeleton organization|actin filament capping F-actin capping protein complex actin binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1) 19 Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241) Hepatocellular(102;0.194) CCCTCCAGGGGAATTTGTAAA 0.458000 43 68 0 0 1 0 0 ADAD1 132612 broad.mit.edu 37 4 123317484 123317484 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:123317484G>A ENST00000296513.2 + 7 861 c.676G>A c.(676-678)Gaa>Aaa p.E226K ADAD1_ENST00000492454.1_3'UTR|ADAD1_ENST00000388724.2_Missense_Mutation_p.E226K|ADAD1_ENST00000388725.2_Missense_Mutation_p.E208K NM_139243.3 NP_640336.1 Q96M93 ADAD1_HUMAN adenosine deaminase domain containing 1 (testis-specific) 226 multicellular organismal development|RNA processing nucleus adenosine deaminase activity|double-stranded RNA binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 35 TAATCGTTCAGAATACCTGAA 0.269000 35 70 0 0 1 0 0 AXDND1 126859 broad.mit.edu 37 1 179497494 179497494 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:179497494C>T ENST00000367618.3 + 23 3030 c.2643C>T c.(2641-2643)ctC>ctT p.L881L NM_144696.4 NP_653297.3 Q5T1B0 AXDN1_HUMAN axonemal dynein light chain domain containing 1 881 Glu-rich. NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2) 59 AGGAAAAACTCATTCGATTCA 0.438000 34 71 0 0 1 0 0 RCAN1 1827 broad.mit.edu 37 21 35890552 35890552 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr21:35890552C>T ENST00000481448.1 - 5 1045 c.559G>A c.(559-561)Gaa>Aaa p.E187K RCAN1_ENST00000482533.1_Missense_Mutation_p.E62K|RCAN1_ENST00000399272.1_Missense_Mutation_p.E116K|RCAN1_ENST00000443408.2_Missense_Mutation_p.E62K|RCAN1_ENST00000313806.4_Missense_Mutation_p.E197K|RCAN1_ENST00000487990.1_Missense_Mutation_p.E62K|RCAN1_ENST00000489903.1_5'UTR|RCAN1_ENST00000381135.3_Missense_Mutation_p.E187K|RCAN1_ENST00000381132.2_Missense_Mutation_p.E142K P53805 RCAN1_HUMAN regulator of calcineurin 1 197 blood circulation|calcium-mediated signaling|central nervous system development nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity breast(1)|kidney(1)|large_intestine(1)|lung(2) 5 TCATACTTTTCCCCTAAGGAG 0.498000 17 41 0 0 1 0 0 FOLR1 2348 broad.mit.edu 37 11 71906494 71906494 + Nonsense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:71906494G>A ENST00000393679.1 + 3 784 c.348G>A c.(346-348)tgG>tgA p.W116* FOLR1_ENST00000393676.3_Nonsense_Mutation_p.W116*|FOLR1_ENST00000393681.2_Nonsense_Mutation_p.W116*|RP11-807H22.7_ENST00000378140.3_RNA|FOLR1_ENST00000312293.4_Nonsense_Mutation_p.W116* P15328 FOLR1_HUMAN folate receptor 1 (adult) 116 cell death|folic acid transport|receptor-mediated endocytosis anchored to membrane|extracellular region|integral to plasma membrane|membrane fraction folic acid binding|receptor activity cervix(2)|endometrium(1)|large_intestine(7)|lung(2)|ovary(1)|upper_aerodigestive_tract(1) 14 TGGGGCCCTGGATCCAGCAGG 0.572000 128 226 0 0 1 0 0 TRDN 10345 broad.mit.edu 37 6 123539772 123539772 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:123539772G>A ENST00000334268.4 - 40 2457 c.2140C>T c.(2140-2142)Cca>Tca p.P714S TRDN_ENST00000398178.3_Missense_Mutation_p.P722S Q13061 TRDN_HUMAN triadin 722 muscle contraction integral to membrane|plasma membrane|sarcoplasmic reticulum membrane receptor binding NS(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2) 41 GBM - Glioblastoma multiforme(226;0.184) TTCTGTCCTGGAGAATTTGCT 0.438000 28 13 0 0 1 0 0 TRIM25 7706 broad.mit.edu 37 17 54969184 54969184 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:54969184G>A ENST00000316881.4 - 9 1819 c.1770C>T c.(1768-1770)ttC>ttT p.F590F TRIM25_ENST00000537230.1_Silent_p.F590F|RP11-670E13.5_ENST00000574826.1_RNA NM_005082.4 NP_005073.2 Q14258 TRI25_HUMAN tripartite motif containing 25 590 B30.2/SPRY. innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|response to virus cell junction|cytosol|nucleus sequence-specific DNA binding transcription factor activity|ubiquitin-protein ligase activity|zinc ion binding breast(2)|endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 Breast(9;6.15e-08) CAACAGCGAAGAAGATGACAA 0.542000 35 82 0 0 1 0 0 NT5C1B 93034 broad.mit.edu 37 2 18765976 18765976 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:18765976G>A ENST00000304081.4 - 4 627 c.527C>T c.(526-528)tCg>tTg p.S176L NT5C1B_ENST00000600945.1_Missense_Mutation_p.S236L|NT5C1B-RDH14_ENST00000532967.1_Missense_Mutation_p.S236L|NT5C1B_ENST00000359846.2_Missense_Mutation_p.S236L NM_033253.3 NP_150278.2 5'-nucleotidase, cytosolic IB endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1) 29 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177) Ovarian(717;0.208) GGACGTGCGCGAATATTCCAG 0.662000 10 27 0 0 1 0 0 LGALS12 85329 broad.mit.edu 37 11 63277294 63277294 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:63277294C>T ENST00000415491.2 + 3 914 c.300C>T c.(298-300)ctC>ctT p.L100L LGALS12_ENST00000340246.5_Silent_p.L162L|LGALS12_ENST00000394618.3_Silent_p.L161L|LGALS12_ENST00000255684.5_Silent_p.L161L|LGALS12_ENST00000425950.2_Silent_p.L100L NM_001142537.1 NP_001136009.1 Q96DT0 LEG12_HUMAN lectin, galactoside-binding, soluble, 12 161 Galectin 1. apoptosis|induction of apoptosis by intracellular signals nucleus lactose binding breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|upper_aerodigestive_tract(1) 16 GCTACCGGCTCCCACTGTCTC 0.493000 31 61 0 0 1 0 0 NID2 22795 broad.mit.edu 37 14 52481780 52481780 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr14:52481780G>A ENST00000216286.5 - 15 3241 c.3242C>T c.(3241-3243)aCc>aTc p.T1081I NID2_ENST00000541773.1_Missense_Mutation_p.T980I NM_007361.3 NP_031387.3 Q14112 NID2_HUMAN nidogen 2 (osteonidogen) 1081 Thyroglobulin type-1 2. basement membrane calcium ion binding|collagen binding NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 87 Breast(41;0.0639)|all_epithelial(31;0.123) ACACGCAGGGGTGGTGCCTGG 0.632000 6 27 0 0 1 0 0 COL14A1 7373 broad.mit.edu 37 8 121267574 121267574 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:121267574G>A ENST00000297848.3 + 23 3118 c.2848G>A c.(2848-2850)Gtt>Att p.V950I COL14A1_ENST00000309791.4_Missense_Mutation_p.V950I|COL14A1_ENST00000432943.2_3'UTR|COL14A1_ENST00000247781.3_Missense_Mutation_p.V855I NM_021110.1 NP_066933.1 Q05707 COEA1_HUMAN collagen, type XIV, alpha 1 950 Fibronectin type-III 8. cell-cell adhesion|collagen fibril organization collagen type XIV|extracellular space collagen binding|extracellular matrix structural constituent|protein binding, bridging NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2) 119 Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161) OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503) AGCCTATAGGGTTGTTATAGA 0.453000 7 205 0 0 1 0 0 METAP2 10988 broad.mit.edu 37 12 95905681 95905681 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:95905681C>T ENST00000323666.5 + 9 1204 c.975C>T c.(973-975)atC>atT p.I325I METAP2_ENST00000546753.1_Silent_p.I302I|METAP2_ENST00000551840.1_Silent_p.I324I|METAP2_ENST00000550777.1_Silent_p.I289I|METAP2_ENST00000261220.9_Silent_p.I302I NM_006838.3 NP_006829.1 P50579 AMPM2_HUMAN methionyl aminopeptidase 2 325 N-terminal protein amino acid modification|peptidyl-methionine modification|protein processing|proteolysis cytoplasm aminopeptidase activity|metal ion binding|metalloexopeptidase activity endometrium(3)|large_intestine(2)|lung(7)|prostate(1) 13 L-Methionine(DB00134) TGAAACCAATCCGTAATCTAA 0.368000 9 25 0 0 1 0 0 TF 7018 broad.mit.edu 37 3 133476662 133476662 + Missense_Mutation SNP C C T rs138539550 TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:133476662C>T ENST00000402696.3 + 8 1405 c.920C>T c.(919-921)cCt>cTt p.P307L TF_ENST00000264998.3_Missense_Mutation_p.P180L NM_001063.3 NP_001054.1 P02787 TRFE_HUMAN transferrin 307 Transferrin-like 1. cellular iron ion homeostasis|platelet activation|platelet degranulation|transferrin transport|transmembrane transport apical plasma membrane|basal plasma membrane|coated pit|early endosome|endocytic vesicle|endosome membrane|extracellular region|late endosome|perinuclear region of cytoplasm|recycling endosome|stored secretory granule ferric iron binding NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(7)|large_intestine(13)|liver(2)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 49 Aluminium(DB01370)|Bismuth(DB01402)|Iron Dextran(DB00893) TTCAGCTCTCCTCATGGGAAG 0.448000 38 72 0 0 1 0 0 MID2 11043 broad.mit.edu 37 X 107084588 107084588 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chrX:107084588C>T ENST00000262843.6 + 2 1241 c.693C>T c.(691-693)tcC>tcT p.S231S MID2_ENST00000443968.2_Silent_p.S231S NM_012216.3|NM_052817.2 NP_036348.2|NP_438112.2 Q9UJV3 TRIM1_HUMAN midline 2 231 centrosome|microtubule ligase activity|zinc ion binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(2) 19 AGGTCGCATCCCTGAATGATC 0.428000 35 20 0 0 1 0 0 OTC 5009 broad.mit.edu 37 X 38260559 38260559 + Missense_Mutation SNP G G A rs72556260 TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chrX:38260559G>A ENST00000039007.4 + 5 570 c.418G>A c.(418-420)Gct>Act p.A140T TM4SF2_ENST00000465127.1_Intron|OTC_ENST00000488812.1_3'UTR NM_000531.5 NP_000522.3 P00480 OTC_HUMAN ornithine carbamoyltransferase 140 A -> P (in OTCD; late onset). arginine biosynthetic process|urea cycle mitochondrial matrix|ornithine carbamoyltransferase complex ornithine carbamoyltransferase activity breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 22 L-Citrulline(DB00155)|L-Ornithine(DB00129) TGCAGTATTGGCTCGAGTGTA 0.373000 21 10 0 0 1 0 0 ZNF548 147694 broad.mit.edu 37 19 57910998 57910998 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:57910998C>T ENST00000366197.5 + 3 1593 c.1343C>T c.(1342-1344)cCt>cTt p.P448L AC003002.6_ENST00000600421.1_Intron|AC004076.7_ENST00000597410.1_Intron|ZNF548_ENST00000336128.7_Missense_Mutation_p.P460L|AC003002.6_ENST00000596400.1_Intron NM_152909.3 NP_690873.2 Q8NEK5 ZN548_HUMAN zinc finger protein 548 448 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1) 1 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) GGAGAAAGGCCTTACGAGTGC 0.463000 33 49 0 0 1 0 0 RFX5 5993 broad.mit.edu 37 1 151316269 151316269 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:151316269G>A ENST00000290524.4 - 9 823 c.645C>T c.(643-645)atC>atT p.I215I RFX5_ENST00000452513.2_Silent_p.I175I|RFX5_ENST00000368870.2_Silent_p.I215I|RFX5_ENST00000452671.2_Silent_p.I215I NM_000449.3|NM_001025603.1 NP_000440.1|NP_001020774.1 P48382 RFX5_HUMAN regulatory factor X, 5 (influences HLA class II expression) 215 nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity endometrium(3)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 20 Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181) ACCGTTTCAGGATCCGCTCTG 0.587000 48 188 0 0 1 0 0 MCM10 55388 broad.mit.edu 37 10 13230994 13230994 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:13230994C>T ENST00000378694.1 + 9 1404 c.1329C>T c.(1327-1329)gcC>gcT p.A443A MCM10_ENST00000378714.3_Silent_p.A443A|MCM10_ENST00000484800.2_Silent_p.A444A Q7L590 MCM10_HUMAN minichromosome maintenance complex component 10 444 cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle nucleoplasm metal ion binding|protein binding central_nervous_system(1)|large_intestine(4)|ovary(2)|skin(1)|stomach(1) 9 AGAAGTTTGCCCGCAGAGGCA 0.527000 92 171 0 0 1 0 0 VPS13D 55187 broad.mit.edu 37 1 12321191 12321191 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:12321191C>T ENST00000358136.3 + 12 1529 c.1399C>T c.(1399-1401)Cct>Tct p.P467S VPS13D_ENST00000356315.4_Missense_Mutation_p.P467S NM_015378.2 NP_056193.2 Q5THJ4 VP13D_HUMAN vacuolar protein sorting 13 homolog D (S. cerevisiae) 467 protein localization NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4) 130 Ovarian(185;0.249) Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209) GCAGTGGATTCCTGAAGAGAT 0.502000 9 216 0 0 1 0 0 TLL1 7092 broad.mit.edu 37 4 166795147 166795147 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:166795147C>T ENST00000061240.2 + 1 738 c.91C>T c.(91-93)Ctc>Ttc p.L31F TLL1_ENST00000507499.1_Missense_Mutation_p.L31F|TLL1_ENST00000513213.1_Missense_Mutation_p.L31F NM_012464.4 NP_036596.3 O43897 TLL1_HUMAN tolloid-like 1 31 cell differentiation|proteolysis|skeletal system development extracellular region calcium ion binding|metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 77 all_hematologic(180;0.221) Melanoma(52;0.0315)|Prostate(90;0.0405) GBM - Glioblastoma multiforme(119;0.103) CTGCGCTGGCCTCGATTATGA 0.542000 10 310 0 0 1 0 0 PTPRT 11122 broad.mit.edu 37 20 40944422 40944422 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr20:40944422G>A ENST00000373198.3 - 12 2315 c.2080C>T c.(2080-2082)Cct>Tct p.P694S PTPRT_ENST00000373190.1_Missense_Mutation_p.P694S|PTPRT_ENST00000373193.3_Missense_Mutation_p.P694S|PTPRT_ENST00000373201.1_Missense_Mutation_p.P694S|PTPRT_ENST00000373184.1_Missense_Mutation_p.P694S|PTPRT_ENST00000373187.1_Missense_Mutation_p.P694S|PTPRT_ENST00000356100.2_Missense_Mutation_p.P694S NM_133170.3 NP_573400.3 O14522 PTPRT_HUMAN protein tyrosine phosphatase, receptor type, T 694 Fibronectin type-III 4. homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway cell surface|integral to membrane|plasma membrane alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 176 Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783) GGAGAGAGAGGAGGGTTCCAG 0.502000 6 122 0 0 1 0 0 LAMA1 284217 broad.mit.edu 37 18 7050876 7050876 + Nonsense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr18:7050876C>T ENST00000389658.3 - 4 498 c.405G>A c.(403-405)tgG>tgA p.W135* NM_005559.3 NP_005550.2 P25391 LAMA1_HUMAN laminin, alpha 1 135 Laminin N-terminal. axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development extracellular space|laminin-1 complex|laminin-3 complex extracellular matrix structural constituent|receptor binding NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3) 205 Colorectal(10;0.172) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) GCTCCAAAATCCAGTTTCCAG 0.448000 54 41 0 0 1 0 0 CDC14A 8556 broad.mit.edu 37 1 100964519 100964519 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:100964519G>A ENST00000336454.3 + 15 1811 c.1456G>A c.(1456-1458)Ggg>Agg p.G486R CDC14A_ENST00000361544.6_Missense_Mutation_p.G486R|CDC14A_ENST00000542213.1_Missense_Mutation_p.G428R|CDC14A_ENST00000544534.1_Missense_Mutation_p.G486R|CDC14A_ENST00000370125.2_3'UTR NM_003672.3 NP_003663.2 Q9UNH5 CC14A_HUMAN cell division cycle 14A 486 cell cycle|cell division|cell proliferation centrosome|nucleus|spindle protein binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity breast(1)|endometrium(5)|kidney(6)|large_intestine(6)|lung(10)|skin(2)|urinary_tract(1) 31 all_epithelial(167;3.71e-06)|all_lung(203;0.00097)|Lung NSC(277;0.001) Epithelial(280;0.0676)|all cancers(265;0.127)|COAD - Colon adenocarcinoma(174;0.201)|Lung(183;0.227)|Colorectal(144;0.241) CAGTTCTCTAGGGAACTTGAA 0.468000 6 64 0 0 1 0 0 LAMA5 3911 broad.mit.edu 37 20 60889996 60889996 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr20:60889996G>A ENST00000252999.3 - 60 8121 c.8055C>T c.(8053-8055)acC>acT p.T2685T NM_005560.3 NP_005551.3 O15230 LAMA5_HUMAN laminin, alpha 5 2685 Domain II and I. angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex integrin binding breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 81 Breast(26;1.57e-08) BRCA - Breast invasive adenocarcinoma(19;4.36e-06) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) TCTTCTCCAGGGTGGACACTG 0.692000 46 104 0 0 1 0 0 OSMR 9180 broad.mit.edu 37 5 38876460 38876460 + Silent SNP C C T rs111256651 TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:38876460C>T ENST00000274276.3 + 3 633 c.231C>T c.(229-231)tcC>tcT p.S77S OSMR_ENST00000502536.1_Silent_p.S77S NM_003999.2 NP_003990.1 Q99650 OSMR_HUMAN oncostatin M receptor 77 cell proliferation|positive regulation of cell proliferation oncostatin-M receptor complex growth factor binding|oncostatin-M receptor activity NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 46 all_lung(31;0.000365) TTGAAACATCCAATGTCATCT 0.338000 19 130 0 0 1 0 0 LAMA2 3908 broad.mit.edu 37 6 129486763 129486763 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:129486763G>A ENST00000421865.2 + 9 1298 c.1249G>A c.(1249-1251)Gat>Aat p.D417N NM_000426.3|NM_001079823.1 NP_000417.2|NP_001073291.1 P24043 LAMA2_HUMAN laminin, alpha 2 417 Laminin EGF-like 3. cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2) 194 OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245) ATGTCATTGCGATCCAATTGG 0.383000 19 30 0 0 1 0 0 OR2A2 442361 broad.mit.edu 37 7 143807150 143807150 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:143807150G>A ENST00000408979.2 + 1 544 c.475G>A c.(475-477)Gaa>Aaa p.E159K NM_001005480.2 NP_001005480.2 Q6IF42 OR2A2_HUMAN olfactory receptor, family 2, subfamily A, member 2 159 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)|skin(4) 22 Melanoma(164;0.0783) CCTGGTACATGAAATTCTCCT 0.542000 54 173 0 0 1 0 0 EXPH5 23086 broad.mit.edu 37 11 108385331 108385331 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:108385331C>T ENST00000265843.4 - 6 1013 c.903G>A c.(901-903)agG>agA p.R301R EXPH5_ENST00000525344.1_Silent_p.R294R|EXPH5_ENST00000524840.1_5'UTR|EXPH5_ENST00000428840.1_Silent_p.R225R|EXPH5_ENST00000443411.1_Silent_p.R113R NM_015065.2 NP_055880.2 Q149M6 Q149M6_HUMAN exophilin 5 301 intracellular protein transport Rab GTPase binding breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1) 91 all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16) Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184) CTCTGGGCTCCCTTGTCCTAT 0.423000 32 34 0 0 1 0 0 MIR520G 574484 broad.mit.edu 37 19 54225508 54225508 + RNA SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:54225508G>A ENST00000385064.1 + 0 89 NR_030206.1 TACCGTTTGGGAAAAGCAGTG 0.393000 33 56 0 0 1 0 0 NOVA2 4858 broad.mit.edu 37 19 46444045 46444045 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:46444045C>T ENST00000263257.5 - 4 749 c.555G>A c.(553-555)gaG>gaA p.E185E NM_002516.2 NP_002507.1 Q9UNW9 NOVA2_HUMAN neuro-oncological ventral antigen 2 185 KH 2. nucleus RNA binding endometrium(3)|large_intestine(5)|lung(13) 21 all_neural(266;0.113)|Ovarian(192;0.127) OV - Ovarian serous cystadenocarcinoma(262;0.00245)|GBM - Glioblastoma multiforme(486;0.0782)|Epithelial(262;0.179) CCTGCTCGGGCTCGCCGCTGA 0.632000 28 32 0 0 1 0 0 INHBE 83729 broad.mit.edu 37 12 57849981 57849981 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:57849981C>T ENST00000266646.2 + 2 619 c.403C>T c.(403-405)Cct>Tct p.P135S INHBE_ENST00000551553.1_3'UTR NM_031479.3 NP_113667.1 P58166 INHBE_HUMAN inhibin, beta E 135 growth extracellular region growth factor activity|hormone activity breast(2)|central_nervous_system(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2) 15 CCCCACCCTTCCTGGCACTCT 0.622000 OREG0021944 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 113 219 0 0 1 0 0 CACHD1 57685 broad.mit.edu 37 1 65119472 65119472 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:65119472G>A ENST00000371073.2 + 11 1572 c.1572G>A c.(1570-1572)agG>agA p.R524R CACHD1_ENST00000495994.1_3'UTR|CACHD1_ENST00000290039.5_Silent_p.R473R Q5VU97 CAHD1_HUMAN cache domain containing 1 524 Cache 1. calcium ion transport integral to membrane breast(4)|endometrium(3)|kidney(3)|large_intestine(20)|lung(14)|ovary(2)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 55 CTCTTACCAGGCCATATTTAT 0.338000 90 152 0 0 1 0 0 WBP11P1 441818 broad.mit.edu 37 18 30093690 30093690 + RNA SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr18:30093690C>T ENST00000567636.1 + 0 2065 NR_003558.1 CTGTTCCTGTCTCAGTACAAA 0.453000 22 33 0 0 1 0 0 OR2L13 284521 broad.mit.edu 37 1 248263296 248263296 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:248263296C>T ENST00000366478.2 + 3 956 c.619C>T c.(619-621)Ctt>Ttt p.L207F OR2L13_ENST00000358120.2_Missense_Mutation_p.L207F NM_175911.2 NP_787107.1 Q8N349 OR2LD_HUMAN olfactory receptor, family 2, subfamily L, member 13 207 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity|protein binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(32)|ovary(1)|skin(3)|upper_aerodigestive_tract(1) 59 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0132) CCTCTTTCTCCTTTTCCCTTT 0.443000 8 157 0 0 1 0 0 ADCY5 111 broad.mit.edu 37 3 123066664 123066664 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:123066664G>A ENST00000462833.1 - 3 2583 c.1371C>T c.(1369-1371)ttC>ttT p.F457F ADCY5_ENST00000309879.5_Silent_p.F107F|ADCY5_ENST00000491190.1_Silent_p.F90F NM_183357.2 NP_899200.1 O95622 ADCY5_HUMAN adenylate cyclase 5 457 activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|plasma membrane adenylate cyclase activity|ATP binding|metal ion binding p.F457L(1) breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2) 60 GBM - Glioblastoma multiforme(114;0.0342) AAATCTTATGGAACATCATAT 0.547000 108 232 0 0 1 0 0 ITGB6 3694 broad.mit.edu 37 2 161055755 161055755 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:161055755C>T ENST00000283249.2 - 2 313 c.76G>A c.(76-78)Gga>Aga p.G26R ITGB6_ENST00000485635.1_Intron|ITGB6_ENST00000428609.2_Intron|ITGB6_ENST00000409967.2_Missense_Mutation_p.G26R|ITGB6_ENST00000409872.1_Missense_Mutation_p.G26R P18564 ITB6_HUMAN integrin, beta 6 26 cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|multicellular organismal development integrin complex receptor activity breast(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 23 TCTGCACCTCCCAGGGCACAG 0.448000 20 65 0 0 1 0 0 CLPP 8192 broad.mit.edu 37 19 6368553 6368553 + Silent SNP C C T rs140294009 byFrequency TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:6368553C>T ENST00000245816.4 + 6 789 c.666C>T c.(664-666)tcC>tcT p.S222S CLPP_ENST00000596605.1_3'UTR|CLPP_ENST00000596149.1_Silent_p.S135S NM_006012.2 NP_006003.1 Q16740 CLPP_HUMAN caseinolytic mitochondrial matrix peptidase proteolytic subunit 222 proteolysis mitochondrial matrix ATP binding|protein binding|serine-type endopeptidase activity endometrium(2)|large_intestine(2)|ovary(2) 6 CACCAGAGTCCGCCATGGAGA 0.592000 24 44 0 0 1 0 0 DPF3 8110 broad.mit.edu 37 14 73137971 73137971 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr14:73137971G>A ENST00000541685.1 - 9 959 c.947C>T c.(946-948)tCc>tTc p.S316F DPF3_ENST00000556509.1_Intron|DPF3_ENST00000546183.1_Missense_Mutation_p.S326F|DPF3_ENST00000557704.1_5'UTR NM_012074.3 NP_036206.3 Q92784 DPF3_HUMAN D4, zinc and double PHD fingers, family 3 144 chromatin modification|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nBAF complex nucleic acid binding|zinc ion binding central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1) 22 BRCA - Breast invasive adenocarcinoma(234;0.00649)|OV - Ovarian serous cystadenocarcinoma(108;0.0654) TTCTGACGTGGAACCGAATAA 0.562000 33 53 0 0 1 0 0 MARCH11 441061 broad.mit.edu 37 5 16091136 16091136 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:16091136G>A ENST00000332432.8 - 3 947 c.748C>T c.(748-750)Cta>Tta p.L250L MARCH11_ENST00000505509.1_5'UTR NM_001102562.1 NP_001096032.1 A6NNE9 MARHB_HUMAN membrane-associated ring finger (C3HC4) 11 250 cytoplasmic vesicle membrane|integral to membrane ligase activity|zinc ion binding NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)|urinary_tract(1) 20 AGGGATCCTAGGATTACAGCA 0.438000 9 7 0 0 1 0 0 ANO2 57101 broad.mit.edu 37 12 5672620 5672620 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:5672620C>T ENST00000327087.8 - 26 2913 c.2842G>A c.(2842-2844)Gag>Aag p.E948K ANO2_ENST00000546188.1_Missense_Mutation_p.E949K|ANO2_ENST00000356134.5_Missense_Mutation_p.E949K Q9NQ90 ANO2_HUMAN anoctamin 2 953 chloride channel complex|plasma membrane intracellular calcium activated chloride channel activity central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1) 58 TCATGCTCCTCTTTCAGGAAG 0.562000 16 26 0 0 1 0 0 TNRC18 84629 broad.mit.edu 37 7 5391567 5391567 + Missense_Mutation SNP G G C TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:5391567G>C ENST00000399537.4 - 17 5701 c.5353C>G c.(5353-5355)Ccc>Gcc p.P1785A TNRC18_ENST00000430969.1_Missense_Mutation_p.P1785A O15417 TNC18_HUMAN trinucleotide repeat containing 18 1785 DNA binding central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8) 11 Ovarian(82;0.142) UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15) AGAGTCCGGGGGGCCGCCAGG 0.632000 22 28 0 0 1 0 0 LMO7 4008 broad.mit.edu 37 13 76382158 76382158 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr13:76382158C>T ENST00000357063.3 + 11 3155 c.1895C>T c.(1894-1896)tCa>tTa p.S632L LMO7_ENST00000465261.2_Missense_Mutation_p.S347L|LMO7_ENST00000341547.4_Intron|LMO7_ENST00000526202.1_Intron|LMO7_ENST00000321797.8_Missense_Mutation_p.S347L|LMO7_ENST00000377534.3_Missense_Mutation_p.S632L Q8WWI1 LMO7_HUMAN LIM domain 7 632 cytoplasm|nucleus|ubiquitin ligase complex ubiquitin-protein ligase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 56 Breast(118;0.0992) GBM - Glioblastoma multiforme(99;0.0109) TTAGTTCCTTCATATCGGCAG 0.443000 36 30 0 0 1 0 0 PCDHA3 56145 broad.mit.edu 37 5 140182282 140182282 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:140182282G>A ENST00000522353.2 + 1 1500 c.1500G>A c.(1498-1500)ggG>ggA p.G500G PCDHA3_ENST00000532566.2_Silent_p.G500G|PCDHA2_ENST00000520672.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron NM_018906.2 NP_061729.1 NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1) 95 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGCGGGTGGGGGAGCGCGCGC 0.687000 71 118 0 0 1 0 0 DHRS9 10170 broad.mit.edu 37 2 169938247 169938247 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:169938247G>A ENST00000327239.4 + 5 1660 c.156G>A c.(154-156)aaG>aaA p.K52K DHRS9_ENST00000602501.1_Silent_p.K52K|DHRS9_ENST00000432060.2_Silent_p.K112K|DHRS9_ENST00000421653.1_5'UTR|DHRS9_ENST00000357546.2_Silent_p.K52K|DHRS9_ENST00000428522.1_Silent_p.K52K|DHRS9_ENST00000436483.2_Silent_p.K52K|DHRS9_ENST00000412271.1_Silent_p.K52K NM_005771.4 NP_005762.2 Q9BPW9 DHRS9_HUMAN dehydrogenase/reductase (SDR family) member 9 52 9-cis-retinoic acid biosynthetic process|androgen metabolic process|epithelial cell differentiation|progesterone metabolic process|retinol metabolic process integral to endoplasmic reticulum membrane|microsome alcohol dehydrogenase (NAD) activity|binding|racemase and epimerase activity|retinol dehydrogenase activity|testosterone dehydrogenase (NAD+) activity breast(1)|endometrium(3)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1) 13 TTGATAAAAAGGGATTTCATG 0.418000 46 67 0 0 1 0 0 TMEM207 131920 broad.mit.edu 37 3 190159229 190159229 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:190159229G>A ENST00000354905.2 - 3 222 c.156C>T c.(154-156)atC>atT p.I52I NM_207316.1 NP_997199.1 Q6UWW9 TM207_HUMAN transmembrane protein 207 52 integral to membrane endometrium(1)|large_intestine(2)|lung(4) 7 all_cancers(143;3.61e-10)|Ovarian(172;0.0991) Lung(62;2.23e-05)|LUSC - Lung squamous cell carcinoma(58;3.15e-05) GBM - Glioblastoma multiforme(93;0.0176) ATCCTTACCAGATATACCAGC 0.373000 31 74 0 0 1 0 0 LRP6 4040 broad.mit.edu 37 12 12284853 12284853 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:12284853G>A ENST00000261349.4 - 18 3948 c.3872C>T c.(3871-3873)tCc>tTc p.S1291F LRP6_ENST00000540415.1_5'UTR|LRP6_ENST00000543091.1_Missense_Mutation_p.S1246F|BCL2L14_ENST00000396369.1_Intron NM_002336.2 NP_002327.2 O75581 LRP6_HUMAN low density lipoprotein receptor-related protein 6 1291 LDL-receptor class A 2. cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway involved in dorsal/ventral axis specification cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity|Wnt-protein binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1) 85 Prostate(47;0.0865) CTGGAACTGGGACTCTGAGCA 0.502000 44 71 0 0 1 0 0 LCE1C 353133 broad.mit.edu 37 1 152777759 152777759 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:152777759C>T ENST00000368768.1 - 2 246 c.196G>A c.(196-198)Gga>Aga p.G66R LCE1C_ENST00000607093.1_Missense_Mutation_p.G66R NM_178351.3 NP_848128.1 Q5T751 LCE1C_HUMAN late cornified envelope 1C 66 Gly-rich. keratinization NS(1)|lung(4)|prostate(1)|skin(2)|urinary_tract(1) 9 Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.171) CTGCAGCATCCCCCAGAGCTG 0.672000 102 101 0 0 1 0 0 ABCC11 85320 broad.mit.edu 37 16 48245039 48245039 + Missense_Mutation SNP A A C TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr16:48245039A>C ENST00000394747.1 - 10 1777 c.1428T>G c.(1426-1428)ttT>ttG p.F476L ABCC11_ENST00000537808.1_Missense_Mutation_p.F476L|ABCC11_ENST00000353782.5_Missense_Mutation_p.F476L|ABCC11_ENST00000394748.1_Missense_Mutation_p.F476L|ABCC11_ENST00000356608.2_Missense_Mutation_p.F476L NM_033151.3 NP_149163.2 Q96J66 ABCCB_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 11 476 integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2) 83 all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166) TGGCCTCCTCAAAGACCAGAG 0.527000 15 124 0 0 1 0 0 IGLV10-54 28772 broad.mit.edu 37 22 22569507 22569507 + RNA SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr22:22569507C>T ENST00000390287.2 + 0 212 TCCCAAACTCCTATCCTACAG 0.567000 20 26 0 0 1 0 0 BRINP1 1620 broad.mit.edu 37 9 121929543 121929543 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:121929543C>T ENST00000265922.3 - 8 2566 c.2105G>A c.(2104-2106)cGa>cAa p.R702Q DBC1_ENST00000482797.1_Intron NM_014618.2 NP_055433.2 O60477 DBC1_HUMAN 702 cell cycle arrest|cell death cytoplasm protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(15)|liver(1)|lung(34)|ovary(3)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 83 GCGATTAATTCGGTCCCGAAT 0.567000 52 113 0 0 1 0 0 ACSBG2 81616 broad.mit.edu 37 19 6182817 6182817 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:6182817C>T ENST00000588304.1 + 9 1258 c.812C>T c.(811-813)cCt>cTt p.P271L ACSBG2_ENST00000586696.1_Missense_Mutation_p.P321L|ACSBG2_ENST00000252669.5_Missense_Mutation_p.P321L|ACSBG2_ENST00000588485.1_Missense_Mutation_p.P134L|ACSBG2_ENST00000591403.1_Missense_Mutation_p.P321L|ACSBG2_ENST00000591741.1_3'UTR Q5FVE4 ACBG2_HUMAN acyl-CoA synthetase bubblegum family member 2 321 cell differentiation|fatty acid metabolic process|multicellular organismal development|spermatogenesis membrane|microsome|mitochondrion acyl-CoA thioesterase activity|ATP binding|long-chain fatty acid-CoA ligase activity breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(3)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 ATTGGAGTGCCTCAAATTTGG 0.473000 20 40 0 0 1 0 0 PCK1 5105 broad.mit.edu 37 20 56137166 56137166 + Silent SNP C C T rs144697339 byFrequency TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr20:56137166C>T ENST00000319441.4 + 3 428 c.264C>T c.(262-264)atC>atT p.I88I PCK1_ENST00000543666.1_Intron|PCK1_ENST00000535860.1_Intron NM_002591.3 NP_002582.3 P35558 PCKGC_HUMAN phosphoenolpyruvate carboxykinase 1 (soluble) 88 gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus cytosol|nucleus carboxylic acid binding|GTP binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 34 Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242) BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07) TGGCCAGGATCGAAAGCAAGA 0.562000 27 64 0 0 1 0 0 MAPKBP1 23005 broad.mit.edu 37 15 42113892 42113892 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr15:42113892C>T ENST00000457542.2 + 24 3115 c.2829C>T c.(2827-2829)ccC>ccT p.P943P MAPKBP1_ENST00000260357.7_Silent_p.P782P|MAPKBP1_ENST00000456763.2_Silent_p.P949P|MAPKBP1_ENST00000221214.6_Silent_p.P826P|MAPKBP1_ENST00000514566.1_Silent_p.P943P NM_014994.2 NP_055809.2 O60336 MABP1_HUMAN mitogen-activated protein kinase binding protein 1 949 breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 56 all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262) OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225) AACCTGCACCCATTGAAGATG 0.567000 43 89 0 0 1 0 0 PLAGL1 5325 broad.mit.edu 37 6 144262728 144262728 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:144262728C>T ENST00000360537.2 - 5 3138 c.1225G>A c.(1225-1227)Gaa>Aaa p.E409K PLAGL1_ENST00000437412.1_Missense_Mutation_p.E357K|PLAGL1_ENST00000429150.1_Missense_Mutation_p.E409K|PLAGL1_ENST00000416623.1_Missense_Mutation_p.E409K|PLAGL1_ENST00000354765.2_Missense_Mutation_p.E409K|PLAGL1_ENST00000392307.1_Missense_Mutation_p.E357K|PLAGL1_ENST00000392309.1_Missense_Mutation_p.E409K|PLAGL1_ENST00000367571.1_Missense_Mutation_p.E409K|PLAGL1_ENST00000367572.1_Missense_Mutation_p.E357K|PLAGL1_ENST00000444202.1_Missense_Mutation_p.E409K Q9UM63 PLAL1_HUMAN pleiomorphic adenoma gene-like 1 409 cell cycle arrest|induction of apoptosis|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|large_intestine(4)|lung(2)|prostate(1)|skin(3)|stomach(2) 13 OV - Ovarian serous cystadenocarcinoma(155;5.74e-07)|GBM - Glioblastoma multiforme(68;0.0885) GGCAAAGATTCCCCAGGCCCC 0.627000 19 32 0 0 1 0 0 TINF2 26277 broad.mit.edu 37 14 24709037 24709037 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr14:24709037G>A ENST00000267415.7 - 9 1663 c.1322C>T c.(1321-1323)tCc>tTc p.S441F TINF2_ENST00000540705.1_Missense_Mutation_p.S406F|TINF2_ENST00000399423.4_3'UTR|TINF2_ENST00000558566.1_3'UTR|TINF2_ENST00000538777.1_3'UTR NM_001099274.1 NP_001092744.1 Q9BSI4 TINF2_HUMAN TERF1 (TRF1)-interacting nuclear factor 2 441 negative regulation of epithelial cell proliferation|negative regulation of protein ADP-ribosylation|negative regulation of telomere maintenance via telomerase|positive regulation of telomere maintenance|protein localization to chromosome, telomeric region|telomere assembly|telomere maintenance via telomere lengthening nuclear telomere cap complex|nucleoplasm|perinucleolar chromocenter protein binding|telomeric DNA binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|prostate(1)|urinary_tract(1) 7 GBM - Glioblastoma multiforme(265;0.0185) ACAGTCACAGGAAGAAACAGG 0.453000 Congenital Dyskeratosis;Ataxia Pancytopenia syndrome 30 68 0 0 1 0 0 GPNMB 10457 broad.mit.edu 37 7 23296724 23296724 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:23296724C>T ENST00000409458.3 + 4 730 c.581C>T c.(580-582)tCc>tTc p.S194F GPNMB_ENST00000453162.2_Intron|GPNMB_ENST00000258733.4_Intron|GPNMB_ENST00000381990.2_Intron|GPNMB_ENST00000539136.1_Intron Q14956 GPNMB_HUMAN glycoprotein (transmembrane) nmb 0 negative regulation of cell proliferation melanosome breast(5)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(3)|stomach(2) 41 GBM - Glioblastoma multiforme(13;0.154) CTTTACCTTTCCTTAAAATTT 0.393000 11 90 0 0 1 0 0 AE000661.37 0 broad.mit.edu 37 14 22932315 22932315 + RNA SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr14:22932315G>A ENST00000514473.2 - 0 225 TRDC_ENST00000390477.2_RNA|AE000661.37_ENST00000556777.1_RNA CATCATGCTGGAAATAAGACT 0.423000 10 16 0 0 1 0 0 IQUB 154865 broad.mit.edu 37 7 123150031 123150031 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:123150031G>A ENST00000466202.1 - 3 1032 c.456C>T c.(454-456)acC>acT p.T152T IQUB_ENST00000324698.6_Silent_p.T152T|IQUB_ENST00000488987.1_Intron|IQUB_ENST00000434450.1_Silent_p.T152T Q8NA54 IQUB_HUMAN IQ motif and ubiquitin domain containing 152 Ubiquitin-like. breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(3)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1) 45 ATTTAAGAATGGTATCAACCT 0.308000 129 268 0 0 1 0 0 CFB 629 broad.mit.edu 37 6 31915578 31915578 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:31915578G>A ENST00000456570.1 + 17 2279 c.2224G>A c.(2224-2226)Gag>Aag p.E742K CFB_ENST00000425368.2_Missense_Mutation_p.E240K|CFB_ENST00000477310.1_Missense_Mutation_p.E591K|CFB_ENST00000497841.1_3'UTR|CFB_ENST00000556679.1_Missense_Mutation_p.E742K P00751 CFAB_HUMAN complement factor B 240 Peptidase S1. complement activation, alternative pathway|proteolysis extracellular region|plasma membrane complement binding|serine-type endopeptidase activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1) 21 TTCCCTGACAGAGACCATAGA 0.547000 22 434 0 0 1 0 0 HSPA8 3312 broad.mit.edu 37 11 122931865 122931865 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:122931865C>T ENST00000534624.1 - 2 444 c.168G>A c.(166-168)aaG>aaA p.K56K HSPA8_ENST00000227378.3_Silent_p.K56K|HSPA8_ENST00000453788.2_Silent_p.K56K|HSPA8_ENST00000532636.1_Silent_p.K56K|HSPA8_ENST00000526110.1_Silent_p.K56K|HSPA8_ENST00000533540.1_Silent_p.K56K NM_006597.4 NP_006588.1 P11142 HSP7C_HUMAN heat shock 70kDa protein 8 56 cellular membrane organization|interspecies interaction between organisms|mRNA metabolic process|negative regulation of transcription, DNA-dependent|neurotransmitter secretion|post-Golgi vesicle-mediated transport|protein folding|response to unfolded protein|transcription, DNA-dependent cell surface|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|melanosome|plasma membrane|ribonucleoprotein complex ATP binding|ATPase activity, coupled|protein binding breast(1)|central_nervous_system(7)|endometrium(1)|kidney(9)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1) 36 Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279) CAACTTGATTCTTTGCGGCAT 0.428000 37 34 0 0 1 0 0 F2R 2149 broad.mit.edu 37 5 76028537 76028537 + Missense_Mutation SNP T T G TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:76028537T>G ENST00000319211.4 + 2 752 c.487T>G c.(487-489)Ttt>Gtt p.F163V NM_001992.3 NP_001983.2 P25116 PAR1_HUMAN coagulation factor II (thrombin) receptor 163 activation of caspase activity|anatomical structure morphogenesis|connective tissue replacement involved in inflammatory response wound healing|negative regulation of cell proliferation|platelet activation|positive regulation of blood coagulation|positive regulation of cell migration|positive regulation of collagen biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JAK-STAT cascade|positive regulation of MAPKKK cascade|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of transcription, DNA-dependent|STAT protein import into nucleus|tyrosine phosphorylation of STAT protein caveola|extracellular region|Golgi apparatus|integral to plasma membrane|platelet dense tubular network receptor binding|thrombin receptor activity NS(1)|breast(1)|endometrium(3)|kidney(1)|lung(7)|ovary(3) 16 all_lung(232;0.000414)|Lung NSC(167;0.0011)|Prostate(461;0.00955)|Ovarian(174;0.0129) all cancers(79;4.43e-43) Streptokinase(DB00086) CAGCTATTACTTTTCCGGCAG 0.488000 34 299 0 0 1 0 0 COL6A6 131873 broad.mit.edu 37 3 130287188 130287188 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:130287188C>T ENST00000358511.6 + 5 2172 c.2141C>T c.(2140-2142)cCc>cTc p.P714L COL6A6_ENST00000453409.2_Missense_Mutation_p.P714L NM_001102608.1 NP_001096078.1 A6NMZ7 CO6A6_HUMAN collagen, type VI, alpha 6 714 Nonhelical region.|VWFA 4. axon guidance|cell adhesion collagen NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 134 TACTTCAGCCCCACCAAGGGC 0.507000 48 92 0 0 1 0 0 DLC1 10395 broad.mit.edu 37 8 12952616 12952616 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:12952616G>A ENST00000276297.4 - 11 3715 c.3306C>T c.(3304-3306)ctC>ctT p.L1102L DLC1_ENST00000358919.2_Silent_p.L665L|DLC1_ENST00000512044.2_Silent_p.L699L|DLC1_ENST00000510318.1_5'UTR|DLC1_ENST00000520226.1_Silent_p.L591L NM_182643.2 NP_872584.2 Q96QB1 RHG07_HUMAN deleted in liver cancer 1 1102 Rho-GAP. actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction caveola|cytosol|focal adhesion|nucleus Rho GTPase activator activity|SH2 domain binding NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 110 AATGGTTCCGGAGGTATCGCA 0.567000 32 72 0 0 1 0 0 DCX 1641 broad.mit.edu 37 X 110653482 110653482 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chrX:110653482C>T ENST00000338081.3 - 2 559 c.388G>A c.(388-390)Gag>Aag p.E130K DCX_ENST00000488120.1_Missense_Mutation_p.E49K|DCX_ENST00000371993.2_Missense_Mutation_p.E49K|DCX_ENST00000496551.1_5'UTR|DCX_ENST00000356915.2_Missense_Mutation_p.E49K|DCX_ENST00000356220.3_Missense_Mutation_p.E49K NM_000555.3 NP_000546.2 O43602 DCX_HUMAN doublecortin 130 axon guidance|central nervous system development|intracellular signal transduction cytosol|microtubule associated complex microtubule binding breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|skin(6)|upper_aerodigestive_tract(1) 41 GCTTTCTTCTCATTACTCAGT 0.547000 91 46 0 0 1 0 0 PROKR2 128674 broad.mit.edu 37 20 5294925 5294925 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr20:5294925C>T ENST00000546004.1 - 2 337 c.91G>A c.(91-93)Ggt>Agt p.G31S PROKR2_ENST00000217270.3_Missense_Mutation_p.G31S Q8NFJ6 PKR2_HUMAN prokineticin receptor 2 31 integral to membrane|plasma membrane neuropeptide Y receptor activity autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4) 53 TCATAATCACCATAACTGAAG 0.502000 HNSCC(71;0.22) 39 80 0 0 1 0 0 SACS 26278 broad.mit.edu 37 13 23911980 23911980 + Missense_Mutation SNP A A C TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr13:23911980A>C ENST00000382298.3 - 10 6623 c.6035T>G c.(6034-6036)tTt>tGt p.F2012C SACS_ENST00000402364.1_Missense_Mutation_p.F1262C|SACS_ENST00000382292.3_Missense_Mutation_p.F2012C NM_014363.4 NP_055178.3 Q9NZJ4 SACS_HUMAN spastic ataxia of Charlevoix-Saguenay (sacsin) 2012 cell death|negative regulation of inclusion body assembly|protein folding axon|cell body fiber|dendrite|mitochondrion|nucleus ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11) 189 all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128) all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189) GTATTTCAAAAATATCTTGAA 0.378000 31 45 0 0 1 0 0 DRD1 1812 broad.mit.edu 37 5 174869125 174869125 + Missense_Mutation SNP C C A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:174869125C>A ENST00000393752.2 - 2 1970 c.978G>T c.(976-978)ttG>ttT p.L326F NM_000794.3 NP_000785.1 P21728 DRD1_HUMAN dopamine receptor D1 326 activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|adult walking behavior|cerebral cortex GABAergic interneuron migration|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|mating behavior|positive regulation of cAMP biosynthetic process|positive regulation of cell migration|positive regulation of potassium ion transport|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of synaptic transmission, glutamatergic|prepulse inhibition|response to drug|synapse assembly|visual learning endoplasmic reticulum membrane|membrane fraction protein binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 23 all_cancers(89;0.00895)|Renal(175;0.000159)|Lung NSC(126;0.00625)|all_lung(126;0.0104) Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183) Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Carphenazine(DB01038)|Chlorprothixene(DB01239)|Clozapine(DB00363)|Cocaine(DB00907)|Dopamine(DB00988)|Fenoldopam(DB00800)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methylergonovine(DB00353)|Minaprine(DB00805)|Olanzapine(DB00334)|Pegademase bovine(DB00061)|Pergolide(DB01186)|Perphenazine(DB00850)|Prochlorperazine(DB00433)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Triflupromazine(DB00508)|Zuclopenthixol(DB01624) TGATGGGGTTCAAGGATGAAT 0.473000 33 94 2.20262e-25 2.22759e-25 1 1 0 ZBED6CL 113763 broad.mit.edu 37 7 150027598 150027598 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:150027598G>A ENST00000343855.4 + 1 661 c.105G>A c.(103-105)caG>caA p.Q35Q LRRC61_ENST00000493307.1_Intron|LRRC61_ENST00000359623.4_Intron|LRRC61_ENST00000323078.7_Intron NM_138434.2 NP_612443.1 ZBED6 C-terminal like CACACTTTCAGGAGCAGAGTG 0.647000 92 325 0 0 1 0 0 KIAA1217 56243 broad.mit.edu 37 10 24831651 24831651 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:24831651G>A ENST00000376451.2 + 13 2873 c.2613G>A c.(2611-2613)cgG>cgA p.R871R KIAA1217_ENST00000307544.6_Silent_p.R871R|KIAA1217_ENST00000396446.1_Intron|KIAA1217_ENST00000376452.3_Silent_p.R1152R|KIAA1217_ENST00000396445.1_Intron|KIAA1217_ENST00000376462.1_Intron|KIAA1217_ENST00000458595.1_Intron|KIAA1217_ENST00000376454.3_Silent_p.R1188R Q5T5P2 SKT_HUMAN KIAA1217 1188 embryonic skeletal system development cytoplasm breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1) 70 AAGATGTACGGAAATCTGATG 0.398000 31 68 0 0 1 0 0 HRH1 3269 broad.mit.edu 37 3 11301750 11301750 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:11301750G>A ENST00000397056.1 + 3 1218 c.1027G>A c.(1027-1029)Gcc>Acc p.A343T HRH1_ENST00000431010.2_Missense_Mutation_p.A343T|HRH1_ENST00000438284.2_Missense_Mutation_p.A343T NM_000861.3|NM_001098211.1 NP_000852.1|NP_001091681.1 P35367 HRH1_HUMAN histamine receptor H1 343 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|inflammatory response cytoplasm|integral to plasma membrane|nucleus histamine receptor activity autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 25 Aceprometazine(DB01615)|Astemizole(DB00637)|Azatadine(DB00719)|Azelastine(DB00972)|Benzquinamide(DB00767)|Bepotastine(DB04890)|Bromodiphenhydramine(DB01237)|Brompheniramine(DB00835)|Buclizine(DB00354)|Carbinoxamine(DB00748)|Cetirizine(DB00341)|Chlophedianol(DB04837)|Chlorpheniramine(DB01114)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clemastine(DB00283)|Clozapine(DB00363)|Cyclizine(DB01176)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexbrompheniramine(DB00405)|Dimenhydrinate(DB00985)|Diphenhydramine(DB01075)|Diphenylpyraline(DB01146)|Doxepin(DB01142)|Doxylamine(DB00366)|Emedastine(DB01084)|Epinastine(DB00751)|Fexofenadine(DB00950)|Flunarizine(DB04841)|Histamine Phosphate(DB00667)|Hydroxyzine(DB00557)|Ketotifen(DB00920)|Levocabastine(DB01106)|Loratadine(DB00455)|Maprotiline(DB00934)|Meclizine(DB00737)|Mequitazine(DB01071)|Methdilazine(DB00902)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Nedocromil(DB00716)|Olanzapine(DB00334)|Olopatadine(DB00768)|Orphenadrine(DB01173)|Pemirolast(DB00885)|Phenindamine(DB01619)|Pheniramine(DB01620)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Terfenadine(DB00342)|Thiethylperazine(DB00372)|Trazodone(DB00656)|Trimeprazine(DB01246)|Tripelennamine(DB00792)|Triprolidine(DB00427)|Ziprasidone(DB00246) CACACATGGGGCCAGCGAGAT 0.552000 27 85 0 0 1 0 0 ST6GALNAC1 55808 broad.mit.edu 37 17 74622818 74622818 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:74622818G>A ENST00000156626.7 - 5 1425 c.1226C>T c.(1225-1227)tCc>tTc p.S409F NM_018414.3 NP_060884.1 Q9NSC7 SIA7A_HUMAN ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 1 409 protein glycosylation integral to Golgi membrane alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1) 22 GCCGTAGAAGGATGTCCGAGT 0.527000 120 541 0 0 1 0 0 CDK5RAP1 51654 broad.mit.edu 37 20 31967305 31967305 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr20:31967305G>A ENST00000357886.4 - 9 1264 c.1111C>T c.(1111-1113)Cgt>Tgt p.R371C CDK5RAP1_ENST00000544843.1_Missense_Mutation_p.R357C|CDK5RAP1_ENST00000473997.1_5'UTR|CDK5RAP1_ENST00000339269.5_Intron|CDK5RAP1_ENST00000452723.3_Missense_Mutation_p.R267C|CDK5RAP1_ENST00000346416.2_Missense_Mutation_p.R357C Q96SZ6 CK5P1_HUMAN CDK5 regulatory subunit associated protein 1 371 brain development|negative regulation of cyclin-dependent protein kinase activity|regulation of neuron differentiation|tRNA modification cytoplasm 4 iron, 4 sulfur cluster binding|metal ion binding|neuronal Cdc2-like kinase binding|transferase activity endometrium(2)|kidney(2)|large_intestine(3)|lung(12)|ovary(3)|skin(3)|urinary_tract(1) 26 GAGGTAAAACGGATCCTCATT 0.468000 22 38 0 0 1 0 0 KRT18P55 284085 broad.mit.edu 37 17 26604146 26604146 + RNA SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:26604146C>T ENST00000577198.1 - 0 815 NR_028334.1 GACTCCCATTCCTGCCAGACC 0.602000 39 87 0 0 1 0 0 TAS2R10 50839 broad.mit.edu 37 12 10978278 10978278 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:10978278G>A ENST00000240619.2 - 1 679 c.591C>T c.(589-591)atC>atT p.I197I NM_023921.1 NP_076410.1 Q9NYW0 T2R10_HUMAN taste receptor, type 2, member 10 197 sensory perception of taste integral to membrane taste receptor activity breast(1)|central_nervous_system(1)|large_intestine(7)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 17 AAAGGGAAATGATTAAAAAAA 0.338000 39 107 0 0 1 0 0 MESP2 145873 broad.mit.edu 37 15 90320345 90320345 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr15:90320345C>T ENST00000341735.3 + 1 757 c.757C>T c.(757-759)Ccc>Tcc p.P253S MESP2_ENST00000560219.1_Intron|MESP2_ENST00000558723.1_Intron NM_001039958.1 NP_001035047.1 Q0VG99 MESP2_HUMAN mesoderm posterior 2 homolog (mouse) 253 Notch signaling pathway nucleus DNA binding kidney(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1) 6 Lung NSC(78;0.0221)|all_lung(78;0.0448) BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514) CCCTTACTGCCCCAAGATACA 0.687000 8 35 0 0 1 0 0 DNMT1 1786 broad.mit.edu 37 19 10291458 10291458 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:10291458G>A ENST00000340748.4 - 3 456 c.221C>T c.(220-222)tCc>tTc p.S74F DNMT1_ENST00000359526.4_Missense_Mutation_p.S74F|DNMT1_ENST00000540357.1_Missense_Mutation_p.S74F P26358 DNMT1_HUMAN DNA (cytosine-5-)-methyltransferase 1 74 Interaction with DMAP1.|Interaction with DNMT3A.|Interaction with the PRC2/EED-EZH2 complex (By similarity). chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent nucleus DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1) 70 OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06) Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035) ACTTACCTCGGATAATTCTTC 0.418000 19 33 0 0 1 0 0 ANKH 56172 broad.mit.edu 37 5 14751247 14751247 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:14751247G>A ENST00000284268.6 - 5 948 c.618C>T c.(616-618)acC>acT p.T206T ANKH_ENST00000503939.1_5'UTR|ANKH_ENST00000535119.1_Silent_p.T8T NM_054027.4 NP_473368.1 Q9HCJ1 ANKH_HUMAN ANKH inorganic pyrophosphate transport regulator 206 locomotory behavior|regulation of bone mineralization|skeletal system development integral to plasma membrane|outer membrane inorganic diphosphate transmembrane transporter activity|inorganic phosphate transmembrane transporter activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 29 GGCACAGGGTGGTGCAGCGCA 0.557000 25 43 0 0 1 0 0 SIRPD 128646 broad.mit.edu 37 20 1532508 1532508 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr20:1532508G>A ENST00000381623.3 - 2 1439 c.250C>T c.(250-252)Ccc>Tcc p.P84S SIRPD_ENST00000381621.1_Missense_Mutation_p.P84S Q9H106 SIRPD_HUMAN signal-regulatory protein delta 84 Ig-like V-type. extracellular region breast(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1) 15 TTTACTCTGGGAAAGTTACCT 0.463000 39 77 0 0 1 0 0 AE000661.37 0 broad.mit.edu 37 14 22891824 22891824 + RNA SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr14:22891824G>A ENST00000514473.2 - 0 225 TRDV2_ENST00000390469.2_RNA|AE000661.37_ENST00000541008.1_RNA|AE000661.37_ENST00000537850.1_RNA|AE000661.37_ENST00000545670.1_RNA|AE000661.37_ENST00000535351.1_RNA CTCCATGAAAGGAGAAGCGAT 0.478000 42 85 0 0 1 0 0 RTP2 344892 broad.mit.edu 37 3 187419794 187419794 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:187419794G>A ENST00000358241.1 - 1 551 c.123C>T c.(121-123)gcC>gcT p.A41A NM_001004312.2 NP_001004312.2 Q5QGT7 RTP2_HUMAN receptor (chemosensory) transporter protein 2 41 protein insertion into membrane cell surface|integral to membrane|plasma membrane olfactory receptor binding large_intestine(3)|lung(14)|skin(1) 18 all_cancers(143;4.06e-12)|Ovarian(172;0.0418) OV - Ovarian serous cystadenocarcinoma(80;1.76e-18) GBM - Glioblastoma multiforme(93;0.0515) TCCAGCCAGGGGCCAGCTCAC 0.597000 68 202 0 0 1 0 0 CDKL4 344387 broad.mit.edu 37 2 39414809 39414809 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:39414809C>T ENST00000378803.1 - 6 693 c.694G>A c.(694-696)Ggg>Agg p.G232R CDKL4_ENST00000395035.3_Missense_Mutation_p.G232R NM_001009565.1 NP_001009565.1 Q5MAI5 CDKL4_HUMAN cyclin-dependent kinase-like 4 232 Protein kinase. cytoplasm ATP binding|cyclin-dependent protein kinase activity breast(1)|large_intestine(2)|liver(1)|lung(7)|ovary(1) 12 all_hematologic(82;0.248) TGGAAAAACCCGTTACTTTTA 0.328000 9 47 0 0 1 0 0 TMEM74 157753 broad.mit.edu 37 8 109796815 109796815 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:109796815C>T ENST00000297459.3 - 2 691 c.513G>A c.(511-513)ggG>ggA p.G171G TMEM74_ENST00000518838.1_Intron NM_153015.1 NP_694560.1 Q96NL1 TMM74_HUMAN transmembrane protein 74 171 autophagy autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane|lysosomal membrane p.G171G(1) breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1) 29 OV - Ovarian serous cystadenocarcinoma(57;3.08e-10) CTATAGACTTCCCTGAAGACG 0.483000 30 82 0 0 1 0 0 ATP6V1E2 90423 broad.mit.edu 37 2 46739262 46739262 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:46739262C>T ENST00000306448.4 - 2 1702 c.589G>A c.(589-591)Gaa>Aaa p.E197K ATP6V1E2_ENST00000522587.1_Missense_Mutation_p.E197K NM_080653.3 NP_542384.1 Q96A05 VATE2_HUMAN ATPase, H+ transporting, lysosomal 31kDa, V1 subunit E2 197 cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport cytosol|proton-transporting two-sector ATPase complex, catalytic domain proton-transporting ATPase activity, rotational mechanism cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1) 13 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) LUSC - Lung squamous cell carcinoma(58;0.151) AGTCGGCTTTCCAAGGTATTT 0.458000 63 127 0 0 1 0 0 EML5 161436 broad.mit.edu 37 14 89124701 89124701 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr14:89124701G>A ENST00000554922.1 - 26 3955 c.3707C>T c.(3706-3708)gCc>gTc p.A1236V EML5_ENST00000352093.5_Missense_Mutation_p.A1198V|EML5_ENST00000380664.5_Missense_Mutation_p.A1236V NM_183387.2 NP_899243.1 Q05BV3 EMAL5_HUMAN echinoderm microtubule associated protein like 5 1236 cytoplasm|microtubule breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 50 TGTACTATGGGCCACATACCT 0.353000 42 109 0 0 1 0 0 CR1 1378 broad.mit.edu 37 1 207696962 207696962 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:207696962C>T ENST00000367049.4 + 5 494 c.494C>T c.(493-495)cCt>cTt p.P165L CR1_ENST00000367050.4_3'UTR|CR1_ENST00000400960.2_Missense_Mutation_p.P165L|CR1_ENST00000367052.1_Missense_Mutation_p.P165L|CR1_ENST00000367053.1_Missense_Mutation_p.P165L|CR1_ENST00000367051.1_Intron NM_000651.4 NP_000642.3 P17927 CR1_HUMAN complement component (3b/4b) receptor 1 (Knops blood group) 165 Sushi 3. complement activation, classical pathway|innate immune response integral to plasma membrane complement receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 82 CCAGGAATTCCTTGTGGGCTA 0.403000 18 62 0 0 1 0 0 CHRNA7 1139 broad.mit.edu 37 15 32323121 32323121 + Nonsense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr15:32323121C>T ENST00000306901.3 + 2 173 c.76C>T c.(76-78)Cag>Tag p.Q26* CHRNA7_ENST00000455693.2_5'UTR|CHRNA7_ENST00000454250.3_Nonsense_Mutation_p.Q55* NM_000746.5 NP_000737.1 P36544 ACHA7_HUMAN cholinergic receptor, nicotinic, alpha 7 (neuronal) 26 activation of MAPK activity|calcium ion transport|cellular calcium ion homeostasis|memory|negative regulation of tumor necrosis factor production|positive regulation of angiogenesis|positive regulation of cell proliferation|response to hypoxia|response to nicotine cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane acetylcholine receptor activity|beta-amyloid binding|chloride channel regulator activity|nicotinic acetylcholine-activated cation-selective channel activity|protein homodimerization activity|toxin binding endometrium(3)|large_intestine(1)|lung(6)|ovary(2) 12 all_lung(180;6.35e-11) all cancers(64;3.34e-21)|Epithelial(43;2.64e-15)|GBM - Glioblastoma multiforme(186;5.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.00112)|Lung(196;0.227) Nicotine(DB00184)|Varenicline(DB01273) AGGCGAGTTCCAGAGGAAGCT 0.632000 25 38 0 0 1 0 0 TTC40 54777 broad.mit.edu 37 10 134628347 134628347 + Splice_Site SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:134628347C>T ENST00000368586.5 - 51 7289 c.e51+1 TTC40_ENST00000263170.5_Splice_Site NM_001200049.2 NP_001186978.2 Q8IYW2 CJ092_HUMAN tetratricopeptide repeat domain 40 breast(1)|endometrium(5)|lung(19)|urinary_tract(3) 28 CCCCCACCCACCTTCCTGCCC 0.602000 73 163 0 0 1 0 0 TMPRSS11D 9407 broad.mit.edu 37 4 68699049 68699049 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:68699049C>T ENST00000283916.6 - 7 663 c.565G>A c.(565-567)Gga>Aga p.G189R RP11-453E17.1_ENST00000500538.2_RNA|TMPRSS11D_ENST00000509584.1_5'UTR|TMPRSS11D_ENST00000545541.1_Missense_Mutation_p.G72R NM_004262.2 NP_004253.1 O60235 TM11D_HUMAN transmembrane protease, serine 11D 189 Peptidase S1. proteolysis|respiratory gaseous exchange extracellular region|integral to plasma membrane serine-type endopeptidase activity cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 23 TCAGTGCCTCCAAGGATTCTC 0.502000 9 241 0 0 1 0 0 SVOPL 136306 broad.mit.edu 37 7 138281185 138281185 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:138281185C>T ENST00000421622.1 - 11 1292 c.1084G>A c.(1084-1086)Gaa>Aaa p.E362K SVOPL_ENST00000288513.5_Missense_Mutation_p.E330K|SVOPL_ENST00000419765.3_Missense_Mutation_p.E482K|SVOPL_ENST00000463557.1_5'UTR|SVOPL_ENST00000436657.1_Missense_Mutation_p.E330K Q8N434 SVOPL_HUMAN SVOP-like 482 integral to membrane transmembrane transporter activity p.E330K(1) NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3) 19 CCTTTGGTTTCGATGGGGAGA 0.488000 30 70 0 0 1 0 0 ZNF385D 79750 broad.mit.edu 37 3 21478603 21478603 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:21478603C>T ENST00000281523.2 - 5 1050 c.532G>A c.(532-534)Gaa>Aaa p.E178K ZNF385D_ENST00000494118.1_5'UTR NM_024697.2 NP_078973.1 Q9H6B1 Z385D_HUMAN zinc finger protein 385D 178 Thr-rich. nucleus nucleic acid binding|zinc ion binding NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4) 46 GGGCTTTTTTCCACTTTAGAG 0.468000 47 106 0 0 1 0 0 QTRT1 81890 broad.mit.edu 37 19 10822955 10822955 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:10822955C>T ENST00000250237.5 + 6 775 c.765C>T c.(763-765)ccC>ccT p.P255P NM_031209.2 NP_112486.1 Q9BXR0 TGT_HUMAN queuine tRNA-ribosyltransferase 1 255 queuosine biosynthetic process mitochondrion|nucleus|ribosome metal ion binding|queuine tRNA-ribosyltransferase activity large_intestine(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1) 12 Epithelial(33;1.55e-05)|all cancers(31;3.42e-05) AGGACAAGCCCCGATATCTGA 0.637000 25 66 0 0 1 0 0 MMP8 4317 broad.mit.edu 37 11 102593330 102593330 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:102593330G>A ENST00000236826.3 - 2 275 c.177C>T c.(175-177)atC>atT p.I59I NM_002424.2 NP_002415.1 P22894 MMP8_HUMAN matrix metallopeptidase 8 (neutrophil collagenase) 59 collagen catabolic process|proteolysis extracellular space|proteinaceous extracellular matrix metalloendopeptidase activity|serine-type endopeptidase activity|zinc ion binding p.I59I(1) autonomic_ganglia(1)|breast(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(4)|skin(6)|stomach(1)|urinary_tract(1) 32 all_cancers(8;0.00092)|all_epithelial(12;0.00389)|Lung NSC(15;0.227) all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) Epithelial(9;0.0555)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.189) BRCA - Breast invasive adenocarcinoma(274;0.0141) GCTTTTCAACGATCACATTAG 0.438000 14 107 0 0 1 0 0 CYP4F12 66002 broad.mit.edu 37 19 15789169 15789169 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:15789169C>T ENST00000550308.1 + 3 677 c.297C>T c.(295-297)atC>atT p.I99I CYP4F12_ENST00000324632.9_Silent_p.I99I NM_023944.3 NP_076433.3 cytochrome P450, family 4, subfamily F, polypeptide 12 p.I99I(1) NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2) 41 Acute lymphoblastic leukemia(2;0.0367) TCCCCTTCATCGTTTTATGCC 0.547000 18 233 0 0 1 0 0 CHERP 10523 broad.mit.edu 37 19 16652741 16652741 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:16652741G>A ENST00000546361.2 - 2 290 c.139C>T c.(139-141)Ctt>Ttt p.L47F CTD-3222D19.2_ENST00000409035.1_Intron|CHERP_ENST00000198939.6_Missense_Mutation_p.L47F NM_006387.5 NP_006378.3 Q8IWX8 CHERP_HUMAN calcium homeostasis endoplasmic reticulum protein 47 cellular calcium ion homeostasis|negative regulation of cell proliferation|nervous system development|RNA processing endoplasmic reticulum|perinuclear region of cytoplasm RNA binding p.L47I(1) endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|stomach(1)|urinary_tract(3) 24 CCTCCGAAAAGAAACGAGAAT 0.552000 58 128 0 0 1 0 0 MAGEC1 9947 broad.mit.edu 37 X 140994720 140994720 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chrX:140994720C>T ENST00000285879.4 + 4 1816 c.1530C>T c.(1528-1530)ccC>ccT p.P510P MAGEC1_ENST00000406005.2_Intron NM_005462.4 NP_005453.2 O60732 MAGC1_HUMAN melanoma antigen family C, 1 510 protein binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1) 127 Acute lymphoblastic leukemia(192;6.56e-05) AGGGTTTTCCCCAGTCTCCTC 0.507000 HNSCC(15;0.026) 105 63 0 0 1 0 0 AGBL4 84871 broad.mit.edu 37 1 49056508 49056508 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:49056508G>A ENST00000371839.1 - 10 1217 c.1101C>T c.(1099-1101)tcC>tcT p.S367S AGBL4_ENST00000334103.7_Silent_p.S100S NM_032785.3 NP_116174.3 Q5VU57 CBPC6_HUMAN ATP/GTP binding protein-like 4 367 C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis cytosol metallocarboxypeptidase activity|tubulin binding|zinc ion binding NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|stomach(1) 15 Colorectal(2;0.00349)|COAD - Colon adenocarcinoma(2;0.0037) GGCTTACATAGGAGAAGTCCT 0.542000 3 12 0 0 1 0 0 MECOM 2122 broad.mit.edu 37 3 168834404 168834404 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:168834404G>A ENST00000464456.1 - 7 1892 c.692C>T c.(691-693)tCc>tTc p.S231F MECOM_ENST00000433243.2_Missense_Mutation_p.S232F|MECOM_ENST00000460814.1_Missense_Mutation_p.S231F|MECOM_ENST00000494292.1_Missense_Mutation_p.S419F|MECOM_ENST00000392736.3_Missense_Mutation_p.S231F|MECOM_ENST00000264674.3_Missense_Mutation_p.S296F|MECOM_ENST00000472280.1_Missense_Mutation_p.S232F|MECOM_ENST00000468789.1_Missense_Mutation_p.S231F NM_001164000.1 NP_001157472.1 Q13465 MDS1_HUMAN MDS1 and EVI1 complex locus 0 sequence-specific DNA binding transcription factor activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4) 85 TTTATTTAAGGAAGACGTAGT 0.453000 51 132 0 0 1 0 0 VAT1L 57687 broad.mit.edu 37 16 77850907 77850907 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr16:77850907G>A ENST00000302536.2 + 2 476 c.323G>A c.(322-324)gGg>gAg p.G108E NM_020927.1 NP_065978.1 Q9HCJ6 VAT1L_HUMAN vesicle amine transport 1-like 108 oxidoreductase activity|zinc ion binding central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(10)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 24 GAGTGTTCTGGGATTGTTGAA 0.433000 57 53 0 0 1 0 0 HSD3B2 3284 broad.mit.edu 37 1 119965219 119965219 + Missense_Mutation SNP G G T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:119965219G>T ENST00000543831.1 + 4 1344 c.1095G>T c.(1093-1095)gaG>gaT p.E365D HSD3B2_ENST00000369416.3_Missense_Mutation_p.E365D NM_001166120.1 NP_001159592.1 P26439 3BHS2_HUMAN hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 365 androgen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane 3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity p.E365D(1) breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(19)|ovary(2)|skin(1) 27 all_neural(166;0.187) all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284) Lung(183;0.015)|LUSC - Lung squamous cell carcinoma(189;0.0836) NADH(DB00157)|Trilostane(DB01108) GGCACAAGGAGACCCTGAAGT 0.512000 5 51 0.000602214 0.000603752 1 1 0 KMT2D 8085 broad.mit.edu 37 12 49432442 49432442 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:49432442G>A ENST00000301067.7 - 34 8696 c.8697C>T c.(8695-8697)ggC>ggT p.G2899G NM_003482.3 NP_003473.3 lysine (K)-specific methyltransferase 2D TCTGAGGTGGGCCCTGACCAG 0.617000 16 26 0 0 1 0 0 NOS2 4843 broad.mit.edu 37 17 26096142 26096142 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:26096142G>A ENST00000313735.6 - 17 2128 c.1895C>T c.(1894-1896)cCt>cTt p.P632L NM_000625.4 NP_000616.3 P35228 NOS2_HUMAN nitric oxide synthase 2, inducible 632 Flavodoxin-like. arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process cytosol|nucleus arginine binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 56 Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155) GCAGAACCGAGGGTACATGCT 0.612000 9 27 0 0 1 0 0 ZNF503 84858 broad.mit.edu 37 10 77158926 77158926 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:77158926G>A ENST00000372524.4 - 2 2008 c.1522C>T c.(1522-1524)Cct>Tct p.P508S ZNF503_ENST00000535216.1_Missense_Mutation_p.P508S|RP11-399K21.11_ENST00000418818.2_lincRNA NM_032772.4 NP_116161.2 Q96F45 ZN503_HUMAN zinc finger protein 503 508 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding lung(4)|ovary(1)|skin(1) 6 all_cancers(46;0.105)|all_epithelial(25;0.00449)|Prostate(51;0.0112)|Ovarian(15;0.088) GGGTCGTTAGGGAGCATAAAG 0.687000 13 43 0 0 1 0 0 PIK3C2A 5286 broad.mit.edu 37 11 17167419 17167419 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:17167419G>A ENST00000265970.7 - 6 1630 c.1631C>T c.(1630-1632)gCc>gTc p.A544V PIK3C2A_ENST00000531428.1_Intron|PIK3C2A_ENST00000540361.1_Missense_Mutation_p.A164V NM_002645.2 NP_002636.2 O00443 P3C2A_HUMAN phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha 544 cell communication|phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling clathrin-coated vesicle|Golgi apparatus|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity central_nervous_system(4)|endometrium(5)|kidney(5)|large_intestine(7)|lung(24)|ovary(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 58 Phosphatidylserine(DB00144) CCTCGTCATGGCTTCTTTGCA 0.328000 64 54 0 0 1 0 0 PCDHB4 56131 broad.mit.edu 37 5 140502334 140502334 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:140502334G>A ENST00000194152.1 + 1 754 c.754G>A c.(754-756)Gaa>Aaa p.E252K NM_018938.2 NP_061761.1 Q9Y5E5 PCDB4_HUMAN 252 Cadherin 3. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton calcium ion binding autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 67 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GCAGGTCCTGGAAAACAGCCC 0.478000 7 153 0 0 1 0 0 IL1R1 3554 broad.mit.edu 37 2 102788361 102788361 + Silent SNP A A G TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:102788361A>G ENST00000410023.1 + 8 1140 c.822A>G c.(820-822)ctA>ctG p.L274L IL1R1_ENST00000409288.1_Silent_p.L274L|IL1R1_ENST00000409929.1_Silent_p.L274L|IL1R1_ENST00000233946.3_Silent_p.L274L|IL1R1_ENST00000424272.1_Silent_p.L274L|IL1R1_ENST00000409329.1_Silent_p.L274L|IL1R1_ENST00000409589.1_Intron P14778 IL1R1_HUMAN interleukin 1 receptor, type I 274 Ig-like C2-type 3. innate immune response integral to plasma membrane interleukin-1, Type I, activating receptor activity|platelet-derived growth factor receptor binding breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|prostate(2)|skin(3) 19 Anakinra(DB00026) ACCCAGTGCTAGGGGAAGACT 0.398000 28 92 0 0 1 0 0 GIMAP6 474344 broad.mit.edu 37 7 150325067 150325067 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:150325067C>T ENST00000328902.5 - 3 835 c.619G>A c.(619-621)Gag>Aag p.E207K GIMAP6_ENST00000493969.1_3'UTR NM_001244072.1|NM_024711.5 NP_001231001.1|NP_078987.3 Q6P9H5 GIMA6_HUMAN GTPase, IMAP family member 6 207 GTP binding endometrium(4)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 29 OV - Ovarian serous cystadenocarcinoma(82;0.0145) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) GCCTCCTGCTCCTCCCCCTGT 0.537000 160 364 0 0 1 0 0 KAT8 84148 broad.mit.edu 37 16 31142523 31142523 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr16:31142523C>T ENST00000543774.2 + 12 1655 c.1320C>T c.(1318-1320)tcC>tcT p.S440S KAT8_ENST00000219797.4_Silent_p.S440S|KAT8_ENST00000448516.2_3'UTR Q9H7Z6 MYST1_HUMAN K(lysine) acetyltransferase 8 440 histone H4-K16 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent MLL1 complex|MSL complex histone acetyltransferase activity|metal ion binding|methylated histone residue binding|transcription factor binding CAGTGGACTCCGTCTGCCTCA 0.667000 18 58 0 0 1 0 0 TGM5 9333 broad.mit.edu 37 15 43531425 43531425 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr15:43531425C>T ENST00000220420.5 - 8 1048 c.1041G>A c.(1039-1041)aaG>aaA p.K347K TGM5_ENST00000349114.4_Silent_p.K265K NM_201631.3 NP_963925.2 O43548 TGM5_HUMAN transglutaminase 5 347 epidermis development|peptide cross-linking cytoplasm acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(11)|lung(15)|skin(6)|urinary_tract(1) 44 all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216) GBM - Glioblastoma multiforme(94;4e-07) L-Glutamine(DB00130) GGGGCAGATCCTTCCGGGCCA 0.577000 33 73 0 0 1 0 0 PKD1L1 168507 broad.mit.edu 37 7 47872703 47872703 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:47872703G>A ENST00000289672.2 - 41 6372 c.6322C>T c.(6322-6324)Cct>Tct p.P2108S NM_138295.3 NP_612152.1 Q8TDX9 PK1L1_HUMAN polycystic kidney disease 1 like 1 2108 cell-cell adhesion integral to membrane BBS9/PKD1L1(2) NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5) 142 GTGTGGGGAGGGCAGCAGTGG 0.602000 11 25 0 0 1 0 0 STYXL1 51657 broad.mit.edu 37 7 75625839 75625839 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:75625839C>T ENST00000248600.1 - 9 1231 c.889G>A c.(889-891)Gag>Aag p.E297K STYXL1_ENST00000431581.1_Missense_Mutation_p.E297K|STYXL1_ENST00000359697.3_Missense_Mutation_p.E297K|STYXL1_ENST00000360591.3_3'UTR|STYXL1_ENST00000340062.5_Missense_Mutation_p.E201K NM_016086.2 NP_057170.1 Q9Y6J8 STYL1_HUMAN serine/threonine/tyrosine interacting-like 1 297 Tyrosine-protein phosphatase. intracellular signal transduction|protein dephosphorylation intracellular protein binding|protein tyrosine/serine/threonine phosphatase activity endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(1) 10 ATAGTCTTCTCCCATTCCAGC 0.502000 34 116 0 0 1 0 0 PLCG2 5336 broad.mit.edu 37 16 81944261 81944261 + Missense_Mutation SNP T T A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr16:81944261T>A ENST00000359376.3 + 18 2084 c.1870T>A c.(1870-1872)Tgc>Agc p.C624S NM_002661.3 NP_002652.2 P16885 PLCG2_HUMAN phospholipase C, gamma 2 (phosphatidylinositol-specific) 624 SH2 1. intracellular signal transduction|phospholipid catabolic process|platelet activation plasma membrane phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1) 58 GCACCTGCGCTGCGCCGAGTT 0.632000 150 130 0 0 1 0 0 CCDC88B 283234 broad.mit.edu 37 11 64111803 64111803 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:64111803C>T ENST00000356786.5 + 14 1834 c.1790C>T c.(1789-1791)tCt>tTt p.S597F CCDC88B_ENST00000463837.1_3'UTR|CCDC88B_ENST00000301897.4_5'UTR NM_032251.5 NP_115627.6 A6NC98 CC88B_HUMAN coiled-coil domain containing 88B 597 microtubule cytoskeleton organization cytoplasm microtubule binding endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 CGTAGATCCTCTCTCCAGAGC 0.647000 33 68 0 0 1 0 0 PRAMEF10 343071 broad.mit.edu 37 1 12954833 12954833 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:12954833G>A ENST00000235347.4 - 3 529 c.450C>T c.(448-450)ttC>ttT p.F150F NM_001039361.3 NP_001034450.2 O60809 PRA10_HUMAN PRAME family member 10 150 NS(2)|breast(1)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1) 12 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) AGAGGTCTATGAACACCTTCA 0.537000 6 310 0 0 1 0 0 MGA 23269 broad.mit.edu 37 15 42003357 42003357 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr15:42003357C>T ENST00000219905.7 + 8 3075 c.2894C>T c.(2893-2895)cCa>cTa p.P965L MGA_ENST00000566586.1_Missense_Mutation_p.P965L|MGA_ENST00000545763.1_Missense_Mutation_p.P965L|MGA_ENST00000389936.4_Missense_Mutation_p.P965L|MGA_ENST00000570161.1_Missense_Mutation_p.P965L NM_001164273.1 NP_001157745.1 Q8IWI9 MGAP_HUMAN MGA, MAX dimerization protein 965 MLL1 complex DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238) OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235) AATATATTTCCAAAGCAGATT 0.448000 46 74 0 0 1 0 0 EYA4 2070 broad.mit.edu 37 6 133769254 133769254 + Missense_Mutation SNP A A C TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:133769254A>C ENST00000367895.5 + 5 678 c.214A>C c.(214-216)Aac>Cac p.N72H EYA4_ENST00000355286.6_Intron|EYA4_ENST00000355167.3_Missense_Mutation_p.N72H|EYA4_ENST00000431403.2_Missense_Mutation_p.N72H|EYA4_ENST00000452339.2_Intron|EYA4_ENST00000430974.2_Intron|EYA4_ENST00000525849.1_Intron|EYA4_ENST00000531901.1_Missense_Mutation_p.N72H NM_004100.4 NP_004091.3 O95677 EYA4_HUMAN eyes absent homolog 4 (Drosophila) 72 anatomical structure morphogenesis|chromatin modification|DNA repair|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception cytoplasm|nucleus metal ion binding|protein tyrosine phosphatase activity breast(1)|central_nervous_system(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|skin(1) 48 Colorectal(23;0.221) GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152) CTCAGGGGAAAACATGACTGT 0.433000 12 45 0 0 1 0 0 GOLGA2 2801 broad.mit.edu 37 9 131019965 131019965 + Missense_Mutation SNP T T A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:131019965T>A ENST00000421699.2 - 24 2564 c.2552A>T c.(2551-2553)cAg>cTg p.Q851L NM_004486.4 NP_004477.3 Q08379 GOGA2_HUMAN golgin A2 851 Golgi cisterna membrane protein binding NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 34 CCTCTGGCTCTGGTACAGTGC 0.622000 87 210 0 0 1 0 0 COL4A6 1288 broad.mit.edu 37 X 107414138 107414138 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chrX:107414138C>T ENST00000334504.7 - 34 3520 c.3287G>A c.(3286-3288)gGa>gAa p.G1096E COL4A6_ENST00000545689.1_Missense_Mutation_p.G1096E|COL4A6_ENST00000538570.1_Missense_Mutation_p.G1096E|COL4A6_ENST00000394872.2_Missense_Mutation_p.G1097E|COL4A6_ENST00000372216.4_Missense_Mutation_p.G1097E NM_033641.2 NP_378667.1 Q14031 CO4A6_HUMAN collagen, type IV, alpha 6 1097 Triple-helical region. cell adhesion|extracellular matrix organization collagen type IV extracellular matrix structural constituent|protein binding breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2) 92 TCCATCTCTTCCTTTTGTGCC 0.423000 Alport syndrome with Diffuse Leiomyomatosis 37 22 0 0 1 0 0 SLC35F2 54733 broad.mit.edu 37 11 107677585 107677585 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:107677585C>T ENST00000525071.1 - 7 1020 c.432G>A c.(430-432)ggG>ggA p.G144G SLC35F2_ENST00000265836.7_5'UTR|SLC35F2_ENST00000429869.1_Silent_p.G144G|SLC35F2_ENST00000375682.4_Silent_p.G97G|SLC35F2_ENST00000525815.1_Silent_p.G144G Q8IXU6 S35F2_HUMAN solute carrier family 35, member F2 144 transport integral to membrane breast(1)|central_nervous_system(1)|endometrium(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 8 all_cancers(61;9.46e-06)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;0.000111)|all_hematologic(158;0.000315)|all_epithelial(67;0.00197)|Breast(348;0.104) BRCA - Breast invasive adenocarcinoma(274;3.28e-05)|Epithelial(105;0.000105)|all cancers(92;0.00217) ACACAGGAATCCCAAAGCAAT 0.403000 27 46 0 0 1 0 0 ZNF718 255403 broad.mit.edu 37 4 155851 155851 + RNA SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:155851C>T ENST00000510175.1 + 0 1286 Q3SXZ3 ZN718_HUMAN zinc finger protein 718 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding all_cancers(4;0.0738)|all_epithelial(65;0.139) Lung(54;0.0681)|Epithelial(2;0.0838)|all cancers(2;0.135)|LUSC - Lung squamous cell carcinoma(95;0.18) TGCGGGAAAGCTTTTAAGCAG 0.368000 11 16 0 0 1 0 0 ADCY4 196883 broad.mit.edu 37 14 24795039 24795039 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr14:24795039C>T ENST00000310677.4 - 14 1823 c.1710G>A c.(1708-1710)aaG>aaA p.K570K ADCY4_ENST00000418030.2_Silent_p.K570K|ADCY4_ENST00000554068.2_Silent_p.K570K|ADCY4_ENST00000396747.3_Silent_p.K263K NM_001198568.1|NM_001198592.1|NM_139247.3 NP_001185497.1|NP_001185521.1|NP_640340.2 Q8NFM4 ADCY4_HUMAN adenylate cyclase 4 570 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport cytoplasm|integral to membrane|plasma membrane adenylate cyclase activity|ATP binding|metal ion binding|protein binding cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 GBM - Glioblastoma multiforme(265;0.0192) TCTCCATCTCCTTCTCTCTGA 0.567000 4 10 0 0 1 0 0 TUFT1 7286 broad.mit.edu 37 1 151535134 151535134 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:151535134C>T ENST00000368849.3 + 3 271 c.209C>T c.(208-210)tCc>tTc p.S70F TUFT1_ENST00000368848.2_Missense_Mutation_p.S45F|TUFT1_ENST00000538902.1_Missense_Mutation_p.S89F|TUFT1_ENST00000353024.3_Intron|TUFT1_ENST00000392712.3_Missense_Mutation_p.S45F NM_020127.2 NP_064512.1 Q9NNX1 TUFT1_HUMAN tuftelin 1 70 bone mineralization|odontogenesis cytoplasm|extracellular region structural constituent of tooth enamel cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1) 13 Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185) LUSC - Lung squamous cell carcinoma(543;0.181) CTGGTGGAGTCCCATGATGGA 0.517000 7 70 0 0 1 0 0 OR5L2 26338 broad.mit.edu 37 11 55594765 55594765 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:55594765G>A ENST00000378397.1 + 1 71 c.71G>A c.(70-72)aGa>aAa p.R24K NM_001004739.1 NP_001004739.1 Q8NGL0 OR5L2_HUMAN olfactory receptor, family 5, subfamily L, member 2 24 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 59 all_epithelial(135;0.208) CCTGAGTTGAGAGTCTGCCTC 0.498000 HNSCC(27;0.073) 91 204 0 0 1 0 0 PNPLA5 150379 broad.mit.edu 37 22 44277513 44277513 + Nonsense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr22:44277513C>T ENST00000216177.4 - 8 1256 c.1124G>A c.(1123-1125)tGg>tAg p.W375* PNPLA5_ENST00000593866.1_Nonsense_Mutation_p.W261*|PNPLA5_ENST00000381198.2_Nonsense_Mutation_p.W261*|PNPLA5_ENST00000597664.1_Nonsense_Mutation_p.W375* NM_138814.3 NP_620169.1 Q7Z6Z6 PLPL5_HUMAN patatin-like phospholipase domain containing 5 375 lipid catabolic process hydrolase activity endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1) 16 all_neural(38;0.0966)|Ovarian(80;0.105)|Glioma(61;0.222) GCCCTGCATCCACCACAAGTC 0.657000 11 38 0 0 1 0 0 LYPD4 147719 broad.mit.edu 37 19 42342254 42342254 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:42342254G>A ENST00000330743.3 - 4 1504 c.293C>T c.(292-294)cCa>cTa p.P98L LYPD4_ENST00000343055.4_Missense_Mutation_p.P63L|LYPD4_ENST00000601246.1_Missense_Mutation_p.P63L NM_173506.4 NP_775777.3 Q6UWN0 LYPD4_HUMAN LY6/PLAUR domain containing 4 98 anchored to membrane|plasma membrane breast(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(2) 12 CACTCCGGGTGGGGAAACAAG 0.537000 41 76 0 0 1 0 0 LILRA1 11024 broad.mit.edu 37 19 55112239 55112239 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:55112239G>A ENST00000453777.1 + 8 997 c.827G>A c.(826-828)gGg>gAg p.G276E LILRA1_ENST00000251372.3_Missense_Mutation_p.G476E|LILRB1_ENST00000448689.1_Intron|LILRB1_ENST00000418536.2_Intron|LILRB1_ENST00000396321.2_Intron|LILRA1_ENST00000473156.1_3'UTR NM_001278318.1 NP_001265247.1 O75019 LIRA1_HUMAN leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1 476 Ig-like C2-type 3. cell surface receptor linked signaling pathway|defense response|regulation of immune response integral to membrane|plasma membrane antigen binding|transmembrane receptor activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1) 47 GBM - Glioblastoma multiforme(193;0.0348) GTGGTCCTCGGGATTCTGCTA 0.567000 22 73 0 0 1 0 0 DHX38 9785 broad.mit.edu 37 16 72132922 72132922 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr16:72132922C>T ENST00000268482.3 + 6 1370 c.861C>T c.(859-861)acC>acT p.T287T DHX38_ENST00000536867.1_Intron NM_014003.3 NP_054722.2 Q92620 PRP16_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 38 287 mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription catalytic step 2 spliceosome|nucleoplasm ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding endometrium(5)|kidney(1)|large_intestine(16)|lung(15)|pancreas(1)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1) 48 Ovarian(137;0.125) TGGGGTCCACCCCGCGTCTGT 0.622000 18 15 0 0 1 0 0 FSHR 2492 broad.mit.edu 37 2 49190175 49190175 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:49190175G>A ENST00000406846.2 - 10 1904 c.1785C>T c.(1783-1785)gcC>gcT p.A595A FSHR_ENST00000304421.4_Silent_p.A569A|FSHR_ENST00000346173.3_Silent_p.A533A|FSHR_ENST00000541117.1_Silent_p.A331A NM_000145.3 NP_000136.2 P23945 FSHR_HUMAN follicle stimulating hormone receptor 595 female gamete generation|male gonad development|spermatogenesis integral to membrane|plasma membrane follicle-stimulating hormone receptor activity|protein binding NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 73 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094) CCTTGAGGGAGGCAGAAATGG 0.522000 Gonadal Dysgenesis, 46 XX 19 47 0 0 1 0 0 ZSCAN16 80345 broad.mit.edu 37 6 28094614 28094614 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:28094614G>A ENST00000340487.4 + 3 590 c.441G>A c.(439-441)ttG>ttA p.L147L RP1-265C24.9_ENST00000602810.1_RNA|RP1-265C24.9_ENST00000600652.1_RNA NM_025231.1 NP_079507.1 Q9H4T2 ZSC16_HUMAN zinc finger and SCAN domain containing 16 147 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding large_intestine(5)|liver(1)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 10 TGGCCCCCTTGGGAAGGCCAT 0.478000 21 49 0 0 1 0 0 SYK 6850 broad.mit.edu 37 9 93606222 93606222 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:93606222C>T ENST00000375754.4 + 2 190 c.42C>T c.(40-42)ccC>ccT p.P14P SYK_ENST00000375747.1_Silent_p.P14P|SYK_ENST00000375751.4_Silent_p.P14P|SYK_ENST00000375746.1_Silent_p.P14P|SYK_ENST00000476708.1_3'UTR NM_003177.5 NP_003168.2 P43405 KSYK_HUMAN spleen tyrosine kinase 14 cell proliferation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|neutrophil chemotaxis|organ morphogenesis|platelet activation|protein complex assembly cytosol|T cell receptor complex ATP binding|integrin binding|non-membrane spanning protein tyrosine kinase activity breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)|skin(2)|stomach(2) 26 ACCACCTGCCCTTCTTTTTCG 0.617000 T """ETV6, ITK""" """MDS, peripheral T-cell lymphoma""" 8 21 0 0 1 0 0 HNRNPK 3190 broad.mit.edu 37 9 86586869 86586869 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:86586869G>A ENST00000376263.3 - 11 1104 c.881C>T c.(880-882)cCc>cTc p.P294L HNRNPK_ENST00000376281.4_Missense_Mutation_p.P294L|HNRNPK_ENST00000351839.3_Missense_Mutation_p.P294L|HNRNPK_ENST00000376264.2_Missense_Mutation_p.P294L|HNRNPK_ENST00000360384.5_Missense_Mutation_p.P294L NM_031263.2 NP_112553.1 P61978 HNRPK_HUMAN heterogeneous nuclear ribonucleoprotein K 294 2 X 22 AA approximate repeats.|2 X 6 AA approximate repeats.|5 X 4 AA repeats of G-X-G-G.|Interaction with ZIK1 (By similarity).|Poly-Pro. interspecies interaction between organisms|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of receptor-mediated endocytosis|regulation of lipid transport by positive regulation of transcription from an RNA polymerase II promoter|regulation of low-density lipoprotein particle clearance|signal transduction catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nuclear chromatin|nucleoplasm protein binding|RNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|single-stranded DNA binding endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|stomach(1) 19 GCCTCGTCCGGGAGGAGGGGG 0.562000 52 82 0 0 1 0 0 EPHB6 2051 broad.mit.edu 37 7 142563789 142563789 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:142563789C>T ENST00000392957.2 + 9 1964 c.1177C>T c.(1177-1179)Cgg>Tgg p.R393W EPHB6_ENST00000411471.2_Missense_Mutation_p.R116W|EPHB6_ENST00000442129.1_Missense_Mutation_p.R393W NM_004445.3 NP_004436.2 O15197 EPHB6_HUMAN EPH receptor B6 393 Fibronectin type-III 1. extracellular region|integral to plasma membrane ATP binding|ephrin receptor activity NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1) 87 Melanoma(164;0.059) GCGCCTGCCTCGGGAGCTGGG 0.647000 10 53 0 0 1 0 0 TGIF2LX 90316 broad.mit.edu 37 X 89177088 89177088 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chrX:89177088G>A ENST00000561129.2 + 1 134 c.4G>A c.(4-6)Gag>Aag p.E2K TGIF2LX_ENST00000283891.5_Missense_Mutation_p.E2K Q8IUE1 TF2LX_HUMAN TGFB-induced factor homeobox 2-like, X-linked 2 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(29)|ovary(1)|skin(3)|urinary_tract(1) 40 TTGGAATATGGAGGCCGCTGC 0.537000 27 13 0 0 1 0 0 KIAA1324 57535 broad.mit.edu 37 1 109707275 109707275 + Silent SNP G G T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:109707275G>T ENST00000369939.3 + 3 612 c.429G>T c.(427-429)ctG>ctT p.L143L KIAA1324_ENST00000529753.1_Silent_p.L143L NM_020775.4 NP_065826.2 Q6UXG2 K1324_HUMAN KIAA1324 143 macroautophagy|positive regulation of vacuole organization|regulation of apoptosis integral to plasma membrane NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 34 all_epithelial(167;0.000102)|all_lung(203;0.000323)|Lung NSC(277;0.00063) Colorectal(144;0.0188)|Lung(183;0.0527)|COAD - Colon adenocarcinoma(174;0.14)|Epithelial(280;0.21)|all cancers(265;0.249) ACATGGAGCTGGATGACAGTG 0.622000 26 52 3.6726e-16 3.70437e-16 1 1 0 KCNH2 3757 broad.mit.edu 37 7 150645538 150645538 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:150645538C>T ENST00000392968.2 - 9 3518 c.2398G>A c.(2398-2400)Gac>Aac p.D800N KCNH2_ENST00000262186.5_Missense_Mutation_p.D896N|KCNH2_ENST00000330883.4_Missense_Mutation_p.D556N Q12809 KCNH2_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 2 896 blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent voltage-gated potassium channel complex delayed rectifier potassium channel activity|two-component sensor activity NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1) 42 all_neural(206;0.219) OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661) tcacccTTGTCCGTGCGCCTG 0.667000 10 66 0 0 1 0 0 PLCD1 5333 broad.mit.edu 37 3 38052904 38052904 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:38052904C>T ENST00000463876.1 - 5 1007 c.654G>A c.(652-654)gaG>gaA p.E218E PLCD1_ENST00000479619.1_5'UTR|PLCD1_ENST00000334661.4_Silent_p.E197E NM_001130964.1 NP_001124436.1 P51178 PLCD1_HUMAN phospholipase C, delta 1 197 intracellular signal transduction|lipid catabolic process|phospholipid metabolic process cytoplasm calcium ion binding|GTPase activating protein binding|phosphatidylinositol phospholipase C activity|signal transducer activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(6)|prostate(1)|skin(1) 24 KIRC - Kidney renal clear cell carcinoma(284;0.0519)|Kidney(284;0.0653) TCTCCTCGTCCTCCAGGGAGT 0.657000 8 75 0 0 1 0 0 SERPIND1 3053 broad.mit.edu 37 22 21138260 21138260 + Splice_Site SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr22:21138260G>A ENST00000215727.5 + 3 1173 c.889_splice c.e3-1 p.G297_splice PI4KA_ENST00000255882.6_Intron|SERPIND1_ENST00000406799.1_Splice_Site_p.G297_splice|PI4KA_ENST00000466162.1_Intron|PI4KA_ENST00000572273.1_Intron NM_000185.3 NP_000176.2 P05546 HEP2_HUMAN serpin peptidase inhibitor, clade D (heparin cofactor), member 1 297 blood coagulation|chemotaxis|regulation of proteolysis extracellular region heparin binding|serine-type endopeptidase inhibitor activity breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 13 all_cancers(11;6.16e-25)|all_epithelial(7;1.02e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196) Ardeparin(DB00407) GCCTTTACAGGATCCTGGGTG 0.478000 OREG0026325 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 29 336 0 0 1 0 0 ADAM19 8728 broad.mit.edu 37 5 156946855 156946855 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:156946855G>A ENST00000257527.4 - 6 670 c.592C>T c.(592-594)Cct>Tct p.P198S ADAM19_ENST00000394020.1_Missense_Mutation_p.P200S|ADAM19_ENST00000430702.2_5'UTR|ADAM19_ENST00000517905.1_Missense_Mutation_p.P198S NM_033274.3 NP_150377.1 Q9H013 ADA19_HUMAN ADAM metallopeptidase domain 19 198 proteolysis integral to membrane metalloendopeptidase activity|SH3 domain binding|zinc ion binding breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 53 Renal(175;0.00488) Medulloblastoma(196;0.0359)|all_neural(177;0.14) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) ACCCTGCGAGGTCGCTTCTTG 0.532000 47 124 0 0 1 0 0 ARL5A 26225 broad.mit.edu 37 2 152671700 152671700 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:152671700G>A ENST00000295087.8 - 2 371 c.60C>T c.(58-60)atC>atT p.I20I ARL5A_ENST00000428992.2_5'UTR NM_001037174.1|NM_012097.3 NP_001032251.1|NP_036229.1 Q9Y689 ARL5A_HUMAN ADP-ribosylation factor-like 5A 20 small GTPase mediated signal transduction intracellular GTP binding breast(1)|large_intestine(2)|liver(1)|lung(2) 6 BRCA - Breast invasive adenocarcinoma(221;0.153) GCCCAACAATGATAACTTTGT 0.274000 33 62 0 0 1 0 0 HTR3D 200909 broad.mit.edu 37 3 183756715 183756715 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:183756715C>T ENST00000382489.3 + 8 1317 c.1317C>T c.(1315-1317)ctC>ctT p.L439L HTR3D_ENST00000428798.2_Silent_p.L389L|HTR3D_ENST00000334128.2_Silent_p.L264L|HTR3D_ENST00000453435.1_Silent_p.L218L NM_001163646.1 NP_001157118.1 Q70Z44 5HT3D_HUMAN 5-hydroxytryptamine (serotonin) receptor 3D, ionotropic 439 integral to membrane|plasma membrane extracellular ligand-gated ion channel activity|receptor activity large_intestine(3)|lung(3)|prostate(1)|skin(1)|stomach(2) 10 all_cancers(143;2.33e-10)|Ovarian(172;0.0303) Epithelial(37;6.23e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22) TCTACCTGCTCTTCATGGCCT 0.592000 10 278 0 0 1 0 0 SCN3A 6328 broad.mit.edu 37 2 166003251 166003251 + Nonsense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:166003251G>A ENST00000360093.3 - 12 2160 c.1669C>T c.(1669-1671)Cag>Tag p.Q557* SCN3A_ENST00000283254.7_Nonsense_Mutation_p.Q557*|SCN3A_ENST00000409101.3_Nonsense_Mutation_p.Q557* NM_001081677.1 NP_001075146.1 Q9NY46 SCN3A_HUMAN sodium channel, voltage-gated, type III, alpha subunit 557 voltage-gated sodium channel complex voltage-gated sodium channel activity NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3) 120 Lamotrigine(DB00555) AATCATACCTGATGAGGGGAG 0.383000 52 100 0 0 1 0 0 OR5AR1 219493 broad.mit.edu 37 11 56432040 56432040 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:56432040G>A ENST00000302969.2 + 1 903 c.879G>A c.(877-879)cgG>cgA p.R293R NM_001004730.1 NP_001004730.1 Q8NGP9 O5AR1_HUMAN olfactory receptor, family 5, subfamily AR, member 1 (gene/pseudogene) 293 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(12)|prostate(1)|skin(3)|stomach(1) 26 ACAGTTTGCGGAACAAGGATG 0.403000 16 31 0 0 1 0 0 C15orf57 90416 broad.mit.edu 37 15 40849539 40849539 + Nonsense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr15:40849539G>A ENST00000358005.3 - 3 550 c.277C>T c.(277-279)Cag>Tag p.Q93* C15orf57_ENST00000559911.1_Nonsense_Mutation_p.Q93*|C15orf57_ENST00000558750.1_Nonsense_Mutation_p.Q102*|C15orf57_ENST00000558113.1_Nonsense_Mutation_p.Q93*|C15orf57_ENST00000558871.1_Nonsense_Mutation_p.Q93*|C15orf57_ENST00000416810.2_Nonsense_Mutation_p.Q93*|RP11-111A22.1_ENST00000561460.1_RNA|C15orf57_ENST00000561011.1_Nonsense_Mutation_p.Q93*|C15orf57_ENST00000560305.1_Nonsense_Mutation_p.Q93* NM_001080791.1|NM_052849.2 NP_001074260.1|NP_443081.1 Q9BV29 CO057_HUMAN chromosome 15 open reading frame 57 93 endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|stomach(1) 9 GTCACTTCCTGATTTAAACCT 0.403000 20 54 0 0 1 0 0 SLC17A1 6568 broad.mit.edu 37 6 25820126 25820126 + Nonsense_Mutation SNP C C T rs149708935 TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:25820126C>T ENST00000244527.4 - 4 340 c.225G>A c.(223-225)tgG>tgA p.W75* SLC17A1_ENST00000427328.1_Nonsense_Mutation_p.W75*|SLC17A1_ENST00000468082.1_Nonsense_Mutation_p.W75*|SLC17A1_ENST00000476801.1_Nonsense_Mutation_p.W75* NM_005074.3 NP_005065.2 Q14916 NPT1_HUMAN solute carrier family 17 (organic anion transporter), member 1 75 sodium ion transport|urate metabolic process integral to plasma membrane|membrane fraction sodium-dependent phosphate transmembrane transporter activity|symporter activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1) 36 TATCTGGGCTCCAATTATACA 0.408000 35 95 0 0 1 0 0 TRIM6 117854 broad.mit.edu 37 11 5624911 5624911 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:5624911G>A ENST00000380097.3 + 2 695 c.453G>A c.(451-453)caG>caA p.Q151Q TRIM6_ENST00000515022.1_Intron|AC015691.13_ENST00000394793.2_RNA|TRIM6_ENST00000507320.1_5'UTR|TRIM6_ENST00000445329.1_5'UTR|TRIM6_ENST00000278302.5_Silent_p.Q123Q|TRIM6_ENST00000380107.1_Silent_p.Q97Q|HBG2_ENST00000380259.2_Intron|TRIM6_ENST00000506134.1_Intron|TRIM6-TRIM34_ENST00000354852.5_Silent_p.Q151Q NM_001003818.2|NM_001198644.1|NM_001198645.1 NP_001003818.1|NP_001185573.1|NP_001185574.1 tripartite motif containing 6 breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|prostate(2)|stomach(1) 22 Lung NSC(207;2.23e-07)|all_lung(207;1.81e-06)|Medulloblastoma(188;0.00225)|Breast(177;0.0101)|all_neural(188;0.0212) Epithelial(150;1.12e-45)|BRCA - Breast invasive adenocarcinoma(625;0.00101)|LUSC - Lung squamous cell carcinoma(625;0.192) AGCGGTCTCAGGAGCACCGTG 0.547000 33 43 0 0 1 0 0 TRBC2 28638 broad.mit.edu 37 7 142499083 142499083 + RNA SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:142499083C>T ENST00000466254.1 + 0 359 TCACCCAGATCGTCAGCGCCG 0.597000 53 222 0 0 1 0 0 PCDHB11 56125 broad.mit.edu 37 5 140580724 140580724 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:140580724C>T ENST00000354757.3 + 1 1377 c.1377C>T c.(1375-1377)ttC>ttT p.F459F PCDHB11_ENST00000536699.1_Silent_p.F94F NM_018931.2 NP_061754.1 Q9Y5F2 PCDBB_HUMAN 459 Cadherin 5. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1) 63 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) ACACCCTGTTCGTCCGCGAGA 0.587000 94 203 0 0 1 0 0 LRRTM3 347731 broad.mit.edu 37 10 68687240 68687240 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:68687240G>A ENST00000361320.4 + 2 1144 c.566G>A c.(565-567)gGa>gAa p.G189E CTNNA3_ENST00000433211.1_Intron|CTNNA3_ENST00000494580.1_Intron|CTNNA3_ENST00000373744.4_Intron NM_178011.3 NP_821079.3 Q86VH5 LRRT3_HUMAN leucine rich repeat transmembrane neuronal 3 189 integral to membrane breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3) 41 TTGGACCTGGGATATAACCGG 0.473000 45 86 0 0 1 0 0 ANKRD34B 340120 broad.mit.edu 37 5 79854610 79854610 + Missense_Mutation SNP A A C TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:79854610A>C ENST00000338682.3 - 5 1901 c.1229T>G c.(1228-1230)tTg>tGg p.L410W NM_001004441.2 NP_001004441.2 A5PLL1 AN34B_HUMAN ankyrin repeat domain 34B 410 cytoplasm|nucleus NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1) 28 Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.113) OV - Ovarian serous cystadenocarcinoma(54;2.17e-46)|Epithelial(54;5.64e-41)|all cancers(79;3.24e-36) ATTCTCCAACAATTCTTTGGA 0.473000 8 141 0 0 1 0 0 FCRL1 115350 broad.mit.edu 37 1 157767729 157767729 + Splice_Site SNP A A G TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:157767729A>G ENST00000368176.3 - 9 1182 c.1114_splice c.e9-1 p.V372_splice FCRL1_ENST00000489998.1_5'UTR|FCRL1_ENST00000358292.3_Intron|FCRL1_ENST00000491942.1_Splice_Site_p.V372_splice NM_001159398.1|NM_052938.4 NP_001152870.1|NP_443170.1 Q96LA6 FCRL1_HUMAN Fc receptor-like 1 372 integral to membrane|plasma membrane receptor activity breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(24)|ovary(4)|prostate(1)|skin(6) 42 all_hematologic(112;0.0378) LUSC - Lung squamous cell carcinoma(543;0.24) TACAACATTCACTGCAAGAGA 0.473000 71 55 0 0 1 0 0 CDK5RAP2 55755 broad.mit.edu 37 9 123156862 123156862 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:123156862C>T ENST00000349780.4 - 36 5685 c.5506G>A c.(5506-5508)Gaa>Aaa p.E1836K CDK5RAP2_ENST00000359309.3_Missense_Mutation_p.E1795K|CDK5RAP2_ENST00000480467.1_5'UTR|CDK5RAP2_ENST00000360190.4_Missense_Mutation_p.E1757K|CDK5RAP2_ENST00000360822.3_Missense_Mutation_p.E1804K NM_018249.4 NP_060719.4 Q96SN8 CK5P2_HUMAN CDK5 regulatory subunit associated protein 2 1836 Interaction with PCNT and AKAP9. brain development|centrosome organization|chromosome segregation|G2/M transition of mitotic cell cycle|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint cytosol|Golgi apparatus|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1) 58 AACTTCTTTTCTTGTTCAAAC 0.388000 29 76 0 0 1 0 0 DCHS1 8642 broad.mit.edu 37 11 6654845 6654845 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:6654845C>T ENST00000299441.3 - 5 2664 c.2253G>A c.(2251-2253)cgG>cgA p.R751R RP11-732A19.6_ENST00000526633.1_RNA NM_003737.2 NP_003728.1 Q96JQ0 PCD16_HUMAN dachsous cadherin-related 1 751 Cadherin 7. calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4) 103 Medulloblastoma(188;0.00263)|all_neural(188;0.026) Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) CAGAATTGGCCCGTCTGGCCA 0.547000 5 4 0 0 1 0 0 HMP19 51617 broad.mit.edu 37 5 173473852 173473852 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:173473852G>A ENST00000303177.3 + 2 356 c.94G>A c.(94-96)Gag>Aag p.E32K NSG2_ENST00000521585.1_Missense_Mutation_p.E32K NM_015980.4 NP_057064.1 CACTCCCTTGGAGGTTAATCA 0.537000 89 179 0 0 1 0 0 RYR1 6261 broad.mit.edu 37 19 38948716 38948716 + Nonsense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:38948716C>T ENST00000355481.4 + 18 2082 c.1951C>T c.(1951-1953)Cga>Tga p.R651* RYR1_ENST00000360985.3_Nonsense_Mutation_p.R651*|RYR1_ENST00000359596.3_Nonsense_Mutation_p.R651* NM_000540.2|NM_001042723.1 NP_000531.2|NP_001036188.1 P21817 RYR1_HUMAN ryanodine receptor 1 (skeletal) 651 B30.2/SPRY 1. muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7) 285 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) CTTTGTGGGCCGAGCGGAAGG 0.597000 54 126 0 0 1 0 0 TLR7 51284 broad.mit.edu 37 X 12903771 12903771 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chrX:12903771C>T ENST00000380659.3 + 3 283 c.144C>T c.(142-144)atC>atT p.I48I NM_016562.3 NP_057646.1 Q9NYK1 TLR7_HUMAN toll-like receptor 7 48 cellular response to mechanical stimulus|defense response to virus|I-kappaB phosphorylation|inflammatory response|innate immune response|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus early phagosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosome|plasma membrane double-stranded RNA binding|single-stranded RNA binding|siRNA binding|transmembrane receptor activity NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 44 Imiquimod(DB00724) ACCATGTGATCGTGGACTGCA 0.453000 6 202 0 0 1 0 0 KANSL1L 151050 broad.mit.edu 37 2 211019170 211019170 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:211019170G>A ENST00000281772.9 - 2 400 c.137C>T c.(136-138)tCt>tTt p.S46F KANSL1L_ENST00000429908.2_5'UTR|KANSL1L_ENST00000418791.1_Missense_Mutation_p.S46F|KANSL1L_ENST00000457374.1_Missense_Mutation_p.S46F|KANSL1L_ENST00000452086.1_Missense_Mutation_p.S46F NM_152519.2 NP_689732.2 A0AUZ9 CB067_HUMAN KAT8 regulatory NSL complex subunit 1-like 46 AAGCATCTGAGAAAAGGTGTC 0.393000 17 144 0 0 1 0 0 EFCAB6 64800 broad.mit.edu 37 22 43933305 43933305 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr22:43933305C>T ENST00000262726.7 - 29 4253 c.4000G>A c.(4000-4002)Gag>Aag p.E1334K EFCAB6_ENST00000396231.2_Missense_Mutation_p.E1182K|EFCAB6_ENST00000461800.1_5'UTR NM_022785.3 NP_073622.2 Q5THR3 EFCB6_HUMAN EF-hand calcium binding domain 6 1334 Interaction with PARK7. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus calcium ion binding breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 68 Ovarian(80;0.0247)|all_neural(38;0.025) ACGTCCTTCTCCTTGCATTCT 0.567000 77 164 0 0 1 0 0 COL9A1 1297 broad.mit.edu 37 6 70972963 70972963 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:70972963C>T ENST00000357250.6 - 19 1537 c.1379G>A c.(1378-1380)gGa>gAa p.G460E COL9A1_ENST00000370499.4_Missense_Mutation_p.G217E|COL9A1_ENST00000489611.1_5'UTR|COL9A1_ENST00000320755.7_Missense_Mutation_p.G217E NM_001851.4 NP_001842.3 P20849 CO9A1_HUMAN collagen, type IX, alpha 1 460 Triple-helical region (COL2). axon guidance|cell adhesion|organ morphogenesis collagen type IX metal ion binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4) 80 TCCTTGAGCTCCAACTTCTCC 0.313000 34 12 0 0 1 0 0 FASTK 10922 broad.mit.edu 37 7 150776590 150776590 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:150776590G>A ENST00000540185.1 - 2 1004 c.400C>T c.(400-402)Ctt>Ttt p.L134F FASTK_ENST00000353841.2_Intron|FASTK_ENST00000297532.6_Missense_Mutation_p.L168F|FASTK_ENST00000489884.1_Intron|FASTK_ENST00000482571.1_Missense_Mutation_p.L168F Q14296 FASTK_HUMAN Fas-activated serine/threonine kinase 168 apoptosis|induction of apoptosis by extracellular signals|regulation of RNA splicing ATP binding|Fas-activated serine/threonine kinase activity|protein binding lung(4)|stomach(2) 6 OV - Ovarian serous cystadenocarcinoma(82;0.00989) UCEC - Uterine corpus endometrioid carcinoma (81;0.168)|LUSC - Lung squamous cell carcinoma(290;0.0718)|Lung(243;0.138) TCCTCACCAAGTAAGACTGCA 0.562000 10 91 0 0 1 0 0 ASAP1 50807 broad.mit.edu 37 8 131088631 131088631 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:131088631G>A ENST00000357668.1 - 26 2691 c.2664C>T c.(2662-2664)gcC>gcT p.A888A ASAP1_ENST00000518721.1_Silent_p.A888A Q9ULH1 ASAP1_HUMAN ArfGAP with SH3 domain, ankyrin repeat and PH domain 1 888 Pro-rich. cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction cytoplasm|membrane ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1) 68 TTGGGCCAAGGGCAGTCTTTG 0.358000 28 52 0 0 1 0 0 MYLK2 85366 broad.mit.edu 37 20 30409458 30409458 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr20:30409458C>T ENST00000375994.2 + 3 963 c.690C>T c.(688-690)ttC>ttT p.F230F MYLK2_ENST00000375985.4_Silent_p.F230F Q9H1R3 MYLK2_HUMAN myosin light chain kinase 2 230 cardiac muscle tissue morphogenesis|regulation of muscle filament sliding ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(2) 33 Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347) GGATTGAGTTCCAGGCTGTTC 0.602000 54 172 0 0 1 0 0 LINC00264 645528 broad.mit.edu 37 10 26880331 26880331 + RNA SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:26880331G>A ENST00000412114.1 + 0 566 NR_026793.1 AACACATGCTGAAACATGGAA 0.502000 21 42 0 0 1 0 0 GPRC6A 222545 broad.mit.edu 37 6 117113512 117113512 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:117113512G>A ENST00000310357.3 - 6 2595 c.2574C>T c.(2572-2574)tcC>tcT p.S858S GPRC6A_ENST00000368549.3_Silent_p.S787S|GPRC6A_ENST00000530250.1_Silent_p.S683S NM_148963.2 NP_683766.2 Q5T6X5 GPC6A_HUMAN G protein-coupled receptor, family C, group 6, member A 858 response to amino acid stimulus G-protein coupled receptor activity autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3) 65 all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234) GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07) TCACACTATGGGAAGAATAAC 0.443000 37 107 0 0 1 0 0 IARS 3376 broad.mit.edu 37 9 95033876 95033876 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:95033876G>A ENST00000375643.3 - 11 1318 c.1052C>T c.(1051-1053)cCt>cTt p.P351L IARS_ENST00000443024.2_Missense_Mutation_p.P351L|IARS_ENST00000447699.2_Missense_Mutation_p.P241L|IARS_ENST00000375629.3_5'UTR NM_013417.2 NP_038203.2 P41252 SYIC_HUMAN isoleucyl-tRNA synthetase 351 isoleucyl-tRNA aminoacylation cytosol|nucleus|soluble fraction ATP binding|isoleucine-tRNA ligase activity|protein binding p.P351H(1) breast(3)|endometrium(2)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 35 L-Isoleucine(DB00167) AGCATCCACAGGGCAAACAGG 0.448000 58 85 0 0 1 0 0 UGT1A6 54578 broad.mit.edu 37 2 234601955 234601955 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:234601955G>A ENST00000305139.6 + 1 444 c.305G>A c.(304-306)cGa>cAa p.R102Q UGT1A6_ENST00000480628.1_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A8_ENST00000373450.4_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A10_ENST00000344644.5_Intron NM_001072.3 NP_001063.2 central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(1) 22 Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128) Epithelial(121;5.86e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000384)|Lung(119;0.00306)|LUSC - Lung squamous cell carcinoma(224;0.00702) TTTGCTGAGCGATCATTCCTA 0.443000 24 60 0 0 1 0 0 ADCYAP1R1 117 broad.mit.edu 37 7 31120239 31120239 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:31120239G>A ENST00000304166.4 + 5 566 c.277G>A c.(277-279)Gaa>Aaa p.E93K ADCYAP1R1_ENST00000396211.2_Missense_Mutation_p.E93K|ADCYAP1R1_ENST00000409489.1_Missense_Mutation_p.E93K|ADCYAP1R1_ENST00000409363.1_Intron NM_001118.4|NM_001199635.1|NM_001199636.1 NP_001109.2|NP_001186564.1|NP_001186565.1 P41586 PACR_HUMAN adenylate cyclase activating polypeptide 1 (pituitary) receptor type I 93 activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|spermatogenesis integral to plasma membrane vasoactive intestinal polypeptide receptor activity endometrium(1)|large_intestine(4)|liver(2)|lung(24)|ovary(1)|skin(2)|stomach(1) 35 CTGGGAGACCGAAACCATTGG 0.562000 30 37 0 0 1 0 0 CAPSL 133690 broad.mit.edu 37 5 35904666 35904666 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:35904666C>T ENST00000397367.2 - 5 734 c.608G>A c.(607-609)aGa>aAa p.R203K CAPSL_ENST00000397366.1_Missense_Mutation_p.R203K NM_144647.3 NP_653248.3 Q8WWF8 CAPSL_HUMAN calcyphosine-like 203 cytoplasm calcium ion binding central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(10)|skin(1)|urinary_tract(1) 19 all_lung(31;0.000268) Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.167)|Colorectal(62;0.202) CCAGGCGGTTCTCATCATGAT 0.488000 32 103 0 0 1 0 0 IGKV3D-11 28876 broad.mit.edu 37 2 90211999 90211999 + RNA SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:90211999C>T ENST00000390277.2 + 0 188 TCCAGCCACCCTGTCTTTGTC 0.498000 21 78 0 0 1 0 0 SHANK1 50944 broad.mit.edu 37 19 51169908 51169908 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:51169908G>A ENST00000293441.1 - 22 5327 c.5309C>T c.(5308-5310)cCt>cTt p.P1770L SHANK1_ENST00000391813.1_Missense_Mutation_p.P1157L|SYT3_ENST00000544769.1_Intron|SHANK1_ENST00000391814.1_Missense_Mutation_p.P1778L|SHANK1_ENST00000359082.3_Missense_Mutation_p.P1761L NM_016148.2 NP_057232.2 Q9Y566 SHAN1_HUMAN SH3 and multiple ankyrin repeat domains 1 1770 cytoskeletal anchoring at plasma membrane cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane ionotropic glutamate receptor binding breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3) 64 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199) GCTGGGGCCAGGCCGCAGGCC 0.701000 7 9 0 0 1 0 0 PCDHB5 26167 broad.mit.edu 37 5 140517365 140517365 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:140517365G>A ENST00000231134.5 + 1 2566 c.2349G>A c.(2347-2349)ggG>ggA p.G783G NM_015669.2 NP_056484.1 Q9Y5E4 PCDB5_HUMAN 783 calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding|protein binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2) 81 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) AAGAAATAGGGAAAACTGCTG 0.468000 54 143 0 0 1 0 0 QKI 9444 broad.mit.edu 37 6 163984643 163984643 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:163984643C>T ENST00000361752.3 + 6 1377 c.826C>T c.(826-828)Cct>Tct p.P276S QKI_ENST00000392127.2_Missense_Mutation_p.P276S|QKI_ENST00000361195.2_Missense_Mutation_p.P268S|QKI_ENST00000275262.7_Missense_Mutation_p.P276S|QKI_ENST00000424802.3_Missense_Mutation_p.P268S|QKI_ENST00000453779.2_Missense_Mutation_p.P276S NM_006775.2|NM_206853.2|NM_206854.2|NM_206855.2 NP_006766.1|NP_996735.1|NP_996736.1|NP_996737.1 Q96PU8 QKI_HUMAN QKI, KH domain containing, RNA binding 276 mRNA processing|mRNA transport|regulation of translation|RNA splicing cytoplasm|nucleus|plasma membrane RNA binding|SH3 domain binding central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(5)|ovary(1)|prostate(3)|urinary_tract(2) 27 Breast(66;5e-05)|Prostate(117;0.0235)|all_neural(5;0.0416)|Ovarian(120;0.0448)|Glioma(2;0.203) all cancers(1;4.4e-46)|OV - Ovarian serous cystadenocarcinoma(33;6.91e-23)|GBM - Glioblastoma multiforme(1;2.94e-19)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|Kidney(3;0.000199)|KIRC - Kidney renal clear cell carcinoma(3;0.000234) TGCAATAGTTCCTCCAGGGCC 0.493000 5 122 0 0 1 0 0 PCDHGA4 56111 broad.mit.edu 37 5 140734918 140734918 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:140734918G>A ENST00000571252.1 + 1 151 c.151G>A c.(151-153)Gac>Aac p.D51N PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron NM_018917.2 NP_061740.1 endometrium(1)|kidney(1)|lung(3) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CATCGCCAAGGACCTGGGGTT 0.632000 42 132 0 0 1 0 0 ZGPAT 84619 broad.mit.edu 37 20 62340246 62340246 + Missense_Mutation SNP C C T rs6089764 TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr20:62340246C>T ENST00000328969.5 + 2 441 c.314C>T c.(313-315)cCt>cTt p.P105L ZGPAT_ENST00000357119.4_Missense_Mutation_p.P105L|ZGPAT_ENST00000448100.1_Missense_Mutation_p.P105L|ZGPAT_ENST00000355969.6_Missense_Mutation_p.P105L|ZGPAT_ENST00000369967.3_Missense_Mutation_p.P105L|ZGPAT_ENST00000490623.1_3'UTR NM_032527.4 NP_115916.3 Q8N5A5 ZGPAT_HUMAN zinc finger, CCCH-type with G patch domain 105 negative regulation of epidermal growth factor receptor activity|negative regulation of transcription, DNA-dependent nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1) 14 all_cancers(38;1.13e-12)|all_epithelial(29;2.64e-14)|Lung NSC(23;4.79e-10)|all_lung(23;1.7e-09) GAGACCGTTCCTAAAGCAGAG 0.652000 5 93 0 0 1 0 0 DYNC2H1 79659 broad.mit.edu 37 11 103057046 103057046 + Nonsense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:103057046C>T ENST00000375735.2 + 42 6853 c.6709C>T c.(6709-6711)Cga>Tga p.R2237* DYNC2H1_ENST00000398093.3_Nonsense_Mutation_p.R2237*|DYNC2H1_ENST00000334267.7_Intron NM_001080463.1|NM_001377.2 NP_001073932.1|NP_001368.2 Q8NCM8 DYHC2_HUMAN dynein, cytoplasmic 2, heavy chain 1 2237 cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane ATP binding|ATPase activity|microtubule motor activity NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2) 33 Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348) BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785) TACTAGGGGTCGATTAGCAAC 0.418000 25 21 0 0 1 0 0 EXOC3L1 283849 broad.mit.edu 37 16 67221583 67221583 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr16:67221583G>A ENST00000314586.6 - 5 825 c.585C>T c.(583-585)ttC>ttT p.F195F EXOC3L1_ENST00000562887.1_Intron NM_178516.3 NP_848611.2 Q86VI1 EX3L1_HUMAN exocyst complex component 3-like 1 195 Mediates interaction with EXOC2, EXOC4 and EXOC5 (By similarity). exocytosis|peptide hormone secretion exocyst|stored secretory granule|transport vesicle breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|skin(3)|upper_aerodigestive_tract(1) 21 CCAGTGCCTCGAACAGAAGGT 0.672000 28 22 0 0 1 0 0 KRT38 8687 broad.mit.edu 37 17 39595534 39595534 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:39595534G>A ENST00000246646.3 - 3 652 c.653C>T c.(652-654)aCc>aTc p.T218I NM_006771.3 NP_006762.3 O76015 KRT38_HUMAN keratin 38 218 Coil 1B.|Rod. intermediate filament structural molecule activity breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 29 Breast(137;0.000496) CTTGGCCAGGGTCGCATCATC 0.632000 40 75 0 0 1 0 0 FARSB 10056 broad.mit.edu 37 2 223464735 223464735 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:223464735G>A ENST00000281828.6 - 16 1793 c.1530C>T c.(1528-1530)atC>atT p.I510I FARSB_ENST00000536361.1_Silent_p.I411I NM_005687.3 NP_005678.3 Q9NSD9 SYFB_HUMAN phenylalanyl-tRNA synthetase, beta subunit 510 phenylalanyl-tRNA aminoacylation cytosol|soluble fraction ATP binding|magnesium ion binding|phenylalanine-tRNA ligase activity|RNA binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 24 Renal(207;0.0183) Epithelial(121;3.47e-10)|all cancers(144;1.86e-07)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.011) L-Phenylalanine(DB00120) GCCCATGAATGATCTCAAACC 0.433000 70 111 0 0 1 0 0 LMO7 4008 broad.mit.edu 37 13 76415879 76415879 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr13:76415879G>A ENST00000357063.3 + 25 5207 c.3947G>A c.(3946-3948)cGa>cAa p.R1316Q LMO7_ENST00000465261.2_Missense_Mutation_p.R1031Q|LMO7_ENST00000341547.4_Missense_Mutation_p.R982Q|LMO7_ENST00000526202.1_Missense_Mutation_p.R908Q|LMO7_ENST00000321797.8_Missense_Mutation_p.R1031Q|LMO7_ENST00000377534.3_Missense_Mutation_p.R1316Q Q8WWI1 LMO7_HUMAN LIM domain 7 1316 cytoplasm|nucleus|ubiquitin ligase complex ubiquitin-protein ligase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 56 Breast(118;0.0992) GBM - Glioblastoma multiforme(99;0.0109) GAAGGAACCCGAGCAGGAGAA 0.527000 52 69 0 0 1 0 0 URB2 9816 broad.mit.edu 37 1 229773937 229773937 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:229773937C>T ENST00000258243.2 + 4 3713 c.3577C>T c.(3577-3579)Ccc>Tcc p.P1193S NM_014777.2 NP_055592.2 Q14146 URB2_HUMAN URB2 ribosome biogenesis 2 homolog (S. cerevisiae) 1193 nucleolus breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6) 73 AGAACTGCATCCCAAAAAGGA 0.443000 98 111 0 0 1 0 0 GAREM 64762 broad.mit.edu 37 18 29867536 29867536 + Missense_Mutation SNP C C G TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr18:29867536C>G ENST00000399218.4 - 4 1079 c.1024G>C c.(1024-1026)Gct>Cct p.A342P RP11-344B2.2_ENST00000579580.1_RNA|GAREM_ENST00000269209.6_Missense_Mutation_p.A342P NM_001242409.1|NM_022751.2 NP_001229338.1|NP_073588.1 GRB2 associated, regulator of MAPK1 TCACGGACAGCCCGTGAATAC 0.557000 49 69 0 0 1 0 0 DUSP27 92235 broad.mit.edu 37 1 167064111 167064111 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:167064111G>A ENST00000361200.2 + 2 191 c.25G>A c.(25-27)Gag>Aag p.E9K DUSP27_ENST00000443333.1_Missense_Mutation_p.E9K|DUSP27_ENST00000271385.5_Missense_Mutation_p.E9K Q5VZP5 DUS27_HUMAN dual specificity phosphatase 27 (putative) 9 protein dephosphorylation protein tyrosine/serine/threonine phosphatase activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3) 89 GGACACAGAGGAGGAGCAGGT 0.557000 9 20 0 0 1 0 0 PSG7 5676 broad.mit.edu 37 19 43430025 43430025 + RNA SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:43430025G>A ENST00000446844.3 - 0 1232 PSG7_ENST00000406070.2_RNA Q13046 PSG7_HUMAN pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene) female pregnancy extracellular region Prostate(69;0.00682) TAATCTGGGGGATAGAAAGCT 0.473000 111 333 0 0 1 0 0 LUC7L 55692 broad.mit.edu 37 16 242975 242975 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr16:242975G>A ENST00000337351.4 - 7 850 c.727C>T c.(727-729)Cgc>Tgc p.R243C LUC7L_ENST00000293872.8_Missense_Mutation_p.R243C|LUC7L_ENST00000397783.1_Missense_Mutation_p.R243C|LUC7L_ENST00000397780.1_Missense_Mutation_p.R190C NM_018032.3 NP_060502.1 Q9NQ29 LUC7L_HUMAN LUC7-like (S. cerevisiae) 243 Arg/Ser-rich. metal ion binding NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1) 11 all_cancers(16;1.1e-06)|all_epithelial(16;2.71e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.0138)|all_lung(18;0.0306) CTCCTCAAGCGATCCTGATTT 0.507000 122 220 0 0 1 0 0 ELMO1 9844 broad.mit.edu 37 7 37253052 37253052 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:37253052C>T ENST00000310758.4 - 12 1489 c.842G>A c.(841-843)cGa>cAa p.R281Q ELMO1_ENST00000448602.1_Missense_Mutation_p.R281Q|ELMO1_ENST00000442504.1_Missense_Mutation_p.R281Q NM_001206480.1|NM_014800.10 NP_001193409.1|NP_055615.8 Q92556 ELMO1_HUMAN engulfment and cell motility 1 281 actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction cytoskeleton|cytosol|plasma membrane SH3 domain binding breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 58 CCGCTGGGCTCGGATGACATG 0.433000 23 25 0 0 1 0 0 GPR98 84059 broad.mit.edu 37 5 89949567 89949567 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:89949567C>T ENST00000405460.2 + 20 4272 c.4176C>T c.(4174-4176)tcC>tcT p.S1392S NM_032119.3 NP_115495.3 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 1392 cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6) 269 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) CAAACGAATCCCATGTGACAC 0.393000 13 19 0 0 1 0 0 SPATS1 221409 broad.mit.edu 37 6 44310937 44310937 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:44310937G>A ENST00000288390.2 + 1 452 c.105G>A c.(103-105)agG>agA p.R35R SPATS1_ENST00000323108.8_Silent_p.R35R Q496A3 SPAS1_HUMAN spermatogenesis associated, serine-rich 1 35 NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(2)|lung(5)|skin(1)|urinary_tract(1) 14 all_lung(25;0.00469)|Ovarian(13;0.0273)|all_hematologic(164;0.208) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) CAGAAAAAAGGGACTCTGGCA 0.567000 22 112 0 0 1 0 0 GBP5 115362 broad.mit.edu 37 1 89734500 89734500 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:89734500C>T ENST00000343435.5 - 4 766 c.230G>A c.(229-231)gGa>gAa p.G77E RP4-620F22.2_ENST00000437128.1_RNA|GBP5_ENST00000370459.3_Missense_Mutation_p.G77E NM_001134486.2|NM_052942.3 NP_001127958.1|NP_443174.1 Q96PP8 GBP5_HUMAN guanylate binding protein 5 77 plasma membrane GTP binding|GTPase activity breast(1)|endometrium(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1) 24 all cancers(265;0.00784)|Epithelial(280;0.0286) TATCCAAATTCCCTTGGTGTG 0.488000 35 74 0 0 1 0 0 FIG4 9896 broad.mit.edu 37 6 110146311 110146311 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:110146311C>T ENST00000230124.3 + 23 2691 c.2567C>T c.(2566-2568)tCg>tTg p.S856L FIG4_ENST00000441478.2_Missense_Mutation_p.S550L NM_014845.5 NP_055660.1 Q92562 FIG4_HUMAN FIG4 homolog, SAC1 lipid phosphatase domain containing (S. cerevisiae) 856 cell death endosome membrane protein binding central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2) 32 all_cancers(87;8.63e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000124)|all_lung(197;0.0187)|Colorectal(196;0.0492)|Lung SC(18;0.0548) OV - Ovarian serous cystadenocarcinoma(136;0.0355)|Epithelial(106;0.038)|all cancers(137;0.0425)|BRCA - Breast invasive adenocarcinoma(108;0.079) TCGGCTTTCTCGCAAGATAAC 0.458000 12 142 0 0 1 0 0 FLG2 388698 broad.mit.edu 37 1 152324906 152324906 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:152324906C>T ENST00000388718.5 - 3 5428 c.5356G>A c.(5356-5358)Gga>Aga p.G1786R FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA NM_001014342.2 NP_001014364.1 Q5D862 FILA2_HUMAN filaggrin family member 2 1786 calcium ion binding|structural molecule activity NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 188 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GTGGACTGTCCATGACCAGAG 0.512000 8 457 0 0 1 0 0 C16orf62 57020 broad.mit.edu 37 16 19590362 19590362 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr16:19590362C>T ENST00000448695.1 + 1 56 c.56C>T c.(55-57)tCa>tTa p.S19L C16orf62_ENST00000251143.5_Intron|C16orf62_ENST00000542263.1_Intron|C16orf62_ENST00000417362.2_Intron|C16orf62_ENST00000538853.1_Intron|C16orf62_ENST00000438132.3_Intron|C16orf62_ENST00000543152.1_5'UTR Q7Z3J2 CP062_HUMAN chromosome 16 open reading frame 62 0 integral to membrane breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2) 36 GACGTAAATTCATTCTGTTTA 0.498000 15 20 0 0 1 0 0 HTR4 3360 broad.mit.edu 37 5 147830817 147830817 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:147830817C>T ENST00000354217.2 - 7 1258 c.1095G>A c.(1093-1095)agG>agA p.R365R HTR4_ENST00000314512.6_3'UTR|HTR4_ENST00000521735.1_3'UTR|HTR4_ENST00000521530.1_Silent_p.R365R Q13639 5HT4R_HUMAN 5-hydroxytryptamine (serotonin) receptor 4, G protein-coupled 0 G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cell proliferation endosome|integral to plasma membrane|membrane fraction serotonin receptor activity endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) Cisapride(DB00604)|Rizatriptan(DB00953)|Tegaserod(DB01079)|Zolmitriptan(DB00315) GATGATGTCCCCTGTGCAGAA 0.478000 8 196 0 0 1 0 0 IGSF1 3547 broad.mit.edu 37 X 130415911 130415911 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chrX:130415911G>A ENST00000370904.1 - 14 2137 c.1227C>T c.(1225-1227)ccC>ccT p.P409P IGSF1_ENST00000370910.1_Silent_p.P409P|IGSF1_ENST00000361420.3_Silent_p.P418P|IGSF1_ENST00000370903.3_Silent_p.P418P Q8N6C5 IGSF1_HUMAN immunoglobulin superfamily, member 1 418 regulation of transcription, DNA-dependent extracellular region|integral to membrane inhibin beta-A binding|inhibin beta-B binding breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2) 78 AGGGTTTGGGGGGCTTATCTG 0.502000 5 57 0 0 1 0 0 MNDA 4332 broad.mit.edu 37 1 158817632 158817632 + Nonsense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:158817632C>T ENST00000368141.4 + 6 1363 c.1102C>T c.(1102-1104)Cga>Tga p.R368* NM_002432.1 NP_002423.1 P41218 MNDA_HUMAN myeloid cell nuclear differentiation antigen 368 HIN-200. B cell receptor signaling pathway|cellular defense response|negative regulation of B cell proliferation|positive regulation of apoptosis|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent cytoplasm|nucleus DNA binding NS(2)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(26)|ovary(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 65 all_hematologic(112;0.0378) AGATAAACTTCGACTCTTCTG 0.433000 71 104 0 0 1 0 0 GORASP2 26003 broad.mit.edu 37 2 171822373 171822373 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:171822373C>T ENST00000234160.4 + 10 1907 c.1092C>T c.(1090-1092)ttC>ttT p.F364F GORASP2_ENST00000493692.1_3'UTR|GORASP2_ENST00000452526.2_Silent_p.F376F NM_001201428.1|NM_015530.4 NP_001188357.1|NP_056345.3 Q9H8Y8 GORS2_HUMAN golgi reassembly stacking protein 2, 55kDa 364 Pro-rich. Golgi membrane breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1) 14 CATCCGAGTTCCTCCCGTCAT 0.587000 50 114 0 0 1 0 0 ADCY5 111 broad.mit.edu 37 3 123033100 123033100 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:123033100C>T ENST00000462833.1 - 12 3636 c.2424G>A c.(2422-2424)gtG>gtA p.V808V ADCY5_ENST00000309879.5_Silent_p.V458V|ADCY5_ENST00000491190.1_Silent_p.V441V NM_183357.2 NP_899200.1 O95622 ADCY5_HUMAN adenylate cyclase 5 808 activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|plasma membrane adenylate cyclase activity|ATP binding|metal ion binding breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2) 60 GBM - Glioblastoma multiforme(114;0.0342) AGGAGTAGATCACAGACACAA 0.567000 15 43 0 0 1 0 0 CHRD 8646 broad.mit.edu 37 3 184104452 184104452 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:184104452C>T ENST00000204604.1 + 16 2351 c.2105C>T c.(2104-2106)cCc>cTc p.P702L CHRD_ENST00000450923.1_Missense_Mutation_p.P702L|EIF2B5_ENST00000444495.1_Intron|CHRD_ENST00000545352.1_Intron|CHRD_ENST00000348986.3_Missense_Mutation_p.P662L NM_003741.2 NP_003732.2 Q9H2X0 CHRD_HUMAN chordin 702 BMP signaling pathway involved in spinal cord dorsal/ventral patterning|floor plate development|negative regulation of BMP signaling pathway|negative regulation of cell migration|positive regulation of cell adhesion|skeletal system development extracellular space cytokine binding NS(1)|biliary_tract(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(23)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 48 all_cancers(143;6.33e-11)|Ovarian(172;0.0339) Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) CCCCGAGACCCCAACACATGC 0.706000 14 35 0 0 1 0 0 ZNF804B 219578 broad.mit.edu 37 7 88956681 88956681 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:88956681G>A ENST00000333190.4 + 3 882 c.273G>A c.(271-273)cgG>cgA p.R91R NM_181646.2 NP_857597.1 A4D1E1 Z804B_HUMAN zinc finger protein 804B 91 intracellular zinc ion binding NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9) 144 all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151) STAD - Stomach adenocarcinoma(171;0.0513) TAAAGCAACGGGAATTTGCTC 0.333000 HNSCC(36;0.09) 40 137 0 0 1 0 0 SLC17A2 10246 broad.mit.edu 37 6 25915972 25915972 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:25915972G>A ENST00000377850.3 - 9 1579 c.1055C>T c.(1054-1056)tCa>tTa p.S352L SLC17A2_ENST00000360488.3_Missense_Mutation_p.S352L|SLC17A2_ENST00000265425.3_Missense_Mutation_p.S352L O00624 NPT3_HUMAN solute carrier family 17, member 2 352 phosphate metabolic process integral to plasma membrane|membrane fraction sodium:phosphate symporter activity endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 31 ACCAAGAGATGAAAAGAGCTT 0.473000 28 119 0 0 1 0 0 MAPK8IP2 23542 broad.mit.edu 37 22 51040272 51040272 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr22:51040272C>T ENST00000329492.3 + 2 237 c.120C>T c.(118-120)atC>atT p.I40I MAPK8IP2_ENST00000442429.2_Silent_p.I40I|MAPK8IP2_ENST00000399912.1_5'UTR|MAPK8IP2_ENST00000341339.4_Silent_p.I40I NM_012324.3 NP_036456.1 Q13387 JIP2_HUMAN mitogen-activated protein kinase 8 interacting protein 2 40 behavioral fear response|dendrite morphogenesis|MAPKKK cascade|nonassociative learning|positive regulation of anti-apoptosis|regulation of excitatory postsynaptic membrane potential|regulation of JNK cascade|regulation of receptor activity|regulation of synaptic transmission, glutamatergic|signal complex assembly|social behavior cytoplasm|postsynaptic density beta-amyloid binding|kinesin binding|MAP-kinase scaffold activity|protein kinase activator activity|protein kinase binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2) 7 all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) OV - Ovarian serous cystadenocarcinoma(4;1.28e-70)|Epithelial(4;3.46e-65)|GBM - Glioblastoma multiforme(4;4.83e-06)|Lung(4;0.125)|BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247) TGTCTGAGATCACTGATGACT 0.562000 45 82 0 0 1 0 0 ATP8B4 79895 broad.mit.edu 37 15 50271918 50271918 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr15:50271918G>A ENST00000284509.6 - 12 1071 c.930C>T c.(928-930)ctC>ctT p.L310L ATP8B4_ENST00000558959.1_5'UTR|ATP8B4_ENST00000559829.1_Silent_p.L310L NM_024837.2 NP_079113.2 Q8TF62 AT8B4_HUMAN ATPase, class I, type 8B, member 4 310 ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1) 73 all_lung(180;0.00183) all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05) CATTCCAAAAGAGGAAAGTTC 0.363000 8 163 0 0 1 0 0 PA2G4 5036 broad.mit.edu 37 12 56500854 56500854 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:56500854C>T ENST00000303305.6 + 3 717 c.298C>T c.(298-300)Ctc>Ttc p.L100F RP11-603J24.17_ENST00000548595.1_RNA|PA2G4_ENST00000552766.1_Missense_Mutation_p.L100F|RP11-603J24.9_ENST00000548861.1_Missense_Mutation_p.L81F NM_006191.2 NP_006182.2 Q9UQ80 PA2G4_HUMAN proliferation-associated 2G4, 38kDa 100 cell cycle arrest|cell proliferation|negative regulation of transcription, DNA-dependent|regulation of translation|rRNA processing cytoplasm|nucleolus|ribonucleoprotein complex DNA binding|RNA binding|sequence-specific DNA binding transcription factor activity|ubiquitin protein ligase binding NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1) 12 OV - Ovarian serous cystadenocarcinoma(18;0.0739) GGATTATATTCTCAAGGAAGG 0.358000 6 173 0 0 1 0 0 OR9G1 390174 broad.mit.edu 37 11 56468745 56468745 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:56468745G>A ENST00000312153.1 + 1 882 c.882G>A c.(880-882)aaG>aaA p.K294K NM_001005213.1 NP_001005213.1 olfactory receptor, family 9, subfamily G, member 1 breast(2)|kidney(1)|lung(25)|stomach(2)|upper_aerodigestive_tract(1) 31 TAAGGAATAAGGATGTGAAAG 0.373000 38 112 0 0 1 0 0 PPFIA4 8497 broad.mit.edu 37 1 203014972 203014972 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:203014972C>T ENST00000367240.2 + 8 1389 c.862C>T c.(862-864)Ctg>Ttg p.L288L PPFIA4_ENST00000414050.2_5'UTR|PPFIA4_ENST00000295706.4_5'UTR|PPFIA4_ENST00000447715.2_Silent_p.L288L O75335 LIPA4_HUMAN protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 4 199 cell communication cell surface|cytoplasm protein binding NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(20)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 50 CTCCCAGGCTCTGGCCCAGAA 0.562000 35 135 0 0 1 0 0 TRIM72 493829 broad.mit.edu 37 16 31235607 31235607 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr16:31235607G>A ENST00000322122.3 + 7 1249 c.965G>A c.(964-966)gGg>gAg p.G322E NM_001008274.3 NP_001008275.2 Q6ZMU5 TRI72_HUMAN tripartite motif containing 72 322 B30.2/SPRY. exocytosis|muscle organ development|muscle system process|plasma membrane repair|protein homooligomerization cytoplasmic vesicle membrane|sarcolemma phosphatidylserine binding|zinc ion binding breast(1)|endometrium(2)|large_intestine(2)|lung(9)|skin(1) 15 CCGCCGGCCGGGGAGGACCCG 0.701000 11 25 0 0 1 0 0 ZNF229 7772 broad.mit.edu 37 19 44934572 44934572 + Silent SNP T T A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:44934572T>A ENST00000291187.4 - 6 688 c.366A>T c.(364-366)ggA>ggT p.G122G CTC-512J12.4_ENST00000588655.1_RNA|ZNF229_ENST00000591289.1_Intron|ZNF229_ENST00000588931.1_Silent_p.G128G NM_001278510.1 NP_001265439.1 Q9UJW7 ZN229_HUMAN zinc finger protein 229 128 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1) 45 Prostate(69;0.0352) GGAAGTCTTTTCCTTGCAGAT 0.473000 10 127 0 0 1 0 0 SCN5A 6331 broad.mit.edu 37 3 38622601 38622601 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:38622601C>T ENST00000413689.1 - 17 3242 c.3049G>A c.(3049-3051)Gag>Aag p.E1017K SCN5A_ENST00000443581.1_Missense_Mutation_p.E1017K|SCN5A_ENST00000451551.2_Missense_Mutation_p.E1017K|SCN5A_ENST00000414099.2_Missense_Mutation_p.E1017K|SCN5A_ENST00000423572.2_Missense_Mutation_p.E1017K|SCN5A_ENST00000450102.2_Missense_Mutation_p.E1017K|SCN5A_ENST00000449557.2_Missense_Mutation_p.E1017K|SCN5A_ENST00000333535.4_Missense_Mutation_p.E1017K|SCN5A_ENST00000455624.2_Missense_Mutation_p.E1017K|SCN5A_ENST00000425664.1_Missense_Mutation_p.E1017K NM_001099404.1|NM_001160160.1 NP_001092874.1|NP_001153632.1 Q14524 SCN5A_HUMAN sodium channel, voltage-gated, type V, alpha subunit 1017 blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction sarcolemma|voltage-gated sodium channel complex protein binding|voltage-gated sodium channel activity NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4) 107 Medulloblastoma(35;0.163) KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1) Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661) GGCACCTTCTCCGTCTCTGGG 0.697000 15 34 0 0 1 0 0 SUPT5H 6829 broad.mit.edu 37 19 39966959 39966959 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:39966959G>A ENST00000599117.1 + 31 3551 c.3184G>A c.(3184-3186)Gat>Aat p.D1062N SUPT5H_ENST00000432763.2_Missense_Mutation_p.D1062N|SUPT5H_ENST00000598725.1_Missense_Mutation_p.D1062N|SUPT5H_ENST00000402194.2_Missense_Mutation_p.D1058N|SUPT5H_ENST00000359191.6_Missense_Mutation_p.D1058N O00267 SPT5H_HUMAN suppressor of Ty 5 homolog (S. cerevisiae) 1062 cell cycle|chromatin remodeling|mRNA capping|negative regulation of transcription elongation, DNA-dependent|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription elongation from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|response to organic substance|retroviral genome replication|transcription elongation from RNA polymerase II promoter nucleoplasm enzyme binding|protein heterodimerization activity breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(13)|lung(12)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1) 51 all_cancers(60;6.69e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;1.57e-06)|Ovarian(47;0.159) Epithelial(26;3.9e-26)|all cancers(26;1.35e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657) TGATGGTGAGGATGGCATTGT 0.597000 32 83 0 0 1 0 0 ITIH5 80760 broad.mit.edu 37 10 7618458 7618458 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:7618458C>T ENST00000256861.6 - 10 2014 c.1936G>A c.(1936-1938)Gaa>Aaa p.E646K ITIH5_ENST00000397146.2_Missense_Mutation_p.E646K|ITIH5_ENST00000298441.6_Missense_Mutation_p.E432K|ITIH5_ENST00000397145.2_Missense_Mutation_p.E646K|ITIH5_ENST00000446830.2_Missense_Mutation_p.E428K|ITIH5_ENST00000434980.1_5'UTR NM_030569.6 NP_085046.5 Q86UX2 ITIH5_HUMAN inter-alpha-trypsin inhibitor heavy chain family, member 5 646 hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3) 75 ACCACCGGTTCGGGTCCCATG 0.682000 21 27 0 0 1 0 0 OBSCN 84033 broad.mit.edu 37 1 228547453 228547453 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:228547453C>T ENST00000284548.11 + 81 18934 c.18860C>T c.(18859-18861)cCc>cTc p.P6287L OBSCN_ENST00000366707.4_Intron|OBSCN_ENST00000422127.1_Intron|OBSCN_ENST00000570156.2_Intron|OBSCN_ENST00000366709.4_Missense_Mutation_p.P3406L Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 7111 apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) GCTGGCCAGCCCCGCAGGCCG 0.706000 5 18 0 0 1 0 0 DNAH17 8632 broad.mit.edu 37 17 76567425 76567425 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:76567425G>A ENST00000389840.5 - 5 892 c.768C>T c.(766-768)atC>atT p.I256I DNAH17_ENST00000585328.1_Silent_p.I256I dynein, axonemal, heavy chain 17 NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 116 BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656) CTTTCTCTAGGATCTCAACAA 0.502000 6 43 0 0 1 0 0 TIAM2 26230 broad.mit.edu 37 6 155450835 155450835 + Nonsense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:155450835C>T ENST00000461783.3 + 6 1751 c.478C>T c.(478-480)Cga>Tga p.R160* TIAM2_ENST00000367174.2_5'UTR|TIAM2_ENST00000456144.1_Nonsense_Mutation_p.R160*|TIAM2_ENST00000360366.4_Nonsense_Mutation_p.R160*|TIAM2_ENST00000529824.2_Nonsense_Mutation_p.R160*|TIAM2_ENST00000318981.5_Nonsense_Mutation_p.R160* Q8IVF5 TIAM2_HUMAN T-cell lymphoma invasion and metastasis 2 160 apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|filopodium|growth cone|lamellipodium receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4) 65 Ovarian(120;0.196) OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053) CAAGAGCCCCCGAGTGCTCAT 0.582000 22 67 0 0 1 0 0 MAP1A 4130 broad.mit.edu 37 15 43814390 43814390 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr15:43814390C>T ENST00000382031.1 + 5 1464 c.1433C>T c.(1432-1434)tCc>tTc p.S478F MAP1A_ENST00000399453.1_Missense_Mutation_p.S240F|MAP1A_ENST00000300231.5_Missense_Mutation_p.S240F P78559 MAP1A_HUMAN microtubule-associated protein 1A 240 9 X 3 AA repeats of K-K-[DE].|Lys-rich (basic). cytoplasm|microtubule|microtubule associated complex protein binding|structural molecule activity breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 66 all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;3.05e-06) Estramustine(DB01196) GCTGAGATCTCCGTGCCCTAC 0.527000 46 86 0 0 1 0 0 BPIFA2 140683 broad.mit.edu 37 20 31767441 31767441 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr20:31767441C>T ENST00000253362.2 + 7 823 c.677C>T c.(676-678)tCc>tTc p.S226F BPIFA2_ENST00000354932.5_Missense_Mutation_p.S226F Q96DR5 SPLC2_HUMAN BPI fold containing family A, member 2 226 extracellular region lipid binding TTCATCCACTCCCTGGATGTG 0.532000 7 156 0 0 1 0 0 TBC1D3P2 440452 broad.mit.edu 37 17 60345601 60345601 + RNA SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:60345601C>T ENST00000581291.1 - 0 751 breast(2)|kidney(1)|lung(2) 5 CTGTGAAATCCTGAGAAGCCC 0.587000 201 98 0 0 1 0 0 MME 4311 broad.mit.edu 37 3 154858011 154858011 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:154858011C>T ENST00000460393.1 + 10 1007 c.887C>T c.(886-888)cCa>cTa p.P296L MME_ENST00000493237.1_Missense_Mutation_p.P296L|MME_ENST00000492661.1_Missense_Mutation_p.P296L|MME_ENST00000360490.2_Missense_Mutation_p.P296L|MME_ENST00000462745.1_Missense_Mutation_p.P296L NM_000902.3|NM_007287.2 NP_000893.2|NP_009218.2 P08473 NEP_HUMAN membrane metallo-endopeptidase 296 cell-cell signaling|proteolysis integral to plasma membrane metal ion binding|metalloendopeptidase activity|protein binding central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 64 all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122) LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135) Candoxatril(DB00616) CGAAATGATCCAATGCTTCTG 0.313000 25 54 0 0 1 0 0 CDK11A 728642 broad.mit.edu 37 1 1634985 1634985 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:1634985G>A ENST00000356200.3 - 17 2122 c.1888C>T c.(1888-1890)Cac>Tac p.H630Y CDK11A_ENST00000378638.2_Missense_Mutation_p.H630Y|RP1-283E3.8_ENST00000598846.1_RNA|CDK11A_ENST00000358779.5_Missense_Mutation_p.H654Y|CDK11A_ENST00000404249.3_Missense_Mutation_p.H664Y|CDK11A_ENST00000378633.1_Missense_Mutation_p.H667Y|CDK11A_ENST00000357760.2_Missense_Mutation_p.H663Y cyclin-dependent kinase 11A central_nervous_system(1)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(4)|stomach(1)|urinary_tract(1) 18 TTGTAGGGGTGCTCGCTGAAG 0.592000 6 14 0 0 1 0 0 LRFN5 145581 broad.mit.edu 37 14 42356261 42356261 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr14:42356261G>A ENST00000554171.1 + 5 2865 c.433G>A c.(433-435)Gat>Aat p.D145N LRFN5_ENST00000298119.4_Missense_Mutation_p.D145N|LRFN5_ENST00000554120.1_Missense_Mutation_p.D145N Q96NI6 LRFN5_HUMAN leucine rich repeat and fibronectin type III domain containing 5 145 integral to membrane breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2) 120 LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728) GBM - Glioblastoma multiforme(112;0.00847) AGCGTTTGATGATGTCTTCGC 0.383000 HNSCC(30;0.082) 39 76 0 0 1 0 0 SCN11A 11280 broad.mit.edu 37 3 38968394 38968394 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:38968394C>T ENST00000302328.3 - 4 715 c.517G>A c.(517-519)Gaa>Aaa p.E173K SCN11A_ENST00000444237.2_Missense_Mutation_p.E173K|SCN11A_ENST00000456224.3_Missense_Mutation_p.E173K|SCN11A_ENST00000450244.1_Missense_Mutation_p.E173K NM_014139.2 NP_054858.2 Q9UI33 SCNBA_HUMAN sodium channel, voltage-gated, type XI, alpha subunit 173 response to drug voltage-gated sodium channel complex voltage-gated sodium channel activity NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3) 119 Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226) Cocaine(DB00907) ATCAAAGCTTCAAAAATATAA 0.363000 41 87 0 0 1 0 0 CKAP4 10970 broad.mit.edu 37 12 106634089 106634089 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:106634089G>A ENST00000378026.4 - 2 658 c.522C>T c.(520-522)tcC>tcT p.S174S CKAP4_ENST00000552828.1_5'UTR NM_006825.3 NP_006816.2 Q07065 CKAP4_HUMAN cytoskeleton-associated protein 4 174 ER-Golgi intermediate compartment membrane|integral to membrane|membrane fraction NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|pancreas(1)|urinary_tract(1) 20 TTCTCAAGATGGACTCAAAAG 0.458000 12 72 0 0 1 0 0 C1orf127 148345 broad.mit.edu 37 1 11007835 11007835 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:11007835C>T ENST00000377004.4 - 12 2356 c.2357G>A c.(2356-2358)gGg>gAg p.G786E C1orf127_ENST00000377008.4_Missense_Mutation_p.G619E NM_001170754.1 NP_001164225.1 B7ZLG7 B7ZLG7_HUMAN chromosome 1 open reading frame 127 637 NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(5) 32 Ovarian(185;0.249) Lung NSC(185;0.000226)|all_lung(284;0.000302)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731) STAD - Stomach adenocarcinoma(5;0.0224) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.71e-07)|COAD - Colon adenocarcinoma(227;7.79e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000305)|Kidney(185;0.000785)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|READ - Rectum adenocarcinoma(331;0.0509) GAGTGAGGCCCCCCGGCCAGC 0.627000 17 28 0 0 1 0 0 SH3TC1 54436 broad.mit.edu 37 4 8221107 8221107 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:8221107C>T ENST00000539824.1 + 9 1108 c.734C>T c.(733-735)cCc>cTc p.P245L SH3TC1_ENST00000245105.3_Missense_Mutation_p.P321L Q8TE82 S3TC1_HUMAN SH3 domain and tetratricopeptide repeats 1 321 binding NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 33 GGCTCGGGGCCCGAAGAGATG 0.682000 42 143 0 0 1 0 0 DPEP3 64180 broad.mit.edu 37 16 68011667 68011667 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr16:68011667C>T ENST00000268793.4 - 6 1270 c.897G>A c.(895-897)ttG>ttA p.L299L NM_001129758.1|NM_022357.3 NP_001123230.1|NP_071752.3 Q9H4B8 DPEP3_HUMAN dipeptidase 3 274 meiosis anchored to membrane dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity breast(4)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(2) 20 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0117)|Epithelial(162;0.0481)|all cancers(182;0.236) CCCTTCTTATCAAGGTGTCCG 0.478000 15 19 0 0 1 0 0 LMBRD2 92255 broad.mit.edu 37 5 36143317 36143317 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:36143317G>A ENST00000296603.4 - 2 597 c.135C>T c.(133-135)tgC>tgT p.C45C NM_001007527.1 NP_001007528.1 Q68DH5 LMBD2_HUMAN LMBR1 domain containing 2 45 integral to membrane breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 all_lung(31;0.000146) Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) CAATAAGAAAGCAGAGATACC 0.343000 17 69 0 0 1 0 0 NELL1 4745 broad.mit.edu 37 11 20949957 20949957 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:20949957C>T ENST00000298925.5 + 10 1166 c.1013C>T c.(1012-1014)cCc>cTc p.P338L NELL1_ENST00000532434.1_Missense_Mutation_p.P310L|NELL1_ENST00000325319.5_Missense_Mutation_p.P253L|NELL1_ENST00000357134.5_Missense_Mutation_p.P310L Q92832 NELL1_HUMAN NEL-like 1 (chicken) 310 VWFC 2. cell adhesion|nervous system development extracellular region calcium ion binding|structural molecule activity NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1) 70 ATGTCCTGTCCCCCTCTCAAT 0.537000 31 33 0 0 1 0 0 IMPG1 3617 broad.mit.edu 37 6 76744409 76744409 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:76744409C>T ENST00000369963.3 - 2 352 c.163G>A c.(163-165)Gag>Aag p.E55K IMPG1_ENST00000369950.3_Missense_Mutation_p.E133K Q17R60 IMPG1_HUMAN interphotoreceptor matrix proteoglycan 1 133 visual perception proteinaceous extracellular matrix extracellular matrix structural constituent|receptor activity breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222) CAGAAGGTCTCCTGCTGGCAG 0.498000 53 75 0 0 1 0 0 HELZ 9931 broad.mit.edu 37 17 65074542 65074542 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:65074542C>T ENST00000358691.5 - 33 5821 c.5655G>A c.(5653-5655)caG>caA p.Q1885Q HELZ_ENST00000580168.1_Silent_p.Q1886Q NM_014877.3 NP_055692.2 helicase with zinc finger NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13) CCGCAGAGCTCTGGGGGCTAC 0.622000 83 239 0 0 1 0 0 GALNT3 2591 broad.mit.edu 37 2 166605356 166605356 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:166605356G>A ENST00000392701.3 - 11 2612 c.1837C>T c.(1837-1839)Cca>Tca p.P613S GALNT3_ENST00000409882.1_Missense_Mutation_p.P351S NM_004482.3 NP_004473.2 Q14435 GALT3_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 3 (GalNAc-T3) 613 Ricin B-type lectin. protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine Golgi cisterna membrane|integral to membrane|membrane fraction|nucleus|perinuclear region of cytoplasm calcium ion binding|manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding NS(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|skin(1) 20 ACTAAACTTGGATGCTCTCCA 0.328000 25 38 0 0 1 0 0 MGAM 8972 broad.mit.edu 37 7 141765201 141765201 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:141765201C>T ENST00000475668.2 + 38 4605 c.4551C>T c.(4549-4551)ggC>ggT p.G1517G MGAM_ENST00000549489.2_Silent_p.G1517G O43451 MGA_HUMAN maltase-glucoamylase (alpha-glucosidase) 1517 Glucoamylase. polysaccharide digestion|starch catabolic process apical plasma membrane|integral to membrane carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2) 13 Melanoma(164;0.0272) Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878) CCTCTTCTGGCCGCTGGGCAG 0.612000 7 28 0 0 1 0 0 INO80E 283899 broad.mit.edu 37 16 30012753 30012753 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr16:30012753C>T ENST00000563197.1 + 6 1432 c.415C>T c.(415-417)Ccc>Tcc p.P139S INO80E_ENST00000567705.1_Intron|INO80E_ENST00000304516.7_Intron|INO80E_ENST00000567254.1_Missense_Mutation_p.P139S NM_173618.1 NP_775889.1 Q8NBZ0 IN80E_HUMAN INO80 complex subunit E 139 Pro-rich. DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent Ino80 complex endometrium(1)|large_intestine(2)|lung(1)|skin(1)|urinary_tract(1) 6 ctcccgctacccccCATTCCC 0.672000 17 27 0 0 1 0 0 PRIM2 5558 broad.mit.edu 37 6 57246850 57246850 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:57246850G>A ENST00000607273.1 + 7 664 c.577G>A c.(577-579)Gat>Aat p.D193N PRIM2_ENST00000389488.2_3'UTR NM_000947.2 NP_000938.2 P49643 PRI2_HUMAN primase, DNA, polypeptide 2 (58kDa) 193 DNA replication, synthesis of RNA primer|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication alpha DNA polymerase:primase complex|nucleoplasm 4 iron, 4 sulfur cluster binding|DNA binding|DNA primase activity|metal ion binding NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(34)|prostate(6)|stomach(4)|upper_aerodigestive_tract(1) 59 Colorectal(6;0.041)|READ - Rectum adenocarcinoma(7;0.193) TGATGCTCTGGATTTGTTTCG 0.368000 9 67 0 0 1 0 0 TNS1 7145 broad.mit.edu 37 2 218682830 218682830 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:218682830C>T ENST00000171887.4 - 24 4365 c.3913G>A c.(3913-3915)Gga>Aga p.G1305R TNS1_ENST00000419504.1_Missense_Mutation_p.G1292R|TNS1_ENST00000430930.1_Missense_Mutation_p.G1284R NM_022648.4 NP_072174.3 Q9HBL0 TENS1_HUMAN tensin 1 1305 cytoplasm|cytoskeleton|focal adhesion actin binding breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 79 Renal(207;0.0483)|Lung NSC(271;0.213) Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013) CCAGACCCTCCGAGGTGACGG 0.657000 10 28 0 0 1 0 0 MDC1 9656 broad.mit.edu 37 6 30679745 30679745 + Silent SNP G G A rs138559048 TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:30679745G>A ENST00000376406.3 - 5 2621 c.1974C>T c.(1972-1974)tcC>tcT p.S658S MDC1_ENST00000376405.2_Silent_p.S658S|MDC1-AS1_ENST00000442150.1_RNA NM_014641.2 NP_055456.2 Q14676 MDC1_HUMAN mediator of DNA-damage checkpoint 1 658 Missing (in Ref. 2; CAH18685). cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint focal adhesion|nucleoplasm FHA domain binding|protein C-terminus binding breast(2)|kidney(1)|ovary(1) 4 GTGGCTGGGTGGATTCCCCTA 0.572000 Other conserved DNA damage response genes 62 123 0 0 1 0 0 EWSR1 2130 broad.mit.edu 37 22 29696140 29696140 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr22:29696140C>T ENST00000397938.2 + 17 2279 c.1960C>T c.(1960-1962)Cgg>Tgg p.R654W EWSR1_ENST00000332050.6_Missense_Mutation_p.R581W|EWSR1_ENST00000331029.7_Missense_Mutation_p.R616W|EWSR1_ENST00000406548.1_Missense_Mutation_p.R653W|EWSR1_ENST00000414183.2_Missense_Mutation_p.R659W|EWSR1_ENST00000332035.6_Missense_Mutation_p.R598W NM_001163285.1|NM_001163286.1|NM_005243.3|NM_013986.3 NP_001156757.1|NP_001156758.1|NP_005234.1|NP_053733.2 Q01844 EWS_HUMAN EWS RNA-binding protein 1 654 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus|plasma membrane calmodulin binding|nucleotide binding|RNA binding|zinc ion binding EWSR1/ATF1(347)|EWSR1/POU5F1(10)|EWSR1/PBX1(3)|EWSR1/DDIT3(45)|EWSR1/FEV(11)|EWSR1/CREB1(44)|EWSR1/SMARCA5(2)|EWSR1/ETV4(6)|EWSR1/ERG(178)|EWSR1/ZNF384(4)|EWSR1/ETV1(7)|EWSR1/FLI1(2569)|EWSR1/NR4A3(146)|EWSR1/SP3(3)|EWSR1/PATZ1(2)|EWSR1/WT1(234)|EWSR1/NFATC2(9) breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 GCGCAGAGATCGGCCCTACTA 0.483000 T """FLI1, ERG, ZNF278, NR4A3, FEV, ATF1, ETV1, ETV4, WT1, ZNF384, CREB1, POU5F1, PBX1""" """Ewing sarcoma, desmoplastic small round cell tumor , ALL, clear cell sarcoma, sarcoma, myoepithelioma""" 6 179 0 0 1 0 0 COBL 23242 broad.mit.edu 37 7 51258743 51258743 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:51258743C>T ENST00000395542.2 - 4 673 c.489G>A c.(487-489)cgG>cgA p.R163R COBL_ENST00000441453.1_Silent_p.R163R|COBL_ENST00000395540.2_Silent_p.R163R|COBL_ENST00000265136.7_Silent_p.R163R O75128 COBL_HUMAN cordon-bleu WH2 repeat protein 163 NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 65 Glioma(55;0.08) CTTTTTGTGTCCGCAGGTAAT 0.478000 23 22 0 0 1 0 0 RICTOR 253260 broad.mit.edu 37 5 38944555 38944555 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:38944555G>A ENST00000357387.3 - 36 4936 c.4906C>T c.(4906-4908)Ctt>Ttt p.L1636F RICTOR_ENST00000296782.5_Missense_Mutation_p.L1660F NM_152756.3 NP_689969.2 Q6R327 RICTR_HUMAN RPTOR independent companion of MTOR, complex 2 1636 actin cytoskeleton reorganization|embryo development|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|regulation of protein kinase B signaling cascade|T cell costimulation cytosol|TORC2 complex protein binding NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5) 75 all_lung(31;0.000396) CACGTTAAAAGCCCAGTCTCA 0.323000 46 313 0 0 1 0 0 MPV17L 255027 broad.mit.edu 37 16 15494687 15494687 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr16:15494687G>A ENST00000396385.3 + 2 473 c.354G>A c.(352-354)ctG>ctA p.L118L RP11-1021N1.1_ENST00000568222.1_Intron|MPV17L_ENST00000287594.6_Intron NM_001128423.1 NP_001121895.1 Q2QL34 MP17L_HUMAN MPV17 mitochondrial membrane protein-like 118 integral to membrane|peroxisomal membrane kidney(2)|large_intestine(1)|skin(1) 4 TTTTGGACCTGAAACAGAAAT 0.289000 17 28 0 0 1 0 0 WDR86 349136 broad.mit.edu 37 7 151093095 151093095 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:151093095G>A ENST00000334493.6 - 3 923 c.493C>T c.(493-495)Ctt>Ttt p.L165F WDR86_ENST00000477459.1_Missense_Mutation_p.L37F|WDR86_ENST00000469830.2_Missense_Mutation_p.L165F NM_198285.2 NP_938026.2 Q86TI4 WDR86_HUMAN WD repeat domain 86 165 breast(1)|endometrium(2)|kidney(1)|lung(6) 10 OV - Ovarian serous cystadenocarcinoma(82;0.00419) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) GTCACCAGAAGCCCCCCGGCC 0.716000 14 18 0 0 1 0 0 MADD 8567 broad.mit.edu 37 11 47306505 47306505 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:47306505C>T ENST00000342922.4 + 13 2528 c.2171C>T c.(2170-2172)tCt>tTt p.S724F MADD_ENST00000407859.3_Missense_Mutation_p.S724F|MADD_ENST00000406482.1_Missense_Mutation_p.S724F|MADD_ENST00000349238.3_Missense_Mutation_p.S724F|MADD_ENST00000311027.5_Missense_Mutation_p.S724F|MADD_ENST00000402192.2_Missense_Mutation_p.S724F|MADD_ENST00000402799.1_Missense_Mutation_p.S724F|MADD_ENST00000395336.3_Missense_Mutation_p.S724F|MADD_ENST00000395344.3_Missense_Mutation_p.S724F NM_130470.2 NP_569826.2 Q8WXG6 MADD_HUMAN MAP-kinase activating death domain 724 activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle cytoplasm|integral to membrane|plasma membrane death receptor binding|protein kinase activator activity|Rab guanyl-nucleotide exchange factor activity breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2) 84 Lung(87;0.182) CCTGCTGACTCTACGGAGATG 0.547000 6 128 0 0 1 0 0 DMBT1 1755 broad.mit.edu 37 10 124392716 124392716 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:124392716C>T ENST00000338354.3 + 49 6126 c.6020C>T c.(6019-6021)tCc>tTc p.S2007F DMBT1_ENST00000368955.3_Missense_Mutation_p.S1997F|DMBT1_ENST00000344338.3_Missense_Mutation_p.S1997F|DMBT1_ENST00000359586.6_Missense_Mutation_p.S727F|DMBT1_ENST00000368909.3_Missense_Mutation_p.S2007F|DMBT1_ENST00000330163.4_Missense_Mutation_p.S1379F|DMBT1_ENST00000368956.2_Missense_Mutation_p.S1379F Q9UGM3 DMBT1_HUMAN deleted in malignant brain tumors 1 2007 epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3) 72 all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238) GCAGATTATTCCTGCGGAGGC 0.473000 42 80 0 0 1 0 0 APOB 338 broad.mit.edu 37 2 21250925 21250925 + Silent SNP T T C TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:21250925T>C ENST00000233242.1 - 14 1969 c.1842A>G c.(1840-1842)ttA>ttG p.L614L APOB_ENST00000399256.4_Silent_p.L614L NM_000384.2 NP_000375.2 P04114 APOB_HUMAN apolipoprotein B 614 Vitellogenin. cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6) 305 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) CTTCTTTCACTAACTTTTTCA 0.363000 19 226 0 0 1 0 0 TNRC6B 23112 broad.mit.edu 37 22 40717184 40717184 + Nonsense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr22:40717184C>T ENST00000454349.2 + 22 5276 c.5065C>T c.(5065-5067)Cga>Tga p.R1689* TNRC6B_ENST00000402203.1_Nonsense_Mutation_p.R885*|TNRC6B_ENST00000335727.8_Nonsense_Mutation_p.R1579*|TNRC6B_ENST00000301923.9_Nonsense_Mutation_p.R885* NM_001162501.1 NP_001155973.1 Q9UPQ9 TNR6B_HUMAN trinucleotide repeat containing 6B 1689 RRM. gene silencing by RNA|regulation of translation cytoplasmic mRNA processing body nucleotide binding|RNA binding breast(1) 1 TGCCCTGATCCGATACAGCAC 0.522000 19 44 0 0 1 0 0 ITGA6 3655 broad.mit.edu 37 2 173337568 173337568 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:173337568C>T ENST00000375221.2 + 6 1045 c.842C>T c.(841-843)cCc>cTc p.P281L ITGA6_ENST00000409532.1_Missense_Mutation_p.P123L|ITGA6_ENST00000343713.4_Missense_Mutation_p.P237L|ITGA6_ENST00000264106.6_Missense_Mutation_p.P281L|ITGA6_ENST00000409080.1_Intron|ITGA6_ENST00000264107.7_Intron P23229 ITA6_HUMAN integrin, alpha 6 281 blood coagulation|cell adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|positive regulation of apoptosis|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter integrin complex protein binding|receptor activity NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 44 OV - Ovarian serous cystadenocarcinoma(117;0.0979) ACACGGCCTCCCCGGGAGCAG 0.463000 51 111 0 0 1 0 0 OBSCN 84033 broad.mit.edu 37 1 228547434 228547434 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:228547434C>T ENST00000284548.11 + 81 18915 c.18841C>T c.(18841-18843)Ctg>Ttg p.L6281L OBSCN_ENST00000366707.4_Intron|OBSCN_ENST00000422127.1_Intron|OBSCN_ENST00000570156.2_Intron|OBSCN_ENST00000366709.4_Silent_p.L3400L Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 7105 apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) CCTGCTGTACCTGCCAGGTGC 0.706000 5 19 0 0 1 0 0 TRBV9 28586 broad.mit.edu 37 7 142239777 142239777 + RNA SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:142239777C>T ENST00000390363.2 - 0 149 ACTCGCTGTCCAGTTGCTGTG 0.527000 34 54 0 0 1 0 0 CADM2 253559 broad.mit.edu 37 3 86028319 86028319 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:86028319C>T ENST00000407528.2 + 8 1011 c.949C>T c.(949-951)Ccc>Tcc p.P317S CADM2_ENST00000383699.3_Intron|CADM2_ENST00000405615.2_Missense_Mutation_p.P319S NM_001167674.1 NP_001161146.1 Q8N3J6 CADM2_HUMAN cell adhesion molecule 2 317 adherens junction organization|cell junction assembly integral to membrane|plasma membrane p.P319S(2) endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(1)|prostate(1)|skin(4) 38 Lung NSC(201;0.0148) LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157) ACCAGATGTTCCCAACACTTT 0.373000 77 213 0 0 1 0 0 KANSL1L 151050 broad.mit.edu 37 2 211018499 211018499 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:211018499G>A ENST00000281772.9 - 2 1071 c.808C>T c.(808-810)Ccc>Tcc p.P270S KANSL1L_ENST00000418791.1_Missense_Mutation_p.P270S|KANSL1L_ENST00000457374.1_Missense_Mutation_p.P270S|KANSL1L_ENST00000452086.1_Missense_Mutation_p.P270S NM_152519.2 NP_689732.2 A0AUZ9 CB067_HUMAN KAT8 regulatory NSL complex subunit 1-like 270 TTCATTTTGGGGAGTTGATGT 0.388000 61 116 0 0 1 0 0 SLC15A2 6565 broad.mit.edu 37 3 121647961 121647961 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:121647961C>T ENST00000489711.1 + 16 1862 c.1474C>T c.(1474-1476)Cgt>Tgt p.R492C SLC15A2_ENST00000465060.1_3'UTR|SLC15A2_ENST00000295605.2_Missense_Mutation_p.R461C NM_021082.3 NP_066568.3 Q16348 S15A2_HUMAN solute carrier family 15 (oligopeptide transporter), member 2 492 protein transport integral to plasma membrane peptide:hydrogen symporter activity|protein binding NS(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(17)|skin(6)|upper_aerodigestive_tract(2) 36 GBM - Glioblastoma multiforme(114;0.0967) Cefadroxil(DB01140) TCTTGTCATTCGTGAAGATGG 0.398000 108 218 0 0 1 0 0 FLT4 2324 broad.mit.edu 37 5 180047255 180047255 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:180047255C>T ENST00000261937.6 - 17 2538 c.2460G>A c.(2458-2460)ggG>ggA p.G820G FLT4_ENST00000393347.3_Silent_p.G820G|FLT4_ENST00000502649.1_Silent_p.G820G NM_182925.4 NP_891555.2 P35916 VGFR3_HUMAN fms-related tyrosine kinase 4 820 positive regulation of cell proliferation integral to plasma membrane ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114) all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.134) Sorafenib(DB00398)|Sunitinib(DB01268) GAGGCACCTCCCCGGGGTCCA 0.652000 45 142 0 0 1 0 0 EP300 2033 broad.mit.edu 37 22 41546183 41546183 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr22:41546183C>T ENST00000263253.7 + 14 4017 c.2798C>T c.(2797-2799)cCt>cTt p.P933L NM_001429.3 NP_001420.2 Q09472 EP300_HUMAN E1A binding protein p300 933 apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia centrosome|histone acetyltransferase complex androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16) 171 CCGCTGCTTCCTCCGCAGCCT 0.512000 """T, N, F, Mis, O""" """MLL, RUNXBP2""" """colorectal, breast, pancreatic, AML, ALL, DLBCL""" Rubinstein-Taybi syndrome 9 23 0 0 1 0 0 ZNF267 10308 broad.mit.edu 37 16 31927041 31927041 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr16:31927041C>T ENST00000300870.10 + 4 1680 c.1471C>T c.(1471-1473)Cct>Tct p.P491S RP11-170L3.8_ENST00000575471.1_RNA NM_001265588.1|NM_003414.5 NP_001252517.1|NP_003405.3 Q14586 ZN267_HUMAN zinc finger protein 267 491 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(3)|endometrium(5)|kidney(1)|large_intestine(14)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2) 41 TGGAGAGAAGCCTTATAAATG 0.338000 28 71 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9091796 9091796 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:9091796G>A ENST00000397910.4 - 1 222 c.19C>T c.(19-21)Ctt>Ttt p.L7F NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 7 cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 GACCCAGGAAGGCCTGAGGGT 0.552000 10 46 0 0 1 0 0 NCK1 4690 broad.mit.edu 37 3 136664796 136664796 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:136664796C>T ENST00000469404.1 + 2 497 c.406C>T c.(406-408)Cca>Tca p.P136S NCK1_ENST00000288986.2_Missense_Mutation_p.P200S|NCK1_ENST00000481752.1_Missense_Mutation_p.P200S NM_001190796.1 NP_001177725.1 P16333 NCK1_HUMAN NCK adaptor protein 1 200 SH3 2. axon guidance|positive regulation of actin filament polymerization|positive regulation of T cell proliferation|regulation of translation|signal complex assembly|T cell activation|T cell receptor signaling pathway cytosol|endoplasmic reticulum|nucleus cytoskeletal adaptor activity|receptor binding|receptor signaling complex scaffold activity cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 13 GGCTCTTTACCCATTCAGCTC 0.418000 6 182 0 0 1 0 0 UBN2 254048 broad.mit.edu 37 7 138946060 138946060 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:138946060C>T ENST00000288561.8 + 6 968 c.719C>T c.(718-720)tCt>tTt p.S240F UBN2_ENST00000473989.2_Missense_Mutation_p.S323F NM_173569.3 NP_775840.3 Q6ZU65 UBN2_HUMAN ubinuclein 2 323 NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 42 GATTCTCTTTCTCTAGCTGCC 0.383000 29 77 0 0 1 0 0 C5orf42 65250 broad.mit.edu 37 5 37164380 37164380 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:37164380G>A ENST00000274258.7 - 37 7810 c.4223C>T c.(4222-4224)cCt>cTt p.P1408L C5orf42_ENST00000508244.1_Missense_Mutation_p.P2528L|C5orf42_ENST00000425232.2_Missense_Mutation_p.P2528L E9PH94 E9PH94_HUMAN chromosome 5 open reading frame 42 2528 breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 79 all_lung(31;0.000616) COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202) CATACCAAAAGGAACGTCGAA 0.323000 19 116 0 0 1 0 0 TRMT10C 54931 broad.mit.edu 37 3 101283793 101283793 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:101283793C>T ENST00000309922.6 + 2 322 c.168C>T c.(166-168)ccC>ccT p.P56P NM_017819.2 NP_060289.2 tRNA methyltransferase 10 homolog C (S. cerevisiae) AGAGTACACCCCCTTCTGAAG 0.368000 33 148 0 0 1 0 0 SYCP2 10388 broad.mit.edu 37 20 58448959 58448959 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr20:58448959G>A ENST00000357552.3 - 35 3732 c.3507C>T c.(3505-3507)ttC>ttT p.F1169F SYCP2_ENST00000371001.2_Silent_p.F1169F Q9BX26 SYCP2_HUMAN synaptonemal complex protein 2 1169 cell division|meiotic prophase I|synaptonemal complex assembly DNA binding NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 53 all_lung(29;0.00344) BRCA - Breast invasive adenocarcinoma(7;1.19e-09) TTGCACACAGGAAGTTTTTCT 0.338000 35 59 0 0 1 0 0 NLGN4X 57502 broad.mit.edu 37 X 6069332 6069332 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chrX:6069332C>T ENST00000381095.3 - 2 803 c.176G>A c.(175-177)aGa>aAa p.R59K NLGN4X_ENST00000538097.1_Missense_Mutation_p.R59K|NLGN4X_ENST00000381093.2_Missense_Mutation_p.R59K|NLGN4X_ENST00000469740.1_5'UTR|NLGN4X_ENST00000275857.6_Missense_Mutation_p.R59K|NLGN4X_ENST00000381092.1_Missense_Mutation_p.R59K NM_181332.1 NP_851849.1 Q8N0W4 NLGNX_HUMAN neuroligin 4, X-linked 59 brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior cell surface|dendrite|integral to plasma membrane|synapse chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1) 81 TAACGGTGTTCTTAGGCCCCG 0.527000 102 22 0 0 1 0 0 FANCD2 2177 broad.mit.edu 37 3 10089620 10089620 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:10089620C>T ENST00000287647.3 + 16 1391 c.1298C>T c.(1297-1299)tCa>tTa p.S433L FANCD2_ENST00000383807.1_Missense_Mutation_p.S433L|FANCD2_ENST00000383806.1_Missense_Mutation_p.S433L|FANCD2_ENST00000419585.1_Missense_Mutation_p.S433L NM_033084.3 NP_149075.2 Q9BXW9 FACD2_HUMAN Fanconi anemia, complementation group D2 433 DNA repair|response to gamma radiation nucleoplasm protein binding p.S433L(2) NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 51 OV - Ovarian serous cystadenocarcinoma(96;0.148) GATATGTGTTCATCCATTCTG 0.393000 """D, Mis, N, F""" """AML, leukemia""" Involved in tolerance or repair of DNA crosslinks Fanconi Anemia 40 209 0 0 1 0 0 SPTB 6710 broad.mit.edu 37 14 65253629 65253629 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr14:65253629G>A ENST00000389722.3 - 15 3107 c.3054C>T c.(3052-3054)tcC>tcT p.S1018S SPTB_ENST00000556626.1_Silent_p.S1018S|SPTB_ENST00000389720.3_Silent_p.S1018S|SPTB_ENST00000389721.5_Silent_p.S1018S|SPTB_ENST00000542895.1_Silent_p.S1018S NM_001024858.2 NP_001020029.1 P11277 SPTB1_HUMAN spectrin, beta, erythrocytic 1018 actin filament capping|axon guidance cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton actin filament binding|structural constituent of cytoskeleton breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3) 106 all_lung(585;4.15e-09) all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628) TCAGCTGCTGGGACTCACGCT 0.622000 4 152 0 0 1 0 0 FAM209A 200232 broad.mit.edu 37 20 55100930 55100930 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr20:55100930C>T ENST00000371328.3 + 2 643 c.320C>T c.(319-321)cCc>cTc p.P107L FAM209A_ENST00000481560.1_3'UTR|GCNT7_ENST00000243913.4_5'UTR NM_001012971.3 NP_001012989.2 family with sequence similarity 209, member A AATGCTTCCCCCAACAAAGAC 0.453000 56 97 0 0 1 0 0 PCDHGA4 56111 broad.mit.edu 37 5 140737153 140737153 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:140737153G>A ENST00000571252.1 + 1 2386 c.2386G>A c.(2386-2388)Gat>Aat p.D796N PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron NM_018917.2 NP_061740.1 endometrium(1)|kidney(1)|lung(3) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GATAACTCAGGATTTACTTGA 0.438000 21 57 0 0 1 0 0 MYH13 8735 broad.mit.edu 37 17 10204986 10204986 + Missense_Mutation SNP C C G TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:10204986C>G ENST00000418404.3 - 39 5865 c.5702G>C c.(5701-5703)cGg>cCg p.R1901P MYH13_ENST00000252172.4_Missense_Mutation_p.R1901P|MYH13_ENST00000570743.1_Missense_Mutation_p.R1901P Q9UKX3 MYH13_HUMAN myosin, heavy chain 13, skeletal muscle 1901 muscle contraction muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|microfilament motor activity p.R1901L(2) breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2) 108 CTGGACTCTCCGGCATCTGGA 0.627000 35 95 0 0 1 0 0 NKX2-1 7080 broad.mit.edu 37 14 36988466 36988466 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr14:36988466C>T ENST00000518149.1 - 2 702 c.97G>A c.(97-99)Ggc>Agc p.G33S RP11-896J10.3_ENST00000521945.1_RNA|NKX2-1_ENST00000354822.5_Missense_Mutation_p.G63S|NKX2-1_ENST00000522719.2_Missense_Mutation_p.G33S|NKX2-1_ENST00000498187.2_Missense_Mutation_p.G33S P43699 NKX21_HUMAN NK2 homeobox 1 33 epithelial tube branching involved in lung morphogenesis|globus pallidus development|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|thyroid gland development protein binding|transcription regulatory region DNA binding large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(2) 7 all_cancers(3;4.47e-51)|Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)|Breast(36;0.165) Lung(8;1.8e-08)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.014)|all cancers(34;0.0366)|LUSC - Lung squamous cell carcinoma(13;0.132) GBM - Glioblastoma multiforme(112;0.0171) GCCCCGAGGCCGCCGCCCTCC 0.657000 A NSCLC 9 26 0 0 1 0 0 IFNGR1 3459 broad.mit.edu 37 6 137519694 137519694 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:137519694G>A ENST00000367739.4 - 7 1065 c.944C>T c.(943-945)tCc>tTc p.S315F IFNGR1_ENST00000543628.1_Missense_Mutation_p.S287F NM_000416.2 NP_000407.1 P15260 INGR1_HUMAN interferon gamma receptor 1 315 regulation of interferon-gamma-mediated signaling pathway|response to virus integral to plasma membrane interferon-gamma receptor activity central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1) 18 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.000829)|OV - Ovarian serous cystadenocarcinoma(155;0.00389) Interferon gamma-1b(DB00033) CTTTTCTAAGGAAAATGGCTG 0.423000 27 52 0 0 1 0 0 BPI 671 broad.mit.edu 37 20 36948603 36948603 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr20:36948603C>T ENST00000262865.4 + 7 784 c.695C>T c.(694-696)tCt>tTt p.S232F CTD-2308N23.2_ENST00000437016.1_RNA|BPI_ENST00000489102.1_3'UTR NM_001725.2 NP_001716.2 P17213 BPI_HUMAN bactericidal/permeability-increasing protein 232 defense response to bacterium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of macrophage activation|negative regulation of tumor necrosis factor production extracellular region|integral to plasma membrane lipid binding|lipopolysaccharide binding kidney(1)|large_intestine(6)|lung(15)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1) 30 Myeloproliferative disorder(115;0.00878) AAAATAGATTCTGTGGCTGGA 0.498000 5 93 0 0 1 0 0 SCN9A 6335 broad.mit.edu 37 2 167141191 167141191 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:167141191C>T ENST00000303354.6 - 12 2089 c.1749G>A c.(1747-1749)gaG>gaA p.E583E AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000409672.1_Silent_p.E582E|SCN9A_ENST00000409435.1_Silent_p.E582E|SCN9A_ENST00000375387.4_Silent_p.E583E Q15858 SCN9A_HUMAN sodium channel, voltage-gated, type IX, alpha subunit 582 voltage-gated sodium channel complex voltage-gated sodium channel activity p.E582D(1) NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 108 Lamotrigine(DB00555)|Lidocaine(DB00281) CCCTTCTGCTCTCATTGTCTC 0.512000 11 114 0 0 1 0 0 ATF5 22809 broad.mit.edu 37 19 50435924 50435924 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:50435924C>T ENST00000423777.2 + 3 801 c.424C>T c.(424-426)Ccc>Tcc p.P142S CTC-326K19.6_ENST00000451973.1_Intron|ATF5_ENST00000595125.1_Missense_Mutation_p.P142S NM_001193646.1 NP_001180575.1 Q9Y2D1 ATF5_HUMAN activating transcription factor 5 142 Interaction with PTP4A1 (By similarity). regulation of transcription from RNA polymerase II promoter cytoplasm protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity NS(1)|endometrium(2)|large_intestine(1)|skin(3) 7 all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17) GBM - Glioblastoma multiforme(134;0.00221)|OV - Ovarian serous cystadenocarcinoma(262;0.017) CCCCTCCCTCCCCCTGTCCCT 0.652000 5 4 0 0 1 0 0 NUP210 23225 broad.mit.edu 37 3 13370322 13370322 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:13370322G>A ENST00000254508.5 - 31 4317 c.4235C>T c.(4234-4236)tCt>tTt p.S1412F NM_024923.2 NP_079199.2 Q8TEM1 PO210_HUMAN nucleoporin 210kDa 1412 carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction endoplasmic reticulum membrane|nuclear membrane|nuclear pore NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2) 66 all_neural(104;0.187) GACATCTCCAGAGTTGTCGTG 0.542000 31 83 0 0 1 0 0 BTNL2 56244 broad.mit.edu 37 6 32363831 32363831 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:32363831C>T ENST00000454136.3 - 5 1067 c.1063G>A c.(1063-1065)Gat>Aat p.D355N BTNL2_ENST00000374993.1_Missense_Mutation_p.D355N|BTNL2_ENST00000414363.1_Missense_Mutation_p.D145N|BTNL2_ENST00000540315.1_Missense_Mutation_p.D145N|BTNL2_ENST00000374995.3_Missense_Mutation_p.D261N|BTNL2_ENST00000544175.1_Missense_Mutation_p.D78N|BTNL2_ENST00000429232.2_Missense_Mutation_p.D262N Q9UIR0 BTNL2_HUMAN butyrophilin-like 2 (MHC class II associated) 355 Ig-like V-type 3. integral to membrane central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)|urinary_tract(1) 19 ACCTTCAGATCCAAACTGGCC 0.453000 39 84 0 0 1 0 0 SCN11A 11280 broad.mit.edu 37 3 38889207 38889207 + Nonsense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:38889207G>A ENST00000302328.3 - 26 4552 c.4354C>T c.(4354-4356)Cag>Tag p.Q1452* SCN11A_ENST00000456224.3_Nonsense_Mutation_p.Q1414*|SCN11A_ENST00000450244.1_Nonsense_Mutation_p.Q1452* NM_014139.2 NP_054858.2 Q9UI33 SCNBA_HUMAN sodium channel, voltage-gated, type XI, alpha subunit 1452 response to drug voltage-gated sodium channel complex voltage-gated sodium channel activity NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3) 119 Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226) Cocaine(DB00907) ATGTGCTCCTGATTTTCCAAG 0.507000 13 40 0 0 1 0 0 PCDH15 65217 broad.mit.edu 37 10 56128953 56128953 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:56128953C>T ENST00000373965.2 - 5 795 c.401G>A c.(400-402)cGa>cAa p.R134Q PCDH15_ENST00000395446.1_Missense_Mutation_p.R134Q|PCDH15_ENST00000437009.1_Missense_Mutation_p.R134Q|PCDH15_ENST00000395445.1_Missense_Mutation_p.R134Q|PCDH15_ENST00000395433.1_Missense_Mutation_p.R112Q|PCDH15_ENST00000373957.3_Missense_Mutation_p.R112Q|PCDH15_ENST00000395430.1_Missense_Mutation_p.R134Q|PCDH15_ENST00000395442.1_Missense_Mutation_p.R134Q|PCDH15_ENST00000395432.2_Missense_Mutation_p.R134Q|PCDH15_ENST00000395438.1_Missense_Mutation_p.R134Q|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000395440.1_Missense_Mutation_p.R134Q|PCDH15_ENST00000373955.1_Missense_Mutation_p.R134Q|PCDH15_ENST00000361849.3_Missense_Mutation_p.R134Q|PCDH15_ENST00000414778.1_Missense_Mutation_p.R139Q|PCDH15_ENST00000320301.6_Missense_Mutation_p.R134Q NM_001142771.1|NM_001142772.1 NP_001136243.1|NP_001136244.1 Q96QU1 PCD15_HUMAN protocadherin-related 15 134 Cadherin 1. R -> G (in DFNB23). equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding p.R134Q(2)|p.R139Q(2) NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1) 237 Melanoma(3;0.117)|Lung SC(717;0.238) CACCACTATTCGCACTTCATG 0.438000 HNSCC(58;0.16) 21 51 0 0 1 0 0 ANKRD30B 374860 broad.mit.edu 37 18 14763877 14763877 + Missense_Mutation SNP A A T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr18:14763877A>T ENST00000358984.4 + 7 1193 c.1013A>T c.(1012-1014)aAa>aTa p.K338I ANKRD30B_ENST00000579292.1_Intron|ANKRD30B_ENST00000447268.2_Missense_Mutation_p.K338I NM_001145029.1 NP_001138501.1 Q9BXX2 AN30B_HUMAN ankyrin repeat domain 30B 338 breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1) 22 ACACCTAGGAAAATTTTGAGG 0.418000 8 23 0 0 1 0 0 GLE1 2733 broad.mit.edu 37 9 131296136 131296136 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:131296136G>A ENST00000309971.4 + 11 1658 c.1552G>A c.(1552-1554)Gac>Aac p.D518N GLE1_ENST00000372770.4_Missense_Mutation_p.D518N|RP11-216B9.6_ENST00000434999.1_RNA|GLE1_ENST00000539582.1_Missense_Mutation_p.D264N NM_001003722.1 NP_001003722.1 Q53GS7 GLE1_HUMAN GLE1 RNA export mediator 518 poly(A)+ mRNA export from nucleus|protein transport|transmembrane transport cytoplasm|nuclear pore protein binding breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|skin(2)|upper_aerodigestive_tract(1) 16 CAGAGTGGGGGACCTCATTCT 0.507000 69 123 0 0 1 0 0 TMEM105 284186 broad.mit.edu 37 17 79287701 79287701 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:79287701G>A ENST00000332900.1 - 3 689 c.140C>T c.(139-141)aCc>aTc p.T47I NM_178520.3 NP_848615.1 Q8N8V8 TM105_HUMAN transmembrane protein 105 47 integral to membrane NS(1)|large_intestine(3)|lung(1)|ovary(2) 7 all_neural(118;0.0804)|Melanoma(429;0.242) BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.0892) CTGCAGCAGGGTGGGGGGCCG 0.592000 56 163 0 0 1 0 0 FAM217A 222826 broad.mit.edu 37 6 4077643 4077643 + Silent SNP C C A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:4077643C>A ENST00000274673.3 - 2 409 c.6G>T c.(4-6)ggG>ggT p.G2G FAM217A_ENST00000380188.2_Intron NM_173563.2 NP_775834.2 Q8IXS0 CF146_HUMAN family with sequence similarity 217, member A 2 CATTTCTTCTCCCCATTTTGT 0.448000 28 199 3.03874e-20 3.06976e-20 1 1 0 PRB4 5545 broad.mit.edu 37 12 11461816 11461816 + Splice_Site SNP C C T rs141041844 TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:11461816C>T ENST00000279575.1 - 3 134 c.100_splice c.e3-1 p.G34_splice PRB4_ENST00000535904.1_Splice_Site_p.G34_splice|PRB4_ENST00000445719.2_Splice_Site_p.G34_splice NM_001261399.1|NM_002723.4 NP_001248328.1|NP_002714.2 P10163 PRB4_HUMAN proline-rich protein BstNI subfamily 4 34 LISGKPEGR -> IIPPKPPG (in Ref. 5; AA sequence). extracellular region breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|skin(4)|upper_aerodigestive_tract(3) 30 TTCTGGCTTTCCTGGAGGAGG 0.527000 HNSCC(22;0.051) 22 386 0 0 1 0 0 BNC1 646 broad.mit.edu 37 15 83932427 83932427 + Missense_Mutation SNP C C T rs149687703 TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr15:83932427C>T ENST00000345382.2 - 4 1661 c.1576G>A c.(1576-1578)Gaa>Aaa p.E526K RP11-382A20.4_ENST00000565495.1_RNA|BNC1_ENST00000569704.1_Missense_Mutation_p.E519K NM_001717.3 NP_001708.3 Q01954 BNC1_HUMAN basonuclin 1 526 epidermis development|positive regulation of cell proliferation cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1) 56 AATGGCATTTCGTTTGAAATG 0.488000 44 96 0 0 1 0 0 STARD8 9754 broad.mit.edu 37 X 67937299 67937299 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chrX:67937299G>A ENST00000252336.6 + 5 675 c.303G>A c.(301-303)tcG>tcA p.S101S STARD8_ENST00000374599.3_Silent_p.S181S|STARD8_ENST00000374597.3_Silent_p.S101S NM_014725.4 NP_055540.2 Q92502 STAR8_HUMAN StAR-related lipid transfer (START) domain containing 8 101 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|focal adhesion GTPase activator activity NS(2)|breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2) 50 CCCCCAGCTCGAGTGACCGGC 0.642000 21 16 0 0 1 0 0 HS3ST4 9951 broad.mit.edu 37 16 25704442 25704442 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr16:25704442G>A ENST00000331351.5 + 1 1096 c.704G>A c.(703-705)aGg>aAg p.R235K NM_006040.2 NP_006031.2 Q9Y661 HS3S4_HUMAN heparan sulfate (glucosamine) 3-O-sulfotransferase 4 235 Substrate binding (By similarity). heparan sulfate proteoglycan metabolic process extracellular region|Golgi membrane|integral to membrane [heparan sulfate]-glucosamine 3-sulfotransferase 1 activity breast(2)|endometrium(3)|large_intestine(1)|lung(9) 15 GBM - Glioblastoma multiforme(48;0.0988) TTCTTCGACAGGAACTACGAA 0.677000 12 26 0 0 1 0 0 OSMR 9180 broad.mit.edu 37 5 38884169 38884169 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:38884169G>A ENST00000274276.3 + 5 1061 c.659G>A c.(658-660)gGa>gAa p.G220E OSMR_ENST00000502536.1_Missense_Mutation_p.G220E NM_003999.2 NP_003990.1 Q99650 OSMR_HUMAN oncostatin M receptor 220 cell proliferation|positive regulation of cell proliferation oncostatin-M receptor complex growth factor binding|oncostatin-M receptor activity NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 46 all_lung(31;0.000365) GCAAGTCAAGGAAATGTCAGT 0.388000 101 529 0 0 1 0 0 ANK3 288 broad.mit.edu 37 10 61828668 61828668 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:61828668C>T ENST00000280772.1 - 37 12162 c.11971G>A c.(11971-11973)Gaa>Aaa p.E3991K ANK3_ENST00000355288.2_Intron|ANK3_ENST00000503366.1_Intron|ANK3_ENST00000373827.2_Intron NM_020987.3 NP_066267.2 Q12955 ANK3_HUMAN ankyrin 3, node of Ranvier (ankyrin G) 3991 establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 196 TTACATACTTCCTTGAGCTGA 0.463000 7 188 0 0 1 0 0 UNC79 57578 broad.mit.edu 37 14 94089013 94089013 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr14:94089013G>A ENST00000553484.1 + 31 5654 c.5500G>A c.(5500-5502)Gaa>Aaa p.E1834K UNC79_ENST00000393151.2_Missense_Mutation_p.E1812K|UNC79_ENST00000555664.1_Missense_Mutation_p.E1812K|UNC79_ENST00000256339.4_Missense_Mutation_p.E1635K Q9P2D8 UNC79_HUMAN unc-79 homolog (C. elegans) 1812 integral to membrane breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4) 118 ATCTGATACAGAACAGAATCC 0.483000 23 59 0 0 1 0 0 FBXO42 54455 broad.mit.edu 37 1 16577512 16577512 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:16577512G>A ENST00000375592.3 - 10 2023 c.1807C>T c.(1807-1809)Cgc>Tgc p.R603C NM_018994.1 NP_061867.1 Q6P3S6 FBX42_HUMAN F-box protein 42 603 autonomic_ganglia(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 26 Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00475)|all_lung(284;0.00671)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646) UCEC - Uterine corpus endometrioid carcinoma (279;0.0193)|Colorectal(212;3.16e-07)|COAD - Colon adenocarcinoma(227;1.46e-05)|BRCA - Breast invasive adenocarcinoma(304;4.37e-05)|Kidney(64;0.000246)|KIRC - Kidney renal clear cell carcinoma(64;0.00336)|STAD - Stomach adenocarcinoma(313;0.0139)|READ - Rectum adenocarcinoma(331;0.0693) GGCCCTGGGCGAGGGATGGGC 0.602000 46 85 0 0 1 0 0 TAF8 129685 broad.mit.edu 37 6 42034102 42034102 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:42034102C>T ENST00000372977.3 + 6 560 c.542C>T c.(541-543)tCc>tTc p.S181F TAF8_ENST00000372982.4_Missense_Mutation_p.S181F|TAF8_ENST00000456846.2_Missense_Mutation_p.S181F|TAF8_ENST00000494547.1_Missense_Mutation_p.S181F|TAF8_ENST00000465926.1_Missense_Mutation_p.S118F NM_138572.2 NP_612639.2 Q7Z7C8 TAF8_HUMAN TAF8 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 43kDa 181 cell differentiation|maintenance of protein location in nucleus|positive regulation of transcription, DNA-dependent|regulation of fat cell differentiation|transcription, DNA-dependent perinuclear region of cytoplasm|transcription factor TFIID complex DNA binding|protein binding endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1) 6 Colorectal(47;0.196) STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|Epithelial(12;0.00179) AAGGCTGCATCCCAGAGGCGC 0.552000 36 58 0 0 1 0 0 FOXA2 3170 broad.mit.edu 37 20 22563485 22563485 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr20:22563485G>A ENST00000419308.2 - 2 579 c.377C>T c.(376-378)cCc>cTc p.P126L FOXA2_ENST00000319993.4_Missense_Mutation_p.P132L|FOXA2_ENST00000377115.4_Missense_Mutation_p.P126L NM_021784.4 NP_068556.2 Q9Y261 FOXA2_HUMAN forkhead box A2 126 cell differentiation in hindbrain|central nervous system myelin formation|chromatin modification|dorsal/ventral neural tube patterning|ectoderm formation|endocrine pancreas development|endoderm development|epithelial tube branching involved in lung morphogenesis|in utero embryonic development|lung epithelial cell differentiation|negative regulation of neuron differentiation|neuron fate specification|oligodendrocyte cell fate commitment|positive regulation of embryonic development|positive regulation of gastrulation|positive regulation of neuron differentiation|primitive streak formation|regulation of blood coagulation|regulation of sequence-specific DNA binding transcription factor activity|response to interleukin-6 cytoplasm|transcription factor complex DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding breast(1)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(1)|lung(3)|ovary(2)|prostate(2)|urinary_tract(1) 22 Lung NSC(19;0.188) GTTGGCGTAGGGGGCCAGGCC 0.746000 21 46 0 0 1 0 0 IFFO1 25900 broad.mit.edu 37 12 6649747 6649747 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:6649747G>A ENST00000436152.2 - 11 1232 c.673C>T c.(673-675)Cct>Tct p.P225S IFFO1_ENST00000356896.4_Missense_Mutation_p.P532S|IFFO1_ENST00000465801.1_Missense_Mutation_p.P224S|IFFO1_ENST00000396840.2_Missense_Mutation_p.P528S|IFFO1_ENST00000336604.4_Missense_Mutation_p.P531S Q0D2I5 IFFO1_HUMAN intermediate filament family orphan 1 528 intermediate filament central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|upper_aerodigestive_tract(1) 20 GTGAAAGCAGGAGACTTTCTA 0.597000 18 50 0 0 1 0 0 TBC1D26 353149 broad.mit.edu 37 17 15643492 15643492 + Nonsense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:15643492G>A ENST00000579428.1 + 9 820 c.576G>A c.(574-576)tgG>tgA p.W192* AC005324.6_ENST00000434017.1_RNA|AC005324.6_ENST00000433873.1_RNA|TBC1D26_ENST00000437605.2_Intron|ZNF286A_ENST00000413242.2_Intron Q86UD7 TBC26_HUMAN TBC1 domain family, member 26 0 Rab-GAP TBC. intracellular Rab GTPase activator activity endometrium(1)|large_intestine(1)|lung(4)|skin(1) 7 UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)|READ - Rectum adenocarcinoma(1115;0.0222)|BRCA - Breast invasive adenocarcinoma(8;0.078) GATATTCCTGGGACATGTGCC 0.498000 54 101 0 0 1 0 0 PRPS2 5634 broad.mit.edu 37 X 12838884 12838884 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chrX:12838884C>T ENST00000380668.5 + 6 954 c.826C>T c.(826-828)Ccg>Tcg p.P276S PRPS2_ENST00000398491.2_Missense_Mutation_p.P279S NM_001039091.2|NM_002765.4 NP_001034180.1|NP_002756.1 P11908 PRPS2_HUMAN phosphoribosyl pyrophosphate synthetase 2 276 nucleoside metabolic process|ribonucleoside monophosphate biosynthetic process ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|urinary_tract(1) 16 AAACACAATTCCGCAAGAGGA 0.438000 4 124 0 0 1 0 0 TOMM40 10452 broad.mit.edu 37 19 45404286 45404286 + Splice_Site SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:45404286G>A ENST00000592434.1 + 8 861 c.766_splice c.e8-1 p.L256_splice TOMM40_ENST00000252487.5_Splice_Site_p.L256_splice|TOMM40_ENST00000405636.2_Splice_Site_p.L256_splice|TOMM40_ENST00000426677.2_Splice_Site_p.L256_splice O96008 TOM40_HUMAN translocase of outer mitochondrial membrane 40 homolog (yeast) 256 protein targeting to mitochondrion integral to membrane of membrane fraction|integral to mitochondrial outer membrane|mitochondrial outer membrane translocase complex|pore complex porin activity|protein transmembrane transporter activity|voltage-gated anion channel activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|ovary(1) 5 Lung NSC(12;0.0018)|all_lung(12;0.00481) OV - Ovarian serous cystadenocarcinoma(262;0.0033)|Epithelial(262;0.176) CTCTGACAGTGAACAACTGGT 0.602000 9 101 0 0 1 0 0 CYP4A11 1579 broad.mit.edu 37 1 47398456 47398456 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:47398456G>A ENST00000310638.4 - 11 1372 c.1341C>T c.(1339-1341)ttC>ttT p.F447F CYP4A11_ENST00000371904.4_Silent_p.F448F|CYP4A11_ENST00000475477.1_5'UTR|CYP4A11_ENST00000371905.1_Silent_p.F447F NM_000778.3 NP_000769.2 Q02928 CP4AB_HUMAN cytochrome P450, family 4, subfamily A, polypeptide 11 447 long-chain fatty acid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome alkane 1-monooxygenase activity|electron carrier activity|heme binding|oxygen binding endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2) 36 NADH(DB00157) AGAAGGGCAGGAAAGCGTGGC 0.522000 147 358 0 0 1 0 0 KRTAP5-2 440021 broad.mit.edu 37 11 1619031 1619031 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:1619031G>A ENST00000412090.1 - 1 493 c.450C>T c.(448-450)ccC>ccT p.P150P KRTAP5-AS1_ENST00000424148.1_RNA NM_001004325.1 NP_001004325.1 Q701N4 KRA52_HUMAN keratin associated protein 5-2 150 6 X 4 AA repeats of C-C-X-P. keratin filament large_intestine(1)|lung(2)|skin(1) 4 all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082) GGCAGCACACGGGGACACAGC 0.607000 7 207 0 0 1 0 0 BMPER 168667 broad.mit.edu 37 7 34125654 34125654 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:34125654C>T ENST00000297161.2 + 14 2069 c.1695C>T c.(1693-1695)tcC>tcT p.S565S BMPER_ENST00000426693.1_Silent_p.S565S NM_133468.4 NP_597725.1 Q8N8U9 BMPER_HUMAN BMP binding endothelial regulator 565 VWFD. blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation extracellular space breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 48 AGCTCAAATCCTGGGAGTTTC 0.502000 31 60 0 0 1 0 0 FOXN2 3344 broad.mit.edu 37 2 48573786 48573786 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:48573786C>T ENST00000340553.3 + 3 694 c.433C>T c.(433-435)Cat>Tat p.H145Y NM_002158.3 NP_002149.2 P32314 FOXN2_HUMAN forkhead box N2 145 embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|urinary_tract(1) 13 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) Lung(47;0.0272)|LUSC - Lung squamous cell carcinoma(58;0.036) GATTCTGGACCATTTTCCATA 0.393000 93 161 0 0 1 0 0 ZEB1 6935 broad.mit.edu 37 10 31791344 31791344 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:31791344C>T ENST00000446923.2 + 4 731 c.340C>T c.(340-342)Cta>Tta p.L114L ZEB1_ENST00000320985.10_Silent_p.L130L|ZEB1_ENST00000560721.2_Silent_p.L110L|ZEB1_ENST00000361642.5_Silent_p.L131L|ZEB1_ENST00000542815.3_Silent_p.L63L|ZEB1_ENST00000559858.1_3'UTR NM_001128128.2|NM_001174094.1 NP_001121600.1|NP_001167565.1 P37275 ZEB1_HUMAN zinc finger E-box binding homeobox 1 130 cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation cytoplasm E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4) 77 Prostate(175;0.0156) TGAAGAGTTTCTACAACAACA 0.403000 21 70 0 0 1 0 0 TRIM36 55521 broad.mit.edu 37 5 114515721 114515721 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:114515721C>T ENST00000282369.3 - 1 135 c.14G>A c.(13-15)gGg>gAg p.G5E TRIM36_ENST00000514154.1_5'UTR|TRIM36_ENST00000379618.2_Missense_Mutation_p.G5E|TRIM36_ENST00000379617.2_Missense_Mutation_p.G5E NM_018700.3 NP_061170.2 Q9NQ86 TRI36_HUMAN tripartite motif containing 36 5 acrosomal vesicle|cytoskeleton ligase activity|zinc ion binding breast(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 37 all_cancers(142;0.00133)|all_epithelial(76;2.41e-05)|Prostate(80;0.00955)|Ovarian(225;0.0443)|Breast(839;0.195) OV - Ovarian serous cystadenocarcinoma(64;3.62e-08)|Epithelial(69;7.69e-08)|all cancers(49;9.33e-06) ACTCATCTCCCCAGACTCCGA 0.522000 46 97 0 0 1 0 0 SLC4A10 57282 broad.mit.edu 37 2 162730459 162730459 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:162730459C>T ENST00000446997.1 + 8 985 c.892C>T c.(892-894)Cca>Tca p.P298S SLC4A10_ENST00000421911.1_Missense_Mutation_p.P298S|SLC4A10_ENST00000535165.1_Missense_Mutation_p.P298S|SLC4A10_ENST00000375514.5_Intron|SLC4A10_ENST00000415876.2_Intron|SLC4A10_ENST00000272716.5_Intron|SLC4A10_ENST00000493021.1_3'UTR NM_001178015.1 NP_001171486.1 Q6U841 S4A10_HUMAN solute carrier family 4, sodium bicarbonate transporter, member 10 298 bicarbonate transport|chloride transport|sodium ion transport integral to membrane|plasma membrane inorganic anion exchanger activity|symporter activity endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 GCATACTAGTCCATGTGGGAT 0.522000 11 18 0 0 1 0 0 MROH2B 133558 broad.mit.edu 37 5 41051181 41051181 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:41051181C>T ENST00000399564.4 - 13 1692 c.1242G>A c.(1240-1242)gtG>gtA p.V414V MROH2B_ENST00000506092.2_5'UTR NM_173489.4 NP_775760.3 maestro heat-like repeat family member 2B AGTTAGTTTTCACTGGTTTCT 0.438000 8 36 0 0 1 0 0 ADAMTS12 81792 broad.mit.edu 37 5 33576850 33576850 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:33576850G>A ENST00000504830.1 - 19 3616 c.3281C>T c.(3280-3282)tCc>tTc p.S1094F ADAMTS12_ENST00000352040.3_Missense_Mutation_p.S1009F NM_030955.2 NP_112217.2 P58397 ATS12_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 12 1094 Spacer 2. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5) 216 CAAGGATTGGGAAGTGAGGAT 0.512000 HNSCC(64;0.19) 41 68 0 0 1 0 0 ARAP2 116984 broad.mit.edu 37 4 36109261 36109261 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:36109261G>A ENST00000303965.4 - 27 4700 c.4211C>T c.(4210-4212)tCa>tTa p.S1404L NM_015230.3 NP_056045.2 Q8WZ64 ARAP2_HUMAN ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2 1404 Ras-associating. regulation of ARF GTPase activity|small GTPase mediated signal transduction cytosol ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1) 82 TTCAGCTAATGAACTCCACCG 0.413000 56 132 0 0 1 0 0 OR52N1 79473 broad.mit.edu 37 11 5809771 5809771 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:5809771C>T ENST00000317078.1 - 1 275 c.276G>A c.(274-276)aaG>aaA p.K92K TRIM5_ENST00000380027.1_Intron NM_001001913.1 NP_001001913.1 Q8NH53 O52N1_HUMAN olfactory receptor, family 52, subfamily N, member 1 92 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.K92K(1) autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(15)|prostate(2)|skin(3) 31 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195) AATCAATCTCCTTGAGATTAA 0.498000 59 48 0 0 1 0 0 NOBOX 135935 broad.mit.edu 37 7 144101650 144101650 + Splice_Site SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:144101650G>A ENST00000467773.1 - 2 208 c.210_splice c.e2+1 p.S70_splice NOBOX_ENST00000483238.1_Splice_Site_p.S70_splice NM_001080413.3 NP_001073882.3 O60393 NOBOX_HUMAN NOBOX oogenesis homeobox 70 cell differentiation|oogenesis nucleus sequence-specific DNA binding NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1) 26 Melanoma(164;0.14) ccCCCGTACTGATTTGAGGGT 0.557000 15 47 0 0 1 0 0 FLNB 2317 broad.mit.edu 37 3 58107222 58107222 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:58107222C>T ENST00000357272.4 + 20 3283 c.3118C>T c.(3118-3120)Ccc>Tcc p.P1040S FLNB_ENST00000358537.3_Missense_Mutation_p.P1040S|FLNB_ENST00000429972.2_Missense_Mutation_p.P1040S|FLNB_ENST00000419752.2_Missense_Mutation_p.P871S|FLNB_ENST00000348383.5_Missense_Mutation_p.P1040S|FLNB_ENST00000493452.1_Missense_Mutation_p.P871S|FLNB_ENST00000490882.1_Missense_Mutation_p.P1040S|FLNB_ENST00000295956.4_Missense_Mutation_p.P1040S O75369 FLNB_HUMAN filamin B, beta 1040 actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction cell cortex|integral to membrane|nucleus|sarcomere actin binding NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5) 120 BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898) GCCACCAGATCCCAGCAAGGT 0.562000 62 122 0 0 1 0 0 PEPD 5184 broad.mit.edu 37 19 34003505 34003505 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:34003505G>A ENST00000244137.6 - 2 228 c.195C>T c.(193-195)ttC>ttT p.F65F PEPD_ENST00000436370.3_Silent_p.F65F|PEPD_ENST00000397032.4_Silent_p.F65F NM_000285.3 NP_000276.2 P12955 PEPD_HUMAN peptidase D 65 cellular amino acid metabolic process|collagen catabolic process|proteolysis aminopeptidase activity|dipeptidase activity|manganese ion binding|metallocarboxypeptidase activity endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(2) 17 Esophageal squamous(110;0.137) TCACCTGGCGGAAGAGGACCC 0.672000 4 86 0 0 1 0 0 IL2RA 3559 broad.mit.edu 37 10 6063639 6063639 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:6063639G>A ENST00000379959.3 - 4 558 c.385C>T c.(385-387)Cca>Tca p.P129S IL2RA_ENST00000256876.6_Missense_Mutation_p.P129S|IL2RA_ENST00000379954.1_Intron NM_000417.2 NP_000408.1 P01589 IL2RA_HUMAN interleukin 2 receptor, alpha 129 Sushi 2. cell proliferation integral to membrane interleukin-2 receptor activity endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 17 Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004) TCCCATGGTGGAGGTTCCCTG 0.527000 25 56 0 0 1 0 0 STAT4 6775 broad.mit.edu 37 2 191922832 191922832 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:191922832C>T ENST00000392320.2 - 13 1432 c.1118G>A c.(1117-1119)cGa>cAa p.R373Q STAT4_ENST00000358470.4_Missense_Mutation_p.R373Q NM_003151.3 NP_003142.1 Q14765 STAT4_HUMAN signal transducer and activator of transcription 4 373 JAK-STAT cascade cytoplasm|nucleus calcium ion binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity breast(4)|endometrium(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1) 42 OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204) TACAAATCTTCGGTTGCTGGA 0.368000 30 56 0 0 1 0 0 CHEK2P2 646096 broad.mit.edu 37 15 20489466 20489466 + RNA SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr15:20489466C>T ENST00000555186.1 + 0 454 NR_038836.1 AACTTCATTCCTAAAGTCTGG 0.428000 12 114 0 0 1 0 0 PET112 5188 broad.mit.edu 37 4 152626355 152626355 + Nonsense_Mutation SNP G G T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:152626355G>T ENST00000263985.6 - 7 984 c.944C>A c.(943-945)tCa>tAa p.S315* PET112_ENST00000512306.1_Nonsense_Mutation_p.S315*|PET112_ENST00000515812.1_Nonsense_Mutation_p.S274* NM_004564.2 NP_004555.1 O75879 GATB_HUMAN PET112 homolog (yeast) 315 mitochondrion ATP binding|carbon-nitrogen ligase activity, with glutamine as amido-N-donor|translation factor activity, nucleic acid binding breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2) 23 L-Glutamic Acid(DB00142)|L-Glutamine(DB00130) GTGATGAAATGAGCGTGTTTC 0.478000 25 75 2.24059e-21 2.26463e-21 1 1 0 TRIM51 84767 broad.mit.edu 37 11 55653307 55653307 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:55653307G>A ENST00000449290.2 + 2 495 c.403G>A c.(403-405)Gaa>Aaa p.E135K NM_032681.3 NP_116070.2 Q9BSJ1 SPRY5_HUMAN tripartite motif-containing 51 135 intracellular zinc ion binding GGCTGCTGAGGAACGCCGGGT 0.478000 36 68 0 0 1 0 0 SPAG5 10615 broad.mit.edu 37 17 26919636 26919636 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:26919636G>A ENST00000321765.5 - 3 958 c.626C>T c.(625-627)cCc>cTc p.P209L NM_006461.3 NP_006452.3 Q96R06 SPAG5_HUMAN sperm associated antigen 5 209 cell division|mitosis|phosphatidylinositol-mediated signaling|spindle organization condensed chromosome kinetochore|cytoplasm|spindle pole protein binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 43 Lung NSC(42;0.00431) TTCAGAACAGGGATTTGGTGG 0.483000 36 102 0 0 1 0 0 NUDCD3 23386 broad.mit.edu 37 7 44467253 44467253 + Nonsense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:44467253G>A ENST00000355451.6 - 3 838 c.559C>T c.(559-561)Cga>Tga p.R187* NUDCD3_ENST00000460110.1_5'UTR NM_015332.3 NP_056147.2 Q8IVD9 NUDC3_HUMAN NudC domain containing 3 187 CS. endometrium(2)|large_intestine(1)|lung(3)|skin(1) 7 TAGTTCTCTCGGACAGCACCA 0.517000 45 73 0 0 1 0 0 SH3RF1 57630 broad.mit.edu 37 4 170051229 170051229 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:170051229G>A ENST00000284637.9 - 6 1488 c.1147C>T c.(1147-1149)Cca>Tca p.P383S SH3RF1_ENST00000508685.1_5'UTR NM_020870.3 NP_065921.2 Q7Z6J0 SH3R1_HUMAN SH3 domain containing ring finger 1 383 Golgi apparatus|lamellipodium|perinuclear region of cytoplasm ligase activity|zinc ion binding NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 31 Prostate(90;0.00267)|Renal(120;0.0183) GBM - Glioblastoma multiforme(119;0.0287) ACATCTGATGGGAAAGTAAAC 0.458000 15 38 0 0 1 0 0 FGD2 221472 broad.mit.edu 37 6 36979590 36979590 + Nonsense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:36979590C>T ENST00000274963.8 + 4 658 c.487C>T c.(487-489)Cag>Tag p.Q163* NM_173558.3 NP_775829.2 Q7Z6J4 FGD2_HUMAN FYVE, RhoGEF and PH domain containing 2 163 DH. actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction cytoskeleton|cytosol|early endosome membrane|Golgi apparatus|lamellipodium|nucleus|ruffle membrane metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1) 25 GTTCCATTCTCAGTTCTTCCT 0.617000 31 81 0 0 1 0 0 GPR98 84059 broad.mit.edu 37 5 89923290 89923290 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:89923290C>T ENST00000405460.2 + 7 1031 c.935C>T c.(934-936)tCc>tTc p.S312F NM_032119.3 NP_115495.3 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 312 cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6) 269 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) ACTGGGAATTCCACAGCACAT 0.383000 46 65 0 0 1 0 0 LTA4H 4048 broad.mit.edu 37 12 96429169 96429169 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:96429169G>A ENST00000228740.2 - 1 270 c.129C>T c.(127-129)gtC>gtT p.V43V LTA4H_ENST00000413268.2_Intron|LTA4H_ENST00000552789.1_Intron NM_000895.2 NP_000886.1 P09960 LKHA4_HUMAN leukotriene A4 hydrolase 43 hormone biosynthetic process|inflammatory response|leukotriene biosynthetic process|peptide catabolic process|prostanoid metabolic process|proteolysis cytosol|nucleus aminopeptidase activity|epoxide hydrolase activity|leukotriene-A4 hydrolase activity|metallopeptidase activity|protein binding|zinc ion binding haematopoietic_and_lymphoid_tissue(2)|kidney(3)|lung(4)|skin(2)|stomach(1) 12 CCTGAGACTGGACCGTGAGAG 0.687000 9 19 0 0 1 0 0 TOP1 7150 broad.mit.edu 37 20 39742679 39742679 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr20:39742679C>T ENST00000361337.2 + 15 1772 c.1522C>T c.(1522-1524)Cgt>Tgt p.R508C RP1-1J6.2_ENST00000454626.1_RNA NM_003286.2 NP_003277.1 P11387 TOP1_HUMAN topoisomerase (DNA) I 508 DNA topological change|interspecies interaction between organisms|phosphorylation|programmed cell death|response to drug chromosome|nucleolus|nucleoplasm ATP binding|chromatin DNA binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA topoisomerase type I activity|protein binding breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1) 37 Myeloproliferative disorder(115;0.00878) Irinotecan(DB00762)|Lucanthone(DB04967)|Topotecan(DB01030) CTGCTCACTTCGTGTGGAGCA 0.488000 T NUP98 AML* 48 95 0 0 1 0 0 SIGLEC10 89790 broad.mit.edu 37 19 51919959 51919959 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:51919959C>T ENST00000353836.5 - 3 888 c.667G>A c.(667-669)Ggt>Agt p.G223S SIGLEC10_ENST00000432469.2_Intron|SIGLEC10_ENST00000439889.2_Missense_Mutation_p.G165S|SIGLEC10_ENST00000339313.5_Missense_Mutation_p.G223S|SIGLEC10_ENST00000441969.3_Missense_Mutation_p.G165S|SIGLEC10_ENST00000442846.3_Missense_Mutation_p.G165S|SIGLEC10_ENST00000356298.5_Missense_Mutation_p.G223S|SIGLEC10_ENST00000436984.2_Missense_Mutation_p.G175S|SIGLEC10_ENST00000525998.1_Missense_Mutation_p.G223S|CTD-2616J11.2_ENST00000532688.1_RNA NM_001171157.1|NM_001171158.1|NM_001171159.1 NP_001164628.1|NP_001164629.1|NP_001164630.1 Q96LC7 SIG10_HUMAN sialic acid binding Ig-like lectin 10 223 Ig-like C2-type 1. cell adhesion extracellular region|integral to membrane|plasma membrane sugar binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(27)|ovary(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101) GCGCTCACACCCTTTCTGGAG 0.632000 9 47 0 0 1 0 0 HDAC9 9734 broad.mit.edu 37 7 18875185 18875185 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:18875185C>T ENST00000406451.3 + 20 2703 c.2553C>T c.(2551-2553)ttC>ttT p.F851F HDAC9_ENST00000401921.1_Silent_p.F810F|HDAC9_ENST00000432645.2_Silent_p.F851F|HDAC9_ENST00000441542.2_Silent_p.F854F NM_178423.1|NM_178425.2 NP_848510.1|NP_848512.1 Q9UKV0 HDAC9_HUMAN histone deacetylase 9 851 Histone deacetylase. B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 82 all_lung(11;0.187) Valproic Acid(DB00313) GGAACTTTTTCCCTGGCAGTG 0.443000 39 57 0 0 1 0 0 KIAA1549 57670 broad.mit.edu 37 7 138604135 138604135 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:138604135G>A ENST00000440172.1 - 2 285 c.237C>T c.(235-237)ctC>ctT p.L79L KIAA1549_ENST00000422774.1_Silent_p.L79L|KIAA1549_ENST00000242365.4_Silent_p.L29L NM_001164665.1|NM_020910.2 NP_001158137.1|NP_065961.2 Q9HCM3 K1549_HUMAN KIAA1549 79 integral to membrane KIAA1549/BRAF(703) large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2) 7 TCTTCAGCACGAGCTCCATGG 0.527000 O BRAF pilocytic astrocytoma 29 119 0 0 1 0 0 KIAA1210 57481 broad.mit.edu 37 X 118221181 118221181 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chrX:118221181C>T ENST00000402510.2 - 11 4011 c.4012G>A c.(4012-4014)Gat>Aat p.D1338N NM_020721.1 NP_065772.1 Q9ULL0 K1210_HUMAN KIAA1210 1338 breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 64 TTAGACCTATCTGAGGCTTGG 0.473000 18 227 0 0 1 0 0 DNAH3 55567 broad.mit.edu 37 16 21078696 21078696 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr16:21078696C>T ENST00000261383.3 - 24 3425 c.3426G>A c.(3424-3426)atG>atA p.M1142I DNAH3_ENST00000415178.1_Missense_Mutation_p.M1142I NM_017539.1 NP_060009.1 Q8TD57 DYH3_HUMAN dynein, axonemal, heavy chain 3 1142 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6) 202 GBM - Glioblastoma multiforme(48;0.207) GCTTCTCTGCCATCCGTGGCT 0.468000 36 78 0 0 1 0 0 LIPF 8513 broad.mit.edu 37 10 90435351 90435351 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:90435351G>A ENST00000394375.3 + 9 968 c.855G>A c.(853-855)ttG>ttA p.L285L LIPF_ENST00000238983.4_Silent_p.L275L|LIPF_ENST00000355843.2_Silent_p.L242L|LIPF_ENST00000496797.1_3'UTR NM_001198829.1 NP_001185758.1 P07098 LIPG_HUMAN lipase, gastric 275 lipid catabolic process|triglyceride metabolic process extracellular region lipid binding|triglyceride lipase activity NS(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(6) 13 Colorectal(252;0.0161) Colorectal(12;3.91e-05)|COAD - Colon adenocarcinoma(12;5.43e-05) AGAGTCGCTTGGATGTGTATC 0.333000 31 42 0 0 1 0 0 EDARADD 128178 broad.mit.edu 37 1 236590728 236590728 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:236590728G>A ENST00000359362.5 + 4 381 c.167G>A c.(166-168)cGa>cAa p.R56Q EDARADD_ENST00000334232.4_Missense_Mutation_p.R66Q NM_080738.3 NP_542776.1 Q8WWZ3 EDAD_HUMAN EDAR-associated death domain 66 cell differentiation|signal transduction cytoplasm p.R66Q(1) endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|stomach(1) 12 Ovarian(103;0.0634)|Breast(184;0.247) all_cancers(173;0.0232)|Prostate(94;0.174) OV - Ovarian serous cystadenocarcinoma(106;0.00117) AACTGCCCACGAAATTCAGAT 0.289000 7 97 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179485543 179485543 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:179485543C>T ENST00000589042.1 - 247 46018 c.45794G>A c.(45793-45795)aGa>aAa p.R15265K TTN_ENST00000359218.5_Missense_Mutation_p.R6325K|TTN_ENST00000591111.1_Missense_Mutation_p.R13624K|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R12697K|TTN_ENST00000460472.2_Missense_Mutation_p.R6200K|TTN_ENST00000342175.6_Missense_Mutation_p.R6392K|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589907.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 13624 Fibronectin type-III 11. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) ATCTCTAATTCTGAGGGTGTA 0.363000 99 160 0 0 1 0 0 TBATA 219793 broad.mit.edu 37 10 72538357 72538357 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:72538357G>A ENST00000299290.1 - 6 852 c.463C>T c.(463-465)Cgg>Tgg p.R155W TBATA_ENST00000456372.2_Missense_Mutation_p.R155W|TBATA_ENST00000545575.1_Missense_Mutation_p.R144W NM_152710.2 NP_689923.2 thymus, brain and testes associated p.R155R(1) AAGGCCACCCGGGAAGCTAGC 0.587000 78 191 0 0 1 0 0 DNM3 26052 broad.mit.edu 37 1 172017826 172017826 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:172017826C>T ENST00000358155.4 + 10 1447 c.1271C>T c.(1270-1272)tCc>tTc p.S424F DNM3_ENST00000367731.1_Missense_Mutation_p.S424F|DNM3_ENST00000355305.5_Missense_Mutation_p.S424F|DNM3_ENST00000367733.2_Missense_Mutation_p.S424F|DNM3_ENST00000520906.1_Missense_Mutation_p.S424F NM_015569.3 NP_056384.2 Q9UQ16 DYN3_HUMAN dynamin 3 424 endocytosis|filopodium assembly|synapse assembly dendritic spine|microtubule|perinuclear region of cytoplasm|postsynaptic density GTP binding|GTPase activity|protein binding NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(16)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 37 AAAGGGCCTTCCTTGAAGAGT 0.398000 36 86 0 0 1 0 0 KCNH7 90134 broad.mit.edu 37 2 163374437 163374437 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:163374437G>A ENST00000332142.5 - 4 794 c.695C>T c.(694-696)tCc>tTc p.S232F KCNH7_ENST00000477019.1_5'UTR|KCNH7_ENST00000328032.4_Missense_Mutation_p.S232F NM_033272.3 NP_150375.2 Q9NS40 KCNH7_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 7 232 regulation of transcription, DNA-dependent integral to membrane protein binding|signal transducer activity NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3) 108 Ibutilide(DB00308) AAGAGGTCCGGATATATTCAC 0.483000 52 89 0 0 1 0 0 CHRM2 1129 broad.mit.edu 37 7 136700556 136700556 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:136700556C>T ENST00000445907.2 + 3 1472 c.944C>T c.(943-945)tCc>tTc p.S315F AC009264.1_ENST00000439694.1_RNA|CHRM2_ENST00000397608.3_Missense_Mutation_p.S315F|CHRM2_ENST00000453373.1_Missense_Mutation_p.S315F|AC009264.1_ENST00000598184.1_RNA|AC009264.1_ENST00000593789.1_RNA|AC009264.1_ENST00000425981.2_RNA|AC009264.1_ENST00000586239.1_RNA|CHRM2_ENST00000320658.5_Missense_Mutation_p.S315F|AC009264.1_ENST00000597642.1_RNA|AC009264.1_ENST00000592183.1_RNA|CHRM2_ENST00000402486.3_Missense_Mutation_p.S315F|CHRM2_ENST00000401861.1_Missense_Mutation_p.S315F NM_001006627.1|NM_001006629.1 NP_001006628.1|NP_001006630.1 P08172 ACM2_HUMAN cholinergic receptor, muscarinic 2 315 activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|nervous system development|regulation of heart contraction|response to virus cell junction|integral to plasma membrane|postsynaptic membrane muscarinic acetylcholine receptor activity|protein binding central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 68 Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508) CTGGGCCATTCCAAAGATGAG 0.468000 37 141 0 0 1 0 0 SERPINB3 6317 broad.mit.edu 37 18 61323203 61323203 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr18:61323203G>A ENST00000283752.5 - 8 1004 c.861C>T c.(859-861)ttC>ttT p.F287F SERPINB11_ENST00000489748.1_RNA|SERPINB3_ENST00000332821.8_Silent_p.F235F NM_006919.2 NP_008850.1 P29508 SPB3_HUMAN serpin peptidase inhibitor, clade B (ovalbumin), member 3 287 regulation of proteolysis cytoplasm|extracellular region protein binding|serine-type endopeptidase inhibitor activity breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|skin(5)|upper_aerodigestive_tract(2) 36 CTTCCACTTTGAACCGAGGTA 0.463000 32 86 0 0 1 0 0 STRN4 29888 broad.mit.edu 37 19 47228602 47228602 + Missense_Mutation SNP A A C TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:47228602A>C ENST00000391910.3 - 11 1930 c.1480T>G c.(1480-1482)Ttc>Gtc p.F494V STRN4_ENST00000594357.2_5'UTR|STRN4_ENST00000263280.6_Missense_Mutation_p.F487V|STRN4_ENST00000539396.1_Missense_Mutation_p.F368V Q9NRL3 STRN4_HUMAN striatin, calmodulin binding protein 4 487 cytoplasm|membrane armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212) OV - Ovarian serous cystadenocarcinoma(262;0.000563)|all cancers(93;0.00138)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.035) TGAGCCCGGAAAGCATGTATA 0.607000 11 342 0 0 1 0 0 RELN 5649 broad.mit.edu 37 7 103131239 103131239 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:103131239G>A ENST00000424685.2 - 59 9640 c.9481C>T c.(9481-9483)Cct>Tct p.P3161S CTB-107G13.1_ENST00000422488.1_RNA|RELN_ENST00000343529.5_Missense_Mutation_p.P3161S|RELN_ENST00000428762.1_Missense_Mutation_p.P3161S P78509 RELN_HUMAN reelin 3161 axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2) 227 COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184) GAAGAGGAAGGAAGGCACTGG 0.448000 43 96 0 0 1 0 0 PKHD1L1 93035 broad.mit.edu 37 8 110408283 110408283 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:110408283G>A ENST00000378402.5 + 11 943 c.839G>A c.(838-840)gGa>gAa p.G280E NM_177531.4 NP_803875.2 Q86WI1 PKHL1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 280 IPT/TIG 3. immune response cytosol|extracellular space|integral to membrane receptor activity NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4) 263 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) CCTTCACAAGGAAGCATTCGA 0.383000 HNSCC(38;0.096) 6 13 0 0 1 0 0 GRM7 2917 broad.mit.edu 37 3 7456752 7456752 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:7456752G>A ENST00000486284.1 + 5 1350 c.1076G>A c.(1075-1077)aGa>aAa p.R359K GRM7_ENST00000389336.4_Missense_Mutation_p.R359K|GRM7_ENST00000402647.2_Missense_Mutation_p.R359K|GRM7_ENST00000403881.1_Missense_Mutation_p.R359K|GRM7_ENST00000357716.4_Missense_Mutation_p.R359K NM_181874.2 NP_870989.1 Q14831 GRM7_HUMAN glutamate receptor, metabotropic 7 359 negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 76 L-Glutamic Acid(DB00142) GAAAACAACAGAAGAAATGTA 0.428000 11 43 0 0 1 0 0 WDR11 55717 broad.mit.edu 37 10 122622393 122622393 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:122622393C>T ENST00000263461.6 + 5 919 c.673C>T c.(673-675)Cta>Tta p.L225L NM_018117.11 NP_060587.8 Q9BZH6 WDR11_HUMAN WD repeat domain 11 225 integral to membrane breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(9)|prostate(2)|skin(2)|stomach(5) 38 CAAGAAAGCTCTAAATAAAGT 0.398000 55 123 0 0 1 0 0 BDKRB1 623 broad.mit.edu 37 14 96730992 96730992 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr14:96730992G>A ENST00000216629.6 + 3 1579 c.973G>A c.(973-975)Gaa>Aaa p.E325K RP11-404P21.3_ENST00000553638.1_RNA|BDKRB1_ENST00000553356.1_Intron NM_000710.3 NP_000701.2 P46663 BKRB1_HUMAN bradykinin receptor B1 325 elevation of cytosolic calcium ion concentration endoplasmic reticulum|integral to plasma membrane bradykinin receptor activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)|ovary(4)|skin(1)|urinary_tract(1) 16 all_cancers(154;0.0677)|Melanoma(154;0.155)|all_epithelial(191;0.179) COAD - Colon adenocarcinoma(157;0.208)|Epithelial(152;0.226) CAAGGTCTGGGAACTTTATAA 0.443000 118 221 0 0 1 0 0 ZNF607 84775 broad.mit.edu 37 19 38189614 38189614 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:38189614C>T ENST00000355202.4 - 5 2013 c.1418G>A c.(1417-1419)gGa>gAa p.G473E CTD-2528L19.4_ENST00000586606.2_Intron|ZNF607_ENST00000395835.3_Missense_Mutation_p.G472E NM_032689.4 NP_116078.4 Q96SK3 ZN607_HUMAN zinc finger protein 607 473 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|lung(8)|urinary_tract(1) 27 UCEC - Uterine corpus endometrioid carcinoma (49;0.0775) GGGTTTCTCTCCTGTATGAAT 0.378000 37 101 0 0 1 0 0 MAP1A 4130 broad.mit.edu 37 15 43814203 43814203 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr15:43814203C>T ENST00000382031.1 + 5 1277 c.1246C>T c.(1246-1248)Cgt>Tgt p.R416C MAP1A_ENST00000399453.1_Missense_Mutation_p.R178C|MAP1A_ENST00000300231.5_Missense_Mutation_p.R178C P78559 MAP1A_HUMAN microtubule-associated protein 1A 178 9 X 3 AA repeats of K-K-[DE].|Lys-rich (basic). EKKDKE -> KKKRNS (in Ref. 5; CAA87104). cytoplasm|microtubule|microtubule associated complex protein binding|structural molecule activity p.R178C(1) breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 66 all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;3.05e-06) Estramustine(DB01196) GCCTCTATATCGTGTGGTCAG 0.562000 37 73 0 0 1 0 0 GRID2 2895 broad.mit.edu 37 4 94006243 94006243 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:94006243C>T ENST00000282020.4 + 3 600 c.342C>T c.(340-342)atC>atT p.I114I GRID2_ENST00000505687.1_3'UTR|GRID2_ENST00000510992.1_Intron NM_001510.2 NP_001501.2 O43424 GRID2_HUMAN glutamate receptor, ionotropic, delta 2 114 glutamate signaling pathway cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 Hepatocellular(203;0.114)|all_hematologic(202;0.177) OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191) L-Glutamic Acid(DB00142) CCATGCATATCCCCCACCTCT 0.562000 30 82 0 0 1 0 0 PLS1 5357 broad.mit.edu 37 3 142388297 142388297 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:142388297C>T ENST00000337777.3 + 3 349 c.136C>T c.(136-138)Cct>Tct p.P46S PLS1_ENST00000497002.1_Missense_Mutation_p.P46S|PLS1_ENST00000457734.2_Missense_Mutation_p.P46S NM_002670.2 NP_002661.2 Q14651 PLSI_HUMAN plastin 1 46 EF-hand 1. cytoplasm actin filament binding|calcium ion binding|structural constituent of cytoskeleton NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1) 27 AGCAAGCCTTCCTCTGCCTGG 0.373000 61 120 0 0 1 0 0 DYDC1 143241 broad.mit.edu 37 10 82095920 82095920 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:82095920C>T ENST00000372204.3 - 8 690 c.526G>A c.(526-528)Gat>Aat p.D176N DYDC1_ENST00000372202.1_Missense_Mutation_p.D176N NM_138812.3 NP_620167.1 Q8WWB3 DYDC1_HUMAN DPY30 domain containing 1 176 kidney(1)|large_intestine(3)|skin(1) 5 Colorectal(32;0.229) TCCTACAAATCTTGATCAATG 0.289000 16 39 0 0 1 0 0 ABL1 25 broad.mit.edu 37 9 133729530 133729530 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:133729530C>T ENST00000318560.5 + 2 540 c.159C>T c.(157-159)aaC>aaT p.N53N NM_005157.4 NP_005148.2 P00519 ABL1_HUMAN c-abl oncogene 1, non-receptor tyrosine kinase 53 CAP. actin cytoskeleton organization|axon guidance|blood coagulation|cell adhesion|DNA damage induced protein phosphorylation|DNA damage response, signal transduction resulting in induction of apoptosis|mismatch repair|muscle cell differentiation|negative regulation of protein serine/threonine kinase activity|peptidyl-tyrosine phosphorylation|positive regulation of muscle cell differentiation|positive regulation of oxidoreductase activity|regulation of transcription involved in S phase of mitotic cell cycle cytoskeleton|cytosol|nuclear membrane|nucleolus|perinuclear region of cytoplasm ATP binding|DNA binding|magnesium ion binding|manganese ion binding|mitogen-activated protein kinase binding|non-membrane spanning protein tyrosine kinase activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 1195 all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;5.4e-05) Adenosine triphosphate(DB00171)|Dasatinib(DB01254)|Imatinib(DB00619) CCAAGGAAAACCTTCTCGCTG 0.493000 """T, Mis""" """BCR, ETV6, NUP214""" """CML, ALL, T-ALL""" 22 243 0 0 1 0 0 MECOM 2122 broad.mit.edu 37 3 168845663 168845663 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:168845663C>T ENST00000464456.1 - 4 1435 c.235G>A c.(235-237)Gaa>Aaa p.E79K MECOM_ENST00000433243.2_Missense_Mutation_p.E79K|MECOM_ENST00000460814.1_Missense_Mutation_p.E79K|MECOM_ENST00000494292.1_Missense_Mutation_p.E267K|MECOM_ENST00000392736.3_Missense_Mutation_p.E79K|MECOM_ENST00000264674.3_Missense_Mutation_p.E143K|MECOM_ENST00000472280.1_Missense_Mutation_p.E79K|MECOM_ENST00000468789.1_Missense_Mutation_p.E79K NM_001164000.1 NP_001157472.1 Q13465 MDS1_HUMAN MDS1 and EVI1 complex locus 0 sequence-specific DNA binding transcription factor activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4) 85 TGGTCACATTCCTTACACTCC 0.393000 73 141 0 0 1 0 0 PVRL2 5819 broad.mit.edu 37 19 45377598 45377598 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:45377598C>T ENST00000252483.5 + 5 905 c.905C>T c.(904-906)aCc>aTc p.T302I PVRL2_ENST00000252485.4_Missense_Mutation_p.T302I NM_001042724.1 NP_001036189.1 Q92692 PVRL2_HUMAN poliovirus receptor-related 2 (herpesvirus entry mediator B) 302 Ig-like C2-type 2. adherens junction organization|adhesion to symbiont|cell junction assembly|homophilic cell adhesion|positive regulation of immunoglobulin mediated immune response|positive regulation of mast cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|susceptibility to natural killer cell mediated cytotoxicity|susceptibility to T cell mediated cytotoxicity|viral envelope fusion with host membrane|virion attachment, binding of host cell surface coreceptor cell surface|integral to membrane|zonula adherens cell adhesion molecule binding|coreceptor activity|protein homodimerization activity breast(1)|endometrium(1)|large_intestine(6)|lung(5) 13 Lung NSC(12;0.00195)|all_lung(12;0.00522) Ovarian(192;0.0728)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.0143) ACCTCAGGCACCTTCCCGACC 0.612000 55 176 0 0 1 0 0 ATP1A4 480 broad.mit.edu 37 1 160125888 160125888 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:160125888C>T ENST00000368081.4 + 4 936 c.465C>T c.(463-465)tcC>tcT p.S155S NM_144699.3 NP_653300.2 Q13733 AT1A4_HUMAN ATPase, Na+/K+ transporting, alpha 4 polypeptide 155 S -> W (in Ref. 5; AAA60941). ATP biosynthetic process|ATP hydrolysis coupled proton transport|regulation of cellular pH|sperm motility sodium:potassium-exchanging ATPase complex ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 75 all_cancers(52;2.56e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) GCTGCTTCTCCTATTATCAGG 0.522000 24 89 0 0 1 0 0 FOLH1 2346 broad.mit.edu 37 11 49227709 49227709 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:49227709G>A ENST00000340334.7 - 3 457 c.89C>T c.(88-90)tCc>tTc p.S30F FOLH1_ENST00000256999.2_Missense_Mutation_p.S45F|FOLH1_ENST00000343844.4_5'UTR|FOLH1_ENST00000533034.1_Missense_Mutation_p.S30F|FOLH1_ENST00000356696.3_Missense_Mutation_p.S45F NM_001193471.1|NM_001193472.1 NP_001180400.1|NP_001180401.1 Q04609 FOLH1_HUMAN folate hydrolase (prostate-specific membrane antigen) 1 45 proteolysis cytoplasm|integral to plasma membrane|membrane fraction|nucleus carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 60 Capromab(DB00089)|L-Glutamic Acid(DB00142) TTCATTGGAGGATTTTATAAA 0.303000 23 77 0 0 1 0 0 LRP1B 53353 broad.mit.edu 37 2 141806755 141806755 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:141806755C>T ENST00000389484.3 - 11 2560 c.1589G>A c.(1588-1590)gGa>gAa p.G530E NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 530 protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) TCCTGGGCGTCCTTTCCCATA 0.393000 TSP Lung(27;0.18) 8 133 0 0 1 0 0 SGSM1 129049 broad.mit.edu 37 22 25243704 25243704 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr22:25243704C>T ENST00000400358.4 + 4 300 c.243C>T c.(241-243)ttC>ttT p.F81F SGSM1_ENST00000400359.4_Silent_p.F81F NM_001098497.1|NM_001098498.1 NP_001091967.1|NP_001091968.1 Q2NKQ1 SGSM1_HUMAN small G protein signaling modulator 1 81 RUN. Golgi apparatus Rab GTPase activator activity NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 41 GCAAGAACTTCCCGCCGGCTG 0.627000 24 32 0 0 1 0 0 GPR125 166647 broad.mit.edu 37 4 22517264 22517264 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:22517264C>T ENST00000334304.5 - 1 413 c.144G>A c.(142-144)cgG>cgA p.R48R GPR125_ENST00000502482.1_Silent_p.R48R NM_145290.2 NP_660333.2 Q8IWK6 GP125_HUMAN G protein-coupled receptor 125 48 neuropeptide signaling pathway integral to membrane G-protein coupled receptor activity breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1) 56 Breast(46;0.198) CCCCTCGGGGCCGCCCATCGT 0.761000 4 3 0 0 1 0 0 MEGF8 1954 broad.mit.edu 37 19 42867406 42867406 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:42867406C>T ENST00000334370.4 + 34 6699 c.6064C>T c.(6064-6066)Ctg>Ttg p.L2022L MEGF8_ENST00000251268.6_Silent_p.L2089L NM_001410.2 NP_001401.2 Q7Z7M0 MEGF8_HUMAN multiple EGF-like-domains 8 2089 integral to membrane calcium ion binding|structural molecule activity breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 50 Prostate(69;0.00682) GAGCAGCAGCCTGCAGCAGGT 0.647000 7 15 0 0 1 0 0 ABCG2 9429 broad.mit.edu 37 4 89034507 89034507 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:89034507G>A ENST00000237612.3 - 9 1687 c.1142C>T c.(1141-1143)tCc>tTc p.S381F ABCG2_ENST00000515655.1_Missense_Mutation_p.S381F NM_004827.2 NP_004818.2 Q9UNQ0 ABCG2_HUMAN ATP-binding cassette, sub-family G (WHITE), member 2 381 cellular iron ion homeostasis|urate metabolic process integral to membrane|plasma membrane ATP binding|heme transporter activity|protein homodimerization activity|xenobiotic-transporting ATPase activity breast(5)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(13)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 42 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;7.02e-05) Imatinib(DB00619)|Mitoxantrone(DB01204)|Nicardipine(DB00622)|Nitrendipine(DB01054)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Topotecan(DB01030) TGAACGCTTGGAAACCCATCT 0.443000 6 188 0 0 1 0 0 FNDC1 84624 broad.mit.edu 37 6 159654320 159654320 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:159654320C>T ENST00000297267.9 + 11 2976 c.2776C>T c.(2776-2778)Cca>Tca p.P926S FNDC1_ENST00000340366.6_Missense_Mutation_p.P863S NM_032532.2 NP_115921.2 Q4ZHG4 FNDC1_HUMAN fibronectin type III domain containing 1 926 extracellular region NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3) 93 Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195) OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05) GGAACCCATCCCAGAGAACCC 0.617000 20 19 0 0 1 0 0 ZBTB16 7704 broad.mit.edu 37 11 113934918 113934918 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:113934918G>A ENST00000335953.4 + 2 1276 c.896G>A c.(895-897)cGa>cAa p.R299Q ZBTB16_ENST00000392996.2_Missense_Mutation_p.R299Q NM_006006.4 NP_005997.2 Q05516 ZBT16_HUMAN zinc finger and BTB domain containing 16 299 apoptosis|central nervous system development|mesonephros development|myeloid cell differentiation|negative regulation of myeloid cell differentiation|negative regulation of transcription, DNA-dependent nuclear speck|PML body|transcriptional repressor complex protein homodimerization activity|zinc ion binding central_nervous_system(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(2) 6 all_cancers(61;3.79e-18)|all_epithelial(67;2.32e-10)|all_hematologic(158;2.96e-05)|Melanoma(852;0.000362)|Acute lymphoblastic leukemia(157;0.00108)|Breast(348;0.0104)|all_neural(223;0.0294)|Prostate(24;0.0318)|Medulloblastoma(222;0.0438) BRCA - Breast invasive adenocarcinoma(274;6.75e-06)|Epithelial(105;0.000181)|all cancers(92;0.0018) CACTATGGGCGAGAGGAGAGT 0.662000 17 31 0 0 1 0 0 TBL1Y 90665 broad.mit.edu 37 Y 6939866 6939866 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chrY:6939866G>A ENST00000383032.1 + 12 1536 c.889G>A c.(889-891)Gac>Aac p.D297N TBL1Y_ENST00000346432.3_Missense_Mutation_p.D297N|TBL1Y_ENST00000355162.2_Missense_Mutation_p.D297N NM_033284.1 NP_150600.1 Q9BQ87 TBL1Y_HUMAN transducin (beta)-like 1, Y-linked 297 transcription, DNA-dependent kidney(1)|large_intestine(4)|lung(2)|skin(1) 8 TGCTGGTGTAGACAAAGTGAG 0.423000 8 14 0 0 1 0 0 HKDC1 80201 broad.mit.edu 37 10 71025383 71025383 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:71025383G>A ENST00000354624.5 + 17 2548 c.2415G>A c.(2413-2415)caG>caA p.Q805Q RP11-227H15.5_ENST00000413220.1_RNA NM_025130.3 NP_079406.3 Q2TB90 HKDC1_HUMAN hexokinase domain containing 1 805 glycolysis mitochondrion|nucleus ATP binding|hexokinase activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 34 TTCTGCAGCAGCTGGGCCTGG 0.677000 34 106 0 0 1 0 0 CDRT1 374286 broad.mit.edu 37 17 15492332 15492332 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:15492332G>A ENST00000395906.3 - 12 2215 c.2216C>T c.(2215-2217)cCg>cTg p.P739L RP11-385D13.1_ENST00000455584.2_Intron|CDRT1_ENST00000354433.3_Missense_Mutation_p.P239L|CDRT1_ENST00000583965.1_3'UTR NM_006382.3 NP_006373.2 O95170 CDRT1_HUMAN CMT1A duplicated region transcript 1 739 endometrium(2)|kidney(1)|large_intestine(4)|lung(1)|stomach(1)|upper_aerodigestive_tract(1) 10 UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)|READ - Rectum adenocarcinoma(2;1.36e-05)|BRCA - Breast invasive adenocarcinoma(8;0.0541) CACATGGGTCGGAGCTGTGGT 0.577000 17 49 0 0 1 0 0 GPR115 221393 broad.mit.edu 37 6 47680330 47680330 + Nonsense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:47680330C>T ENST00000283303.2 + 5 796 c.538C>T c.(538-540)Cga>Tga p.R180* GPR115_ENST00000327753.3_Nonsense_Mutation_p.R180*|GPR115_ENST00000371220.1_Nonsense_Mutation_p.R237* NM_153838.3 NP_722580.3 Q8IZF3 GP115_HUMAN G protein-coupled receptor 115 180 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity p.R180R(1) NS(1)|breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 52 TAATGTTACTCGAGAGAAAAT 0.274000 23 66 0 0 1 0 0 ADAMTSL5 339366 broad.mit.edu 37 19 1510858 1510858 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:1510858C>T ENST00000330475.4 - 2 528 c.85G>A c.(85-87)Ggg>Agg p.G29R ADAMTSL5_ENST00000590562.1_5'UTR|ADAMTSL5_ENST00000395467.2_5'UTR|ADAMTSL5_ENST00000413997.2_Missense_Mutation_p.G39R NM_213604.2 NP_998769.2 Q6ZMM2 ATL5_HUMAN ADAMTS-like 5 29 proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding cervix(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 10 Acute lymphoblastic leukemia(61;5.61e-13)|all_hematologic(61;2.65e-08) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GCACTGACCCCCAAACCACAG 0.652000 9 21 0 0 1 0 0 CYP7B1 9420 broad.mit.edu 37 8 65527718 65527718 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:65527718G>A ENST00000310193.3 - 4 1095 c.922C>T c.(922-924)Ctt>Ttt p.L308F CYP7B1_ENST00000523954.1_5'UTR NM_004820.3 NP_004811.1 O75881 CP7B1_HUMAN cytochrome P450, family 7, subfamily B, polypeptide 1 308 bile acid biosynthetic process|cell death|cholesterol metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome 25-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 28 all_cancers(86;0.217)|Lung NSC(129;0.0521)|all_lung(136;0.0906)|all_epithelial(80;0.215) TGCCGCAGAAGATAATACATT 0.463000 8 72 0 0 1 0 0 JPH2 57158 broad.mit.edu 37 20 42788508 42788508 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr20:42788508C>T ENST00000372980.3 - 2 1791 c.919G>A c.(919-921)Gaa>Aaa p.E307K NM_020433.4 NP_065166.2 Q9BR39 JPH2_HUMAN junctophilin 2 307 calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(19)|prostate(1)|upper_aerodigestive_tract(1) 32 Myeloproliferative disorder(115;0.0122) COAD - Colon adenocarcinoma(18;0.00189) CTGGAGCGTTCGCTCACGCCG 0.677000 13 42 0 0 1 0 0 MTUS1 57509 broad.mit.edu 37 8 17611418 17611418 + Missense_Mutation SNP C C A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:17611418C>A ENST00000381869.3 - 2 2372 c.1899G>T c.(1897-1899)ttG>ttT p.L633F MTUS1_ENST00000381862.3_Missense_Mutation_p.L633F|MTUS1_ENST00000262102.6_Missense_Mutation_p.L633F|MTUS1_ENST00000519263.1_Missense_Mutation_p.L633F NM_001001925.2 NP_001001925.1 Q9ULD2 MTUS1_HUMAN microtubule associated tumor suppressor 1 633 Golgi apparatus|microtubule|microtubule organizing center|mitochondrion|nucleus|plasma membrane|spindle breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(14)|lung(8)|ovary(1)|skin(2)|urinary_tract(1) 36 Colorectal(111;0.0778) TCTTCTGAAACAACGCAGAAA 0.438000 7 135 3.09899e-07 3.11352e-07 1 1 0 NOTCH3 4854 broad.mit.edu 37 19 15302860 15302860 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:15302860G>A ENST00000263388.2 - 4 665 c.590C>T c.(589-591)cCc>cTc p.P197L NM_000435.2 NP_000426.2 Q9UM47 NOTC3_HUMAN notch 3 197 EGF-like 5. Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane calcium ion binding|protein binding|receptor activity breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 93 OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15) GGGCACCGCGGGGTTCTCACA 0.647000 31 58 0 0 1 0 0 ITGB2 3689 broad.mit.edu 37 21 46320331 46320331 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr21:46320331G>A ENST00000397850.2 - 8 1253 c.801C>T c.(799-801)ttC>ttT p.F267F ITGB2_ENST00000397857.1_Silent_p.F267F|ITGB2_ENST00000355153.4_Silent_p.F267F|ITGB2_ENST00000397854.3_Silent_p.F210F|ITGB2_ENST00000302347.5_Silent_p.F267F|ITGB2_ENST00000397852.1_Silent_p.F267F P05107 ITB2_HUMAN integrin, beta 2 (complement component 3 receptor 3 and 4 subunit) 267 VWFA. apoptosis|blood coagulation|cell-cell signaling|cell-matrix adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|multicellular organismal development|neutrophil chemotaxis|regulation of cell shape|regulation of immune response|regulation of peptidyl-tyrosine phosphorylation integrin complex glycoprotein binding|protein kinase binding|receptor activity breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(4)|skin(3) 35 Colorectal(79;0.0669) Simvastatin(DB00641) CCGCGAAATGGAAGCCGTCAT 0.607000 5 138 0 0 1 0 0 KAT6A 7994 broad.mit.edu 37 8 41791935 41791935 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:41791935G>A ENST00000396930.3 - 18 4346 c.3803C>T c.(3802-3804)cCt>cTt p.P1268L KAT6A_ENST00000265713.2_Missense_Mutation_p.P1268L|KAT6A_ENST00000406337.1_Missense_Mutation_p.P1268L NM_001099412.1 NP_001092882.1 Q92794 MYST3_HUMAN K(lysine) acetyltransferase 6A 1268 Glu-rich. histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent MOZ/MORF histone acetyltransferase complex|nucleosome DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding ctccacctcAGGCTCCTTGGT 0.587000 10 31 0 0 1 0 0 CALCRL 10203 broad.mit.edu 37 2 188247934 188247934 + Silent SNP T T C TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:188247934T>C ENST00000409998.1 - 6 931 c.150A>G c.(148-150)caA>caG p.Q50Q CALCRL_ENST00000392370.3_Silent_p.Q50Q|AC007319.1_ENST00000412276.1_RNA|CALCRL_ENST00000410068.1_Silent_p.Q50Q|AC007319.1_ENST00000453517.1_RNA Q16602 CALRL_HUMAN calcitonin receptor-like 50 integral to plasma membrane endometrium(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(1) 32 OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(96;0.227) GCATAATCTTTTGGTAACATT 0.343000 45 95 0 0 1 0 0 ST6GAL2 84620 broad.mit.edu 37 2 107446630 107446630 + Nonsense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:107446630G>A ENST00000409382.3 - 5 1820 c.1210C>T c.(1210-1212)Cag>Tag p.Q404* ST6GAL2_ENST00000409087.3_Nonsense_Mutation_p.Q404*|ST6GAL2_ENST00000361686.4_Nonsense_Mutation_p.Q404* NM_001142351.1 NP_001135823.1 Q96JF0 SIAT2_HUMAN ST6 beta-galactosamide alpha-2,6-sialyltranferase 2 404 growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation Golgi cisterna membrane|integral to Golgi membrane beta-galactoside alpha-2,6-sialyltransferase activity autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 65 TAAAATGGCTGATTTGGGTTT 0.378000 39 109 0 0 1 0 0 FAM49A 81553 broad.mit.edu 37 2 16743338 16743338 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:16743338C>T ENST00000381323.3 - 6 590 c.370G>A c.(370-372)Gaa>Aaa p.E124K FAM49A_ENST00000355549.2_Missense_Mutation_p.E124K|FAM49A_ENST00000406434.1_Missense_Mutation_p.E124K NM_030797.3 NP_110424.1 Q9H0Q0 FA49A_HUMAN family with sequence similarity 49, member A 124 intracellular breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|skin(3)|upper_aerodigestive_tract(1) 23 Acute lymphoblastic leukemia(172;0.0734)|all_hematologic(175;0.088) GBM - Glioblastoma multiforme(3;0.00969) AGGGCCTGTTCCCTTTCCAGG 0.403000 27 77 0 0 1 0 0 LILRP2 79166 broad.mit.edu 37 19 55221461 55221461 + RNA SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:55221461G>A ENST00000413439.1 + 0 1241 CAAGGAGGGGGGACATGACCT 0.652000 34 43 0 0 1 0 0 ZNF512 84450 broad.mit.edu 37 2 27823589 27823589 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:27823589C>T ENST00000355467.4 + 6 572 c.489C>T c.(487-489)atC>atT p.I163I ZNF512_ENST00000413371.2_Silent_p.I86I|ZNF512_ENST00000416005.2_Silent_p.I134I|ZNF512_ENST00000494548.1_3'UTR|ZNF512_ENST00000556601.1_Intron|RP11-158I13.2_ENST00000505973.1_RNA|ZNF512_ENST00000379717.1_Silent_p.I162I Q96ME7 ZN512_HUMAN zinc finger protein 512 163 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 Acute lymphoblastic leukemia(172;0.155) ACTTAGAAATCGTTGATAAAG 0.443000 32 77 0 0 1 0 0 PAK7 57144 broad.mit.edu 37 20 9560857 9560857 + Nonsense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr20:9560857G>A ENST00000378429.3 - 5 1471 c.925C>T c.(925-927)Caa>Taa p.Q309* PAK7_ENST00000353224.5_Nonsense_Mutation_p.Q309*|PAK7_ENST00000378423.1_Nonsense_Mutation_p.Q309* NM_020341.3 NP_065074.1 Q9P286 PAK7_HUMAN p21 protein (Cdc42/Rac)-activated kinase 7 309 Linker. ATP binding|protein binding|protein serine/threonine kinase activity NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3) 81 COAD - Colon adenocarcinoma(9;0.194) GAGTGTCCTTGGGGATGGGTT 0.552000 7 214 0 0 1 0 0 GRIN2B 2904 broad.mit.edu 37 12 13761585 13761585 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:13761585C>T ENST00000279593.3 - 9 2171 c.1962G>A c.(1960-1962)atG>atA p.M654I NM_000834.3 NP_000825.2 Q13224 NMDE2_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2B 654 response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1) 143 Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) CCTCTTGGATCATGAAGGCAG 0.502000 16 38 0 0 1 0 0 OR2T33 391195 broad.mit.edu 37 1 248437027 248437027 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:248437027C>T ENST00000318021.2 - 1 111 c.90G>A c.(88-90)ctG>ctA p.L30L NM_001004695.1 NP_001004695.1 Q8NG76 O2T33_HUMAN olfactory receptor, family 2, subfamily T, member 33 30 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4) 67 all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0245) AAACGATACTCAGAACCATCA 0.488000 80 95 0 0 1 0 0 OPRK1 4986 broad.mit.edu 37 8 54163431 54163431 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:54163431G>A ENST00000265572.3 - 2 464 c.167C>T c.(166-168)cCg>cTg p.P56L OPRK1_ENST00000520287.1_Missense_Mutation_p.P56L NM_000912.3 NP_000903.2 P41145 OPRK_HUMAN opioid receptor, kappa 1 56 behavior|immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception|synaptic transmission|viral genome replication integral to plasma membrane kappa-opioid receptor activity|protein binding NS(2)|breast(3)|endometrium(3)|kidney(12)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1) 43 all_epithelial(80;0.066)|Lung NSC(129;0.0804)|all_lung(136;0.136) Buprenorphine(DB00921)|Butorphanol(DB00611)|Cocaine(DB00907)|Codeine(DB00318)|Dezocine(DB01209)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Meperidine(DB00454)|Mirtazapine(DB00370)|Morphine(DB00295)|Nalbuphine(DB00844)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Tramadol(DB00193) CGGGATGGCCGGGGAGATGTG 0.687000 21 48 0 0 1 0 0 DSCAM 1826 broad.mit.edu 37 21 41710281 41710281 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr21:41710281C>T ENST00000400454.1 - 8 2007 c.1530G>A c.(1528-1530)atG>atA p.M510I NM_001389.3 NP_001380.2 O60469 DSCAM_HUMAN Down syndrome cell adhesion molecule 510 Ig-like C2-type 6. cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction protein binding NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4) 142 all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103) TGATGTTTTTCATTGGTCGAA 0.418000 27 41 0 0 1 0 0 FER1L6 654463 broad.mit.edu 37 8 124992868 124992868 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:124992868G>A ENST00000522917.1 + 11 1433 c.1227G>A c.(1225-1227)cgG>cgA p.R409R FER1L6_ENST00000399018.1_Silent_p.R409R NM_001039112.2 NP_001034201.2 Q2WGJ9 FR1L6_HUMAN fer-1-like 6 (C. elegans) 409 integral to membrane NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1) 118 Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741) STAD - Stomach adenocarcinoma(47;0.00186) TCTCAGGACGGGCACAGGAAT 0.463000 OREG0018964 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 15 183 0 0 1 0 0 TCTN1 79600 broad.mit.edu 37 12 111078251 111078251 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:111078251G>A ENST00000551590.1 + 8 1063 c.907G>A c.(907-909)Gac>Aac p.D303N HVCN1_ENST00000548312.1_Intron|TCTN1_ENST00000377654.3_Missense_Mutation_p.D125N|TCTN1_ENST00000397659.4_Missense_Mutation_p.D303N|TCTN1_ENST00000397655.3_Missense_Mutation_p.D289N|TCTN1_ENST00000551555.2_3'UTR Q2MV58 TECT1_HUMAN tectonic family member 1 303 multicellular organismal development extracellular region NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(9)|urinary_tract(1) 15 CCGACGGGAGGACACTGATGT 0.502000 23 57 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179487441 179487441 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:179487441C>T ENST00000589042.1 - 243 45093 c.44869G>A c.(44869-44871)Gaa>Aaa p.E14957K TTN_ENST00000359218.5_Missense_Mutation_p.E6017K|TTN_ENST00000591111.1_Missense_Mutation_p.E13316K|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E12389K|TTN_ENST00000460472.2_Missense_Mutation_p.E5892K|TTN_ENST00000342175.6_Missense_Mutation_p.E6084K|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589907.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 13316 Fibronectin type-III 8. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) CGAGCCATTTCTTTTTCTCTA 0.363000 9 19 0 0 1 0 0 FGG 2266 broad.mit.edu 37 4 155528034 155528034 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:155528034C>T ENST00000404648.3 - 8 1191 c.952G>A c.(952-954)Ggc>Agc p.G318S FGG_ENST00000405164.1_Missense_Mutation_p.G326S|FGG_ENST00000407946.1_Missense_Mutation_p.G326S|FGG_ENST00000336098.3_Missense_Mutation_p.G318S NM_000509.4 NP_000500.2 P02679 FIBG_HUMAN fibrinogen gamma chain 318 Fibrinogen C-terminal. G -> V (in Baltimore-1; impaired polymerization). platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen eukaryotic cell surface binding|protein binding, bridging|receptor binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 all_hematologic(180;0.215) Renal(120;0.0458) Sucralfate(DB00364) AAATCAAAGCCATCAAAGGCA 0.463000 62 91 0 0 1 0 0 TLL1 7092 broad.mit.edu 37 4 166986977 166986977 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:166986977C>T ENST00000061240.2 + 16 2797 c.2150C>T c.(2149-2151)aCt>aTt p.T717I TLL1_ENST00000507499.1_Missense_Mutation_p.T740I NM_012464.4 NP_036596.3 O43897 TLL1_HUMAN tolloid-like 1 717 CUB 3. cell differentiation|proteolysis|skeletal system development extracellular region calcium ion binding|metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 77 all_hematologic(180;0.221) Melanoma(52;0.0315)|Prostate(90;0.0405) GBM - Glioblastoma multiforme(119;0.103) TCTGACAATACTGTATCCAAG 0.368000 9 122 0 0 1 0 0 OR6B1 135946 broad.mit.edu 37 7 143701532 143701532 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:143701532C>T ENST00000408922.2 + 1 511 c.443C>T c.(442-444)tCc>tTc p.S148F NM_001005281.1 NP_001005281.1 O95007 OR6B1_HUMAN olfactory receptor, family 6, subfamily B, member 1 148 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(3)|large_intestine(3)|lung(15)|ovary(2)|skin(2)|urinary_tract(1) 27 Melanoma(164;0.0783) GCTCTTGGTTCCTGGGCCATT 0.562000 38 94 0 0 1 0 0 ANXA1 301 broad.mit.edu 37 9 75780054 75780054 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:75780054G>A ENST00000376911.1 + 8 1517 c.635G>A c.(634-636)aGg>aAg p.R212K ANXA1_ENST00000257497.6_Missense_Mutation_p.R212K P04083 ANXA1_HUMAN annexin A1 212 alpha-beta T cell differentiation|anti-apoptosis|cell surface receptor linked signaling pathway|cellular component movement|inflammatory response|keratinocyte differentiation|lipid metabolic process|peptide cross-linking|positive regulation of vesicle fusion basolateral plasma membrane|cilium|cornified envelope|cytoplasm|extracellular region|nucleus calcium ion binding|calcium-dependent phospholipid binding|phospholipase A2 inhibitor activity|protein binding, bridging|receptor binding|structural molecule activity breast(1)|central_nervous_system(1)|large_intestine(1)|lung(5) 8 all_epithelial(88;2.54e-11) OV - Ovarian serous cystadenocarcinoma(323;2.82e-06)|GBM - Glioblastoma multiforme(74;0.0325) Alclometasone(DB00240)|Amcinonide(DB00288)|Beclomethasone(DB00394)|Betamethasone(DB00443)|Clobetasol(DB01013)|Clocortolone(DB00838)|Desonide(DB01260)|Desoximetasone(DB00547)|Dexamethasone(DB01234)|Diflorasone(DB00223)|Flumethasone Pivalate(DB00663)|Halobetasol Propionate(DB00596)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Loteprednol Etabonate(DB00873)|Methylprednisolone(DB00959)|Mometasone(DB00764)|Prednicarbate(DB01130)|Prednisone(DB00635)|Rimexolone(DB00896)|Triamcinolone(DB00620) GCAGGAGAAAGGAGAAAGGGG 0.393000 26 45 0 0 1 0 0 CD19 930 broad.mit.edu 37 16 28949094 28949094 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr16:28949094C>T ENST00000538922.1 + 12 1496 c.1434C>T c.(1432-1434)ttC>ttT p.F478F CD19_ENST00000324662.3_Silent_p.F478F|CD19_ENST00000567541.1_Silent_p.F478F NM_001178098.1|NM_001770.5 NP_001171569.1|NP_001761.3 P15391 CD19_HUMAN CD19 molecule 478 cellular defense response external side of plasma membrane|integral to plasma membrane protein binding|receptor signaling protein activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(4)|urinary_tract(1) 29 TTCCAGACTTCCTGAGCCCTC 0.602000 36 84 0 0 1 0 0 ILKAP 80895 broad.mit.edu 37 2 239102963 239102963 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:239102963C>T ENST00000254654.3 - 3 306 c.131G>A c.(130-132)gGa>gAa p.G44E NM_030768.2 NP_110395.1 Q9H0C8 ILKAP_HUMAN integrin-linked kinase-associated serine/threonine phosphatase 44 cytoplasm|protein serine/threonine phosphatase complex metal ion binding|protein binding endometrium(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 19 Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_lung(227;0.152)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Hepatocellular(293;0.244) Epithelial(121;5.49e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.93e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.82e-08)|BRCA - Breast invasive adenocarcinoma(100;0.00012)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0163) AAGCAAAGGTCCCCCTGATCC 0.423000 8 36 0 0 1 0 0 MED13 9969 broad.mit.edu 37 17 60087964 60087964 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:60087964G>A ENST00000397786.2 - 9 1990 c.1914C>T c.(1912-1914)ttC>ttT p.F638F NM_005121.2 NP_005112.2 Q9UHV7 MED13_HUMAN mediator complex subunit 13 638 androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 88 GATCATCCTTGAATTTATCAC 0.348000 25 87 0 0 1 0 0 ADAM22 53616 broad.mit.edu 37 7 87778291 87778291 + Splice_Site SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:87778291G>A ENST00000398204.4 + 18 1808 c.e18-1 ADAM22_ENST00000265727.7_Splice_Site|ADAM22_ENST00000315984.7_Splice_Site|ADAM22_ENST00000398201.4_Splice_Site|ADAM22_ENST00000398209.3_Splice_Site NM_016351.4|NM_021723.3 NP_057435.2|NP_068369.1 Q9P0K1 ADA22_HUMAN ADAM metallopeptidase domain 22 cell adhesion|central nervous system development|negative regulation of cell adhesion|proteolysis integral to membrane integrin binding|metalloendopeptidase activity|protein binding|receptor activity|zinc ion binding endometrium(7)|kidney(4)|large_intestine(7)|liver(2)|lung(20)|ovary(6)|prostate(4)|skin(3) 53 Esophageal squamous(14;0.00202) STAD - Stomach adenocarcinoma(171;0.215) GTTCATTTTAGTTTCAGCCTA 0.333000 10 29 0 0 1 0 0 HSPD1 3329 broad.mit.edu 37 2 198351898 198351898 + Missense_Mutation SNP C C A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:198351898C>A ENST00000388968.3 - 12 1861 c.1594G>T c.(1594-1596)Gct>Tct p.A532S HSPD1_ENST00000345042.2_Missense_Mutation_p.A532S NM_002156.4 NP_002147.2 P10809 CH60_HUMAN heat shock 60kDa protein 1 (chaperonin) 532 'de novo' protein folding|activation of caspase activity|B cell cytokine production|B cell proliferation|chaperone-mediated protein complex assembly|interspecies interaction between organisms|isotype switching to IgG isotypes|MyD88-dependent toll-like receptor signaling pathway|negative regulation of apoptosis|positive regulation of apoptosis|positive regulation of interferon-alpha production|positive regulation of interferon-gamma production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of macrophage activation|positive regulation of T cell activation|positive regulation of T cell mediated immune response to tumor cell|protein maturation|protein refolding|protein stabilization|response to unfolded protein|T cell activation cell surface|coated pit|coated vesicle|cytosol|early endosome|extracellular space|lipopolysaccharide receptor complex|mitochondrial inner membrane|mitochondrial matrix|stored secretory granule ATP binding|ATPase activity|cell surface binding|chaperone binding|DNA replication origin binding|lipopolysaccharide binding|p53 binding|single-stranded DNA binding NS(1)|breast(3)|endometrium(2)|large_intestine(3)|lung(7)|skin(1) 17 Epithelial(96;0.225) ACACCAGCAGCATCCAATAAA 0.393000 24 56 1.06801e-11 1.07532e-11 1 1 0 GLRA2 2742 broad.mit.edu 37 X 14748392 14748392 + Nonsense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chrX:14748392C>T ENST00000218075.4 + 9 1674 c.1144C>T c.(1144-1146)Caa>Taa p.Q382* GLRA2_ENST00000355020.4_Nonsense_Mutation_p.Q382*|GLRA2_ENST00000443437.2_Nonsense_Mutation_p.Q293* NM_002063.3 NP_002054.1 P23416 GLRA2_HUMAN glycine receptor, alpha 2 382 neuropeptide signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(22)|ovary(1)|prostate(1)|skin(2) 37 Hepatocellular(33;0.128) Ethanol(DB00898)|Glycine(DB00145) TCACTGCCTCCAAGTGAAAGA 0.488000 259 51 0 0 1 0 0 NIPAL2 79815 broad.mit.edu 37 8 99264714 99264714 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:99264714G>A ENST00000341166.3 - 3 608 c.353C>T c.(352-354)cCg>cTg p.P118L NIPAL2_ENST00000430223.2_Missense_Mutation_p.P118L NM_024759.1 NP_079035.1 Q9H841 NPAL2_HUMAN NIPA-like domain containing 2 118 integral to membrane cervix(3)|kidney(1)|large_intestine(2)|lung(5)|stomach(1) 12 ACAGCCTAACGGAGCGATCAG 0.463000 16 101 0 0 1 0 0 KCNJ15 3772 broad.mit.edu 37 21 39671970 39671970 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr21:39671970C>T ENST00000398930.1 + 4 1141 c.787C>T c.(787-789)Ccc>Tcc p.P263S KCNJ15_ENST00000398934.1_Missense_Mutation_p.P263S|KCNJ15_ENST00000328656.3_Missense_Mutation_p.P263S|KCNJ15_ENST00000398932.1_Missense_Mutation_p.P263S|KCNJ15_ENST00000398938.2_Missense_Mutation_p.P263S Q99712 IRK15_HUMAN potassium inwardly-rectifying channel, subfamily J, member 15 263 synaptic transmission integral to plasma membrane inward rectifier potassium channel activity autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1) 24 TGAGACGAGCCCCCTGAGAGA 0.547000 26 56 0 0 1 0 0 PIK3R5 23533 broad.mit.edu 37 17 8785198 8785198 + Splice_Site SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:8785198C>T ENST00000447110.1 - 16 2330 c.2205_splice c.e16-1 p.G736_splice PIK3R5_ENST00000581552.1_Splice_Site_p.G736_splice|PIK3R5_ENST00000584803.1_Splice_Site_p.G735_splice NM_001142633.2|NM_001251851.1|NM_001251852.1|NM_001251853.1|NM_001251855.1 NP_001136105.1|NP_001238780.1|NP_001238781.1|NP_001238782.1|NP_001238784.1 Q8WYR1 PI3R5_HUMAN phosphoinositide-3-kinase, regulatory subunit 5 736 Interaction with G beta gamma proteins (By similarity). platelet activation cytosol|membrane|nucleus breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1) 34 CTGATGGCCCCCTGGAAATGC 0.597000 21 24 0 0 1 0 0 MINK1 50488 broad.mit.edu 37 17 4795467 4795467 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:4795467C>T ENST00000355280.6 + 17 2221 c.2025C>T c.(2023-2025)atC>atT p.I675I MINK1_ENST00000453408.3_Silent_p.I655I|MINK1_ENST00000347992.7_Silent_p.I675I NM_001024937.3|NM_015716.4|NM_153827.4 NP_001020108.1|NP_056531.1|NP_722549.2 Q8N4C8 MINK1_HUMAN misshapen-like kinase 1 675 JNK cascade cytoplasm ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity central_nervous_system(2)|large_intestine(1)|lung(1)|skin(1)|stomach(1) 6 CCTCATCTATCGCCACTGCCC 0.622000 6 13 0 0 1 0 0 PLAUR 5329 broad.mit.edu 37 19 44160773 44160773 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:44160773G>A ENST00000221264.4 - 4 756 c.330C>T c.(328-330)tcC>tcT p.S110S PLAUR_ENST00000340093.3_Silent_p.S110S|PLAUR_ENST00000339082.3_Silent_p.S110S|PLAUR_ENST00000601723.1_Silent_p.S110S NM_001005377.2 NP_001005377.1 Q03405 UPAR_HUMAN plasminogen activator, urokinase receptor 110 UPAR/Ly6 1. attachment of GPI anchor to protein|blood coagulation|C-terminal protein lipidation|cellular component movement|chemotaxis|fibrinolysis|regulation of proteolysis anchored to membrane|cell surface|endoplasmic reticulum lumen|endoplasmic reticulum membrane|extracellular region|extrinsic to membrane|integral to membrane|plasma membrane enzyme binding|U-plasminogen activator receptor activity endometrium(1)|kidney(4)|large_intestine(5)|lung(5)|ovary(1)|stomach(1)|urinary_tract(3) 20 Prostate(69;0.0153) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Streptokinase(DB00086)|Tenecteplase(DB00031)|Urokinase(DB00013) AACGGCTTCGGGAATAGGTGA 0.592000 4 98 0 0 1 0 0 ABAT 18 broad.mit.edu 37 16 8839943 8839943 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr16:8839943G>A ENST00000396600.2 + 3 1094 c.156G>A c.(154-156)ggG>ggA p.G52G ABAT_ENST00000268251.8_Silent_p.G52G|ABAT_ENST00000569156.1_Silent_p.G52G|ABAT_ENST00000567812.1_Silent_p.G67G|ABAT_ENST00000425191.2_Silent_p.G52G NM_000663.4 NP_000654.2 P80404 GABT_HUMAN 4-aminobutyrate aminotransferase 52 behavioral response to cocaine|gamma-aminobutyric acid catabolic process|neurotransmitter catabolic process|neurotransmitter secretion 4-aminobutyrate transaminase complex|mitochondrial matrix (S)-3-amino-2-methylpropionate transaminase activity|4-aminobutyrate transaminase activity|protein homodimerization activity|pyridoxal phosphate binding|succinate-semialdehyde dehydrogenase binding breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|skin(3)|upper_aerodigestive_tract(2) 26 Divalproex sodium(DB00510)|Isoniazid(DB00951)|L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119)|Tiagabine(DB00906)|Valproic Acid(DB00313)|Vigabatrin(DB01080) AAGTCCCAGGGCCTAGATCTC 0.483000 18 43 0 0 1 0 0 TMC2 117532 broad.mit.edu 37 20 2577944 2577944 + Splice_Site SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr20:2577944G>A ENST00000358864.1 + 10 1239 c.1224_splice c.e10+1 p.K408_splice NM_080751.2 NP_542789.2 Q8TDI7 TMC2_HUMAN transmembrane channel-like 2 408 integral to membrane NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 35 CCAGCTTCAAGGTAGTCACCC 0.488000 15 45 0 0 1 0 0 SYPL2 284612 broad.mit.edu 37 1 110019591 110019591 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:110019591C>T ENST00000369872.3 + 4 664 c.448C>T c.(448-450)Ccg>Tcg p.P150S SYPL2_ENST00000401021.3_Missense_Mutation_p.P150S NM_001040709.1 NP_001035799.1 Q5VXT5 SYPL2_HUMAN synaptophysin-like 2 150 MARVEL. integral to membrane|synaptic vesicle transporter activity breast(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 16 all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244) Colorectal(144;0.0129)|Lung(183;0.0436)|READ - Rectum adenocarcinoma(129;0.0698)|Epithelial(280;0.0808)|all cancers(265;0.0869)|LUSC - Lung squamous cell carcinoma(189;0.231) CAAACGCTTCCCGCTGGTGGT 0.527000 19 40 0 0 1 0 0 PITPNM2 57605 broad.mit.edu 37 12 123498542 123498542 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:123498542G>A ENST00000280562.5 - 3 331 c.126C>T c.(124-126)atC>atT p.I42I PITPNM2_ENST00000320201.4_Silent_p.I42I|PITPNM2_ENST00000392428.1_Silent_p.I42I|PITPNM2_ENST00000546049.1_Silent_p.I42I|PITPNM2_ENST00000542749.1_Silent_p.I42I|PITPNM2_ENST00000451868.2_5'UTR Q9BZ72 PITM2_HUMAN phosphatidylinositol transfer protein, membrane-associated 2 42 metabolic process|transport endomembrane system|integral to membrane|intracellular membrane-bounded organelle calcium ion binding|lipid binding NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 39 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123) GGTTCTCCAGGATCTCCACGC 0.582000 6 104 0 0 1 0 0 SPEF1 25876 broad.mit.edu 37 20 3760420 3760420 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr20:3760420G>A ENST00000379756.3 - 2 272 c.112C>T c.(112-114)Ctt>Ttt p.L38F SPEF1_ENST00000463490.1_5'UTR NM_015417.4 NP_056232.2 Q9Y4P9 SPEF1_HUMAN sperm flagellar 1 38 cilium axoneme|cytoplasm|cytoskeleton cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3) 8 TCTGCAACAAGGACTGAGGGA 0.552000 14 34 0 0 1 0 0 PRDM11 56981 broad.mit.edu 37 11 45241212 45241212 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:45241212C>T ENST00000263765.4 + 7 997 c.748C>T c.(748-750)Cgg>Tgg p.R250W CTD-2560E9.3_ENST00000527450.1_RNA|PRDM11_ENST00000528980.1_3'UTR|PRDM11_ENST00000530656.1_Missense_Mutation_p.R250W|PRDM11_ENST00000424263.2_Missense_Mutation_p.R216W Q9NQV5 PRD11_HUMAN PR domain containing 11 250 SET. endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 26 CAGGGACATCCGGCCTGGGGA 0.632000 30 55 0 0 1 0 0 TRPC7 57113 broad.mit.edu 37 5 135551900 135551900 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:135551900C>T ENST00000513104.1 - 11 2689 c.2407G>A c.(2407-2409)Gaa>Aaa p.E803K TRPC7_ENST00000355180.3_Missense_Mutation_p.E742K|TRPC7_ENST00000426057.2_Missense_Mutation_p.E687K|TRPC7-AS1_ENST00000514459.1_RNA NM_020389.2 NP_065122.1 Q9HCX4 TRPC7_HUMAN transient receptor potential cation channel, subfamily C, member 7 803 axon guidance|platelet activation integral to membrane|plasma membrane calcium channel activity|protein binding NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3) 46 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) TCATTGACTTCGTCATTTTCT 0.473000 11 23 0 0 1 0 0 SRRM4 84530 broad.mit.edu 37 12 119592157 119592157 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:119592157C>T ENST00000267260.4 + 12 1889 c.1501C>T c.(1501-1503)Ccg>Tcg p.P501S NM_194286.3 NP_919262.2 A7MD48 SRRM4_HUMAN serine/arginine repetitive matrix 4 501 Arg-rich.|Ser-rich. cell differentiation|mRNA processing|nervous system development|regulation of RNA splicing|RNA splicing nucleus mRNA binding breast(2)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1) 24 GAGAGACTCCCCGAGCCACCT 0.632000 11 17 0 0 1 0 0 SYT17 51760 broad.mit.edu 37 16 19191748 19191748 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr16:19191748C>T ENST00000562034.1 + 2 3833 c.35C>T c.(34-36)tCt>tTt p.S12F SYT17_ENST00000562711.2_Missense_Mutation_p.S69F|SYT17_ENST00000568115.1_Missense_Mutation_p.S12F|SYT17_ENST00000355377.2_Missense_Mutation_p.S73F Q9BSW7 SYT17_HUMAN synaptotagmin XVII 73 membrane|synaptic vesicle transporter activity NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1) 17 GATGGTGACTCTGTCCACACG 0.592000 OREG0023658 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 39 70 0 0 1 0 0 RNF213 57674 broad.mit.edu 37 17 78363987 78363987 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:78363987C>T ENST00000582970.1 + 67 15604 c.15461C>T c.(15460-15462)cCt>cTt p.P5154L CTD-2047H16.4_ENST00000575034.1_RNA|RNF213_ENST00000427003.3_3'UTR|RNF213_ENST00000336301.6_Missense_Mutation_p.P3227L|CTD-2047H16.4_ENST00000573394.1_RNA|CTD-2047H16.4_ENST00000572151.1_RNA|RNF213_ENST00000508628.2_Missense_Mutation_p.P5203L NM_001256071.1 NP_001243000.1 Q9HCF4 ALO17_HUMAN ring finger protein 213 0 NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 130 all_neural(118;0.0538) BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057) CGCTTCCGCCCTCAGTGGAGG 0.483000 96 172 0 0 1 0 0 PCDH18 54510 broad.mit.edu 37 4 138451800 138451800 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:138451800C>T ENST00000344876.4 - 1 1829 c.1443G>A c.(1441-1443)ggG>ggA p.G481G PCDH18_ENST00000511115.1_Intron|PCDH18_ENST00000510305.1_Intron|PCDH18_ENST00000507846.1_Silent_p.G261G|PCDH18_ENST00000412923.2_Silent_p.G481G NM_019035.3 NP_061908.1 Q9HCL0 PCD18_HUMAN protocadherin 18 481 Cadherin 5. brain development|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 86 all_hematologic(180;0.24) TGATATATGCCCCTGGTGAGT 0.383000 96 142 0 0 1 0 0 CSF1R 1436 broad.mit.edu 37 5 149452924 149452924 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:149452924G>A ENST00000286301.3 - 7 1313 c.1022C>T c.(1021-1023)cCc>cTc p.P341L CSF1R_ENST00000543093.1_Intron NM_005211.3 NP_005202.2 P07333 CSF1R_HUMAN colony stimulating factor 1 receptor 341 Ig-like C2-type 4. cell proliferation|multicellular organismal development|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane|receptor complex ATP binding|cytokine binding|macrophage colony-stimulating factor receptor activity|protein homodimerization activity NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(38)|kidney(2)|large_intestine(6)|liver(3)|lung(23)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3) 93 KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147) Imatinib(DB00619)|Sunitinib(DB01268) GTCAGAAAAGGGTCCCAGGTA 0.562000 6 307 0 0 1 0 0 NPHP1 4867 broad.mit.edu 37 2 110889310 110889310 + Nonsense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:110889310G>A ENST00000316534.4 - 17 1829 c.1756C>T c.(1756-1758)Cga>Tga p.R586* NPHP1_ENST00000393272.3_Nonsense_Mutation_p.R585*|NPHP1_ENST00000445609.2_Nonsense_Mutation_p.R530*|NPHP1_ENST00000355301.4_Nonsense_Mutation_p.R467*|NPHP1_ENST00000417665.1_Nonsense_Mutation_p.R529* O15259 NPHP1_HUMAN nephronophthisis 1 (juvenile) 585 actin cytoskeleton organization|cell projection organization|cell-cell adhesion|excretion|retina development in camera-type eye|signal transduction|spermatid differentiation|visual behavior adherens junction|cell-cell junction|cilium axoneme|cytoplasm|cytoskeleton|motile cilium|photoreceptor connecting cilium protein binding|structural molecule activity autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(2) 24 AGAATTTGTCGATAAAATATC 0.358000 27 36 0 0 1 0 0 KCTD16 57528 broad.mit.edu 37 5 143586588 143586588 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:143586588G>A ENST00000507359.2 + 2 1402 c.311G>A c.(310-312)gGa>gAa p.G104E KCTD16_ENST00000512467.1_Missense_Mutation_p.G104E NM_020768.3 NP_065819.1 Q68DU8 KCD16_HUMAN potassium channel tetramerization domain containing 16 104 cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex voltage-gated potassium channel activity large_intestine(5)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1) 21 all_hematologic(541;0.118) KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176) CCAGAAAAAGGAAGACTGAAA 0.468000 31 53 0 0 1 0 0 SLCO5A1 81796 broad.mit.edu 37 8 70744698 70744698 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:70744698C>T ENST00000260126.3 - 2 917 c.211G>A c.(211-213)Gag>Aag p.E71K SLCO5A1_ENST00000528658.1_5'UTR|SLCO5A1_ENST00000524945.1_Missense_Mutation_p.E71K|SLCO5A1_ENST00000530307.1_Missense_Mutation_p.E71K NM_030958.2 NP_112220.2 Q9H2Y9 SO5A1_HUMAN solute carrier organic anion transporter family, member 5A1 71 integral to membrane|plasma membrane transporter activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 53 Breast(64;0.0654) Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594) TGCTTCAACTCCTGGTGGCCC 0.647000 OREG0018815 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 43 52 0 0 1 0 0 ATG16L1 55054 broad.mit.edu 37 2 234183408 234183408 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:234183408C>T ENST00000392017.4 + 9 1195 c.938C>T c.(937-939)aCt>aTt p.T313I ATG16L1_ENST00000498620.1_3'UTR|ATG16L1_ENST00000373525.5_Missense_Mutation_p.T169I|ATG16L1_ENST00000392020.4_Missense_Mutation_p.T294I|ATG16L1_ENST00000347464.5_Missense_Mutation_p.T150I|ATG16L1_ENST00000392018.1_Missense_Mutation_p.T330I NM_001190266.1|NM_001190267.1|NM_030803.6 NP_001177195.1|NP_001177196.1|NP_110430.5 Q676U5 A16L1_HUMAN autophagy related 16-like 1 (S. cerevisiae) 313 autophagic vacuole assembly|protein homooligomerization|protein transport autophagic vacuole|pre-autophagosomal structure membrane protein binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(7)|prostate(3)|skin(1) 25 Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0539) Epithelial(121;1.53e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000379)|LUSC - Lung squamous cell carcinoma(224;0.00619)|Lung(119;0.00732)|GBM - Glioblastoma multiforme(43;0.11) GTACCAGCTACTGCCTTGTGT 0.502000 7 84 0 0 1 0 0 NIPSNAP1 8508 broad.mit.edu 37 22 29957591 29957591 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr22:29957591G>A ENST00000216121.7 - 6 737 c.483C>T c.(481-483)tcC>tcT p.S161S NM_001202502.1|NM_003634.3 NP_001189431.1|NP_003625.2 Q9BPW8 NIPS1_HUMAN nipsnap homolog 1 (C. elegans) 161 p.?(1) large_intestine(2)|lung(2)|skin(1) 5 GGTTTCTCCTGGACAGCAGCA 0.562000 66 94 0 0 1 0 0 POU2F3 25833 broad.mit.edu 37 11 120169049 120169049 + Missense_Mutation SNP G G C TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:120169049G>C ENST00000260264.4 + 4 248 c.214G>C c.(214-216)Gcc>Ccc p.A72P POU2F3_ENST00000543440.2_Missense_Mutation_p.A70P NM_001244682.1 NP_001231611.1 Q9UKI9 PO2F3_HUMAN POU class 2 homeobox 3 70 negative regulation by host of viral transcription cytoplasm sequence-specific DNA binding large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1) 17 Breast(109;0.0011)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;6.85e-06) TCAAGGACCTGCCATGATGTC 0.522000 121 114 0 0 1 0 0 MAP3K5 4217 broad.mit.edu 37 6 137041633 137041633 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:137041633G>A ENST00000359015.4 - 2 903 c.543C>T c.(541-543)atC>atT p.I181I NM_005923.3 NP_005914.1 Q99683 M3K5_HUMAN mitogen-activated protein kinase kinase kinase 5 181 activation of JUN kinase activity|activation of MAPKK activity|cellular response to hydrogen peroxide|induction of apoptosis by extracellular signals|interspecies interaction between organisms ATP binding|caspase activator activity|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein phosphatase binding NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4) 58 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569) AGTAGAGGATGATGTTGTTGG 0.473000 45 74 0 0 1 0 0 ZNF257 113835 broad.mit.edu 37 19 22272217 22272217 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:22272217C>T ENST00000594947.1 + 4 1809 c.1665C>T c.(1663-1665)tcC>tcT p.S555S NM_033468.2 NP_258429.2 Q9Y2Q1 ZN257_HUMAN zinc finger protein 257 555 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding haematopoietic_and_lymphoid_tissue(2)|lung(4) 6 all_lung(12;0.0961)|Lung NSC(12;0.103) GTAACCATTCCTCAAACCTTA 0.353000 13 16 0 0 1 0 0 ANKEF1 63926 broad.mit.edu 37 20 10036279 10036279 + Nonsense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr20:10036279C>T ENST00000378380.3 + 10 2631 c.2302C>T c.(2302-2304)Cga>Tga p.R768* SNAP25-AS1_ENST00000603542.1_RNA|SNAP25-AS1_ENST00000421143.2_RNA|ANKEF1_ENST00000378392.1_Nonsense_Mutation_p.R768*|ANKEF1_ENST00000488991.1_3'UTR NM_198798.1 NP_942093.1 ankyrin repeat and EF-hand domain containing 1 AGAGAAAGCTCGAGCACTGGA 0.453000 21 74 0 0 1 0 0 IGKV1D-8 28904 broad.mit.edu 37 2 90260171 90260171 + RNA SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:90260171G>A ENST00000471857.1 + 0 455 ATCTGGGACAGATTTCACTCT 0.478000 11 270 0 0 1 0 0 SERPINA9 327657 broad.mit.edu 37 14 94933589 94933589 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr14:94933589C>T ENST00000337425.5 - 3 887 c.813G>A c.(811-813)gaG>gaA p.E271E SERPINA9_ENST00000424550.2_Silent_p.E122E|SERPINA9_ENST00000380365.3_Silent_p.E253E|SERPINA9_ENST00000546329.1_Silent_p.E235E|SERPINA9_ENST00000298845.7_Silent_p.E171E|SERPINA9_ENST00000448305.2_Silent_p.E173E NM_175739.3 NP_783866.2 Q86WD7 SPA9_HUMAN serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9 253 regulation of proteolysis cytoplasm|extracellular region|membrane serine-type endopeptidase inhibitor activity NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(17) 21 all_cancers(154;0.0691)|all_epithelial(191;0.233) Epithelial(152;0.144)|COAD - Colon adenocarcinoma(157;0.224)|all cancers(159;0.24) AGCAGTTCAGCTCTGTATCCA 0.522000 19 49 0 0 1 0 0 C6 729 broad.mit.edu 37 5 41176708 41176708 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:41176708G>A ENST00000263413.3 - 8 1301 c.1037C>T c.(1036-1038)cCt>cTt p.P346L C6_ENST00000475349.1_5'UTR|C6_ENST00000337836.5_Missense_Mutation_p.P346L NM_001115131.1 NP_001108603.2 P13671 CO6_HUMAN complement component 6 346 MACPF. complement activation, classical pathway|cytolysis|innate immune response membrane attack complex protein binding central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2) 96 Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157) GTATTCTAGAGGCAGATGGTT 0.408000 36 111 0 0 1 0 0 AGXT 189 broad.mit.edu 37 2 241808371 241808371 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:241808371C>T ENST00000307503.3 + 1 476 c.89C>T c.(88-90)cCt>cTt p.P30L NM_000030.2 NP_000021.1 P21549 SPYA_HUMAN alanine-glyoxylate aminotransferase 30 glyoxylate metabolic process|protein targeting to peroxisome mitochondrial matrix|peroxisomal matrix alanine-glyoxylate transaminase activity|protein homodimerization activity|pyridoxal phosphate binding|serine-pyruvate transaminase activity central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(9)|ovary(1)|prostate(1) 18 all_epithelial(40;1.61e-15)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15) Glycine(DB00145)|L-Alanine(DB00160)|L-Serine(DB00133)|Pyridoxal Phosphate(DB00114) GGGCCTGGTCCTTCCAACCTG 0.652000 6 119 0 0 1 0 0 ST18 9705 broad.mit.edu 37 8 53025832 53025832 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:53025832C>T ENST00000276480.7 - 26 3753 c.3070G>A c.(3070-3072)Gaa>Aaa p.E1024K NM_014682.2 NP_055497.1 O60284 ST18_HUMAN suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein) 1024 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 85 Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229) TAGTCCCGTTCCAGATTGCTG 0.448000 43 85 0 0 1 0 0 DSC1 1823 broad.mit.edu 37 18 28723655 28723655 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr18:28723655C>T ENST00000257197.3 - 8 1300 c.1039G>A c.(1039-1041)Gaa>Aaa p.E347K RP11-408H20.2_ENST00000581836.1_RNA|DSC1_ENST00000257198.5_Missense_Mutation_p.E347K NM_004948.3 NP_004939.1 Q08554 DSC1_HUMAN desmocollin 1 347 Cadherin 2. homophilic cell adhesion desmosome|gap junction|integral to membrane|membrane fraction calcium ion binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 53 OV - Ovarian serous cystadenocarcinoma(10;0.00778) TTGTCATTTTCATCCTCAAGT 0.338000 26 42 0 0 1 0 0 PKDCC 91461 broad.mit.edu 37 2 42284440 42284440 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:42284440C>T ENST00000294964.5 + 6 1482 c.1302C>T c.(1300-1302)ctC>ctT p.L434L PKDCC_ENST00000480099.1_3'UTR NM_138370.2 NP_612379.2 Q504Y2 PKDCC_HUMAN protein kinase domain containing, cytoplasmic 434 Protein kinase. cell differentiation|embryonic digestive tract development|lung alveolus development|negative regulation of Golgi to plasma membrane protein transport|ossification|palate development|positive regulation of bone mineralization|positive regulation of chondrocyte differentiation|protein transport Golgi apparatus ATP binding|protein kinase activity breast(2)|kidney(1)|lung(5) 8 GGAGCTGCCTCCTTTCAGTGT 0.592000 56 135 0 0 1 0 0 ACVR1C 130399 broad.mit.edu 37 2 158390483 158390483 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:158390483G>A ENST00000243349.7 - 9 1789 c.1429C>T c.(1429-1431)Cgt>Tgt p.R477C ACVR1C_ENST00000409680.3_Missense_Mutation_p.R427C|ACVR1C_ENST00000348328.5_Missense_Mutation_p.R320C|ACVR1C_ENST00000335450.7_Missense_Mutation_p.R397C NM_145259.2 NP_660302.2 Q8NER5 ACV1C_HUMAN activin A receptor, type IC 477 Protein kinase. apoptosis|cell differentiation|regulation of apoptosis activin receptor complex activin receptor activity, type I|ATP binding|transforming growth factor beta receptor activity NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 42 TTCTTAATACGAAGAGCAGTT 0.388000 38 96 0 0 1 0 0 C22orf42 150297 broad.mit.edu 37 22 32555105 32555105 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr22:32555105G>A ENST00000382097.3 - 1 170 c.98C>T c.(97-99)cCt>cTt p.P33L NM_001010859.1 NP_001010859.1 Q6IC83 CV042_HUMAN chromosome 22 open reading frame 42 33 NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(2) 24 CACAGTCTCAGGAATCTCACA 0.577000 34 126 0 0 1 0 0 CCDC170 80129 broad.mit.edu 37 6 151907142 151907142 + Missense_Mutation SNP T T G TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:151907142T>G ENST00000367290.5 + 7 1300 c.1211T>G c.(1210-1212)cTt>cGt p.L404R CCDC170_ENST00000239374.7_Missense_Mutation_p.L404R Q8IYT3 CF097_HUMAN coiled-coil domain containing 170 404 TTGGAGACTCTTCAGGGTCAG 0.483000 12 40 0 0 1 0 0 ACMSD 130013 broad.mit.edu 37 2 135621096 135621096 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:135621096G>A ENST00000356140.5 + 5 517 c.381G>A c.(379-381)aaG>aaA p.K127K AC016725.4_ENST00000392929.2_RNA|ACMSD_ENST00000392928.1_Silent_p.K69K|ACMSD_ENST00000283054.4_Silent_p.K69K NM_138326.2 NP_612199.2 Q8TDX5 ACMSD_HUMAN aminocarboxymuconate semialdehyde decarboxylase 127 quinolinate metabolic process|tryptophan catabolic process cytosol aminocarboxymuconate-semialdehyde decarboxylase activity|metal ion binding endometrium(3)|large_intestine(4)|lung(6)|skin(1) 14 BRCA - Breast invasive adenocarcinoma(221;0.115) TGGCGGTCAAGGAGATGGAGC 0.597000 15 65 0 0 1 0 0 ZBED2 79413 broad.mit.edu 37 3 111312580 111312580 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:111312580C>T ENST00000317012.4 - 2 1477 c.469G>A c.(469-471)Gaa>Aaa p.E157K CD96_ENST00000352690.4_Intron|CD96_ENST00000283285.5_Intron|CD96_ENST00000438817.2_Intron NM_024508.4 NP_078784.2 Q9BTP6 ZBED2_HUMAN zinc finger, BED-type containing 2 157 DNA binding|metal ion binding large_intestine(3)|lung(1)|skin(2) 6 ACCTCCTTTTCCCTTTGGCTG 0.627000 58 88 0 0 1 0 0 SLC9A2 6549 broad.mit.edu 37 2 103322309 103322309 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:103322309C>T ENST00000233969.2 + 11 2124 c.1982C>T c.(1981-1983)tCc>tTc p.S661F NM_003048.3 NP_003039.2 Q9UBY0 SL9A2_HUMAN solute carrier family 9, subfamily A (NHE2, cation proton antiporter 2), member 2 661 integral to membrane|plasma membrane sodium:hydrogen antiporter activity breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 42 TTACAGGCTTCCACTTCAACC 0.294000 16 40 0 0 1 0 0 F2R 2149 broad.mit.edu 37 5 76028170 76028170 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:76028170C>T ENST00000319211.4 + 2 385 c.120C>T c.(118-120)ccC>ccT p.P40P NM_001992.3 NP_001983.2 P25116 PAR1_HUMAN coagulation factor II (thrombin) receptor 40 activation of caspase activity|anatomical structure morphogenesis|connective tissue replacement involved in inflammatory response wound healing|negative regulation of cell proliferation|platelet activation|positive regulation of blood coagulation|positive regulation of cell migration|positive regulation of collagen biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JAK-STAT cascade|positive regulation of MAPKKK cascade|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of transcription, DNA-dependent|STAT protein import into nucleus|tyrosine phosphorylation of STAT protein caveola|extracellular region|Golgi apparatus|integral to plasma membrane|platelet dense tubular network receptor binding|thrombin receptor activity NS(1)|breast(1)|endometrium(3)|kidney(1)|lung(7)|ovary(3) 16 all_lung(232;0.000414)|Lung NSC(167;0.0011)|Prostate(461;0.00955)|Ovarian(174;0.0129) all cancers(79;4.43e-43) Streptokinase(DB00086) CCTTAGATCCCCGGTCATTTC 0.353000 5 109 0 0 1 0 0 SLC30A8 169026 broad.mit.edu 37 8 118169955 118169955 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:118169955C>T ENST00000427715.2 + 7 731 c.297C>T c.(295-297)atC>atT p.I99I SLC30A8_ENST00000456015.2_Silent_p.I148I|SLC30A8_ENST00000519688.1_Silent_p.I99I|SLC30A8_ENST00000521243.1_Silent_p.I99I NM_001172813.1|NM_001172815.1 NP_001166284.1|NP_001166286.1 Q8IWU4 ZNT8_HUMAN solute carrier family 30 (zinc transporter), member 8 148 insulin secretion|positive regulation of insulin secretion|regulation of sequestering of zinc ion|regulation of vesicle-mediated transport|response to glucose stimulus|sequestering of zinc ion integral to membrane|plasma membrane|secretory granule membrane|transport vesicle membrane protein homodimerization activity|zinc ion transmembrane transporter activity breast(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(18)|ovary(2)|pancreas(2)|skin(5) 41 all_cancers(13;2.11e-22)|Lung NSC(37;6.08e-05)|Ovarian(258;0.0173) STAD - Stomach adenocarcinoma(47;0.203) TGCTCTCCATCCTGTGCATCT 0.512000 19 266 0 0 1 0 0 XKR6 286046 broad.mit.edu 37 8 11058378 11058378 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:11058378C>T ENST00000416569.2 - 1 497 c.471G>A c.(469-471)ggG>ggA p.G157G XKR6_ENST00000297303.4_Silent_p.G157G NM_173683.3 NP_775954.2 Q5GH73 XKR6_HUMAN XK, Kell blood group complex subunit-related family, member 6 157 integral to membrane breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(8)|ovary(2)|prostate(1)|skin(3) 31 Lung(29;0.0407)|COAD - Colon adenocarcinoma(149;0.0555) AGACGTAGTCCCCCTTGCGGT 0.657000 36 103 0 0 1 0 0 GRIP1 23426 broad.mit.edu 37 12 66786570 66786570 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:66786570C>T ENST00000359742.4 - 18 2396 c.2156G>A c.(2155-2157)cGa>cAa p.R719Q GRIP1_ENST00000398016.3_Missense_Mutation_p.R667Q|GRIP1_ENST00000286445.7_Missense_Mutation_p.R719Q Q9Y3R0 GRIP1_HUMAN glutamate receptor interacting protein 1 719 PDZ 6. androgen receptor signaling pathway|intracellular signal transduction|positive regulation of transcription, DNA-dependent|synaptic transmission cell junction|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|postsynaptic membrane androgen receptor binding|beta-catenin binding|protein C-terminus binding|receptor signaling complex scaffold activity|transcription coactivator activity NS(3)|breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(19)|ovary(2)|prostate(2)|skin(1) 50 GBM - Glioblastoma multiforme(2;0.00069) GBM - Glioblastoma multiforme(28;0.0933) GGCTAGGATTCGGTCTCCTAT 0.428000 44 151 0 0 1 0 0 SLC2A6 11182 broad.mit.edu 37 9 136341383 136341383 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:136341383C>T ENST00000371899.4 - 4 615 c.538G>A c.(538-540)Gga>Aga p.G180R SLC2A6_ENST00000485978.1_5'UTR|SLC2A6_ENST00000371897.4_Missense_Mutation_p.G180R NM_017585.3 NP_060055.2 Q9UGQ3 GTR6_HUMAN solute carrier family 2 (facilitated glucose transporter), member 6 180 integral to membrane|plasma membrane D-glucose transmembrane transporter activity cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(3)|skin(1) 10 OV - Ovarian serous cystadenocarcinoma(145;8.47e-08)|Epithelial(140;9.37e-07)|all cancers(34;1.03e-05) GACAGGGATCCGAACACTGCC 0.652000 18 63 0 0 1 0 0 XKR5 389610 broad.mit.edu 37 8 6682784 6682784 + RNA SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:6682784C>T ENST00000518724.1 - 0 480 Q6UX68 XKR5_HUMAN XK, Kell blood group complex subunit-related family, member 5 integral to membrane endometrium(1)|large_intestine(1)|lung(1) 3 STAD - Stomach adenocarcinoma(24;0.0984) READ - Rectum adenocarcinoma(644;0.137)|COAD - Colon adenocarcinoma(149;0.166) GTCGAAGGGCCGACAGGTCGG 0.602000 19 26 0 0 1 0 0 ESYT3 83850 broad.mit.edu 37 3 138191562 138191562 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:138191562C>T ENST00000389567.4 + 18 2284 c.2098C>T c.(2098-2100)Ccc>Tcc p.P700S NM_031913.3 NP_114119.2 A0FGR9 ESYT3_HUMAN extended synaptotagmin-like protein 3 700 integral to membrane|plasma membrane breast(1)|endometrium(5)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(1) 25 CTCTCCAGGGCCCATCAAGTC 0.597000 56 130 0 0 1 0 0 ADAM28 10863 broad.mit.edu 37 8 24207383 24207383 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:24207383C>T ENST00000265769.4 + 19 2107 c.1997C>T c.(1996-1998)tCc>tTc p.S666F RP11-624C23.1_ENST00000519689.1_RNA|ADAM28_ENST00000397649.3_Silent_p.L414L|RP11-624C23.1_ENST00000523700.1_RNA|RP11-624C23.1_ENST00000518988.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA NM_014265.4 NP_055080.2 Q9UKQ2 ADA28_HUMAN ADAM metallopeptidase domain 28 666 proteolysis|spermatogenesis extracellular region|integral to membrane|plasma membrane metalloendopeptidase activity|zinc ion binding central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 Prostate(55;0.0959) Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175) GCAGACTTCTCCATTGTGGTT 0.498000 9 164 0 0 1 0 0 HES4 57801 broad.mit.edu 37 1 934770 934770 + Missense_Mutation SNP G G C TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:934770G>C ENST00000428771.2 - 3 611 c.413C>G c.(412-414)gCc>gGc p.A138G HES4_ENST00000304952.6_Missense_Mutation_p.A112G|HES4_ENST00000484667.2_Missense_Mutation_p.A80G NM_001142467.1|NM_021170.3 NP_001135939.1|NP_066993.1 Q9HCC6 HES4_HUMAN hes family bHLH transcription factor 4 112 Orange. cell differentiation|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding lung(2) 2 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217) UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;9.36e-38)|OV - Ovarian serous cystadenocarcinoma(86;4.41e-23)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00237)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199) GTGGAAGCCGGCGCGGTACTT 0.761000 3 8 0 0 1 0 0 PROKR2 128674 broad.mit.edu 37 20 5283195 5283195 + Nonsense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr20:5283195G>A ENST00000546004.1 - 3 892 c.646C>T c.(646-648)Cag>Tag p.Q216* PROKR2_ENST00000217270.3_Nonsense_Mutation_p.Q216* Q8NFJ6 PKR2_HUMAN prokineticin receptor 2 216 integral to membrane|plasma membrane neuropeptide Y receptor activity autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4) 53 TAGAGCTGCTGATCCACAGGC 0.522000 HNSCC(71;0.22) 75 117 0 0 1 0 0 PLEC 5339 broad.mit.edu 37 8 144997980 144997980 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:144997980G>A ENST00000322810.4 - 31 6697 c.6528C>T c.(6526-6528)gcC>gcT p.A2176A PLEC_ENST00000356346.3_Silent_p.A2025A|PLEC_ENST00000354589.3_Silent_p.A2039A|PLEC_ENST00000398774.2_Silent_p.A2007A|PLEC_ENST00000527096.1_Silent_p.A2062A|PLEC_ENST00000436759.2_Silent_p.A2066A|PLEC_ENST00000354958.2_Silent_p.A2017A|PLEC_ENST00000345136.3_Silent_p.A2039A|PLEC_ENST00000357649.2_Silent_p.A2043A NM_201380.2 NP_958782.1 Q15149 PLEC_HUMAN plectin 2176 Central fibrous rod domain. cellular component disassembly involved in apoptosis|hemidesmosome assembly cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma actin binding|structural constituent of muscle NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10) 137 CGGCCTCCTGGGCCAGCTGCA 0.706000 6 19 0 0 1 0 0 ZAN 7455 broad.mit.edu 37 7 100350515 100350515 + RNA SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:100350515C>T ENST00000542585.1 + 0 2935 ZAN_ENST00000538115.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000546292.1_RNA NM_003386.1 NP_003377.1 Q9Y493 ZAN_HUMAN zonadhesin (gene/pseudogene) binding of sperm to zona pellucida|cell-cell adhesion integral to membrane|plasma membrane NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3) 139 Lung NSC(181;0.041)|all_lung(186;0.0581) STAD - Stomach adenocarcinoma(171;0.19) AACCCACCATCCCCACTGAAG 0.502000 81 277 0 0 1 0 0 ADARB2 105 broad.mit.edu 37 10 1279764 1279764 + Missense_Mutation SNP C C T rs139936295 TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:1279764C>T ENST00000381312.1 - 6 1710 c.1385G>A c.(1384-1386)cGa>cAa p.R462Q ADARB2_ENST00000469464.1_5'UTR NM_018702.3 NP_061172.1 Q9NS39 RED2_HUMAN adenosine deaminase, RNA-specific, B2 (non-functional) 462 A to I editase. mRNA processing mitochondrion|nucleus adenosine deaminase activity|double-stranded RNA binding|metal ion binding|single-stranded RNA binding breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1) 41 all_epithelial(10;0.059)|Colorectal(49;0.0815) all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165) GAATATCGATCGCTCTGAGTC 0.527000 49 92 0 0 1 0 0 MX1 4599 broad.mit.edu 37 21 42808946 42808946 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr21:42808946C>T ENST00000398600.2 + 9 1328 c.303C>T c.(301-303)atC>atT p.I101I MX1_ENST00000288383.6_Silent_p.I78I|MX1_ENST00000455164.2_Silent_p.I101I|MX1_ENST00000398598.3_Silent_p.I101I NM_001144925.1 NP_001138397.1 P20591 MX1_HUMAN myxovirus (influenza virus) resistance 1, interferon-inducible protein p78 (mouse) 101 induction of apoptosis|response to virus|type I interferon-mediated signaling pathway cytosol GTP binding|GTPase activity|protein binding breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 27 Prostate(19;3.18e-07)|all_epithelial(19;0.0277) TCCTAGGGATCGTGACCAGAT 0.478000 17 51 0 0 1 0 0 RALGAPA2 57186 broad.mit.edu 37 20 20505537 20505537 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr20:20505537G>A ENST00000202677.6 - 29 3841 c.3699C>T c.(3697-3699)ctC>ctT p.L1233L NM_020343.3 NP_065076.2 Q2PPJ7 RGPA2_HUMAN Ral GTPase activating protein, alpha subunit 2 (catalytic) 1233 activation of Ral GTPase activity cytosol|nucleus protein heterodimerization activity|Ral GTPase activator activity endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 54 CTGTGGCCACGAGGATCTGCA 0.418000 7 9 0 0 1 0 0 KLF11 8462 broad.mit.edu 37 2 10188320 10188320 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:10188320C>T ENST00000535335.1 + 3 1021 c.805C>T c.(805-807)Ctt>Ttt p.L269F KLF11_ENST00000305883.1_Missense_Mutation_p.L286F|KLF11_ENST00000540845.1_Missense_Mutation_p.L269F NM_001177718.1 NP_001171189.1 O14901 KLF11_HUMAN Kruppel-like factor 11 286 apoptosis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|regulation of transcription involved in S phase of mitotic cell cycle nucleus sequence-specific DNA binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 16 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.133)|OV - Ovarian serous cystadenocarcinoma(76;0.228) TCCCCCTGTCCTTTGCCAGAT 0.522000 OREG0014425 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 51 86 0 0 1 0 0 HELZ 9931 broad.mit.edu 37 17 65105630 65105630 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:65105630G>A ENST00000358691.5 - 29 4257 c.4091C>T c.(4090-4092)cCc>cTc p.P1364L HELZ_ENST00000580168.1_Missense_Mutation_p.P1365L NM_014877.3 NP_055692.2 helicase with zinc finger NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13) TGGTAGCTGGGGAAGGGGATG 0.473000 4 161 0 0 1 0 0 ZNF829 374899 broad.mit.edu 37 19 37399357 37399357 + Missense_Mutation SNP G G A rs76856236 by1000genomes TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:37399357G>A ENST00000520965.1 - 4 410 c.344C>T c.(343-345)cCg>cTg p.P115L ZNF829_ENST00000391711.3_Missense_Mutation_p.P34L|ZNF345_ENST00000432005.2_Intron NM_001171979.1 NP_001165450.1 Q3KNS6 ZN829_HUMAN zinc finger protein 829 34 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|kidney(1)|large_intestine(11)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 29 Esophageal squamous(110;0.183) COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) GAACATCACCGGCCCCTGAAA 0.428000 35 87 0 0 1 0 0 ANXA10 11199 broad.mit.edu 37 4 169086426 169086426 + Silent SNP T T A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:169086426T>A ENST00000359299.3 + 6 615 c.429T>A c.(427-429)atT>atA p.I143I NM_007193.4 NP_009124.2 Q9UJ72 ANX10_HUMAN annexin A10 143 calcium ion binding|calcium-dependent phospholipid binding endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(2) 16 Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132) GBM - Glioblastoma multiforme(119;0.0325) AAGAGGACATTTATTCAGAGA 0.333000 36 61 0 0 1 0 0 LPPR1 54886 broad.mit.edu 37 9 104048431 104048431 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:104048431G>A ENST00000374874.3 + 4 737 c.298G>A c.(298-300)Gaa>Aaa p.E100K LPPR1_ENST00000395056.2_Missense_Mutation_p.E100K NM_207299.1 NP_997182.1 Q8TBJ4 LPPR1_HUMAN 100 integral to membrane catalytic activity ATCAACAAGAGAATCCCTGAT 0.378000 5 123 0 0 1 0 0 SLC24A3 57419 broad.mit.edu 37 20 19677466 19677466 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr20:19677466G>A ENST00000328041.6 + 14 1714 c.1517G>A c.(1516-1518)gGg>gAg p.G506E NM_020689.3 NP_065740.2 Q9HC58 NCKX3_HUMAN solute carrier family 24 (sodium/potassium/calcium exchanger), member 3 506 integral to membrane|plasma membrane calcium, potassium:sodium antiporter activity|symporter activity breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 TACACCCTGGGGATTCCTGAC 0.572000 15 58 0 0 1 0 0 ZSWIM5 57643 broad.mit.edu 37 1 45516916 45516916 + Nonsense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:45516916C>T ENST00000359600.5 - 5 1467 c.1262G>A c.(1261-1263)tGg>tAg p.W421* NM_020883.1 NP_065934.1 Q9P217 ZSWM5_HUMAN zinc finger, SWIM-type containing 5 421 zinc ion binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|liver(1)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 28 Acute lymphoblastic leukemia(166;0.155) TATGCACACCCATAAAGCCCC 0.443000 29 71 0 0 1 0 0 C1orf158 93190 broad.mit.edu 37 1 12820721 12820721 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:12820721G>A ENST00000288048.5 + 4 638 c.422G>A c.(421-423)gGa>gAa p.G141E C1orf158_ENST00000376210.3_Missense_Mutation_p.G103E NM_152290.2 NP_689503.2 Q8N1D5 CA158_HUMAN chromosome 1 open reading frame 158 141 central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(1)|ovary(1)|skin(2)|urinary_tract(3) 10 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.06e-06)|COAD - Colon adenocarcinoma(227;0.000273)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00575)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649) ACAAACTATGGACTCTATGAG 0.537000 31 112 0 0 1 0 0 PROKR2 128674 broad.mit.edu 37 20 5283319 5283319 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr20:5283319G>A ENST00000546004.1 - 3 768 c.522C>T c.(520-522)atC>atT p.I174I PROKR2_ENST00000217270.3_Silent_p.I174I Q8NFJ6 PKR2_HUMAN prokineticin receptor 2 174 integral to membrane|plasma membrane neuropeptide Y receptor activity p.I174I(1) autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4) 53 AGACCAAGGCGATCAGGAAGG 0.488000 HNSCC(71;0.22) 52 180 0 0 1 0 0 POTEA 340441 broad.mit.edu 37 8 43216289 43216289 + RNA SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:43216289G>A ENST00000522175.2 + 0 1542 Q6S8J7 POTEA_HUMAN POTE ankyrin domain family, member A breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(27)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 46 AGAAGTGGCCGAAAAAAAAAT 0.284000 5 6 0 0 1 0 0 TRBV5-5 28610 broad.mit.edu 37 7 142149034 142149034 + RNA SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:142149034G>A ENST00000390372.3 - 0 243 ATCGATCAGGGAAGTTTCCTC 0.522000 55 171 0 0 1 0 0 SNX31 169166 broad.mit.edu 37 8 101629944 101629944 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:101629944G>A ENST00000311812.2 - 5 486 c.336C>T c.(334-336)atC>atT p.I112I SNX31_ENST00000428383.2_Silent_p.I13I NM_152628.3 NP_689841.3 Q8N9S9 SNX31_HUMAN sorting nexin 31 112 cell communication|protein transport phosphatidylinositol binding NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|skin(3)|urinary_tract(1) 26 all_cancers(14;4.01e-05)|all_epithelial(15;1.26e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125) Epithelial(11;1.21e-11)|all cancers(13;2.62e-09)|OV - Ovarian serous cystadenocarcinoma(57;3.22e-06)|STAD - Stomach adenocarcinoma(118;0.206) TCTTGGTGGCGATGTCAAATG 0.383000 43 81 0 0 1 0 0 SLC35F3 148641 broad.mit.edu 37 1 234367362 234367362 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:234367362G>A ENST00000366618.3 + 3 628 c.483G>A c.(481-483)agG>agA p.R161R SLC35F3_ENST00000366617.3_Silent_p.R92R NM_173508.2 NP_775779.1 Q8IY50 S35F3_HUMAN solute carrier family 35, member F3 92 transport integral to membrane breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|urinary_tract(1) 32 Ovarian(103;0.0454) all_cancers(173;0.145)|Prostate(94;0.0885) OV - Ovarian serous cystadenocarcinoma(106;0.00531) TGACCTTCAGGAAGTTCGACG 0.602000 92 278 0 0 1 0 0 HLF 3131 broad.mit.edu 37 17 53345395 53345395 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:53345395C>T ENST00000226067.5 + 2 872 c.399C>T c.(397-399)ccC>ccT p.P133P HLF_ENST00000430986.2_Silent_p.P48P|HLF_ENST00000573945.1_Silent_p.P48P|HLF_ENST00000575345.1_Silent_p.P48P NM_002126.4 NP_002117.1 Q16534 HLF_HUMAN hepatic leukemia factor 133 multicellular organismal development|rhythmic process|transcription from RNA polymerase II promoter nucleus double-stranded DNA binding|protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity large_intestine(1)|ovary(2) 3 CCTCTGCACCCCTTCACCCTG 0.622000 T TCF3 ALL 63 133 0 0 1 0 0 PAPPA2 60676 broad.mit.edu 37 1 176760613 176760613 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:176760613G>A ENST00000367662.3 + 19 6179 c.5015G>A c.(5014-5016)gGg>gAg p.G1672E NM_020318.2 NP_064714.2 Q9BXP8 PAPP2_HUMAN pappalysin 2 1672 Sushi 5. cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1) 226 CAAGGATATGGGATTGGTAAG 0.378000 47 47 0 0 1 0 0 KIF24 347240 broad.mit.edu 37 9 34257854 34257854 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:34257854G>A ENST00000379166.2 - 11 1870 c.1751C>T c.(1750-1752)tCt>tTt p.S584F KIF24_ENST00000379174.3_Missense_Mutation_p.S450F|KIF24_ENST00000345050.2_Missense_Mutation_p.S450F|KIF24_ENST00000402558.2_Missense_Mutation_p.S584F NM_194313.2 NP_919289.2 Q5T7B8 KIF24_HUMAN kinesin family member 24 584 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(13)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 32 LUSC - Lung squamous cell carcinoma(29;0.0107) TTTTTTGGGAGAACATTTGTC 0.522000 8 102 0 0 1 0 0 OR8S1 341568 broad.mit.edu 37 12 48920040 48920040 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:48920040G>A ENST00000310194.1 + 1 626 c.626G>A c.(625-627)gGa>gAa p.G209E OR8S1_ENST00000551654.1_Intron NM_001005203.2 NP_001005203.2 Q8NH09 OR8S1_HUMAN olfactory receptor, family 8, subfamily S, member 1 209 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|skin(4) 22 CATGGGCTGGGAAACTTCCTT 0.522000 30 60 0 0 1 0 0 EVPL 2125 broad.mit.edu 37 17 74006511 74006511 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:74006511C>T ENST00000301607.3 - 22 3028 c.2775G>A c.(2773-2775)agG>agA p.R925R EVPL_ENST00000586740.1_Silent_p.R947R NM_001988.2 NP_001979.2 Q92817 EVPL_HUMAN envoplakin 925 Central fibrous rod domain. keratinization|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural molecule activity breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4) 54 CCACCCGCTTCCTCTCCTCTT 0.647000 45 93 0 0 1 0 0 ADAMTS9 56999 broad.mit.edu 37 3 64601750 64601750 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:64601750C>T ENST00000498707.1 - 20 3252 c.2910G>A c.(2908-2910)ggG>ggA p.G970G ADAMTS9_ENST00000295903.4_Silent_p.G942G NM_182920.1 NP_891550.1 Q9P2N4 ATS9_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 9 970 TSP type-1 3. glycoprotein catabolic process|multicellular organismal development|proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 100 Lung NSC(201;0.00682) BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221) TCTCAGTCTTCCCATCCAGCC 0.507000 119 292 0 0 1 0 0 C1orf173 127254 broad.mit.edu 37 1 75038033 75038033 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:75038033C>T ENST00000326665.5 - 14 3579 c.3361G>A c.(3361-3363)Gaa>Aaa p.E1121K C1orf173_ENST00000433746.2_5'UTR NM_001002912.4 NP_001002912.4 Q5RHP9 CA173_HUMAN chromosome 1 open reading frame 173 1121 Glu-rich. NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5) 184 GATCCCATTTCATTTGGGGGA 0.448000 49 83 0 0 1 0 0 ARHGAP39 80728 broad.mit.edu 37 8 145756208 145756208 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:145756208G>A ENST00000276826.5 - 9 3136 c.2935C>T c.(2935-2937)Ccg>Tcg p.P979S ARHGAP39_ENST00000377307.2_Missense_Mutation_p.P1010S|ARHGAP39_ENST00000540274.1_Missense_Mutation_p.P979S Q9C0H5 RHG39_HUMAN Rho GTPase activating protein 39 979 Rho-GAP. axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytoskeleton|cytosol|nucleus GTPase activator activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 22 AACTCGTGCGGGATCAGGGGC 0.711000 11 34 0 0 1 0 0 DOK1 1796 broad.mit.edu 37 2 74783701 74783701 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:74783701C>T ENST00000233668.5 + 5 1575 c.906C>T c.(904-906)tcC>tcT p.S302S DOK1_ENST00000340004.6_3'UTR|DOK1_ENST00000409429.1_Silent_p.S163S|DOK1_ENST00000480318.1_3'UTR NM_001381.3 NP_001372.1 Q99704 DOK1_HUMAN docking protein 1, 62kDa (downstream of tyrosine kinase 1) 302 Pro-rich. fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway cytosol|perinuclear region of cytoplasm insulin receptor binding endometrium(3)|large_intestine(2)|liver(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 16 CCTTAGACTCCCTGCGCATTG 0.612000 40 137 0 0 1 0 0 CDCA5 113130 broad.mit.edu 37 11 64847030 64847030 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:64847030G>A ENST00000275517.3 - 5 645 c.473C>T c.(472-474)tCc>tTc p.S158F CDCA5_ENST00000404147.3_Missense_Mutation_p.S158F NM_080668.3 NP_542399.1 Q96FF9 CDCA5_HUMAN cell division cycle associated 5 158 cell division|double-strand break repair|G1/S transition of mitotic cell cycle|mitotic chromosome condensation|mitotic metaphase plate congression|mitotic sister chromatid cohesion|regulation of cohesin localization to chromatin cytoplasm|nuclear chromatin|plasma membrane chromatin binding|identical protein binding large_intestine(1)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 7 GCCTGGGGTGGAGGTAGAGGC 0.617000 24 44 0 0 1 0 0 PLCB1 23236 broad.mit.edu 37 20 8707983 8707983 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr20:8707983C>T ENST00000378641.3 + 17 2181 c.1706C>T c.(1705-1707)tCc>tTc p.S569F PLCB1_ENST00000378637.2_Missense_Mutation_p.S569F|PLCB1_ENST00000494924.1_3'UTR|PLCB1_ENST00000338037.6_Missense_Mutation_p.S569F NM_182734.1 NP_877398.1 Q9NQ66 PLCB1_HUMAN phospholipase C, beta 1 (phosphoinositide-specific) 569 PI-PLC Y-box. activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission cytosol|nuclear chromatin|nuclear speck calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4) 95 GAAATGTCTTCCTTCGTGGAA 0.343000 21 42 0 0 1 0 0 MXRA5 25878 broad.mit.edu 37 X 3228717 3228717 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chrX:3228717C>T ENST00000217939.6 - 7 7681 c.7527G>A c.(7525-7527)agG>agA p.R2509R NM_015419.3 NP_056234.2 Q9NR99 MXRA5_HUMAN matrix-remodelling associated 5 2509 Ig-like C2-type 9. extracellular region NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2) 157 all_lung(23;0.00031)|Lung NSC(23;0.000946) AGTCGCTCTTCCTCAAACTCC 0.572000 7 1 0 0 1 0 0 CALM3 808 broad.mit.edu 37 19 47111768 47111768 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:47111768C>T ENST00000291295.9 + 4 407 c.208C>T c.(208-210)Ctg>Ttg p.L70L CALM3_ENST00000599839.1_Silent_p.L34L|CALM3_ENST00000594523.1_Silent_p.L34L|CALM3_ENST00000597743.1_Intron|CALM3_ENST00000391918.2_Silent_p.L34L|CALM3_ENST00000477244.1_3'UTR|CALM3_ENST00000598871.1_Silent_p.L34L|CALM3_ENST00000596362.1_Silent_p.L70L NM_005184.2 NP_005175.2 P62158 CALM_HUMAN calmodulin 3 (phosphorylase kinase, delta) 70 EF-hand 2. activation of phospholipase C activity|G-protein coupled receptor protein signaling pathway|glucose metabolic process|glycogen catabolic process|muscle contraction|negative regulation of ryanodine-sensitive calcium-release channel activity|nerve growth factor receptor signaling pathway|nitric oxide metabolic process|platelet activation|platelet degranulation|positive regulation of ryanodine-sensitive calcium-release channel activity|regulation of cytokinesis|regulation of nitric-oxide synthase activity|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to calcium ion|synaptic transmission centrosome|cytosol|extracellular region|nucleoplasm|plasma membrane|spindle microtubule|spindle pole calcium ion binding|N-terminal myristoylation domain binding|phospholipase binding|protein domain specific binding|thioesterase binding|titin binding breast(1)|cervix(2)|endometrium(1)|lung(1)|ovary(1) 6 Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212) OV - Ovarian serous cystadenocarcinoma(262;0.000338)|all cancers(93;0.000683)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0341) Aprindine(DB01429)|Bepridil(DB01244)|Dibucaine(DB00527)|Felodipine(DB01023)|Flunarizine(DB04841)|Fluphenazine(DB00623)|Isoflurane(DB00753)|Loperamide(DB00836)|Miconazole(DB01110)|Perphenazine(DB00850)|Phenoxybenzamine(DB00925)|Pimozide(DB01100)|Promethazine(DB01069) CCCGGAGTTCCTGACCATGAT 0.582000 8 109 0 0 1 0 0 SEBOX 645832 broad.mit.edu 37 17 26691530 26691530 + Silent SNP T T C TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:26691530T>C ENST00000536498.1 - 10 1805 c.408A>G c.(406-408)caA>caG p.Q136Q SARM1_ENST00000379061.4_Intron|SEBOX_ENST00000431468.1_Silent_p.Q137Q|SEBOX_ENST00000438614.1_Silent_p.Q136Q|TMEM199_ENST00000509083.1_Intron|CTB-96E2.3_ENST00000591482.1_RNA Q9HB31 SEBOX_HUMAN SEBOX homeobox 137 cell differentiation|multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(2)|large_intestine(1)|lung(1)|skin(1) 5 all_lung(13;0.000354)|Lung NSC(42;0.00115) UCEC - Uterine corpus endometrioid carcinoma (53;0.153) AGGGTGGAGGTTGGCCTGGCA 0.622000 13 52 0 0 1 0 0 TRBC2 28638 broad.mit.edu 37 7 142499093 142499093 + RNA SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:142499093G>A ENST00000466254.1 + 0 369 CGTCAGCGCCGAGGCCTGGGG 0.597000 28 246 0 0 1 0 0 TEX10 54881 broad.mit.edu 37 9 103111612 103111612 + Nonsense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:103111612G>A ENST00000374902.4 - 2 210 c.34C>T c.(34-36)Caa>Taa p.Q12* TEX10_ENST00000535814.1_Nonsense_Mutation_p.Q15*|TEX10_ENST00000537512.1_Intron NM_017746.3 NP_060216.2 Q9NXF1 TEX10_HUMAN testis expressed 10 12 integral to membrane|MLL1 complex|nuclear membrane|nucleolus binding NS(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2) 38 Acute lymphoblastic leukemia(62;0.0527) OV - Ovarian serous cystadenocarcinoma(323;0.157) TTTACTTTTTGAAAATCATGT 0.289000 14 30 0 0 1 0 0 C10orf71 118461 broad.mit.edu 37 10 50531263 50531263 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:50531263C>T ENST00000374144.3 + 3 961 c.673C>T c.(673-675)Cca>Tca p.P225S C10orf71_ENST00000323868.4_Missense_Mutation_p.P225S Q711Q0 CJ071_HUMAN chromosome 10 open reading frame 71 225 endometrium(1) 1 CTCCAAGAATCCAGAAATGGC 0.562000 19 25 0 0 1 0 0 ZAR1 326340 broad.mit.edu 37 4 48492800 48492800 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:48492800C>T ENST00000327939.4 + 1 532 c.492C>T c.(490-492)agC>agT p.S164S NM_175619.1 NP_783318.1 Q86SH2 ZAR1_HUMAN zygote arrest 1 164 multicellular organismal development cytoplasm|membrane bile acid:sodium symporter activity endometrium(1)|large_intestine(4) 5 AGCAGGGCAGCCCCCAGAACG 0.776000 7 11 0 0 1 0 0 PLXND1 23129 broad.mit.edu 37 3 129292561 129292561 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:129292561C>T ENST00000393239.1 - 13 2891 c.2713G>A c.(2713-2715)Ggt>Agt p.G905S PLXND1_ENST00000324093.4_Missense_Mutation_p.G905S Q9Y4D7 PLXD1_HUMAN plexin D1 905 IPT/TIG 1. axon guidance integral to membrane|intracellular|plasma membrane PLXND1/TMCC1(4) NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 72 AGGGTCCCACCGTCCAACGGG 0.662000 10 28 0 0 1 0 0 IGLV5-48 28780 broad.mit.edu 37 22 22707495 22707495 + RNA SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr22:22707495C>T ENST00000390293.1 + 0 83 CAGCCAACTTCCCTCTCAGCA 0.483000 50 155 0 0 1 0 0 OPRK1 4986 broad.mit.edu 37 8 54147548 54147548 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:54147548C>T ENST00000265572.3 - 3 678 c.381G>A c.(379-381)ggG>ggA p.G127G RP11-162D9.3_ENST00000524425.1_RNA|OPRK1_ENST00000520287.1_Silent_p.G127G|OPRK1_ENST00000524278.1_Silent_p.G38G NM_000912.3 NP_000903.2 P41145 OPRK_HUMAN opioid receptor, kappa 1 127 behavior|immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception|synaptic transmission|viral genome replication integral to plasma membrane kappa-opioid receptor activity|protein binding NS(2)|breast(3)|endometrium(3)|kidney(12)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1) 43 all_epithelial(80;0.066)|Lung NSC(129;0.0804)|all_lung(136;0.136) Buprenorphine(DB00921)|Butorphanol(DB00611)|Cocaine(DB00907)|Codeine(DB00318)|Dezocine(DB01209)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Meperidine(DB00454)|Mirtazapine(DB00370)|Morphine(DB00295)|Nalbuphine(DB00844)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Tramadol(DB00193) ACAGCACATCCCCAAAAGGCC 0.438000 46 76 0 0 1 0 0 WDR26 80232 broad.mit.edu 37 1 224585815 224585815 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:224585815G>A ENST00000414423.2 - 12 1951 c.1758C>T c.(1756-1758)atC>atT p.I586I WDR26_ENST00000366852.2_3'UTR|WDR26_ENST00000479727.1_5'UTR|WDR26_ENST00000295024.6_Silent_p.I439I NM_001115113.2|NM_025160.6 NP_001108585.2|NP_079436.4 Q9H7D7 WDR26_HUMAN WD repeat domain 26 586 cytoplasm|nucleus biliary_tract(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6) 18 GBM - Glioblastoma multiforme(131;0.0104) TGCCACTAGCGATGAAGTCTT 0.358000 36 46 0 0 1 0 0 TDRD6 221400 broad.mit.edu 37 6 46660763 46660763 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:46660763C>T ENST00000544460.1 + 1 5152 c.4898C>T c.(4897-4899)cCa>cTa p.P1633L TDRD6_ENST00000316081.6_Missense_Mutation_p.P1633L NM_001168359.1 NP_001161831.1 O60522 TDRD6_HUMAN tudor domain containing 6 1633 cell differentiation|multicellular organismal development|spermatogenesis chromatoid body nucleic acid binding NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 80 Lung(136;0.192) CAAGCCTTTCCATGTTGCCTC 0.418000 53 148 0 0 1 0 0 DIO3 1735 broad.mit.edu 37 14 102028191 102028191 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr14:102028191G>A ENST00000510508.4 + 1 504 c.358G>A c.(358-360)Ggc>Agc p.G120S DIO3_ENST00000359323.3_Missense_Mutation_p.G94S P55073 IOD3_HUMAN deiodinase, iodothyronine, type III 94 cellular nitrogen compound metabolic process|hormone biosynthetic process endosome membrane|integral to membrane|plasma membrane thyroxine 5'-deiodinase activity|thyroxine 5-deiodinase activity central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(3)|skin(1) 22 all_neural(303;0.185) GGTGTGGCATGGCCAGAAGTT 0.652000 49 115 0 0 1 0 0 OR10H3 26532 broad.mit.edu 37 19 15852663 15852663 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:15852663C>T ENST00000305892.1 + 1 461 c.461C>T c.(460-462)tCg>tTg p.S154L NM_013938.1 NP_039226.1 O60404 O10H3_HUMAN olfactory receptor, family 10, subfamily H, member 3 154 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(2)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 17 GCTGGTGGCTCGGTCATGGGG 0.507000 51 81 0 0 1 0 0 MYO5B 4645 broad.mit.edu 37 18 47463768 47463768 + Splice_Site SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr18:47463768C>T ENST00000285039.7 - 15 2052 c.e15-1 NM_001080467.2 NP_001073936.1 Q9ULV0 MYO5B_HUMAN myosin VB protein transport myosin complex actin binding|ATP binding|calmodulin binding|motor activity NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4) 87 READ - Rectum adenocarcinoma(32;0.103) CTAGTGGGAACTAGAAACAAT 0.473000 19 58 0 0 1 0 0 RNF40 9810 broad.mit.edu 37 16 30776802 30776802 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr16:30776802C>T ENST00000324685.6 + 8 1410 c.975C>T c.(973-975)atC>atT p.I325I RNF40_ENST00000402121.3_Intron|RNF40_ENST00000563683.1_Silent_p.I325I|RNF40_ENST00000357890.5_Silent_p.I325I NM_001207033.1|NM_014771.3 NP_001193962.1|NP_055586.1 O75150 BRE1B_HUMAN ring finger protein 40, E3 ubiquitin protein ligase 325 histone H2B ubiquitination|histone monoubiquitination|ubiquitin-dependent protein catabolic process nucleus|synaptosome|ubiquitin ligase complex protein homodimerization activity|ubiquitin protein ligase binding|zinc ion binding central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(10)|prostate(2) 30 Colorectal(24;0.198) GGGGCCAGATCACACTCAGCA 0.527000 21 48 0 0 1 0 0 SCN4A 6329 broad.mit.edu 37 17 62018986 62018986 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:62018986G>A ENST00000578147.1 - 24 4732 c.4656C>T c.(4654-4656)gaC>gaT p.D1552D SCN4A_ENST00000435607.1_Silent_p.D1552D P35499 SCN4A_HUMAN sodium channel, voltage-gated, type IV, alpha subunit 1552 muscle contraction voltage-gated sodium channel complex voltage-gated sodium channel activity breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 101 Lamotrigine(DB00555) TGGGGTCACAGTCTGGGGGCC 0.607000 24 63 0 0 1 0 0 ZNF416 55659 broad.mit.edu 37 19 58084706 58084706 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:58084706G>A ENST00000196489.3 - 4 788 c.566C>T c.(565-567)cCg>cTg p.P189L NM_017879.1 NP_060349.1 Q9BWM5 ZN416_HUMAN zinc finger protein 416 189 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(3)|large_intestine(5)|lung(12)|prostate(1) 22 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0259) AATAGCTTGCGGCTGAAGAAT 0.478000 49 85 0 0 1 0 0 FSHR 2492 broad.mit.edu 37 2 49189957 49189957 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:49189957C>T ENST00000406846.2 - 10 2122 c.2003G>A c.(2002-2004)aGg>aAg p.R668K FSHR_ENST00000304421.4_Missense_Mutation_p.R642K|FSHR_ENST00000346173.3_Missense_Mutation_p.R606K|FSHR_ENST00000541117.1_Missense_Mutation_p.R404K NM_000145.3 NP_000136.2 P23945 FSHR_HUMAN follicle stimulating hormone receptor 668 female gamete generation|male gonad development|spermatogenesis integral to membrane|plasma membrane follicle-stimulating hormone receptor activity|protein binding NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 73 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094) GTGGCCATTCCTTGGATGGGT 0.438000 Gonadal Dysgenesis, 46 XX 33 92 0 0 1 0 0 RBM47 54502 broad.mit.edu 37 4 40440103 40440103 + Missense_Mutation SNP T T G TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:40440103T>G ENST00000319592.4 - 4 1517 c.808A>C c.(808-810)Aac>Cac p.N270H RBM47_ENST00000515809.1_Intron|RBM47_ENST00000381795.6_Missense_Mutation_p.N270H|RBM47_ENST00000514014.1_Missense_Mutation_p.N232H|RBM47_ENST00000295971.7_Missense_Mutation_p.N270H|RBM47_ENST00000381793.2_Missense_Mutation_p.N270H A0AV96 RBM47_HUMAN RNA binding motif protein 47 270 RRM 3. nucleus nucleotide binding|RNA binding breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1) 29 CAGCCGGGGTTGAACTGGCCG 0.597000 39 84 0 0 1 0 0 TG 7038 broad.mit.edu 37 8 133961154 133961154 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:133961154G>A ENST00000220616.4 + 27 5407 c.5367G>A c.(5365-5367)gtG>gtA p.V1789V TG_ENST00000377869.1_Silent_p.V1732V|TG_ENST00000542445.1_Silent_p.V159V NM_003235.4 NP_003226.4 P01266 THYG_HUMAN thyroglobulin 1789 hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation extracellular space hormone activity NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8) 168 Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735) BRCA - Breast invasive adenocarcinoma(115;0.000701) KIRC - Kidney renal clear cell carcinoma(542;0.0546) GCCACCAGGTGATATTGCGTC 0.468000 49 117 0 0 1 0 0 MOV10L1 54456 broad.mit.edu 37 22 50530498 50530498 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr22:50530498G>A ENST00000262794.5 + 2 249 c.166G>A c.(166-168)Gat>Aat p.D56N MOV10L1_ENST00000395843.1_5'UTR|MOV10L1_ENST00000395858.3_Missense_Mutation_p.D56N|MOV10L1_ENST00000475190.1_3'UTR|MOV10L1_ENST00000545383.1_Missense_Mutation_p.D56N|MOV10L1_ENST00000540615.1_Missense_Mutation_p.D36N NM_018995.2 NP_061868.1 Q9BXT6 M10L1_HUMAN Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse) 56 germ cell development|multicellular organismal development|spermatogenesis ATP binding|ATP-dependent RNA helicase activity|magnesium ion binding|RNA binding breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3) 67 all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114) LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24) CATGATTGATGATATGATCTA 0.438000 43 160 0 0 1 0 0 EXOG 9941 broad.mit.edu 37 3 38542981 38542981 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:38542981C>T ENST00000287675.5 + 3 545 c.449C>T c.(448-450)tCa>tTa p.S150L EXOG_ENST00000422077.2_Missense_Mutation_p.S100L|EXOG_ENST00000358249.2_Missense_Mutation_p.S10L NM_005107.3 NP_005098.2 Q9Y2C4 EXOG_HUMAN endo/exonuclease (5'-3'), endonuclease G-like 150 mitochondrial inner membrane endonuclease activity|metal ion binding|nucleic acid binding central_nervous_system(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|urinary_tract(2) 17 AACAAATTTTCAAGTGTAGGC 0.438000 33 46 0 0 1 0 0 ANKEF1 63926 broad.mit.edu 37 20 10030397 10030397 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr20:10030397G>A ENST00000378380.3 + 6 1509 c.1180G>A c.(1180-1182)Gaa>Aaa p.E394K SNAP25-AS1_ENST00000603542.1_RNA|SNAP25-AS1_ENST00000421143.2_RNA|ANKEF1_ENST00000378392.1_Missense_Mutation_p.E394K|ANKEF1_ENST00000488991.1_3'UTR NM_198798.1 NP_942093.1 ankyrin repeat and EF-hand domain containing 1 CAATATTAATGAATTCTTTAA 0.428000 44 71 0 0 1 0 0 TMTC1 83857 broad.mit.edu 37 12 29725135 29725135 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:29725135G>A ENST00000256062.5 - 9 1584 c.1111C>T c.(1111-1113)Ctg>Ttg p.L371L TMTC1_ENST00000319685.8_5'UTR|TMTC1_ENST00000539277.1_Silent_p.L479L|TMTC1_ENST00000381224.2_Silent_p.L433L|TMTC1_ENST00000552618.1_Intron|TMTC1_ENST00000551659.1_Silent_p.L541L NM_175861.3 NP_787057.2 Q8IUR5 TMTC1_HUMAN transmembrane and tetratricopeptide repeat containing 1 479 integral to membrane binding breast(1)|endometrium(4)|kidney(3)|large_intestine(17)|lung(45)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 75 Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032) TTGTGGGGCAGAGTTTGAACT 0.363000 35 51 0 0 1 0 0 TRPM6 140803 broad.mit.edu 37 9 77442757 77442757 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:77442757C>T ENST00000451710.3 - 7 1015 c.778G>A c.(778-780)Gga>Aga p.G260R TRPM6_ENST00000376871.3_Missense_Mutation_p.G260R|TRPM6_ENST00000361255.3_Missense_Mutation_p.G255R|TRPM6_ENST00000376872.3_Missense_Mutation_p.G260R|TRPM6_ENST00000359047.2_Missense_Mutation_p.G260R|TRPM6_ENST00000360774.1_Missense_Mutation_p.G260R|TRPM6_ENST00000449912.2_Missense_Mutation_p.G255R|TRPM6_ENST00000483186.1_5'UTR|TRPM6_ENST00000376864.4_Missense_Mutation_p.G260R Q9BX84 TRPM6_HUMAN transient receptor potential cation channel, subfamily M, member 6 260 response to toxin integral to membrane ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 126 ATTTCATTTCCATACTTGCCC 0.512000 47 82 0 0 1 0 0 TARSL2 123283 broad.mit.edu 37 15 102242484 102242484 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr15:102242484G>A ENST00000335968.3 - 9 1395 c.1179C>T c.(1177-1179)ttC>ttT p.F393F NM_152334.2 NP_689547.2 A2RTX5 SYTC2_HUMAN threonyl-tRNA synthetase-like 2 393 threonyl-tRNA aminoacylation cytoplasm ATP binding|threonine-tRNA ligase activity breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(14)|ovary(2)|skin(1)|urinary_tract(1) 29 Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505) OV - Ovarian serous cystadenocarcinoma(32;0.000268)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23) CTTCCTCTTGGAACTTTTCCC 0.433000 60 129 0 0 1 0 0 RETNLB 84666 broad.mit.edu 37 3 108476000 108476000 + Silent SNP T T C TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:108476000T>C ENST00000295755.6 - 1 231 c.33A>G c.(31-33)ctA>ctG p.L11L NM_032579.2 NP_115968.1 Q9BQ08 RETNB_HUMAN resistin like beta 11 cell proliferation extracellular region hormone activity endometrium(1)|kidney(3)|lung(10)|prostate(1)|skin(1) 16 GAAGGGGGATTAGGATGAGAA 0.507000 18 41 0 0 1 0 0 SDK1 221935 broad.mit.edu 37 7 3681638 3681638 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:3681638G>A ENST00000404826.2 + 4 753 c.614G>A c.(613-615)gGa>gAa p.G205E SDK1_ENST00000389531.3_Missense_Mutation_p.G205E NM_152744.3 NP_689957.3 Q7Z5N4 SDK1_HUMAN sidekick cell adhesion molecule 1 205 Ig-like C2-type 2. cell adhesion integral to membrane NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4) 153 all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194) UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15) GTTTCTCAAGGACGTGCAGCG 0.453000 31 64 0 0 1 0 0 SERPINA9 327657 broad.mit.edu 37 14 94935855 94935855 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr14:94935855G>A ENST00000337425.5 - 2 451 c.377C>T c.(376-378)tCt>tTt p.S126F SERPINA9_ENST00000424550.2_Intron|SERPINA9_ENST00000380365.3_Missense_Mutation_p.S108F|SERPINA9_ENST00000546329.1_Missense_Mutation_p.S90F|SERPINA9_ENST00000298845.7_Intron|SERPINA9_ENST00000448305.2_Missense_Mutation_p.S28F NM_175739.3 NP_783866.2 Q86WD7 SPA9_HUMAN serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9 108 regulation of proteolysis cytoplasm|extracellular region|membrane serine-type endopeptidase inhibitor activity NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(17) 21 all_cancers(154;0.0691)|all_epithelial(191;0.233) Epithelial(152;0.144)|COAD - Colon adenocarcinoma(157;0.224)|all cancers(159;0.24) GTGGATGGCAGACTCTGGTGT 0.577000 52 82 0 0 1 0 0 PLCH1 23007 broad.mit.edu 37 3 155199111 155199111 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:155199111C>T ENST00000460012.1 - 23 4971 c.4614G>A c.(4612-4614)agG>agA p.R1538R PLCH1_ENST00000494598.1_Intron|PLCH1_ENST00000414191.1_Silent_p.R1538R|PLCH1_ENST00000340059.7_Silent_p.R1576R|PLCH1_ENST00000334686.6_Silent_p.R1538R|PLCH1_ENST00000447496.2_3'UTR Q4KWH8 PLCH1_HUMAN phospholipase C, eta 1 1576 lipid catabolic process|phosphatidylinositol-mediated signaling membrane calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4) 107 Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114) ATGACAACTTCCTGACCAGTG 0.517000 59 97 0 0 1 0 0 SLC26A11 284129 broad.mit.edu 37 17 78223035 78223035 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:78223035C>T ENST00000361193.3 + 16 1885 c.1605C>T c.(1603-1605)ctC>ctT p.L535L SLC26A11_ENST00000411502.3_Silent_p.L535L|SLC26A11_ENST00000572725.1_Silent_p.L535L|SLC26A11_ENST00000546047.2_Silent_p.L535L NM_001166347.1|NM_173626.3 NP_001159819.1|NP_775897.3 Q86WA9 S2611_HUMAN solute carrier family 26 (anion exchanger), member 11 535 STAS. endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosomal membrane|plasma membrane anion:anion antiporter activity|secondary active sulfate transmembrane transporter activity central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 28 all_neural(118;0.0538) OV - Ovarian serous cystadenocarcinoma(97;0.0344)|BRCA - Breast invasive adenocarcinoma(99;0.0908) TCGGCGAGCTCCTCCAGGACT 0.662000 15 55 0 0 1 0 0 MYBPHL 343263 broad.mit.edu 37 1 109839805 109839805 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:109839805G>A ENST00000357155.1 - 4 486 c.437C>T c.(436-438)cCa>cTa p.P146L MYBPHL_ENST00000477962.1_Intron NM_001010985.2|NM_001265613.1 NP_001010985.2|NP_001252542.1 A2RUH7 MBPHL_HUMAN myosin binding protein H-like 146 Fibronectin type-III. central_nervous_system(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(2) 14 all_lung(203;0.00519)|all_epithelial(167;0.00575)|Lung NSC(277;0.00822) Colorectal(144;0.0306)|Lung(183;0.0681)|COAD - Colon adenocarcinoma(174;0.117)|Epithelial(280;0.197)|all cancers(265;0.225) AGGAGGGCCTGGCCTCTCTGA 0.552000 53 149 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179605631 179605631 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:179605631C>T ENST00000589042.1 - 48 12553 c.12329G>A c.(12328-12330)gGa>gAa p.G4110E TTN_ENST00000359218.5_Missense_Mutation_p.G3872E|TTN_ENST00000591111.1_Missense_Mutation_p.G3793E|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000460472.2_Missense_Mutation_p.G3747E|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.G3939E NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 3793 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TTCCTGAGCTCCCAAAGGAAG 0.418000 49 84 0 0 1 0 0 C5orf20 140947 broad.mit.edu 37 5 134782645 134782645 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:134782645C>T ENST00000503143.2 - 1 393 c.154G>A c.(154-156)Gag>Aag p.E52K TIFAB_ENST00000537858.1_3'UTR NM_130848.2 NP_570900.1 Q8TF63 DCNP1_HUMAN chromosome 5 open reading frame 20 52 nucleus endometrium(1)|lung(1)|prostate(1) 3 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) GGCAGCAGCTCATTCCCAAAG 0.622000 21 34 0 0 1 0 0 STOX2 56977 broad.mit.edu 37 4 184931525 184931525 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:184931525C>T ENST00000308497.4 + 3 2969 c.1534C>T c.(1534-1536)Ctt>Ttt p.L512F STOX2_ENST00000438269.1_Missense_Mutation_p.L512F NM_020225.1 NP_064610.1 Q9P2F5 STOX2_HUMAN storkhead box 2 512 embryo development|maternal placenta development breast(1)|endometrium(7)|lung(6) 14 all_lung(41;1.89e-12)|Lung NSC(41;3.48e-12)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|all_hematologic(60;0.027)|Prostate(90;0.0283) all cancers(43;2.85e-26)|Epithelial(43;2.27e-22)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-10)|Colorectal(24;8.23e-06)|GBM - Glioblastoma multiforme(59;1.64e-05)|STAD - Stomach adenocarcinoma(60;3.6e-05)|COAD - Colon adenocarcinoma(29;4.37e-05)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.227) GCCGGAAGACCTTGCTGAAGG 0.542000 7 19 0 0 1 0 0 SLC30A3 7781 broad.mit.edu 37 2 27479738 27479738 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:27479738G>A ENST00000233535.4 - 6 1153 c.801C>T c.(799-801)ccC>ccT p.P267P SLC30A3_ENST00000447008.2_Silent_p.P262P NM_003459.4 NP_003450.2 Q99726 ZNT3_HUMAN solute carrier family 30 (zinc transporter), member 3 267 regulation of sequestering of zinc ion cell junction|integral to plasma membrane|late endosome|membrane fraction|synaptic vesicle membrane zinc transporting ATPase activity NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(11)|pancreas(1) 20 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) AGGTGCTGATGGGGTCGGCTG 0.547000 20 43 0 0 1 0 0 RELN 5649 broad.mit.edu 37 7 103136296 103136296 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:103136296C>T ENST00000424685.2 - 57 9402 c.9243G>A c.(9241-9243)agG>agA p.R3081R CTB-107G13.1_ENST00000422488.1_RNA|RELN_ENST00000343529.5_Silent_p.R3081R|RELN_ENST00000428762.1_Silent_p.R3081R P78509 RELN_HUMAN reelin 3081 axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2) 227 COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184) ATCCTGCTGTCCTTACAGCAT 0.398000 35 189 0 0 1 0 0 AHNAK2 113146 broad.mit.edu 37 14 105409233 105409233 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr14:105409233G>A ENST00000333244.5 - 7 12674 c.12555C>T c.(12553-12555)tcC>tcT p.S4185S AHNAK2_ENST00000557457.1_Intron NM_138420.2 NP_612429.2 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 4185 nucleus cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3) 33 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) CGGCGGAAGGGGACTGAATGC 0.657000 16 452 0 0 1 0 0 FRMPD1 22844 broad.mit.edu 37 9 37740884 37740884 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:37740884G>A ENST00000536622.1 + 12 2376 c.1825G>A c.(1825-1827)Gag>Aag p.E609K RP11-613M10.9_ENST00000540557.1_Intron|FRMPD1_ENST00000539465.1_Intron|FRMPD1_ENST00000377765.3_Intron|FRMPD1_ENST00000541302.1_Missense_Mutation_p.E656K Q5SYB0 FRPD1_HUMAN FERM and PDZ domain containing 1 794 cytoskeleton|cytosol|plasma membrane NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 93 GBM - Glioblastoma multiforme(29;0.00655) CCCGTCAGGTGAGCCGTCCCT 0.627000 24 50 0 0 1 0 0 B3GALT5 10317 broad.mit.edu 37 21 41033210 41033210 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr21:41033210G>A ENST00000380620.3 + 5 1316 c.724G>A c.(724-726)Gaa>Aaa p.E242K AF064860.5_ENST00000416555.1_RNA|B3GALT5_ENST00000343118.4_Missense_Mutation_p.E242K|B3GALT5_ENST00000380618.1_Missense_Mutation_p.E242K|B3GALT5_ENST00000398714.2_Missense_Mutation_p.E242K Q9Y2C3 B3GT5_HUMAN UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 5 242 protein glycosylation endoplasmic reticulum|Golgi membrane|integral to membrane UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1) 16 Prostate(19;2.55e-06) CATTAAACTGGAAGACGTGTT 0.557000 5 166 0 0 1 0 0 ACSM2B 348158 broad.mit.edu 37 16 20548624 20548624 + Nonsense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr16:20548624G>A ENST00000329697.6 - 14 1858 c.1690C>T c.(1690-1692)Cga>Tga p.R564* ACSM2B_ENST00000565232.1_Nonsense_Mutation_p.R564*|ACSM2B_ENST00000567001.1_Nonsense_Mutation_p.R564*|ACSM2B_ENST00000565322.1_Nonsense_Mutation_p.R485* NM_001105069.1 NP_001098539.1 Q68CK6 ACS2B_HUMAN acyl-CoA synthetase medium-chain family member 2B 564 fatty acid metabolic process|xenobiotic metabolic process mitochondrial matrix ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding p.R564*(2) breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5) 57 TCCTTGTCTCGAAGTTTGGTT 0.463000 118 265 0 0 1 0 0 MUC2 4583 broad.mit.edu 37 11 1097355 1097355 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:1097355G>A ENST00000441003.2 + 35 6798 c.6771G>A c.(6769-6771)aaG>aaA p.K2257K MUC2_ENST00000361558.6_Silent_p.K395K NM_002457.2 NP_002448.2 Q02817 MUC2_HUMAN mucin 2, oligomeric mucus/gel-forming 4619 inner mucus layer|outer mucus layer protein binding NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 102 all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191) BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) Pranlukast(DB01411) ACAACACCAAGGGCCAGTGTG 0.672000 22 23 0 0 1 0 0 FER1L5 90342 broad.mit.edu 37 2 97370422 97370422 + RNA SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:97370422G>A ENST00000457909.1 + 0 5670 A0AVI2 FR1L5_HUMAN fer-1-like 5 (C. elegans) integral to membrane NS(1)|autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(9)|large_intestine(9)|lung(6)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2) 38 CCAGCCCCAGGAGACTAATTA 0.488000 19 61 0 0 1 0 0 MYH13 8735 broad.mit.edu 37 17 10223556 10223556 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:10223556C>T ENST00000418404.3 - 25 3425 c.3262G>A c.(3262-3264)Gag>Aag p.E1088K MYH13_ENST00000252172.4_Missense_Mutation_p.E1088K|MYH13_ENST00000570743.1_Missense_Mutation_p.E1088K Q9UKX3 MYH13_HUMAN myosin, heavy chain 13, skeletal muscle 1088 muscle contraction muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|microfilament motor activity breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2) 108 AGTTCAAACTCCTTCCTGCAA 0.368000 4 17 0 0 1 0 0 PYHIN1 149628 broad.mit.edu 37 1 158912104 158912104 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:158912104G>A ENST00000368140.1 + 5 1162 c.917G>A c.(916-918)aGa>aAa p.R306K PYHIN1_ENST00000485134.1_3'UTR|PYHIN1_ENST00000392252.3_Missense_Mutation_p.R297K|PYHIN1_ENST00000368138.3_Missense_Mutation_p.R297K|PYHIN1_ENST00000392254.2_Missense_Mutation_p.R306K NM_152501.4|NM_198928.4|NM_198929.4 NP_689714.2|NP_945146.1|NP_945147.1 Q6K0P9 IFIX_HUMAN pyrin and HIN domain family, member 1 306 HIN-200. cell cycle nuclear speck breast(2)|endometrium(3)|large_intestine(10)|lung(32)|ovary(3)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 all_hematologic(112;0.0378) GACATCATCAGAAGAGCAAAG 0.373000 45 53 0 0 1 0 0 RP1 6101 broad.mit.edu 37 8 55539774 55539774 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:55539774C>T ENST00000220676.1 + 4 3480 c.3332C>T c.(3331-3333)tCa>tTa p.S1111L NM_006269.1 NP_006260.1 P56715 RP1_HUMAN retinitis pigmentosa 1 (autosomal dominant) 1111 axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment microtubule binding p.S1111L(1) NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2) 169 all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123) OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285) ATGCCAGGTTCACTTGCAGGT 0.428000 26 63 0 0 1 0 0 FAT3 120114 broad.mit.edu 37 11 92616082 92616082 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:92616082G>A ENST00000298047.6 + 23 12477 c.12460G>A c.(12460-12462)Gag>Aag p.E4154K FAT3_ENST00000409404.2_Missense_Mutation_p.E4154K|FAT3_ENST00000533797.1_Missense_Mutation_p.E489K|FAT3_ENST00000525166.1_Missense_Mutation_p.E4004K Q8TDW7 FAT3_HUMAN FAT atypical cadherin 3 4154 homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 85 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) GGGGAAGGAGGAGCTCATCGG 0.602000 TCGA Ovarian(4;0.039) 11 16 0 0 1 0 0 TIMP2 7077 broad.mit.edu 37 17 76851906 76851906 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:76851906G>A ENST00000262768.7 - 5 804 c.506C>T c.(505-507)cCg>cTg p.P169L RP11-323N12.5_ENST00000587434.1_RNA|TIMP2_ENST00000586057.1_Missense_Mutation_p.P92L|TIMP2_ENST00000536189.2_Missense_Mutation_p.P92L|TIMP2_ENST00000585421.1_Missense_Mutation_p.P92L NM_003255.4 NP_003246.1 P16035 TIMP2_HUMAN TIMP metallopeptidase inhibitor 2 169 metal ion binding|metalloendopeptidase inhibitor activity central_nervous_system(2) 2 BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.194) GCACTCGTCCGGGGAGGAGAT 0.637000 8 172 0 0 1 0 0 SPAG11B 10407 broad.mit.edu 37 8 7308365 7308365 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:7308365C>T ENST00000398462.2 - 3 422 c.272G>A c.(271-273)aGa>aAa p.R91K SPAG11B_ENST00000361111.2_Intron|SPAG11B_ENST00000458665.1_Missense_Mutation_p.R38K|SPAG11B_ENST00000359758.5_Missense_Mutation_p.R91K|SPAG11B_ENST00000528168.1_3'UTR|SPAG11B_ENST00000297498.2_3'UTR NM_058201.2 NP_478108.2 Q08648 SG11B_HUMAN sperm associated antigen 11B 0 spermatogenesis extracellular region large_intestine(2)|lung(3)|urinary_tract(1) 6 COAD - Colon adenocarcinoma(149;0.0162)|READ - Rectum adenocarcinoma(644;0.236) GAAAAAAAGTCTGCAGATCCC 0.408000 32 175 0 0 1 0 0 WNK1 65125 broad.mit.edu 37 12 977134 977134 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:977134C>T ENST00000537687.1 + 9 2885 c.2242C>T c.(2242-2244)Ccc>Tcc p.P748S WNK1_ENST00000574564.1_Missense_Mutation_p.P47S|WNK1_ENST00000530271.2_Missense_Mutation_p.P833S|WNK1_ENST00000315939.6_Intron|WNK1_ENST00000535572.1_Intron|WNK1_ENST00000340908.4_Intron NM_001184985.1|NM_213655.4 NP_001171914.1|NP_998820.3 Q9H4A3 WNK1_HUMAN WNK lysine deficient protein kinase 1 751 intracellular protein kinase cascade|ion transport|neuron development cytoplasm ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2) 104 all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632) Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197) TTCACCACCTCCCACCTGCCC 0.537000 32 63 0 0 1 0 0 TMEM19 55266 broad.mit.edu 37 12 72091239 72091239 + Missense_Mutation SNP T T C TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:72091239T>C ENST00000266673.5 + 4 1156 c.562T>C c.(562-564)Tgg>Cgg p.W188R RP11-293I14.2_ENST00000548802.1_3'UTR|TMEM19_ENST00000549735.1_Missense_Mutation_p.W188R NM_018279.3 NP_060749.2 Q96HH6 TMM19_HUMAN transmembrane protein 19 188 integral to membrane large_intestine(1)|lung(8) 9 Breast(359;0.0889) GBM - Glioblastoma multiforme(134;0.044) TGGAGACACATGGGCTTCAGA 0.498000 54 127 0 0 1 0 0 STON2 85439 broad.mit.edu 37 14 81743579 81743579 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr14:81743579C>T ENST00000555447.1 - 6 2488 c.2076G>A c.(2074-2076)acG>acA p.T692T STON2_ENST00000267540.2_Silent_p.T692T NM_001256430.1 NP_001243359.1 Q8WXE9 STON2_HUMAN stonin 2 692 MHD. endocytosis|intracellular protein transport|regulation of endocytosis clathrin adaptor complex|nucleolus protein binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|pancreas(2)|prostate(1)|skin(5) 34 BRCA - Breast invasive adenocarcinoma(234;0.0348) CACTTGTGGCCGTCCTGAGTG 0.562000 5 189 0 0 1 0 0 PKP4 8502 broad.mit.edu 37 2 159481481 159481481 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:159481481C>T ENST00000389757.3 + 7 820 c.695C>T c.(694-696)cCt>cTt p.P232L PKP4_ENST00000389759.3_Missense_Mutation_p.P232L NM_001005476.1 NP_001005476.1 Q99569 PKP4_HUMAN plakophilin 4 232 cell adhesion desmosome protein binding breast(2)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(21)|ovary(6)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1) 61 GGCGTGTCTCCTTCAAGGGGG 0.517000 HNSCC(62;0.18) 49 116 0 0 1 0 0 DCAF6 55827 broad.mit.edu 37 1 168032898 168032898 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:168032898G>A ENST00000367840.3 + 18 2434 c.2340G>A c.(2338-2340)cgG>cgA p.R780R DCAF6_ENST00000432587.2_Silent_p.R749R|DCAF6_ENST00000312263.6_Silent_p.R689R|DCAF6_ENST00000367843.3_Silent_p.R709R NM_001198956.1 NP_001185885.1 Q58WW2 DCAF6_HUMAN DDB1 and CUL4 associated factor 6 689 positive regulation of transcription from RNA polymerase II promoter CUL4 RING ubiquitin ligase complex|nucleus ligand-dependent nuclear receptor transcription coactivator activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 36 TCTTCAGACGGAGAAAAGAAA 0.343000 28 20 0 0 1 0 0 POMC 5443 broad.mit.edu 37 2 25384439 25384439 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:25384439C>T ENST00000405623.1 - 3 770 c.315G>A c.(313-315)gaG>gaA p.E105E POMC_ENST00000264708.3_Silent_p.E105E|POMC_ENST00000395826.2_Silent_p.E105E|POMC_ENST00000380794.1_Silent_p.E105E P01189 COLI_HUMAN proopiomelanocortin 105 cell-cell signaling|cellular nitrogen compound metabolic process|cellular pigmentation|generation of precursor metabolites and energy|hormone biosynthetic process|negative regulation of tumor necrosis factor production|neuropeptide signaling pathway|peptide hormone processing|positive regulation of transcription from RNA polymerase II promoter|regulation of appetite|regulation of blood pressure extracellular space|stored secretory granule hormone activity|type 1 melanocortin receptor binding|type 3 melanocortin receptor binding|type 4 melanocortin receptor binding central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(1) 12 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Hydrocortisone(DB00741)|Loperamide(DB00836)|Trilostane(DB01108) CTGAGACGTCCTCGCGCTTCT 0.731000 5 9 0 0 1 0 0 KCNJ15 3772 broad.mit.edu 37 21 39671539 39671539 + Missense_Mutation SNP T T G TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr21:39671539T>G ENST00000398930.1 + 4 710 c.356T>G c.(355-357)cTc>cGc p.L119R KCNJ15_ENST00000398934.1_Missense_Mutation_p.L119R|KCNJ15_ENST00000328656.3_Missense_Mutation_p.L119R|KCNJ15_ENST00000398932.1_Missense_Mutation_p.L119R|KCNJ15_ENST00000398938.2_Missense_Mutation_p.L119R Q99712 IRK15_HUMAN potassium inwardly-rectifying channel, subfamily J, member 15 119 synaptic transmission integral to plasma membrane inward rectifier potassium channel activity autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1) 24 GGGGCGTTTCTCTTTTCCCTG 0.498000 5 167 0 0 1 0 0 PKNOX1 5316 broad.mit.edu 37 21 44427677 44427677 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr21:44427677C>T ENST00000291547.5 + 3 339 c.128C>T c.(127-129)cCc>cTc p.P43L PKNOX1_ENST00000432907.2_5'UTR NM_004571.3 NP_004562.2 P55347 PKNX1_HUMAN PBX/knotted 1 homeobox 1 43 sequence-specific DNA binding cervix(3)|endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(8)|ovary(1)|prostate(1) 22 GTGAGCCCTCCCCCTGTGGAG 0.527000 77 120 0 0 1 0 0 PCNXL2 80003 broad.mit.edu 37 1 233134944 233134944 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:233134944G>A ENST00000258229.8 - 31 5744 c.5510C>T c.(5509-5511)tCc>tTc p.S1837F PCNXL2_ENST00000344698.2_Missense_Mutation_p.S489F NM_014801.3 NP_055616.3 A6NKB5 PCX2_HUMAN pecanex-like 2 (Drosophila) 1837 integral to membrane NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 86 all_cancers(173;0.0347)|Prostate(94;0.137) CCCTAGGTAGGATGTGGTTAG 0.522000 22 26 0 0 1 0 0 CRK 1398 broad.mit.edu 37 17 1340382 1340382 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:1340382G>A ENST00000300574.2 - 2 449 c.309C>T c.(307-309)ttC>ttT p.F103F CRK_ENST00000572145.1_5'UTR|CRK_ENST00000398970.5_Silent_p.F103F|CRK_ENST00000574295.1_Silent_p.F103F NM_016823.3 NP_058431.2 P46108 CRK_HUMAN v-crk avian sarcoma virus CT10 oncogene homolog 103 SH2. actin cytoskeleton organization|activation of MAPKK activity|blood coagulation|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of transcription from RNA polymerase II promoter cytosol|endosome|nucleus|plasma membrane protein binding|SH2 domain binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(2) 9 UCEC - Uterine corpus endometrioid carcinoma (25;0.083) GTATTTTGTAGAATTCCAGTA 0.458000 7 123 0 0 1 0 0 OR56B1 387748 broad.mit.edu 37 11 5758209 5758209 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:5758209C>T ENST00000317121.3 + 1 529 c.463C>T c.(463-465)Ctg>Ttg p.L155L TRIM5_ENST00000380027.1_Intron NM_001005180.2 NP_001005180.1 Q8NGI3 O56B1_HUMAN olfactory receptor, family 56, subfamily B, member 1 155 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(1)|skin(1) 13 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.086) Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.184) AAAAGCTACCCTGTTCATGGT 0.438000 53 40 0 0 1 0 0 ABCC1 4363 broad.mit.edu 37 16 16208927 16208927 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr16:16208927C>T ENST00000399408.2 + 24 3589 c.3414C>T c.(3412-3414)ttC>ttT p.F1138F ABCC1_ENST00000349029.5_Silent_p.F1013F|ABCC1_ENST00000351154.5_Silent_p.F1069F|ABCC1_ENST00000399410.3_Silent_p.F1128F|ABCC1_ENST00000346370.5_Silent_p.F1072F|ABCC1_ENST00000345148.5_Silent_p.F1128F P33527 MRP1_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 1 1128 ABC transmembrane type-1 2. hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3) 56 Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138) TCTACTTCTTCGTCCAGGTAA 0.532000 4 59 0 0 1 0 0 CRYL1 51084 broad.mit.edu 37 13 21006413 21006413 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr13:21006413G>A ENST00000382812.1 - 6 623 c.395C>T c.(394-396)cCg>cTg p.P132L CRYL1_ENST00000480748.1_5'UTR|CRYL1_ENST00000298248.7_Missense_Mutation_p.P154L Q9Y2S2 CRYL1_HUMAN crystallin, lambda 1 154 fatty acid metabolic process cytosol 3-hydroxyacyl-CoA dehydrogenase activity|L-gulonate 3-dehydrogenase activity|NAD+ binding|protein homodimerization activity NS(1)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)|upper_aerodigestive_tract(1) 14 all_cancers(29;2.27e-23)|all_epithelial(30;1.69e-19)|all_lung(29;8.29e-18)|Lung SC(185;0.0262)|Ovarian(182;0.0827)|Hepatocellular(188;0.244) all cancers(112;6.6e-05)|Epithelial(112;0.00178)|OV - Ovarian serous cystadenocarcinoma(117;0.0169)|Lung(94;0.0215)|GBM - Glioblastoma multiforme(144;0.0402)|LUSC - Lung squamous cell carcinoma(192;0.061) CTCAACCAGCGGGATGTAGTA 0.587000 23 62 0 0 1 0 0 VCAN 1462 broad.mit.edu 37 5 82836521 82836521 + Missense_Mutation SNP C C G TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:82836521C>G ENST00000265077.3 + 8 8264 c.7699C>G c.(7699-7701)Cta>Gta p.L2567V VCAN_ENST00000502527.2_Intron|VCAN_ENST00000512590.2_Intron|VCAN_ENST00000342785.4_Intron|VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000343200.5_Missense_Mutation_p.L1580V NM_004385.4 NP_004376.2 P13611 CSPG2_HUMAN versican 2567 GAG-beta. cell adhesion|cell recognition|glial cell migration extracellular space|proteinaceous extracellular matrix calcium ion binding|hyaluronic acid binding|sugar binding NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 190 Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142) OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29) CCTTGAAATTCTACCTGAGCT 0.333000 42 80 0 0 1 0 0 OR5AK2 390181 broad.mit.edu 37 11 56756774 56756774 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:56756774C>T ENST00000326855.2 + 1 428 c.386C>T c.(385-387)cCc>cTc p.P129L NM_001005323.1 NP_001005323.1 Q8NH90 O5AK2_HUMAN olfactory receptor, family 5, subfamily AK, member 2 129 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(3)|endometrium(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 21 ATCTGTAAGCCCCTTCACTAT 0.433000 42 95 0 0 1 0 0 ZNF829 374899 broad.mit.edu 37 19 37399358 37399358 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:37399358G>A ENST00000520965.1 - 4 409 c.343C>T c.(343-345)Ccg>Tcg p.P115S ZNF829_ENST00000391711.3_Missense_Mutation_p.P34S|ZNF345_ENST00000432005.2_Intron NM_001171979.1 NP_001165450.1 Q3KNS6 ZN829_HUMAN zinc finger protein 829 34 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|kidney(1)|large_intestine(11)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 29 Esophageal squamous(110;0.183) COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) AACATCACCGGCCCCTGAAAC 0.428000 34 87 0 0 1 0 0 TNR 7143 broad.mit.edu 37 1 175375405 175375405 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:175375405G>A ENST00000367674.1 - 3 1154 c.446C>T c.(445-447)tCg>tTg p.S149L TNR_ENST00000263525.2_Missense_Mutation_p.S149L NM_003285.2 NP_003276.3 Q92752 TENR_HUMAN tenascin R 149 axon guidance|cell adhesion|signal transduction proteinaceous extracellular matrix NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 177 Renal(580;0.146) TCGCAGCACCGACACCTCCCT 0.612000 64 100 0 0 1 0 0 SH3RF1 57630 broad.mit.edu 37 4 170028094 170028094 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:170028094G>A ENST00000284637.9 - 11 2743 c.2402C>T c.(2401-2403)tCc>tTc p.S801F NM_020870.3 NP_065921.2 Q7Z6J0 SH3R1_HUMAN SH3 domain containing ring finger 1 801 Golgi apparatus|lamellipodium|perinuclear region of cytoplasm ligase activity|zinc ion binding NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 31 Prostate(90;0.00267)|Renal(120;0.0183) GBM - Glioblastoma multiforme(119;0.0287) GGAGTCCAGGGAACTTGCCTT 0.612000 30 80 0 0 1 0 0 KCNIP4 80333 broad.mit.edu 37 4 20852273 20852273 + Missense_Mutation SNP G G C TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:20852273G>C ENST00000382148.3 - 2 442 c.106C>G c.(106-108)Ctg>Gtg p.L36V KCNIP4_ENST00000359001.5_5'UTR|KCNIP4_ENST00000382150.4_Missense_Mutation_p.L40V|KCNIP4_ENST00000382152.2_Missense_Mutation_p.L61V|KCNIP4_ENST00000447367.2_Missense_Mutation_p.L27V|KCNIP4_ENST00000382149.4_5'UTR|KCNIP4_ENST00000509207.1_5'UTR NM_001035003.1 NP_001030175.1 Q6PIL6 KCIP4_HUMAN Kv channel interacting protein 4 61 KIS (By similarity). plasma membrane calcium ion binding|potassium channel activity|protein binding|voltage-gated ion channel activity NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1) 13 Breast(46;0.134) GCCATCTCCAGTTCATCTTCC 0.493000 32 51 0 0 1 0 0 TGM7 116179 broad.mit.edu 37 15 43574283 43574283 + Splice_Site SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr15:43574283C>T ENST00000452443.2 - 9 1114 c.1108_splice c.e9-1 p.G370_splice NM_052955.2 NP_443187.1 Q96PF1 TGM7_HUMAN transglutaminase 7 370 peptide cross-linking acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(2)|prostate(4)|skin(1) 39 all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;9.14e-07) L-Glutamine(DB00130) AGCAGAACAGCCCTGTGGAGG 0.612000 17 40 0 0 1 0 0 MSRB3 253827 broad.mit.edu 37 12 65847568 65847568 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:65847568C>T ENST00000308259.5 + 6 627 c.353C>T c.(352-354)tCc>tTc p.S118F MSRB3_ENST00000535664.1_Missense_Mutation_p.S118F|MSRB3_ENST00000540804.1_Missense_Mutation_p.S125F|MSRB3_ENST00000355192.3_Missense_Mutation_p.S125F NM_001031679.2|NM_001193460.1 NP_001026849.1|NP_001180389.1 Q8IXL7 MSRB3_HUMAN methionine sulfoxide reductase B3 125 protein repair endoplasmic reticulum|mitochondrion peptide-methionine-(S)-S-oxide reductase activity|protein-methionine-R-oxide reductase activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1) 13 LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975) GBM - Glioblastoma multiforme(28;0.131) GATGACTTTTCCTATGGGATG 0.458000 33 65 0 0 1 0 0 C12orf42 374470 broad.mit.edu 37 12 103696003 103696003 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:103696003G>A ENST00000548048.1 - 9 1261 c.765C>T c.(763-765)ttC>ttT p.F255F C12orf42_ENST00000378113.2_Silent_p.F322F|C12orf42_ENST00000548883.1_Silent_p.F322F|C12orf42_ENST00000315192.8_Intron Q96LP6 CL042_HUMAN chromosome 12 open reading frame 42 322 NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1) 22 TCTTGGAGGGGAAATGGGTGG 0.622000 4 87 0 0 1 0 0 MAP3K10 4294 broad.mit.edu 37 19 40698446 40698446 + Missense_Mutation SNP C C G TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:40698446C>G ENST00000253055.3 + 1 796 c.508C>G c.(508-510)Ctc>Gtc p.L170V MAP3K10_ENST00000593906.1_Intron NM_002446.3 NP_002437.2 Q02779 M3K10_HUMAN mitogen-activated protein kinase kinase kinase 10 170 Protein kinase. activation of JUN kinase activity|induction of apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of JNK cascade|protein autophosphorylation|smoothened signaling pathway cytoplasm ATP binding|bHLH transcription factor binding|JUN kinase kinase kinase activity|protein homodimerization activity|transcription corepressor activity NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2) 24 CCCCCCACACCTCTGCCTAGT 0.647000 34 63 0 0 1 0 0 FAT3 120114 broad.mit.edu 37 11 92577341 92577341 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:92577341G>A ENST00000298047.6 + 18 10825 c.10808G>A c.(10807-10809)gGg>gAg p.G3603E FAT3_ENST00000409404.2_Missense_Mutation_p.G3603E|FAT3_ENST00000525166.1_Missense_Mutation_p.G3453E Q8TDW7 FAT3_HUMAN FAT atypical cadherin 3 3603 Cadherin 33. homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 85 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) AGTCACGATGGGAAAATCATC 0.478000 TCGA Ovarian(4;0.039) 5 320 0 0 1 0 0 PNLDC1 154197 broad.mit.edu 37 6 160240014 160240014 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:160240014C>T ENST00000275275.5 + 17 1432 c.1261C>T c.(1261-1263)Ccc>Tcc p.P421S PNLDC1_ENST00000392167.3_Missense_Mutation_p.P432S NM_001271862.1|NM_173516.1 NP_001258791.1|NP_775787.1 Q8NA58 PNDC1_HUMAN poly(A)-specific ribonuclease (PARN)-like domain containing 1 421 integral to membrane|nucleus nucleic acid binding autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1) 31 Breast(66;0.00519)|Ovarian(120;0.123) OV - Ovarian serous cystadenocarcinoma(65;1.55e-18)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06) TATCCGACCTCCCATCCTCAT 0.463000 45 99 0 0 1 0 0 OR51G1 79324 broad.mit.edu 37 11 4944829 4944829 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:4944829G>A ENST00000321961.2 - 1 808 c.741C>T c.(739-741)atC>atT p.I247I MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron NM_001005237.1 NP_001005237.1 Q8NGK1 O51G1_HUMAN olfactory receptor, family 51, subfamily G, member 1 247 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(4)|soft_tissue(1) 25 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;2.58e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19) GTACAGCACAGATATGAGAGA 0.532000 4 73 0 0 1 0 0 DSPP 1834 broad.mit.edu 37 4 88533679 88533679 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:88533679G>A ENST00000399271.1 + 4 461 c.341G>A c.(340-342)gGa>gAa p.G114E RP11-742B18.1_ENST00000506480.1_RNA|DSPP_ENST00000282478.7_Missense_Mutation_p.G114E NM_014208.3 NP_055023.2 Q9NZW4 DSPP_HUMAN dentin sialophosphoprotein 114 biomineral tissue development|ossification|skeletal system development proteinaceous extracellular matrix calcium ion binding|collagen binding|extracellular matrix structural constituent p.G114E(1) breast(2)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 47 Hepatocellular(203;0.114)|all_hematologic(202;0.236) OV - Ovarian serous cystadenocarcinoma(123;0.000508) GGGGACACAGGAAAAGCAGAA 0.433000 5 48 0 0 1 0 0 ALOX15B 247 broad.mit.edu 37 17 7948939 7948939 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:7948939C>T ENST00000380183.4 + 8 1274 c.1135C>T c.(1135-1137)Ctg>Ttg p.L379L ALOX15B_ENST00000572022.1_Silent_p.L379L|ALOX15B_ENST00000380173.2_Silent_p.L379L|ALOX15B_ENST00000573359.1_Silent_p.L379L NM_001141.2 NP_001132.2 O15296 LX15B_HUMAN arachidonate 15-lipoxygenase, type B 379 Lipoxygenase. induction of apoptosis|leukotriene biosynthetic process|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of growth|prostate gland development|regulation of epithelial cell differentiation cytoplasm arachidonate 15-lipoxygenase activity|iron ion binding|lipoxygenase activity p.L379M(1) NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(1) 24 GCACTCACATCTGCTGCCTGA 0.622000 28 52 0 0 1 0 0 PDE1A 5136 broad.mit.edu 37 2 183011832 183011832 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:183011832C>T ENST00000435564.1 - 14 1812 c.1612G>A c.(1612-1614)Gaa>Aaa p.E538K PDE1A_ENST00000346717.4_Missense_Mutation_p.E504K|PDE1A_ENST00000331935.6_Missense_Mutation_p.E538K|PDE1A_ENST00000409365.1_Missense_Mutation_p.E522K|PDE1A_ENST00000536095.1_Missense_Mutation_p.E434K NM_001258312.1|NM_005019.4 NP_001245241.1|NP_005010.2 P54750 PDE1A_HUMAN phosphodiesterase 1A, calmodulin-dependent 0 activation of phospholipase C activity|nerve growth factor receptor signaling pathway|platelet activation cytosol 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding endometrium(5)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(2) 35 OV - Ovarian serous cystadenocarcinoma(117;0.061) TCATGTTTTTCTTCAGCATTT 0.308000 27 48 0 0 1 0 0 TEX14 56155 broad.mit.edu 37 17 56638901 56638901 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:56638901G>A ENST00000389934.3 - 30 4374 c.4257C>T c.(4255-4257)gaC>gaT p.D1419D TEX14_ENST00000349033.5_Silent_p.D1379D|TEX14_ENST00000584699.1_5'UTR|TEX14_ENST00000240361.8_Silent_p.D1425D NM_001201457.1|NM_198393.3 NP_001188386.1|NP_938207.2 Q8IWB6 TEX14_HUMAN testis expressed 14 1425 cytoplasm ATP binding|protein kinase activity breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3) 81 Medulloblastoma(34;0.127)|all_neural(34;0.237) CCTTGGGAAGGTCTTGTAGCT 0.478000 24 327 0 0 1 0 0 NPDC1 56654 broad.mit.edu 37 9 139935137 139935137 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:139935137G>A ENST00000371600.3 - 4 1515 c.843C>T c.(841-843)tcC>tcT p.S281S NPDC1_ENST00000371601.4_Silent_p.S203S Q9NQX5 NPDC1_HUMAN neural proliferation, differentiation and control, 1 203 integral to membrane NS(1)|large_intestine(1)|lung(1)|prostate(1)|urinary_tract(1) 5 all_cancers(76;0.0926) Myeloproliferative disorder(178;0.0821) STAD - Stomach adenocarcinoma(284;0.123) OV - Ovarian serous cystadenocarcinoma(145;2.96e-05)|Epithelial(140;0.000486) ACCAGCAGAGGGAGGCTACGG 0.706000 3 6 0 0 1 0 0 TRANK1 9881 broad.mit.edu 37 3 36898069 36898069 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:36898069C>T ENST00000429976.2 - 12 3259 c.3012G>A c.(3010-3012)gtG>gtA p.V1004V TRANK1_ENST00000428977.2_Silent_p.V454V|TRANK1_ENST00000301807.6_Silent_p.V454V O15050 TRNK1_HUMAN tetratricopeptide repeat and ankyrin repeat containing 1 1004 DNA repair ATP binding|ATP-dependent DNA helicase activity|DNA binding NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 73 AGGGGTACTCCACTGTGGCTG 0.547000 74 165 0 0 1 0 0 ZNF229 7772 broad.mit.edu 37 19 44934127 44934127 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:44934127C>T ENST00000291187.4 - 6 1133 c.811G>A c.(811-813)Gat>Aat p.D271N CTC-512J12.4_ENST00000588655.1_RNA|ZNF229_ENST00000591289.1_Intron|ZNF229_ENST00000588931.1_Missense_Mutation_p.D277N NM_001278510.1 NP_001265439.1 Q9UJW7 ZN229_HUMAN zinc finger protein 229 277 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1) 45 Prostate(69;0.0352) AGGTCTGCATCGTCCCTGAAG 0.433000 30 60 0 0 1 0 0 CSF1R 1436 broad.mit.edu 37 5 149452923 149452923 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:149452923G>A ENST00000286301.3 - 7 1314 c.1023C>T c.(1021-1023)ccC>ccT p.P341P CSF1R_ENST00000543093.1_Intron NM_005211.3 NP_005202.2 P07333 CSF1R_HUMAN colony stimulating factor 1 receptor 341 Ig-like C2-type 4. cell proliferation|multicellular organismal development|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane|receptor complex ATP binding|cytokine binding|macrophage colony-stimulating factor receptor activity|protein homodimerization activity NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(38)|kidney(2)|large_intestine(6)|liver(3)|lung(23)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3) 93 KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147) Imatinib(DB00619)|Sunitinib(DB01268) GGTCAGAAAAGGGTCCCAGGT 0.567000 6 311 0 0 1 0 0 DPP6 1804 broad.mit.edu 37 7 154263931 154263931 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:154263931C>T ENST00000404039.1 + 5 952 c.365C>T c.(364-366)tCa>tTa p.S122L DPP6_ENST00000406326.1_Missense_Mutation_p.S186L|DPP6_ENST00000427557.1_Missense_Mutation_p.S124L|DPP6_ENST00000496611.1_3'UTR|DPP6_ENST00000377770.3_Missense_Mutation_p.S186L|DPP6_ENST00000332007.3_Missense_Mutation_p.S124L NM_001039350.1|NM_001936.3|NM_130797.2 NP_001034439.1|NP_001927.3|NP_570629.2 P42658 DPP6_HUMAN dipeptidyl-peptidase 6 186 cell death|proteolysis integral to membrane dipeptidyl-peptidase activity|serine-type peptidase activity NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 71 all_neural(206;0.181) all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204) OV - Ovarian serous cystadenocarcinoma(82;0.0562) TTTTAGGAATCATTAAGAGCC 0.303000 5 43 0 0 1 0 0 ANK3 288 broad.mit.edu 37 10 61834521 61834521 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:61834521C>T ENST00000280772.1 - 37 6309 c.6118G>A c.(6118-6120)Gat>Aat p.D2040N ANK3_ENST00000355288.2_Intron|ANK3_ENST00000503366.1_Intron|ANK3_ENST00000373827.2_Intron NM_020987.3 NP_066267.2 Q12955 ANK3_HUMAN ankyrin 3, node of Ranvier (ankyrin G) 2040 establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 196 CTCCCAATATCATTTGTTAGG 0.398000 64 127 0 0 1 0 0 TBX19 9095 broad.mit.edu 37 1 168260616 168260616 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:168260616C>T ENST00000367821.3 + 2 473 c.422C>T c.(421-423)tCc>tTc p.S141F NM_005149.2 NP_005140.1 O60806 TBX19_HUMAN T-box 19 141 anatomical structure morphogenesis nucleus DNA binding NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(11)|prostate(2)|skin(2)|urinary_tract(1) 34 all_hematologic(923;0.215) GCTCCCATCTCCTTCAGCAAA 0.627000 99 227 0 0 1 0 0 HTR2C 3358 broad.mit.edu 37 X 114141243 114141243 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chrX:114141243C>T ENST00000371950.3 + 6 1271 c.547C>T c.(547-549)Cgt>Tgt p.R183C HTR2C_ENST00000276198.1_Silent_p.F214F|HTR2C_ENST00000371951.1_Silent_p.F214F NM_001256761.1 NP_001243690.1 P28335 5HT2C_HUMAN 5-hydroxytryptamine (serotonin) receptor 2C, G protein-coupled 0 cGMP biosynthetic process|ERK1 and ERK2 cascade|feeding behavior|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission cytoplasm|integral to membrane|nucleus|plasma membrane 1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|protein binding|serotonin binding|serotonin receptor activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 50 Chlorprothixene(DB01239)|Clozapine(DB00363)|Dexfenfluramine(DB01191)|Fenfluramine(DB00574)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Tramadol(DB00193)|Ziprasidone(DB00246) ACCCAAATTTCGTTCTTATTG 0.468000 178 71 0 0 1 0 0 VCAM1 7412 broad.mit.edu 37 1 101186269 101186269 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:101186269C>T ENST00000294728.2 + 2 403 c.302C>T c.(301-303)tCt>tTt p.S101F VCAM1_ENST00000370119.4_Intron|VCAM1_ENST00000370115.1_Missense_Mutation_p.S101F|VCAM1_ENST00000347652.2_Missense_Mutation_p.S101F NM_001078.3 NP_001069.1 P19320 VCAM1_HUMAN vascular cell adhesion molecule 1 101 Ig-like C2-type 1. heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome cell adhesion molecule binding|integrin binding central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 56 all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011) Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196) Carvedilol(DB01136) ACTTGTGAATCTAGGAAATTG 0.378000 45 55 0 0 1 0 0 AOC1 26 broad.mit.edu 37 7 150553831 150553831 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:150553831G>A ENST00000493429.1 + 4 857 c.273G>A c.(271-273)agG>agA p.R91R AOC1_ENST00000467291.1_Silent_p.R91R|AOC1_ENST00000416793.2_Silent_p.R91R|AOC1_ENST00000360937.4_Silent_p.R91R amine oxidase, copper containing 1 AAGGTGAAAGGCATCCTGTGC 0.567000 66 222 0 0 1 0 0 ZNF646 9726 broad.mit.edu 37 16 31088560 31088560 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr16:31088560C>T ENST00000394979.2 + 1 1338 c.915C>T c.(913-915)ctC>ctT p.L305L ZNF646_ENST00000300850.5_Silent_p.L305L O15015 ZN646_HUMAN zinc finger protein 646 305 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3) 49 TCTTCCGGCTCCCCCGGGAGC 0.602000 5 81 0 0 1 0 0 PCDHB3 56132 broad.mit.edu 37 5 140481027 140481027 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:140481027C>T ENST00000231130.2 + 1 794 c.794C>T c.(793-795)tCg>tTg p.S265L AC005754.7_ENST00000607216.1_RNA NM_018937.2 NP_061760.1 Q9Y5E6 PCDB3_HUMAN 265 Cadherin 3. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 72 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GTCACTGTCTCGGCTTCTGAC 0.393000 50 104 0 0 1 0 0 ATL1 51062 broad.mit.edu 37 14 51060597 51060597 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr14:51060597G>A ENST00000441560.2 + 6 1037 c.556G>A c.(556-558)Gat>Aat p.D186N ATL1_ENST00000354525.4_Missense_Mutation_p.D186N|ATL1_ENST00000358385.6_Missense_Mutation_p.D186N|ATL1_ENST00000357032.3_Missense_Mutation_p.D186N NM_001127713.1 NP_001121185.1 Q8WXF7 ATLA1_HUMAN atlastin GTPase 1 186 axonogenesis|cell death|endoplasmic reticulum organization|protein homooligomerization axon|endoplasmic reticulum membrane|Golgi cis cisterna|Golgi membrane|integral to membrane|microsome GTP binding|GTPase activity|identical protein binding central_nervous_system(1)|cervix(2)|large_intestine(4)|liver(1)|lung(6)|ovary(1)|skin(3) 18 CCAGGAGGATGATCTTCAGCA 0.323000 23 52 0 0 1 0 0 CYP4X1 260293 broad.mit.edu 37 1 47515123 47515123 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:47515123G>A ENST00000371901.3 + 11 1552 c.1302G>A c.(1300-1302)gaG>gaA p.E434E CYP4X1_ENST00000538609.1_Silent_p.E433E NM_178033.1 NP_828847.1 Q8N118 CP4X1_HUMAN cytochrome P450, family 4, subfamily X, polypeptide 1 434 endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(1) 17 TCTCTCAGGAGAATTCTGATC 0.453000 29 92 0 0 1 0 0 KRT10 3858 broad.mit.edu 37 17 38976830 38976830 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:38976830G>A ENST00000269576.5 - 3 809 c.800C>T c.(799-801)gCt>gTt p.A267V TMEM99_ENST00000496847.1_Intron|TMEM99_ENST00000301665.3_Intron NM_000421.3 NP_000412.3 P13645 K1C10_HUMAN keratin 10 267 Coil 1B.|Gly-rich.|Rod. epidermis development protein binding|structural constituent of epidermis NS(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1) 11 Breast(137;0.000301) CTCCAGGTCAGCCTTGGTCAG 0.522000 58 130 0 0 1 0 0 MSLNL 401827 broad.mit.edu 37 16 832030 832030 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr16:832030G>A ENST00000293892.3 - 2 92 c.93C>T c.(91-93)ccC>ccT p.P31P MSLNL_ENST00000442466.1_Intron Q96KJ4 MSLNL_HUMAN mesothelin-like 0 cell adhesion integral to membrane breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(15)|ovary(2)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2) 36 GGAAGGTGCTGGGGCCAAGGG 0.662000 7 18 0 0 1 0 0 MYH15 22989 broad.mit.edu 37 3 108158742 108158742 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:108158742C>T ENST00000273353.3 - 25 3033 c.2977G>A c.(2977-2979)Gaa>Aaa p.E993K NM_014981.1 NP_055796.1 Q9Y2K3 MYH15_HUMAN myosin, heavy chain 15 993 myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 105 AACTCTACTTCCTCAGTCAAG 0.478000 35 92 0 0 1 0 0 GRIK2 2898 broad.mit.edu 37 6 102074477 102074477 + Nonsense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:102074477G>A ENST00000369138.1 + 3 996 c.506G>A c.(505-507)tGg>tAg p.W169* GRIK2_ENST00000318991.6_Nonsense_Mutation_p.W169*|GRIK2_ENST00000369134.4_Nonsense_Mutation_p.W120*|GRIK2_ENST00000421544.1_Nonsense_Mutation_p.W169*|GRIK2_ENST00000369137.3_Nonsense_Mutation_p.W169*|GRIK2_ENST00000413795.1_Nonsense_Mutation_p.W169*|GRIK2_ENST00000358361.3_Nonsense_Mutation_p.W169* NM_001166247.1 NP_001159719.1 Q13002 GRIK2_HUMAN glutamate receptor, ionotropic, kainate 2 169 glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity cell junction|postsynaptic membrane extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 83 all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14) all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206) L-Glutamic Acid(DB00142) TTTTTCAAGTGGAAAACCGTC 0.418000 29 74 0 0 1 0 0 ZNF112 7665 broad.mit.edu 37 19 44844587 44844587 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:44844587G>A ENST00000354340.4 - 2 156 c.105C>T c.(103-105)ttC>ttT p.F35F ZNF112_ENST00000337401.4_Silent_p.F41F|CTC-512J12.6_ENST00000588212.1_Silent_p.F40F|ZNF112_ENST00000536500.1_Silent_p.F58F NM_013380.3 NP_037512.3 zinc finger protein 112 GCAGGTTCCTGAAGTTCTCCA 0.512000 5 213 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9020004 9020004 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:9020004C>T ENST00000397910.4 - 21 37694 c.37491G>A c.(37489-37491)agG>agA p.R12497R NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 12499 SEA 3. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 AGAGACTGTTCCTGTCCAGGG 0.517000 131 255 0 0 1 0 0 FBXO40 51725 broad.mit.edu 37 3 121341707 121341707 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:121341707C>T ENST00000338040.4 + 3 1845 c.1431C>T c.(1429-1431)ttC>ttT p.F477F NM_016298.3 NP_057382.2 Q9UH90 FBX40_HUMAN F-box protein 40 477 muscle cell differentiation centrosome|nucleus ubiquitin-protein ligase activity|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(11)|lung(19)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 46 GBM - Glioblastoma multiforme(114;0.189) CCTTCACTTTCACTTGCAACA 0.532000 22 37 0 0 1 0 0 SARDH 1757 broad.mit.edu 37 9 136550357 136550357 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:136550357G>A ENST00000371872.4 - 17 2378 c.2121C>T c.(2119-2121)ttC>ttT p.F707F SARDH_ENST00000371868.1_Silent_p.F135F|SARDH_ENST00000439388.1_Silent_p.F707F|SARDH_ENST00000422262.2_Silent_p.F539F NM_007101.3 NP_009032.2 Q9UL12 SARDH_HUMAN sarcosine dehydrogenase 707 glycine catabolic process mitochondrial matrix aminomethyltransferase activity|sarcosine dehydrogenase activity central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3) 44 OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05) TGGAGAACGGGAAGGCCTCGT 0.632000 18 47 0 0 1 0 0 CSMD1 64478 broad.mit.edu 37 8 3047580 3047580 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:3047580C>T ENST00000602557.1 - 35 5810 c.5255G>A c.(5254-5256)aGg>aAg p.R1752K CSMD1_ENST00000602723.1_Missense_Mutation_p.R1752K|CSMD1_ENST00000537824.1_Missense_Mutation_p.R1751K|CSMD1_ENST00000400186.3_Missense_Mutation_p.R1752K|CSMD1_ENST00000539096.1_Missense_Mutation_p.R1751K|CSMD1_ENST00000523387.1_5'UTR|CSMD1_ENST00000542608.1_Missense_Mutation_p.R1751K|CSMD1_ENST00000520002.1_Missense_Mutation_p.R1752K Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 1752 Sushi 10. integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) ACCAATTCTCCTTCCGTATCT 0.562000 5 8 0 0 1 0 0 SLC30A8 169026 broad.mit.edu 37 8 118184801 118184801 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:118184801C>T ENST00000427715.2 + 11 1278 c.844C>T c.(844-846)Cgg>Tgg p.R282W SLC30A8_ENST00000456015.2_Missense_Mutation_p.R331W|SLC30A8_ENST00000519688.1_Missense_Mutation_p.R282W|SLC30A8_ENST00000521243.1_Missense_Mutation_p.R282W NM_001172813.1|NM_001172815.1 NP_001166284.1|NP_001166286.1 Q8IWU4 ZNT8_HUMAN solute carrier family 30 (zinc transporter), member 8 331 insulin secretion|positive regulation of insulin secretion|regulation of sequestering of zinc ion|regulation of vesicle-mediated transport|response to glucose stimulus|sequestering of zinc ion integral to membrane|plasma membrane|secretory granule membrane|transport vesicle membrane protein homodimerization activity|zinc ion transmembrane transporter activity breast(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(18)|ovary(2)|pancreas(2)|skin(5) 41 all_cancers(13;2.11e-22)|Lung NSC(37;6.08e-05)|Ovarian(258;0.0173) STAD - Stomach adenocarcinoma(47;0.203) CCAAGTGGTTCGGAGAGAAAT 0.507000 64 120 0 0 1 0 0 OR4A15 81328 broad.mit.edu 37 11 55135858 55135858 + Nonsense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:55135858C>T ENST00000314706.3 + 1 499 c.499C>T c.(499-501)Cga>Tga p.R167* NM_001005275.1 NP_001005275.1 Q8NGL6 O4A15_HUMAN olfactory receptor, family 4, subfamily A, member 15 167 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.R167R(1) NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 71 CATGAATCGTCGAGTCTGTGT 0.438000 105 235 0 0 1 0 0 CXorf36 79742 broad.mit.edu 37 X 45051114 45051114 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chrX:45051114C>T ENST00000398000.2 - 2 454 c.380G>A c.(379-381)aGg>aAg p.R127K CXorf36_ENST00000477281.1_5'UTR|RP11-342D14.1_ENST00000438181.1_RNA|RP11-342D14.1_ENST00000450527.1_RNA|CXorf36_ENST00000377934.4_Missense_Mutation_p.R127K NM_176819.3 NP_789789.2 Q9H7Y0 CX036_HUMAN chromosome X open reading frame 36 127 extracellular region endometrium(1)|large_intestine(2)|lung(4) 7 ACAGATTCTCCTGTCTGAGAT 0.493000 49 25 0 0 1 0 0 SLC4A8 9498 broad.mit.edu 37 12 51899696 51899696 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:51899696G>A ENST00000453097.2 + 24 3468 c.3251G>A c.(3250-3252)gGa>gAa p.G1084E NM_001039960.2|NM_001258401.2 NP_001035049.1|NP_001245330.1 Q2Y0W8 S4A8_HUMAN solute carrier family 4, sodium bicarbonate cotransporter, member 8 1084 bicarbonate transport|sodium ion transport integral to membrane|plasma membrane inorganic anion exchanger activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(18)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(2)|urinary_tract(5) 55 BRCA - Breast invasive adenocarcinoma(357;0.15) ATGAATTCTGGAAATGCAAAG 0.338000 6 15 0 0 1 0 0 OR5B12 390191 broad.mit.edu 37 11 58206881 58206881 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:58206881G>A ENST00000302572.2 - 1 765 c.744C>T c.(742-744)atC>atT p.I248I NM_001004733.2 NP_001004733.1 Q96R08 OR5BC_HUMAN olfactory receptor, family 5, subfamily B, member 12 248 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.I248I(1) large_intestine(6)|liver(1)|lung(28)|ovary(1)|prostate(3)|skin(1) 40 Esophageal squamous(5;0.0027) Breast(21;0.0778) TCCCATAAAAGATGGAAACTG 0.433000 35 47 0 0 1 0 0 SMC2 10592 broad.mit.edu 37 9 106873862 106873862 + Splice_Site SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:106873862G>A ENST00000286398.7 + 10 1309 c.1020_splice c.e10-1 p.D341_splice SMC2_ENST00000374793.3_Splice_Site_p.D341_splice|SMC2_ENST00000374787.3_Splice_Site_p.D341_splice|SMC2_ENST00000303219.8_Splice_Site_p.D341_splice NM_001042551.1|NM_001265602.1|NM_006444.2 NP_001036016.1|NP_001252531.1|NP_006435.2 O95347 SMC2_HUMAN structural maintenance of chromosomes 2 341 cell division|mitotic chromosome condensation|symbiosis, encompassing mutualism through parasitism condensin complex|cytoplasm|nuclear chromosome ATP binding|protein heterodimerization activity breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(14)|ovary(5)|prostate(4)|skin(2)|upper_aerodigestive_tract(2) 48 CTTCCTAAAGGACTCAAAAAC 0.348000 20 37 0 0 1 0 0 OBSCN 84033 broad.mit.edu 37 1 228494623 228494623 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:228494623G>A ENST00000570156.2 + 56 14893 c.14819G>A c.(14818-14820)cGa>cAa p.R4940Q OBSCN_ENST00000284548.11_Missense_Mutation_p.R3983Q|OBSCN_ENST00000366707.4_Missense_Mutation_p.R1617Q|OBSCN_ENST00000422127.1_Missense_Mutation_p.R3983Q|OBSCN_ENST00000366709.4_Missense_Mutation_p.R1102Q NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 3983 Ig-like 48. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding p.R4565Q(1) NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) CGGTTCCTCCGAGAGCTGCAG 0.652000 8 7 0 0 1 0 0 KDM6B 23135 broad.mit.edu 37 17 7749434 7749434 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:7749434C>T ENST00000254846.5 + 6 664 c.275C>T c.(274-276)tCc>tTc p.S92F KDM6B_ENST00000448097.2_Missense_Mutation_p.S92F NM_001080424.1 NP_001073893.1 O15054 KDM6B_HUMAN lysine (K)-specific demethylase 6B 92 inflammatory response nucleus metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5) 37 AAGCTGGAATCCCTGCATGGC 0.622000 13 41 0 0 1 0 0 HMMR 3161 broad.mit.edu 37 5 162917558 162917558 + Splice_Site SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:162917558G>A ENST00000416990.2 + 17 2277 c.1780_splice c.e17+1 p.G594_splice HMMR_ENST00000353866.3_Splice_Site_p.G693_splice|HMMR_ENST00000432118.2_Splice_Site_p.G622_splice|HMMR_ENST00000393915.4_Splice_Site_p.G709_splice|RP11-80G7.1_ENST00000514724.2_RNA|RP11-80G7.1_ENST00000521666.1_RNA|HMMR_ENST00000358715.3_Splice_Site_p.G708_splice O75330 HMMR_HUMAN hyaluronan-mediated motility receptor (RHAMM) 708 cell surface|cytoplasm hyaluronic acid binding cervix(1)|kidney(3)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(1) 23 Renal(175;0.000281) Medulloblastoma(196;0.00853)|all_neural(177;0.0408) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0296)|OV - Ovarian serous cystadenocarcinoma(192;0.0423)|Epithelial(171;0.0848) ATTAAAAGAAGGTAAGACATG 0.318000 39 107 0 0 1 0 0 DIAPH2 1730 broad.mit.edu 37 X 96185815 96185815 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chrX:96185815C>T ENST00000324765.8 + 10 1409 c.1062C>T c.(1060-1062)ctC>ctT p.L354L DIAPH2_ENST00000373049.4_Silent_p.L354L|DIAPH2_ENST00000373061.3_Silent_p.L354L|DIAPH2_ENST00000373054.4_Silent_p.L350L|DIAPH2_ENST00000355827.4_Silent_p.L354L O60879 DIAP2_HUMAN diaphanous-related formin 2 354 GBD/FH3. cell differentiation|cytokinesis|multicellular organismal development|oogenesis cytosol|early endosome|Golgi apparatus|mitochondrion|nucleolus receptor binding|Rho GTPase binding breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 51 ATGAATTCCTCCGTTCAGGAC 0.333000 23 12 0 0 1 0 0 CACNA2D3 55799 broad.mit.edu 37 3 54913431 54913431 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:54913431C>T ENST00000474759.1 + 20 1885 c.1837C>T c.(1837-1839)Cct>Tct p.P613S CACNA2D3_ENST00000490478.1_Missense_Mutation_p.P519S|CACNA2D3-AS1_ENST00000471265.1_RNA|CACNA2D3_ENST00000288197.5_Missense_Mutation_p.P613S|CACNA2D3_ENST00000415676.2_Missense_Mutation_p.P613S NM_018398.2 NP_060868.2 Q8IZS8 CA2D3_HUMAN calcium channel, voltage-dependent, alpha 2/delta subunit 3 613 integral to membrane calcium channel activity|metal ion binding|voltage-gated ion channel activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3) 59 KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327) CAAGGGTACTCCTTTCAGGTA 0.383000 12 25 0 0 1 0 0 WBSCR17 64409 broad.mit.edu 37 7 71177042 71177042 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:71177042G>A ENST00000333538.5 + 11 2342 c.1708G>A c.(1708-1710)Gag>Aag p.E570K WBSCR17_ENST00000498380.2_3'UTR NM_022479.1 NP_071924.1 Q6IS24 GLTL3_HUMAN Williams-Beuren syndrome chromosome region 17 570 Ricin B-type lectin. Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 100 all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125) ACGCTGCCTGGAGGTGGAGAA 0.587000 79 137 0 0 1 0 0 SLC6A2 6530 broad.mit.edu 37 16 55705805 55705805 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr16:55705805G>A ENST00000567238.1 + 1 223 c.47G>A c.(46-48)gGg>gAg p.G16E SLC6A2_ENST00000379906.2_Intron|SLC6A2_ENST00000561820.1_Intron|SLC6A2_ENST00000219833.8_Intron|SLC6A2_ENST00000414754.3_Intron|SLC6A2_ENST00000568943.1_Intron|SLC6A2_ENST00000566163.1_Intron NM_001172502.1 NP_001165973.1 P23975 SC6A2_HUMAN solute carrier family 6 (neurotransmitter transporter), member 2 0 synaptic transmission integral to plasma membrane|membrane fraction norepinephrine:sodium symporter activity breast(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(3)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(1) 41 BRCA - Breast invasive adenocarcinoma(181;0.01)|Kidney(780;0.0267) Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Atomoxetine(DB00289)|Bethanidine(DB00217)|Bupropion(DB01156)|Clomipramine(DB01242)|Cocaine(DB00907)|Debrisoquin(DB04840)|Desipramine(DB01151)|Diethylpropion(DB00937)|Doxepin(DB01142)|Duloxetine(DB00476)|Ergotamine(DB00696)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Imipramine(DB00458)|Maprotiline(DB00934)|Mazindol(DB00579)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Protriptyline(DB00344)|Reboxetine(DB00234)|Sibutramine(DB01105)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285) GTGGCTGTGGGGCTGGGCCTG 0.597000 12 12 0 0 1 0 0 FASN 2194 broad.mit.edu 37 17 80038731 80038731 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:80038731G>A ENST00000306749.2 - 39 6881 c.6663C>T c.(6661-6663)tcC>tcT p.S2221S FASN_ENST00000579758.1_Intron NM_004104.4 NP_004095.4 P49327 FAS_HUMAN fatty acid synthase 2221 Thioesterase (By similarity). energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process cytosol|Golgi apparatus|melanosome|plasma membrane 3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1) 34 all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246) OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237) Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339) TCACCAGCAGGGAGCGCAGGT 0.662000 7 43 0 0 1 0 0 EHBP1L1 254102 broad.mit.edu 37 11 65350396 65350396 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:65350396C>T ENST00000309295.4 + 9 2518 c.2253C>T c.(2251-2253)gcC>gcT p.A751A NM_001099409.1 NP_001092879.1 Q8N3D4 EH1L1_HUMAN EH domain binding protein 1-like 1 751 Glu-rich. central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 23 TATTGGTAGCCCAGGAGATAG 0.498000 15 52 0 0 1 0 0 ZNF568 374900 broad.mit.edu 37 19 37488163 37488163 + Nonsense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:37488163C>T ENST00000455427.2 + 9 1707 c.1378C>T c.(1378-1380)Cga>Tga p.R460* NM_001204839.1 NP_001191768.1 Q3ZCX4 ZN568_HUMAN zinc finger protein 568 547 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(9)|ovary(1) 29 Esophageal squamous(110;0.183) COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) ACATCTTATTCGACATCAGAG 0.453000 8 25 0 0 1 0 0 SFTPD 6441 broad.mit.edu 37 10 81706268 81706268 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:81706268G>A ENST00000372292.3 - 2 188 c.148C>T c.(148-150)Cgc>Tgc p.R50C NM_003019.4 NP_003010.4 P35247 SFTPD_HUMAN surfactant protein D 50 Collagen-like. cell junction assembly|innate immune response|lung alveolus development|macrophage chemotaxis|negative regulation of interleukin-2 biosynthetic process|negative regulation of T cell proliferation|positive regulation of phagocytosis|reactive oxygen species metabolic process|receptor-mediated endocytosis|respiratory gaseous exchange|surfactant homeostasis collagen|endocytic vesicle|extracellular space|lysosome bacterial cell surface binding|protein binding|sugar binding endometrium(1)|kidney(3)|large_intestine(5)|lung(3)|skin(4)|urinary_tract(1) 17 Breast(12;0.000615)|Prostate(51;0.0095)|all_epithelial(25;0.027) Epithelial(14;0.0244)|all cancers(16;0.0558)|Colorectal(32;0.109) CGTCCATCGCGACCAGGCAGG 0.617000 40 61 0 0 1 0 0 PITX1 5307 broad.mit.edu 37 5 134367080 134367080 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:134367080G>A ENST00000265340.7 - 2 704 c.288C>T c.(286-288)ttC>ttT p.F96F PITX1_ENST00000506438.1_Silent_p.F96F NM_002653.4 NP_002644.4 P78337 PITX1_HUMAN paired-like homeodomain 1 96 nucleolus sequence-specific DNA binding central_nervous_system(1)|cervix(3)|endometrium(3)|large_intestine(1)|lung(5)|ovary(1) 14 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) READ - Rectum adenocarcinoma(2;0.0607) GCTGGCTTGTGAAGTGCGTAC 0.642000 30 61 0 0 1 0 0 NSUN5 55695 broad.mit.edu 37 7 72717889 72717889 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:72717889G>A ENST00000428206.1 - 8 978 c.965C>T c.(964-966)tCc>tTc p.S322F NSUN5_ENST00000438747.2_Missense_Mutation_p.S360F|NSUN5_ENST00000310326.8_Missense_Mutation_p.S360F|NSUN5_ENST00000252594.6_Missense_Mutation_p.S360F NM_001168348.1 NP_001161820.1 Q96P11 NSUN5_HUMAN NOP2/Sun domain family, member 5 360 methyltransferase activity breast(1)|endometrium(3)|large_intestine(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 8 Lung NSC(55;0.163) CTGGCAGAGGGAGCACGTGGA 0.677000 19 51 0 0 1 0 0 SFTA3 253970 broad.mit.edu 37 14 36960481 36960481 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr14:36960481C>T ENST00000518529.2 - 2 733 c.58G>A c.(58-60)Gat>Aat p.D20N RP11-896J10.3_ENST00000521945.1_RNA|SFTA3_ENST00000518987.1_5'UTR NM_001101341.1 NP_001094811.1 P0C7M3 SFTA3_HUMAN surfactant associated 3 20 breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|skin(1) 7 TGTGCCTGATCCTGAAGAAAA 0.388000 7 7 0 0 1 0 0 PBX1 5087 broad.mit.edu 37 1 164789352 164789352 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:164789352C>T ENST00000420696.2 + 7 1229 c.1041C>T c.(1039-1041)ttC>ttT p.F347F PBX1_ENST00000559240.1_Intron|PBX1_ENST00000540236.1_Silent_p.F347F|PBX1_ENST00000540246.1_Silent_p.F242F|PBX1_ENST00000367897.1_Intron|PBX1_ENST00000401534.1_Intron|PBX1_ENST00000560641.1_Silent_p.F242F NM_001204961.1|NM_001204963.1|NM_002585.3 NP_001191890.1|NP_001191892.1|NP_002576.1 P40424 PBX1_HUMAN pre-B-cell leukemia homeobox 1 347 negative regulation of sequence-specific DNA binding transcription factor activity|sex differentiation|steroid biosynthetic process cytoplasm|nucleus sequence-specific DNA binding transcription factor activity|transcription factor binding EWSR1/PBX1(3) large_intestine(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1) 4 GAGATTTGTTCATGAGCGTGC 0.498000 T """TCF3, EWSR1""" """pre B-ALL, myoepithelioma""" 75 87 0 0 1 0 0 OR14A16 284532 broad.mit.edu 37 1 247978630 247978630 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:247978630C>T ENST00000357627.1 - 1 401 c.402G>A c.(400-402)atG>atA p.M134I NM_001001966.1 NP_001001966.1 Q8NHC5 O14AG_HUMAN olfactory receptor, family 14, subfamily A, member 16 134 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(32)|skin(2)|stomach(1) 45 TGCTCCTGTCCATGATGACAT 0.512000 63 186 0 0 1 0 0 DSG1 1828 broad.mit.edu 37 18 28898242 28898242 + Translation_Start_Site SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr18:28898242G>A ENST00000257192.4 + 0 191 NM_001942.2 NP_001933.2 Q02413 DSG1_HUMAN desmoglein 1 calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization cytosol|desmosome|integral to membrane|internal side of plasma membrane calcium ion binding|gamma-catenin binding|toxin binding NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1) 76 OV - Ovarian serous cystadenocarcinoma(10;0.00559) CTTGGTCTTGGATGTAAGAGA 0.388000 40 84 0 0 1 0 0 B3GALT2 8707 broad.mit.edu 37 1 193149676 193149676 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:193149676C>T ENST00000367434.4 - 2 1772 c.1017G>A c.(1015-1017)ttG>ttA p.L339L CDC73_ENST00000367435.3_Intron NM_003783.3 NP_003774.1 O43825 B3GT2_HUMAN UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 2 339 protein glycosylation Golgi membrane|integral to membrane UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|ovary(2) 16 ATACATCTTCCAAGTGCAAAC 0.418000 48 60 0 0 1 0 0 BAGE2 85319 broad.mit.edu 37 21 11039148 11039148 + RNA SNP C C T rs71292113 TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr21:11039148C>T ENST00000470054.1 - 0 1055 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) GAAGTGCTTTCCTCATGTGGG 0.403000 27 571 0 0 1 0 0 OR5M9 390162 broad.mit.edu 37 11 56230572 56230572 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:56230572G>A ENST00000279791.1 - 1 305 c.306C>T c.(304-306)ttC>ttT p.F102F NM_001004743.1 NP_001004743.1 Q8NGP3 OR5M9_HUMAN olfactory receptor, family 5, subfamily M, member 9 102 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2) 36 Esophageal squamous(21;0.00448) CAACGGCAATGAAAAAGTAGC 0.468000 48 91 0 0 1 0 0 BTN2A1 11120 broad.mit.edu 37 6 26468635 26468635 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:26468635C>T ENST00000312541.5 + 8 1690 c.1442C>T c.(1441-1443)tCc>tTc p.S481F BTN2A1_ENST00000429381.1_3'UTR|BTN2A1_ENST00000541522.1_Missense_Mutation_p.S420F|BTN2A1_ENST00000469185.1_Intron NM_007049.3|NM_078476.2 NP_008980.1|NP_510961.1 Q7KYR7 BT2A1_HUMAN butyrophilin, subfamily 2, member A1 481 B30.2/SPRY. lipid metabolic process integral to plasma membrane breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(3) 27 TCAGCCTTTTCCGTGCCTGTG 0.572000 58 187 0 0 1 0 0 GCSAML 148823 broad.mit.edu 37 1 247712513 247712513 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:247712513G>A ENST00000366491.2 + 4 517 c.20G>A c.(19-21)cGa>cAa p.R7Q GCSAML_ENST00000366488.4_Missense_Mutation_p.R7Q|GCSAML_ENST00000536561.1_Missense_Mutation_p.R7Q|GCSAML_ENST00000527541.1_Intron|GCSAML_ENST00000366489.1_Missense_Mutation_p.R7Q|GCSAML_ENST00000527084.1_Intron|GCSAML_ENST00000366490.3_Missense_Mutation_p.E128K|GCSAML_ENST00000463359.1_Intron germinal center-associated, signaling and motility-like TATCTCCTGCGAAAACTCAGG 0.463000 26 83 0 0 1 0 0 P2RY12 64805 broad.mit.edu 37 3 151056332 151056332 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:151056332G>A ENST00000302632.3 - 3 601 c.302C>T c.(301-303)tCc>tTc p.S101F MED12L_ENST00000491549.1_Intron|MED12L_ENST00000273432.4_Intron|MED12L_ENST00000474524.1_Intron NM_022788.4|NM_176876.2 NP_073625.1|NP_795345.1 Q9H244 P2Y12_HUMAN purinergic receptor P2Y, G-protein coupled, 12 101 platelet activation integral to membrane|plasma membrane guanyl-nucleotide exchange factor activity breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1) 17 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) Clopidogrel(DB00758)|Epoprostenol(DB01240)|Ticlopidine(DB00208)|Treprostinil(DB00374) AAATATGACGGAGGTAACTTG 0.383000 29 97 0 0 1 0 0 KRT5 3852 broad.mit.edu 37 12 52913674 52913674 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:52913674G>A ENST00000252242.4 - 1 797 c.407C>T c.(406-408)cCt>cTt p.P136L NM_000424.3 NP_000415.2 P13647 K2C5_HUMAN keratin 5 136 Gly-rich.|Head. epidermis development|hemidesmosome assembly cytosol|keratin filament protein binding|structural constituent of cytoskeleton endometrium(5)|kidney(1)|large_intestine(8)|lung(15)|prostate(4)|skin(2) 35 BRCA - Breast invasive adenocarcinoma(357;0.189) ACCTCCAGGAGGGCAGACAGG 0.617000 42 75 0 0 1 0 0 DAPK1 1612 broad.mit.edu 37 9 90321180 90321180 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:90321180C>T ENST00000469640.2 + 27 3644 c.3269C>T c.(3268-3270)aCc>aTc p.T1090I DAPK1_ENST00000358077.5_Missense_Mutation_p.T1065I|DAPK1_ENST00000491893.1_Missense_Mutation_p.T999I|DAPK1_ENST00000408954.3_Missense_Mutation_p.T1065I|DAPK1_ENST00000472284.1_Missense_Mutation_p.T1065I P53355 DAPK1_HUMAN death-associated protein kinase 1 1065 apoptosis|induction of apoptosis by extracellular signals|intracellular protein kinase cascade actin cytoskeleton|cytoplasm ATP binding|calmodulin binding|protein serine/threonine kinase activity breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1) 72 GGCCGCTACACCGTGGAGGAC 0.682000 Chronic Lymphocytic Leukemia, Familial Clustering of 7 37 0 0 1 0 0 VCAN 1462 broad.mit.edu 37 5 82836945 82836945 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:82836945G>A ENST00000265077.3 + 8 8688 c.8123G>A c.(8122-8124)gGa>gAa p.G2708E VCAN_ENST00000502527.2_Intron|VCAN_ENST00000512590.2_Intron|VCAN_ENST00000342785.4_Intron|VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000343200.5_Missense_Mutation_p.G1721E NM_004385.4 NP_004376.2 P13611 CSPG2_HUMAN versican 2708 GAG-beta. cell adhesion|cell recognition|glial cell migration extracellular space|proteinaceous extracellular matrix calcium ion binding|hyaluronic acid binding|sugar binding NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 190 Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142) OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29) GAGATTGAAGGAATAAAAGCT 0.428000 46 87 0 0 1 0 0 DNAH9 1770 broad.mit.edu 37 17 11520792 11520792 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:11520792G>A ENST00000262442.3 + 5 1037 c.969G>A c.(967-969)ctG>ctA p.L323L DNAH9_ENST00000579406.1_3'UTR|DNAH9_ENST00000454412.2_Silent_p.L323L NM_001372.3 NP_001363.2 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 323 Stem (By similarity). cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4) 290 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) TGGAAGCTCTGGAGAATGCAG 0.587000 23 52 0 0 1 0 0 RNF217 154214 broad.mit.edu 37 6 125366414 125366414 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:125366414G>A ENST00000521654.2 + 2 940 c.940G>A c.(940-942)Gaa>Aaa p.E314K RNF217_ENST00000368414.2_5'UTR|RNF217_ENST00000560949.1_Missense_Mutation_p.E79K|RNF217_ENST00000359704.2_Missense_Mutation_p.E22K|RNF217_ENST00000454842.2_3'UTR Q8TC41 RN217_HUMAN ring finger protein 217 22 protein ubiquitination involved in ubiquitin-dependent protein catabolic process integral to membrane ubiquitin-protein ligase activity|zinc ion binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(1) 11 LUSC - Lung squamous cell carcinoma(4;0.0263)|Lung(4;0.0828) GBM - Glioblastoma multiforme(226;0.0162) TGAATTCTTGGAAGAAACAAC 0.423000 32 91 0 0 1 0 0 ANKRD36BP2 645784 broad.mit.edu 37 2 89100553 89100553 + RNA SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:89100553C>T ENST00000393525.3 + 0 1089 tgtatcttttcctGCTGTCTC 0.343000 4 33 0 0 1 0 0 APP 351 broad.mit.edu 37 21 27269960 27269960 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr21:27269960C>T ENST00000358918.3 - 15 2134 c.1935G>A c.(1933-1935)acG>acA p.T645T APP_ENST00000357903.3_Silent_p.T644T|APP_ENST00000348990.5_Silent_p.T588T|APP_ENST00000439274.2_Silent_p.T607T|APP_ENST00000448388.2_Silent_p.T553T|APP_ENST00000354192.3_Silent_p.T532T|APP_ENST00000359726.3_Silent_p.T607T|APP_ENST00000440126.3_Silent_p.T639T|APP_ENST00000346798.3_Silent_p.T663T NM_001204301.1|NM_001204302.1 NP_001191230.1|NP_001191231.1 P05067 A4_HUMAN amyloid beta (A4) precursor protein 663 adult locomotory behavior|axon cargo transport|axon midline choice point recognition|cell adhesion|cellular copper ion homeostasis|collateral sprouting in absence of injury|dendrite development|endocytosis|extracellular matrix organization|G2 phase of mitotic cell cycle|innate immune response|ionotropic glutamate receptor signaling pathway|mating behavior|mRNA polyadenylation|neuron apoptosis|neuron remodeling|Notch signaling pathway|platelet activation|platelet degranulation|positive regulation of mitotic cell cycle|protein phosphorylation|regulation of epidermal growth factor receptor activity|regulation of multicellular organism growth|regulation of synapse structure and activity|regulation of translation|visual learning axon|cell surface|coated pit|dendritic shaft|dendritic spine|extracellular region|Golgi apparatus|integral to plasma membrane|platelet alpha granule lumen acetylcholine receptor binding|DNA binding|heparin binding|identical protein binding|metal ion binding|protein binding|PTB domain binding|serine-type endopeptidase inhibitor activity endometrium(5)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 22 Breast(209;0.00295) AGATCTCCTCCGTCTTGATAT 0.338000 37 126 0 0 1 0 0 RGS3 5998 broad.mit.edu 37 9 116346374 116346374 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:116346374G>A ENST00000374140.2 + 21 2891 c.2682G>A c.(2680-2682)ggG>ggA p.G894G RGS3_ENST00000462143.1_Silent_p.G215G|RGS3_ENST00000343817.5_Silent_p.G613G|RGS3_ENST00000342620.5_Intron|RP11-168K11.2_ENST00000428429.1_RNA|RGS3_ENST00000374134.3_Silent_p.G215G|RGS3_ENST00000350696.5_Silent_p.G894G|RGS3_ENST00000394646.3_Intron NM_144488.4 NP_652759.3 P49796 RGS3_HUMAN regulator of G-protein signaling 3 894 inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway cytosol|nucleus|plasma membrane GTPase activator activity|signal transducer activity cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 48 gggaggaaggggaggaggacg 0.642000 28 62 0 0 1 0 0 DPP6 1804 broad.mit.edu 37 7 154143328 154143328 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:154143328G>A ENST00000404039.1 + 2 668 c.81G>A c.(79-81)agG>agA p.R27R DPP6_ENST00000406326.1_Silent_p.R91R|DPP6_ENST00000427557.1_Silent_p.R29R|DPP6_ENST00000496611.1_3'UTR|DPP6_ENST00000377770.3_Silent_p.R91R|DPP6_ENST00000332007.3_Silent_p.R29R NM_001039350.1|NM_001936.3|NM_130797.2 NP_001034439.1|NP_001927.3|NP_570629.2 P42658 DPP6_HUMAN dipeptidyl-peptidase 6 91 cell death|proteolysis integral to membrane dipeptidyl-peptidase activity|serine-type peptidase activity NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 71 all_neural(206;0.181) all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204) OV - Ovarian serous cystadenocarcinoma(82;0.0562) CTCCGCAGAGGAATTGGAAAG 0.428000 24 107 0 0 1 0 0 LEPR 3953 broad.mit.edu 37 1 66062204 66062204 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:66062204C>T ENST00000349533.6 + 7 962 c.777C>T c.(775-777)agC>agT p.S259S LEPR_ENST00000344610.8_Silent_p.S259S|LEPR_ENST00000371060.3_Silent_p.S259S|LEPR_ENST00000406510.3_Intron|LEPR_ENST00000371059.3_Silent_p.S259S|LEPR_ENST00000462765.1_3'UTR|LEPR_ENST00000371058.1_Silent_p.S259S NM_002303.5 NP_002294.2 P48357 LEPR_HUMAN leptin receptor 259 Fibronectin type-III 1. energy reserve metabolic process|multicellular organismal development extracellular region|integral to membrane|plasma membrane cytokine receptor activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2) 36 OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094) CTTGGTCCAGCCCACCATTGG 0.328000 30 42 0 0 1 0 0 CACNA1H 8912 broad.mit.edu 37 16 1270001 1270001 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr16:1270001C>T ENST00000348261.5 + 35 6317 c.6069C>T c.(6067-6069)tcC>tcT p.S2023S CACNA1H_ENST00000565831.1_Silent_p.S2017S|CACNA1H_ENST00000358590.4_Silent_p.S2017S NM_021098.2 NP_066921.2 O95180 CAC1H_HUMAN calcium channel, voltage-dependent, T type, alpha 1H subunit 2023 aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction voltage-gated calcium channel complex low voltage-gated calcium channel activity breast(4)|endometrium(5)|kidney(2)|lung(23) 34 Hepatocellular(780;0.00369) Flunarizine(DB04841)|Mibefradil(DB01388) ACACCGATTCCTTGGAAGGGA 0.657000 3 8 0 0 1 0 0 PIK3CG 5294 broad.mit.edu 37 7 106522576 106522576 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:106522576G>A ENST00000359195.3 + 7 2863 c.2553G>A c.(2551-2553)atG>atA p.M851I PIK3CG_ENST00000496166.1_Missense_Mutation_p.M851I|PIK3CG_ENST00000440650.2_Missense_Mutation_p.M851I NM_002649.2 NP_002640.2 P48736 PK3CG_HUMAN phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma 851 PI3K/PI4K. G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 132 TACGAATCATGGAGTCTATTT 0.338000 26 112 0 0 1 0 0 ZC3HAV1 56829 broad.mit.edu 37 7 138764589 138764589 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:138764589C>T ENST00000242351.5 - 4 1414 c.1098G>A c.(1096-1098)acG>acA p.T366T ZC3HAV1_ENST00000471652.1_Silent_p.T366T|ZC3HAV1_ENST00000464606.1_Silent_p.T366T NM_020119.3 NP_064504.2 Q7Z2W4 ZCCHV_HUMAN zinc finger CCCH-type, antiviral 1 366 response to virus cytoplasm|nucleus NAD+ ADP-ribosyltransferase activity|RNA binding|zinc ion binding cervix(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(4)|skin(1) 37 CTTGGTCATTCGTCCAGGATG 0.547000 61 212 0 0 1 0 0 INF2 64423 broad.mit.edu 37 14 105179178 105179178 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr14:105179178C>T ENST00000392634.4 + 18 2736 c.2624C>T c.(2623-2625)gCc>gTc p.A875V INF2_ENST00000330634.7_Missense_Mutation_p.A875V NM_022489.3 NP_071934.3 Q27J81 INF2_HUMAN inverted formin, FH2 and WH2 domain containing 875 FH2. actin cytoskeleton organization endoplasmic reticulum|nucleus|perinuclear region of cytoplasm actin binding|Rho GTPase binding large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 8 all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172) all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116) Epithelial(152;0.176) AGCATCTCGGCCTTCCGGGCA 0.687000 5 49 0 0 1 0 0 SPARCL1 8404 broad.mit.edu 37 4 88415291 88415291 + Missense_Mutation SNP T T G TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:88415291T>G ENST00000418378.1 - 5 1232 c.661A>C c.(661-663)Aag>Cag p.K221Q SPARCL1_ENST00000503414.1_Missense_Mutation_p.K96Q|SPARCL1_ENST00000282470.6_Missense_Mutation_p.K221Q NM_001128310.1 NP_001121782.1 Q14515 SPRL1_HUMAN SPARC-like 1 (hevin) 221 signal transduction extracellular space|proteinaceous extracellular matrix calcium ion binding breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|stomach(2) 21 OV - Ovarian serous cystadenocarcinoma(123;0.00118) AATTCTGTCTTTCTTTCTTGG 0.423000 42 433 0 0 1 0 0 SLC27A5 10998 broad.mit.edu 37 19 59009927 59009927 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:59009927C>T ENST00000263093.2 - 10 2137 c.2028G>A c.(2026-2028)acG>acA p.T676T SLC27A5_ENST00000601355.1_Silent_p.T592T|SLC27A5_ENST00000594786.1_Silent_p.T81T|SLC27A5_ENST00000599700.1_5'UTR NM_012254.2 NP_036386.1 Q9Y2P5 S27A5_HUMAN solute carrier family 27 (fatty acid transporter), member 5 676 bile acid and bile salt transport|bile acid biosynthetic process|very long-chain fatty acid metabolic process endoplasmic reticulum membrane|integral to membrane ATP binding|cholate-CoA ligase activity|long-chain fatty acid-CoA ligase activity central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1) 19 all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.181) ACATTTCTGCCGTCAGGGGCC 0.602000 10 32 0 0 1 0 0 UNC45B 146862 broad.mit.edu 37 17 33495305 33495305 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:33495305C>T ENST00000268876.5 + 10 1474 c.1377C>T c.(1375-1377)atC>atT p.I459I UNC45B_ENST00000433649.1_Silent_p.I459I|UNC45B_ENST00000591048.1_Silent_p.I459I|UNC45B_ENST00000378449.1_Silent_p.I459I|UNC45B_ENST00000394570.2_Silent_p.I459I NM_173167.2 NP_775259.1 Q8IWX7 UN45B_HUMAN unc-45 homolog B (C. elegans) 459 cell differentiation|muscle organ development cytosol binding breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3) 59 Ovarian(249;0.17) CCTTCATCATCACCAATGGAG 0.577000 31 75 0 0 1 0 0 FAM196A 642938 broad.mit.edu 37 10 128974333 128974333 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:128974333G>A ENST00000522781.1 - 4 882 c.327C>T c.(325-327)ccC>ccT p.P109P DOCK1_ENST00000280333.6_Intron|FAM196A_ENST00000424811.2_Silent_p.P109P NM_001039762.2 NP_001034851.1 Q6ZSG2 F196A_HUMAN family with sequence similarity 196, member A 109 breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 30 TCTTAAGGTCGGGCGAGGTCT 0.562000 25 50 0 0 1 0 0 SLC4A8 9498 broad.mit.edu 37 12 51888808 51888808 + Missense_Mutation SNP G G T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:51888808G>T ENST00000453097.2 + 21 3066 c.2849G>T c.(2848-2850)cGc>cTc p.R950L SLC4A8_ENST00000358657.3_Missense_Mutation_p.R977L NM_001039960.2|NM_001258401.2 NP_001035049.1|NP_001245330.1 Q2Y0W8 S4A8_HUMAN solute carrier family 4, sodium bicarbonate cotransporter, member 8 950 bicarbonate transport|sodium ion transport integral to membrane|plasma membrane inorganic anion exchanger activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(18)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(2)|urinary_tract(5) 55 BRCA - Breast invasive adenocarcinoma(357;0.15) GTGCCGCTGCGCAAAGTGCAC 0.527000 40 95 8.16277e-20 8.24467e-20 1 1 0 MYH7 4625 broad.mit.edu 37 14 23895003 23895003 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr14:23895003G>A ENST00000355349.3 - 20 2349 c.2187C>T c.(2185-2187)gcC>gcT p.A729A NM_000257.2 NP_000248.2 P12883 MYH7_HUMAN myosin, heavy chain 7, cardiac muscle, beta 729 Myosin head-like. adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 137 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00725) CCTCAGGGATGGCCGCTGGGT 0.557000 32 76 0 0 1 0 0 TBX18 9096 broad.mit.edu 37 6 85472431 85472431 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:85472431G>A ENST00000369663.5 - 2 665 c.328C>T c.(328-330)Cct>Tct p.P110S TBX18_ENST00000606521.1_5'UTR|TBX18_ENST00000606784.1_5'UTR NM_001080508.1 NP_001073977.1 O95935 TBX18_HUMAN T-box 18 110 multicellular organismal development nucleus DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|liver(1)|lung(31)|ovary(2)|pancreas(3)|prostate(6)|skin(3) 61 all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858) BRCA - Breast invasive adenocarcinoma(108;0.0267) GACGCCAGAGGGGAAGCTCCC 0.706000 11 23 0 0 1 0 0 ADAMTS20 80070 broad.mit.edu 37 12 43833512 43833512 + Missense_Mutation SNP A A T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:43833512A>T ENST00000389420.3 - 18 2505 c.2506T>A c.(2506-2508)Tcc>Acc p.S836T ADAMTS20_ENST00000395541.2_5'UTR|ADAMTS20_ENST00000553158.1_Missense_Mutation_p.S836T NM_025003.3 NP_079279.3 P59510 ATS20_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 20 836 Spacer. proteinaceous extracellular matrix zinc ion binding breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1) 95 all_cancers(12;2.6e-05)|Lung SC(27;0.184) Lung NSC(34;0.0569)|all_lung(34;0.129) GBM - Glioblastoma multiforme(48;0.0473) ATATTGAAGGAATAATGTACA 0.373000 30 45 0 0 1 0 0 RBP2 5948 broad.mit.edu 37 3 139171993 139171993 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:139171993C>T ENST00000232217.2 - 4 426 c.370G>A c.(370-372)Gac>Aac p.D124N RP11-319G6.1_ENST00000515247.1_RNA NM_004164.2 NP_004155.2 P50120 RET2_HUMAN retinol binding protein 2, cellular 124 epidermis development|retinoid metabolic process|steroid metabolic process|vitamin A metabolic process cytosol retinal binding|retinol binding|transporter activity breast(1)|large_intestine(1)|lung(7)|prostate(1)|skin(1)|urinary_tract(1) 12 Vitamin A(DB00162) CACACCTGGTCACCACAGGTC 0.582000 24 58 0 0 1 0 0 PCDHA6 56142 broad.mit.edu 37 5 140207752 140207752 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:140207752G>A ENST00000529310.1 + 1 190 c.76G>A c.(76-78)Gtg>Atg p.V26M PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Missense_Mutation_p.V26M|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron NM_018909.2|NM_031848.1|NM_031849.1 NP_061732.1|NP_114036.1|NP_114037.1 NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 89 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AGCCTGGAAGGTGGGGAGCGG 0.607000 76 104 0 0 1 0 0 RYR1 6261 broad.mit.edu 37 19 38957016 38957016 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:38957016C>T ENST00000355481.4 + 24 3287 c.3156C>T c.(3154-3156)atC>atT p.I1052I RYR1_ENST00000360985.3_Silent_p.I1052I|RYR1_ENST00000359596.3_Silent_p.I1052I NM_000540.2|NM_001042723.1 NP_000531.2|NP_001036188.1 P21817 RYR1_HUMAN ryanodine receptor 1 (skeletal) 1052 6 X approximate repeats.|B30.2/SPRY 2. muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity p.I1052I(1) NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7) 285 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) GCTACAACATCGAGCCTCCTG 0.667000 3 5 0 0 1 0 0 MDN1 23195 broad.mit.edu 37 6 90398438 90398438 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:90398438G>A ENST00000369393.3 - 66 11228 c.11113C>T c.(11113-11115)Ctg>Ttg p.L3705L MDN1_ENST00000428876.1_Silent_p.L3705L Q9NU22 MDN1_HUMAN MDN1, midasin homolog (yeast) 3705 protein complex assembly|regulation of protein complex assembly nucleus ATP binding|ATPase activity|unfolded protein binding NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 218 all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246) BRCA - Breast invasive adenocarcinoma(108;0.0193) TTCACCATCAGGTCTGAGGGT 0.512000 20 51 0 0 1 0 0 PAN3 255967 broad.mit.edu 37 13 28830465 28830465 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr13:28830465C>T ENST00000399613.1 + 6 500 c.437C>T c.(436-438)tCc>tTc p.S146F PAN3_ENST00000380958.3_Missense_Mutation_p.S346F|PAN3_ENST00000282391.5_Missense_Mutation_p.S34F|PAN3_ENST00000483842.1_3'UTR Q58A45 PAN3_HUMAN PAN3 poly(A) specific ribonuclease subunit homolog (S. cerevisiae) 346 Interaction with polyadenylate-binding protein. nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening centrosome|cytosol ATP binding|protein kinase activity endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 24 Acute lymphoblastic leukemia(6;0.04) Lung SC(185;0.0262) Colorectal(13;0.000334) all cancers(112;0.0102)|Epithelial(112;0.0803)|GBM - Glioblastoma multiforme(144;0.121)|OV - Ovarian serous cystadenocarcinoma(117;0.13)|Lung(94;0.174) CCTCTTCATTCCCCCAAGATT 0.428000 62 164 0 0 1 0 0 PKHD1L1 93035 broad.mit.edu 37 8 110467059 110467059 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:110467059G>A ENST00000378402.5 + 45 6956 c.6852G>A c.(6850-6852)cgG>cgA p.R2284R NM_177531.4 NP_803875.2 Q86WI1 PKHL1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 2284 G8 1. immune response cytosol|extracellular space|integral to membrane receptor activity NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4) 263 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) TGGCTGTGCGGGAGGGAATCC 0.522000 HNSCC(38;0.096) 39 48 0 0 1 0 0 CMTM5 116173 broad.mit.edu 37 14 23848507 23848507 + Splice_Site SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr14:23848507G>A ENST00000359320.3 + 4 816 c.e4-1 CMTM5_ENST00000555731.1_Splice_Site|CMTM5_ENST00000397227.3_Splice_Site|CMTM5_ENST00000339180.4_Splice_Site|CMTM5_ENST00000342473.4_Splice_Site|CMTM5_ENST00000382809.2_Splice_Site NM_138460.2 NP_612469.1 Q96DZ9 CKLF5_HUMAN CKLF-like MARVEL transmembrane domain containing 5 chemotaxis extracellular space|integral to membrane cytokine activity endometrium(1)|large_intestine(1)|lung(4)|prostate(1)|stomach(1) 8 all_cancers(95;2e-05) GBM - Glioblastoma multiforme(265;0.0064)|READ - Rectum adenocarcinoma(4;0.0276)|Colorectal(4;0.0382) CACTCCCACAGGTTTTTGGCA 0.562000 64 90 0 0 1 0 0 KLK2 3817 broad.mit.edu 37 19 51377986 51377986 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:51377986C>T ENST00000325321.3 + 2 281 c.56C>T c.(55-57)cCc>cTc p.P19L KLK2_ENST00000391810.2_Intron|KLK2_ENST00000358049.4_Missense_Mutation_p.P19L|KLK2_ENST00000597509.1_3'UTR|AC037199.1_ENST00000594218.1_Intron P20151 KLK2_HUMAN kallikrein-related peptidase 2 19 proteolysis serine-type endopeptidase activity KLK2/ETV1(3)|KLK2/ETV4(2) large_intestine(3)|lung(6)|ovary(1)|skin(1) 11 all_neural(266;0.026) OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.00871) GGTGCCGTGCCCCTCATCCAG 0.607000 T ETV4 prostate 35 57 0 0 1 0 0 IGLV3-9 28804 broad.mit.edu 37 22 23162089 23162089 + RNA SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr22:23162089C>T ENST00000390316.2 + 0 297 CCAGGCCAGGCCCCTGTGCTG 0.582000 37 71 0 0 1 0 0 LRRIQ3 127255 broad.mit.edu 37 1 74648398 74648398 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:74648398G>A ENST00000354431.4 - 3 588 c.397C>T c.(397-399)Cca>Tca p.P133S LRRIQ3_ENST00000395089.1_Missense_Mutation_p.P133S|LRRIQ3_ENST00000370911.3_Missense_Mutation_p.P133S|LRRIQ3_ENST00000370909.2_Intron NM_001105659.1 NP_001099129.1 A6PVS8 LRIQ3_HUMAN leucine-rich repeats and IQ motif containing 3 133 LRRCT. NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5) 73 AGGCTTACTGGACAATCAAAC 0.358000 4 92 0 0 1 0 0 OR8D2 283160 broad.mit.edu 37 11 124189203 124189203 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:124189203C>T ENST00000357438.2 - 1 981 c.891G>A c.(889-891)gtG>gtA p.V297V NM_001002918.1 NP_001002918.1 Q9GZM6 OR8D2_HUMAN olfactory receptor, family 8, subfamily D, member 2 297 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 25 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0525) GTGCATTTTTCACATCCTTGT 0.403000 42 56 0 0 1 0 0 MASP1 5648 broad.mit.edu 37 3 187003692 187003692 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:187003692G>A ENST00000337774.5 - 2 547 c.158C>T c.(157-159)cCa>cTa p.P53L MASP1_ENST00000296280.6_Missense_Mutation_p.P53L|MASP1_ENST00000392470.2_Missense_Mutation_p.P27L|MASP1_ENST00000392472.2_Intron|MASP1_ENST00000495249.1_Intron|MASP1_ENST00000169293.6_Missense_Mutation_p.P53L NM_001879.5 NP_001870.3 P48740 MASP1_HUMAN mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor) 53 CUB 1.|Homodimerization (By similarity).|Interaction with FCN2.|Interaction with MBL2. complement activation, lectin pathway|negative regulation of complement activation|proteolysis extracellular space calcium ion binding|calcium-dependent protein binding|protein binding|protein homodimerization activity|serine-type endopeptidase activity NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1) 60 all_cancers(143;5.33e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;3.49e-18) GBM - Glioblastoma multiforme(93;0.0366) AAACCCATCTGGGACAGTGAT 0.468000 14 149 0 0 1 0 0 ANKS1B 56899 broad.mit.edu 37 12 100166732 100166732 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:100166732C>T ENST00000547776.2 - 8 1095 c.1096G>A c.(1096-1098)Gaa>Aaa p.E366K ANKS1B_ENST00000547010.1_Intron|ANKS1B_ENST00000329257.7_Missense_Mutation_p.E366K NM_152788.4 NP_690001.3 Q7Z6G8 ANS1B_HUMAN ankyrin repeat and sterile alpha motif domain containing 1B 366 Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1) 70 all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209) OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06) CCAAGTTCTTCCTCTGAAATC 0.398000 24 56 0 0 1 0 0 UBR4 23352 broad.mit.edu 37 1 19511732 19511732 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:19511732G>A ENST00000375267.2 - 15 1802 c.1799C>T c.(1798-1800)tCt>tTt p.S600F UBR4_ENST00000375226.2_Missense_Mutation_p.S600F|UBR4_ENST00000375254.3_Missense_Mutation_p.S600F|UBR4_ENST00000375217.2_Missense_Mutation_p.S600F Q5T4S7 UBR4_HUMAN ubiquitin protein ligase E3 component n-recognin 4 600 interspecies interaction between organisms cytoplasm|cytoskeleton|integral to membrane|nucleus calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6) 171 Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256) UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816) TTTACTGGGAGAAATAGTCTC 0.458000 61 159 0 0 1 0 0 COL24A1 255631 broad.mit.edu 37 1 86591184 86591184 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:86591184G>A ENST00000370571.2 - 3 1201 c.835C>T c.(835-837)Ctg>Ttg p.L279L COL24A1_ENST00000436319.1_Silent_p.L279L NM_152890.5 NP_690850.2 Q17RW2 COOA1_HUMAN collagen, type XXIV, alpha 1 279 cell adhesion collagen extracellular matrix structural constituent NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 101 all cancers(265;0.0627)|Epithelial(280;0.0689) TCCTCTGACAGTACTTTTTCA 0.378000 44 104 0 0 1 0 0 BCL11B 64919 broad.mit.edu 37 14 99641405 99641405 + Missense_Mutation SNP C C G TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr14:99641405C>G ENST00000345514.2 - 3 1821 c.1555G>C c.(1555-1557)Gag>Cag p.E519Q BCL11B_ENST00000443726.2_Missense_Mutation_p.E396Q|BCL11B_ENST00000357195.3_Missense_Mutation_p.E590Q NM_022898.1 NP_075049.1 Q9C0K0 BC11B_HUMAN B-cell CLL/lymphoma 11B (zinc finger protein) 590 nucleus zinc ion binding NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2) 34 Melanoma(154;0.0866)|all_epithelial(191;0.241) COAD - Colon adenocarcinoma(157;0.103) AGCGCCTTCTCGTCAGCCAGC 0.726000 T TLX3 T-ALL 13 61 0 0 1 0 0 FOXP3 50943 broad.mit.edu 37 X 49113902 49113902 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chrX:49113902G>A ENST00000376207.4 - 4 623 c.436C>T c.(436-438)Cgg>Tgg p.R146W FOXP3_ENST00000518685.1_Missense_Mutation_p.R111W|FOXP3_ENST00000376199.2_Missense_Mutation_p.R111W|FOXP3_ENST00000455775.2_Missense_Mutation_p.R146W|FOXP3_ENST00000376197.1_Missense_Mutation_p.R96W|FOXP3_ENST00000557224.1_Missense_Mutation_p.R111W NM_014009.3 NP_054728.2 Q9BZS1 FOXP3_HUMAN forkhead box P3 146 B cell homeostasis|cerebellum development|chromatin remodeling|embryo development|myeloid cell homeostasis|negative regulation of activated T cell proliferation|negative regulation of chronic inflammatory response|negative regulation of CREB transcription factor activity|negative regulation of cytokine secretion|negative regulation of histone acetylation|negative regulation of histone deacetylation|negative regulation of interferon-gamma biosynthetic process|negative regulation of interferon-gamma production|negative regulation of interleukin-10 production|negative regulation of interleukin-2 biosynthetic process|negative regulation of interleukin-2 production|negative regulation of interleukin-4 production|negative regulation of interleukin-5 production|negative regulation of interleukin-6 production|negative regulation of isotype switching to IgE isotypes|negative regulation of NF-kappaB transcription factor activity|negative regulation of T cell cytokine production|negative regulation of tumor necrosis factor production|pattern specification process|positive regulation of CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation|positive regulation of histone acetylation|positive regulation of immature T cell proliferation in thymus|positive regulation of peripheral T cell tolerance induction|positive regulation of T cell anergy|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transforming growth factor-beta1 production|post-embryonic development|regulation of isotype switching to IgG isotypes|response to virus|T cell homeostasis|T cell receptor signaling pathway|tolerance induction to self antigen cytoplasm|nucleus|transcription factor complex chromatin binding|DNA bending activity|double-stranded DNA binding|histone acetyltransferase binding|histone deacetylase binding|NF-kappaB binding|NFAT protein binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription corepressor activity|zinc ion binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1) 10 Ovarian(276;0.236) AGGCCAGGCCGGGCCTTGAGG 0.647000 19 10 0 0 1 0 0 MUC17 140453 broad.mit.edu 37 7 100678355 100678355 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:100678355C>T ENST00000306151.4 + 3 3722 c.3658C>T c.(3658-3660)Cca>Tca p.P1220S NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 1220 59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) AAGAAGCACTCCATTAACAAG 0.522000 7 948 0 0 1 0 0 OR2H1 26716 broad.mit.edu 37 6 29429741 29429741 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:29429741C>T ENST00000377136.1 + 4 660 c.195C>T c.(193-195)tcC>tcT p.S65S OR2H1_ENST00000396792.2_Silent_p.S65S|OR2H1_ENST00000377133.1_Silent_p.S65S|OR2H1_ENST00000473369.1_Intron|OR2H1_ENST00000377132.1_Silent_p.S65S|OR2H1_ENST00000442615.1_Silent_p.S65S Q9GZK4 OR2H1_HUMAN olfactory receptor, family 2, subfamily H, member 1 65 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(5)|lung(12) 17 CTGACCTCTCCTTCTTGGACC 0.542000 8 160 0 0 1 0 0 PRPH2 5961 broad.mit.edu 37 6 42689617 42689617 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:42689617C>T ENST00000230381.5 - 1 695 c.456G>A c.(454-456)atG>atA p.M152I NM_000322.4 NP_000313.2 P23942 PRPH2_HUMAN peripherin 2 (retinal degeneration, slow) 152 cell adhesion|visual perception integral to membrane NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(1)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1) 18 Colorectal(47;0.196) Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.00178)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0904) TGGTCTTCTTCATGAAACACC 0.547000 8 194 0 0 1 0 0 ZNF804B 219578 broad.mit.edu 37 7 88964217 88964217 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:88964217C>T ENST00000333190.4 + 4 2530 c.1921C>T c.(1921-1923)Ccc>Tcc p.P641S NM_181646.2 NP_857597.1 A4D1E1 Z804B_HUMAN zinc finger protein 804B 641 intracellular zinc ion binding NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9) 144 all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151) STAD - Stomach adenocarcinoma(171;0.0513) TAAATTGATTCCCTGCAGTCC 0.428000 HNSCC(36;0.09) 25 102 0 0 1 0 0 NRP2 8828 broad.mit.edu 37 2 206641085 206641085 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:206641085C>T ENST00000357118.4 + 16 2572 c.2541C>T c.(2539-2541)tcC>tcT p.S847S NRP2_ENST00000540841.1_Intron|NRP2_ENST00000412873.2_Intron|NRP2_ENST00000360409.3_Intron|NRP2_ENST00000272849.3_Silent_p.S852S|NRP2_ENST00000540178.1_Intron|NRP2_ENST00000357785.5_Intron NM_201267.1 NP_957719.1 O60462 NRP2_HUMAN neuropilin 2 0 angiogenesis|axon guidance|cell adhesion integral to membrane|membrane fraction|plasma membrane heparin binding|metal ion binding|semaphorin receptor activity|vascular endothelial growth factor receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2) 52 TGCTGGTCTCCGTCGCGCTGG 0.642000 OREG0015157 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 66 100 0 0 1 0 0 CEP97 79598 broad.mit.edu 37 3 101477209 101477209 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:101477209G>A ENST00000341893.3 + 9 2511 c.1759G>A c.(1759-1761)Gaa>Aaa p.E587K CEP97_ENST00000494050.1_Missense_Mutation_p.E528K|CEP97_ENST00000327230.4_Missense_Mutation_p.E587K Q8IW35 CEP97_HUMAN centrosomal protein 97kDa 587 CEP110 binding.|IQ. centrosome|nucleus protein binding cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 29 TGTGCGTTACGAAATCCGGCT 0.463000 4 121 0 0 1 0 0 TNFRSF11A 8792 broad.mit.edu 37 18 60036538 60036538 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr18:60036538C>T ENST00000586569.1 + 9 1426 c.1388C>T c.(1387-1389)tCc>tTc p.S463F TNFRSF11A_ENST00000269485.7_Intron NM_003839.2 NP_003830.1 Q9Y6Q6 TNR11_HUMAN tumor necrosis factor receptor superfamily, member 11a, NFKB activator 463 adaptive immune response|cell-cell signaling|circadian temperature homeostasis|monocyte chemotaxis|osteoclast differentiation|positive regulation of cell proliferation|positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling|positive regulation of fever generation by positive regulation of prostaglandin secretion|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|response to interleukin-1|response to lipopolysaccharide external side of plasma membrane|integral to membrane metal ion binding|tumor necrosis factor receptor activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(13)|skin(3)|upper_aerodigestive_tract(1) 29 Colorectal(73;0.188) CTCGTGGGTTCCCCAAAACGT 0.662000 4 114 0 0 1 0 0 HLA-DQA2 3118 broad.mit.edu 37 6 32713045 32713045 + Silent SNP G G A rs148839152 TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:32713045G>A ENST00000374940.3 + 2 294 c.192G>A c.(190-192)acG>acA p.T64T NM_020056.4 NP_064440.1 P01906 DQA2_HUMAN major histocompatibility complex, class II, DQ alpha 2 64 Alpha-1. antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway endoplasmic reticulum membrane|endosome membrane|Golgi apparatus|integral to plasma membrane|lysosomal membrane|MHC class II protein complex MHC class II receptor activity endometrium(2)|large_intestine(3)|lung(7)|skin(1) 13 Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) ACCTGGAGACGAAAGAGACTG 0.473000 48 177 0 0 1 0 0 ADCY10 55811 broad.mit.edu 37 1 167817707 167817707 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:167817707C>T ENST00000367848.1 - 19 2550 c.2053G>A c.(2053-2055)Gag>Aag p.E685K ADCY10_ENST00000367851.4_Missense_Mutation_p.E777K|ADCY10_ENST00000485964.1_5'UTR|ADCY10_ENST00000545172.1_Missense_Mutation_p.E624K Q96PN6 ADCYA_HUMAN adenylate cyclase 10 (soluble) 777 intracellular signal transduction|spermatogenesis cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction adenylate cyclase activity|ATP binding|magnesium ion binding autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1) 63 TTTAACTTCTCTGTTAGCTTA 0.393000 45 129 0 0 1 0 0 CXADR 1525 broad.mit.edu 37 21 18933790 18933790 + Missense_Mutation SNP A A T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr21:18933790A>T ENST00000284878.7 + 6 1577 c.829A>T c.(829-831)Atc>Ttc p.I277F CXADR_ENST00000356275.6_Intron|CXADR_ENST00000400165.1_Intron|CXADR_ENST00000400166.1_Intron|CXADR_ENST00000400169.1_Missense_Mutation_p.I277F|CXADR_ENST00000306618.10_Missense_Mutation_p.I236F NM_001338.4 NP_001329.1 P78310 CXAR_HUMAN coxsackie virus and adenovirus receptor 277 blood coagulation|cell adhesion|interspecies interaction between organisms|leukocyte migration|regulation of immune response adherens junction|basolateral plasma membrane|extracellular region|integral to plasma membrane|nucleus|tight junction receptor activity endometrium(2)|large_intestine(5)|lung(1)|ovary(1)|prostate(2) 11 Epithelial(23;0.000206)|all cancers(11;0.000302)|OV - Ovarian serous cystadenocarcinoma(11;0.0194)|Lung(58;0.0233)|COAD - Colon adenocarcinoma(22;0.0389)|Colorectal(24;0.0483)|LUSC - Lung squamous cell carcinoma(23;0.0782) TCATCACGATATCAGGTAATT 0.363000 15 36 0 0 1 0 0 SLAMF7 57823 broad.mit.edu 37 1 160719844 160719844 + Missense_Mutation SNP A A T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:160719844A>T ENST00000368043.3 + 3 647 c.610A>T c.(610-612)Aac>Tac p.N204Y SLAMF7_ENST00000368042.3_Missense_Mutation_p.N97Y|SLAMF7_ENST00000458104.2_Missense_Mutation_p.N97Y|SLAMF7_ENST00000359331.4_Missense_Mutation_p.N204Y|SLAMF7_ENST00000444090.2_Intron|SLAMF7_ENST00000458602.2_Missense_Mutation_p.N97Y|SLAMF7_ENST00000441662.2_Intron NM_021181.3 NP_067004.3 Q9NQ25 SLAF7_HUMAN SLAM family member 7 204 Ig-like C2-type. cell adhesion|natural killer cell activation|natural killer cell mediated cytotoxicity integral to membrane receptor activity breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(4) 24 all_cancers(52;2.63e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.0175) TGTCAGCAGAAACTTCTCAAG 0.552000 65 170 0 0 1 0 0 ACSL5 51703 broad.mit.edu 37 10 114168182 114168182 + Nonsense_Mutation SNP G G A rs151027490 TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:114168182G>A ENST00000393081.1 + 6 742 c.435G>A c.(433-435)tgG>tgA p.W145* ACSL5_ENST00000354273.4_Nonsense_Mutation_p.W145*|RP11-324O2.3_ENST00000598447.1_RNA|ACSL5_ENST00000479936.1_3'UTR|RP11-324O2.3_ENST00000594870.2_RNA|ACSL5_ENST00000354655.4_Nonsense_Mutation_p.W145*|ACSL5_ENST00000356116.1_Nonsense_Mutation_p.W201*|ACSL5_ENST00000433418.1_Nonsense_Mutation_p.W145*|RP11-324O2.3_ENST00000449782.2_RNA NM_203380.1 NP_976314.1 Q9ULC5 ACSL5_HUMAN acyl-CoA synthetase long-chain family member 5 145 fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process endoplasmic reticulum membrane|integral to membrane|mitochondrial outer membrane ATP binding|long-chain fatty acid-CoA ligase activity breast(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|stomach(1) 21 Colorectal(252;0.117)|Breast(234;0.222) Epithelial(162;0.0343)|all cancers(201;0.137) CTGTACAGTGGATCATCTCCG 0.448000 4 122 0 0 1 0 0 HMGCS2 3158 broad.mit.edu 37 1 120307042 120307042 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:120307042G>A ENST00000369406.3 - 2 361 c.312C>T c.(310-312)tcC>tcT p.S104S HMGCS2_ENST00000476640.1_5'UTR|HMGCS2_ENST00000544913.2_Silent_p.S104S NM_005518.3 NP_005509.1 P54868 HMCS2_HUMAN 3-hydroxy-3-methylglutaryl-CoA synthase 2 (mitochondrial) 104 acetoacetic acid biosynthetic process|cholesterol biosynthetic process|isoprenoid biosynthetic process|ketone body biosynthetic process mitochondrial matrix hydroxymethylglutaryl-CoA synthase activity NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 28 all_cancers(5;6.38e-10)|all_epithelial(5;1.1e-10)|Melanoma(3;1.93e-05)|Breast(55;0.218)|all_neural(166;0.219) all_lung(203;1.29e-06)|Lung NSC(69;9.35e-06)|all_epithelial(167;0.00124) Lung(183;0.0112)|LUSC - Lung squamous cell carcinoma(189;0.0595) TCAGGCACAGGGAGTTGATGT 0.547000 49 131 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179641759 179641759 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:179641759C>T ENST00000589042.1 - 28 5056 c.4832G>A c.(4831-4833)gGa>gAa p.G1611E TTN_ENST00000359218.5_Missense_Mutation_p.G1565E|TTN_ENST00000591111.1_Missense_Mutation_p.G1611E|RP11-88L24.4_ENST00000582038.2_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G1611E|TTN_ENST00000460472.2_Missense_Mutation_p.G1565E|TTN_ENST00000342175.6_Missense_Mutation_p.G1565E|TTN_ENST00000360870.5_Missense_Mutation_p.G1611E NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 1345 Ig-like 7. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GGCAGCTTCTCCCTTGGTTCC 0.403000 27 58 0 0 1 0 0 PIK3AP1 118788 broad.mit.edu 37 10 98405419 98405419 + Splice_Site SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:98405419C>T ENST00000339364.5 - 8 1305 c.1185_splice c.e8-1 p.E396_splice PIK3AP1_ENST00000371110.2_Splice_Site_p.E218_splice|PIK3AP1_ENST00000468783.1_5'UTR NM_152309.2 NP_689522.2 Q6ZUJ8 BCAP_HUMAN phosphoinositide-3-kinase adaptor protein 1 396 cytoplasm|plasma membrane NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(27)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4) 52 Colorectal(252;0.0442) Epithelial(162;6.29e-08)|all cancers(201;3.18e-06) TCCACCGTTTCCTGAAAGAGA 0.572000 36 84 0 0 1 0 0 ZPBP 11055 broad.mit.edu 37 7 50070852 50070852 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:50070852G>A ENST00000046087.2 - 5 611 c.542C>T c.(541-543)cCc>cTc p.P181L ZPBP_ENST00000419417.1_Missense_Mutation_p.P180L|ZPBP_ENST00000491129.1_Intron NM_001159878.1|NM_007009.2 NP_001153350.1|NP_008940.2 Q9BS86 ZPBP1_HUMAN zona pellucida binding protein 181 binding of sperm to zona pellucida extracellular region NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(3) 29 Glioma(55;0.08)|all_neural(89;0.245) GCTATTGCAGGGAGCTGCATG 0.313000 16 59 0 0 1 0 0 CLIP1 6249 broad.mit.edu 37 12 122848602 122848602 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:122848602G>A ENST00000358808.2 - 4 864 c.710C>T c.(709-711)gCc>gTc p.A237V CLIP1_ENST00000537178.1_Missense_Mutation_p.A237V|CLIP1_ENST00000540338.1_Missense_Mutation_p.A237V|CLIP1_ENST00000302528.7_Missense_Mutation_p.A237V|CLIP1_ENST00000361654.4_Missense_Mutation_p.A237V NM_001247997.1|NM_002956.2 NP_001234926.1|NP_002947.1 P30622 CLIP1_HUMAN CAP-GLY domain containing linker protein 1 237 CAP-Gly 2. mitotic prometaphase|positive regulation of microtubule polymerization centrosome|cytosol|endosome|intermediate filament|kinetochore nucleic acid binding|protein homodimerization activity|zinc ion binding NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226) CTCCCCCTTGGCAAAGTCGGT 0.493000 5 78 0 0 1 0 0 PCDHAC2 56134 broad.mit.edu 37 5 140348586 140348586 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:140348586C>T ENST00000289269.5 + 1 2767 c.2235C>T c.(2233-2235)ttC>ttT p.F745F PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHAC1_ENST00000253807.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA4_ENST00000530339.1_Intron NM_018899.5|NM_031883.2 NP_061722.1|NP_114089.1 Q9Y5I4 PCDC2_HUMAN 745 homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1) 45 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GTGGAGGCTTCTGTGGAGTAA 0.458000 36 88 0 0 1 0 0 MROH2B 133558 broad.mit.edu 37 5 41004483 41004483 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:41004483C>T ENST00000399564.4 - 37 4609 c.4159G>A c.(4159-4161)Gaa>Aaa p.E1387K MROH2B_ENST00000506092.2_Missense_Mutation_p.E942K NM_173489.4 NP_775760.3 maestro heat-like repeat family member 2B p.E1387*(1)|p.E1387K(1) AGCACTATTTCCTTGAAGTAG 0.458000 66 195 0 0 1 0 0 AGAP7 653268 broad.mit.edu 37 10 51465556 51465556 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:51465556C>T ENST00000374095.5 - 7 1025 c.900G>A c.(898-900)atG>atA p.M300I NM_001077685.1 NP_001071153.1 Q5VUJ5 AGAP7_HUMAN ArfGAP with GTPase domain, ankyrin repeat and PH domain 7 300 PH. regulation of ARF GTPase activity ARF GTPase activator activity|zinc ion binding kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1) 11 GAATATACTTCATATAATCAC 0.428000 44 92 0 0 1 0 0 LMTK2 22853 broad.mit.edu 37 7 97766670 97766670 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:97766670C>T ENST00000297293.5 + 2 440 c.147C>T c.(145-147)atC>atT p.I49I LMTK2_ENST00000493372.1_3'UTR NM_014916.3 NP_055731.2 Q8IWU2 LMTK2_HUMAN lemur tyrosine kinase 2 49 early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3) 59 all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125) CTTTTGTGATCCTGTGTGTGT 0.373000 36 113 0 0 1 0 0 CUL9 23113 broad.mit.edu 37 6 43172776 43172776 + Missense_Mutation SNP C C T rs139277408 TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:43172776C>T ENST00000252050.4 + 23 4639 c.4555C>T c.(4555-4557)Cgg>Tgg p.R1519W CUL9_ENST00000354495.3_Missense_Mutation_p.R1409W|CUL9_ENST00000372647.2_Missense_Mutation_p.R1519W NM_015089.2 NP_055904.1 Q8IWT3 CUL9_HUMAN cullin 9 1519 ubiquitin-dependent protein catabolic process cullin-RING ubiquitin ligase complex|cytoplasm ATP binding|ubiquitin protein ligase binding|zinc ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4) 92 GTTTGGGCCTCGGGCAGCCTT 0.602000 62 164 0 0 1 0 0 TDRKH 11022 broad.mit.edu 37 1 151748645 151748645 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:151748645C>T ENST00000368822.1 - 8 1777 c.1144G>A c.(1144-1146)Ggg>Agg p.G382R TDRKH_ENST00000440583.2_Missense_Mutation_p.G158R|TDRKH_ENST00000368825.3_Missense_Mutation_p.G337R|TDRKH_ENST00000368827.6_Missense_Mutation_p.G382R|TDRKH_ENST00000368824.3_Missense_Mutation_p.G382R|TDRKH_ENST00000368823.1_Missense_Mutation_p.G378R|TDRKH_ENST00000458431.2_Missense_Mutation_p.G382R Q9Y2W6 TDRKH_HUMAN tudor and KH domain containing 382 Tudor. RNA binding breast(5)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 26 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14) LUSC - Lung squamous cell carcinoma(543;0.181) TCCAAGTTCCCATTCTCCAAG 0.512000 38 102 0 0 1 0 0 FGFR4 2264 broad.mit.edu 37 5 176517405 176517405 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:176517405C>T ENST00000292408.4 + 3 351 c.106C>T c.(106-108)Ccc>Tcc p.P36S FGFR4_ENST00000393637.1_Missense_Mutation_p.P36S|FGFR4_ENST00000502906.1_Missense_Mutation_p.P36S|FGFR4_ENST00000292410.3_Missense_Mutation_p.P36S|FGFR4_ENST00000393648.2_Missense_Mutation_p.P36S|FGFR4_ENST00000507708.1_3'UTR NM_002011.3|NM_213647.1 NP_002002.3|NP_998812.1 P22455 FGFR4_HUMAN fibroblast growth factor receptor 4 36 Ig-like C2-type 1. insulin receptor signaling pathway|positive regulation of cell proliferation integral to plasma membrane ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2) 34 all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) Palifermin(DB00039) CTGCCTGGCTCCCAGCCTGGA 0.647000 TSP Lung(9;0.080) 4 68 0 0 1 0 0 IKZF2 22807 broad.mit.edu 37 2 213872376 213872376 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:213872376C>T ENST00000457361.1 - 8 1457 c.1289G>A c.(1288-1290)aGg>aAg p.R430K IKZF2_ENST00000374327.4_Missense_Mutation_p.R285K|IKZF2_ENST00000434687.1_Missense_Mutation_p.R430K|IKZF2_ENST00000342002.2_Missense_Mutation_p.R436K|IKZF2_ENST00000413091.3_3'UTR|IKZF2_ENST00000421754.2_Missense_Mutation_p.R356K|IKZF2_ENST00000451136.2_Missense_Mutation_p.R358K|IKZF2_ENST00000374319.4_Missense_Mutation_p.R404K NM_016260.2 NP_057344.2 Q9UKS7 IKZF2_HUMAN IKAROS family zinc finger 2 (Helios) 430 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 Esophageal squamous(248;0.0559)|Renal(323;0.218) UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;2.97e-07)|all cancers(144;1.53e-05)|LUSC - Lung squamous cell carcinoma(224;0.00599)|Lung(261;0.00792) GCTTTGTTTCCTCTTGGGATT 0.502000 21 281 0 0 1 0 0 UNC45B 146862 broad.mit.edu 37 17 33479996 33479996 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:33479996G>A ENST00000268876.5 + 5 563 c.466G>A c.(466-468)Gaa>Aaa p.E156K UNC45B_ENST00000433649.1_Missense_Mutation_p.E156K|UNC45B_ENST00000591048.1_Missense_Mutation_p.E156K|UNC45B_ENST00000378449.1_Missense_Mutation_p.E156K|UNC45B_ENST00000394570.2_Missense_Mutation_p.E156K NM_173167.2 NP_775259.1 Q8IWX7 UN45B_HUMAN unc-45 homolog B (C. elegans) 156 cell differentiation|muscle organ development cytosol binding breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3) 59 Ovarian(249;0.17) TGATAAGCGGGAAAAGGTGAG 0.572000 46 88 0 0 1 0 0 SP140 11262 broad.mit.edu 37 2 231101867 231101867 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:231101867C>T ENST00000392045.3 + 2 243 c.129C>T c.(127-129)ttC>ttT p.F43F SP140_ENST00000544128.1_3'UTR|SP140_ENST00000343805.6_Silent_p.F43F|SP140_ENST00000350136.5_Silent_p.F23F|SP140_ENST00000373645.3_Silent_p.F43F|SP140_ENST00000420434.3_Silent_p.F43F|SP140_ENST00000486687.2_Silent_p.F43F|SP140_ENST00000417495.3_Silent_p.F43F NM_007237.4 NP_009168.4 Q13342 LY10_HUMAN SP140 nuclear body protein 43 HSR. defense response cytoplasm|nuclear envelope|nucleolus|nucleoplasm DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1) 12 Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167) Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942) AGCCCATTTTCAGGTTCTTCA 0.493000 24 36 0 0 1 0 0 ANK3 288 broad.mit.edu 37 10 61956380 61956380 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:61956380C>T ENST00000280772.1 - 15 1884 c.1693G>A c.(1693-1695)Gga>Aga p.G565R ANK3_ENST00000503366.1_Missense_Mutation_p.G548R|ANK3_ENST00000373827.2_Missense_Mutation_p.G559R NM_020987.3 NP_066267.2 Q12955 ANK3_HUMAN ankyrin 3, node of Ranvier (ankyrin G) 565 establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 196 GGAGTAAATCCTTTCTGaaaa 0.353000 16 34 0 0 1 0 0 KCNC4 3749 broad.mit.edu 37 1 110766506 110766506 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:110766506C>T ENST00000369787.3 + 2 1626 c.1599C>T c.(1597-1599)atC>atT p.I533I KCNC4_ENST00000412512.2_Intron|KCNC4_ENST00000413138.3_Silent_p.I533I|KCNC4_ENST00000438661.2_Silent_p.I533I NM_004978.4 NP_004969.2 Q03721 KCNC4_HUMAN potassium voltage-gated channel, Shaw-related subfamily, member 4 533 synaptic transmission voltage-gated potassium channel complex voltage-gated potassium channel activity p.I533I(2) central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(2)|lung(11)|ovary(1)|skin(2) 32 all_cancers(81;9.88e-06)|all_epithelial(167;3.23e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233) Lung(183;0.0238)|all cancers(265;0.0693)|Epithelial(280;0.0748)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.135) AGGGTATGATCGAGAGGAAAC 0.577000 36 62 0 0 1 0 0 SDC1 6382 broad.mit.edu 37 2 20402600 20402600 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:20402600G>A ENST00000381150.1 - 6 1250 c.860C>T c.(859-861)tCc>tTc p.S287F SDC1_ENST00000403076.1_Intron|SDC1_ENST00000254351.4_Missense_Mutation_p.S287F|SDC1_ENST00000482879.1_Intron NM_001006946.1 NP_001006947.1 P18827 SDC1_HUMAN syndecan 1 287 lipid metabolic process|lipoprotein metabolic process|myoblast development|striated muscle cell development cytoplasm|extracellular region|focal adhesion|integral to plasma membrane cytoskeletal protein binding|protein C-terminus binding p.S287>?(1) NS(1)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(4)|skin(2) 21 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) OV - Ovarian serous cystadenocarcinoma(76;0.221) CTCCTCCAAGGAGTAGCTGCC 0.612000 118 234 0 0 1 0 0 SSPO 23145 broad.mit.edu 37 7 149509164 149509164 + RNA SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:149509164C>T ENST00000378016.2 + 0 9710 A2VEC9 SSPO_HUMAN SCO-spondin cell adhesion extracellular space peptidase inhibitor activity Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) TGCTCAGGCCCCGAGGCTGAA 0.692000 25 116 0 0 1 0 0 GRIN2B 2904 broad.mit.edu 37 12 13716560 13716560 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:13716560C>T ENST00000279593.3 - 13 3821 c.3612G>A c.(3610-3612)gtG>gtA p.V1204V NM_000834.3 NP_000825.2 Q13224 NMDE2_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2B 1204 response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1) 143 Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) CCTCCCACTCCACGTTGGTCA 0.637000 48 110 0 0 1 0 0 LIFR 3977 broad.mit.edu 37 5 38486043 38486043 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:38486043G>A ENST00000263409.4 - 17 2537 c.2375C>T c.(2374-2376)tCc>tTc p.S792F LIFR_ENST00000453190.2_Missense_Mutation_p.S792F NM_002310.5 NP_002301.1 P42702 LIFR_HUMAN leukemia inhibitory factor receptor alpha 792 Fibronectin type-III 6. positive regulation of cell proliferation extracellular region|integral to plasma membrane ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2) 78 all_lung(31;0.00021) TGTCTTCTGGGATATGTCAGT 0.403000 T PLAG1 salivary adenoma 25 114 0 0 1 0 0 PHKG2 5261 broad.mit.edu 37 16 30764597 30764597 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr16:30764597C>T ENST00000563588.1 + 5 610 c.371C>T c.(370-372)gCc>gTc p.A124V PHKG2_ENST00000424889.3_Missense_Mutation_p.A124V|PHKG2_ENST00000328273.7_Missense_Mutation_p.A124V NM_000294.2 NP_000285.1 P15735 PHKG2_HUMAN phosphorylase kinase, gamma 2 (testis) 124 Protein kinase. glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process cytosol ATP binding|calmodulin binding|phosphorylase kinase activity ovary(1)|skin(1) 2 Colorectal(24;0.198) GAGAAGGTGGCCCTCTCTGAA 0.602000 18 40 0 0 1 0 0 NPRL2 10641 broad.mit.edu 37 3 50387259 50387259 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:50387259G>A ENST00000232501.3 - 3 614 c.176C>T c.(175-177)gCt>gTt p.A59V NM_006545.4 NP_006536.3 Q8WTW4 NPRL2_HUMAN nitrogen permease regulator-like 2 (S. cerevisiae) 59 Interaction with PDPK1. negative regulation of kinase activity protein binding|protein kinase activity breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|urinary_tract(1) 11 CTTTTCCATAGCTGTGCTGGA 0.577000 49 115 0 0 1 0 0 DMD 1756 broad.mit.edu 37 X 31497159 31497159 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chrX:31497159C>T ENST00000357033.4 - 58 8815 c.8609G>A c.(8608-8610)cGa>cAa p.R2870Q DMD_ENST00000474231.1_Missense_Mutation_p.R410Q|DMD_ENST00000343523.2_Missense_Mutation_p.R410Q|DMD_ENST00000445312.1_5'UTR|DMD_ENST00000541735.1_Missense_Mutation_p.R410Q|DMD_ENST00000378677.2_Missense_Mutation_p.R2866Q|DMD_ENST00000359836.1_Missense_Mutation_p.R410Q|DMD_ENST00000378707.3_Missense_Mutation_p.R410Q NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2 NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1 P11532 DMD_HUMAN dystrophin 2870 muscle filament sliding|peptide biosynthetic process cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2) 77 all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203) CAGAAATATTCGTACAGTCTC 0.388000 19 18 0 0 1 0 0 APOM 55937 broad.mit.edu 37 6 31625026 31625026 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:31625026G>A ENST00000375916.3 + 3 790 c.294G>A c.(292-294)cgG>cgA p.R98R APOM_ENST00000375918.2_Silent_p.R26R|APOM_ENST00000375920.4_Silent_p.R26R NM_019101.2 NP_061974.2 O95445 APOM_HUMAN apolipoprotein M 98 cholesterol efflux|high-density lipoprotein particle assembly|high-density lipoprotein particle clearance|high-density lipoprotein particle remodeling|negative regulation of plasma lipoprotein particle oxidation|reverse cholesterol transport discoidal high-density lipoprotein particle|integral to plasma membrane|low-density lipoprotein particle|spherical high-density lipoprotein particle|very-low-density lipoprotein particle binding|lipid transporter activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(1) 7 GTGTGCCCCGGAAATGGATCT 0.512000 7 130 0 0 1 0 0 FRG2B 441581 broad.mit.edu 37 10 135440202 135440202 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:135440202G>A ENST00000443774.1 - 1 94 c.45C>T c.(43-45)atC>atT p.I15I FRG2B_ENST00000425520.1_Silent_p.I15I Q96QU4 FRG2B_HUMAN FSHD region gene 2 family, member B 15 nucleus endometrium(2)|kidney(2)|lung(14)|ovary(1)|prostate(1) 20 all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175) OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06) TGGAGCACTGGATGGAGGAGC 0.507000 5 344 0 0 1 0 0 OR13D1 286365 broad.mit.edu 37 9 107457368 107457368 + Silent SNP A A C TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:107457368A>C ENST00000318763.5 + 1 709 c.666A>C c.(664-666)tcA>tcC p.S222S NM_001004484.1 NP_001004484.1 Q8NGV5 O13D1_HUMAN olfactory receptor, family 13, subfamily D, member 1 222 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(4)|lung(10)|ovary(1)|prostate(2)|skin(2) 19 TTGTTTGTTCAGATATCACCA 0.338000 12 191 0 0 1 0 0 TANC2 26115 broad.mit.edu 37 17 61482532 61482532 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:61482532C>T ENST00000424789.2 + 18 3163 c.3159C>T c.(3157-3159)ctC>ctT p.L1053L AC015923.1_ENST00000431604.1_RNA|TANC2_ENST00000389520.4_Silent_p.L1053L|RP11-269G24.3_ENST00000583552.1_RNA NM_025185.3 NP_079461.2 Q9HCD6 TANC2_HUMAN tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2 1053 binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3) 44 GCCGTTTGCTCTTGGAACAAG 0.607000 6 34 0 0 1 0 0 SLAMF8 56833 broad.mit.edu 37 1 159799733 159799733 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:159799733C>T ENST00000289707.5 + 2 267 c.118C>T c.(118-120)Ccc>Tcc p.P40S SLAMF8_ENST00000368104.4_Intron NM_020125.2 NP_064510.1 Q9P0V8 SLAF8_HUMAN SLAM family member 8 40 integral to membrane endometrium(2)|large_intestine(4)|lung(6) 12 all_hematologic(112;0.0597) GGCAGCGCGTCCCCCTGGCTT 0.597000 13 388 0 0 1 0 0 BRS3 680 broad.mit.edu 37 X 135572467 135572467 + Missense_Mutation SNP A A T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chrX:135572467A>T ENST00000370648.3 + 2 838 c.610A>T c.(610-612)Acc>Tcc p.T204S NM_001727.1 NP_001718.1 P32247 BRS3_HUMAN bombesin-like receptor 3 204 adult feeding behavior|glucose metabolic process|regulation of blood pressure integral to membrane|plasma membrane bombesin receptor activity endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|pancreas(1)|prostate(1) 23 Acute lymphoblastic leukemia(192;0.000127) TGAATCATGTACCTCTTATCC 0.358000 32 16 0 0 1 0 0 NCKAP5 344148 broad.mit.edu 37 2 133540621 133540621 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:133540621G>A ENST00000409261.1 - 14 4136 c.3763C>T c.(3763-3765)Ctt>Ttt p.L1255F NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000317721.6_Missense_Mutation_p.L1255F NM_207363.2 NP_997246.2 O14513 NCKP5_HUMAN NCK-associated protein 5 1255 protein binding NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 118 CTGGAGGAAAGGGATCTTCTC 0.517000 4 155 0 0 1 0 0 SF3B2 10992 broad.mit.edu 37 11 65827381 65827381 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:65827381C>T ENST00000528302.1 + 12 1533 c.1479C>T c.(1477-1479)taC>taT p.Y493Y SF3B2_ENST00000322535.6_Silent_p.Y510Y Q13435 SF3B2_HUMAN splicing factor 3b, subunit 2, 145kDa 510 interspecies interaction between organisms catalytic step 2 spliceosome|nucleoplasm|U12-type spliceosomal complex nucleic acid binding|protein binding p.Y510Y(1) breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 41 AGCGCAAATACCTGCAGGGCA 0.582000 41 95 0 0 1 0 0 ADAM19 8728 broad.mit.edu 37 5 156929978 156929978 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:156929978G>A ENST00000257527.4 - 12 1219 c.1141C>T c.(1141-1143)Ccc>Tcc p.P381S ADAM19_ENST00000394020.1_Missense_Mutation_p.P383S|ADAM19_ENST00000430702.2_Missense_Mutation_p.P114S|ADAM19_ENST00000517905.1_Missense_Mutation_p.P381S NM_033274.3 NP_150377.1 Q9H013 ADA19_HUMAN ADAM metallopeptidase domain 19 381 Peptidase M12B. proteolysis integral to membrane metalloendopeptidase activity|SH3 domain binding|zinc ion binding breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 53 Renal(175;0.00488) Medulloblastoma(196;0.0359)|all_neural(177;0.14) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) AACACTTTGGGAAAGGGGTGC 0.542000 6 88 0 0 1 0 0 FMN2 56776 broad.mit.edu 37 1 240256633 240256633 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:240256633C>T ENST00000319653.9 + 1 1454 c.1224C>T c.(1222-1224)ttC>ttT p.F408F NM_020066.4 NP_064450.3 Q9NZ56 FMN2_HUMAN formin 2 408 actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions actin binding NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2) 178 Ovarian(103;0.127) all_cancers(173;0.013) OV - Ovarian serous cystadenocarcinoma(106;0.0106) AGCGCTGTTTCAAGCCCTACC 0.687000 47 78 0 0 1 0 0 COL6A3 1293 broad.mit.edu 37 2 238253148 238253148 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:238253148C>T ENST00000295550.4 - 36 7965 c.7513G>A c.(7513-7515)Gga>Aga p.G2505R COL6A3_ENST00000472056.1_Missense_Mutation_p.G1898R|COL6A3_ENST00000353578.4_Missense_Mutation_p.G2299R|COL6A3_ENST00000346358.4_Missense_Mutation_p.G2305R|COL6A3_ENST00000347401.3_Missense_Mutation_p.G2304R|COL6A3_ENST00000409809.1_Missense_Mutation_p.G2299R NM_004369.3 NP_004360.2 P12111 CO6A3_HUMAN collagen, type VI, alpha 3 2505 Nonhelical region.|VWFA 11. axon guidance|cell adhesion|muscle organ development collagen type VI|extracellular space serine-type endopeptidase inhibitor activity breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4) 217 Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203) Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034) ATTAGGAATCCGTTCCTCACA 0.507000 78 134 0 0 1 0 0 PPARG 5468 broad.mit.edu 37 3 12458480 12458480 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:12458480G>A ENST00000397026.2 + 8 1414 c.1031G>A c.(1030-1032)gGg>gAg p.G344E PPARG_ENST00000397010.2_Missense_Mutation_p.G338E|PPARG_ENST00000397012.2_Missense_Mutation_p.G338E|PPARG_ENST00000397015.2_Missense_Mutation_p.G338E|PPARG_ENST00000397000.1_Intron|PPARG_ENST00000539812.1_Intron|PPARG_ENST00000309576.6_Missense_Mutation_p.G338E|PPARG_ENST00000287820.6_Missense_Mutation_p.G366E P37231 PPARG_HUMAN peroxisome proliferator-activated receptor gamma 366 Ligand-binding. activation of caspase activity|cell fate commitment|cell maturation|cellular response to insulin stimulus|epithelial cell differentiation|glucose homeostasis|induction of apoptosis|innate immune response|lipid homeostasis|lipoprotein transport|long-chain fatty acid transport|low-density lipoprotein particle receptor biosynthetic process|monocyte differentiation|negative regulation of cholesterol storage|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of macrophage derived foam cell differentiation|negative regulation of receptor biosynthetic process|negative regulation of sequestering of triglyceride|negative regulation of transcription from RNA polymerase II promoter|placenta development|positive regulation of fat cell differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to lipid|response to low-density lipoprotein particle stimulus|white fat cell differentiation cytosol|nucleoplasm activating transcription factor binding|arachidonic acid binding|drug binding|enzyme binding|prostaglandin receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding PAX8/PPARG(117) breast(2)|endometrium(4)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1) 20 Atorvastatin(DB01076)|Icosapent(DB00159)|Pioglitazone(DB01132)|Rosiglitazone(DB00412)|Troglitazone(DB00197) AATAAAGATGGGGTTCTCATA 0.443000 T PAX8 follicular thyroid """Insulin resistance ; lipodystrophy, familial partial L;diabetes mellitus, insulin-resistantI, with acanthosis nigricans and hypertension""" 10 56 0 0 1 0 0 PCDHGB4 8641 broad.mit.edu 37 5 140768842 140768842 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:140768842C>T ENST00000519479.1 + 1 1391 c.1391C>T c.(1390-1392)cCg>cTg p.P464L PCDHGA7_ENST00000518325.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA3_ENST00000253812.6_Intron NM_003736.2|NM_018925.2|NM_032098.1 NP_003727.1|NP_061748.1|NP_115269.1 endometrium(9)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(2) 37 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GAGAACAACCCGCCTGGAGCC 0.547000 59 117 0 0 1 0 0 TSHZ2 128553 broad.mit.edu 37 20 51870642 51870642 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr20:51870642C>T ENST00000371497.5 + 2 1532 c.645C>T c.(643-645)ttC>ttT p.F215F TSHZ2_ENST00000329613.6_Silent_p.F212F|TSHZ2_ENST00000603338.2_Silent_p.F212F NM_001193421.1|NM_173485.5 NP_001180350.1|NP_775756.3 Q9NRE2 TSH2_HUMAN teashirt zinc finger homeobox 2 215 multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 84 STAD - Stomach adenocarcinoma(23;0.1) CCAGCAGATTCCGATGCCGAC 0.562000 28 57 0 0 1 0 0 DDX60 55601 broad.mit.edu 37 4 169157447 169157447 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:169157447G>A ENST00000393743.3 - 33 4780 c.4489C>T c.(4489-4491)Cca>Tca p.P1497S NM_017631.5 NP_060101.3 Q8IY21 DDX60_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 60 1497 ATP binding|ATP-dependent helicase activity|RNA binding breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4) 63 Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132) GBM - Glioblastoma multiforme(119;0.0485) AACTTTGGTGGAAAATATCTT 0.313000 21 45 0 0 1 0 0 TNR 7143 broad.mit.edu 37 1 175360563 175360563 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:175360563C>T ENST00000367674.1 - 7 2076 c.1368G>A c.(1366-1368)ggG>ggA p.G456G TNR_ENST00000263525.2_Silent_p.G456G NM_003285.2 NP_003276.3 Q92752 TENR_HUMAN tenascin R 456 Fibronectin type-III 2. axon guidance|cell adhesion|signal transduction proteinaceous extracellular matrix NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 177 Renal(580;0.146) CAATCACTCCCCCTTCATTGT 0.463000 16 37 0 0 1 0 0 GRHL1 29841 broad.mit.edu 37 2 10104067 10104067 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:10104067G>A ENST00000324907.9 + 6 935 c.799G>A c.(799-801)Gga>Aga p.G267R GRHL1_ENST00000324883.5_Missense_Mutation_p.G78R|GRHL1_ENST00000405379.2_Missense_Mutation_p.G267R NM_198182.2 NP_937825.2 Q9NZI5 GRHL1_HUMAN grainyhead-like 1 (Drosophila) 267 cellular lipid metabolic process|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent Golgi apparatus|nucleus DNA binding cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1) 17 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.172)|OV - Ovarian serous cystadenocarcinoma(76;0.246) ACAGAAGCCAGGAGACAGTAC 0.443000 33 67 0 0 1 0 0 ACTRT1 139741 broad.mit.edu 37 X 127185237 127185237 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chrX:127185237C>T ENST00000371124.3 - 1 1145 c.949G>A c.(949-951)Gaa>Aaa p.E317K NM_138289.3 NP_612146.1 Q8TDG2 ACTT1_HUMAN actin-related protein T1 317 cytoplasm|cytoskeleton breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3) 34 TGTTCCACTTCCTTCATGAGC 0.493000 8 78 0 0 1 0 0 CSMD2 114784 broad.mit.edu 37 1 34083114 34083114 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:34083114C>T ENST00000373381.4 - 38 6107 c.5931G>A c.(5929-5931)ccG>ccA p.P1977P CSMD2_ENST00000373377.1_Silent_p.P76P|CSMD2_ENST00000373380.1_Silent_p.P850P|CSMD2_ENST00000373388.2_Silent_p.P76P NM_052896.3 NP_443128.2 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 1937 CUB 12. integral to membrane|plasma membrane protein binding NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1) 246 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) GGGCATATCCCGGCTCACACT 0.582000 12 41 0 0 1 0 0 ZNF488 118738 broad.mit.edu 37 10 48370734 48370734 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:48370734G>A ENST00000395702.2 + 2 429 c.202G>A c.(202-204)Gat>Aat p.D68N ZNF488_ENST00000494156.1_Intron|ZNF488_ENST00000586537.1_Intron Q96MN9 ZN488_HUMAN zinc finger protein 488 68 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|ovary(2) 14 GGCGGGCCGGGATGTGGGCAG 0.697000 26 47 0 0 1 0 0 INVS 27130 broad.mit.edu 37 9 102988353 102988353 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:102988353C>T ENST00000262457.2 + 4 468 c.283C>T c.(283-285)Cgt>Tgt p.R95C INVS_ENST00000541287.1_5'UTR|INVS_ENST00000262456.2_Missense_Mutation_p.R95C|INVS_ENST00000460636.2_3'UTR NM_014425.3 NP_055240.2 Q9Y283 INVS_HUMAN inversin 95 negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway cytoplasm|membrane|microtubule|nucleus|spindle calmodulin binding breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 31 Acute lymphoblastic leukemia(62;0.056) GGGAAATTATCGTTTCATGAA 0.333000 6 28 0 0 1 0 0 PHC1 1911 broad.mit.edu 37 12 9086993 9086993 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:9086993C>T ENST00000433083.2 + 9 2182 c.2037C>T c.(2035-2037)ccC>ccT p.P679P PHC1_ENST00000536844.1_Silent_p.P330P|PHC1_ENST00000544916.1_Silent_p.P724P|PHC1_ENST00000543824.1_Silent_p.P724P P78364 PHC1_HUMAN polyhomeotic homolog 1 (Drosophila) 724 multicellular organismal development PcG protein complex DNA binding|zinc ion binding breast(2)|cervix(1)|endometrium(5)|large_intestine(8)|liver(2)|lung(3)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 27 ACTCAAAACCCCCACAGGCCA 0.537000 7 159 0 0 1 0 0 CLEC11A 6320 broad.mit.edu 37 19 51226863 51226863 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:51226863G>A ENST00000250340.4 + 1 278 c.81G>A c.(79-81)agG>agA p.R27R CLEC11A_ENST00000599973.1_Silent_p.R27R NM_002975.2 NP_002966.1 Q9Y240 CLC11_HUMAN C-type lectin domain family 11, member A 27 positive regulation of cell proliferation cytoplasm|extracellular region growth factor activity|sugar binding kidney(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1) 7 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028) gagcagagagggagtgggagg 0.647000 5 87 0 0 1 0 0 ANKRD30B 374860 broad.mit.edu 37 18 14796384 14796384 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr18:14796384G>A ENST00000358984.4 + 18 2077 c.1897G>A c.(1897-1899)Gaa>Aaa p.E633K ANKRD30B_ENST00000579292.1_Intron NM_001145029.1 NP_001138501.1 Q9BXX2 AN30B_HUMAN ankyrin repeat domain 30B 633 breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1) 22 TAAAGCCTTAGAATTAAAGGA 0.289000 6 12 0 0 1 0 0 EVL 51466 broad.mit.edu 37 14 100602259 100602259 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr14:100602259C>T ENST00000544450.2 + 9 1213 c.930C>T c.(928-930)tcC>tcT p.S310S EVL_ENST00000392920.3_Silent_p.S306S|EVL_ENST00000402714.2_Silent_p.S304S Q9UI08 EVL_HUMAN Enah/Vasp-like 304 EVH2. actin polymerization or depolymerization|axon guidance|cell surface receptor linked signaling pathway|organ morphogenesis cytoskeleton|cytosol|focal adhesion|lamellipodium actin binding|profilin binding|SH3 domain binding cervix(1)|large_intestine(5)|lung(3)|ovary(3)|urinary_tract(2) 14 Melanoma(154;0.152) CTAGTACCTCCCCCTCTCCGG 0.592000 82 164 0 0 1 0 0 OR8B2 26595 broad.mit.edu 37 11 124253113 124253113 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:124253113G>A ENST00000375013.2 - 1 145 c.127C>T c.(127-129)Ctt>Ttt p.L43F NM_001005468.1 NP_001005468.1 Q96RD0 OR8B2_HUMAN olfactory receptor, family 8, subfamily B, member 2 43 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(13)|ovary(1) 23 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277) ATCAAGCCAAGGTTGCCTACC 0.423000 60 69 0 0 1 0 0 HCN1 348980 broad.mit.edu 37 5 45645491 45645491 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:45645491C>T ENST00000303230.4 - 2 702 c.645G>A c.(643-645)atG>atA p.M215I NM_021072.3 NP_066550.2 O60741 HCN1_HUMAN hyperpolarization activated cyclic nucleotide-gated potassium channel 1 215 integral to membrane cAMP binding|sodium channel activity|voltage-gated potassium channel activity NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5) 156 TTAAATAATTCATCTTGATCA 0.368000 5 90 0 0 1 0 0 C10orf120 399814 broad.mit.edu 37 10 124457470 124457470 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:124457470G>A ENST00000329446.4 - 3 818 c.787C>T c.(787-789)Cgc>Tgc p.R263C NM_001010912.1 NP_001010912.1 Q5SQS8 CJ120_HUMAN chromosome 10 open reading frame 120 263 endometrium(1)|kidney(1)|large_intestine(6)|lung(9)|skin(2)|stomach(1)|urinary_tract(1) 21 all_neural(114;0.169)|Glioma(114;0.222) AATGATTTGCGATCATTTCCA 0.393000 102 50 0 0 1 0 0 MYOD1 4654 broad.mit.edu 37 11 17742815 17742815 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:17742815G>A ENST00000250003.3 + 3 938 c.723G>A c.(721-723)ggG>ggA p.G241G NM_002478.4 NP_002469.2 P15172 MYOD1_HUMAN myogenic differentiation 1 241 muscle cell fate commitment|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|protein phosphorylation|skeletal muscle tissue development nuclear chromatin|transcription factor complex E-box binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription coactivator activity breast(2)|endometrium(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(1) 17 CCAGGCCCGGGAAGAGTGCGG 0.692000 6 5 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179458925 179458925 + Nonsense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:179458925G>A ENST00000589042.1 - 297 58419 c.58195C>T c.(58195-58197)Cga>Tga p.R19399* TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000359218.5_Nonsense_Mutation_p.R10459*|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Nonsense_Mutation_p.R17758*|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Nonsense_Mutation_p.R16831*|TTN_ENST00000460472.2_Nonsense_Mutation_p.R10334*|TTN_ENST00000342175.6_Nonsense_Mutation_p.R10526*|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000419746.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 17758 Fibronectin type-III 40. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TCACCAACTCGAATCGTGAGC 0.423000 32 48 0 0 1 0 0 PCDH20 64881 broad.mit.edu 37 13 61985485 61985485 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr13:61985485C>T ENST00000409186.1 - 5 4852 c.2747G>A c.(2746-2748)gGg>gAg p.G916E PCDH20_ENST00000409204.4_Missense_Mutation_p.G916E Q8N6Y1 PCD20_HUMAN protocadherin 20 889 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 58 Breast(118;0.195)|Prostate(109;0.229) GBM - Glioblastoma multiforme(99;0.000118) ATGCTTTTCCCCTTTCCTTAA 0.423000 9 44 0 0 1 0 0 CPNE6 9362 broad.mit.edu 37 14 24542870 24542870 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr14:24542870G>A ENST00000397016.2 + 4 642 c.331G>A c.(331-333)Gag>Aag p.E111K CPNE6_ENST00000560092.1_3'UTR|CPNE6_ENST00000537691.1_Missense_Mutation_p.E166K|CPNE6_ENST00000216775.2_Missense_Mutation_p.E111K O95741 CPNE6_HUMAN copine VI (neuronal) 111 C2 1. lipid metabolic process|nervous system development|synaptic transmission|vesicle-mediated transport calcium ion binding|transporter activity endometrium(4)|large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 22 GBM - Glioblastoma multiforme(265;0.0184) CGGCTCTACGGAGTGCACCTT 0.567000 19 85 0 0 1 0 0 XPO5 57510 broad.mit.edu 37 6 43527934 43527934 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:43527934G>A ENST00000265351.7 - 11 1412 c.1202C>T c.(1201-1203)tCc>tTc p.S401F NM_020750.2 NP_065801.1 Q9HAV4 XPO5_HUMAN exportin 5 401 gene silencing by RNA cytosol|nucleoplasm protein binding|tRNA binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(4)|lung(10)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1) 34 all_cancers(18;2.08e-05)|Lung NSC(15;0.000907)|all_lung(25;0.00243) all cancers(41;0.000321)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0524) GTTAGTCATGGAAGCACGAAG 0.443000 12 27 0 0 1 0 0 KCNK1 3775 broad.mit.edu 37 1 233749968 233749968 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:233749968C>T ENST00000366621.3 + 1 219 c.51C>T c.(49-51)caC>caT p.H17H NM_002245.3 NP_002236.1 O00180 KCNK1_HUMAN potassium channel, subfamily K, member 1 17 voltage-gated potassium channel complex inward rectifier potassium channel activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1) 11 all_cancers(173;0.00217)|all_epithelial(177;0.121)|Prostate(94;0.122)|Acute lymphoblastic leukemia(190;0.175) Ibutilide(DB00308)|Quinidine(DB00908) TGGAGCGGCACCGCTCGGCCT 0.697000 37 39 0 0 1 0 0 OR13D1 286365 broad.mit.edu 37 9 107456970 107456970 + Missense_Mutation SNP C C T rs78179625 TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:107456970C>T ENST00000318763.5 + 1 311 c.268C>T c.(268-270)Ccc>Tcc p.P90S NM_001004484.1 NP_001004484.1 Q8NGV5 O13D1_HUMAN olfactory receptor, family 13, subfamily D, member 1 90 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(4)|lung(10)|ovary(1)|prostate(2)|skin(2) 19 CCTCCATACTCCCATGTATTT 0.408000 30 356 0 0 1 0 0 PCDHA8 56140 broad.mit.edu 37 5 140221796 140221796 + Missense_Mutation SNP G G A rs141101675 byFrequency TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:140221796G>A ENST00000531613.1 + 1 890 c.890G>A c.(889-891)cGa>cAa p.R297Q PCDHA8_ENST00000378123.3_Missense_Mutation_p.R297Q|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron NM_018911.2 NP_061734.1 p.R297Q(2) NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6) 78 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AGCATAGATCGAAATACGGGA 0.403000 44 79 0 0 1 0 0 CCNF 899 broad.mit.edu 37 16 2487227 2487227 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr16:2487227C>T ENST00000397066.4 + 5 532 c.444C>T c.(442-444)ttC>ttT p.F148F NM_001761.2 NP_001752.2 P41002 CCNF_HUMAN cyclin F 148 cell division|mitosis|negative regulation of centrosome duplication|protein ubiquitination|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process centriole|nucleus|SCF ubiquitin ligase complex protein binding breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(2)|lung(5)|prostate(4)|skin(1) 20 Ovarian(90;0.17) CCGCACCTTTCATCTGGCTCT 0.617000 12 79 0 0 1 0 0 SPIN1 10927 broad.mit.edu 37 9 91077649 91077649 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:91077649C>T ENST00000375859.3 + 4 618 c.340C>T c.(340-342)Ctc>Ttc p.L114F SPIN1_ENST00000469017.2_3'UTR|SPIN1_ENST00000541629.1_Missense_Mutation_p.L114F NM_006717.2 NP_006708.2 Q9Y657 SPIN1_HUMAN spindlin 1 114 cell cycle|gamete generation|multicellular organismal development nucleus methylated histone residue binding endometrium(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1) 4 GCTTGAAGTCCTCCCTGATAG 0.289000 44 85 0 0 1 0 0 LCE1F 353137 broad.mit.edu 37 1 152748928 152748928 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:152748928G>A ENST00000334371.2 + 1 81 c.81G>A c.(79-81)ccG>ccA p.P27P NM_178354.2 NP_848131.1 Q5T754 LCE1F_HUMAN late cornified envelope 1F 27 Pro-rich. keratinization kidney(1)|large_intestine(2)|lung(7)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) gccccacaccgaagtgccccc 0.657000 84 120 0 0 1 0 0 STON2 85439 broad.mit.edu 37 14 81743843 81743843 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr14:81743843G>A ENST00000555447.1 - 6 2224 c.1812C>T c.(1810-1812)ttC>ttT p.F604F STON2_ENST00000267540.2_Silent_p.F604F NM_001256430.1 NP_001243359.1 Q8WXE9 STON2_HUMAN stonin 2 604 MHD. endocytosis|intracellular protein transport|regulation of endocytosis clathrin adaptor complex|nucleolus protein binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|pancreas(2)|prostate(1)|skin(5) 34 BRCA - Breast invasive adenocarcinoma(234;0.0348) GCCCAGACAGGAAACTCAGGA 0.507000 30 77 0 0 1 0 0 SLC6A11 6538 broad.mit.edu 37 3 10885954 10885954 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:10885954G>A ENST00000254488.2 + 5 745 c.679G>A c.(679-681)Gag>Aag p.E227K NM_014229.1 NP_055044.1 P48066 S6A11_HUMAN solute carrier family 6 (neurotransmitter transporter), member 11 227 neurotransmitter secretion integral to plasma membrane gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(13)|ovary(1)|skin(4) 35 OV - Ovarian serous cystadenocarcinoma(96;0.229) CCTTCGCTGGGAGCTGGCCTT 0.592000 31 59 0 0 1 0 0 PLCXD3 345557 broad.mit.edu 37 5 41313831 41313831 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:41313831G>A ENST00000377801.3 - 3 928 c.854C>T c.(853-855)cCa>cTa p.P285L PLCXD3_ENST00000328457.3_Missense_Mutation_p.P285L Q63HM9 PLCX3_HUMAN phosphatidylinositol-specific phospholipase C, X domain containing 3 285 intracellular signal transduction|lipid catabolic process phospholipase C activity|signal transducer activity central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 37 ACTCTCTCCTGGCTTCTGCGT 0.428000 4 81 0 0 1 0 0 DMRTC2 63946 broad.mit.edu 37 19 42352943 42352943 + Nonsense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:42352943G>A ENST00000269945.3 + 5 579 c.528G>A c.(526-528)tgG>tgA p.W176* DMRTC2_ENST00000596827.1_Nonsense_Mutation_p.W176* NM_001040283.1 NP_001035373.1 Q8IXT2 DMRTD_HUMAN DMRT-like family C2 176 Pro-rich. cell differentiation|sex differentiation nucleus DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1) 10 CTGGCCCTTGGGTCCCTGGAC 0.657000 70 137 0 0 1 0 0 F5 2153 broad.mit.edu 37 1 169529967 169529967 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:169529967C>T ENST00000367796.3 - 4 612 c.411G>A c.(409-411)aaG>aaA p.K137K F5_ENST00000546081.1_5'UTR|F5_ENST00000367797.3_Silent_p.K137K P12259 FA5_HUMAN coagulation factor V (proaccelerin, labile factor) 137 F5/8 type A 1.|Plastocyanin-like 1. cell adhesion|platelet activation|platelet degranulation plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1) 128 all_hematologic(923;0.208) Drotrecogin alfa(DB00055) CGTCGTCCATCTTCTCCGCAG 0.527000 5 165 0 0 1 0 0 MYOC 4653 broad.mit.edu 37 1 171621464 171621464 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:171621464C>T ENST00000037502.5 - 1 347 c.288G>A c.(286-288)gaG>gaA p.E96E NM_000261.1 NP_000252.1 Q99972 MYOC_HUMAN myocilin, trabecular meshwork inducible glucocorticoid response 96 anatomical structure morphogenesis cilium|extracellular space|rough endoplasmic reticulum structural molecule activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(1)|urinary_tract(2) 28 all_cancers(6;5.47e-10)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181) GGAGGAGGCTCTCCAGGGAGC 0.632000 37 109 0 0 1 0 0 TSC1 7248 broad.mit.edu 37 9 135779199 135779199 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:135779199G>A ENST00000298552.3 - 17 2268 c.2047C>T c.(2047-2049)Cct>Tct p.P683S TSC1_ENST00000440111.2_Missense_Mutation_p.P683S|TSC1_ENST00000545250.1_Missense_Mutation_p.P632S NM_000368.4|NM_001162426.1|NM_001162427.1 NP_000359.1|NP_001155898.1|NP_001155899.1 Q92574 TSC1_HUMAN tuberous sclerosis 1 683 activation of Rho GTPase activity|cell cycle arrest|cell-matrix adhesion|insulin receptor signaling pathway|negative regulation of cell proliferation|negative regulation of protein ubiquitination|negative regulation of TOR signaling cascade|negative regulation of translation|positive regulation of focal adhesion assembly|regulation of phosphoprotein phosphatase activity|regulation of stress fiber assembly|rRNA export from nucleus cell cortex|lamellipodium|membrane|TSC1-TSC2 complex chaperone binding|protein N-terminus binding p.?(1) NS(1)|bone(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(9)|lung(20)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 65 OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06) TCTGAAGGAGGAGAGCCTGAT 0.488000 """D, Mis, N, F, S""" """hamartoma, renal cell""" Tuberous Sclerosis 23 66 0 0 1 0 0 CDHR2 54825 broad.mit.edu 37 5 176011846 176011846 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:176011846G>A ENST00000510636.1 + 19 2838 c.2564G>A c.(2563-2565)gGg>gAg p.G855E CDHR2_ENST00000261944.5_Missense_Mutation_p.G855E|CDHR2_ENST00000506348.1_Missense_Mutation_p.G855E NM_001171976.1 NP_001165447.1 Q9BYE9 CDHR2_HUMAN cadherin-related family member 2 855 Cadherin 8. homophilic cell adhesion|negative regulation of cell growth apical plasma membrane|cell junction|integral to membrane calcium ion binding|protein binding breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1) 56 ACCAAGGCCGGGGTCGATGTG 0.607000 41 63 0 0 1 0 0 VSIG10 54621 broad.mit.edu 37 12 118533424 118533424 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:118533424G>A ENST00000359236.5 - 2 551 c.275C>T c.(274-276)tCg>tTg p.S92L VSIG10_ENST00000536905.1_5'UTR NM_019086.5 NP_061959.2 Q8N0Z9 VSI10_HUMAN V-set and immunoglobulin domain containing 10 92 Ig-like C2-type 1. integral to membrane endometrium(5)|large_intestine(3)|lung(6)|skin(1)|stomach(1)|urinary_tract(1) 17 CAGGCTCAGCGATTCAATGTG 0.572000 38 64 0 0 1 0 0 MAPK3 5595 broad.mit.edu 37 16 30129371 30129371 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr16:30129371G>A ENST00000484663.1 - 3 1448 c.315C>T c.(313-315)tcC>tcT p.S105S MAPK3_ENST00000263025.4_Silent_p.S219S|MAPK3_ENST00000395202.1_Silent_p.S219S|MAPK3_ENST00000395200.1_Intron|MAPK3_ENST00000322266.5_Silent_p.S219S|MAPK3_ENST00000403394.1_Silent_p.S219S|MAPK3_ENST00000395199.3_Silent_p.S219S P27361 MK03_HUMAN mitogen-activated protein kinase 3 219 Protein kinase. activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle|cellular response to mechanical stimulus|epidermal growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway|interleukin-1-mediated signaling pathway|interspecies interaction between organisms|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter|Ras protein signal transduction|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription initiation from RNA polymerase I promoter cytosol|nucleoplasm ATP binding|MAP kinase activity|phosphatase binding Arsenic trioxide(DB01169)|Isoproterenol(DB01064)|Simvastatin(DB00641)|Sulindac(DB00605) CTCCTACCTTGGAGTTCAGCA 0.612000 20 41 0 0 1 0 0 BACH2 60468 broad.mit.edu 37 6 90642314 90642314 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:90642314G>A ENST00000257749.4 - 9 3046 c.2339C>T c.(2338-2340)cCc>cTc p.P780L BACH2_ENST00000343122.3_Missense_Mutation_p.P780L|BACH2_ENST00000537989.1_Missense_Mutation_p.P780L NM_021813.2 NP_068585.1 Q9BYV9 BACH2_HUMAN BTB and CNC homology 1, basic leucine zipper transcription factor 2 780 nucleus protein dimerization activity|sequence-specific DNA binding central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1) 45 all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063) BRCA - Breast invasive adenocarcinoma(108;0.0799) GGGTGCCCAGGGGGGTCCGGG 0.642000 59 86 0 0 1 0 0 LILRB2 10288 broad.mit.edu 37 19 54782782 54782782 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:54782782G>A ENST00000391748.1 - 6 967 c.840C>T c.(838-840)aaC>aaT p.N280N LILRB2_ENST00000314446.5_Silent_p.N280N|LILRB2_ENST00000391749.4_Silent_p.N280N|LILRB2_ENST00000434421.1_Silent_p.N164N|LILRB2_ENST00000391746.1_Silent_p.N280N NM_001278403.1 NP_001265332.1 Q8N423 LIRB2_HUMAN leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2 280 Ig-like C2-type 3. cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response integral to plasma membrane|membrane fraction receptor activity breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 44 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) CCAGGGTGAAGTTGGCCTGGG 0.647000 11 124 0 0 1 0 0 RHBDL2 54933 broad.mit.edu 37 1 39384744 39384744 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:39384744C>T ENST00000289248.2 - 2 1149 c.141G>A c.(139-141)agG>agA p.R47R RP5-864K19.4_ENST00000433671.2_RNA|RHBDL2_ENST00000372985.3_Silent_p.R127R|RHBDL2_ENST00000372990.1_Silent_p.R47R|RHBDL2_ENST00000540558.1_Silent_p.R47R|RHBDL2_ENST00000538156.1_Silent_p.R114R Q9NX52 RHBL2_HUMAN rhomboid, veinlet-like 2 (Drosophila) 47 proteolysis integral to membrane|plasma membrane serine-type endopeptidase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3) 8 Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;8.23e-17) TTGAGACAATCCTGTGGACCT 0.502000 56 120 0 0 1 0 0 RAG2 5897 broad.mit.edu 37 11 36614955 36614955 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:36614955C>T ENST00000311485.3 - 2 925 c.764G>A c.(763-765)gGa>gAa p.G255E NM_000536.3|NM_001243785.1|NM_001243786.1 NP_000527.2|NP_001230714.1|NP_001230715.1 P55895 RAG2_HUMAN recombination activating gene 2 255 chromatin modification|pre-B cell allelic exclusion|somatic diversification of immunoglobulins|T cell differentiation in thymus|V(D)J recombination nucleus chromatin binding|DNA binding|endonuclease activity|methylated histone residue binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-4,5-bisphosphate binding|zinc ion binding breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|pancreas(2)|prostate(1)|skin(4) 32 all_lung(20;0.226) all_hematologic(20;0.00756) GACAGAGATTCCTCCTGGCAA 0.438000 Familial Hemophagocytic Lymphohistiocytosis 30 62 0 0 1 0 0 M1AP 130951 broad.mit.edu 37 2 74803672 74803672 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:74803672C>T ENST00000290536.5 - 6 959 c.843G>A c.(841-843)ttG>ttA p.L281L M1AP_ENST00000464686.1_5'UTR|M1AP_ENST00000358434.2_5'UTR|M1AP_ENST00000536235.1_Silent_p.L281L|M1AP_ENST00000409585.1_Silent_p.L281L NM_138804.3 NP_620159.2 meiosis 1 associated protein CATCCATTCTCAAGGAGCCGT 0.483000 20 40 0 0 1 0 0 SPINK5 11005 broad.mit.edu 37 5 147499644 147499644 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:147499644C>T ENST00000359874.3 + 25 2459 c.2386C>T c.(2386-2388)Cgg>Tgg p.R796W SPINK5_ENST00000398454.1_Missense_Mutation_p.R796W|SPINK5_ENST00000256084.7_Missense_Mutation_p.R796W NM_001127698.1 NP_001121170.1 Q9NQ38 ISK5_HUMAN serine peptidase inhibitor, Kazal type 5 796 Kazal-like 12. anagen|epithelial cell differentiation|extracellular matrix organization|hair cell differentiation|negative regulation of angiogenesis|negative regulation of immune response|regulation of T cell differentiation cell cortex|cytosol|endoplasmic reticulum membrane|extracellular region|lamellar body|perinuclear region of cytoplasm serine-type endopeptidase inhibitor activity breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(8)|upper_aerodigestive_tract(2) 64 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGACCCTGTCCGGGGTCCAGA 0.388000 25 41 0 0 1 0 0 ARHGAP35 2909 broad.mit.edu 37 19 47422083 47422083 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:47422083C>T ENST00000404338.3 + 1 151 c.151C>T c.(151-153)Cac>Tac p.H51Y NM_004491.4 NP_004482.4 Q9NRY4 RHG35_HUMAN Rho GTPase activating protein 35 51 axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent cytosol DNA binding|Rho GTPase activator activity|transcription corepressor activity TGACGAGTTTCACTTGGACCA 0.542000 5 117 0 0 1 0 0 NRSN1 140767 broad.mit.edu 37 6 24146027 24146027 + Missense_Mutation SNP A A T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:24146027A>T ENST00000378491.4 + 4 742 c.441A>T c.(439-441)gaA>gaT p.E147D NM_080723.4 NP_542454.3 Q8IZ57 NRSN1_HUMAN neurensin 1 147 nervous system development growth cone|integral to membrane|neuronal cell body|transport vesicle breast(1)|endometrium(2)|large_intestine(2)|lung(15)|skin(1)|upper_aerodigestive_tract(1) 22 CCAAAGAAGAAAAATTCCTCC 0.502000 11 147 0 0 1 0 0 ABCB1 5243 broad.mit.edu 37 7 87150190 87150190 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:87150190G>A ENST00000265724.3 - 23 3105 c.2688C>T c.(2686-2688)atC>atT p.I896I ABCB1_ENST00000488737.2_5'UTR|ABCB1_ENST00000543898.1_Silent_p.I832I NM_000927.4 NP_000918.2 P08183 MDR1_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 1 896 ABC transmembrane type-1 2. G2/M transition of mitotic cell cycle|stem cell proliferation apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction ATP binding|protein binding|xenobiotic-transporting ATPase activity NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1) 111 Esophageal squamous(14;0.00164) Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570) CTTCAGTAGCGATCTGTAACA 0.368000 26 74 0 0 1 0 0 ZNF777 27153 broad.mit.edu 37 7 149152675 149152675 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:149152675G>A ENST00000247930.4 - 2 762 c.439C>T c.(439-441)Ccc>Tcc p.P147S NM_015694.2 NP_056509.2 Q9ULD5 ZN777_HUMAN zinc finger protein 777 147 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(5)|lung(17)|ovary(1)|skin(2)|urinary_tract(1) 26 Melanoma(164;0.165) OV - Ovarian serous cystadenocarcinoma(82;0.00358) TCAGTCTCGGGAACTGTTGGG 0.602000 81 340 0 0 1 0 0 SLC44A5 204962 broad.mit.edu 37 1 75679658 75679658 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:75679658C>T ENST00000370855.5 - 21 1932 c.1819G>A c.(1819-1821)Gaa>Aaa p.E607K SLC44A5_ENST00000535611.1_Missense_Mutation_p.E477K|SLC44A5_ENST00000370859.3_Missense_Mutation_p.E607K NM_152697.4 NP_689910.2 Q8NCS7 CTL5_HUMAN solute carrier family 44, member 5 607 integral to membrane|plasma membrane choline transmembrane transporter activity kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 61 TATGTAACTTCATCTGTAACT 0.279000 33 82 0 0 1 0 0 NME7 29922 broad.mit.edu 37 1 169292464 169292464 + Silent SNP A A G TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:169292464A>G ENST00000367811.3 - 3 425 c.169T>C c.(169-171)Ttg>Ctg p.L57L NME7_ENST00000469474.1_5'UTR|NME7_ENST00000472647.1_Silent_p.L21L NM_013330.3 NP_037462.1 Q9Y5B8 NDK7_HUMAN NME/NM23 family member 7 57 DM10. CTP biosynthetic process|GTP biosynthetic process|UTP biosynthetic process centrosome ATP binding|metal ion binding|nucleoside diphosphate kinase activity central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(8)|skin(1) 16 all_hematologic(923;0.208) AAATCTTCCAAGTGCAGGTTA 0.368000 62 188 0 0 1 0 0 TENM4 26011 broad.mit.edu 37 11 78419526 78419526 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:78419526G>A ENST00000278550.7 - 27 4551 c.4089C>T c.(4087-4089)ttC>ttT p.F1363F NM_001098816.2 NP_001092286.2 teneurin transmembrane protein 4 TGCCATCCACGAAGTAGATCA 0.522000 25 34 0 0 1 0 0 MDGA1 266727 broad.mit.edu 37 6 37631836 37631836 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:37631836C>T ENST00000434837.2 - 2 1292 c.114G>A c.(112-114)gtG>gtA p.V38V MDGA1_ENST00000297153.7_Silent_p.V38V|MDGA1_ENST00000505425.1_Silent_p.V38V NM_153487.3 NP_705691.1 Q8NFP4 MDGA1_HUMAN MAM domain containing glycosylphosphatidylinositol anchor 1 38 Ig-like 1. brain development|neuron migration|spinal cord association neuron differentiation anchored to plasma membrane central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(1) 38 TGTCCTCTTTCACCACACATG 0.607000 34 152 0 0 1 0 0 NOS1 4842 broad.mit.edu 37 12 117701773 117701773 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:117701773G>A ENST00000317775.6 - 13 2828 c.2143C>T c.(2143-2145)Ccc>Tcc p.P715S NOS1_ENST00000344089.3_3'UTR|NOS1_ENST00000338101.4_Missense_Mutation_p.P715S NM_000620.4|NM_001204218.1 NP_000611.1|NP_001191147.1 P29475 NOS1_HUMAN nitric oxide synthase 1 (neuronal) 715 multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 117 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) BRCA - Breast invasive adenocarcinoma(302;0.0561) L-Citrulline(DB00155) GTGTTCCAGGGATCAGGCTGG 0.577000 45 142 0 0 1 0 0 SERPINB13 5275 broad.mit.edu 37 18 61256032 61256032 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr18:61256032G>A ENST00000344731.5 + 2 233 c.131G>A c.(130-132)gGg>gAg p.G44E SERPINB13_ENST00000269489.5_Missense_Mutation_p.G44E NM_012397.3 NP_036529.1 Q9UIV8 SPB13_HUMAN serpin peptidase inhibitor, clade B (ovalbumin), member 13 44 regulation of proteolysis|response to UV cytoplasm|extracellular region serine-type endopeptidase inhibitor activity breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|urinary_tract(1) 25 GTCCTCCTGGGGACCCGAGGA 0.527000 29 47 0 0 1 0 0 SPEG 10290 broad.mit.edu 37 2 220347517 220347517 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:220347517G>A ENST00000312358.7 + 29 5709 c.5577G>A c.(5575-5577)aaG>aaA p.K1859K AC053503.11_ENST00000429882.1_RNA|SPEG_ENST00000485813.1_3'UTR NM_005876.4 NP_005867.3 Q15772 SPEG_HUMAN SPEG complex locus 1859 muscle organ development|negative regulation of cell proliferation nucleus ATP binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4) 100 Renal(207;0.0183) Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163) CTCAGGCAAAGGGCGCAGAGG 0.582000 11 42 0 0 1 0 0 DNAH8 1769 broad.mit.edu 37 6 38850708 38850708 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:38850708G>A ENST00000359357.3 + 52 7484 c.7230G>A c.(7228-7230)aaG>aaA p.K2410K DNAH8_ENST00000441566.1_Silent_p.K2374K|DNAH8_ENST00000449981.2_Silent_p.K2627K dynein, axonemal, heavy chain 8 NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4) 260 ACTGGAATAAGAAACTTCAGC 0.289000 89 229 0 0 1 0 0 MUC3A 4584 broad.mit.edu 37 7 100552258 100552258 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:100552258G>A ENST00000319509.7 + 1 1009 c.1009G>A c.(1009-1011)Gat>Aat p.D337N mucin 3A, cell surface associated breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3) 44 CTCTCCCACTGATCCATGTGT 0.478000 82 661 0 0 1 0 0 RCSD1 92241 broad.mit.edu 37 1 167666379 167666379 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:167666379G>A ENST00000367854.3 + 6 849 c.518G>A c.(517-519)cGa>cAa p.R173Q RCSD1_ENST00000537350.1_Missense_Mutation_p.R143Q NM_052862.3 NP_443094.3 Q6JBY9 CPZIP_HUMAN RCSD domain containing 1 173 NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1) 24 all_hematologic(923;0.215) CCCTCCAGGCGATTCCGAAGG 0.498000 40 97 0 0 1 0 0 GOLGA2P5 55592 broad.mit.edu 37 12 100551427 100551427 + RNA SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:100551427G>A ENST00000397112.4 - 0 1771 NR_036632.1 large_intestine(1)|lung(3) 4 CAACAGATGAGCCAGGCGCTG 0.627000 28 67 0 0 1 0 0 WDTC1 23038 broad.mit.edu 37 1 27631591 27631591 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:27631591C>T ENST00000319394.3 + 15 2278 c.1743C>T c.(1741-1743)tcC>tcT p.S581S WDTC1_ENST00000361771.3_Silent_p.S580S NM_001276252.1|NM_015023.3 NP_001263181.1|NP_055838.2 Q8N5D0 WDTC1_HUMAN WD and tetratricopeptide repeats 1 581 protein binding central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|skin(1) 21 all_cancers(24;3.12e-19)|all_epithelial(13;4.18e-18)|Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.00257)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966) UCEC - Uterine corpus endometrioid carcinoma (279;0.0443)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;1.02e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000544)|KIRC - Kidney renal clear cell carcinoma(1967;0.00201)|STAD - Stomach adenocarcinoma(196;0.00321)|READ - Rectum adenocarcinoma(331;0.0476) GGGATGAGTCCATTGTCAACT 0.587000 27 61 0 0 1 0 0 UPB1 51733 broad.mit.edu 37 22 24906739 24906739 + Silent SNP G G A rs149187760 TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr22:24906739G>A ENST00000413389.2 + 4 1776 c.183G>A c.(181-183)acG>acA p.T61T UPB1_ENST00000326010.5_Silent_p.T129T Q9UBR1 BUP1_HUMAN ureidopropionase, beta 129 pyrimidine base metabolic process|pyrimidine nucleoside catabolic process cytosol beta-ureidopropionase activity|metal ion binding endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 22 Colorectal(2;0.0339) CCTTCTGTACGAGAGAGAAGC 0.527000 39 114 0 0 1 0 0 NOTCH4 4855 broad.mit.edu 37 6 32163547 32163547 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:32163547G>A ENST00000375023.3 - 30 5817 c.5679C>T c.(5677-5679)gcC>gcT p.A1893A NOTCH4_ENST00000443903.2_3'UTR NM_004557.3 NP_004548.3 Q99466 NOTC4_HUMAN notch 4 1893 cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm calcium ion binding|protein heterodimerization activity|receptor activity NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1) 100 AATGAGAATAGGCCCCGCCCC 0.706000 18 71 0 0 1 0 0 ARHGEF17 9828 broad.mit.edu 37 11 73022544 73022544 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:73022544C>T ENST00000263674.3 + 1 3211 c.2861C>T c.(2860-2862)tCc>tTc p.S954F NM_014786.3 NP_055601.2 Q96PE2 ARHGH_HUMAN Rho guanine nucleotide exchange factor (GEF) 17 954 actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol Rho guanyl-nucleotide exchange factor activity endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2) 32 CGGCCCTCCTCCAGACACGTT 0.632000 45 78 0 0 1 0 0 TXLNA 200081 broad.mit.edu 37 1 32653624 32653624 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:32653624G>A ENST00000373609.1 + 4 948 c.667G>A c.(667-669)Gag>Aag p.E223K TXLNA_ENST00000373610.3_Missense_Mutation_p.E223K P40222 TXLNA_HUMAN taxilin alpha 223 cell proliferation|exocytosis cytoplasm|extracellular region cytokine activity|high molecular weight B cell growth factor receptor binding p.E223Q(1) endometrium(1)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 13 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174) GCTGGTGCAAGAGAAGGACCA 0.612000 7 24 0 0 1 0 0 SPATA7 55812 broad.mit.edu 37 14 88892585 88892585 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr14:88892585G>A ENST00000556553.1 + 6 845 c.286G>A c.(286-288)Gaa>Aaa p.E96K SPATA7_ENST00000045347.7_Missense_Mutation_p.E128K|SPATA7_ENST00000356583.5_Missense_Mutation_p.E96K|SPATA7_ENST00000393545.4_Missense_Mutation_p.E128K Q9P0W8 SPAT7_HUMAN spermatogenesis associated 7 128 response to stimulus|visual perception cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(9)|ovary(1) 18 GCCCTCAGGCGAACCGCAAAT 0.378000 12 41 0 0 1 0 0 PPM1L 151742 broad.mit.edu 37 3 160783292 160783292 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:160783292C>T ENST00000498165.1 + 3 777 c.676C>T c.(676-678)Cct>Tct p.P226S PPM1L_ENST00000480117.1_3'UTR|PPM1L_ENST00000464260.1_Missense_Mutation_p.P47S|PPM1L_ENST00000295839.9_Missense_Mutation_p.P99S NM_139245.2 NP_640338.2 Q5SGD2 PPM1L_HUMAN protein phosphatase, Mg2+/Mn2+ dependent, 1L 226 PP2C-like. protein dephosphorylation|sphingolipid metabolic process endoplasmic reticulum membrane|integral to membrane|protein serine/threonine phosphatase complex metal ion binding|protein serine/threonine phosphatase activity p.P226S(1)|p.P47S(1) breast(1)|endometrium(1)|large_intestine(4)|lung(5)|skin(1)|upper_aerodigestive_tract(1) 13 Lung(72;0.00149)|LUSC - Lung squamous cell carcinoma(72;0.00216) GAACGCTATTCCTTTGTCTCA 0.483000 41 94 0 0 1 0 0 OTUB1 55611 broad.mit.edu 37 11 63764708 63764708 + Missense_Mutation SNP T T A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:63764708T>A ENST00000541478.1 + 3 767 c.307T>A c.(307-309)Tgc>Agc p.C103S OTUB1_ENST00000428192.2_Missense_Mutation_p.C204S|OTUB1_ENST00000422031.2_Missense_Mutation_p.C241S|OTUB1_ENST00000535715.1_Missense_Mutation_p.C204S|OTUB1_ENST00000543004.1_Missense_Mutation_p.C213S|OTUB1_ENST00000538426.1_Missense_Mutation_p.C204S|OTUB1_ENST00000543988.1_Missense_Mutation_p.C174S Q96FW1 OTUB1_HUMAN OTU domain, ubiquitin aldehyde binding 1 204 OTU. protein K48-linked deubiquitination cytoplasm NEDD8-specific protease activity|omega peptidase activity|ubiquitin binding|ubiquitin-specific protease activity breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1) 6 CAAGGAGTTCTGCCAGCAGGT 0.672000 6 133 0 0 1 0 0 AGGF1 55109 broad.mit.edu 37 5 76332544 76332544 + Splice_Site SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:76332544C>T ENST00000312916.7 + 4 1062 c.681_splice c.e4+1 p.S227_splice NM_018046.4 NP_060516.2 Q8N302 AGGF1_HUMAN angiogenic factor with G patch and FHA domains 1 227 angiogenesis|cell adhesion|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|RNA processing|vasculogenesis extracellular region|perinuclear region of cytoplasm eukaryotic cell surface binding|nucleic acid binding|protein binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(2) 20 all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11) OV - Ovarian serous cystadenocarcinoma(54;4.51e-51)|Epithelial(54;2.2e-45)|all cancers(79;6.68e-41) TATTATGATTCTGTAAGTATC 0.438000 39 69 0 0 1 0 0 FLG2 388698 broad.mit.edu 37 1 152328612 152328612 + Silent SNP T T G TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:152328612T>G ENST00000388718.5 - 3 1722 c.1650A>C c.(1648-1650)tcA>tcC p.S550S FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA NM_001014342.2 NP_001014364.1 Q5D862 FILA2_HUMAN filaggrin family member 2 550 Ser-rich. calcium ion binding|structural molecule activity NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 188 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) ATGATTGACTTGAGCCAGAAC 0.488000 13 652 0 0 1 0 0 ACTL7B 10880 broad.mit.edu 37 9 111617786 111617786 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:111617786G>A ENST00000374667.3 - 1 1453 c.425C>T c.(424-426)cCc>cTc p.P142L NM_006686.3 NP_006677.1 Q9Y614 ACL7B_HUMAN actin-like 7B 142 actin cytoskeleton|cytoplasm structural constituent of cytoskeleton endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 20 GTGCTCCTCGGGGAGGATCTT 0.627000 21 71 0 0 1 0 0 TNFAIP2 7127 broad.mit.edu 37 14 103597986 103597986 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr14:103597986G>A ENST00000560869.1 + 8 1948 c.1309G>A c.(1309-1311)Gag>Aag p.E437K TNFAIP2_ENST00000451723.2_Missense_Mutation_p.E106K|TNFAIP2_ENST00000333007.1_Missense_Mutation_p.E437K Q03169 TNAP2_HUMAN tumor necrosis factor, alpha-induced protein 2 437 angiogenesis|cell differentiation extracellular space NS(1)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1) 11 Melanoma(154;0.155) Epithelial(46;0.191) GATGTCCATGGAGCAGAATTG 0.622000 12 13 0 0 1 0 0 MIR1208 100302281 broad.mit.edu 37 8 129162434 129162434 + RNA SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:129162434G>A ENST00000408334.1 + 0 73 NR_031613.1 CACTGTGGTGGGGGGGAGTGG 0.567000 38 63 0 0 1 0 0 TNKS1BP1 85456 broad.mit.edu 37 11 57076852 57076852 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:57076852C>T ENST00000532437.1 - 5 3644 c.3333G>A c.(3331-3333)cgG>cgA p.R1111R TNKS1BP1_ENST00000358252.3_Silent_p.R1111R Q9C0C2 TB182_HUMAN tankyrase 1 binding protein 1, 182kDa 1111 Acidic.|Gly-rich. nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase cytoskeleton|cytosol|nuclear telomeric heterochromatin ankyrin binding|enzyme binding breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 all_epithelial(135;0.21) TGCAGAAGTCCCGGCTCCAGT 0.577000 8 183 0 0 1 0 0 ZNF180 7733 broad.mit.edu 37 19 44980671 44980671 + Missense_Mutation SNP A A G TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:44980671A>G ENST00000221327.4 - 5 2308 c.2027T>C c.(2026-2028)cTt>cCt p.L676P ZNF180_ENST00000391956.4_Missense_Mutation_p.L651P|ZNF180_ENST00000592529.1_Missense_Mutation_p.L649P NM_013256.3 NP_037388.2 Q9UJW8 ZN180_HUMAN zinc finger protein 180 676 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(14)|lung(6)|ovary(2)|urinary_tract(1) 33 Prostate(69;0.0435) ATGCCTAATAAGTTTATAGCT 0.338000 5 145 0 0 1 0 0 VCAN 1462 broad.mit.edu 37 5 82834232 82834232 + Missense_Mutation SNP G G C rs141680853 byFrequency TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:82834232G>C ENST00000265077.3 + 8 5975 c.5410G>C c.(5410-5412)Gca>Cca p.A1804P VCAN_ENST00000502527.2_Intron|VCAN_ENST00000512590.2_Intron|VCAN_ENST00000342785.4_Intron|VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000343200.5_Missense_Mutation_p.A817P NM_004385.4 NP_004376.2 P13611 CSPG2_HUMAN versican 1804 GAG-beta. cell adhesion|cell recognition|glial cell migration extracellular space|proteinaceous extracellular matrix calcium ion binding|hyaluronic acid binding|sugar binding p.A1804fs*5(1) NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 190 Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142) OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29) AAATTTGGGGGCACAGACCAC 0.468000 50 84 0 0 1 0 0 HIF3A 64344 broad.mit.edu 37 19 46834482 46834482 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:46834482G>A ENST00000339613.2 + 13 1869 c.1614G>A c.(1612-1614)agG>agA p.R538R HIF3A_ENST00000600383.1_Silent_p.R525R|HIF3A_ENST00000300862.3_Silent_p.R592R|HIF3A_ENST00000472815.1_Intron|HIF3A_ENST00000420102.2_Silent_p.R543R|HIF3A_ENST00000377670.4_Silent_p.R594R|AC007193.10_ENST00000596807.1_RNA|HIF3A_ENST00000244303.6_Silent_p.R525R Q9Y2N7 HIF3A_HUMAN hypoxia inducible factor 3, alpha subunit 594 ODD. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|signal transducer activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(14)|prostate(1)|skin(6)|upper_aerodigestive_tract(1) 33 Ovarian(192;0.00965)|all_neural(266;0.0887) OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136) CTCCCAAAAGGTCCCCCAGCC 0.557000 28 39 0 0 1 0 0 ZNF862 643641 broad.mit.edu 37 7 149557716 149557716 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:149557716C>T ENST00000223210.4 + 7 1712 c.1467C>T c.(1465-1467)gcC>gcT p.A489A NM_001099220.1 NP_001092690.1 O60290 ZN862_HUMAN zinc finger protein 862 489 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|nucleic acid binding|protein dimerization activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(1) 34 TCTGCTCAGCCTGCATAGAAA 0.453000 74 179 0 0 1 0 0 RP11-423O2.5 0 broad.mit.edu 37 1 142803644 142803644 + RNA SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:142803644C>T ENST00000423385.1 - 0 1321 gtgttgtattctgggctagac 0.303000 11 62 0 0 1 0 0 TBC1D10C 374403 broad.mit.edu 37 11 67173401 67173401 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:67173401G>A ENST00000526387.1 + 6 529 c.491G>A c.(490-492)aGg>aAg p.R164K TBC1D10C_ENST00000542590.1_Silent_p.K165K|TBC1D10C_ENST00000312390.5_Silent_p.K165K NM_001256508.1 NP_001243437.1 Q8IV04 TB10C_HUMAN TBC1 domain family, member 10C 0 Rab-GAP TBC. intracellular Rab GTPase activator activity cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1) 16 BRCA - Breast invasive adenocarcinoma(15;2.26e-06) AGGTGCTCAAGGCCTACACCC 0.677000 5 13 0 0 1 0 0 LRRC71 149499 broad.mit.edu 37 1 156902286 156902286 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:156902286G>A ENST00000337428.7 + 14 1666 c.1512G>A c.(1510-1512)aaG>aaA p.K504K LRRC71_ENST00000490146.1_3'UTR NM_144702.2 NP_653303.2 Q8N4P6 LRC71_HUMAN leucine rich repeat containing 71 504 endometrium(2)|large_intestine(3)|lung(5)|ovary(1)|stomach(1) 12 AGTTCTCCAAGGCCAAGAGTG 0.592000 47 63 0 0 1 0 0 ADAMTS14 140766 broad.mit.edu 37 10 72434746 72434746 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:72434746G>A ENST00000373208.1 + 2 517 c.517G>A c.(517-519)Gga>Aga p.G173R ADAMTS14_ENST00000373207.1_Missense_Mutation_p.G173R NM_139155.2 NP_631894.2 Q8WXS8 ATS14_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 14 173 collagen catabolic process|proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 50 CAACTGTGACGGATTGGTAAG 0.542000 36 66 0 0 1 0 0 SUSD5 26032 broad.mit.edu 37 3 33194496 33194496 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:33194496C>T ENST00000309558.3 - 5 2045 c.1628G>A c.(1627-1629)gGa>gAa p.G543E NM_015551.1 NP_056366.1 O60279 SUSD5_HUMAN sushi domain containing 5 543 cell adhesion integral to membrane hyaluronic acid binding breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 24 GCCTTCCTGTCCAAAGAAGTC 0.577000 4 36 0 0 1 0 0 CLEC18C 283971 broad.mit.edu 37 16 70211272 70211272 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr16:70211272G>A ENST00000569347.2 + 3 599 c.345G>A c.(343-345)gcG>gcA p.A115A CLEC18C_ENST00000536907.2_Silent_p.A115A|CLEC18C_ENST00000314151.8_Silent_p.A115A|CLEC18C_ENST00000541793.2_Silent_p.A115A|CLEC18C_ENST00000561612.1_Intron NM_173619.2 NP_775890.2 C-type lectin domain family 18, member C endometrium(3)|large_intestine(6)|lung(1) 10 TGCTGCCCGCGGGCTTGGCGT 0.662000 20 93 0 0 1 0 0 CCIN 881 broad.mit.edu 37 9 36171078 36171078 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:36171078G>A ENST00000335119.2 + 1 1690 c.1579G>A c.(1579-1581)Gtg>Atg p.V527M NM_005893.2 NP_005884.2 Q13939 CALI_HUMAN calicin 527 cell differentiation|multicellular organismal development|spermatogenesis cytoskeletal calyx structural constituent of cytoskeleton breast(3)|endometrium(2)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(4) 21 STAD - Stomach adenocarcinoma(86;0.228) AGACAGCAAGGTGTTTGTATG 0.527000 40 90 0 0 1 0 0 DSP 1832 broad.mit.edu 37 6 7581754 7581754 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:7581754G>A ENST00000379802.3 + 23 5672 c.5331G>A c.(5329-5331)agG>agA p.R1777R DSP_ENST00000418664.2_Intron NM_004415.2 NP_004406.2 P15924 DESP_HUMAN desmoplakin 1777 Central fibrous rod domain. cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural constituent of cytoskeleton biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5) 101 Ovarian(93;0.0584) all_hematologic(90;0.236) OV - Ovarian serous cystadenocarcinoma(45;0.000508) AGAGAGAGAGGGAAAATTTGA 0.408000 49 178 0 0 1 0 0 TTC21A 199223 broad.mit.edu 37 3 39170378 39170378 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:39170378C>T ENST00000301819.6 + 14 2052 c.1875C>T c.(1873-1875)tcC>tcT p.S625S TTC21A_ENST00000440121.1_Silent_p.S576S|TTC21A_ENST00000431162.2_Silent_p.S624S NM_145755.2 NP_665698.2 Q8NDW8 TT21A_HUMAN tetratricopeptide repeat domain 21A 624 binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(23)|ovary(1)|prostate(1)|skin(3) 50 KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738) AGCGGGCATCCATCTTATTGG 0.557000 8 134 0 0 1 0 0 RBM47 54502 broad.mit.edu 37 4 40438622 40438622 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:40438622C>T ENST00000381793.2 - 4 1562 c.1166G>A c.(1165-1167)aGa>aAa p.R389K RBM47_ENST00000515809.1_Intron|RBM47_ENST00000381795.6_Intron|RBM47_ENST00000319592.4_Intron|RBM47_ENST00000514014.1_Missense_Mutation_p.R351K|RBM47_ENST00000295971.7_Missense_Mutation_p.R389K A0AV96 RBM47_HUMAN RNA binding motif protein 47 389 nucleus nucleotide binding|RNA binding breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1) 29 CCCTGGGGCTCTGTTGCCAGC 0.522000 83 203 0 0 1 0 0 DSCAM 1826 broad.mit.edu 37 21 41416042 41416042 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr21:41416042C>T ENST00000400454.1 - 31 5823 c.5346G>A c.(5344-5346)gaG>gaA p.E1782E NM_001389.3 NP_001380.2 O60469 DSCAM_HUMAN Down syndrome cell adhesion molecule 1782 cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction protein binding NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4) 142 all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103) AACTGTCGCTCTCTTTGTCTA 0.637000 40 94 0 0 1 0 0 ACSL3 2181 broad.mit.edu 37 2 223773609 223773609 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:223773609C>T ENST00000357430.3 + 4 650 c.119C>T c.(118-120)cCg>cTg p.P40L ACSL3_ENST00000392066.3_Missense_Mutation_p.P40L NM_004457.3 NP_004448.2 O95573 ACSL3_HUMAN acyl-CoA synthetase long-chain family member 3 40 long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane ATP binding|fatty-acyl-CoA synthase activity|long-chain fatty acid-CoA ligase activity|protein binding cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|prostate(1)|skin(2) 22 Renal(207;0.0183) Epithelial(121;1.28e-10)|all cancers(144;8.06e-08)|Lung(261;0.00834)|LUSC - Lung squamous cell carcinoma(224;0.00864) Icosapent(DB00159) ACATACATTCCGTTTTATTTT 0.289000 T ETV1 prostate 12 195 0 0 1 0 0 PIK3R3 8503 broad.mit.edu 37 1 46527632 46527632 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:46527632G>A ENST00000262741.5 - 6 1422 c.733C>T c.(733-735)Cgc>Tgc p.R245C PIK3R3_ENST00000372006.1_Missense_Mutation_p.R245C|PIK3R3_ENST00000423209.1_Missense_Mutation_p.R245C|PIK3R3_ENST00000540385.1_Missense_Mutation_p.R291C|PIK3R3_ENST00000354242.4_Missense_Mutation_p.R245C|PIK3R3_ENST00000340332.6_Missense_Mutation_p.R209C|PIK3R3_ENST00000420542.1_Missense_Mutation_p.R245C NM_003629.3 NP_003620.3 Q92569 P55G_HUMAN phosphoinositide-3-kinase, regulatory subunit 3 (gamma) 245 insulin receptor signaling pathway|platelet activation|T cell costimulation 1-phosphatidylinositol-3-kinase activity|protein binding endometrium(1)|large_intestine(5)|lung(6)|prostate(2) 14 Acute lymphoblastic leukemia(166;0.155) CCCTCTCTGCGAAATCGCTCA 0.378000 14 329 0 0 1 0 0 ACKR2 1238 broad.mit.edu 37 3 42906606 42906606 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:42906606C>T ENST00000422265.1 + 3 787 c.612C>T c.(610-612)acC>acT p.T204T ACKR2_ENST00000273145.2_Silent_p.T204T|KRBOX1_ENST00000426937.1_Intron|ACKR2_ENST00000442925.1_Silent_p.T204T|CYP8B1_ENST00000437102.1_Intron|ACKR2_ENST00000471537.1_Intron NM_001296.4 NP_001287.2 atypical chemokine receptor 2 GGCATGGGACCATTTGGAAGC 0.527000 12 257 0 0 1 0 0 OR10G9 219870 broad.mit.edu 37 11 123893862 123893862 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:123893862G>A ENST00000375024.1 + 1 143 c.143G>A c.(142-144)aGg>aAg p.R48K NM_001001953.1 NP_001001953.1 Q8NGN4 O10G9_HUMAN olfactory receptor, family 10, subfamily G, member 9 48 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(33)|prostate(2)|skin(4)|stomach(8)|urinary_tract(1) 61 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399) CTGGTGATCAGGGTGGATTCT 0.557000 7 98 0 0 1 0 0 SYNJ1 8867 broad.mit.edu 37 21 34003985 34003985 + Missense_Mutation SNP G G T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr21:34003985G>T ENST00000382491.3 - 28 4025 c.3901C>A c.(3901-3903)Ccc>Acc p.P1301T SYNJ1_ENST00000433931.2_Missense_Mutation_p.P1387T|SYNJ1_ENST00000357345.3_3'UTR|SYNJ1_ENST00000382499.2_3'UTR|SYNJ1_ENST00000322229.7_Missense_Mutation_p.P1348T NM_001160306.1 NP_001153778.1 O43426 SYNJ1_HUMAN synaptojanin 1 1348 Pro-rich. inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 57 TCTGGGGTGGGAACAGGTGAC 0.428000 8 66 0.0381472 0.0381732 1 1 0 ABCA4 24 broad.mit.edu 37 1 94502771 94502771 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:94502771C>T ENST00000370225.3 - 25 3829 c.3743G>A c.(3742-3744)aGa>aAa p.R1248K NM_000350.2 NP_000341.2 P78363 ABCA4_HUMAN ATP-binding cassette, sub-family A (ABC1), member 4 1248 phototransduction, visible light|visual perception integral to plasma membrane|membrane fraction ATP binding|ATPase activity, coupled to transmembrane movement of substances NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2) 147 all_lung(203;0.000757)|Lung NSC(277;0.00335) all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171) CTCCAGCTCTCTGAAAAGGCT 0.478000 57 132 0 0 1 0 0 FAM115C 285966 broad.mit.edu 37 7 143421801 143421801 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:143421801G>A ENST00000444908.2 + 7 2601 c.2516G>A c.(2515-2517)aGa>aAa p.R839K FAM115C_ENST00000425618.2_Missense_Mutation_p.R558K|FAM115C_ENST00000411497.2_Missense_Mutation_p.R558K|FAM115C_ENST00000357344.4_Missense_Mutation_p.R839K|FAM115C_ENST00000409703.3_Intron|FAM115C_ENST00000411935.1_Intron|FAM115C_ENST00000441159.2_Intron NM_001130025.1 NP_001123497.1 A6NFQ2 F115C_HUMAN family with sequence similarity 115, member C 0 endometrium(2)|large_intestine(4)|lung(2)|prostate(1) 9 GTACTGAGCAGAAATTCTGGG 0.577000 5 143 0 0 1 0 0 TRIM7 81786 broad.mit.edu 37 5 180630571 180630571 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:180630571C>T ENST00000274773.7 - 2 653 c.592G>A c.(592-594)Gaa>Aaa p.E198K TRIM7_ENST00000334421.5_Missense_Mutation_p.E198K|TRIM7_ENST00000393315.1_5'UTR|TRIM7_ENST00000361809.3_5'UTR|TRIM7_ENST00000422067.2_5'UTR NM_203293.1 NP_976038.1 Q9C029 TRIM7_HUMAN tripartite motif containing 7 198 cytoplasm|nucleus zinc ion binding NS(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)|stomach(1) 17 all_cancers(89;6.03e-06)|all_epithelial(37;7.1e-07)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684) all_cancers(40;0.000172)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;2e-06)|Epithelial(171;1.35e-05)|OV - Ovarian serous cystadenocarcinoma(192;0.000128)|Kidney(146;0.0674)|GBM - Glioblastoma multiforme(465;0.0802) TCCTTCTTTTCCGTGGACCGG 0.582000 13 99 0 0 1 0 0 FGD5 152273 broad.mit.edu 37 3 14949176 14949176 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:14949176G>A ENST00000285046.5 + 10 3404 c.3294G>A c.(3292-3294)gaG>gaA p.E1098E FGD5_ENST00000543601.1_Silent_p.E857E|FGD5_ENST00000476851.1_3'UTR NM_152536.3 NP_689749.3 Q6ZNL6 FGD5_HUMAN FYVE, RhoGEF and PH domain containing 5 1098 actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape cytoskeleton|Golgi apparatus|lamellipodium|ruffle metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1) 54 TCCACATTGAGCACAGCGTCC 0.632000 13 35 0 0 1 0 0 NXPE4 54827 broad.mit.edu 37 11 114453046 114453046 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:114453046G>A ENST00000375478.3 - 3 974 c.794C>T c.(793-795)tCt>tTt p.S265F NXPE4_ENST00000424261.2_Intron NM_001077639.1 NP_001071107.1 neurexophilin and PC-esterase domain family, member 4 GCTAAGATAAGAAACTTTCTT 0.398000 38 20 0 0 1 0 0 MYOM2 9172 broad.mit.edu 37 8 2021531 2021531 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:2021531C>T ENST00000262113.4 + 10 1212 c.1071C>T c.(1069-1071)atC>atT p.I357I MYOM2_ENST00000523438.1_Intron NM_003970.2 NP_003961.2 P54296 MYOM2_HUMAN myomesin 2 357 Ig-like C2-type 2. muscle contraction myosin filament structural constituent of muscle autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3) 104 Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217) BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179) CCCTGCGCATCGTGTCTCGGG 0.627000 22 42 0 0 1 0 0 RPS6KC1 26750 broad.mit.edu 37 1 213445947 213445947 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:213445947C>T ENST00000366960.3 + 15 3321 c.3171C>T c.(3169-3171)acC>acT p.T1057T RPS6KC1_ENST00000543470.1_Silent_p.T845T|RPS6KC1_ENST00000366959.3_Silent_p.T1045T|RPS6KC1_ENST00000490299.1_3'UTR NM_012424.3 NP_036556.2 Q96S38 KS6C1_HUMAN ribosomal protein S6 kinase, 52kDa, polypeptide 1 1057 cell communication|signal transduction early endosome|membrane ATP binding|phosphatidylinositol binding|protein binding|protein serine/threonine kinase activity breast(1)|endometrium(6)|kidney(4)|large_intestine(8)|liver(2)|lung(15)|ovary(3)|prostate(1)|urinary_tract(3) 43 OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145) CATTTTTTACCCCTGTGGATT 0.453000 22 80 0 0 1 0 0 OR5K4 403278 broad.mit.edu 37 3 98072955 98072955 + Missense_Mutation SNP T T A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:98072955T>A ENST00000354924.2 + 1 258 c.258T>A c.(256-258)ttT>ttA p.F86L RP11-325B23.2_ENST00000508616.1_lincRNA NM_001005517.1 NP_001005517.1 A6NMS3 OR5K4_HUMAN olfactory receptor, family 5, subfamily K, member 4 86 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1) 21 AGAATTTCTTTTCTGAGGATA 0.433000 7 471 0 0 1 0 0 EPPK1 83481 broad.mit.edu 37 8 144940678 144940678 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:144940678G>A ENST00000525985.1 - 2 6815 c.6744C>T c.(6742-6744)gcC>gcT p.A2248A P58107 EPIPL_HUMAN epiplakin 1 2248 cytoplasm|cytoskeleton protein binding|structural molecule activity p.A2248A(1) NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) CCTTCCACATGGCCTGGTAGA 0.706000 8 169 0 0 1 0 0 ZCCHC7 84186 broad.mit.edu 37 9 37357032 37357032 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:37357032C>T ENST00000336755.5 + 9 1505 c.1399C>T c.(1399-1401)Cgt>Tgt p.R467C ZCCHC7_ENST00000461038.1_3'UTR|ZCCHC7_ENST00000534928.1_Missense_Mutation_p.R177C NM_032226.2 NP_115602.2 Q8N3Z6 ZCHC7_HUMAN zinc finger, CCHC domain containing 7 467 nucleic acid binding|zinc ion binding central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 30 GBM - Glioblastoma multiforme(29;0.0137) TGACAGACATCGTGAAGTGGA 0.443000 23 58 0 0 1 0 0 PAXIP1 22976 broad.mit.edu 37 7 154767930 154767930 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:154767930G>A ENST00000404141.1 - 6 704 c.550C>T c.(550-552)Cgt>Tgt p.R184C PAXIP1_ENST00000473219.1_5'UTR|PAXIP1_ENST00000397192.1_Missense_Mutation_p.R184C Q6ZW49 PAXI1_HUMAN PAX interacting (with transcription-activation domain) protein 1 184 DNA damage response, signal transduction by p53 class mediator|DNA recombination|DNA repair|histone H3-K4 methylation|positive regulation of histone acetylation|positive regulation of histone H3-K36 methylation|positive regulation of histone H3-K4 methylation|positive regulation of isotype switching|positive regulation of protein ubiquitination|positive regulation of transcription initiation from RNA polymerase II promoter|response to ionizing radiation|transcription, DNA-dependent histone methyltransferase complex|nuclear matrix NS(1)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1) 33 all_neural(206;0.119) all_hematologic(28;0.0592) OV - Ovarian serous cystadenocarcinoma(82;0.0296) UCEC - Uterine corpus endometrioid carcinoma (81;0.178) ATAATCAGACGAGGATGATAA 0.398000 19 46 0 0 1 0 0 CLEC4G 339390 broad.mit.edu 37 19 7794790 7794790 + Silent SNP A A C TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:7794790A>C ENST00000328853.5 - 8 728 c.660T>G c.(658-660)ggT>ggG p.G220G NM_001244856.1|NM_198492.3 NP_001231785.1|NP_940894.1 Q6UXB4 CLC4G_HUMAN C-type lectin domain family 4, member G 220 C-type lectin. integral to membrane protein binding|sugar binding breast(1)|cervix(2)|endometrium(1)|large_intestine(1)|lung(1) 6 CCAGCCAGTAACCACGGCCAC 0.657000 36 77 0 0 1 0 0 C16orf62 57020 broad.mit.edu 37 16 19680597 19680597 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr16:19680597C>T ENST00000438132.3 + 27 2652 c.2604C>T c.(2602-2604)ttC>ttT p.F868F C16orf62_ENST00000251143.5_Silent_p.F779F|C16orf62_ENST00000448695.1_Silent_p.F629F|C16orf62_ENST00000542263.1_Silent_p.F775F|C16orf62_ENST00000417362.2_Silent_p.F686F|C16orf62_ENST00000543152.1_Silent_p.F528F NM_020314.5 NP_064710.4 Q7Z3J2 CP062_HUMAN chromosome 16 open reading frame 62 779 integral to membrane breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2) 36 TCTGCAATTTCTTTTCTACTT 0.418000 13 74 0 0 1 0 0 CHRNB4 1143 broad.mit.edu 37 15 78921894 78921894 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr15:78921894G>A ENST00000261751.3 - 5 864 c.753C>T c.(751-753)atC>atT p.I251I CHRNB4_ENST00000412074.2_Intron NM_000750.3 NP_000741.1 P30926 ACHB4_HUMAN cholinergic receptor, nicotinic, beta 4 (neuronal) 251 regulation of neurotransmitter secretion|synaptic transmission involved in micturition|synaptic transmission, cholinergic cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity endometrium(7)|kidney(1)|lung(13)|prostate(1) 22 AGAAGACGAGGATGGCCAGCA 0.547000 55 95 0 0 1 0 0 POTEF 728378 broad.mit.edu 37 2 130832275 130832275 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:130832275C>T ENST00000357462.5 - 15 2863 c.2770G>A c.(2770-2772)Gag>Aag p.E924K POTEF_ENST00000409914.2_Missense_Mutation_p.E924K A5A3E0 POTEF_HUMAN POTE ankyrin domain family, member F 924 Actin-like. cell cortex ATP binding breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1) 53 ATCTCCTGCTCGAAGTCCAGG 0.592000 38 61 0 0 1 0 0 GGT5 2687 broad.mit.edu 37 22 24621543 24621543 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr22:24621543G>A ENST00000327365.4 - 9 1723 c.1307C>T c.(1306-1308)cCc>cTc p.P436L GGT5_ENST00000263112.7_Missense_Mutation_p.P404L|GGT5_ENST00000418439.2_Missense_Mutation_p.P359L|GGT5_ENST00000398292.3_Missense_Mutation_p.P436L NM_001099781.1|NM_004121.2 NP_001093251.1|NP_004112.2 P36269 GGT5_HUMAN gamma-glutamyltransferase 5 436 glutathione biosynthetic process|hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process integral to membrane|plasma membrane acyltransferase activity|gamma-glutamyltransferase activity breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(3)|skin(3) 28 GGAACCCCGGGGGCATCGCTC 0.647000 15 40 0 0 1 0 0 ZNF239 8187 broad.mit.edu 37 10 44052973 44052973 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:44052973C>T ENST00000306006.6 - 2 1207 c.555G>A c.(553-555)ggG>ggA p.G185G ZNF239_ENST00000374446.2_Silent_p.G185G|ZNF239_ENST00000535642.1_Silent_p.G185G|ZNF239_ENST00000426961.1_Silent_p.G185G NM_005674.2 NP_005665.2 Q16600 ZN239_HUMAN zinc finger protein 239 185 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|RNA binding|zinc ion binding endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 TAAGTATTTTCCCACAGTTAT 0.423000 16 185 0 0 1 0 0 PTCHD1 139411 broad.mit.edu 37 X 23411477 23411477 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chrX:23411477G>A ENST00000379361.4 + 3 2702 c.1842G>A c.(1840-1842)agG>agA p.R614R NM_173495.2 NP_775766.2 Q96NR3 PTHD1_HUMAN patched domain containing 1 614 cognition|smoothened signaling pathway integral to membrane|plasma membrane hedgehog receptor activity NS(1)|breast(4)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(4)|skin(2)|urinary_tract(2) 42 ACATGTTGAGGAATTCCTTTC 0.393000 84 37 0 0 1 0 0 FIS1 51024 broad.mit.edu 37 7 100883131 100883131 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:100883131G>A ENST00000223136.4 - 5 495 c.415C>T c.(415-417)Ctg>Ttg p.L139L FIS1_ENST00000442303.1_3'UTR|FIS1_ENST00000482199.1_5'UTR|FIS1_ENST00000474120.1_3'UTR NM_016068.2 NP_057152.2 Q9Y3D6 FIS1_HUMAN fission 1 (mitochondrial outer membrane) homolog (S. cerevisiae) 139 apoptosis|mitochondrial fission|peroxisome fission integral to mitochondrial outer membrane|integral to peroxisomal membrane protein binding kidney(1)|large_intestine(2)|lung(1) 4 Lung NSC(181;0.168)|all_lung(186;0.215) AGTCCGGCCAGTCCCGCCACA 0.647000 7 18 0 0 1 0 0 RLTPR 146206 broad.mit.edu 37 16 67690508 67690508 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr16:67690508G>A ENST00000334583.6 + 35 4324 c.3996G>A c.(3994-3996)ctG>ctA p.L1332L RLTPR_ENST00000545661.1_Silent_p.L1296L NM_001013838.1 NP_001013860.1 Q6F5E8 LR16C_HUMAN RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing 1332 Pro-rich. breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2) 18 Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232) CAGACAGCCTGGGCCTCCCAG 0.652000 27 39 0 0 1 0 0 GCSAML 148823 broad.mit.edu 37 1 247712510 247712510 + Missense_Mutation SNP T T C TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:247712510T>C ENST00000366491.2 + 4 514 c.17T>C c.(16-18)cTg>cCg p.L6P GCSAML_ENST00000366488.4_Missense_Mutation_p.L6P|GCSAML_ENST00000536561.1_Missense_Mutation_p.L6P|GCSAML_ENST00000527541.1_Intron|GCSAML_ENST00000366489.1_Missense_Mutation_p.L6P|GCSAML_ENST00000527084.1_Intron|GCSAML_ENST00000366490.3_Missense_Mutation_p.C127R|GCSAML_ENST00000463359.1_Intron germinal center-associated, signaling and motility-like AATTATCTCCTGCGAAAACTC 0.468000 26 87 0 0 1 0 0 TRPM3 80036 broad.mit.edu 37 9 73399022 73399022 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:73399022C>T ENST00000361823.5 - 7 1013 c.688G>A c.(688-690)Ggg>Agg p.G230R TRPM3_ENST00000396283.1_Splice_Site_p.G255_splice|TRPM3_ENST00000423814.3_Splice_Site_p.G410_splice|TRPM3_ENST00000377105.1_Splice_Site_p.G230_splice|TRPM3_ENST00000358082.3_Splice_Site_p.G255_splice|TRPM3_ENST00000396280.5_Splice_Site_p.G230_splice|TRPM3_ENST00000357533.2_Splice_Site_p.G385_splice|TRPM3_ENST00000377111.2_Splice_Site_p.G383_splice|TRPM3_ENST00000396285.1_Splice_Site_p.G230_splice|TRPM3_ENST00000360823.2_Splice_Site_p.G255_splice|TRPM3_ENST00000377106.1_Splice_Site_p.G255_splice|TRPM3_ENST00000377101.1_Splice_Site_p.G230_splice|TRPM3_ENST00000396292.4_Splice_Site_p.G255_splice|TRPM3_ENST00000408909.2_Splice_Site_p.G230_splice|TRPM3_ENST00000377110.2_Splice_Site_p.G383_splice NM_001007470.1|NM_206948.2 NP_001007471.1|NP_996831.1 Q9HCF6 TRPM3_HUMAN transient receptor potential cation channel, subfamily M, member 3 408 integral to membrane calcium channel activity NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1) 95 GTTACCTACCCGCCTTCTTCT 0.517000 31 59 0 0 1 0 0 OR51E1 143503 broad.mit.edu 37 11 4674042 4674042 + Nonsense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:4674042C>T ENST00000396952.5 + 2 936 c.286C>T c.(286-288)Cag>Tag p.Q96* OR51E1_ENST00000530215.1_Intron NM_152430.3 NP_689643.2 Q8TCB6 O51E1_HUMAN olfactory receptor, family 51, subfamily E, member 1 95 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|skin(1)|stomach(2) 30 Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227) Epithelial(150;7.37e-14)|GBM - Glioblastoma multiforme(2;2.85e-05)|BRCA - Breast invasive adenocarcinoma(625;0.00222)|LUSC - Lung squamous cell carcinoma(625;0.19) CACTACCATCCAGTTTGATGC 0.473000 35 29 0 0 1 0 0 NFATC4 4776 broad.mit.edu 37 14 24845840 24845840 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr14:24845840C>T ENST00000413692.2 + 10 2730 c.2586C>T c.(2584-2586)ttC>ttT p.F862F NFATC4_ENST00000554344.1_Silent_p.F729F|NFATC4_ENST00000555802.1_Silent_p.F87F|NFATC4_ENST00000557767.1_Intron|NFATC4_ENST00000554473.1_Intron|NFATC4_ENST00000555590.1_Silent_p.F812F|NFATC4_ENST00000554591.1_Intron|NFATC4_ENST00000557451.1_Silent_p.F729F|NFATC4_ENST00000553879.1_Silent_p.F729F|NFATC4_ENST00000556169.1_Intron|NFATC4_ENST00000556759.1_Silent_p.F334F|NFATC4_ENST00000556279.1_Silent_p.F831F|NFATC4_ENST00000554661.1_Intron|NFATC4_ENST00000539237.2_Silent_p.F831F|NFATC4_ENST00000553469.1_Intron|NFATC4_ENST00000554966.1_Intron|NFATC4_ENST00000555167.1_Silent_p.F334F|NFATC4_ENST00000424781.2_Silent_p.F812F|NFATC4_ENST00000422617.3_Silent_p.F787F|NFATC4_ENST00000554050.1_Intron|NFATC4_ENST00000250373.4_Silent_p.F799F|NFATC4_ENST00000553708.1_Silent_p.F799F|NFATC4_ENST00000555393.1_Silent_p.F87F|NFATC4_ENST00000555453.1_Silent_p.F787F NM_001136022.1|NM_001198967.1 NP_001129494.1|NP_001185896.1 Q14934 NFAC4_HUMAN nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4 799 cell differentiation|inflammatory response|transcription from RNA polymerase II promoter cytoplasm|intermediate filament cytoskeleton|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(7)|liver(4)|lung(12)|ovary(1)|skin(2) 34 GBM - Glioblastoma multiforme(265;0.018) GCTCCTCTTTCTCCCTGGGGC 0.637000 84 139 0 0 1 0 0 ZFP37 7539 broad.mit.edu 37 9 115805223 115805223 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:115805223G>A ENST00000374227.3 - 4 1702 c.1675C>T c.(1675-1677)Cac>Tac p.H559Y ZFP37_ENST00000553380.1_Missense_Mutation_p.H574Y|ZFP37_ENST00000555206.1_Missense_Mutation_p.H560Y Q9Y6Q3 ZFP37_HUMAN ZFP37 zinc finger protein 559 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 38 ACAATGAGGTGAGACTTTTGG 0.378000 42 86 0 0 1 0 0 ARHGAP22 58504 broad.mit.edu 37 10 49791178 49791178 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:49791178C>T ENST00000249601.4 - 2 350 c.54G>A c.(52-54)gtG>gtA p.V18V ARHGAP22_ENST00000435790.2_Silent_p.V24V|ARHGAP22_ENST00000491108.1_5'UTR|ARHGAP22_ENST00000417912.2_Silent_p.V18V NM_001256024.1|NM_021226.3 NP_001242953.1|NP_067049.2 Q7Z5H3 RHG22_HUMAN Rho GTPase activating protein 22 18 angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent cytosol|nucleus GTPase activator activity endometrium(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 GCTCCCCCATCACTAGGCTTT 0.637000 105 193 0 0 1 0 0 FRMPD2 143162 broad.mit.edu 37 10 49371685 49371685 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:49371685G>A ENST00000374201.3 - 28 3869 c.3567C>T c.(3565-3567)ttC>ttT p.F1189F FRMPD2_ENST00000474573.1_Silent_p.F141F|FRMPD2_ENST00000305531.3_Silent_p.F1164F|FRMPD2_ENST00000407470.4_Silent_p.F1157F|FRMPD2_ENST00000463706.1_5'UTR NM_001018071.3 NP_001018081.3 Q68DX3 FRPD2_HUMAN FERM and PDZ domain containing 2 1189 tight junction assembly basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction 1-phosphatidylinositol binding|protein binding NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1) 66 Kidney(211;0.201) TTGCCCTGGTGAATTCTTTGT 0.473000 5 214 0 0 1 0 0 ZNF146 7705 broad.mit.edu 37 19 36727558 36727558 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:36727558C>T ENST00000456324.1 + 3 1665 c.216C>T c.(214-216)ttC>ttT p.F72F ZNF146_ENST00000443387.2_Silent_p.F72F|ZNF565_ENST00000355114.5_Intron NM_001099638.1|NM_001099639.1 NP_001093108.1|NP_001093109.1 Q15072 OZF_HUMAN zinc finger protein 146 72 regulation of transcription, DNA-dependent cytoplasm|nucleolus DNA binding|heparin binding|zinc ion binding kidney(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 11 Esophageal squamous(110;0.162) AGAAGCTTTTCGAATGTAATG 0.398000 55 100 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179496982 179496982 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:179496982C>T ENST00000589042.1 - 236 43863 c.43639G>A c.(43639-43641)Gaa>Aaa p.E14547K TTN_ENST00000359218.5_Missense_Mutation_p.E5607K|TTN_ENST00000591111.1_Missense_Mutation_p.E12906K|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E11979K|TTN_ENST00000460472.2_Missense_Mutation_p.E5482K|TTN_ENST00000342175.6_Missense_Mutation_p.E5674K|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589907.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 12906 Fibronectin type-III 5. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GTTTTCCCTTCGTCTTGCATT 0.433000 9 15 0 0 1 0 0 SUPT5H 6829 broad.mit.edu 37 19 39966958 39966958 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:39966958G>A ENST00000599117.1 + 31 3550 c.3183G>A c.(3181-3183)gaG>gaA p.E1061E SUPT5H_ENST00000432763.2_Silent_p.E1061E|SUPT5H_ENST00000598725.1_Silent_p.E1061E|SUPT5H_ENST00000402194.2_Silent_p.E1057E|SUPT5H_ENST00000359191.6_Silent_p.E1057E O00267 SPT5H_HUMAN suppressor of Ty 5 homolog (S. cerevisiae) 1061 cell cycle|chromatin remodeling|mRNA capping|negative regulation of transcription elongation, DNA-dependent|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription elongation from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|response to organic substance|retroviral genome replication|transcription elongation from RNA polymerase II promoter nucleoplasm enzyme binding|protein heterodimerization activity breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(13)|lung(12)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1) 51 all_cancers(60;6.69e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;1.57e-06)|Ovarian(47;0.159) Epithelial(26;3.9e-26)|all cancers(26;1.35e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657) TTGATGGTGAGGATGGCATTG 0.597000 33 84 0 0 1 0 0 TRERF1 55809 broad.mit.edu 37 6 42232458 42232458 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:42232458G>A ENST00000541110.1 - 7 2187 c.1619C>T c.(1618-1620)tCc>tTc p.S540F TRERF1_ENST00000340840.2_Missense_Mutation_p.S540F|TRERF1_ENST00000354325.2_Missense_Mutation_p.S540F|TRERF1_ENST00000372917.4_Missense_Mutation_p.S540F|TRERF1_ENST00000372922.4_Missense_Mutation_p.S540F Q96PN7 TREF1_HUMAN transcriptional regulating factor 1 540 Interacts with CREBBP. cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process nucleus DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2) 45 Colorectal(47;0.196) Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152) GAGGTTGGGGGAGGCCCTCAT 0.567000 30 122 0 0 1 0 0 MICAL3 57553 broad.mit.edu 37 22 18300419 18300419 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr22:18300419C>T ENST00000441493.2 - 26 5360 c.5008G>A c.(5008-5010)Gag>Aag p.E1670K NM_015241.2 NP_056056.2 Q7RTP6 MICA3_HUMAN microtubule associated monooxygenase, calponin and LIM domain containing 3 1670 cytoplasm|cytoskeleton monooxygenase activity|zinc ion binding large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 4 all_epithelial(15;0.198) Lung(27;0.0427) AGGACCTCCTCGCTGGTGGCT 0.657000 10 22 0 0 1 0 0 MANEAL 149175 broad.mit.edu 37 1 38265374 38265374 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:38265374G>A ENST00000373045.6 + 4 1254 c.873G>A c.(871-873)tcG>tcA p.S291S MANEAL_ENST00000397631.3_Intron|MANEAL_ENST00000329006.5_Silent_p.S69S|MANEAL_ENST00000525897.1_Silent_p.S97S NM_001113482.1 NP_001106954.1 Q5VSG8 MANEL_HUMAN mannosidase, endo-alpha-like 291 Golgi membrane|integral to membrane hydrolase activity endometrium(1)|large_intestine(1)|liver(1)|lung(1)|prostate(3) 7 Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197) Myeloproliferative disorder(586;0.0255) GGCCCCATTCGATCCGCAACA 0.597000 5 201 0 0 1 0 0 SLC16A9 220963 broad.mit.edu 37 10 61443964 61443964 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:61443964G>A ENST00000395348.3 - 2 722 c.86C>T c.(85-87)tCc>tTc p.S29F SLC16A9_ENST00000395347.1_Missense_Mutation_p.S29F|SLC16A9_ENST00000490066.1_5'UTR NM_194298.2 NP_919274.1 Q7RTY1 MOT9_HUMAN solute carrier family 16, member 9 29 urate metabolic process integral to membrane|plasma membrane symporter activity kidney(3)|large_intestine(5)|lung(5)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 23 AGCTAGTGGGGATCCGTAACA 0.478000 58 149 0 0 1 0 0 SV2B 9899 broad.mit.edu 37 15 91832881 91832881 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr15:91832881C>T ENST00000394232.1 + 12 2309 c.1839C>T c.(1837-1839)atC>atT p.I613I SV2B_ENST00000545111.2_Silent_p.I462I|SV2B_ENST00000330276.4_Silent_p.I613I NM_014848.4 NP_055663.1 Q7L1I2 SV2B_HUMAN synaptic vesicle glycoprotein 2B 613 neurotransmitter transport acrosomal vesicle|cell junction|integral to membrane|synaptic vesicle membrane transmembrane transporter activity NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(17)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 42 Lung NSC(78;0.0987)|all_lung(78;0.172) BRCA - Breast invasive adenocarcinoma(143;0.0895) TGGATGTGATCACAGTGGAGC 0.527000 27 48 0 0 1 0 0 CCDC163P 126661 broad.mit.edu 37 1 45960755 45960755 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:45960755G>A ENST00000432082.1 - 5 778 c.414C>T c.(412-414)tcC>tcT p.S138S CCDC163P_ENST00000490551.3_3'UTR|CCDC163P_ENST00000502793.2_5'UTR cervix(1)|endometrium(1) 2 GGGCCCCAAAGGAATAGGTCC 0.507000 52 83 0 0 1 0 0 CST8 10047 broad.mit.edu 37 20 23472403 23472403 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr20:23472403G>A ENST00000246012.1 + 2 456 c.99G>A c.(97-99)agG>agA p.R33R NM_005492.2 NP_005483.1 O60676 CST8_HUMAN cystatin 8 (cystatin-related epididymal specific) 33 extracellular region cysteine-type endopeptidase inhibitor activity breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(9)|skin(2) 16 Colorectal(13;0.0431)|Lung NSC(19;0.235) GGGTGCTGAGGAAATTAAAAC 0.527000 19 185 0 0 1 0 0 COG7 91949 broad.mit.edu 37 16 23404643 23404643 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr16:23404643G>A ENST00000307149.5 - 15 2098 c.1913C>T c.(1912-1914)cCc>cTc p.P638L COG7_ENST00000569635.1_Intron NM_153603.3 NP_705831.1 P83436 COG7_HUMAN component of oligomeric golgi complex 7 638 intracellular protein transport|protein glycosylation|protein localization in Golgi apparatus|protein stabilization|retrograde vesicle-mediated transport, Golgi to ER Golgi membrane|Golgi transport complex protein binding breast(1)|central_nervous_system(1)|endometrium(7)|large_intestine(9)|liver(1)|lung(7)|urinary_tract(1) 27 GBM - Glioblastoma multiforme(48;0.0401) AAGATTCAGGGGGAGGGACAT 0.488000 24 52 0 0 1 0 0 PZP 5858 broad.mit.edu 37 12 9309839 9309839 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:9309839G>A ENST00000261336.2 - 28 3510 c.3482C>T c.(3481-3483)tCc>tTc p.S1161F PZP_ENST00000381997.2_Missense_Mutation_p.S947F NM_002864.2 NP_002855.2 pregnancy-zone protein p.S947F(1)|p.S1161F(1) breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5) 102 TCCCAGTAGGGAAAAAGCATA 0.478000 46 88 0 0 1 0 0 MYH13 8735 broad.mit.edu 37 17 10261133 10261133 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:10261133C>T ENST00000418404.3 - 7 820 c.657G>A c.(655-657)gaG>gaA p.E219E MYH13_ENST00000252172.4_Silent_p.E219E|MYH13_ENST00000570743.1_Silent_p.E219E Q9UKX3 MYH13_HUMAN myosin, heavy chain 13, skeletal muscle 219 Myosin head-like. muscle contraction muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|microfilament motor activity breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2) 108 TGATCTGATCCTCTAGGGTTC 0.458000 30 90 0 0 1 0 0 OR2T4 127074 broad.mit.edu 37 1 248525363 248525363 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:248525363C>T ENST00000366475.1 + 1 481 c.481C>T c.(481-483)Cct>Tct p.P161S NM_001004696.1 NP_001004696.1 Q8NH00 OR2T4_HUMAN olfactory receptor, family 2, subfamily T, member 4 161 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47) 56 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) CATCTGCCATCCTCTCCGTTA 0.522000 165 133 0 0 1 0 0 TEX29 121793 broad.mit.edu 37 13 111980541 111980541 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr13:111980541C>T ENST00000283547.1 + 3 199 c.70C>T c.(70-72)Cct>Tct p.P24S NM_152324.1 NP_689537.1 Q8N6K0 CM016_HUMAN testis expressed 29 24 integral to membrane GTGTGACGTTCCTCTGTATGA 0.542000 30 28 0 0 1 0 0 TRIM48 79097 broad.mit.edu 37 11 55032688 55032688 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:55032688C>T ENST00000417545.2 + 2 443 c.357C>T c.(355-357)ttC>ttT p.F119F NM_024114.3 NP_077019.2 Q8IWZ4 TRI48_HUMAN tripartite motif containing 48 103 intracellular zinc ion binding endometrium(13)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 38 AGAAGATGTTCTGTGAAGTGG 0.532000 6 107 0 0 1 0 0 DPF3 8110 broad.mit.edu 37 14 73198541 73198541 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr14:73198541C>T ENST00000541685.1 - 4 415 c.403G>A c.(403-405)Gag>Aag p.E135K DPF3_ENST00000556509.1_Missense_Mutation_p.E135K|DPF3_ENST00000546183.1_Missense_Mutation_p.E145K NM_012074.3 NP_036206.3 Q92784 DPF3_HUMAN D4, zinc and double PHD fingers, family 3 135 chromatin modification|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nBAF complex nucleic acid binding|zinc ion binding central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1) 22 BRCA - Breast invasive adenocarcinoma(234;0.00649)|OV - Ovarian serous cystadenocarcinoma(108;0.0654) CTTTCCTCCTCCCTGGCATCC 0.582000 13 22 0 0 1 0 0 AKAP10 11216 broad.mit.edu 37 17 19839734 19839734 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:19839734G>A ENST00000225737.6 - 9 1489 c.1332C>T c.(1330-1332)tcC>tcT p.S444S AKAP10_ENST00000395536.3_Silent_p.S444S NM_007202.3 NP_009133.2 O43572 AKA10_HUMAN A kinase (PRKA) anchor protein 10 444 RGS 2. blood coagulation|protein localization cytosol|mitochondrion|plasma membrane signal transducer activity NS(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2) 21 all_cancers(12;2.08e-05)|all_epithelial(12;0.00158)|Breast(13;0.165) TGGCTTGGAGGGAGAAGTACC 0.413000 21 32 0 0 1 0 0 NEFM 4741 broad.mit.edu 37 8 24775074 24775074 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:24775074G>A ENST00000221166.5 + 3 2488 c.1706G>A c.(1705-1707)gGa>gAa p.G569E NEFM_ENST00000437366.2_Missense_Mutation_p.G569E|NEFM_ENST00000518131.1_Missense_Mutation_p.G569E|NEFM_ENST00000521540.1_Intron|NEFM_ENST00000433454.2_Missense_Mutation_p.G193E P07197 NFM_HUMAN neurofilament, medium polypeptide 569 Tail. neurofilament protein binding|structural constituent of cytoskeleton breast(3)|endometrium(7)|kidney(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|urinary_tract(1) 36 Prostate(55;0.157) UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375) caggaagaaggagaaacagaa 0.507000 7 11 0 0 1 0 0 UBIAD1 29914 broad.mit.edu 37 1 11346027 11346027 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:11346027C>T ENST00000376810.5 + 2 1182 c.856C>T c.(856-858)Ccc>Tcc p.P286S UBIAD1_ENST00000376804.2_Intron NM_013319.2 NP_037451.1 Q9Y5Z9 UBIA1_HUMAN UbiA prenyltransferase domain containing 1 286 menaquinone biosynthetic process endoplasmic reticulum membrane|integral to membrane|mitochondrion|nucleus prenyltransferase activity endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(3) 12 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.000818)|all_lung(284;0.00105)|Colorectal(325;0.0062)|Breast(348;0.012)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.52e-06)|COAD - Colon adenocarcinoma(227;0.000254)|BRCA - Breast invasive adenocarcinoma(304;0.000299)|Kidney(185;0.000754)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0487) CCTGGCACTCCCCCTGCTTAC 0.572000 20 282 0 0 1 0 0 CFAP221 200373 broad.mit.edu 37 2 120362466 120362466 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:120362466G>A ENST00000602047.1 + 11 1181 c.69G>A c.(67-69)caG>caA p.Q23Q PCDP1_ENST00000413369.3_Silent_p.Q309Q|PCDP1_ENST00000597189.1_3'UTR Q4G0U5 PCDP1_HUMAN 309 cilium calmodulin binding Colorectal(110;0.196) TTGAGTACCAGAACCTCAGAT 0.413000 51 138 0 0 1 0 0 MUC13 56667 broad.mit.edu 37 3 124627180 124627180 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:124627180C>T ENST00000311075.3 - 11 1388 c.1350G>A c.(1348-1350)acG>acA p.T450T NM_033049.3 NP_149038.3 Q9H3R2 MUC13_HUMAN mucin 13, cell surface associated 450 extracellular region|integral to membrane|plasma membrane p.T450T(1) breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(1)|stomach(1) 18 CAATATGCTTCGTTTTGTTAT 0.343000 22 39 0 0 1 0 0 PLEC 5339 broad.mit.edu 37 8 145004593 145004593 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:145004593G>A ENST00000322810.4 - 20 2996 c.2827C>T c.(2827-2829)Cgc>Tgc p.R943C PLEC_ENST00000356346.3_Missense_Mutation_p.R792C|PLEC_ENST00000354589.3_Missense_Mutation_p.R806C|PLEC_ENST00000398774.2_Missense_Mutation_p.R774C|PLEC_ENST00000527096.1_Missense_Mutation_p.R829C|PLEC_ENST00000436759.2_Missense_Mutation_p.R833C|PLEC_ENST00000354958.2_Missense_Mutation_p.R784C|PLEC_ENST00000345136.3_Missense_Mutation_p.R806C|PLEC_ENST00000357649.2_Missense_Mutation_p.R810C NM_201380.2 NP_958782.1 Q15149 PLEC_HUMAN plectin 943 Globular 1. cellular component disassembly involved in apoptosis|hemidesmosome assembly cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma actin binding|structural constituent of muscle NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10) 137 AGGGGCAGGCGGCCCCGCATG 0.711000 9 8 0 0 1 0 0 FCGR3B 2215 broad.mit.edu 37 1 161600936 161600936 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:161600936G>A ENST00000531221.1 - 1 60 c.57C>T c.(55-57)gtC>gtT p.V19V FCGR2B_ENST00000428605.2_Intron|FCGR2B_ENST00000403078.3_Intron|FCGR2B_ENST00000367960.5_Intron|FCGR3B_ENST00000294800.3_5'UTR|FCGR2B_ENST00000367962.4_Intron|FCGR3B_ENST00000367964.2_Intron O75015 FCG3B_HUMAN Fc fragment of IgG, low affinity IIIb, receptor (CD16b) 0 immune response anchored to membrane|extracellular region|plasma membrane IgG binding|receptor activity central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(9)|prostate(1)|urinary_tract(1) 18 all_cancers(52;4.89e-16)|all_hematologic(112;0.0207) BRCA - Breast invasive adenocarcinoma(70;0.00376) Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072) GCCCTAAAGGGACCAAGCCGA 0.517000 15 49 0 0 1 0 0 RNASE1 6035 broad.mit.edu 37 14 21270136 21270136 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr14:21270136G>A ENST00000397967.4 - 2 598 c.92C>T c.(91-93)tCc>tTc p.S31F RNASE1_ENST00000555698.1_5'UTR|RNASE1_ENST00000412779.2_Missense_Mutation_p.S31F|RNASE1_ENST00000397970.4_Missense_Mutation_p.S31F|RNASE1_ENST00000340900.3_Missense_Mutation_p.S31F NM_002933.4 NP_002924.1 P07998 RNAS1_HUMAN ribonuclease, RNase A family, 1 (pancreatic) 31 extracellular region nucleic acid binding|pancreatic ribonuclease activity|protein binding central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)|upper_aerodigestive_tract(1) 5 all_cancers(95;0.00671) all_lung(585;0.235) Epithelial(56;9.21e-07)|all cancers(55;2.9e-06) GBM - Glioblastoma multiforme(265;0.0126) CTTGGCCCGGGATTCCTTGCC 0.577000 44 51 0 0 1 0 0 OSGEP 55644 broad.mit.edu 37 14 20917416 20917416 + Missense_Mutation SNP A A G TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr14:20917416A>G ENST00000206542.4 - 4 842 c.421T>C c.(421-423)Tac>Cac p.Y141H OSGEP_ENST00000555656.1_5'UTR|OSGEP_ENST00000554249.1_5'UTR NM_017807.3 NP_060277.1 Q9NPF4 OSGEP_HUMAN O-sialoglycoprotein endopeptidase 141 proteolysis|tRNA processing metal ion binding|metalloendopeptidase activity|protein binding endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(4)|stomach(1) 11 all_cancers(95;0.00123) all_lung(585;0.235) Epithelial(56;1.09e-07)|all cancers(55;1.19e-06) GBM - Glioblastoma multiforme(265;0.0231)|READ - Rectum adenocarcinoma(17;0.196) TGTTCCGAGTATGCAATCACC 0.458000 25 48 0 0 1 0 0 IPO9 55705 broad.mit.edu 37 1 201823803 201823803 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:201823803C>T ENST00000361565.4 + 7 840 c.771C>T c.(769-771)ggC>ggT p.G257G NM_018085.4 NP_060555.2 Q96P70 IPO9_HUMAN importin 9 257 protein import into nucleus cytoplasm|nucleus histone binding|protein transporter activity cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 38 TACCAGATGGCCCCACATCTG 0.458000 93 147 0 0 1 0 0 NOC4L 79050 broad.mit.edu 37 12 132636103 132636103 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:132636103C>T ENST00000330579.1 + 12 1189 c.1148C>T c.(1147-1149)gCc>gTc p.A383V NOC4L_ENST00000535343.1_3'UTR|NOC4L_ENST00000538784.1_5'UTR NM_024078.1 NP_076983.1 Q9BVI4 NOC4L_HUMAN nucleolar complex associated 4 homolog (S. cerevisiae) 383 rRNA processing integral to membrane|nuclear membrane|nucleolus protein binding endometrium(2)|kidney(2)|large_intestine(1)|lung(7)|skin(2) 14 all_neural(191;0.0982)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;7.2e-08)|Epithelial(86;3.34e-07)|all cancers(50;1.97e-05) CCCCCTGAGGCCCTGCTCATG 0.706000 13 21 0 0 1 0 0 SLC4A1 6521 broad.mit.edu 37 17 42327840 42327840 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:42327840C>T ENST00000262418.6 - 20 2877 c.2722G>A c.(2722-2724)Gcc>Acc p.A908T NM_000342.3 NP_000333.1 P02730 B3AT_HUMAN solute carrier family 4 (anion exchanger), member 1 908 Membrane (anion exchange). bicarbonate transport|cellular ion homeostasis basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane|Z disc ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1) 40 Breast(137;0.014)|Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.115) ACAGGCATGGCCACTTCGTCG 0.592000 28 70 0 0 1 0 0 KRT80 144501 broad.mit.edu 37 12 52585420 52585420 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:52585420G>A ENST00000313234.5 - 1 364 c.267C>T c.(265-267)gcC>gcT p.A89A KRT80_ENST00000394815.2_Silent_p.A89A NM_001081492.1 NP_001074961.1 Q6KB66 K2C80_HUMAN keratin 80 89 Coil 1A.|Rod. keratin filament structural molecule activity endometrium(2)|large_intestine(2)|lung(1) 5 BRCA - Breast invasive adenocarcinoma(357;0.108) TATCATTGAGGGCCTTCATCT 0.577000 37 127 0 0 1 0 0 RNF149 284996 broad.mit.edu 37 2 101911460 101911460 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:101911460G>A ENST00000295317.3 - 2 751 c.644C>T c.(643-645)tCg>tTg p.S215L NM_173647.3 NP_775918.2 Q8NC42 RN149_HUMAN ring finger protein 149 215 integral to membrane ligase activity|zinc ion binding breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1) 12 CCAGGCTAACGAGATAATCAT 0.433000 13 101 0 0 1 0 0 LRRC49 54839 broad.mit.edu 37 15 71272495 71272495 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr15:71272495G>A ENST00000260382.5 + 10 1237 c.977G>A c.(976-978)cGg>cAg p.R326Q LRRC49_ENST00000544974.2_Missense_Mutation_p.R316Q|LRRC49_ENST00000436542.2_3'UTR|LRRC49_ENST00000560158.2_Missense_Mutation_p.R14Q|LRRC49_ENST00000560691.1_Missense_Mutation_p.R32Q|LRRC49_ENST00000443425.2_Missense_Mutation_p.R282Q|LRRC49_ENST00000560369.1_Missense_Mutation_p.R331Q NM_001199017.1|NM_017691.3 NP_001185946.1|NP_060161.2 Q8IUZ0 LRC49_HUMAN leucine rich repeat containing 49 326 cytoplasm|microtubule breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(3)|skin(3) 34 GAGAAGAAGCGGGAAAGTCAT 0.388000 42 48 0 0 1 0 0 GPR64 10149 broad.mit.edu 37 X 19027768 19027768 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chrX:19027768C>T ENST00000354791.3 - 17 1591 c.1350G>A c.(1348-1350)gtG>gtA p.V450V GPR64_ENST00000357991.3_Silent_p.V463V|GPR64_ENST00000340581.3_Silent_p.V436V|GPR64_ENST00000379869.3_Silent_p.V466V|GPR64_ENST00000379873.2_Silent_p.V466V|GPR64_ENST00000379876.1_Silent_p.V442V|GPR64_ENST00000379878.3_Silent_p.V450V|GPR64_ENST00000356606.4_Silent_p.V452V|GPR64_ENST00000360279.4_Silent_p.V444V|GPR64_ENST00000357544.3_Silent_p.V436V Q8IZP9 GPR64_HUMAN G protein-coupled receptor 64 466 neuropeptide signaling pathway|spermatogenesis cytoplasm|integral to plasma membrane G-protein coupled receptor activity breast(5)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(18)|stomach(1)|urinary_tract(1) 42 Hepatocellular(33;0.183) GGTCTTGGGCCACAAAGGTAG 0.418000 36 118 0 0 1 0 0 IGLV8-61 28774 broad.mit.edu 37 22 22453557 22453557 + RNA SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr22:22453557C>T ENST00000390283.2 + 0 349 CCCTCACCATCACGGGGGCCC 0.507000 29 81 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9049163 9049163 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:9049163G>A ENST00000397910.4 - 5 32671 c.32468C>T c.(32467-32469)tCa>tTa p.S10823L NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 10825 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 CGTGACCAATGAAACTGTTGT 0.483000 81 155 0 0 1 0 0 UNC13C 440279 broad.mit.edu 37 15 54306172 54306172 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr15:54306172G>A ENST00000545554.1 + 1 1072 c.1072G>A c.(1072-1074)Gaa>Aaa p.E358K UNC13C_ENST00000260323.11_Missense_Mutation_p.E358K|UNC13C_ENST00000537900.1_Missense_Mutation_p.E358K Q8NB66 UN13C_HUMAN unc-13 homolog C (C. elegans) 358 exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4) 121 GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124) TATTAAAATTGAATTTGCTCA 0.383000 24 34 0 0 1 0 0 TAS2R60 338398 broad.mit.edu 37 7 143140722 143140722 + Missense_Mutation SNP G G C TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:143140722G>C ENST00000332690.1 + 1 177 c.177G>C c.(175-177)ttG>ttC p.L59F EPHA1-AS1_ENST00000429289.1_RNA NM_177437.1 NP_803186.1 P59551 T2R60_HUMAN taste receptor, type 2, member 60 59 sensory perception of bitter taste integral to membrane G-protein coupled receptor activity breast(1)|kidney(1)|large_intestine(2)|lung(17)|prostate(1)|skin(7)|urinary_tract(2) 31 Melanoma(164;0.172) ATAAGTTATTGGTTAGCCTAG 0.498000 98 161 0 0 1 0 0 TSPAN15 23555 broad.mit.edu 37 10 71243603 71243603 + Missense_Mutation SNP C C T rs142948874 TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:71243603C>T ENST00000373290.2 + 2 375 c.253C>T c.(253-255)Ctc>Ttc p.L85F NM_012339.3 NP_036471.1 O95858 TSN15_HUMAN tetraspanin 15 85 integral to plasma membrane|membrane fraction breast(1)|endometrium(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1) 9 GCTGGCGTCCCTCCGTGACAA 0.597000 6 104 0 0 1 0 0 LIFR 3977 broad.mit.edu 37 5 38506693 38506693 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:38506693C>T ENST00000263409.4 - 8 1195 c.1033G>A c.(1033-1035)Gat>Aat p.D345N LIFR_ENST00000453190.2_Missense_Mutation_p.D345N|LIFR_ENST00000503088.1_5'UTR NM_002310.5 NP_002301.1 P42702 LIFR_HUMAN leukemia inhibitory factor receptor alpha 345 Fibronectin type-III 2. positive regulation of cell proliferation extracellular region|integral to plasma membrane ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2) 78 all_lung(31;0.00021) TCTTTTAAATCATGTGTCTCA 0.363000 T PLAG1 salivary adenoma 56 34 0 0 1 0 0 HADH 3033 broad.mit.edu 37 4 108948874 108948874 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:108948874C>T ENST00000505878.1 + 7 952 c.679C>T c.(679-681)Ctg>Ttg p.L227L HADH_ENST00000454409.2_Silent_p.L227L|HADH_ENST00000403312.1_Silent_p.L282L|HADH_ENST00000309522.3_Silent_p.L223L|HADH_ENST00000603302.1_Silent_p.L223L|HADH_ENST00000510728.1_3'UTR Q16836 HCDH_HUMAN hydroxyacyl-CoA dehydrogenase 223 fatty acid beta-oxidation mitochondrial matrix 3-hydroxyacyl-CoA dehydrogenase activity|NAD+ binding endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(2)|upper_aerodigestive_tract(3) 15 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.000168) NADH(DB00157) GAACCGCCTCCTGGTTCCATA 0.473000 38 91 0 0 1 0 0 KIRREL2 84063 broad.mit.edu 37 19 36351847 36351847 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:36351847C>T ENST00000360202.5 + 8 1163 c.965C>T c.(964-966)tCc>tTc p.S322F KIRREL2_ENST00000262625.7_Missense_Mutation_p.S322F|KIRREL2_ENST00000347900.6_Missense_Mutation_p.S272F|KIRREL2_ENST00000592409.1_Missense_Mutation_p.S322F|KIRREL2_ENST00000586102.2_Missense_Mutation_p.S302F|NPHS1_ENST00000591817.1_Intron NM_032123.5|NM_199180.2 NP_115499.4|NP_954649.2 Q6UWL6 KIRR2_HUMAN kin of IRRE like 2 (Drosophila) 322 Ig-like C2-type 4. cell adhesion integral to membrane|plasma membrane breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 48 all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) GAGCCCGTGTCCGTGGACGTG 0.677000 22 48 0 0 1 0 0 APOBEC3F 200316 broad.mit.edu 37 22 39445506 39445506 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr22:39445506G>A ENST00000308521.5 + 5 1000 c.643G>A c.(643-645)Gaa>Aaa p.E215K APOBEC3G_ENST00000452957.2_Intron NM_145298.5 NP_660341.2 Q9HC16 ABC3G_HUMAN apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3F 217 base conversion or substitution editing|DNA cytosine deamination|innate immune response|interspecies interaction between organisms|negative regulation of retroviral genome replication|negative regulation of transposition|positive regulation of defense response to virus by host|response to virus|viral reproduction apolipoprotein B mRNA editing enzyme complex|cytosol|mitochondrion cytidine deaminase activity|dCTP deaminase activity|protein homodimerization activity|RNA binding|zinc ion binding breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|skin(2) 16 Melanoma(58;0.04) TGGTCGGAACGAAAGCTGGCT 0.483000 74 133 0 0 1 0 0 TECTA 7007 broad.mit.edu 37 11 120998546 120998546 + Silent SNP G G C TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:120998546G>C ENST00000392793.1 + 9 2131 c.1860G>C c.(1858-1860)tcG>tcC p.S620S TECTA_ENST00000264037.2_Silent_p.S620S O75443 TECTA_HUMAN tectorin alpha 620 TIL 1. cell-matrix adhesion|sensory perception of sound anchored to membrane|plasma membrane|proteinaceous extracellular matrix TECTA/TBCEL(2) NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 135 all_hematologic(175;0.208) Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166) TGACGGCCTCGCGGAACTGCG 0.657000 56 42 0 0 1 0 0 ADAMTS9 56999 broad.mit.edu 37 3 64601090 64601090 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:64601090C>T ENST00000498707.1 - 21 3438 c.3096G>A c.(3094-3096)ctG>ctA p.L1032L ADAMTS9_ENST00000295903.4_Silent_p.L1004L NM_182920.1 NP_891550.1 Q9P2N4 ATS9_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 9 1032 TSP type-1 4. glycoprotein catabolic process|multicellular organismal development|proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 100 Lung NSC(201;0.00682) BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221) TGCTGTCATCCAGTACATCAT 0.433000 33 73 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9059639 9059639 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:9059639G>A ENST00000397910.4 - 3 28010 c.27807C>T c.(27805-27807)acC>acT p.T9269T NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 9271 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 AGAAGGCAGGGGTTGATGTGA 0.488000 59 103 0 0 1 0 0 TRIM24 8805 broad.mit.edu 37 7 138235807 138235807 + Splice_Site SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:138235807G>A ENST00000343526.4 + 8 1358 c.e8-1 TRIM24_ENST00000415680.2_Splice_Site|TRIM24_ENST00000497516.1_Splice_Site O15164 TIF1A_HUMAN tripartite motif containing 24 cellular response to estrogen stimulus|protein catabolic process|regulation of apoptosis|regulation of protein stability|transcription from RNA polymerase II promoter cytoplasm chromatin binding|estrogen response element binding|histone acetyl-lysine binding|p53 binding|transcription coactivator activity|ubiquitin-protein ligase activity|zinc ion binding breast(2)|central_nervous_system(5)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3) 40 TTTTCTTCTAGATTACATACC 0.398000 7 168 0 0 1 0 0 ADAMTS18 170692 broad.mit.edu 37 16 77401524 77401524 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr16:77401524G>A ENST00000282849.5 - 4 1010 c.592C>T c.(592-594)Cat>Tat p.H198Y ADAMTS18_ENST00000567121.1_5'UTR NM_199355.2 NP_955387.1 Q8TE60 ATS18_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 18 198 proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 118 ACGTGAGGATGGTGACCCGCA 0.517000 37 41 0 0 1 0 0 CDH8 1006 broad.mit.edu 37 16 62055113 62055113 + Nonsense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr16:62055113C>T ENST00000577390.1 - 2 1149 c.195G>A c.(193-195)tgG>tgA p.W65* CDH8_ENST00000299345.6_Nonsense_Mutation_p.W65*|CDH8_ENST00000584337.1_Nonsense_Mutation_p.W65*|CDH8_ENST00000577730.1_Nonsense_Mutation_p.W65* NM_001796.4 NP_001787.2 P55286 CADH8_HUMAN cadherin 8, type 2 65 Cadherin 1. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4) 112 Ovarian(137;0.0799)|Melanoma(118;0.16) UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249) ACATTTGATTCCAAACCCAGC 0.428000 22 21 0 0 1 0 0 PTGER2 5732 broad.mit.edu 37 14 52794130 52794130 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr14:52794130C>T ENST00000245457.5 + 2 1189 c.1035C>T c.(1033-1035)tcC>tcT p.S345S PTGER2_ENST00000557436.1_Silent_p.S90S NM_000956.3 NP_000947.2 P43116 PE2R2_HUMAN prostaglandin E receptor 2 (subtype EP2), 53kDa 345 integral to plasma membrane prostaglandin E receptor activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 15 Breast(41;0.0639)|all_epithelial(31;0.0729) Alprostadil(DB00770)|Iloprost(DB01088) CACAAACTTCCTGTTCTACAC 0.408000 31 85 0 0 1 0 0 RSPO3 84870 broad.mit.edu 37 6 127471701 127471701 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:127471701G>A ENST00000356698.4 + 3 1009 c.420G>A c.(418-420)atG>atA p.M140I RSPO3_ENST00000368317.3_Missense_Mutation_p.M140I|RSPO3_ENST00000485757.1_3'UTR NM_032784.3 NP_116173.2 Q9BXY4 RSPO3_HUMAN R-spondin 3 140 extracellular region heparin binding PTPRK/RSPO3(10) breast(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(8)|skin(1) 17 GBM - Glioblastoma multiforme(226;0.0555) ACCATACTATGGAGTGTGTCA 0.388000 44 91 0 0 1 0 0 CNTNAP2 26047 broad.mit.edu 37 7 146818174 146818174 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:146818174G>A ENST00000361727.3 + 6 1374 c.858G>A c.(856-858)cgG>cgA p.R286R NM_014141.5 NP_054860.1 Q9UHC6 CNTP2_HUMAN contactin associated protein-like 2 286 Laminin G-like 1. behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex receptor binding NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3) 188 Melanoma(164;0.153) all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794) OV - Ovarian serous cystadenocarcinoma(82;0.0319) GCCAGGGGCGGAGCATTAACC 0.527000 HNSCC(39;0.1) 9 149 0 0 1 0 0 CSMD1 64478 broad.mit.edu 37 8 3245183 3245183 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:3245183G>A ENST00000602557.1 - 19 3173 c.2618C>T c.(2617-2619)tCc>tTc p.S873F CSMD1_ENST00000602723.1_Missense_Mutation_p.S873F|CSMD1_ENST00000537824.1_Missense_Mutation_p.S872F|CSMD1_ENST00000400186.3_Missense_Mutation_p.S873F|CSMD1_ENST00000539096.1_Missense_Mutation_p.S872F|CSMD1_ENST00000542608.1_Missense_Mutation_p.S872F|CSMD1_ENST00000520002.1_Missense_Mutation_p.S873F Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 873 Sushi 5. integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) GTCCAGGCAGGAATCCGACTC 0.537000 7 8 0 0 1 0 0 USP31 57478 broad.mit.edu 37 16 23091449 23091449 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr16:23091449G>A ENST00000219689.7 - 13 1993 c.1994C>T c.(1993-1995)cCc>cTc p.P665L NM_020718.3 NP_065769.3 Q70CQ4 UBP31_HUMAN ubiquitin specific peptidase 31 665 ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|ubiquitin thiolesterase activity breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2) 57 GBM - Glioblastoma multiforme(48;0.0187) GCCAGTCAAGGGGAATTTGAC 0.502000 11 108 0 0 1 0 0 AMPD3 272 broad.mit.edu 37 11 10506582 10506582 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:10506582C>T ENST00000444303.2 + 4 800 c.328C>T c.(328-330)Ccc>Tcc p.P110S AMPD3_ENST00000396554.3_Missense_Mutation_p.P278S NM_001172431.1 NP_001165902.1 Q01432 AMPD3_HUMAN adenosine monophosphate deaminase 3 269 AMP catabolic process|purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage cytosol AMP deaminase activity|metal ion binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(3)|skin(1) 25 all cancers(16;1.14e-08)|Epithelial(150;2.83e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0291) CACCGATGGCCCCACGTAAGC 0.612000 13 13 0 0 1 0 0 KRT80 144501 broad.mit.edu 37 12 52585629 52585629 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:52585629G>A ENST00000313234.5 - 1 155 c.58C>T c.(58-60)Ccg>Tcg p.P20S KRT80_ENST00000394815.2_Missense_Mutation_p.P20S NM_001081492.1 NP_001074961.1 Q6KB66 K2C80_HUMAN keratin 80 20 Head. keratin filament structural molecule activity endometrium(2)|large_intestine(2)|lung(1) 5 BRCA - Breast invasive adenocarcinoma(357;0.108) CTGCCCACCGGGGTCACCTCA 0.731000 5 11 0 0 1 0 0 FAM83C 128876 broad.mit.edu 37 20 33875236 33875236 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr20:33875236G>A ENST00000374408.3 - 4 1442 c.1346C>T c.(1345-1347)tCc>tTc p.S449F NM_178468.5 NP_848563.1 Q9BQN1 FA83C_HUMAN family with sequence similarity 83, member C 449 central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 40 BRCA - Breast invasive adenocarcinoma(18;0.00252) GAGGGGCCGGGAGCGAGGAAG 0.642000 26 51 0 0 1 0 0 SVEP1 79987 broad.mit.edu 37 9 113148336 113148336 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:113148336G>A ENST00000401783.2 - 43 10415 c.10079C>T c.(10078-10080)cCt>cTt p.P3360L SVEP1_ENST00000374469.1_Missense_Mutation_p.P3337L|SVEP1_ENST00000297826.5_Missense_Mutation_p.P1286L NM_153366.3 NP_699197.3 Q4LDE5 SVEP1_HUMAN sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 3360 Sushi 33. cell adhesion cytoplasm|extracellular region|membrane calcium ion binding NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4) 147 AATCACAAAAGGAACAGGGCA 0.408000 47 95 0 0 1 0 0 OR5AU1 390445 broad.mit.edu 37 14 21623911 21623911 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr14:21623911C>T ENST00000304418.3 - 1 311 c.274G>A c.(274-276)Ggg>Agg p.G92R NM_001004731.1 NP_001004731.1 Q8NGC0 O5AU1_HUMAN olfactory receptor, family 5, subfamily AU, member 1 92 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(12)|pancreas(1) 21 all_cancers(95;0.00238) Epithelial(56;6.88e-07)|all cancers(55;6.02e-06) GBM - Glioblastoma multiforme(265;0.0192) ACCAGGTTCCCCAGCAGAGTG 0.572000 20 43 0 0 1 0 0 OR1E1 8387 broad.mit.edu 37 17 3300765 3300765 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:3300765G>A ENST00000322608.2 - 1 939 c.940C>T c.(940-942)Ctc>Ttc p.L314F NM_003553.2 NP_003544.2 P30953 OR1E1_HUMAN olfactory receptor, family 1, subfamily E, member 1 314 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|large_intestine(2)|lung(5) 10 TATCATCAGAGAGAGAAGAAA 0.383000 14 45 0 0 1 0 0 LIN28A 79727 broad.mit.edu 37 1 26751942 26751942 + Missense_Mutation SNP G G A rs141345172 TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:26751942G>A ENST00000326279.6 + 3 491 c.377G>A c.(376-378)gGa>gAa p.G126E LIN28A_ENST00000254231.4_Missense_Mutation_p.G126E NM_024674.4 NP_078950.1 Q9H9Z2 LN28A_HUMAN lin-28 homolog A (C. elegans) 126 miRNA catabolic process|pre-miRNA processing|regulation of transcription, DNA-dependent|RNA 3'-end processing|stem cell maintenance cytoplasmic mRNA processing body|nucleolus|stress granule DNA binding|zinc ion binding central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2) 8 CGGCCAAAAGGAAAGAGCATG 0.512000 65 139 0 0 1 0 0 OR52N4 390072 broad.mit.edu 37 11 5776063 5776063 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:5776063C>T ENST00000317254.3 + 1 141 c.93C>T c.(91-93)ttC>ttT p.F31F TRIM5_ENST00000380027.1_Intron NM_001005175.2 NP_001005175.3 Q8NGI2 O52N4_HUMAN olfactory receptor, family 52, subfamily N, member 4 (gene/pseudogene) 31 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 26 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;1.87e-10)|LUSC - Lung squamous cell carcinoma(625;0.114)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.197) GGATTTCCTTCCCATTCTGCT 0.433000 27 26 0 0 1 0 0 TRAJ22 28733 broad.mit.edu 37 14 22991034 22991034 + RNA SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr14:22991034G>A ENST00000390515.1 + 0 19 GGTTCTGCAAGGCAACTGACC 0.408000 108 254 0 0 1 0 0 RBP3 5949 broad.mit.edu 37 10 48388921 48388921 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:48388921G>A ENST00000224600.4 - 1 2070 c.1957C>T c.(1957-1959)Cgg>Tgg p.R653W NM_002900.2 NP_002891.1 P10745 RET3_HUMAN retinol binding protein 3, interstitial 653 4 X approximate tandem repeats. lipid metabolic process|proteolysis|transport|visual perception interphotoreceptor matrix retinal binding|serine-type peptidase activity central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 59 Vitamin A(DB00162) ACCTCTGGCCGAGCATAGTGG 0.672000 13 40 0 0 1 0 0 LINC00854 100874261 broad.mit.edu 37 17 41382109 41382109 + RNA SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:41382109G>A ENST00000433702.2 - 0 14 NR_047479.1 catcggcagaggtgatagctg 0.577000 4 68 0 0 1 0 0 HLA-G 3135 broad.mit.edu 37 6 29797599 29797599 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:29797599C>T ENST00000428701.1 + 6 1080 c.902C>T c.(901-903)tCt>tTt p.S301F HLA-G_ENST00000376815.3_Missense_Mutation_p.S117F|HLA-G_ENST00000360323.6_Missense_Mutation_p.S301F|HLA-G_ENST00000376828.2_Missense_Mutation_p.S306F|HLA-G_ENST00000376818.3_Missense_Mutation_p.S209F NM_002127.5 NP_002118.1 P17693 HLAG_HUMAN major histocompatibility complex, class I, G 301 Connecting peptide. antigen processing and presentation of peptide antigen via MHC class I|cellular defense response|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway integral to membrane|MHC class I protein complex MHC class I receptor activity p.S301Y(1) central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(4)|ovary(3)|pancreas(1)|prostate(5)|skin(1) 21 CCAGAGCAGTCTTCCCTGCCC 0.582000 5 150 0 0 1 0 0 FEZF1 389549 broad.mit.edu 37 7 121944227 121944227 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:121944227C>T ENST00000442488.2 - 1 332 c.265G>A c.(265-267)Gga>Aga p.G89R FEZF1_ENST00000427185.2_Missense_Mutation_p.G89R|FEZF1-AS1_ENST00000428449.1_RNA|FEZF1_ENST00000331178.4_Missense_Mutation_p.G89R NM_001024613.2|NM_001160264.1 NP_001019784.2|NP_001153736.1 A0PJY2 FEZF1_HUMAN FEZ family zinc finger 1 89 cell differentiation|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|large_intestine(3)|lung(18)|ovary(2)|prostate(1) 25 CCCGTCACTCCTGCCTTGGGG 0.677000 21 55 0 0 1 0 0 ARSF 416 broad.mit.edu 37 X 3002489 3002489 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chrX:3002489C>T ENST00000381127.1 + 6 833 c.612C>T c.(610-612)acC>acT p.T204T ARSF_ENST00000359361.2_Silent_p.T204T|ARSF_ENST00000537104.1_Silent_p.T204T NM_001201538.1|NM_001201539.1 NP_001188467.1|NP_001188468.1 P54793 ARSF_HUMAN arylsulfatase F 204 extracellular region arylsulfatase activity|metal ion binding NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2) 38 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) TCACCCTAACCTTTGGGAAGC 0.537000 44 86 0 0 1 0 0 SOHLH2 54937 broad.mit.edu 37 13 36744886 36744886 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr13:36744886G>A ENST00000379881.3 - 10 1127 c.1039C>T c.(1039-1041)Cca>Tca p.P347S SOHLH2_ENST00000554962.1_Missense_Mutation_p.P424S|CCDC169-SOHLH2_ENST00000511166.1_Missense_Mutation_p.P424S NM_017826.2 NP_060296.2 spermatogenesis and oogenesis specific basic helix-loop-helix 2 autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184) KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169) all cancers(112;4.63e-08)|Epithelial(112;2.67e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00272)|BRCA - Breast invasive adenocarcinoma(63;0.00685)|GBM - Glioblastoma multiforme(144;0.0273) GTTTTATATGGATCACCAATA 0.408000 41 81 0 0 1 0 0 ME3 10873 broad.mit.edu 37 11 86270829 86270829 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:86270829C>T ENST00000543262.1 - 3 546 c.220G>A c.(220-222)Gga>Aga p.G74R RP11-317J19.1_ENST00000524610.1_RNA|ME3_ENST00000323418.6_Missense_Mutation_p.G12R|ME3_ENST00000359636.2_Missense_Mutation_p.G74R|ME3_ENST00000393324.3_Missense_Mutation_p.G74R NM_001161586.1 NP_001155058.1 Q16798 MAON_HUMAN malic enzyme 3, NADP(+)-dependent, mitochondrial 74 aerobic respiration|malate metabolic process|oxygen metabolic process|pyruvate metabolic process mitochondrial matrix malate dehydrogenase (oxaloacetate-decarboxylating) (NADP+) activity|metal ion binding|NAD binding endometrium(4)|kidney(1)|large_intestine(7)|lung(7)|ovary(2)|skin(3)|stomach(2)|urinary_tract(1) 27 Acute lymphoblastic leukemia(157;4.34e-06)|all_hematologic(158;0.00252) NADH(DB00157) CCGTGGATTCCAAGCTGCAGC 0.522000 52 97 0 0 1 0 0 AGPAT4 56895 broad.mit.edu 37 6 161557663 161557663 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:161557663G>A ENST00000320285.4 - 9 1258 c.1046C>T c.(1045-1047)tCc>tTc p.S349F AGPAT4_ENST00000366911.5_3'UTR|AGPAT4_ENST00000457520.2_Missense_Mutation_p.S187F NM_020133.2 NP_064518.1 Q9NRZ5 PLCD_HUMAN 1-acylglycerol-3-phosphate O-acyltransferase 4 349 phospholipid biosynthetic process integral to membrane 1-acylglycerol-3-phosphate O-acyltransferase activity|protein binding endometrium(1)|large_intestine(10)|lung(10)|ovary(2)|skin(2) 25 Breast(66;0.000289)|Ovarian(120;0.0266)|Prostate(117;0.0285) OV - Ovarian serous cystadenocarcinoma(65;2.23e-17)|BRCA - Breast invasive adenocarcinoma(81;3.58e-05) AACTCCCACGGAGGCTGCAGA 0.542000 23 47 0 0 1 0 0 EIF4G1 1981 broad.mit.edu 37 3 184040494 184040494 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:184040494G>A ENST00000342981.4 + 11 2185 c.1771G>A c.(1771-1773)Gaa>Aaa p.E591K EIF4G1_ENST00000352767.3_Missense_Mutation_p.E598K|EIF4G1_ENST00000350481.5_Missense_Mutation_p.E427K|EIF4G1_ENST00000427845.1_Missense_Mutation_p.E504K|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000392537.2_Missense_Mutation_p.E504K|EIF4G1_ENST00000434061.2_Missense_Mutation_p.E395K|EIF4G1_ENST00000435046.2_Missense_Mutation_p.E395K|EIF4G1_ENST00000441154.1_Missense_Mutation_p.E427K|EIF4G1_ENST00000346169.2_Missense_Mutation_p.E591K|EIF4G1_ENST00000414031.1_Missense_Mutation_p.E551K|EIF4G1_ENST00000411531.1_Missense_Mutation_p.E551K|EIF4G1_ENST00000319274.6_Missense_Mutation_p.E591K|EIF4G1_ENST00000382330.3_Missense_Mutation_p.E598K|EIF4G1_ENST00000424196.1_Missense_Mutation_p.E598K NM_182917.4 NP_886553.3 Q04637 IF4G1_HUMAN eukaryotic translation initiation factor 4 gamma, 1 591 MIF4G. insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation cytosol|eukaryotic translation initiation factor 4F complex protein binding|translation initiation factor activity central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 75 all_cancers(143;1.06e-10)|Ovarian(172;0.0339) Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) CCAGCCCGGGGAACAGAAGTA 0.483000 7 82 0 0 1 0 0 FERD3L 222894 broad.mit.edu 37 7 19184869 19184869 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:19184869C>T ENST00000275461.3 - 1 175 c.117G>A c.(115-117)ttG>ttA p.L39L AC003986.5_ENST00000452700.1_RNA NM_152898.2 NP_690862.1 Q96RJ6 FER3L_HUMAN Fer3-like bHLH transcription factor 39 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding breast(1)|endometrium(4)|large_intestine(8)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2) 35 CTGGGTCCCCCAAGGAGACCC 0.662000 24 58 0 0 1 0 0 PTPN4 5775 broad.mit.edu 37 2 120703950 120703950 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:120703950C>T ENST00000263708.2 + 17 2320 c.1549C>T c.(1549-1551)Cta>Tta p.L517L PTPN4_ENST00000544261.1_Silent_p.L150L NM_002830.3 NP_002821.1 P29074 PTN4_HUMAN protein tyrosine phosphatase, non-receptor type 4 (megakaryocyte) 517 PDZ. cytoplasm|cytoskeleton|internal side of plasma membrane cytoskeletal protein binding|non-membrane spanning protein tyrosine phosphatase activity endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|urinary_tract(1) 30 Alendronate(DB00630) TAATCTTGTCCTAATCAGAAT 0.274000 56 121 0 0 1 0 0 CYP4X1 260293 broad.mit.edu 37 1 47497149 47497149 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:47497149C>T ENST00000371901.3 + 3 611 c.361C>T c.(361-363)Ctt>Ttt p.L121F CYP4X1_ENST00000538609.1_Missense_Mutation_p.L120F NM_178033.1 NP_828847.1 Q8N118 CP4X1_HUMAN cytochrome P450, family 4, subfamily X, polypeptide 1 121 endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(1) 17 ACCTCCACTTCTTGGTATGTA 0.418000 88 175 0 0 1 0 0 DCC 1630 broad.mit.edu 37 18 50929202 50929202 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr18:50929202G>A ENST00000442544.2 + 19 3490 c.2874G>A c.(2872-2874)ggG>ggA p.G958G DCC_ENST00000581580.1_Silent_p.G593G|DCC_ENST00000412726.1_Silent_p.G786G NM_005215.3 NP_005206.2 P43146 DCC_HUMAN deleted in colorectal carcinoma 958 Fibronectin type-III 6. apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development cytosol|integral to membrane NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6) 148 all_cancers(7;0.11)|all_epithelial(6;0.00126) Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942) CTAGGGAAGGGAAGCCTCGTG 0.502000 78 161 0 0 1 0 0 LPP 4026 broad.mit.edu 37 3 188326973 188326973 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:188326973C>T ENST00000312675.4 + 6 700 c.454C>T c.(454-456)Cct>Tct p.P152S LPP_ENST00000471917.1_3'UTR|LPP_ENST00000448637.1_Missense_Mutation_p.P152S|LPP_ENST00000543006.1_Missense_Mutation_p.P152S NM_001167672.1|NM_005578.3 NP_001161144.1|NP_005569.1 Q93052 LPP_HUMAN LIM domain containing preferred translocation partner in lipoma 152 Pro-rich. cell adhesion cytoplasm|focal adhesion|nucleus protein binding|zinc ion binding HMGA2/LPP(161) NS(1)|breast(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(2) 10 all_cancers(143;1.37e-09)|all_hematologic(3;0.0429)|Ovarian(172;0.088) all_lung(153;0.00139)|Lung NSC(153;0.00202) GBM - Glioblastoma multiforme(93;0.00602) AACAGCCTCTCCTCCAGTTTC 0.418000 T """HMGA2, MLL, C12orf9""" """lipoma, leukemia""" 7 243 0 0 1 0 0 MEGF8 1954 broad.mit.edu 37 19 42862945 42862945 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:42862945C>T ENST00000334370.4 + 29 5616 c.4981C>T c.(4981-4983)Cgt>Tgt p.R1661C MEGF8_ENST00000251268.6_Missense_Mutation_p.R1728C NM_001410.2 NP_001401.2 Q7Z7M0 MEGF8_HUMAN multiple EGF-like-domains 8 1728 integral to membrane calcium ion binding|structural molecule activity breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 50 Prostate(69;0.00682) CTAGCGAGATCGTATGAGGAA 0.607000 9 18 0 0 1 0 0 YTHDF3 253943 broad.mit.edu 37 8 64098966 64098966 + Missense_Mutation SNP T T A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:64098966T>A ENST00000539294.1 + 4 710 c.394T>A c.(394-396)Ttc>Atc p.F132I YTHDF3_ENST00000517371.1_Intron|YTHDF3_ENST00000542911.2_5'UTR|YTHDF3_ENST00000521674.1_3'UTR NM_001277817.1|NM_001277818.1|NM_152758.4 NP_001264746.1|NP_001264747.1|NP_689971.4 Q7Z739 YTHD3_HUMAN YTH domain family, member 3 133 Breast(64;0.0716) all_cancers(86;0.169)|Lung NSC(129;0.0324)|all_lung(136;0.0593)|all_epithelial(80;0.146) BRCA - Breast invasive adenocarcinoma(89;0.161) TAATGCTGATTTCTCTACATG 0.418000 27 56 0 0 1 0 0 ADAM33 80332 broad.mit.edu 37 20 3655425 3655425 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr20:3655425C>T ENST00000356518.2 - 5 646 c.405G>A c.(403-405)ggG>ggA p.G135G ADAM33_ENST00000379861.4_Silent_p.G135G|ADAM33_ENST00000350009.2_Silent_p.G135G NM_025220.2 NP_079496.1 Q9BZ11 ADA33_HUMAN ADAM metallopeptidase domain 33 135 proteolysis integral to membrane metalloendopeptidase activity|zinc ion binding haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|skin(3) 29 CTCACCTCATCCCAGAGCAGG 0.627000 28 55 0 0 1 0 0 SELM 140606 broad.mit.edu 37 22 31501919 31501919 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr22:31501919C>T ENST00000402395.1 - 4 579 c.162G>A c.(160-162)aaG>aaA p.K54K RP3-412A9.11_ENST00000465536.1_5'UTR|RP3-412A9.11_ENST00000400299.2_Silent_p.K54K AACTCACCTCCTTTAGGCGGT 0.577000 58 134 0 0 1 0 0 ATF7IP2 80063 broad.mit.edu 37 16 10524750 10524750 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr16:10524750C>T ENST00000396560.2 + 3 500 c.273C>T c.(271-273)ttC>ttT p.F91F ATF7IP2_ENST00000543967.1_Intron|ATF7IP2_ENST00000396559.1_Silent_p.F91F|ATF7IP2_ENST00000356427.2_Silent_p.F91F|ATF7IP2_ENST00000324570.5_Silent_p.F91F NM_024997.3 NP_079273.2 Q5U623 MCAF2_HUMAN activating transcription factor 7 interacting protein 2 91 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus p.F91L(1) large_intestine(3) 3 GTAAAGTATTCTCTCAGAATT 0.333000 21 48 0 0 1 0 0 DNAH9 1770 broad.mit.edu 37 17 11584043 11584043 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:11584043C>T ENST00000262442.3 + 19 3648 c.3580C>T c.(3580-3582)Ctg>Ttg p.L1194L DNAH9_ENST00000454412.2_Silent_p.L1194L NM_001372.3 NP_001363.2 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 1194 Stem (By similarity). cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4) 290 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) TTTGCAGGAGCTGCCTGAGAA 0.527000 14 28 0 0 1 0 0 CYFIP2 26999 broad.mit.edu 37 5 156768086 156768086 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:156768086G>A ENST00000347377.6 + 23 3025 c.2594G>A c.(2593-2595)cGg>cAg p.R865Q CYFIP2_ENST00000435847.2_Missense_Mutation_p.R564Q|CYFIP2_ENST00000442283.2_Missense_Mutation_p.R150Q|CYFIP2_ENST00000522463.1_Missense_Mutation_p.R669Q|CYFIP2_ENST00000377576.3_Missense_Mutation_p.R865Q|CYFIP2_ENST00000318218.6_Missense_Mutation_p.R890Q|CYFIP2_ENST00000521420.1_Missense_Mutation_p.R839Q|CYFIP2_ENST00000541131.1_Missense_Mutation_p.R790Q NM_001037332.2 NP_001032409.2 Q96F07 CYFP2_HUMAN cytoplasmic FMR1 interacting protein 2 890 apoptosis|cell-cell adhesion cell junction|perinuclear region of cytoplasm|synapse|synaptosome protein binding breast(1)|endometrium(12)|kidney(2)|lung(23) 38 Renal(175;0.00212) Medulloblastoma(196;0.0306)|all_neural(177;0.0897) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) AGTTTTGTGCGGACTGCCATT 0.478000 35 53 0 0 1 0 0 WNT5A 7474 broad.mit.edu 37 3 55513501 55513501 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:55513501C>T ENST00000474267.1 - 4 753 c.232G>A c.(232-234)Gga>Aga p.G78R WNT5A_ENST00000497027.1_Missense_Mutation_p.G63R|WNT5A_ENST00000264634.4_Missense_Mutation_p.G78R P41221 WNT5A_HUMAN wingless-type MMTV integration site family, member 5A 78 activation of JUN kinase activity|activation of protein kinase B activity|axon guidance|cartilage development|cellular protein localization|cellular response to calcium ion|cellular response to interferon-gamma|cellular response to lipopolysaccharide|cellular response to retinoic acid|cellular response to transforming growth factor beta stimulus|cervix development|cochlea morphogenesis|convergent extension involved in organogenesis|dopaminergic neuron differentiation|dorsal/ventral axis specification|embryonic digit morphogenesis|embryonic skeletal system development|epithelial cell proliferation involved in mammary gland duct elongation|epithelial to mesenchymal transition|face development|genitalia development|heart looping|hemopoietic stem cell proliferation|keratinocyte differentiation|lateral sprouting involved in mammary gland duct morphogenesis|lens development in camera-type eye|male gonad development|mammary gland branching involved in thelarche|negative regulation of apoptosis|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of mesenchymal cell proliferation|negative regulation of transcription, DNA-dependent|neural tube closure|olfactory bulb interneuron development|optic cup formation involved in camera-type eye development|palate development|positive regulation of angiogenesis|positive regulation of cartilage development|positive regulation of cGMP metabolic process|positive regulation of chemokine biosynthetic process|positive regulation of cytokine secretion involved in immune response|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of fibroblast proliferation|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of macrophage activation|positive regulation of macrophage cytokine production|positive regulation of mesenchymal cell proliferation|positive regulation of neuron projection development|positive regulation of NF-kappaB transcription factor activity|positive regulation of ossification|positive regulation of protein catabolic process|positive regulation of protein kinase C signaling cascade|positive regulation of T cell chemotaxis|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|primitive streak formation|regulation of branching involved in mammary gland duct morphogenesis|somitogenesis|tail morphogenesis|type B pancreatic cell development|urinary bladder development|uterus development|vagina development|Wnt receptor signaling pathway, calcium modulating pathway|wound healing extracellular space|membrane fraction|plasma membrane|proteinaceous extracellular matrix frizzled binding|frizzled-2 binding|receptor tyrosine kinase-like orphan receptor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding breast(2)|endometrium(1)|large_intestine(4)|lung(3)|prostate(2)|urinary_tract(1) 13 KIRC - Kidney renal clear cell carcinoma(284;0.00377)|Kidney(284;0.00408)|OV - Ovarian serous cystadenocarcinoma(275;0.204) TTCTTCTGTCCTTGAGAAAGT 0.483000 75 138 0 0 1 0 0 KIAA0226 9711 broad.mit.edu 37 3 197410230 197410230 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:197410230G>A ENST00000273582.5 - 14 2338 c.1793C>T c.(1792-1794)cCa>cTa p.P598L KIAA0226_ENST00000296343.5_Missense_Mutation_p.P643L|KIAA0226_ENST00000389665.5_Missense_Mutation_p.P668L NM_001145642.2 NP_001139114.1 Q92622 RUBIC_HUMAN KIAA0226 643 Ser-rich. autophagy|endocytosis|negative regulation of autophagy|negative regulation of endocytosis early endosome|late endosome|lysosome protein binding NS(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976) Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(93;0.0446) CGAGGCGGCTGGAAGCTGCAT 0.612000 35 78 0 0 1 0 0 HEATR1 55127 broad.mit.edu 37 1 236744653 236744653 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:236744653G>A ENST00000366582.3 - 20 2738 c.2624C>T c.(2623-2625)tCt>tTt p.S875F HEATR1_ENST00000366581.2_Missense_Mutation_p.S875F NM_018072.5 NP_060542.4 Q9H583 HEAT1_HUMAN HEAT repeat containing 1 875 rRNA processing nucleolus|ribonucleoprotein complex protein binding NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3) 87 Ovarian(103;0.0634)|Breast(184;0.133) all_cancers(173;0.0255)|Prostate(94;0.175) OV - Ovarian serous cystadenocarcinoma(106;0.00117) TGAAAGGCTAGAACCATAGGT 0.358000 8 268 0 0 1 0 0 IGHV1-3 28473 broad.mit.edu 37 14 106471456 106471456 + RNA SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr14:106471456G>A ENST00000390595.2 - 0 182 AGCTAGTGAAGGTGTATCCAG 0.552000 12 202 0 0 1 0 0 TPO 7173 broad.mit.edu 37 2 1497627 1497627 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:1497627G>A ENST00000345913.4 + 11 1913 c.1822G>A c.(1822-1824)Gac>Aac p.D608N TPO_ENST00000497517.2_3'UTR|TPO_ENST00000382201.3_Missense_Mutation_p.D551N|TPO_ENST00000382198.1_Missense_Mutation_p.D435N|TPO_ENST00000346956.3_Missense_Mutation_p.D608N|TPO_ENST00000329066.4_Missense_Mutation_p.D608N|TPO_ENST00000337415.3_Missense_Mutation_p.D608N|TPO_ENST00000349624.3_Missense_Mutation_p.D435N NM_000547.5 NP_000538.3 P07202 PERT_HUMAN thyroid peroxidase 608 cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process cell surface|cytoplasm|integral to plasma membrane calcium ion binding|heme binding|iodide peroxidase activity breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627) all_cancers(51;0.0338) all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12) Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550) GACCCCCGCTGACCTGAGCAC 0.582000 12 27 0 0 1 0 0 TRANK1 9881 broad.mit.edu 37 3 36899415 36899415 + Nonsense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:36899415G>A ENST00000429976.2 - 12 1913 c.1666C>T c.(1666-1668)Cag>Tag p.Q556* TRANK1_ENST00000428977.2_Nonsense_Mutation_p.Q6*|TRANK1_ENST00000301807.6_Nonsense_Mutation_p.Q6* O15050 TRNK1_HUMAN tetratricopeptide repeat and ankyrin repeat containing 1 556 DNA repair ATP binding|ATP-dependent DNA helicase activity|DNA binding NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 73 ATGCCCTTCTGGAAGAGGATG 0.493000 33 68 0 0 1 0 0 FLNC 2318 broad.mit.edu 37 7 128487829 128487829 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:128487829G>A ENST00000325888.8 + 25 4628 c.4367G>A c.(4366-4368)gGt>gAt p.G1456D FLNC_ENST00000346177.6_Missense_Mutation_p.G1456D NM_001458.4 NP_001449.3 Q14315 FLNC_HUMAN filamin C, gamma 1456 cell junction assembly cytoskeleton|cytosol|plasma membrane|sarcomere actin binding biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2) 128 CTGGGGGCTGGTGTCAGGGCC 0.637000 6 228 0 0 1 0 0 AGPAT9 84803 broad.mit.edu 37 4 84519801 84519801 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:84519801G>A ENST00000395226.2 + 12 1348 c.1130G>A c.(1129-1131)gGa>gAa p.G377E AGPAT9_ENST00000509044.1_3'UTR|AGPAT9_ENST00000264409.4_Missense_Mutation_p.G377E NM_001256421.1 NP_001243350.1 Q53EU6 GPAT3_HUMAN 1-acylglycerol-3-phosphate O-acyltransferase 9 377 phospholipid biosynthetic process|regulation of TOR signaling cascade|triglyceride biosynthetic process endoplasmic reticulum membrane|integral to membrane glycerol-3-phosphate O-acyltransferase activity endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(3) 13 Hepatocellular(203;0.114) AACCAGGAAGGAGAAGATGCA 0.323000 39 96 0 0 1 0 0 CSMD2 114784 broad.mit.edu 37 1 34083104 34083104 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:34083104G>A ENST00000373381.4 - 38 6117 c.5941C>T c.(5941-5943)Ctc>Ttc p.L1981F CSMD2_ENST00000373377.1_Missense_Mutation_p.L80F|CSMD2_ENST00000373380.1_Missense_Mutation_p.L854F|CSMD2_ENST00000373388.2_Missense_Mutation_p.L80F NM_052896.3 NP_443128.2 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 1941 CUB 12. integral to membrane|plasma membrane protein binding NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1) 246 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) GGTACCTGGAGGGCATATCCC 0.567000 11 40 0 0 1 0 0 CR1L 1379 broad.mit.edu 37 1 207850809 207850809 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:207850809G>A ENST00000508064.2 + 2 233 c.173G>A c.(172-174)gGg>gAg p.G58E CR1L_ENST00000530905.1_3'UTR NM_175710.1 NP_783641.1 Q2VPA4 CR1L_HUMAN complement component (3b/4b) receptor 1-like 58 Sushi 1. cytoplasm|extracellular region|membrane endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 22 TTTCCCATTGGGACATATCTG 0.473000 115 120 0 0 1 0 0 APOF 319 broad.mit.edu 37 12 56755257 56755257 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:56755257G>A ENST00000398189.3 - 2 810 c.733C>T c.(733-735)Ctt>Ttt p.L245F APOF_ENST00000541105.1_Missense_Mutation_p.L227F NM_001638.2 NP_001629.1 Q13790 APOF_HUMAN apolipoprotein F 245 cholesterol metabolic process high-density lipoprotein particle|low-density lipoprotein particle cholesterol binding|lipid transporter activity|receptor binding breast(1)|lung(3)|prostate(1)|stomach(1) 6 GCAGGTTTAAGTGCAGCACTG 0.527000 35 70 0 0 1 0 0 LRRTM4 80059 broad.mit.edu 37 2 77746788 77746788 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:77746788C>T ENST00000409088.3 - 3 621 c.207G>A c.(205-207)agG>agA p.R69R LRRTM4_ENST00000409282.1_Silent_p.R70R|LRRTM4_ENST00000409884.1_Silent_p.R69R|LRRTM4_ENST00000409911.1_Silent_p.R70R|LRRTM4_ENST00000409093.1_Silent_p.R69R NM_024993.4 NP_079269.4 Q86VH4 LRRT4_HUMAN leucine rich repeat transmembrane neuronal 4 69 integral to membrane autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1) 64 Colorectal(11;0.059) TGCTGTTGAACCTTAATGATA 0.418000 38 100 0 0 1 0 0 EMR1 2015 broad.mit.edu 37 19 6937294 6937294 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:6937294G>A ENST00000312053.4 + 19 2459 c.2422G>A c.(2422-2424)Ggc>Agc p.G808S EMR1_ENST00000381407.5_Missense_Mutation_p.G667S|EMR1_ENST00000450315.3_Missense_Mutation_p.G631S|EMR1_ENST00000250572.8_Missense_Mutation_p.G743S|EMR1_ENST00000381404.4_Missense_Mutation_p.G789S NM_001974.4 NP_001965.3 Q14246 EMR1_HUMAN egf-like module containing, mucin-like, hormone receptor-like 1 808 cell adhesion|neuropeptide signaling pathway integral to plasma membrane calcium ion binding|G-protein coupled receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8) 62 all_hematologic(4;0.166) CTTCATCCTGGGCTGCTCCTG 0.547000 5 151 0 0 1 0 0 PREX1 57580 broad.mit.edu 37 20 47244416 47244416 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr20:47244416C>T ENST00000371941.3 - 38 4874 c.4852G>A c.(4852-4854)Gac>Aac p.D1618N PREX1_ENST00000396220.1_3'UTR NM_020820.3 NP_065871.2 Q8TCU6 PREX1_HUMAN phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1 1618 actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process cytosol|plasma membrane enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 110 BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198) CGCATGATGTCCGTGGCCTGC 0.677000 18 31 0 0 1 0 0 CHD5 26038 broad.mit.edu 37 1 6206744 6206744 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:6206744G>A ENST00000262450.3 - 10 1670 c.1571C>T c.(1570-1572)tCc>tTc p.S524F CHD5_ENST00000378021.1_5'UTR NM_015557.2 NP_056372.1 Q8TDI0 CHD5_HUMAN chromodomain helicase DNA binding protein 5 524 Chromo 1. chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2) 16 Ovarian(185;0.0634) all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15) Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193) CTTCACCCAGGAGCAATGCCA 0.657000 26 49 0 0 1 0 0 GYPE 2996 broad.mit.edu 37 4 144801589 144801589 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:144801589C>T ENST00000358615.4 - 2 162 c.111G>A c.(109-111)aaG>aaA p.K37K GYPE_ENST00000437468.2_Silent_p.K37K NM_198682.2 NP_941391.2 P15421 GLPE_HUMAN glycophorin E (MNS blood group) 37 integral to plasma membrane endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1) 5 all_hematologic(180;0.158) AGATGTAACTCTTTGTGACTG 0.383000 29 130 0 0 1 0 0 OMA1 115209 broad.mit.edu 37 1 58999839 58999839 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:58999839G>A ENST00000371226.3 - 4 1007 c.894C>T c.(892-894)ttC>ttT p.F298F OMA1_ENST00000358603.2_Silent_p.F298F|OMA1_ENST00000467063.1_5'UTR|DAB1_ENST00000485760.1_Intron NM_145243.3 NP_660286.1 Q96E52 OMA1_HUMAN OMA1 zinc metallopeptidase 298 proteolysis integral to membrane|mitochondrial membrane metal ion binding|metalloendopeptidase activity NS(1)|breast(1)|large_intestine(6)|liver(2)|lung(6)|prostate(1)|skin(1) 18 all_cancers(7;6.54e-05) CTGGAAGCACGAAGGCATTAA 0.318000 30 43 0 0 1 0 0 KRT79 338785 broad.mit.edu 37 12 53217722 53217722 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:53217722G>A ENST00000330553.5 - 6 1129 c.1095C>T c.(1093-1095)ctC>ctT p.L365L NM_175834.2 NP_787028.1 Q5XKE5 K2C79_HUMAN keratin 79 365 Coil 2.|Rod. keratin filament structural molecule activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 TAGTGCGGGTGAGCTCAGCAA 0.617000 34 57 0 0 1 0 0 TRIM28 10155 broad.mit.edu 37 19 59059912 59059912 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:59059912C>T ENST00000253024.5 + 9 1565 c.1276C>T c.(1276-1278)Cca>Tca p.P426S TRIM28_ENST00000341753.6_Missense_Mutation_p.P344S NM_005762.2 NP_005753.1 Q13263 TIF1B_HUMAN tripartite motif containing 28 426 epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent nucleoplasm chromo shadow domain binding|ligase activity|transcription corepressor activity|zinc ion binding biliary_tract(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|urinary_tract(1) 19 all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184) UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179) CATGGCCCCTCCAAGAGCCCC 0.612000 42 130 0 0 1 0 0 NEO1 4756 broad.mit.edu 37 15 73580765 73580765 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr15:73580765C>T ENST00000339362.5 + 25 3969 c.3522C>T c.(3520-3522)ccC>ccT p.P1174P NEO1_ENST00000560262.1_Silent_p.P1174P|NEO1_ENST00000261908.6_Silent_p.P1174P|NEO1_ENST00000558964.1_Silent_p.P1163P Q92859 NEO1_HUMAN neogenin 1 1174 axon guidance|cell adhesion|positive regulation of muscle cell differentiation Golgi apparatus|integral to plasma membrane|nucleus NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(9)|lung(26)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2) 57 AGCTGAAACCCATTGATAAGT 0.448000 12 88 0 0 1 0 0 VWF 7450 broad.mit.edu 37 12 6061048 6061048 + Splice_Site SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:6061048C>T ENST00000261405.5 - 50 8371 c.8115_splice c.e50-1 p.G2706_splice NM_000552.3 NP_000543.2 P04275 VWF_HUMAN von Willebrand factor 2706 blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5) 129 Antihemophilic Factor(DB00025) CATAATTTTACCCTAAGAAAA 0.453000 34 56 0 0 1 0 0 CACNA1C 775 broad.mit.edu 37 12 2676879 2676879 + Missense_Mutation SNP T T G TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:2676879T>G ENST00000399655.1 + 13 2079 c.1814T>G c.(1813-1815)cTg>cGg p.L605R CACNA1C_ENST00000399644.1_Missense_Mutation_p.L605R|CACNA1C_ENST00000399638.1_Missense_Mutation_p.L605R|CACNA1C_ENST00000406454.3_Missense_Mutation_p.L605R|CACNA1C_ENST00000399621.1_Missense_Mutation_p.L605R|CACNA1C_ENST00000480911.1_Missense_Mutation_p.L605R|CACNA1C_ENST00000335762.5_Missense_Mutation_p.L630R|CACNA1C_ENST00000399601.1_Missense_Mutation_p.L605R|CACNA1C_ENST00000399641.1_Missense_Mutation_p.L605R|CACNA1C_ENST00000399591.1_Missense_Mutation_p.L605R|CACNA1C_ENST00000399603.1_Missense_Mutation_p.L605R|CACNA1C_ENST00000327702.7_Missense_Mutation_p.L605R|CACNA1C_ENST00000399629.1_Missense_Mutation_p.L605R|CACNA1C_ENST00000399637.1_Missense_Mutation_p.L605R|CACNA1C_ENST00000344100.3_Missense_Mutation_p.L605R|CACNA1C_ENST00000399597.1_Missense_Mutation_p.L605R|CACNA1C_ENST00000399617.1_Missense_Mutation_p.L605R|CACNA1C_ENST00000402845.3_Missense_Mutation_p.L605R|CACNA1C_ENST00000399649.1_Missense_Mutation_p.L605R|CACNA1C_ENST00000399595.1_Missense_Mutation_p.L605R|CACNA1C_ENST00000399634.1_Missense_Mutation_p.L605R|CACNA1C_ENST00000347598.4_Missense_Mutation_p.L605R|CACNA1C_ENST00000399606.1_Missense_Mutation_p.L605R NM_000719.6|NM_001129829.1|NM_001129834.1 NP_000710.5|NP_001123301.1|NP_001123306.1 Q13936 CAC1C_HUMAN calcium channel, voltage-dependent, L type, alpha 1C subunit 605 axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion cytoplasm|postsynaptic density|voltage-gated calcium channel complex calmodulin binding|voltage-gated calcium channel activity NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4) 132 OV - Ovarian serous cystadenocarcinoma(31;0.00256) LUAD - Lung adenocarcinoma(1;0.134) Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661) GAGACCATCCTGGTGGAGACC 0.587000 12 20 0 0 1 0 0 MAGEC3 139081 broad.mit.edu 37 X 140985116 140985116 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chrX:140985116C>T ENST00000298296.1 + 7 1572 c.1572C>T c.(1570-1572)ttC>ttT p.F524F MAGEC3_ENST00000443323.2_Silent_p.F146F|MAGEC3_ENST00000409007.1_Silent_p.F226F|MAGEC3_ENST00000544766.1_Silent_p.F226F|MAGEC3_ENST00000536088.1_Silent_p.F226F NM_138702.1 NP_619647.1 Q8TD91 MAGC3_HUMAN melanoma antigen family C, 3 524 MAGE 2. p.F524L(2)|p.F226L(1) NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2) 69 Acute lymphoblastic leukemia(192;6.56e-05) ACTCCTATTTCTTTGAAGACA 0.448000 26 95 0 0 1 0 0 WDR96 80217 broad.mit.edu 37 10 105953688 105953688 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:105953688C>T ENST00000357060.3 - 11 1493 c.1378G>A c.(1378-1380)Gat>Aat p.D460N WDR96_ENST00000369720.1_Missense_Mutation_p.D391N|WDR96_ENST00000278064.2_Missense_Mutation_p.D391N|WDR96_ENST00000428666.1_Missense_Mutation_p.D461N NM_025145.5 NP_079421.5 Q8NDM7 WDR96_HUMAN WD repeat domain 96 460 NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 72 GATTCCTTATCATATACGCTG 0.557000 35 68 0 0 1 0 0 AP3B2 8120 broad.mit.edu 37 15 83328333 83328333 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr15:83328333C>T ENST00000261722.3 - 26 3435 c.3228G>A c.(3226-3228)gtG>gtA p.V1076V AP3B2_ENST00000535348.1_Silent_p.V1044V|RP11-752G15.3_ENST00000560650.1_RNA|AP3B2_ENST00000535359.1_Silent_p.V1095V NM_004644.3 NP_004635.2 Q13367 AP3B2_HUMAN adaptor-related protein complex 3, beta 2 subunit 1076 endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport clathrin coated vesicle membrane|COPI-coated vesicle|membrane coat binding|protein transporter activity breast(4)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(2) 41 BRCA - Breast invasive adenocarcinoma(143;0.229) GAGCCTGTATCACATCCTTTA 0.542000 30 56 0 0 1 0 0 CRISP3 10321 broad.mit.edu 37 6 49703299 49703299 + Nonsense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:49703299C>T ENST00000433368.2 - 4 333 c.264G>A c.(262-264)tgG>tgA p.W88* CRISP3_ENST00000393666.1_Nonsense_Mutation_p.W65*|CRISP3_ENST00000263045.4_Nonsense_Mutation_p.W78*|CRISP3_ENST00000423399.2_5'UTR|CRISP3_ENST00000371159.4_Nonsense_Mutation_p.W96* NM_001190986.1 NP_001177915.1 P54108 CRIS3_HUMAN cysteine-rich secretory protein 3 65 innate immune response proteinaceous extracellular matrix|specific granule breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(14)|skin(6)|upper_aerodigestive_tract(1) 27 Lung NSC(77;0.0161) KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156) CCTCTTTGTTCCATTCCTGAA 0.378000 73 113 0 0 1 0 0 ITGA10 8515 broad.mit.edu 37 1 145537806 145537806 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:145537806C>T ENST00000369304.3 + 21 2819 c.2644C>T c.(2644-2646)Cct>Tct p.P882S ITGA10_ENST00000539363.1_Missense_Mutation_p.P739S|ITGA10_ENST00000538811.1_Missense_Mutation_p.P751S NM_003637.3 NP_003628.2 O75578 ITA10_HUMAN integrin, alpha 10 882 cell-matrix adhesion|integrin-mediated signaling pathway integrin complex collagen binding|receptor activity NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 59 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) TGTGGGGCATCCTGTCTTCCA 0.592000 45 103 0 0 1 0 0 TMEFF2 23671 broad.mit.edu 37 2 193049153 193049153 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:193049153C>T ENST00000409056.3 - 3 338 c.339G>A c.(337-339)gaG>gaA p.E113E TMEFF2_ENST00000392314.1_Silent_p.E113E|TMEFF2_ENST00000272771.5_Silent_p.E113E Q9UIK5 TEFF2_HUMAN transmembrane protein with EGF-like and two follistatin-like domains 2 113 Kazal-like 1. extracellular region|integral to membrane breast(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(12)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 27 OV - Ovarian serous cystadenocarcinoma(117;0.0835) GCAGGTAACACTCATTCTGGT 0.468000 81 23 0 0 1 0 0 PAX4 5078 broad.mit.edu 37 7 127251023 127251023 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:127251023G>A ENST00000378740.2 - 10 929 c.906C>T c.(904-906)ctC>ctT p.L302L PAX4_ENST00000341640.2_3'UTR|PAX4_ENST00000463946.1_3'UTR|PAX4_ENST00000338516.3_3'UTR O43316 PAX4_HUMAN paired box 4 310 Transcription repression. cell differentiation|endocrine pancreas development|organ morphogenesis nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity cervix(1)|kidney(2)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 35 TCACAGGAAGGAGGAAGGAGC 0.562000 4 8 0 0 1 0 0 ATP2B1 490 broad.mit.edu 37 12 89984947 89984947 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:89984947G>A ENST00000428670.3 - 21 3933 c.3477C>T c.(3475-3477)atC>atT p.I1159I ATP2B1_ENST00000261173.2_Silent_p.I1159I|ATP2B1_ENST00000393164.2_Silent_p.I902I|ATP2B1_ENST00000348959.3_Silent_p.I1123I|ATP2B1_ENST00000359142.3_3'UTR|RP11-981P6.1_ENST00000552778.1_RNA P20020 AT2B1_HUMAN ATPase, Ca++ transporting, plasma membrane 1 1197 ATP biosynthetic process|platelet activation integral to plasma membrane ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1) 45 CAATAAGGGGGATATGAGGCT 0.413000 37 126 0 0 1 0 0 OR2L13 284521 broad.mit.edu 37 1 248263295 248263295 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:248263295C>T ENST00000366478.2 + 3 955 c.618C>T c.(616-618)ctC>ctT p.L206L OR2L13_ENST00000358120.2_Silent_p.L206L NM_175911.2 NP_787107.1 Q8N349 OR2LD_HUMAN olfactory receptor, family 2, subfamily L, member 13 206 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity|protein binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(32)|ovary(1)|skin(3)|upper_aerodigestive_tract(1) 59 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0132) GCCTCTTTCTCCTTTTCCCTT 0.443000 8 160 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9085504 9085504 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:9085504C>T ENST00000397910.4 - 1 6514 c.6311G>A c.(6310-6312)aGa>aAa p.R2104K NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 2104 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 TTCTGGATTTCTTTGCTTAGC 0.502000 97 184 0 0 1 0 0 CHERP 10523 broad.mit.edu 37 19 16639015 16639015 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:16639015G>A ENST00000546361.2 - 9 1332 c.1181C>T c.(1180-1182)cCa>cTa p.P394L CTD-3222D19.2_ENST00000409035.1_Intron|CHERP_ENST00000198939.6_Missense_Mutation_p.P405L NM_006387.5 NP_006378.3 Q8IWX8 CHERP_HUMAN calcium homeostasis endoplasmic reticulum protein 394 Pro-rich. cellular calcium ion homeostasis|negative regulation of cell proliferation|nervous system development|RNA processing endoplasmic reticulum|perinuclear region of cytoplasm RNA binding endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|stomach(1)|urinary_tract(3) 24 GACCCCTCCTGGAGCTTCGTA 0.637000 65 135 0 0 1 0 0 RP11-909M7.3 0 broad.mit.edu 37 14 101442850 101442850 + RNA SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr14:101442850G>A ENST00000554693.2 + 0 548 SNORD114-19_ENST00000363072.1_RNA TATGAATCTTGGATAATGGAT 0.308000 38 66 0 0 1 0 0 STXBP5L 9515 broad.mit.edu 37 3 120959305 120959305 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:120959305G>A ENST00000273666.6 + 14 1622 c.1351G>A c.(1351-1353)Gga>Aga p.G451R STXBP5L_ENST00000472879.1_Missense_Mutation_p.G451R|STXBP5L_ENST00000497029.1_Missense_Mutation_p.G451R|STXBP5L_ENST00000492541.1_Missense_Mutation_p.G451R|STXBP5L_ENST00000471454.1_Missense_Mutation_p.G451R NM_014980.2 NP_055795.1 Q9Y2K9 STB5L_HUMAN syntaxin binding protein 5-like 451 exocytosis|protein transport cytoplasm|integral to membrane|plasma membrane NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 68 GBM - Glioblastoma multiforme(114;0.0694) AATCAGTGGAGGAGCTTGGAA 0.303000 14 35 0 0 1 0 0 TAP1 6890 broad.mit.edu 37 6 32814904 32814904 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:32814904G>A ENST00000354258.4 - 10 2322 c.2161C>T c.(2161-2163)Ccg>Tcg p.P721S PSMB9_ENST00000395330.1_Intron|TAP1_ENST00000425148.2_Missense_Mutation_p.P460S NM_000593.5 NP_000584.2 Q03518 TAP1_HUMAN transporter 1, ATP-binding cassette, sub-family B (MDR/TAP) 721 ABC transporter. antigen processing and presentation of endogenous peptide antigen via MHC class I|cytosol to ER transport|intracellular transport of viral proteins in host cell|positive regulation of T cell mediated cytotoxicity cytosol|plasma membrane|TAP complex ADP binding|ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|protein homodimerization activity|TAP1 binding|TAP2 binding|tapasin binding breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(4)|prostate(1)|skin(1) 21 AGTACACACGGTTTCCGGATC 0.562000 27 128 0 0 1 0 0 GABRA2 2555 broad.mit.edu 37 4 46305534 46305534 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:46305534G>A ENST00000510861.1 - 8 972 c.799C>T c.(799-801)Ctc>Ttc p.L267F GABRA2_ENST00000381620.4_Missense_Mutation_p.L267F|GABRA2_ENST00000507069.1_Missense_Mutation_p.L267F|GABRA2_ENST00000356504.1_Missense_Mutation_p.L267F|GABRA2_ENST00000514090.1_Missense_Mutation_p.L267F|GABRA2_ENST00000540012.1_Missense_Mutation_p.L212F|GABRA2_ENST00000515082.1_Missense_Mutation_p.L267F P47869 GBRA2_HUMAN gamma-aminobutyric acid (GABA) A receptor, alpha 2 267 gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 56 Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) ACTTGGGAGAGAATGACAGTC 0.393000 45 97 0 0 1 0 0 C1orf105 92346 broad.mit.edu 37 1 172414217 172414217 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:172414217C>T ENST00000367727.4 + 2 224 c.26C>T c.(25-27)tCt>tTt p.S9F NM_139240.3 NP_640333.3 O95561 CA105_HUMAN chromosome 1 open reading frame 105 9 large_intestine(1)|lung(12)|prostate(1)|skin(1) 15 CTCTAGGCTTCTGTTCCAAAA 0.423000 51 38 0 0 1 0 0 APCS 325 broad.mit.edu 37 1 159558190 159558190 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:159558190G>A ENST00000255040.2 + 2 461 c.364G>A c.(364-366)Ggt>Agt p.G122S NM_001639.3 NP_001630.1 P02743 SAMP_HUMAN amyloid P component, serum 122 Pentaxin. acute-phase response|chaperone-mediated protein complex assembly|protein folding extracellular space metal ion binding|sugar binding|unfolded protein binding breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(2) 20 all_hematologic(112;0.0429) GTCCTCATCAGGTATTGCTGA 0.463000 53 85 0 0 1 0 0 XDH 7498 broad.mit.edu 37 2 31602740 31602740 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:31602740C>T ENST00000379416.3 - 13 1283 c.1235G>A c.(1234-1236)aGc>aAc p.S412N NM_000379.3 NP_000370.2 P47989 XDH_HUMAN xanthine dehydrogenase 412 FAD-binding PCMH-type. purine nucleotide catabolic process|xanthine catabolic process cytosol|extracellular region|peroxisome 2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1) 74 Acute lymphoblastic leukemia(172;0.155) Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163) CACCTCCCTGCTGTAGGGGAT 0.527000 53 100 0 0 1 0 0 CACNA1E 777 broad.mit.edu 37 1 181479640 181479640 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:181479640C>T ENST00000526775.1 + 2 459 c.294C>T c.(292-294)acC>acT p.T98T CACNA1E_ENST00000367570.1_Silent_p.T98T|CACNA1E_ENST00000358338.5_Silent_p.T49T|CACNA1E_ENST00000367567.4_5'UTR|CACNA1E_ENST00000357570.5_Silent_p.T49T|CACNA1E_ENST00000367573.2_Silent_p.T98T|CACNA1E_ENST00000360108.3_Silent_p.T98T NM_001205294.1 NP_001192223.1 Q15878 CAC1E_HUMAN calcium channel, voltage-dependent, R type, alpha 1E subunit 98 energy reserve metabolic process|membrane depolarization|synaptic transmission voltage-gated calcium channel complex voltage-gated calcium channel activity NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 204 TCCTGGCCACCATCATTGCCA 0.537000 22 53 0 0 1 0 0 CCKAR 886 broad.mit.edu 37 4 26487471 26487471 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:26487471C>T ENST00000295589.3 - 3 608 c.414G>A c.(412-414)gaG>gaA p.E138E NM_000730.2 NP_000721.1 P32238 CCKAR_HUMAN cholecystokinin A receptor 138 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration|response to nutrient integral to plasma membrane cholecystokinin receptor activity NS(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|pancreas(1)|skin(1) 29 Breast(46;0.0503) Ceruletide(DB00403) CACCATATCTCTCTAGAGATA 0.458000 14 48 0 0 1 0 0 PIP5K1B 8395 broad.mit.edu 37 9 71532484 71532484 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:71532484C>T ENST00000265382.3 + 9 1097 c.792C>T c.(790-792)atC>atT p.I264I PIP5K1B_ENST00000541509.1_Silent_p.I264I NM_003558.2 NP_003549.1 O14986 PI51B_HUMAN phosphatidylinositol-4-phosphate 5-kinase, type I, beta 264 PIPK. endomembrane system|membrane|uropod 1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|protein binding breast(1)|large_intestine(2)|stomach(1) 4 Lung(182;0.133) GCTTCAAGATCATGGATTATA 0.458000 46 479 0 0 1 0 0 TRPC7 57113 broad.mit.edu 37 5 135567151 135567151 + Missense_Mutation SNP A A G TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:135567151A>G ENST00000513104.1 - 8 2213 c.1931T>C c.(1930-1932)tTc>tCc p.F644S TRPC7_ENST00000355180.3_Missense_Mutation_p.F583S|TRPC7_ENST00000426057.2_Missense_Mutation_p.F528S NM_020389.2 NP_065122.1 Q9HCX4 TRPC7_HUMAN transient receptor potential cation channel, subfamily C, member 7 644 axon guidance|platelet activation integral to membrane|plasma membrane calcium channel activity|protein binding NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3) 46 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) GTTCTCGATGAATTTGTGGTC 0.403000 7 26 0 0 1 0 0 BIN1 274 broad.mit.edu 37 2 127826524 127826524 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:127826524C>T ENST00000316724.5 - 6 906 c.495G>A c.(493-495)aaG>aaA p.K165K BIN1_ENST00000409400.1_Silent_p.K165K|BIN1_ENST00000393041.3_Silent_p.K165K|BIN1_ENST00000346226.3_Silent_p.K165K|BIN1_ENST00000352848.3_Silent_p.K165K|BIN1_ENST00000376113.2_Silent_p.K165K|BIN1_ENST00000393040.3_Silent_p.K165K|BIN1_ENST00000357970.3_Silent_p.K165K|BIN1_ENST00000259238.4_Silent_p.K165K|BIN1_ENST00000348750.4_Silent_p.K165K|BIN1_ENST00000351659.3_Silent_p.K165K NM_139343.2 NP_647593.1 O00499 BIN1_HUMAN bridging integrator 1 165 BAR. cell proliferation|endocytosis|interspecies interaction between organisms|multicellular organismal development actin cytoskeleton|nucleus NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(3)|skin(3) 24 Colorectal(110;0.0831) BRCA - Breast invasive adenocarcinoma(221;0.073) CTTCATCCTTCTTTTTGGCAG 0.627000 36 86 0 0 1 0 0 IL36A 27179 broad.mit.edu 37 2 113765423 113765423 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:113765423G>A ENST00000259211.6 + 4 690 c.279G>A c.(277-279)atG>atA p.M93I NM_014440.1 NP_055255.1 Q9UHA7 IL36A_HUMAN interleukin 36, alpha 93 immune response|inflammatory response extracellular space cytokine activity|interleukin-1 receptor binding large_intestine(1)|lung(3)|ovary(2)|skin(1)|stomach(2) 9 AGGATATAATGGATTTGTACA 0.473000 40 102 0 0 1 0 0 KRTAP5-4 387267 broad.mit.edu 37 11 1643029 1643029 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:1643029C>T ENST00000399682.1 - 1 339 c.295G>A c.(295-297)Ggg>Agg p.G99R NM_001012709.1 NP_001012727.1 Q6L8H1 KRA54_HUMAN keratin associated protein 5-4 99 9 X 4 AA repeats of C-C-X-P. keratin filament NS(1)|endometrium(9)|kidney(2)|lung(2)|pancreas(1)|prostate(3)|skin(2) 20 all_epithelial(84;0.00819)|Breast(177;0.00832)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082) CCACAGCCCCCCTTGGAACCC 0.682000 36 91 0 0 1 0 0 SCN10A 6336 broad.mit.edu 37 3 38797310 38797310 + Missense_Mutation SNP G G A rs142235256 byFrequency TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:38797310G>A ENST00000449082.2 - 10 1429 c.1430C>T c.(1429-1431)cCc>cTc p.P477L NM_006514.2 NP_006505.2 Q9Y5Y9 SCNAA_HUMAN sodium channel, voltage-gated, type X, alpha subunit 477 sensory perception voltage-gated sodium channel complex NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 150 KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945) Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296) ATCAGAGCGGGGTGATTTGTT 0.483000 54 130 0 0 1 0 0 ABCG5 64240 broad.mit.edu 37 2 44051154 44051154 + Nonsense_Mutation SNP G G A rs119479065 TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:44051154G>A ENST00000543989.1 - 5 1742 c.37C>T c.(37-39)Cga>Tga p.R13* ABCG5_ENST00000405322.1_Nonsense_Mutation_p.R237*|ABCG5_ENST00000260645.1_Nonsense_Mutation_p.R408* Q9H222 ABCG5_HUMAN ATP-binding cassette, sub-family G (WHITE), member 5 408 cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption apical plasma membrane|integral to membrane ATP binding|ATPase activity|protein heterodimerization activity p.R408R(1) breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 33 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) ACATTGCTTCGGACCCGCAGA 0.507000 30 87 0 0 1 0 0 SPATA31A3 727830 broad.mit.edu 37 9 40705685 40705685 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:40705685G>A ENST00000356699.5 + 4 3371 c.3342G>A c.(3340-3342)agG>agA p.R1114R RP11-395E19.5_ENST00000432614.1_lincRNA NM_001083124.1 NP_001076593.1 SPATA31 subfamily A, member 3 AGAAGTTTAGGAAGCCCAACT 0.478000 177 313 0 0 1 0 0 ZFHX4 79776 broad.mit.edu 37 8 77766544 77766544 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:77766544C>T ENST00000521891.2 + 10 7835 c.7387C>T c.(7387-7389)Ccc>Tcc p.P2463S ZFHX4_ENST00000455469.2_Missense_Mutation_p.P2418S|ZFHX4_ENST00000050961.6_Missense_Mutation_p.P2418S|ZFHX4_ENST00000518282.1_Missense_Mutation_p.P2437S NM_024721.4 NP_078997.4 Q86UP3 ZFHX4_HUMAN zinc finger homeobox 4 2418 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6) 432 BRCA - Breast invasive adenocarcinoma(89;0.0895) CGGAAGACCTCCCTCGGCCTC 0.542000 HNSCC(33;0.089) 14 25 0 0 1 0 0 SCN2A 6326 broad.mit.edu 37 2 166245847 166245847 + Missense_Mutation SNP T T C TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:166245847T>C ENST00000375437.2 + 27 5821 c.5531T>C c.(5530-5532)cTg>cCg p.L1844P SCN2A_ENST00000375427.2_Missense_Mutation_p.L1844P|SCN2A_ENST00000357398.3_Missense_Mutation_p.L1844P|SCN2A_ENST00000283256.6_Missense_Mutation_p.L1844P NM_001040142.1 NP_001035232.1 Q99250 SCN2A_HUMAN sodium channel, voltage-gated, type II, alpha subunit 1844 myelination node of Ranvier|voltage-gated sodium channel complex voltage-gated sodium channel activity NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 118 Lamotrigine(DB00555) GCCATGGATCTGCCCATGGTG 0.458000 11 180 0 0 1 0 0 DNAH17 8632 broad.mit.edu 37 17 76456250 76456250 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:76456250C>T ENST00000389840.5 - 59 9511 c.9387G>A c.(9385-9387)ctG>ctA p.L3129L DNAH17_ENST00000585328.1_Silent_p.L3138L|DNAH17_ENST00000586052.1_5'UTR dynein, axonemal, heavy chain 17 NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 116 BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656) TTACCTTATTCAGAGTGTCCA 0.587000 4 23 0 0 1 0 0 CSMD3 114788 broad.mit.edu 37 8 114111063 114111063 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:114111063G>A ENST00000297405.5 - 5 1083 c.839C>T c.(838-840)tCa>tTa p.S280L CSMD3_ENST00000352409.3_Missense_Mutation_p.S280L|CSMD3_ENST00000343508.3_Missense_Mutation_p.S240L|CSMD3_ENST00000519485.1_5'UTR|CSMD3_ENST00000455883.2_Missense_Mutation_p.S280L NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 280 CUB 2. integral to membrane|plasma membrane breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 AAATATGAGTGAAATTGTGTC 0.383000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 20 56 0 0 1 0 0 ADAM20 8748 broad.mit.edu 37 14 70991205 70991205 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr14:70991205G>A ENST00000256389.3 - 2 664 c.420C>T c.(418-420)ttC>ttT p.F140F RP11-486O13.4_ENST00000556646.1_lincRNA NM_003814.4 NP_003805.3 O43506 ADA20_HUMAN ADAM metallopeptidase domain 20 90 proteolysis|single fertilization integral to membrane metalloendopeptidase activity|zinc ion binding autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(1)|skin(2) 27 KIRC - Kidney renal clear cell carcinoma(12;0.133)|Kidney(31;0.188) all cancers(60;0.00294)|BRCA - Breast invasive adenocarcinoma(234;0.00668)|OV - Ovarian serous cystadenocarcinoma(108;0.0344) CTGTGTAGGTGAACACAGGAA 0.532000 36 73 0 0 1 0 0 RGS9 8787 broad.mit.edu 37 17 63221589 63221589 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:63221589C>T ENST00000449996.3 + 18 1940 c.1868C>T c.(1867-1869)tCc>tTc p.S623F RGS9_ENST00000443584.3_Missense_Mutation_p.S623F|RGS9_ENST00000262406.9_Missense_Mutation_p.S626F NM_001081955.2 NP_001075424.1 O75916 RGS9_HUMAN regulator of G-protein signaling 9 626 intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway|visual perception cytoplasm|heterotrimeric G-protein complex GTPase activator activity|signal transducer activity NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(8)|liver(2)|lung(12)|ovary(2)|prostate(3)|skin(3) 41 CGATTGAAATCCAAGAGAGTA 0.597000 5 177 0 0 1 0 0 DMBT1 1755 broad.mit.edu 37 10 124336159 124336159 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:124336159C>T ENST00000338354.3 + 7 634 c.528C>T c.(526-528)tcC>tcT p.S176S DMBT1_ENST00000368955.3_Silent_p.S176S|DMBT1_ENST00000344338.3_Silent_p.S176S|DMBT1_ENST00000359586.6_Silent_p.S176S|DMBT1_ENST00000368909.3_Silent_p.S176S|DMBT1_ENST00000330163.4_Silent_p.S176S|DMBT1_ENST00000368956.2_Silent_p.S176S Q9UGM3 DMBT1_HUMAN deleted in malignant brain tumors 1 176 SRCR 1. epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3) 72 all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238) GACACGAATCCTACCTGTGGA 0.577000 66 119 0 0 1 0 0 PRSS42 339906 broad.mit.edu 37 3 46871962 46871962 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:46871962C>T ENST00000447340.1 - 3 349 c.296G>A c.(295-297)gGc>gAc p.G99D PRSS42_ENST00000429665.1_Missense_Mutation_p.A272T Q7Z5A4 PRS42_HUMAN protease, serine, 42 0 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity breast(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1) 8 TATTCACAGGCCAAGCGGCCC 0.473000 8 12 0 0 1 0 0 CSMD1 64478 broad.mit.edu 37 8 2820090 2820090 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:2820090C>T ENST00000602557.1 - 62 10084 c.9529G>A c.(9529-9531)Gaa>Aaa p.E3177K CSMD1_ENST00000602723.1_Missense_Mutation_p.E3000K|CSMD1_ENST00000537824.1_Missense_Mutation_p.E3176K|CSMD1_ENST00000400186.3_Missense_Mutation_p.E3000K|CSMD1_ENST00000542608.1_Missense_Mutation_p.E2999K|CSMD1_ENST00000520002.1_Missense_Mutation_p.E3177K Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 3177 Sushi 26. integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) AAGAAGACTTCGGACTTATAG 0.522000 17 46 0 0 1 0 0 C21orf33 8209 broad.mit.edu 37 21 45555945 45555945 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr21:45555945C>T ENST00000291577.6 + 3 291 c.198C>T c.(196-198)atC>atT p.I66I C21orf33_ENST00000427803.2_Silent_p.I66I|C21orf33_ENST00000493883.1_3'UTR|C21orf33_ENST00000348499.5_Silent_p.I66I NM_004649.6 NP_004640.3 P30042 ES1_HUMAN chromosome 21 open reading frame 33 66 mitochondrion NS(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1) 8 STAD - Stomach adenocarcinoma(101;0.168)|Colorectal(79;0.191) CGTGCAGGATCCTGGTGCACC 0.517000 15 29 0 0 1 0 0 KCNIP1 30820 broad.mit.edu 37 5 169931613 169931613 + Missense_Mutation SNP A A G TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:169931613A>G ENST00000328939.4 + 1 574 c.37A>G c.(37-39)Acc>Gcc p.T13A KCNIP1_ENST00000520740.1_5'UTR|KCNIP1_ENST00000377360.4_Intron|KCNIP1_ENST00000390656.4_Missense_Mutation_p.T13A|KCNIP1_ENST00000411494.1_Missense_Mutation_p.T13A|KCNIP1_ENST00000434108.1_Missense_Mutation_p.T13A NM_001034837.1|NM_014592.2 NP_001030009.1|NP_055407.1 Q9NZI2 KCIP1_HUMAN Kv channel interacting protein 1 13 detection of calcium ion|signal transduction|synaptic transmission plasma membrane potassium channel activity|voltage-gated ion channel activity autonomic_ganglia(1)|large_intestine(7)|lung(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 18 Renal(175;0.000159)|Lung NSC(126;0.0191)|all_lung(126;0.0297) Medulloblastoma(196;0.0109)|all_neural(177;0.0177) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) ATCTCTGCAAACCAAACAAAG 0.622000 30 87 0 0 1 0 0 RGS3 5998 broad.mit.edu 37 9 116279900 116279900 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:116279900C>T ENST00000374140.2 + 17 1963 c.1754C>T c.(1753-1755)gCc>gTc p.A585V RGS3_ENST00000317613.6_Missense_Mutation_p.A473V|RGS3_ENST00000343817.5_Missense_Mutation_p.A304V|RGS3_ENST00000374136.1_Missense_Mutation_p.A211V|RGS3_ENST00000350696.5_Missense_Mutation_p.A585V|RGS3_ENST00000394646.3_Missense_Mutation_p.A304V NM_144488.4 NP_652759.3 P49796 RGS3_HUMAN regulator of G-protein signaling 3 585 A -> V (in Ref. 2; AAM33255). inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway cytosol|nucleus|plasma membrane GTPase activator activity|signal transducer activity cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 48 AACAAGGCTGCCGAGGTAAGA 0.527000 30 81 0 0 1 0 0 DGKD 8527 broad.mit.edu 37 2 234344536 234344536 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:234344536C>T ENST00000264057.2 + 6 671 c.659C>T c.(658-660)tCg>tTg p.S220L DGKD_ENST00000409813.3_Missense_Mutation_p.S176L NM_152879.2 NP_690618.2 Q16760 DGKD_HUMAN diacylglycerol kinase, delta 130kDa 220 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell growth|diacylglycerol metabolic process|endocytosis|epidermal growth factor receptor signaling pathway|multicellular organismal development|platelet activation|protein homooligomerization|protein transport|response to organic substance|second-messenger-mediated signaling cytoplasm|cytoplasmic membrane-bounded vesicle|plasma membrane ATP binding|diacylglycerol binding|diacylglycerol kinase activity|metal ion binding|protein heterodimerization activity|protein homodimerization activity central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(13)|lung(15)|ovary(1)|pancreas(1)|skin(1) 38 Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538) Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655) Phosphatidylserine(DB00144) ACACTGGCCTCGATCGGGAAG 0.557000 35 70 0 0 1 0 0 ZNF235 9310 broad.mit.edu 37 19 44792953 44792953 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:44792953G>A ENST00000291182.4 - 5 737 c.635C>T c.(634-636)cCa>cTa p.P212L ZNF235_ENST00000589799.1_Intron|ZNF235_ENST00000589248.1_Intron NM_004234.4 NP_004225.3 Q14590 ZN235_HUMAN zinc finger protein 235 212 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 29 Prostate(69;0.0352)|all_neural(266;0.116) GTCAACATATGGAGCAAATAT 0.328000 6 126 0 0 1 0 0 SLIT2 9353 broad.mit.edu 37 4 20493405 20493405 + Missense_Mutation SNP C C A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:20493405C>A ENST00000504154.1 + 9 1049 c.797C>A c.(796-798)cCt>cAt p.P266H SLIT2_ENST00000273739.5_Missense_Mutation_p.P270H|SLIT2_ENST00000503823.1_Missense_Mutation_p.P266H|SLIT2_ENST00000503837.1_Missense_Mutation_p.P270H NM_004787.1 NP_004778.1 O94813 SLIT2_HUMAN slit homolog 2 (Drosophila) 266 LRRNT 2. apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development cell surface|cytoplasm|extracellular space|plasma membrane calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1) 116 TTTATGGCTCCTTCTTGTAGT 0.403000 55 134 7.91745e-34 8.01269e-34 1 1 0 SYNJ2 8871 broad.mit.edu 37 6 158517141 158517141 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:158517141G>A ENST00000355585.4 + 27 4311 c.4236G>A c.(4234-4236)caG>caA p.Q1412Q SYNJ2_ENST00000367112.1_Silent_p.Q497Q|SYNJ2_ENST00000367122.2_Silent_p.Q1367Q NM_001178088.1|NM_003898.3 NP_001171559.1|NP_003889.1 O15056 SYNJ2_HUMAN synaptojanin 2 1412 nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 46 OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05) GTGATTATCAGGACCCCTTCT 0.517000 61 116 0 0 1 0 0 RNF111 54778 broad.mit.edu 37 15 59347928 59347928 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr15:59347928C>T ENST00000348370.4 + 4 1488 c.1055C>T c.(1054-1056)tCc>tTc p.S352F RNF111_ENST00000559209.1_Missense_Mutation_p.S352F|RNF111_ENST00000561186.1_Missense_Mutation_p.S352F|RNF111_ENST00000434298.1_Missense_Mutation_p.S352F|RNF111_ENST00000557998.1_Missense_Mutation_p.S352F NM_001270528.1|NM_001270529.1|NM_017610.7 NP_001257457.1|NP_001257458.1|NP_060080.6 Q6ZNA4 RN111_HUMAN ring finger protein 111 352 Interaction with AXIN1.|Ser-rich. multicellular organismal development|positive regulation of transcription, DNA-dependent cytoplasm|nucleus protein binding|ubiquitin-protein ligase activity|zinc ion binding breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 all cancers(107;0.194) AGCCAGGGTTCCAGTTCTCAT 0.433000 13 33 0 0 1 0 0 PCDHGA4 56111 broad.mit.edu 37 5 140734917 140734917 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:140734917G>A ENST00000571252.1 + 1 150 c.150G>A c.(148-150)aaG>aaA p.K50K PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron NM_018917.2 NP_061740.1 endometrium(1)|kidney(1)|lung(3) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ACATCGCCAAGGACCTGGGGT 0.637000 41 130 0 0 1 0 0 BRSK1 84446 broad.mit.edu 37 19 55815942 55815942 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:55815942G>A ENST00000309383.1 + 14 1648 c.1371G>A c.(1369-1371)ccG>ccA p.P457P BRSK1_ENST00000326848.7_Silent_p.P152P|BRSK1_ENST00000588584.1_3'UTR|BRSK1_ENST00000590333.1_Silent_p.P473P NM_032430.1 NP_115806.1 Q8TDC3 BRSK1_HUMAN BR serine/threonine kinase 1 457 establishment of cell polarity|G2/M transition DNA damage checkpoint|neuron differentiation|response to UV cell junction|cytoplasm|nucleus magnesium ion binding|protein serine/threonine kinase activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(15)|ovary(2)|prostate(2)|skin(6)|stomach(1) 48 Renal(1328;0.245) BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.0474) CCTTTTCACCGGAGCCGGGGG 0.657000 6 12 0 0 1 0 0 UTRN 7402 broad.mit.edu 37 6 144843287 144843287 + Missense_Mutation SNP T T A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:144843287T>A ENST00000367545.3 + 39 5713 c.5713T>A c.(5713-5715)Ttt>Att p.F1905I NM_007124.2 NP_009055.2 P46939 UTRO_HUMAN utrophin 1905 muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane actin binding|calcium ion binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 148 Ovarian(120;0.218) OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213) AGACTTCTCTTTTCAGGAAGA 0.378000 16 147 0 0 1 0 0 AL132709.8 0 broad.mit.edu 37 14 101431161 101431161 + RNA SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr14:101431161G>A ENST00000423708.3 + 0 736 CTTATACAGTGAATACATGTT 0.353000 14 46 0 0 1 0 0 SLITRK3 22865 broad.mit.edu 37 3 164906892 164906892 + Nonsense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:164906892C>T ENST00000475390.1 - 2 2170 c.1727G>A c.(1726-1728)tGg>tAg p.W576* SLITRK3_ENST00000241274.3_Nonsense_Mutation_p.W576* O94933 SLIK3_HUMAN SLIT and NTRK-like family, member 3 576 LRRCT 2. integral to membrane NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5) 119 GGTTTCGATCCACTGTTTAAA 0.527000 HNSCC(40;0.11) 44 89 0 0 1 0 0 PAN2 9924 broad.mit.edu 37 12 56720625 56720625 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:56720625G>A ENST00000425394.2 - 7 1414 c.1038C>T c.(1036-1038)gcC>gcT p.A346A PAN2_ENST00000548043.1_Silent_p.A346A|PAN2_ENST00000440411.3_Silent_p.A346A|PAN2_ENST00000257931.5_Silent_p.A346A NM_001127460.2 NP_001120932.1 Q504Q3 PAN2_HUMAN PAN2 poly(A) specific ribonuclease subunit homolog (S. cerevisiae) 346 nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|ubiquitin-dependent protein catabolic process cytosol|nucleus nucleic acid binding|poly(A)-specific ribonuclease activity|ubiquitin thiolesterase activity p.A346A(1) NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 41 AATCCCCAAAGGCCAGAGCCT 0.562000 61 179 0 0 1 0 0 SESN2 83667 broad.mit.edu 37 1 28599203 28599203 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:28599203C>T ENST00000253063.3 + 5 970 c.649C>T c.(649-651)Ctc>Ttc p.L217F NM_031459.4 NP_113647.1 P58004 SESN2_HUMAN sestrin 2 217 cell cycle arrest cytoplasm|nucleus cervix(1)|endometrium(3)|large_intestine(5)|lung(7)|ovary(2)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 27 Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;4.76e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261) OV - Ovarian serous cystadenocarcinoma(117;2.98e-22)|Colorectal(126;3.04e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00279)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00595)|READ - Rectum adenocarcinoma(331;0.0649) CTGTGGCATCCTCCCTGAGGG 0.642000 52 89 0 0 1 0 0 DLC1 10395 broad.mit.edu 37 8 13357154 13357154 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:13357154C>T ENST00000276297.4 - 2 836 c.427G>A c.(427-429)Gga>Aga p.G143R DLC1_ENST00000511869.1_Missense_Mutation_p.G143R|DLC1_ENST00000316609.5_Missense_Mutation_p.G143R NM_182643.2 NP_872584.2 Q96QB1 RHG07_HUMAN deleted in liver cancer 1 143 actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction caveola|cytosol|focal adhesion|nucleus Rho GTPase activator activity|SH2 domain binding NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 110 GAGCCTGCTCCTTGGATCATA 0.408000 87 227 0 0 1 0 0 ZNF98 148198 broad.mit.edu 37 19 22575685 22575685 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:22575685C>T ENST00000357774.5 - 4 473 c.352G>A c.(352-354)Gaa>Aaa p.E118K NM_001098626.1 NP_001092096.1 A6NK75 ZNF98_HUMAN zinc finger protein 98 118 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2) 37 all_cancers(12;0.0536)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00542)|Hepatocellular(1079;0.244) TGTAAATTTTCACGTCCACAT 0.338000 17 16 0 0 1 0 0 BEGAIN 57596 broad.mit.edu 37 14 101004389 101004389 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr14:101004389C>T ENST00000556751.1 - 5 4911 c.1507G>A c.(1507-1509)Gcc>Acc p.A503T BEGAIN_ENST00000355173.2_Missense_Mutation_p.A567T|BEGAIN_ENST00000443071.2_Missense_Mutation_p.A567T Q9BUH8 BEGIN_HUMAN brain-enriched guanylate kinase-associated 567 cytoplasm|membrane protein binding cervix(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|stomach(1) 14 Melanoma(154;0.212) CGCGGAAAGGCCTGCTGGGGG 0.687000 13 31 0 0 1 0 0 PPARG 5468 broad.mit.edu 37 3 12421209 12421209 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:12421209C>T ENST00000397026.2 + 4 406 c.23C>T c.(22-24)aCc>aTc p.T8I PPARG_ENST00000397010.2_Missense_Mutation_p.T2I|PPARG_ENST00000397012.2_Missense_Mutation_p.T2I|PPARG_ENST00000397015.2_Missense_Mutation_p.T2I|PPARG_ENST00000397000.1_Missense_Mutation_p.T2I|PPARG_ENST00000539812.1_5'UTR|PPARG_ENST00000309576.6_Missense_Mutation_p.T2I|PPARG_ENST00000287820.6_Missense_Mutation_p.T30I P37231 PPARG_HUMAN peroxisome proliferator-activated receptor gamma 30 activation of caspase activity|cell fate commitment|cell maturation|cellular response to insulin stimulus|epithelial cell differentiation|glucose homeostasis|induction of apoptosis|innate immune response|lipid homeostasis|lipoprotein transport|long-chain fatty acid transport|low-density lipoprotein particle receptor biosynthetic process|monocyte differentiation|negative regulation of cholesterol storage|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of macrophage derived foam cell differentiation|negative regulation of receptor biosynthetic process|negative regulation of sequestering of triglyceride|negative regulation of transcription from RNA polymerase II promoter|placenta development|positive regulation of fat cell differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to lipid|response to low-density lipoprotein particle stimulus|white fat cell differentiation cytosol|nucleoplasm activating transcription factor binding|arachidonic acid binding|drug binding|enzyme binding|prostaglandin receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding PAX8/PPARG(117) breast(2)|endometrium(4)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1) 20 Atorvastatin(DB01076)|Icosapent(DB00159)|Pioglitazone(DB01132)|Rosiglitazone(DB00412)|Troglitazone(DB00197) TCAGAAATGACCATGGTTGAC 0.443000 T PAX8 follicular thyroid """Insulin resistance ; lipodystrophy, familial partial L;diabetes mellitus, insulin-resistantI, with acanthosis nigricans and hypertension""" 31 61 0 0 1 0 0 C7orf62 219557 broad.mit.edu 37 7 88423980 88423980 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:88423980G>A ENST00000297203.2 - 2 462 c.277C>T c.(277-279)Ccc>Tcc p.P93S ZNF804B_ENST00000333190.4_Intron NM_152706.3 NP_689919.1 Q8TBZ9 CG062_HUMAN chromosome 7 open reading frame 62 93 NS(1)|breast(1)|endometrium(3)|large_intestine(8)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 30 ATGGAAGTGGGATAGATGAGC 0.383000 8 112 0 0 1 0 0 SSX3 10214 broad.mit.edu 37 X 48214667 48214667 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chrX:48214667G>A ENST00000298396.2 - 2 70 c.18C>T c.(16-18)acC>acT p.T6T SSX3_ENST00000376893.3_Silent_p.T6T NM_021014.2 NP_066294.1 Q99909 SSX3_HUMAN synovial sarcoma, X breakpoint 3 6 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding endometrium(3)|large_intestine(1)|lung(9) 13 TCCTTGCAAAGGTGTCATCTC 0.522000 76 39 0 0 1 0 0 VPS13A 23230 broad.mit.edu 37 9 79959124 79959124 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:79959124G>A ENST00000360280.3 + 51 7342 c.7082G>A c.(7081-7083)aGg>aAg p.R2361K VPS13A_ENST00000357409.5_Missense_Mutation_p.R2361K|VPS13A_ENST00000376636.3_Missense_Mutation_p.R2322K|VPS13A_ENST00000376634.4_Missense_Mutation_p.R2361K NM_033305.2 NP_150648.2 Q96RL7 VP13A_HUMAN vacuolar protein sorting 13 homolog A (S. cerevisiae) 2361 Golgi to endosome transport|protein transport intracellular protein binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1) 104 CAAGTCGAAAGGAGTGAAGAT 0.303000 62 91 0 0 1 0 0 C1orf173 127254 broad.mit.edu 37 1 75038661 75038661 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:75038661C>T ENST00000326665.5 - 14 2951 c.2733G>A c.(2731-2733)ctG>ctA p.L911L C1orf173_ENST00000433746.2_5'UTR NM_001002912.4 NP_001002912.4 Q5RHP9 CA173_HUMAN chromosome 1 open reading frame 173 911 Glu-rich. NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5) 184 GCTCCAAGTTCAGGGCTGCTG 0.542000 92 207 0 0 1 0 0 NUDCD1 84955 broad.mit.edu 37 8 110308654 110308654 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:110308654C>T ENST00000239690.4 - 3 792 c.418G>A c.(418-420)Gga>Aga p.G140R NUDCD1_ENST00000427660.2_Missense_Mutation_p.G111R NM_032869.3 NP_116258.2 Q96RS6 NUDC1_HUMAN NudC domain containing 1 140 breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(2)|skin(1) 25 all_neural(195;0.219) OV - Ovarian serous cystadenocarcinoma(57;1.56e-12) TCACCTGTTCCAATGACATAC 0.413000 6 208 0 0 1 0 0 OR4A15 81328 broad.mit.edu 37 11 55135584 55135584 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:55135584G>A ENST00000314706.3 + 1 225 c.225G>A c.(223-225)gtG>gtA p.V75V NM_001005275.1 NP_001005275.1 Q8NGL6 O4A15_HUMAN olfactory receptor, family 4, subfamily A, member 15 75 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 71 TTATCATAGTGACCATCATGG 0.438000 42 116 0 0 1 0 0 MACC1 346389 broad.mit.edu 37 7 20198853 20198853 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:20198853G>A ENST00000400331.5 - 5 1439 c.1131C>T c.(1129-1131)ccC>ccT p.P377P MACC1_ENST00000332878.4_Silent_p.P377P|MACC1_ENST00000589011.1_Silent_p.P377P NM_182762.3 NP_877439.3 Q6ZN28 MACC1_HUMAN metastasis associated in colon cancer 1 377 positive regulation of cell division|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus|plasma membrane growth factor activity p.P377P(1) endometrium(1)|kidney(1)|large_intestine(15)|lung(12)|ovary(2)|prostate(1)|skin(3)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(1) 39 GGATATATTTGGGTCCATAAA 0.393000 17 53 0 0 1 0 0 USPL1 10208 broad.mit.edu 37 13 31205192 31205192 + Missense_Mutation SNP C C T rs141598959 TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr13:31205192C>T ENST00000255304.4 + 4 791 c.449C>T c.(448-450)tCg>tTg p.S150L USPL1_ENST00000465952.1_3'UTR NM_005800.4 NP_005791.3 Q5W0Q7 USPL1_HUMAN ubiquitin specific peptidase like 1 150 ubiquitin-dependent protein catabolic process ubiquitin thiolesterase activity breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(15)|pancreas(3)|skin(3) 34 Lung SC(185;0.0257)|Breast(139;0.203) all cancers(112;0.0306)|Epithelial(112;0.131)|OV - Ovarian serous cystadenocarcinoma(117;0.134) GACGAAACCTCGTCAAACTTA 0.378000 26 74 0 0 1 0 0 PCDH18 54510 broad.mit.edu 37 4 138451538 138451538 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:138451538C>T ENST00000344876.4 - 1 2091 c.1705G>A c.(1705-1707)Gaa>Aaa p.E569K PCDH18_ENST00000511115.1_Intron|PCDH18_ENST00000510305.1_Intron|PCDH18_ENST00000507846.1_Missense_Mutation_p.E349K|PCDH18_ENST00000412923.2_Missense_Mutation_p.E569K NM_019035.3 NP_061908.1 Q9HCL0 PCD18_HUMAN protocadherin 18 569 Cadherin 5. brain development|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 86 all_hematologic(180;0.24) TTGTCATTTTCGTCAATGATG 0.458000 89 146 0 0 1 0 0 OR2B11 127623 broad.mit.edu 37 1 247615282 247615282 + Translation_Start_Site SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:247615282C>T ENST00000318749.6 - 1 26 c.3G>A c.(1-3)atG>atA p.M1I NM_001004492.1 NP_001004492.1 Q5JQS5 OR2BB_HUMAN olfactory receptor, family 2, subfamily B, member 11 1 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|kidney(13)|large_intestine(7)|lung(31)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1) 60 all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.241) OV - Ovarian serous cystadenocarcinoma(106;0.0188) TGTCACTTTTCATGTTGCGGC 0.473000 31 68 0 0 1 0 0 RFT1 91869 broad.mit.edu 37 3 53133465 53133465 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:53133465G>A ENST00000607203.1 - 1 4 c.5C>T c.(4-6)tCc>tTc p.S2F RFT1_ENST00000296292.3_Silent_p.L380L|RFT1_ENST00000394738.3_Silent_p.L341L TGGCAAGCAGGAGAACATAGA 0.488000 25 62 0 0 1 0 0 EPHB1 2047 broad.mit.edu 37 3 134967345 134967345 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:134967345C>T ENST00000398015.3 + 14 3054 c.2684C>T c.(2683-2685)aCc>aTc p.T895I EPHB1_ENST00000493838.1_Missense_Mutation_p.T456I NM_004441.4 NP_004432.1 P54762 EPHB1_HUMAN EPH receptor B1 895 integral to plasma membrane ATP binding|ephrin receptor activity|protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2) 130 GCAACCATCACCGCCGTGTGA 0.527000 15 21 0 0 1 0 0 PTRF 284119 broad.mit.edu 37 17 40557335 40557335 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:40557335C>T ENST00000357037.5 - 2 962 c.543G>A c.(541-543)aaG>aaA p.K181K NM_012232.5 NP_036364.2 Q6NZI2 PTRF_HUMAN polymerase I and transcript release factor 181 regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription initiation from RNA polymerase I promoter caveola|cytosol|endoplasmic reticulum|microsome|mitochondrion|nucleoplasm protein binding|rRNA primary transcript binding breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|urinary_tract(1) 17 all_cancers(22;0.00146)|Breast(137;0.00116)|all_epithelial(22;0.0134) BRCA - Breast invasive adenocarcinoma(366;0.193) CCTCGCCCTCCTTCTCTGGCA 0.622000 94 231 0 0 1 0 0 DCD 117159 broad.mit.edu 37 12 55038497 55038497 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:55038497C>T ENST00000293371.6 - 5 522 c.333G>A c.(331-333)taG>taA p.*111* DCD_ENST00000456047.2_3'UTR NM_053283.2 NP_444513.1 P81605 DCD_HUMAN dermcidin 0 defense response to bacterium|defense response to fungus|killing of cells of other organism extracellular region protein binding large_intestine(2)|lung(2)|ovary(1)|skin(1) 6 Myeloproliferative disorder(1001;0.0255) CTCCTTACAGCTATAGTACTG 0.398000 9 42 0 0 1 0 0 BAG3 9531 broad.mit.edu 37 10 121436464 121436464 + Silent SNP T T C TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:121436464T>C ENST00000369085.3 + 4 1704 c.1398T>C c.(1396-1398)gaT>gaC p.D466D NM_004281.3 NP_004272.2 O95817 BAG3_HUMAN BCL2-associated athanogene 3 466 BAG. anti-apoptosis|apoptosis|protein folding cytosol endometrium(3)|kidney(1)|large_intestine(3)|liver(2)|lung(5)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1) 20 Lung NSC(174;0.109)|all_lung(145;0.142) all cancers(201;0.00187)|BRCA - Breast invasive adenocarcinoma(275;0.148) TGGCCCTGGATTCAGTGGACC 0.517000 25 45 0 0 1 0 0 OR51B2 79345 broad.mit.edu 37 11 5344876 5344876 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:5344876G>A ENST00000328813.2 - 1 706 c.652C>T c.(652-654)Cta>Tta p.L218L HBG2_ENST00000380252.1_Intron|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380259.2_Intron NM_033180.4 NP_149420.4 Q9Y5P1 O51B2_HUMAN olfactory receptor, family 51, subfamily B, member 2 218 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|biliary_tract(1)|central_nervous_system(1)|large_intestine(6)|lung(21)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 35 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) TTAAGAATTAGAATATAGGAG 0.378000 13 24 0 0 1 0 0 ATXN7 6314 broad.mit.edu 37 3 63981980 63981980 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:63981980C>T ENST00000398590.3 + 12 3035 c.2482C>T c.(2482-2484)Cct>Tct p.P828S ATXN7_ENST00000295900.6_Missense_Mutation_p.P828S|ATXN7_ENST00000484332.1_Missense_Mutation_p.P683S|ATXN7_ENST00000538065.1_Missense_Mutation_p.P828S|ATXN7_ENST00000487717.1_Missense_Mutation_p.P828S NM_001177387.1 NP_001170858.1 O15265 ATX7_HUMAN ataxin 7 828 Ser-rich. cell death|histone deubiquitination|nucleus organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception cytoplasm|nuclear matrix|nucleolus protein binding|zinc ion binding NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|stomach(1)|urinary_tract(3) 35 Prostate(884;0.0181) BRCA - Breast invasive adenocarcinoma(55;0.000614)|KIRC - Kidney renal clear cell carcinoma(15;0.00294)|Kidney(15;0.00305) CTCACACACTCCTCTAGACAA 0.493000 22 73 0 0 1 0 0 ROR1 4919 broad.mit.edu 37 1 64515522 64515522 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:64515522G>A ENST00000371079.1 + 3 698 c.323G>A c.(322-324)cGg>cAg p.R108Q ROR1_ENST00000371080.1_Missense_Mutation_p.R108Q|ROR1_ENST00000482426.1_3'UTR NM_005012.3 NP_005003.2 Q01973 ROR1_HUMAN receptor tyrosine kinase-like orphan receptor 1 108 Ig-like C2-type. transmembrane receptor protein tyrosine kinase signaling pathway cytoplasm|integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding breast(7)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(10)|ovary(6)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1) 51 CTCTCCTTTCGGTCCACCATC 0.562000 65 133 0 0 1 0 0 ZNF442 79973 broad.mit.edu 37 19 12462840 12462840 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:12462840G>A ENST00000242804.4 - 5 832 c.250C>T c.(250-252)Ccc>Tcc p.P84S ZNF442_ENST00000438182.1_Missense_Mutation_p.P15S NM_030824.2 NP_110451.1 Q9H7R0 ZN442_HUMAN zinc finger protein 442 84 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 31 CTCCTCCTGGGATTTCTGTGC 0.353000 26 82 0 0 1 0 0 TSNARE1 203062 broad.mit.edu 37 8 143425425 143425425 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:143425425G>A ENST00000524325.1 - 4 822 c.647C>T c.(646-648)cCc>cTc p.P216L TSNARE1_ENST00000519651.1_Intron|TSNARE1_ENST00000520166.1_Missense_Mutation_p.P216L|TSNARE1_ENST00000307180.3_Missense_Mutation_p.P216L Q96NA8 TSNA1_HUMAN t-SNARE domain containing 1 216 vesicle-mediated transport integral to membrane breast(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(6)|ovary(2)|stomach(2)|urinary_tract(1) 20 all_cancers(97;7.39e-11)|all_epithelial(106;8.98e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000332)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155) CAGGGCCTGGGGCTTGCCGGA 0.701000 8 73 0 0 1 0 0 CCDC50 152137 broad.mit.edu 37 3 191092902 191092902 + Missense_Mutation SNP C C A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:191092902C>A ENST00000392456.3 + 6 1090 c.500C>A c.(499-501)cCt>cAt p.P167H CCDC50_ENST00000392455.3_Intron NM_178335.2 NP_848018.1 Q8IVM0 CCD50_HUMAN coiled-coil domain containing 50 163 cytoplasm protein binding endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|stomach(1) 23 all_cancers(143;8.88e-09)|Ovarian(172;0.103)|Breast(254;0.221) LUSC - Lung squamous cell carcinoma(58;2.42e-06)|Lung(62;2.86e-06) GBM - Glioblastoma multiforme(46;0.000136) TTCTCAAGACCTTGTAGACTC 0.443000 18 52 0.00074312 0.000744954 1 1 0 MUC16 94025 broad.mit.edu 37 19 9057851 9057851 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:9057851C>T ENST00000397910.4 - 3 29798 c.29595G>A c.(29593-29595)agG>agA p.R9865R NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 9867 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 TCGGAATCCTCCTAGTCTCAG 0.473000 39 105 0 0 1 0 0 LRP1B 53353 broad.mit.edu 37 2 141055395 141055395 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:141055395C>T ENST00000389484.3 - 84 13920 c.12949G>A c.(12949-12951)Gga>Aga p.G4317R NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 4317 EGF-like 12. protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding p.G4317*(1) NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) CATCTGTCTCCGGTGTATTCC 0.453000 TSP Lung(27;0.18) 104 235 0 0 1 0 0 AGBL2 79841 broad.mit.edu 37 11 47712018 47712018 + Missense_Mutation SNP G G A rs149946635 TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:47712018G>A ENST00000525123.1 - 10 1526 c.1241C>T c.(1240-1242)cCt>cTt p.P414L AGBL2_ENST00000528244.1_Missense_Mutation_p.P376L|AGBL2_ENST00000529712.1_5'UTR|AGBL2_ENST00000357610.3_Missense_Mutation_p.P414L|AGBL2_ENST00000298861.4_Missense_Mutation_p.P414L NM_024783.3 NP_079059.2 Q5U5Z8 CBPC2_HUMAN ATP/GTP binding protein-like 2 414 proteolysis cytosol metallocarboxypeptidase activity|zinc ion binding NS(1)|endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1) 34 AGACTGGATAGGGTTGTTTGC 0.463000 46 94 0 0 1 0 0 TUBGCP2 10844 broad.mit.edu 37 10 135107097 135107097 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:135107097G>A ENST00000368563.2 - 6 1149 c.793C>T c.(793-795)Cca>Tca p.P265S TUBGCP2_ENST00000417178.2_Missense_Mutation_p.P135S|TUBGCP2_ENST00000543663.1_Missense_Mutation_p.P293S|TUBGCP2_ENST00000252936.3_Missense_Mutation_p.P265S NM_001256617.1|NM_006659.3 NP_001243546.1|NP_006650.1 Q9BSJ2 GCP2_HUMAN tubulin, gamma complex associated protein 2 265 G2/M transition of mitotic cell cycle|microtubule nucleation|protein complex assembly centrosome|cytoplasmic microtubule|cytosol|spindle pole protein binding breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1) 35 all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;8.87e-06)|all cancers(32;8.98e-06)|Epithelial(32;1.15e-05) GCGGCCACTGGGAGGATCCTG 0.672000 6 5 0 0 1 0 0 RNF152 220441 broad.mit.edu 37 18 59483565 59483565 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr18:59483565G>A ENST00000312828.3 - 2 1231 c.132C>T c.(130-132)acC>acT p.T44T NM_173557.2 NP_775828.1 Q8N8N0 RN152_HUMAN ring finger protein 152 44 apoptosis|protein K48-linked ubiquitination integral to membrane|lysosomal membrane ubiquitin-protein ligase activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(10)|skin(1) 17 Colorectal(73;0.186) CCTTCTGGCTGGTCCTCATCT 0.627000 34 54 0 0 1 0 0 WDR88 126248 broad.mit.edu 37 19 33647326 33647326 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:33647326C>T ENST00000361680.2 + 7 953 c.875C>T c.(874-876)tCc>tTc p.S292F WDR88_ENST00000355868.3_Missense_Mutation_p.S292F Q6ZMY6 WDR88_HUMAN WD repeat domain 88 292 breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1) 25 Esophageal squamous(110;0.137) TGTACAAGCTCCTGGGATAAA 0.478000 12 156 0 0 1 0 0 OXA1L 5018 broad.mit.edu 37 14 23235899 23235899 + Missense_Mutation SNP C C A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr14:23235899C>A ENST00000285848.5 + 1 169 c.169C>A c.(169-171)Ctt>Att p.L57I OXA1L_ENST00000604262.1_5'UTR NM_005015.3 NP_005006.3 Q15070 OXA1L_HUMAN oxidase (cytochrome c) assembly 1-like 0 aerobic respiration|mitochondrial proton-transporting ATP synthase complex assembly|mitochondrial respiratory chain complex I assembly|negative regulation of ATPase activity|negative regulation of oxidoreductase activity|protein insertion into membrane|protein tetramerization integral to mitochondrial membrane|mitochondrial respiratory chain|protein complex protein homodimerization activity|ribosome binding central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(5)|skin(2) 19 all_cancers(95;8.44e-05) GBM - Glioblastoma multiforme(265;0.0096) AGCAAGTCCTCTTCCGGGCAA 0.607000 7 241 5.18039e-06 5.19893e-06 1 1 0 MED14 9282 broad.mit.edu 37 X 40539331 40539331 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chrX:40539331G>A ENST00000324817.1 - 21 2783 c.2665C>T c.(2665-2667)Ccg>Tcg p.P889S MED14_ENST00000496531.1_Intron NM_004229.3 NP_004220.2 O60244 MED14_HUMAN mediator complex subunit 14 889 androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding NS(2)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 CCCAACATCGGCACAGTGGGG 0.483000 21 29 0 0 1 0 0 COL5A1 1289 broad.mit.edu 37 9 137593140 137593140 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:137593140C>T ENST00000371817.3 + 4 1029 c.615C>T c.(613-615)atC>atT p.I205I COL5A1_ENST00000464187.1_3'UTR NM_000093.3|NM_001278074.1 NP_000084.3|NP_001265003.1 P20908 CO5A1_HUMAN collagen, type V, alpha 1 205 Laminin G-like.|TSP N-terminal. axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells collagen type V heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 115 Myeloproliferative disorder(178;0.0341) all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131) ATGGCATCATCGTGTTTGGCA 0.552000 19 29 0 0 1 0 0 KPNA5 3841 broad.mit.edu 37 6 117037464 117037464 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:117037464C>T ENST00000368564.1 + 8 887 c.739C>T c.(739-741)Cct>Tct p.P247S KPNA5_ENST00000356348.1_Missense_Mutation_p.P247S O15131 IMA5_HUMAN karyopherin alpha 5 (importin alpha 6) 244 NLS-bearing substrate import into nucleus cytoplasm|nuclear pore protein binding|protein transporter activity breast(6)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234) GBM - Glioblastoma multiforme(226;0.0298)|all cancers(137;0.0461)|OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.212) CAAAAACCCTCCTCCAAACTT 0.318000 18 46 0 0 1 0 0 PNMA3 29944 broad.mit.edu 37 X 152226197 152226197 + Missense_Mutation SNP A A T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chrX:152226197A>T ENST00000447306.1 + 2 1121 c.785A>T c.(784-786)gAg>gTg p.E262V PNMA3_ENST00000370265.4_Missense_Mutation_p.E262V|PNMA3_ENST00000370264.4_Missense_Mutation_p.E262V NM_013364.4 NP_037496.3 Q9UL41 PNMA3_HUMAN paraneoplastic Ma antigen 3 262 apoptosis nucleolus nucleic acid binding|zinc ion binding endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2) 16 Acute lymphoblastic leukemia(192;6.56e-05) gaggcaggagagaaagtatct 0.493000 62 72 0 0 1 0 0 APC 324 broad.mit.edu 37 5 112174521 112174521 + Missense_Mutation SNP T T A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:112174521T>A ENST00000457016.1 + 16 3610 c.3230T>A c.(3229-3231)gTt>gAt p.V1077D APC_ENST00000257430.4_Missense_Mutation_p.V1077D|CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000508376.2_Missense_Mutation_p.V1077D P25054 APC_HUMAN adenomatous polyposis coli 1077 Responsible for down-regulation through a process mediated by direct ubiquitination.|Ser-rich. canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity p.?(1) NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20) 3261 all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133) OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191) ACTTATCCTGTTTATACTGAG 0.398000 12 """D, Mis, N, F, S""" """colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS""" """colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS""" Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis TSP Lung(16;0.13) 4 62 0 0 1 0 0 PIK3AP1 118788 broad.mit.edu 37 10 98405304 98405304 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:98405304G>A ENST00000339364.5 - 8 1420 c.1301C>T c.(1300-1302)tCg>tTg p.S434L PIK3AP1_ENST00000371110.2_Missense_Mutation_p.S256L|PIK3AP1_ENST00000468783.1_5'UTR NM_152309.2 NP_689522.2 Q6ZUJ8 BCAP_HUMAN phosphoinositide-3-kinase adaptor protein 1 434 cytoplasm|plasma membrane NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(27)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4) 52 Colorectal(252;0.0442) Epithelial(162;6.29e-08)|all cancers(201;3.18e-06) GGGGTTGAGCGAGCATTTCAT 0.532000 29 70 0 0 1 0 0 OR4C12 283093 broad.mit.edu 37 11 50003193 50003193 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:50003193G>A ENST00000335238.4 - 1 878 c.845C>T c.(844-846)cCc>cTc p.P282L NM_001005270.2 NP_001005270.1 Q96R67 OR4CC_HUMAN olfactory receptor, family 4, subfamily C, member 12 282 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|kidney(4)|large_intestine(3)|liver(1)|lung(19)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 36 GTAGACCACGGGATTTAACAT 0.393000 19 49 0 0 1 0 0 DNAJC5B 85479 broad.mit.edu 37 8 67012262 67012262 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:67012262C>T ENST00000276570.5 + 6 883 c.596C>T c.(595-597)tCt>tTt p.S199F DNAJC5B_ENST00000519330.1_3'UTR NM_033105.4 NP_149096.2 Q9UF47 DNJ5B_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 5 beta 199 protein folding membrane heat shock protein binding|unfolded protein binding endometrium(3)|large_intestine(6)|liver(1)|lung(6)|prostate(1)|skin(3) 20 Lung NSC(129;0.114)|all_lung(136;0.188) Epithelial(68;0.0213)|all cancers(69;0.0839)|BRCA - Breast invasive adenocarcinoma(89;0.0886)|OV - Ovarian serous cystadenocarcinoma(28;0.112) TGCACAGACTCTTGATATTGA 0.448000 20 36 0 0 1 0 0 DDX60L 91351 broad.mit.edu 37 4 169300626 169300626 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:169300626C>T ENST00000511577.1 - 32 4498 c.4251G>A c.(4249-4251)aaG>aaA p.K1417K DDX60L_ENST00000260184.7_Silent_p.K1417K Q5H9U9 DDX6L_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like 1417 ATP binding|ATP-dependent helicase activity|RNA binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1) 43 Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132) GBM - Glioblastoma multiforme(119;0.175) CTGCAAATTTCTTTGGATTAC 0.318000 11 20 0 0 1 0 0 OBSCN 84033 broad.mit.edu 37 1 228491522 228491522 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:228491522C>T ENST00000570156.2 + 52 13959 c.13885C>T c.(13885-13887)Ctg>Ttg p.L4629L OBSCN_ENST00000284548.11_Intron|OBSCN_ENST00000366707.4_Silent_p.L1319L|OBSCN_ENST00000422127.1_Intron|OBSCN_ENST00000366709.4_Intron|OBSCN_ENST00000359599.6_3'UTR NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 3672 Ig-like 47. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) CAGATATAGCCTGAGGCAGGA 0.617000 53 147 0 0 1 0 0 KIAA1958 158405 broad.mit.edu 37 9 115421986 115421986 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:115421986C>T ENST00000337530.6 + 4 2084 c.1788C>T c.(1786-1788)gcC>gcT p.A596A KIAA1958_ENST00000536272.1_Silent_p.A624A NM_133465.2 NP_597722.1 Q8N8K9 K1958_HUMAN KIAA1958 596 endometrium(1)|large_intestine(9)|lung(10)|prostate(2)|skin(3) 25 CCTACTTTGCCCGGACGGACA 0.582000 17 65 0 0 1 0 0 NLRP1 22861 broad.mit.edu 37 17 5487140 5487140 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:5487140C>T ENST00000345221.3 - 1 692 c.138G>A c.(136-138)gaG>gaA p.E46E NLRP1_ENST00000262467.5_Silent_p.E46E|NLRP1_ENST00000269280.4_Silent_p.E46E|NLRP1_ENST00000354411.3_Silent_p.E46E|NLRP1_ENST00000571307.1_5'UTR|NLRP1_ENST00000577119.1_Silent_p.E46E|NLRP1_ENST00000572272.1_Silent_p.E46E NM_014922.4|NM_033004.3|NM_033007.3 NP_055737.1|NP_127497.1|NP_127500.1 Q9C000 NALP1_HUMAN NLR family, pyrin domain containing 1 46 DAPIN. defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide cytoplasm|NALP1 inflammasome complex|nucleus ATP binding|caspase activator activity|enzyme binding|protein domain specific binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 65 Colorectal(1115;3.48e-05) CACTCGTCTTCTCTGGCTGAG 0.607000 5 6 0 0 1 0 0 LRP1 4035 broad.mit.edu 37 12 57574942 57574942 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:57574942C>T ENST00000243077.3 + 34 5996 c.5530C>T c.(5530-5532)Cat>Tat p.H1844Y NM_002332.2 NP_002323.2 Q07954 LRP1_HUMAN low density lipoprotein receptor-related protein 1 1844 aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity coated pit|integral to plasma membrane|nucleus apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 184 BRCA - Breast invasive adenocarcinoma(357;0.0103) Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031) GCCCCCAGACCATAAGGGCAC 0.622000 48 91 0 0 1 0 0 SVEP1 79987 broad.mit.edu 37 9 113170717 113170717 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:113170717G>A ENST00000401783.2 - 38 7499 c.7163C>T c.(7162-7164)tCc>tTc p.S2388F SVEP1_ENST00000374469.1_Missense_Mutation_p.S2365F|SVEP1_ENST00000297826.5_Missense_Mutation_p.S314F NM_153366.3 NP_699197.3 Q4LDE5 SVEP1_HUMAN sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 2388 Sushi 17. cell adhesion cytoplasm|extracellular region|membrane calcium ion binding NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4) 147 GACACCAAAGGAAATTAGGGG 0.458000 18 52 0 0 1 0 0 INTS2 57508 broad.mit.edu 37 17 59949656 59949656 + Silent SNP T T C TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:59949656T>C ENST00000444766.3 - 20 2847 c.2772A>G c.(2770-2772)gaA>gaG p.E924E INTS2_ENST00000251334.6_Silent_p.E916E NM_020748.2 NP_065799.1 Q9H0H0 INT2_HUMAN integrator complex subunit 2 924 snRNA processing integral to membrane|integrator complex|nuclear membrane protein binding NS(1)|breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 38 TTTTCAATTCTTCCCTGGTAA 0.383000 5 80 0 0 1 0 0 TBC1D3P5 440419 broad.mit.edu 37 17 25748050 25748050 + RNA SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:25748050C>T ENST00000586223.1 + 0 437 NR_033892.1 CAGAGCCAGTCCTTTCTGGGG 0.607000 4 6 0 0 1 0 0 LIMCH1 22998 broad.mit.edu 37 4 41691574 41691574 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:41691574C>T ENST00000313860.7 + 25 3099 c.3045C>T c.(3043-3045)tcC>tcT p.S1015S LIMCH1_ENST00000503057.1_Silent_p.S1399S|LIMCH1_ENST00000396595.3_Silent_p.S834S|LIMCH1_ENST00000509277.1_Silent_p.S848S|LIMCH1_ENST00000514096.1_Silent_p.S829S|LIMCH1_ENST00000512946.1_Silent_p.S989S|LIMCH1_ENST00000512632.1_Silent_p.S912S|LIMCH1_ENST00000381753.4_Silent_p.S822S|RP11-227F19.5_ENST00000506475.1_RNA|LIMCH1_ENST00000511496.1_Silent_p.S829S|LIMCH1_ENST00000513024.1_Silent_p.S842S|LIMCH1_ENST00000508501.1_Silent_p.S988S|LIMCH1_ENST00000512820.1_Silent_p.S1001S NM_014988.2 NP_055803.2 Q9UPQ0 LIMC1_HUMAN LIM and calponin homology domains 1 1015 LIM zinc-binding. actomyosin structure organization actin binding|zinc ion binding central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5) 41 TGTGCTCTTCCTGTGGGCTTC 0.398000 5 103 0 0 1 0 0 SPANXC 64663 broad.mit.edu 37 X 140335801 140335801 + Missense_Mutation SNP G G A rs142265470 TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chrX:140335801G>A ENST00000358993.2 - 2 181 c.143C>T c.(142-144)tCg>tTg p.S48L NM_022661.2 NP_073152.1 Q9NY87 SPNXC_HUMAN SPANX family, member C 48 cytoplasm|nucleus large_intestine(2)|lung(3)|pancreas(1) 6 Acute lymphoblastic leukemia(192;7.65e-05) TAGTATGGTCGAGGACTCAGA 0.517000 24 118 0 0 1 0 0 DBH 1621 broad.mit.edu 37 9 136501809 136501809 + Missense_Mutation SNP G G A rs148244950 TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:136501809G>A ENST00000393056.2 + 1 328 c.316G>A c.(316-318)Gat>Aat p.D106N NM_000787.3 NP_000778.3 P09172 DOPO_HUMAN dopamine beta-hydroxylase (dopamine beta-monooxygenase) 106 DOMON. hormone biosynthetic process chromaffin granule lumen|chromaffin granule membrane|extracellular region|integral to membrane|membrane fraction|soluble fraction|transport vesicle membrane dopamine beta-monooxygenase activity|L-ascorbic acid binding central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2) 36 OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05) Dopamine(DB00988)|Vitamin C(DB00126) GCTCTGGACCGATGGGGACAC 0.612000 24 36 0 0 1 0 0 MFSD6L 162387 broad.mit.edu 37 17 8701692 8701692 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:8701692G>A ENST00000329805.4 - 1 975 c.747C>T c.(745-747)tcC>tcT p.S249S NM_152599.3 NP_689812.3 Q8IWD5 MFS6L_HUMAN major facilitator superfamily domain containing 6-like 249 integral to membrane central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(7)|skin(4) 17 CGGACCCCAAGGAGAGGATAA 0.582000 20 160 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9059924 9059924 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:9059924C>T ENST00000397910.4 - 3 27725 c.27522G>A c.(27520-27522)gtG>gtA p.V9174V NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 9176 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 GAAGTGATGTCACAGGAAGCG 0.517000 22 64 0 0 1 0 0 LRP2 4036 broad.mit.edu 37 2 170177374 170177374 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:170177374G>A ENST00000263816.3 - 2 385 c.100C>T c.(100-102)Cgc>Tgc p.R34C LRP2_ENST00000443831.1_Missense_Mutation_p.R34C NM_004525.2 NP_004516.2 P98164 LRP2_HUMAN low density lipoprotein receptor-related protein 2 34 LDL-receptor class A 1. hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process coated pit|integral to membrane|lysosome calcium ion binding|receptor activity|SH3 domain binding biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13) 315 STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101) Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013) CTTCCACAGCGAAAATGCGCA 0.413000 43 102 0 0 1 0 0 KALRN 8997 broad.mit.edu 37 3 124351353 124351353 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:124351353C>T ENST00000360013.3 + 35 5390 c.5263C>T c.(5263-5265)Cac>Tac p.H1755Y KALRN_ENST00000428018.2_Missense_Mutation_p.H58Y|KALRN_ENST00000393496.1_Missense_Mutation_p.H128Y|KALRN_ENST00000291478.4_Missense_Mutation_p.H58Y NM_001024660.3 NP_001019831.2 O60229 KALRN_HUMAN kalirin, RhoGEF kinase 1755 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport actin cytoskeleton|cytosol ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 83 GAACTCCATCCACAGTTCCCC 0.567000 39 73 0 0 1 0 0 MYH13 8735 broad.mit.edu 37 17 10227460 10227460 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:10227460G>A ENST00000418404.3 - 22 2976 c.2813C>T c.(2812-2814)tCt>tTt p.S938F MYH13_ENST00000252172.4_Missense_Mutation_p.S938F|MYH13_ENST00000570743.1_Missense_Mutation_p.S938F|RP11-401O9.3_ENST00000577743.1_RNA Q9UKX3 MYH13_HUMAN myosin, heavy chain 13, skeletal muscle 938 muscle contraction muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|microfilament motor activity breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2) 108 AACCAATTCAGAATTCATCTC 0.458000 33 76 0 0 1 0 0 SP140 11262 broad.mit.edu 37 2 231177390 231177390 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:231177390G>A ENST00000392045.3 + 27 2709 c.2595G>A c.(2593-2595)ggG>ggA p.G865G SP140_ENST00000343805.6_Silent_p.G805G|SP140_ENST00000350136.5_Silent_p.G734G|SP140_ENST00000420434.3_Silent_p.G838G|SP140_ENST00000486687.2_Intron|SP140_ENST00000417495.3_Silent_p.G751G NM_007237.4 NP_009168.4 Q13342 LY10_HUMAN SP140 nuclear body protein 865 defense response cytoplasm|nuclear envelope|nucleolus|nucleoplasm DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1) 12 Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167) Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942) AAACAAATGGGAACAATTGAC 0.413000 40 62 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9089257 9089257 + Missense_Mutation SNP G G C TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:9089257G>C ENST00000397910.4 - 1 2761 c.2558C>G c.(2557-2559)tCt>tGt p.S853C NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 853 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 GGAAGGAGTAGATGAAGAAAA 0.458000 37 75 0 0 1 0 0 HYKK 123688 broad.mit.edu 37 15 78825912 78825912 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr15:78825912G>A ENST00000388988.4 + 5 1135 c.1022G>A c.(1021-1023)gGg>gAg p.G341E HYKK_ENST00000569878.1_Missense_Mutation_p.G341E|HYKK_ENST00000563233.1_Intron|HYKK_ENST00000408962.2_Intron NM_001013619.2 NP_001013641.2 hydroxylysine kinase GCAAAAACCGGGTGGAAACAC 0.428000 43 98 0 0 1 0 0 KMT2C 58508 broad.mit.edu 37 7 151859403 151859403 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:151859403G>A ENST00000355193.2 - 43 11477 c.11259C>T c.(11257-11259)gtC>gtT p.V3753V KMT2C_ENST00000262189.6_Silent_p.V3753V lysine (K)-specific methyltransferase 2C GTGCTGAGGAGACAGGACAGG 0.498000 29 168 0 0 1 0 0 SV2B 9899 broad.mit.edu 37 15 91803625 91803625 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr15:91803625G>A ENST00000394232.1 + 6 1464 c.994G>A c.(994-996)Gag>Aag p.E332K SV2B_ENST00000545111.2_Missense_Mutation_p.E181K|SV2B_ENST00000330276.4_Missense_Mutation_p.E332K NM_014848.4 NP_055663.1 Q7L1I2 SV2B_HUMAN synaptic vesicle glycoprotein 2B 332 neurotransmitter transport acrosomal vesicle|cell junction|integral to membrane|synaptic vesicle membrane transmembrane transporter activity NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(17)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 42 Lung NSC(78;0.0987)|all_lung(78;0.172) BRCA - Breast invasive adenocarcinoma(143;0.0895) GGGGACCCCAGAGAAAGTGTT 0.458000 35 94 0 0 1 0 0 HECW2 57520 broad.mit.edu 37 2 197183998 197183998 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:197183998C>T ENST00000260983.2 - 9 1798 c.1616G>A c.(1615-1617)aGc>aAc p.S539N HECW2_ENST00000409111.1_Missense_Mutation_p.S183N NM_020760.1 NP_065811.1 Q9P2P5 HECW2_HUMAN HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 539 protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm ubiquitin-protein ligase activity biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2) 113 AGGTAAGGAGCTCTCTGCAAG 0.562000 35 72 0 0 1 0 0 TAF1L 138474 broad.mit.edu 37 9 32633189 32633189 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:32633189C>T ENST00000242310.4 - 1 2478 c.2389G>A c.(2389-2391)Gat>Aat p.D797N NM_153809.2 NP_722516.1 Q8IZX4 TAF1L_HUMAN TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like 797 male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent transcription factor TFIID complex DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1) 159 LUSC - Lung squamous cell carcinoma(29;0.0181) GBM - Glioblastoma multiforme(74;0.00301) ACAAAAATATCCACTAATTCC 0.418000 65 61 0 0 1 0 0 ISX 91464 broad.mit.edu 37 22 35478510 35478510 + Splice_Site SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr22:35478510G>A ENST00000308700.6 + 2 1181 c.e2-1 ISX_ENST00000404699.2_Splice_Site NM_001008494.1 NP_001008494.1 Q2M1V0 ISX_HUMAN intestine-specific homeobox nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(12)|ovary(3)|prostate(1)|skin(4) 26 CTCCCATGCAGAAGGAAGGAA 0.552000 33 121 0 0 1 0 0 NHLRC2 374354 broad.mit.edu 37 10 115639336 115639336 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:115639336C>T ENST00000369301.3 + 4 1003 c.791C>T c.(790-792)cCc>cTc p.P264L NM_198514.3 NP_940916.2 Q8NBF2 NHLC2_HUMAN NHL repeat containing 2 264 cell redox homeostasis breast(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1) 15 Epithelial(162;0.017)|all cancers(201;0.0187) ATTTTAGGACCCAACCCTGGA 0.308000 5 60 0 0 1 0 0 SDK1 221935 broad.mit.edu 37 7 4277385 4277385 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:4277385G>A ENST00000404826.2 + 42 6238 c.6099G>A c.(6097-6099)ggG>ggA p.G2033G SDK1_ENST00000389531.3_Silent_p.G2013G|SDK1_ENST00000466611.1_3'UTR NM_152744.3 NP_689957.3 Q7Z5N4 SDK1_HUMAN sidekick cell adhesion molecule 1 2033 cell adhesion integral to membrane NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4) 153 all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194) UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15) TCCTGCACGGGCAGAATAAGA 0.572000 36 76 0 0 1 0 0 HPSE 10855 broad.mit.edu 37 4 84240540 84240540 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:84240540G>A ENST00000405413.2 - 4 592 c.456C>T c.(454-456)ctC>ctT p.L152L HPSE_ENST00000311412.5_Silent_p.L152L|HPSE_ENST00000513463.1_Silent_p.L152L|HPSE_ENST00000512196.1_Silent_p.L152L NM_006665.5 NP_006656.2 Q9Y251 HPSE_HUMAN heparanase 152 carbohydrate metabolic process|cell adhesion|proteoglycan metabolic process extracellular region|lysosomal membrane|nucleus beta-glucuronidase activity|cation binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2) 20 Hepatocellular(203;0.114) COAD - Colon adenocarcinoma(81;0.141) Heparin(DB01109) AGTGTTCTCGGAGTAGCAATT 0.443000 5 176 0 0 1 0 0 DNM1P47 100216544 broad.mit.edu 37 15 102304883 102304883 + RNA SNP C C G TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr15:102304883C>G ENST00000561463.1 + 0 12929 CGCGTGGGAACGAGAAGACAC 0.562000 3 31 0 0 1 0 0 HIST1H2BA 255626 broad.mit.edu 37 6 25727328 25727328 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:25727328G>A ENST00000274764.2 + 1 192 c.192G>A c.(190-192)atG>atA p.M64I NM_170610.2 NP_733759.1 Q96A08 H2B1A_HUMAN histone cluster 1, H2ba 64 nucleosome assembly nucleosome|nucleus DNA binding breast(1)|kidney(1) 2 TGAGCATTATGAATTCCTTCG 0.463000 48 123 0 0 1 0 0 TIAM1 7074 broad.mit.edu 37 21 32617854 32617854 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr21:32617854C>T ENST00000286827.3 - 7 2005 c.1534G>A c.(1534-1536)Gac>Aac p.D512N TIAM1_ENST00000541036.1_Missense_Mutation_p.D512N|TIAM1_ENST00000469412.1_5'UTR NM_003253.2 NP_003244.2 Q13009 TIAM1_HUMAN T-cell lymphoma invasion and metastasis 1 512 PH 1. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cell-cell junction|cytosol receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2) 115 AAGACAAAGTCCTTCTTGGGG 0.547000 18 55 0 0 1 0 0 TMPPE 643853 broad.mit.edu 37 3 33134869 33134869 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:33134869G>A ENST00000342462.4 - 2 1009 c.819C>T c.(817-819)ttC>ttT p.F273F GLB1_ENST00000307377.8_Intron|GLB1_ENST00000307363.5_Intron|GLB1_ENST00000445488.2_Intron|TMPPE_ENST00000416695.2_Silent_p.F136F|GLB1_ENST00000399402.3_Intron NM_001039770.2 NP_001034859.2 Q6ZT21 TMPPE_HUMAN transmembrane protein with metallophosphoesterase domain 273 integral to membrane metal ion binding breast(1)|large_intestine(5)|lung(6)|prostate(1) 13 TGCCTGTGACGAAGTAGGCAC 0.537000 36 70 0 0 1 0 0 SNHG14 104472715 broad.mit.edu 37 15 25325372 25325372 + RNA SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr15:25325372C>T ENST00000549804.2 + 0 1377 SNORD116-14_ENST00000383894.1_RNA TCTCGTCGAACTGAGGTCCAG 0.463000 7 247 0 0 1 0 0 TRIM51HP 440041 broad.mit.edu 37 11 55065601 55065601 + RNA SNP C C G rs4100282 TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:55065601C>G ENST00000526016.1 - 0 107 NR_038174.2 CACTGAGCAACAACTGCCATG 0.488000 21 53 0 0 1 0 0 PTCHD3 374308 broad.mit.edu 37 10 27702119 27702119 + Missense_Mutation SNP T T C TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:27702119T>C ENST00000438700.3 - 1 1178 c.1061A>G c.(1060-1062)aAg>aGg p.K354R NM_001034842.3 NP_001030014.2 Q3KNS1 PTHD3_HUMAN patched domain containing 3 354 spermatid development integral to membrane hedgehog receptor activity NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3) 55 CAAGATGTTCTTAATGTTGGT 0.517000 166 314 0 0 1 0 0 PDE8B 8622 broad.mit.edu 37 5 76621496 76621496 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:76621496G>A ENST00000264917.5 + 3 577 c.532G>A c.(532-534)Gaa>Aaa p.E178K PDE8B_ENST00000346042.3_Missense_Mutation_p.E178K|PDE8B_ENST00000342343.4_Missense_Mutation_p.E158K|PDE8B_ENST00000333194.4_Missense_Mutation_p.E178K|PDE8B_ENST00000340978.3_Missense_Mutation_p.E178K NM_003719.3 NP_003710.1 O95263 PDE8B_HUMAN phosphodiesterase 8B 178 cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent cytosol 3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity GMDS/PDE8B(2) NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(15)|ovary(1)|prostate(2)|skin(3) 40 all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605) OV - Ovarian serous cystadenocarcinoma(54;2.21e-49)|Epithelial(54;5.82e-43)|all cancers(79;4.06e-38) TAAGCATCATGAAATTATTGT 0.413000 48 82 0 0 1 0 0 MLXIPL 51085 broad.mit.edu 37 7 73011005 73011005 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:73011005G>A ENST00000313375.3 - 11 1833 c.1786C>T c.(1786-1788)Ccc>Tcc p.P596S MLXIPL_ENST00000434326.1_Missense_Mutation_p.P502S|MLXIPL_ENST00000429400.2_Missense_Mutation_p.P596S|MLXIPL_ENST00000414749.2_Missense_Mutation_p.P596S|MLXIPL_ENST00000395189.1_Missense_Mutation_p.P503S|MLXIPL_ENST00000354613.1_Missense_Mutation_p.P596S NM_032951.2|NM_032953.2 NP_116569.1|NP_116571.1 Q9NP71 WBS14_HUMAN MLX interacting protein-like 596 anatomical structure morphogenesis|energy reserve metabolic process|glucose mediated signaling pathway|intracellular protein kinase cascade|negative regulation of cell cycle arrest|negative regulation of oxidative phosphorylation|negative regulation of peptidyl-serine phosphorylation|positive regulation of cell proliferation|positive regulation of fatty acid biosynthetic process|positive regulation of glycolysis|positive regulation of transcription from RNA polymerase II promoter|triglyceride homeostasis cytosol|transcription factor complex carbohydrate response element binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding cervix(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 13 Lung NSC(55;0.0659)|all_lung(88;0.152) TCCGCTTTGGGGACAAGCAGG 0.657000 12 23 0 0 1 0 0 DRD3 1814 broad.mit.edu 37 3 113850015 113850015 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:113850015C>T ENST00000383673.2 - 6 1386 c.956G>A c.(955-957)gGa>gAa p.G319E DRD3_ENST00000295881.7_Intron|DRD3_ENST00000467632.1_Missense_Mutation_p.G319E|DRD3_ENST00000460779.1_Missense_Mutation_p.G319E NM_000796.3 NP_000787.2 P35462 DRD3_HUMAN dopamine receptor D3 319 activation of adenylate cyclase activity by dopamine receptor signaling pathway|arachidonic acid secretion|behavioral response to cocaine|cellular calcium ion homeostasis|circadian regulation of gene expression|G-protein coupled receptor internalization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|locomotory behavior|musculoskeletal movement, spinal reflex action|negative regulation of blood pressure|negative regulation of oligodendrocyte differentiation|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|positive regulation of dopamine receptor signaling pathway|positive regulation of mitosis|prepulse inhibition|regulation of dopamine secretion|response to drug|response to histamine|response to morphine|social behavior|visual learning integral to plasma membrane dopamine D3 receptor activity|drug binding central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|pancreas(1)|skin(1) 36 Apomorphine(DB00714)|Chlorprothixene(DB01239)|Cocaine(DB00907)|Methotrimeprazine(DB01403)|Olanzapine(DB00334)|Pramipexole(DB00413)|Ropinirole(DB00268)|Ziprasidone(DB00246) AAGTGGCACTCCCCGAGGTTG 0.522000 56 105 0 0 1 0 0 SLA2 84174 broad.mit.edu 37 20 35242356 35242356 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr20:35242356C>T ENST00000262866.4 - 8 1121 c.699G>A c.(697-699)gaG>gaA p.E233E SLA2_ENST00000360672.2_3'UTR NM_032214.3|NM_175077.2 NP_115590.1|NP_778252.1 Q9H6Q3 SLAP2_HUMAN Src-like-adaptor 2 233 SLA C-terminal. antigen receptor-mediated signaling pathway|B cell mediated immunity|intracellular receptor mediated signaling pathway|negative regulation of B cell activation|negative regulation of calcium-mediated signaling|negative regulation of transcription from RNA polymerase II promoter|T cell activation cytoplasmic membrane-bounded vesicle|endosome membrane|plasma membrane protein N-terminus binding|SH3/SH2 adaptor activity endometrium(1)|lung(2)|skin(2) 5 Breast(12;0.114) Myeloproliferative disorder(115;0.00878) GAAGAGACTCCTCCCCTGTGG 0.527000 29 69 0 0 1 0 0 COL2A1 1280 broad.mit.edu 37 12 48380879 48380879 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:48380879C>T ENST00000380518.3 - 21 1511 c.1347G>A c.(1345-1347)ctG>ctA p.L449L COL2A1_ENST00000337299.6_Silent_p.L380L|COL2A1_ENST00000493991.1_5'UTR NM_001844.4|NM_033150.2 NP_001835.3|NP_149162.2 P02458 CO2A1_HUMAN collagen, type II, alpha 1 449 Triple-helical region. axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception collagen type II identical protein binding|platelet-derived growth factor binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3) 64 Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214) Collagenase(DB00048) CTTTCGGGCCCAGAGGACCAG 0.612000 46 108 0 0 1 0 0 MYBPC3 4607 broad.mit.edu 37 11 47356670 47356670 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:47356670C>T ENST00000399249.2 - 26 2882 c.2828G>A c.(2827-2829)cGa>cAa p.R943Q MYBPC3_ENST00000256993.4_Missense_Mutation_p.R942Q|MYBPC3_ENST00000545968.1_Missense_Mutation_p.R943Q Q14896 MYPC3_HUMAN myosin binding protein C, cardiac 942 Fibronectin type-III 2. cardiac muscle contraction|cell adhesion|muscle filament sliding|regulation of muscle filament sliding|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis C zone|cytosol|striated muscle myosin thick filament actin binding|ATPase activator activity|metal ion binding|myosin heavy chain binding|structural constituent of muscle|titin binding breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(3)|urinary_tract(2) 42 Lung(87;0.176) TGCCCGCACTCGGAAAAGCAG 0.647000 19 47 0 0 1 0 0 APBA2 321 broad.mit.edu 37 15 29346829 29346829 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr15:29346829G>A ENST00000558402.1 + 5 1341 c.742G>A c.(742-744)Gcc>Acc p.A248T APBA2_ENST00000558259.1_Missense_Mutation_p.A248T|APBA2_ENST00000561069.1_Missense_Mutation_p.A248T|APBA2_ENST00000411764.1_Missense_Mutation_p.A248T|APBA2_ENST00000558330.1_Missense_Mutation_p.A248T Q99767 APBA2_HUMAN amyloid beta (A4) precursor protein-binding, family A, member 2 248 STXBP1-binding. nervous system development|protein transport protein binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1) 59 all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234) all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24) CGCCAGTGAGGCCAGCCCCGA 0.647000 21 37 0 0 1 0 0 HS3ST1 9957 broad.mit.edu 37 4 11400739 11400739 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:11400739G>A ENST00000002596.5 - 2 2065 c.891C>T c.(889-891)ttC>ttT p.F297F NM_005114.2 NP_005105.1 O14792 HS3S1_HUMAN heparan sulfate (glucosamine) 3-O-sulfotransferase 1 297 Golgi lumen|integral to membrane [heparan sulfate]-glucosamine 3-sulfotransferase 1 activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(6)|skin(3) 15 CAACAAGCTCGAAGAACTTCT 0.443000 47 147 0 0 1 0 0 ELAVL3 1995 broad.mit.edu 37 19 11569314 11569314 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:11569314C>T ENST00000359227.3 - 4 870 c.446G>A c.(445-447)gGc>gAc p.G149D ELAVL3_ENST00000438662.2_Missense_Mutation_p.G149D NM_001420.3|NM_032281.2 NP_001411.2|NP_115657.2 Q14576 ELAV3_HUMAN ELAV like neuron-specific RNA binding protein 3 149 RRM 2. cell differentiation|nervous system development AU-rich element binding|nucleotide binding breast(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 15 GATGATGCGGCCGTACTGGGA 0.627000 52 109 0 0 1 0 0 MYH15 22989 broad.mit.edu 37 3 108160017 108160017 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:108160017C>T ENST00000273353.3 - 24 2862 c.2806G>A c.(2806-2808)Gag>Aag p.E936K NM_014981.1 NP_055796.1 Q9Y2K3 MYH15_HUMAN myosin, heavy chain 15 936 myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 105 TCCACCCTCTCCGACAGCTCC 0.488000 54 78 0 0 1 0 0 ITK 3702 broad.mit.edu 37 5 156675952 156675952 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:156675952C>T ENST00000422843.3 + 16 1878 c.1726C>T c.(1726-1728)Cgg>Tgg p.R576W ITK_ENST00000519749.1_3'UTR NM_005546.3 NP_005537.3 Q08881 ITK_HUMAN IL2-inducible T-cell kinase 576 Protein kinase. cellular defense response|intracellular signal transduction|T cell receptor signaling pathway cytosol|plasma membrane ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(25)|ovary(8)|prostate(2)|skin(7)|stomach(2)|upper_aerodigestive_tract(1) 70 Renal(175;0.00212) Medulloblastoma(196;0.0354)|all_neural(177;0.1) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) TACCGGATTTCGGTTGTACAA 0.502000 T SYK peripheral T-cell lymphoma 24 56 0 0 1 0 0 MIR187 406963 broad.mit.edu 37 18 33484794 33484794 + RNA SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr18:33484794C>T ENST00000385062.1 - 0 95 NR_029616.1 GGACCTGCGTCCCTCCGGCTG 0.642000 8 8 0 0 1 0 0 WEE2 494551 broad.mit.edu 37 7 141418885 141418885 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:141418885G>A ENST00000397541.2 + 4 1005 c.599G>A c.(598-600)cGa>cAa p.R200Q WEE2-AS1_ENST00000488785.1_RNA NM_001105558.1 NP_001099028.1 P0C1S8 WEE2_HUMAN WEE1 homolog 2 (S. pombe) 200 egg activation|female meiosis|female pronucleus assembly|meiotic metaphase II|meiotic prophase I|mitosis|negative regulation of oocyte development|regulation of meiosis I centrosome|nucleus ATP binding|magnesium ion binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(2)|stomach(1) 31 Melanoma(164;0.0171) TGTGTTTTACGAGAAACCAAC 0.343000 81 163 0 0 1 0 0 DOK3 79930 broad.mit.edu 37 5 176931187 176931187 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:176931187G>A ENST00000501403.2 - 6 1469 c.1120C>T c.(1120-1122)Ccc>Tcc p.P374S DOK3_ENST00000377112.4_Intron|DOK3_ENST00000357198.4_Missense_Mutation_p.P430S|DOK3_ENST00000312943.6_Intron Q7L591 DOK3_HUMAN docking protein 3 430 cytoplasm|plasma membrane insulin receptor binding NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|lung(7) 13 all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286) all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.191) TGGTAGATGGGACTGGTTGTG 0.682000 19 39 0 0 1 0 0 PCDH15 65217 broad.mit.edu 37 10 55570383 55570383 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:55570383G>A ENST00000373965.2 - 35 4830 c.4436C>T c.(4435-4437)cCa>cTa p.P1479L PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395445.1_Missense_Mutation_p.P1479L|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395438.1_Missense_Mutation_p.H1496Y|PCDH15_ENST00000409834.1_Missense_Mutation_p.H1107Y|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000414778.1_Missense_Mutation_p.P1476L NM_001142771.1|NM_001142772.1 NP_001136243.1|NP_001136244.1 Q96QU1 PCD15_HUMAN protocadherin-related 15 0 equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1) 237 Melanoma(3;0.117)|Lung SC(717;0.238) TCCAGCTGGTGGTAACAATCG 0.378000 HNSCC(58;0.16) 13 143 0 0 1 0 0 P2RY13 53829 broad.mit.edu 37 3 151046291 151046291 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:151046291C>T ENST00000325602.5 - 2 572 c.553G>A c.(553-555)Gaa>Aaa p.E185K MED12L_ENST00000491549.1_Intron|MED12L_ENST00000273432.4_Intron|MED12L_ENST00000474524.1_Intron NM_176894.2 NP_795713.2 Q9BPV8 P2Y13_HUMAN purinergic receptor P2Y, G-protein coupled, 13 185 integral to membrane|plasma membrane biliary_tract(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 14 LUSC - Lung squamous cell carcinoma(72;0.0189)|Lung(72;0.0278) GGTGTTGCTTCCTTGTTGCTC 0.388000 37 60 0 0 1 0 0 TET3 200424 broad.mit.edu 37 2 74274540 74274540 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:74274540C>T ENST00000409262.3 + 1 1091 c.1091C>T c.(1090-1092)cCg>cTg p.P364L NM_144993.1 NP_659430.1 O43151 TET3_HUMAN tet methylcytosine dioxygenase 3 364 metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 TCTTCCTCCCCGGCCCCGGCC 0.652000 14 26 0 0 1 0 0 MMP13 4322 broad.mit.edu 37 11 102816431 102816431 + Missense_Mutation SNP A A T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:102816431A>T ENST00000260302.3 - 9 1287 c.1259T>A c.(1258-1260)aTa>aAa p.I420K MMP13_ENST00000340273.4_Missense_Mutation_p.I420K NM_002427.3 NP_002418.1 P45452 MMP13_HUMAN matrix metallopeptidase 13 (collagenase 3) 420 Hemopexin-like 3. collagen catabolic process|proteolysis extracellular space metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|skin(1)|stomach(1) 27 all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) BRCA - Breast invasive adenocarcinoma(274;0.0144) GTCTTCTTCTATTAGTCTCGG 0.323000 29 28 0 0 1 0 0 ZC3H11A 9877 broad.mit.edu 37 1 203820242 203820242 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:203820242C>T ENST00000545588.1 + 16 5991 c.2164C>T c.(2164-2166)Cct>Tct p.P722S ZC3H11A_ENST00000367210.1_Missense_Mutation_p.P722S|ZC3H11A_ENST00000367212.3_Missense_Mutation_p.P722S|ZC3H11A_ENST00000367214.1_Missense_Mutation_p.P722S|ZC3H11A_ENST00000332127.4_Missense_Mutation_p.P722S NM_001271675.1 NP_001258604.1 O75152 ZC11A_HUMAN zinc finger CCCH-type containing 11A 722 nucleic acid binding|protein binding|zinc ion binding central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 32 all_cancers(21;0.0904)|all_epithelial(62;0.234) BRCA - Breast invasive adenocarcinoma(75;0.109) AGCAGAAAATCCTAGAGACAG 0.413000 75 196 0 0 1 0 0 ERN1 2081 broad.mit.edu 37 17 62135261 62135261 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:62135261G>A ENST00000433197.2 - 12 1394 c.1299C>T c.(1297-1299)ccC>ccT p.P433P NM_001433.3 NP_001424.3 O75460 ERN1_HUMAN endoplasmic reticulum to nucleus signaling 1 433 activation of signaling protein activity involved in unfolded protein response|apoptosis|cell cycle arrest|induction of apoptosis|mRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent integral to endoplasmic reticulum membrane ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein binding|protein serine/threonine kinase activity central_nervous_system(4)|kidney(1)|lung(2)|ovary(1)|stomach(1) 9 CGGGGGCCTCGGGCCGGGCAG 0.592000 7 42 0 0 1 0 0 UPP2 151531 broad.mit.edu 37 2 158974442 158974442 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:158974442G>A ENST00000605860.1 + 7 663 c.617G>A c.(616-618)gGg>gAg p.G206E UPP2_ENST00000409859.4_Missense_Mutation_p.G206E|UPP2_ENST00000460456.1_Intron|UPP2_ENST00000005756.4_Missense_Mutation_p.G149E O95045 UPP2_HUMAN uridine phosphorylase 2 149 nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process|pyrimidine nucleoside salvage|uridine metabolic process cytosol|type III intermediate filament uridine phosphorylase activity breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1) 31 GGTACATCAGGGGGAATAGGT 0.428000 36 101 0 0 1 0 0 HECW1 23072 broad.mit.edu 37 7 43496020 43496020 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:43496020C>T ENST00000395891.1 + 13 3230 c.2625C>T c.(2623-2625)atC>atT p.I875I HECW1_ENST00000453890.1_Silent_p.I841I NM_015052.3 NP_055867.3 Q76N89 HECW1_HUMAN HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1 875 protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus ubiquitin-protein ligase activity NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3) 125 CGGGGTCCATCCAGCAGATGG 0.587000 8 72 0 0 1 0 0 CACNA1S 779 broad.mit.edu 37 1 201020184 201020184 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:201020184C>T ENST00000362061.3 - 33 4267 c.4041G>A c.(4039-4041)ggG>ggA p.G1347G CACNA1S_ENST00000367338.3_Silent_p.G1328G NM_000069.2 NP_000060.2 Q13698 CAC1S_HUMAN calcium channel, voltage-dependent, L type, alpha 1S subunit 1347 Dihydropyridine binding (By similarity). axon guidance I band|T-tubule|voltage-gated calcium channel complex high voltage-gated calcium channel activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 102 Magnesium Sulfate(DB00653)|Verapamil(DB00661) TGTACTCCTCCCCTGGGGCAT 0.567000 89 118 0 0 1 0 0 OR1S1 219959 broad.mit.edu 37 11 57982598 57982598 + Missense_Mutation SNP T T G TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:57982598T>G ENST00000309433.6 + 1 382 c.382T>G c.(382-384)Ttg>Gtg p.L128V NM_001004458.1 NP_001004458.1 Q8NH92 OR1S1_HUMAN olfactory receptor, family 1, subfamily S, member 1 128 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(24)|kidney(1)|large_intestine(1)|liver(1)|lung(10)|prostate(1)|skin(2)|stomach(3)|urinary_tract(3) 48 Breast(21;0.0589) CAATTTGCTCTTGGGGACCAT 0.453000 55 153 0 0 1 0 0 HBG2 3048 broad.mit.edu 37 11 5274629 5274629 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:5274629C>T ENST00000380259.2 - 8 1562 c.322G>A c.(322-324)Gga>Aga p.G108R HBG2_ENST00000380252.1_Missense_Mutation_p.G98R|HBG2_ENST00000336906.4_Missense_Mutation_p.G108R hemoglobin, gamma G endometrium(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2) 13 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) AGCACATTTCCCAGGAGCTGT 0.522000 17 25 0 0 1 0 0 ZNF30 90075 broad.mit.edu 37 19 35422888 35422888 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:35422888G>A ENST00000439785.1 + 3 595 c.151G>A c.(151-153)Gtg>Atg p.V51M ZNF30_ENST00000303586.7_Missense_Mutation_p.V51M|ZNF30_ENST00000601957.1_Missense_Mutation_p.V51M|ZNF30_ENST00000426813.2_5'UTR|ZNF30_ENST00000601142.1_Missense_Mutation_p.V51M|ZNF30_ENST00000601540.1_3'UTR NM_001099438.1 NP_001092908.1 P17039 ZNF30_HUMAN zinc finger protein 30 51 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(2) 16 all_lung(56;8.38e-08)|Lung NSC(56;1.31e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0849) GBM - Glioblastoma multiforme(1328;0.0265) CAGGAACTTGGTGTCAATGGG 0.468000 12 28 0 0 1 0 0 LGI2 55203 broad.mit.edu 37 4 25005417 25005417 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:25005417G>A ENST00000382114.4 - 8 1479 c.1294C>T c.(1294-1296)Ctc>Ttc p.L432F NM_018176.3 NP_060646.2 Q8N0V4 LGI2_HUMAN leucine-rich repeat LGI family, member 2 432 extracellular region breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(2) 33 Breast(46;0.173) GAAAGGTAGAGGGTATTTTGC 0.532000 133 313 0 0 1 0 0 PROK1 84432 broad.mit.edu 37 1 110998915 110998915 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:110998915C>T ENST00000271331.3 + 3 277 c.260C>T c.(259-261)tCc>tTc p.S87F NM_032414.2 NP_115790.1 P58294 PROK1_HUMAN prokineticin 1 87 angiogenesis|positive regulation of cell division extracellular region growth factor activity breast(1)|endometrium(1)|large_intestine(1)|lung(4)|skin(1)|stomach(1) 9 all_cancers(81;6.23e-06)|all_epithelial(167;2.12e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301) Lung(183;0.0239)|all cancers(265;0.0699)|Epithelial(280;0.0753)|Colorectal(144;0.105)|LUSC - Lung squamous cell carcinoma(189;0.135) CTGCTGTGCTCCAGGTTCCCG 0.537000 29 69 0 0 1 0 0 TMEM176A 55365 broad.mit.edu 37 7 150499314 150499314 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:150499314C>T ENST00000484928.1 + 3 767 c.186C>T c.(184-186)atC>atT p.I62I TMEM176A_ENST00000004103.3_Silent_p.I62I|TMEM176A_ENST00000461345.1_Silent_p.I3I Q96HP8 T176A_HUMAN transmembrane protein 176A 62 integral to membrane breast(1)|endometrium(1)|lung(7)|ovary(2)|stomach(1) 12 OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) TGATGCAGATCGTGCTGGGGA 0.562000 18 175 0 0 1 0 0 STIM2 57620 broad.mit.edu 37 4 27019544 27019544 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:27019544C>T ENST00000382009.3 + 12 2253 c.1986C>T c.(1984-1986)tgC>tgT p.C662C STIM2_ENST00000237364.5_Silent_p.C654C|STIM2_ENST00000412829.2_Silent_p.C654C|STIM2_ENST00000467087.1_Silent_p.C567C|STIM2_ENST00000467011.1_Silent_p.C567C|STIM2_ENST00000465503.1_Silent_p.C575C NM_001169118.1 NP_001162589.1 Q9P246 STIM2_HUMAN stromal interaction molecule 2 567 activation of store-operated calcium channel activity|calcium ion transport|cellular calcium ion homeostasis|negative regulation of calcium ion transport via store-operated calcium channel activity endoplasmic reticulum membrane|integral to membrane|plasma membrane calcium channel regulator activity|calcium ion binding|protein binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(7)|prostate(1)|skin(2)|urinary_tract(1) 25 Breast(46;0.0503) TGTCAAGTTGCCCTGCGCTTT 0.537000 9 497 0 0 1 0 0 CDC25C 995 broad.mit.edu 37 5 137627784 137627784 + Missense_Mutation SNP G G A rs114224600 byFrequency TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:137627784G>A ENST00000323760.6 - 8 915 c.637C>T c.(637-639)Cgc>Tgc p.R213C CDC25C_ENST00000348983.3_Missense_Mutation_p.R140C|CDC25C_ENST00000514555.1_Missense_Mutation_p.R183C|CDC25C_ENST00000415130.2_Missense_Mutation_p.R140C|CDC25C_ENST00000513970.1_Missense_Mutation_p.R213C|CDC25C_ENST00000357274.3_Missense_Mutation_p.R170C|CDC25C_ENST00000356505.3_Missense_Mutation_p.R183C NM_001790.3 NP_001781.2 P30307 MPIP3_HUMAN cell division cycle 25C 213 cell cycle checkpoint|cell division|cell proliferation|DNA replication|G2/M transition of mitotic cell cycle|interspecies interaction between organisms|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of mitosis|traversing start control point of mitotic cell cycle cytosol|nucleoplasm protein tyrosine phosphatase activity|WW domain binding endometrium(2)|kidney(3)|large_intestine(5)|lung(5)|skin(1) 16 KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592) GACGGGGAGCGATATAGGCCA 0.448000 50 129 0 0 1 0 0 SLC9A2 6549 broad.mit.edu 37 2 103321079 103321079 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:103321079G>A ENST00000233969.2 + 10 2064 c.1922G>A c.(1921-1923)cGa>cAa p.R641Q NM_003048.3 NP_003039.2 Q9UBY0 SL9A2_HUMAN solute carrier family 9, subfamily A (NHE2, cation proton antiporter 2), member 2 641 integral to membrane|plasma membrane sodium:hydrogen antiporter activity breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 42 ATTCGCCGGCGACACAGTTTG 0.502000 27 78 0 0 1 0 0 PLCH1 23007 broad.mit.edu 37 3 155200720 155200720 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:155200720C>T ENST00000460012.1 - 23 3362 c.3005G>A c.(3004-3006)gGg>gAg p.G1002E PLCH1_ENST00000494598.1_Intron|PLCH1_ENST00000414191.1_Missense_Mutation_p.G1002E|PLCH1_ENST00000340059.7_Missense_Mutation_p.G1040E|PLCH1_ENST00000334686.6_Missense_Mutation_p.G1002E|PLCH1_ENST00000447496.2_3'UTR Q4KWH8 PLCH1_HUMAN phospholipase C, eta 1 1040 lipid catabolic process|phosphatidylinositol-mediated signaling membrane calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4) 107 Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114) AATGGTGTCCCCTTGGCTGGT 0.448000 49 76 0 0 1 0 0 MMP15 4324 broad.mit.edu 37 16 58071445 58071445 + Missense_Mutation SNP A A T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr16:58071445A>T ENST00000219271.3 + 2 1017 c.232A>T c.(232-234)Atc>Ttc p.I78F NM_002428.2 NP_002419.1 P51511 MMP15_HUMAN matrix metallopeptidase 15 (membrane-inserted) 78 protein modification process|proteolysis extracellular matrix|integral to plasma membrane calcium ion binding|enzyme activator activity|metalloendopeptidase activity|protein binding|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 18 TTCCGCCCAGATCTTGGCCTC 0.602000 67 57 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9019338 9019338 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:9019338G>A ENST00000397910.4 - 23 37752 c.37549C>T c.(37549-37551)Cct>Tct p.P12517S NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 12519 cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 GAGGTCCCAGGAGCTGAGAAA 0.483000 8 24 0 0 1 0 0 FLT3 2322 broad.mit.edu 37 13 28624232 28624232 + Splice_Site SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr13:28624232C>T ENST00000380982.4 - 6 823 c.742_splice c.e6+1 p.D248_splice FLT3_ENST00000241453.7_Splice_Site_p.D248_splice|FLT3_ENST00000537084.1_Splice_Site_p.D248_splice P36888 FLT3_HUMAN fms-related tyrosine kinase 3 248 positive regulation of cell proliferation integral to plasma membrane ATP binding|vascular endothelial growth factor receptor activity NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 12390 Acute lymphoblastic leukemia(6;0.04) Lung SC(185;0.0156)|Ovarian(182;0.0392) Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105) OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212) Sorafenib(DB00398)|Sunitinib(DB01268) ATAGTGTTACCTATTGTGAAC 0.413000 """Mis, O""" """AML, ALL""" 49 79 0 0 1 0 0 CUX1 1523 broad.mit.edu 37 7 101845091 101845091 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:101845091C>T ENST00000360264.3 + 18 2567 c.2547C>T c.(2545-2547)tcC>tcT p.S849S CUX1_ENST00000437600.4_Intron|CUX1_ENST00000425244.2_Intron|CUX1_ENST00000546411.2_Silent_p.S736S|CUX1_ENST00000292535.7_Silent_p.S838S|CUX1_ENST00000560541.1_Intron|CUX1_ENST00000393824.3_Intron|CUX1_ENST00000549414.2_Silent_p.S816S|CUX1_ENST00000547394.2_Intron|CUX1_ENST00000556210.1_Silent_p.S680S|CUX1_ENST00000292538.4_Intron|CUX1_ENST00000550008.2_Silent_p.S782S NM_001202543.1 NP_001189472.1 P39880 CUX1_HUMAN cut-like homeobox 1 838 negative regulation of transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5) 70 CCGCCTCCTCCGAGGAGGCCA 0.677000 34 68 0 0 1 0 0 ZNF423 23090 broad.mit.edu 37 16 49672429 49672429 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr16:49672429G>A ENST00000561648.1 - 4 687 c.634C>T c.(634-636)Cac>Tac p.H212Y ZNF423_ENST00000562520.1_Missense_Mutation_p.H152Y|ZNF423_ENST00000535559.1_Missense_Mutation_p.H95Y|ZNF423_ENST00000567169.1_Missense_Mutation_p.H95Y|ZNF423_ENST00000562871.1_Missense_Mutation_p.H152Y|ZNF423_ENST00000262383.2_Missense_Mutation_p.H212Y|ZNF423_ENST00000563137.2_Missense_Mutation_p.H152Y NM_001271620.1 NP_001258549.1 Q2M1K9 ZN423_HUMAN zinc finger protein 423 212 cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2) 89 all_cancers(37;0.0155) GTCTTCAGGTGGATCTTGAGG 0.612000 4 54 0 0 1 0 0 ZIM2 23619 broad.mit.edu 37 19 57286819 57286819 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:57286819G>A ENST00000391708.3 - 12 1363 c.821C>T c.(820-822)cCc>cTc p.P274L ZIM2_ENST00000599935.1_Missense_Mutation_p.P274L|AC006115.3_ENST00000595954.1_RNA|ZIM2_ENST00000601070.1_Missense_Mutation_p.P274L|ZIM2_ENST00000221722.5_Missense_Mutation_p.P274L|AC006115.3_ENST00000594400.1_RNA|AC006115.3_ENST00000597946.1_RNA|ZIM2_ENST00000593711.1_Missense_Mutation_p.P274L NM_001146326.1|NM_001146327.1 NP_001139798.1|NP_001139799.1 zinc finger, imprinted 2 NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0314) GAGGGTCTTGGGGTCATTCAT 0.448000 8 106 0 0 1 0 0 CYP4A11 1579 broad.mit.edu 37 1 47400170 47400170 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:47400170C>T ENST00000457840.2 - 6 688 c.385G>A c.(385-387)Gag>Aag p.E129K CYP4A11_ENST00000371904.4_Silent_p.K285K|CYP4A11_ENST00000475477.1_5'UTR|CYP4A11_ENST00000371905.1_Silent_p.K284K|CYP4A11_ENST00000310638.4_Silent_p.K284K Q02928 CP4AB_HUMAN cytochrome P450, family 4, subfamily A, polypeptide 11 0 long-chain fatty acid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome alkane 1-monooxygenase activity|electron carrier activity|heme binding|oxygen binding endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2) 36 NADH(DB00157) GCCTCTTCCTCTTGATCTTCT 0.498000 6 143 0 0 1 0 0 ASIC2 40 broad.mit.edu 37 17 31352999 31352999 + Splice_Site SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:31352999C>T ENST00000225823.2 - 5 2012 c.1138_splice c.e5-1 p.G380_splice ASIC2_ENST00000359872.6_Splice_Site_p.G329_splice|ASIC2_ENST00000448983.1_5'UTR NM_183377.1 NP_899233.1 Q16515 ACCN1_HUMAN acid-sensing (proton-gated) ion channel 2 329 central nervous system development|peripheral nervous system development|synaptic transmission integral to plasma membrane ligand-gated sodium channel activity|protein binding Amiloride(DB00594) AAGGGGCATCCCCTGCAAAGA 0.572000 20 76 0 0 1 0 0 SULT2B1 6820 broad.mit.edu 37 19 49090650 49090650 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:49090650C>T ENST00000323090.4 + 2 709 c.334C>T c.(334-336)Ccc>Tcc p.P112S SULT2B1_ENST00000201586.2_Missense_Mutation_p.P127S NM_004605.2 NP_004596.2 O00204 ST2B1_HUMAN sulfotransferase family, cytosolic, 2B, member 1 127 3'-phosphoadenosine 5'-phosphosulfate metabolic process|steroid metabolic process|xenobiotic metabolic process cytosol alcohol sulfotransferase activity|protein binding|steroid sulfotransferase activity central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|skin(2)|urinary_tract(1) 11 all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) OV - Ovarian serous cystadenocarcinoma(262;0.000115)|all cancers(93;0.000147)|GBM - Glioblastoma multiforme(486;0.00707)|Epithelial(262;0.0178) CTCCCATCTTCCCATCCAGAT 0.612000 50 116 0 0 1 0 0 PGR 5241 broad.mit.edu 37 11 100912795 100912795 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:100912795C>T ENST00000325455.5 - 7 3980 c.2527G>A c.(2527-2529)Gag>Aag p.E843K PGR_ENST00000263463.5_Missense_Mutation_p.E741K|PGR_ENST00000534013.1_Missense_Mutation_p.E249K NM_000926.4|NM_001202474.1 NP_000917.3|NP_001189403.1 P06401 PRGR_HUMAN progesterone receptor 843 Steroid-binding. cell-cell signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor cytoplasm|nucleoplasm enzyme binding|receptor binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 36 Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014) LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164) Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Mifepristone(DB00834)|Norethindrone(DB00717)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396) GACCTCATCTCCTCAAACTGG 0.383000 34 29 0 0 1 0 0 NLRP8 126205 broad.mit.edu 37 19 56466228 56466228 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:56466228G>A ENST00000291971.3 + 3 875 c.804G>A c.(802-804)caG>caA p.Q268Q NLRP8_ENST00000590542.1_Silent_p.Q268Q NM_176811.2 NP_789781.2 Q86W28 NALP8_HUMAN NLR family, pyrin domain containing 8 268 NACHT. Q -> R (in dbSNP:rs7259764). cytoplasm ATP binding breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2) 35 Colorectal(82;0.000147)|Ovarian(87;0.17) GBM - Glioblastoma multiforme(193;0.0695) CTGGATCTCAGGACCTCGTGT 0.517000 107 180 0 0 1 0 0 MTMR4 9110 broad.mit.edu 37 17 56581525 56581525 + Silent SNP G G A rs139674521 TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:56581525G>A ENST00000323456.5 - 14 1666 c.1542C>T c.(1540-1542)aaC>aaT p.N514N MTMR4_ENST00000579925.1_Intron NM_004687.4 NP_004678.3 Q9NYA4 MTMR4_HUMAN myotubularin related protein 4 514 Myotubularin phosphatase. cytoplasm|membrane metal ion binding|protein tyrosine phosphatase activity breast(10)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|skin(5) 36 Medulloblastoma(34;0.127)|all_neural(34;0.237) GCTCACAGGGGTTGTTGGCCA 0.542000 67 254 0 0 1 0 0 FNDC3B 64778 broad.mit.edu 37 3 172025235 172025235 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:172025235C>T ENST00000336824.4 + 10 1243 c.1144C>T c.(1144-1146)Cct>Tct p.P382S FNDC3B_ENST00000416957.1_Missense_Mutation_p.P382S|FNDC3B_ENST00000415807.2_Missense_Mutation_p.P382S NM_001135095.1 NP_001128567.1 Q53EP0 FND3B_HUMAN fibronectin type III domain containing 3B 382 Fibronectin type-III 2. endoplasmic reticulum|integral to membrane breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(26)|ovary(3)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1) 69 all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165) LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14) GBM - Glioblastoma multiforme(1;0.0494) ACCCGAGTGTCCTTTCCCCCC 0.478000 40 82 0 0 1 0 0 LRGUK 136332 broad.mit.edu 37 7 133848188 133848188 + Silent SNP C C T rs61732268 TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:133848188C>T ENST00000285928.2 + 7 904 c.835C>T c.(835-837)Ctg>Ttg p.L279L NM_144648.1 NP_653249.1 Q96M69 LRGUK_HUMAN leucine-rich repeats and guanylate kinase domain containing 279 ATP binding|kinase activity breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 49 TTTGGAGGATCTGAAAGCCCT 0.418000 46 111 0 0 1 0 0 TRPC7 57113 broad.mit.edu 37 5 135692334 135692334 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:135692334C>T ENST00000513104.1 - 2 1024 c.742G>A c.(742-744)Gag>Aag p.E248K TRPC7_ENST00000355180.3_Missense_Mutation_p.E248K|TRPC7_ENST00000426057.2_Missense_Mutation_p.E248K NM_020389.2 NP_065122.1 Q9HCX4 TRPC7_HUMAN transient receptor potential cation channel, subfamily C, member 7 248 axon guidance|platelet activation integral to membrane|plasma membrane calcium channel activity|protein binding NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3) 46 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) CTGGCTAACTCGTTGCTGAGC 0.577000 13 22 0 0 1 0 0 COL6A3 1293 broad.mit.edu 37 2 238289897 238289897 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:238289897C>T ENST00000295550.4 - 5 2010 c.1558G>A c.(1558-1560)Ggc>Agc p.G520S COL6A3_ENST00000472056.1_Missense_Mutation_p.G113S|COL6A3_ENST00000392004.3_Missense_Mutation_p.G314S|COL6A3_ENST00000353578.4_Missense_Mutation_p.G314S|COL6A3_ENST00000346358.4_Missense_Mutation_p.G520S|COL6A3_ENST00000347401.3_Missense_Mutation_p.G319S|COL6A3_ENST00000392003.2_Missense_Mutation_p.G113S|COL6A3_ENST00000409809.1_Missense_Mutation_p.G314S NM_004369.3 NP_004360.2 P12111 CO6A3_HUMAN collagen, type VI, alpha 3 520 Nonhelical region.|VWFA 3. axon guidance|cell adhesion|muscle organ development collagen type VI|extracellular space serine-type endopeptidase inhibitor activity breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4) 217 Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203) Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034) AGGGCCGAGCCGTCCAGGGGC 0.522000 74 187 0 0 1 0 0 SERTAD4 56256 broad.mit.edu 37 1 210411395 210411395 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:210411395G>A ENST00000367012.3 + 2 320 c.90G>A c.(88-90)gaG>gaA p.E30E SERTAD4_ENST00000490620.1_3'UTR NM_019605.3 NP_062551.1 Q9NUC0 SRTD4_HUMAN SERTA domain containing 4 30 protein binding endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1) 14 OV - Ovarian serous cystadenocarcinoma(81;0.0237)|all cancers(67;0.127) CACTATGGGAGGCTGACAGCT 0.587000 46 175 0 0 1 0 0 FAT4 79633 broad.mit.edu 37 4 126367653 126367653 + Nonsense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:126367653C>T ENST00000394329.3 + 8 7412 c.7399C>T c.(7399-7401)Cag>Tag p.Q2467* FAT4_ENST00000335110.5_Nonsense_Mutation_p.Q765* NM_024582.4 NP_078858.4 Q6V0I7 FAT4_HUMAN FAT atypical cadherin 4 2467 Cadherin 24. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6) 355 ACCAAGATTTCAGCATCACCC 0.463000 43 95 0 0 1 0 0 RANBP3L 202151 broad.mit.edu 37 5 36271372 36271372 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:36271372C>T ENST00000296604.3 - 2 618 c.133G>A c.(133-135)Gga>Aga p.G45R RANBP3L_ENST00000502994.1_Missense_Mutation_p.G45R|RANBP3L_ENST00000515759.1_Missense_Mutation_p.G45R NM_145000.3 NP_659437.3 Q86VV4 RNB3L_HUMAN RAN binding protein 3-like 45 intracellular transport endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|urinary_tract(1) 16 all_lung(31;4.52e-05) Epithelial(62;0.0543)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.149)|Colorectal(62;0.202) GTTTGTTCTCCCTTTTCAAAA 0.303000 25 65 0 0 1 0 0 CNTRL 11064 broad.mit.edu 37 9 123904426 123904426 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:123904426C>T ENST00000373855.1 + 19 3009 c.2749C>T c.(2749-2751)Cac>Tac p.H917Y CNTRL_ENST00000238341.5_Missense_Mutation_p.H917Y|CNTRL_ENST00000373847.1_Missense_Mutation_p.H365Y|CNTRL_ENST00000373850.1_Missense_Mutation_p.H365Y Q7Z7A1 CNTRL_HUMAN centriolin 917 cell division|G2/M transition of mitotic cell cycle centrosome|cytosol protein binding haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3) 20 GAATGAAATTCACTATTTGCA 0.358000 17 34 0 0 1 0 0 STRN 6801 broad.mit.edu 37 2 37096850 37096850 + Missense_Mutation SNP A A G TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:37096850A>G ENST00000263918.4 - 11 1354 c.1346T>C c.(1345-1347)tTg>tCg p.L449S STRN_ENST00000379213.2_Missense_Mutation_p.L400S NM_003162.3 NP_003153.2 O43815 STRN_HUMAN striatin, calmodulin binding protein 449 dendrite development|locomotory behavior|negative regulation of cell proliferation|tight junction assembly|Wnt receptor signaling pathway cytoplasm|dendritic spine|neuronal cell body|postsynaptic density|postsynaptic membrane|tight junction armadillo repeat domain binding|calmodulin binding|estrogen receptor binding|protein complex binding|protein phosphatase 2A binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 33 Ovarian(717;0.0129)|all_hematologic(82;0.21) TGTCTTCCTCAATGCATCTTT 0.363000 22 41 0 0 1 0 0 QTRT1 81890 broad.mit.edu 37 19 10822956 10822956 + Nonsense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:10822956C>T ENST00000250237.5 + 6 776 c.766C>T c.(766-768)Cga>Tga p.R256* NM_031209.2 NP_112486.1 Q9BXR0 TGT_HUMAN queuine tRNA-ribosyltransferase 1 256 queuosine biosynthetic process mitochondrion|nucleus|ribosome metal ion binding|queuine tRNA-ribosyltransferase activity large_intestine(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1) 12 Epithelial(33;1.55e-05)|all cancers(31;3.42e-05) GGACAAGCCCCGATATCTGAT 0.642000 25 68 0 0 1 0 0 BATF2 116071 broad.mit.edu 37 11 64756633 64756633 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:64756633G>A ENST00000301887.4 - 3 923 c.793C>T c.(793-795)Cct>Tct p.P265S BATF2_ENST00000527716.1_Missense_Mutation_p.P241S|BATF2_ENST00000435842.2_Missense_Mutation_p.P180S NM_138456.3 NP_612465.3 Q8N1L9 BATF2_HUMAN basic leucine zipper transcription factor, ATF-like 2 265 nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(1)|ovary(1)|skin(1) 9 GAGAGCAGAGGAAAGGCCAGG 0.602000 40 64 0 0 1 0 0 GLI2 2736 broad.mit.edu 37 2 121742109 121742109 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:121742109G>A ENST00000452319.1 + 12 1806 c.1746G>A c.(1744-1746)cgG>cgA p.R582R GLI2_ENST00000314490.11_Silent_p.R254R|GLI2_ENST00000361492.4_Silent_p.R582R|GLI2_ENST00000435313.2_3'UTR P10070 GLI2_HUMAN GLI family zinc finger 2 582 axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 Renal(3;0.0496) Prostate(154;0.0623) GCTCTCTCCGGAAGCATGTGA 0.572000 10 264 0 0 1 0 0 KRT28 162605 broad.mit.edu 37 17 38953174 38953174 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:38953174C>T ENST00000306658.7 - 5 1037 c.972G>A c.(970-972)atG>atA p.M324I NM_181535.3 NP_853513.2 Q7Z3Y7 K1C28_HUMAN keratin 28 324 Coil 2.|Rod. cytoplasm|intermediate filament structural molecule activity NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 30 Breast(137;0.000301) CTACCGTGGCCATCAGGGACT 0.572000 13 108 0 0 1 0 0 SEC14L4 284904 broad.mit.edu 37 22 30887838 30887838 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr22:30887838G>A ENST00000392772.2 - 10 1009 c.732C>T c.(730-732)ttC>ttT p.F244F SEC14L4_ENST00000255858.7_Silent_p.F298F|RP4-539M6.14_ENST00000442126.1_RNA|SEC14L4_ENST00000540456.1_Silent_p.F283F|SEC14L4_ENST00000381982.3_Silent_p.F298F Q9UDX3 S14L4_HUMAN SEC14-like 4 (S. cerevisiae) 298 CRAL-TRIO. integral to membrane|intracellular lipid binding|transporter activity breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|pancreas(1)|skin(1) 21 Vitamin E(DB00163) CACAGCCCGGGAACAGGATCT 0.647000 8 18 0 0 1 0 0 MECOM 2122 broad.mit.edu 37 3 168833264 168833264 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:168833264C>T ENST00000464456.1 - 7 3032 c.1832G>A c.(1831-1833)gGa>gAa p.G611E MECOM_ENST00000433243.2_Missense_Mutation_p.G612E|MECOM_ENST00000460814.1_Missense_Mutation_p.G611E|MECOM_ENST00000494292.1_Missense_Mutation_p.G799E|MECOM_ENST00000392736.3_Missense_Mutation_p.G611E|MECOM_ENST00000264674.3_Missense_Mutation_p.G676E|MECOM_ENST00000472280.1_Missense_Mutation_p.G612E|MECOM_ENST00000468789.1_Missense_Mutation_p.G611E NM_001164000.1 NP_001157472.1 Q13465 MDS1_HUMAN MDS1 and EVI1 complex locus 20 sequence-specific DNA binding transcription factor activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4) 85 TCCTTTTTTTCCCCCAAACAC 0.502000 29 51 0 0 1 0 0 AE000661.37 0 broad.mit.edu 37 14 22925710 22925710 + RNA SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr14:22925710G>A ENST00000514473.2 - 0 225 TRDJ2_ENST00000390475.1_RNA CTTTGGAAAGGGAACACAACT 0.418000 79 180 0 0 1 0 0 KRT71 112802 broad.mit.edu 37 12 52941650 52941650 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:52941650C>T ENST00000267119.5 - 6 1164 c.1095G>A c.(1093-1095)gtG>gtA p.V365V NM_033448.2 NP_258259.1 Q3SY84 K2C71_HUMAN keratin 71 365 Coil 2.|Rod. structural molecule activity breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1) 22 BRCA - Breast invasive adenocarcinoma(357;0.194) CCTGCTTCTTCACGTTCTCGA 0.562000 94 203 0 0 1 0 0 CDH11 1009 broad.mit.edu 37 16 64982577 64982577 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr16:64982577G>A ENST00000394156.3 - 13 2461 c.2008C>T c.(2008-2010)Ctg>Ttg p.L670L CDH11_ENST00000566827.1_Intron|CDH11_ENST00000268603.4_Intron P55287 CAD11_HUMAN cadherin 11, type 2, OB-cadherin (osteoblast) 0 adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development integral to membrane|plasma membrane calcium ion binding|protein binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2) 88 Ovarian(137;0.0973) OV - Ovarian serous cystadenocarcinoma(108;0.205) AAGACCCCCAGAAGACAAAAT 0.423000 T USP6 aneurysmal bone cysts TSP Lung(24;0.17) 11 9 0 0 1 0 0 MYH13 8735 broad.mit.edu 37 17 10231231 10231231 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:10231231C>T ENST00000418404.3 - 21 2806 c.2643G>A c.(2641-2643)atG>atA p.M881I MYH13_ENST00000252172.4_Missense_Mutation_p.M881I|MYH13_ENST00000570743.1_Missense_Mutation_p.M881I|RP11-401O9.3_ENST00000577743.1_RNA Q9UKX3 MYH13_HUMAN myosin, heavy chain 13, skeletal muscle 881 muscle contraction muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|microfilament motor activity breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2) 108 GGAGGGAGACCATTTTCTCCT 0.522000 OREG0024177 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 36 58 0 0 1 0 0 OR11L1 391189 broad.mit.edu 37 1 248004661 248004661 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:248004661C>T ENST00000355784.2 - 1 593 c.538G>A c.(538-540)Gac>Aac p.D180N NM_001001959.1 NP_001001959.1 Q8NGX0 O11L1_HUMAN olfactory receptor, family 11, subfamily L, member 1 180 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.D180N(1) NS(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 57 all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858) OV - Ovarian serous cystadenocarcinoma(106;0.0319) GGCGGGAGGTCGCAGAAGAAA 0.507000 46 152 0 0 1 0 0 OGG1 4968 broad.mit.edu 37 3 9793488 9793488 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:9793488C>T ENST00000302036.7 + 3 763 c.420C>T c.(418-420)tgC>tgT p.C140C OGG1_ENST00000349503.5_Silent_p.C140C|OGG1_ENST00000302008.8_Silent_p.C140C|OGG1_ENST00000302003.7_Silent_p.C140C|OGG1_ENST00000383826.5_Silent_p.C140C|OGG1_ENST00000339511.5_Silent_p.C140C|OGG1_ENST00000449570.2_Silent_p.C140C|OGG1_ENST00000344629.7_Silent_p.C140C NM_016821.2 NP_058214.1 O15527 OGG1_HUMAN 8-oxoguanine DNA glycosylase 140 depurination|nucleotide-excision repair|regulation of protein import into nucleus, translocation|regulation of transcription, DNA-dependent|response to oxidative stress|response to radiation mitochondrion|nuclear matrix|nuclear speck damaged DNA binding|endonuclease activity|oxidized purine base lesion DNA N-glycosylase activity|protein binding kidney(2)|large_intestine(2)|lung(2)|skin(1)|urinary_tract(1) 8 Medulloblastoma(99;0.227) CCATCGAATGCCTTTTCTCTT 0.572000 Base excision repair (BER), DNA glycosylases 70 216 0 0 1 0 0 DNMT3B 1789 broad.mit.edu 37 20 31368230 31368230 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr20:31368230C>T ENST00000328111.2 + 2 422 c.101C>T c.(100-102)tCg>tTg p.S34L DNMT3B_ENST00000375623.4_Missense_Mutation_p.S34L|DNMT3B_ENST00000456297.2_Missense_Mutation_p.S34L|DNMT3B_ENST00000201963.3_Missense_Mutation_p.S46L|DNMT3B_ENST00000443239.3_Missense_Mutation_p.S34L|DNMT3B_ENST00000348286.2_Missense_Mutation_p.S34L|DNMT3B_ENST00000353855.2_Missense_Mutation_p.S34L|DNMT3B_ENST00000344505.4_Missense_Mutation_p.S34L NM_006892.3 NP_008823.1 Q9UBC3 DNM3B_HUMAN DNA (cytosine-5-)-methyltransferase 3 beta 34 Interaction with DNMT1 and DNMT3A. negative regulation of histone H3-K9 methylation|positive regulation of gene expression|positive regulation of histone H3-K4 methylation metal ion binding|protein binding|transcription corepressor activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 TCCTCCGACTCGCCCCCAATC 0.647000 17 30 0 0 1 0 0 OR4A15 81328 broad.mit.edu 37 11 55135816 55135816 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:55135816G>A ENST00000314706.3 + 1 457 c.457G>A c.(457-459)Gcc>Acc p.A153T NM_001005275.1 NP_001005275.1 Q8NGL6 O4A15_HUMAN olfactory receptor, family 4, subfamily A, member 15 153 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 71 TCGATACATGGCCATCTGTAA 0.438000 6 285 0 0 1 0 0 NRARP 441478 broad.mit.edu 37 9 140196327 140196327 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:140196327G>A ENST00000356628.2 - 1 376 c.54C>T c.(52-54)ttC>ttT p.F18F NM_001004354.2 NP_001004354.1 Q7Z6K4 NRARP_HUMAN NOTCH-regulated ankyrin repeat protein 18 negative regulation of Notch signaling pathway|positive regulation of canonical Wnt receptor signaling pathway lung(3) 3 all_cancers(76;0.0926) STAD - Stomach adenocarcinoma(284;0.185) OV - Ovarian serous cystadenocarcinoma(145;9.07e-05)|Epithelial(140;0.000273) CAGCCTCCTGGAAGATGCGCT 0.716000 40 77 0 0 1 0 0 NCKAP5L 57701 broad.mit.edu 37 12 50190050 50190050 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:50190050G>A ENST00000335999.6 - 8 1794 c.1593C>T c.(1591-1593)gaC>gaT p.D531D NM_001037806.3 NP_001032895.2 Q9HCH0 NCK5L_HUMAN NCK-associated protein 5-like 527 Pro-rich. central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(8)|prostate(2) 18 GCTGTGTGGAGTCTGGGGTTG 0.642000 10 26 0 0 1 0 0 CCDC141 285025 broad.mit.edu 37 2 179718276 179718276 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:179718276C>T ENST00000420890.2 - 20 3253 c.3136G>A c.(3136-3138)Gaa>Aaa p.E1046K CCDC141_ENST00000295723.5_Missense_Mutation_p.E471K NM_173648.3 NP_775919.3 Q6ZP82 CC141_HUMAN coiled-coil domain containing 141 471 protein binding NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1) 78 OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147) TTCACAGCTTCCTTTGTCTTG 0.423000 27 96 0 0 1 0 0 PITPNM3 83394 broad.mit.edu 37 17 6387594 6387594 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:6387594G>A ENST00000262483.8 - 5 380 c.293C>T c.(292-294)tCc>tTc p.S98F ACKR6_ENST00000421306.3_Missense_Mutation_p.S62F NM_031220.3 NP_112497.2 TCTTCTCAAGGAAACCCGGTA 0.597000 63 134 0 0 1 0 0 PRLR 5618 broad.mit.edu 37 5 35066046 35066046 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:35066046C>T ENST00000382002.5 - 10 1440 c.1014G>A c.(1012-1014)atG>atA p.M338I PRLR_ENST00000542609.1_Intron|PRLR_ENST00000310101.5_Intron|PRLR_ENST00000348262.3_Intron|PRLR_ENST00000511486.1_Missense_Mutation_p.M237I|PRLR_ENST00000513753.1_Intron|PRLR_ENST00000231423.3_Intron|PRLR_ENST00000342362.5_Missense_Mutation_p.M237I|PRLR_ENST00000397391.3_Intron NM_000949.5 NP_000940.1 P16471 PRLR_HUMAN prolactin receptor 338 activation of JAK2 kinase activity|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|embryo implantation|lactation|steroid biosynthetic process|T cell activation cell surface|extracellular region|integral to membrane metal ion binding|ornithine decarboxylase activator activity|peptide hormone binding|prolactin receptor activity|protein homodimerization activity central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 48 all_lung(31;3.83e-05) COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229) Dromostanolone(DB00858)|Fluoxymesterone(DB01185)|Pegvisomant(DB00082)|Somatropin recombinant(DB00052) ATGTGGGTTTCATACCTTGAC 0.493000 43 100 0 0 1 0 0 PCDHA8 56140 broad.mit.edu 37 5 140222761 140222761 + Missense_Mutation SNP C C T rs145175505 TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:140222761C>T ENST00000531613.1 + 1 1855 c.1855C>T c.(1855-1857)Cgc>Tgc p.R619C PCDHA8_ENST00000378123.3_Missense_Mutation_p.R619C|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron NM_018911.2 NP_061734.1 NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6) 78 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AAGCAGCCCTCGCATCCCGTT 0.672000 5 241 0 0 1 0 0 NYAP2 57624 broad.mit.edu 37 2 226447398 226447398 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:226447398G>A ENST00000272907.6 + 4 1678 c.1265G>A c.(1264-1266)cGa>cAa p.R422Q NYAP2_ENST00000409269.2_Intron NM_020864.1 NP_065915.1 Q9P242 K1486_HUMAN neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2 422 Pro-rich. ACGCTGTACCGAACCCAGTCT 0.662000 16 23 0 0 1 0 0 ZNF30 90075 broad.mit.edu 37 19 35434918 35434918 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:35434918G>A ENST00000439785.1 + 5 1495 c.1051G>A c.(1051-1053)Gga>Aga p.G351R ZNF30_ENST00000303586.7_Missense_Mutation_p.G351R|ZNF30_ENST00000601957.1_3'UTR|ZNF30_ENST00000426813.2_Missense_Mutation_p.G269R|ZNF30_ENST00000601142.1_Missense_Mutation_p.G350R NM_001099438.1 NP_001092908.1 P17039 ZNF30_HUMAN zinc finger protein 30 350 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(2) 16 all_lung(56;8.38e-08)|Lung NSC(56;1.31e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0849) GBM - Glioblastoma multiforme(1328;0.0265) TAAGGAATGTGGAAAGGCCTT 0.448000 4 112 0 0 1 0 0 ZNF599 148103 broad.mit.edu 37 19 35251100 35251100 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:35251100C>T ENST00000329285.7 - 4 979 c.606G>A c.(604-606)acG>acA p.T202T NM_001007248.2 NP_001007249.1 Q96NL3 ZN599_HUMAN zinc finger protein 599 202 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.T202T(1) endometrium(3)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|skin(1) 24 all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.138) TCCCACATTCCGTGCATGTGT 0.498000 51 170 0 0 1 0 0 LY6K 54742 broad.mit.edu 37 8 143781960 143781960 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:143781960C>T ENST00000522591.1 + 1 71 c.15C>T c.(13-15)gcC>gcT p.A5A LY6K_ENST00000292430.6_Silent_p.A5A|LY6K_ENST00000519387.1_Silent_p.A5A|LY6K_ENST00000518841.1_Silent_p.A5A|LY6K_ENST00000561179.1_Silent_p.A63A Q17RY6 LY6K_HUMAN lymphocyte antigen 6 complex, locus K 5 anchored to membrane|cytoplasm|extracellular region|nucleolus|plasma membrane NS(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4) 10 all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155) CGCTGCTCGCCTTGCTGCTGG 0.706000 9 13 0 0 1 0 0 COL15A1 1306 broad.mit.edu 37 9 101806860 101806860 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:101806860G>A ENST00000375001.3 + 25 3008 c.2585G>A c.(2584-2586)gGa>gAa p.G862E NM_001855.3 NP_001846.3 P39059 COFA1_HUMAN collagen, type XV, alpha 1 862 Triple-helical region 4 (COL4). angiogenesis|cell differentiation|signal transduction collagen type XV|extracellular space|integral to membrane binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 107 Acute lymphoblastic leukemia(62;0.0562) GGCGAGAAGGGAGAGCCGGGT 0.527000 26 74 0 0 1 0 0 EMILIN3 90187 broad.mit.edu 37 20 39991438 39991438 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr20:39991438C>T ENST00000332312.3 - 4 963 c.771G>A c.(769-771)gaG>gaA p.E257E NM_052846.1 NP_443078.1 Q9NT22 EMIL3_HUMAN elastin microfibril interfacer 3 257 proteinaceous extracellular matrix biliary_tract(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(3)|urinary_tract(2) 30 Myeloproliferative disorder(115;0.00425) TGTTGCTCACCTCTGTCACCT 0.607000 30 69 0 0 1 0 0 AOC1 26 broad.mit.edu 37 7 150558103 150558103 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:150558103C>T ENST00000493429.1 + 7 2646 c.2062C>T c.(2062-2064)Cct>Tct p.P688S AOC1_ENST00000467291.1_Missense_Mutation_p.P688S|AOC1_ENST00000416793.2_Missense_Mutation_p.P707S|AOC1_ENST00000480582.1_3'UTR|AOC1_ENST00000360937.4_Missense_Mutation_p.P688S amine oxidase, copper containing 1 p.P688A(1) CACAGCCACACCTGGGAACTC 0.622000 42 124 0 0 1 0 0 PKD1L2 114780 broad.mit.edu 37 16 81253781 81253781 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr16:81253781G>A ENST00000599697.1 - 1 194 c.195C>T c.(193-195)ttC>ttT p.F65F PKD1L2_ENST00000337114.4_RNA|PKD1L2_ENST00000525539.1_RNA Q7Z442 PK1L2_HUMAN polycystic kidney disease 1-like 2 65 C-type lectin. neuropeptide signaling pathway integral to membrane calcium ion binding|ion channel activity|sugar binding breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 CGTCCTGAATGAAGACCAAAT 0.557000 52 52 0 0 1 0 0 OSCP1 127700 broad.mit.edu 37 1 36883803 36883803 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:36883803C>T ENST00000356637.5 - 11 1170 c.1107G>A c.(1105-1107)acG>acA p.T369T OSCP1_ENST00000315643.9_Intron|OSCP1_ENST00000495222.1_5'UTR|OSCP1_ENST00000235532.5_Silent_p.T359T|OSCP1_ENST00000433045.2_Silent_p.T314T Q8WVF1 OSCP1_HUMAN organic solute carrier partner 1 369 transport basal plasma membrane NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1) 22 TTGGCTGCTCCGTGATCTCAA 0.572000 14 37 0 0 1 0 0 CCDC146 57639 broad.mit.edu 37 7 76903817 76903817 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:76903817G>A ENST00000285871.4 + 11 1415 c.1288G>A c.(1288-1290)Gag>Aag p.E430K CCDC146_ENST00000431197.1_Missense_Mutation_p.E144K|CCDC146_ENST00000415740.2_3'UTR NM_020879.2 NP_065930.2 Q8IYE0 CC146_HUMAN coiled-coil domain containing 146 430 breast(3)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(2) 34 all_cancers(73;0.128)|all_lung(88;0.0986)|all_epithelial(88;0.163)|Myeloproliferative disorder(862;0.205) ATCAGAAATGGAGTCTAAGTT 0.303000 6 28 0 0 1 0 0 ATP2A3 489 broad.mit.edu 37 17 3844564 3844564 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:3844564C>T ENST00000309890.7 - 14 1951 c.1801G>A c.(1801-1803)Gac>Aac p.D601N ATP2A3_ENST00000359983.3_Missense_Mutation_p.D601N|ATP2A3_ENST00000397039.1_5'UTR|ATP2A3_ENST00000397041.3_Missense_Mutation_p.D601N|ATP2A3_ENST00000397035.3_Missense_Mutation_p.D601N|ATP2A3_ENST00000352011.3_Missense_Mutation_p.D601N|ATP2A3_ENST00000397043.3_Missense_Mutation_p.D601N NM_174953.2|NM_174954.2|NM_174955.2|NM_174956.2 NP_777613.1|NP_777614.1|NP_777615.1|NP_777616.1 Q93084 AT2A3_HUMAN ATPase, Ca++ transporting, ubiquitous 601 ATP biosynthetic process|platelet activation integral to membrane|nuclear membrane|platelet dense tubular network membrane|sarcoplasmic reticulum membrane ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1) 36 LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766) CGCGGCGGGTCCAGCATGCCT 0.652000 41 88 0 0 1 0 0 ENPP4 22875 broad.mit.edu 37 6 46111251 46111251 + Silent SNP C C T rs145644328 TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:46111251C>T ENST00000321037.4 + 4 1466 c.1236C>T c.(1234-1236)atC>atT p.I412I NM_014936.4 NP_055751.1 Q9Y6X5 ENPP4_HUMAN ectonucleotide pyrophosphatase/phosphodiesterase 4 (putative) 412 integral to membrane hydrolase activity central_nervous_system(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 18 CGATTGTTATCGGTTCACTCT 0.418000 75 230 0 0 1 0 0 CD1E 913 broad.mit.edu 37 1 158326659 158326659 + Nonsense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:158326659G>A ENST00000444681.2 + 5 1136 c.843G>A c.(841-843)tgG>tgA p.W281* CD1E_ENST00000368156.1_Nonsense_Mutation_p.W278*|CD1E_ENST00000452291.2_Nonsense_Mutation_p.W191*|CD1E_ENST00000368166.3_Nonsense_Mutation_p.W179*|CD1E_ENST00000368165.3_Nonsense_Mutation_p.W290*|CD1E_ENST00000368160.3_Nonsense_Mutation_p.W368*|CD1E_ENST00000368157.1_Nonsense_Mutation_p.W124*|CD1E_ENST00000368155.3_Nonsense_Mutation_p.W223*|CD1E_ENST00000368167.3_Nonsense_Mutation_p.W380*|CD1E_ENST00000368154.1_Nonsense_Mutation_p.W136*|CD1E_ENST00000368164.3_3'UTR|CD1E_ENST00000368161.3_3'UTR|CD1E_ENST00000368163.3_Nonsense_Mutation_p.W313* NM_001185114.1 NP_001172043.1 P15812 CD1E_HUMAN CD1e molecule 380 Ig-like. antigen processing and presentation|immune response early endosome|Golgi membrane|integral to plasma membrane|late endosome|lysosomal lumen p.W380*(1) breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1) 49 all_hematologic(112;0.0378) TGAAGAAGTGGAAGACACGCC 0.428000 38 110 0 0 1 0 0 COL4A4 1286 broad.mit.edu 37 2 227915865 227915865 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:227915865C>T ENST00000396625.3 - 33 3185 c.2978G>A c.(2977-2979)gGa>gAa p.G993E COL4A4_ENST00000329662.7_Missense_Mutation_p.G993E NM_000092.4 NP_000083.3 P53420 CO4A4_HUMAN collagen, type IV, alpha 4 993 Triple-helical region. axon guidance|glomerular basement membrane development basal lamina|collagen type IV extracellular matrix structural constituent|protein binding breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 98 Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242) Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181) CCCGGGAGTTCCTTTATCACC 0.502000 55 97 0 0 1 0 0 OR8B3 390271 broad.mit.edu 37 11 124266558 124266558 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:124266558G>A ENST00000354597.3 - 1 706 c.690C>T c.(688-690)tcC>tcT p.S230S NM_001005467.1 NP_001005467.1 Q8NGG8 OR8B3_HUMAN olfactory receptor, family 8, subfamily B, member 3 230 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 14 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277) TTCCTTGAGTGGATTTGATAT 0.368000 41 56 0 0 1 0 0 RPS15A 6210 broad.mit.edu 37 16 18794349 18794349 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr16:18794349G>A ENST00000322989.4 - 5 470 c.375C>T c.(373-375)atC>atT p.I125I RPS15A_ENST00000565420.1_Silent_p.I125I|RPS15A_ENST00000576436.1_3'UTR|RPS15A_ENST00000563390.1_Silent_p.I125I|RPS15A_ENST00000575669.1_5'UTR NM_001019.4 NP_001010.2 P62244 RS15A_HUMAN ribosomal protein S15a 125 endocrine pancreas development|positive regulation of cell cycle|positive regulation of cell proliferation|response to virus|translational elongation|translational termination|viral transcription cytosolic small ribosomal subunit protein binding|RNA binding|structural constituent of ribosome endometrium(1)|large_intestine(1) 2 AGAATCCCAGGATTTTCCCTC 0.413000 32 57 0 0 1 0 0 CALCR 799 broad.mit.edu 37 7 93055899 93055899 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:93055899G>A ENST00000359558.2 - 16 1595 c.1296C>T c.(1294-1296)gtC>gtT p.V432V CALCR_ENST00000394441.1_Silent_p.V398V|CALCR_ENST00000421592.1_Silent_p.V414V|CALCR_ENST00000360249.4_Silent_p.V414V|CALCR_ENST00000426151.1_Silent_p.V398V NM_001164737.1 NP_001158209.1 P30988 CALCR_HUMAN calcitonin receptor 414 activation of adenylate cyclase activity by G-protein signaling pathway|elevation of cytosolic calcium ion concentration|positive regulation of adenylate cyclase activity|response to glucocorticoid stimulus integral to plasma membrane calcitonin binding|calcitonin receptor activity|protein binding p.V432V(1)|p.V398V(1) NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(3) 45 all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207) STAD - Stomach adenocarcinoma(171;0.000244) Salmon Calcitonin(DB00017) CGGTGGTTTGGACCTGGAAGA 0.493000 31 93 0 0 1 0 0 OR6C2 341416 broad.mit.edu 37 12 55846809 55846809 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:55846809G>A ENST00000322678.1 + 1 812 c.812G>A c.(811-813)gGa>gAa p.G271E RP11-110A12.2_ENST00000555138.1_RNA|RP11-110A12.2_ENST00000556750.1_RNA|RP11-110A12.2_ENST00000555146.1_RNA|RP11-110A12.2_ENST00000554049.1_RNA NM_054105.1 NP_473446.1 Q9NZP2 OR6C2_HUMAN olfactory receptor, family 6, subfamily C, member 2 271 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity kidney(2)|large_intestine(5)|lung(8)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 23 ATAAATAAAGGAGTTTCAGTT 0.423000 44 53 0 0 1 0 0 TREML2 79865 broad.mit.edu 37 6 41166166 41166166 + Splice_Site SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:41166166G>A ENST00000483722.1 - 2 242 c.55_splice c.e2-1 p.G19_splice NM_024807.2 NP_079083.2 Q5T2D2 TRML2_HUMAN triggering receptor expressed on myeloid cells-like 2 19 G -> C (in dbSNP:rs4418164). T cell activation cell surface|integral to membrane|plasma membrane protein binding|receptor activity breast(1)|central_nervous_system(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1) 18 Ovarian(28;0.0418)|Colorectal(47;0.196) CAGCAGAGGGGCCTGTGGAGA 0.478000 68 207 0 0 1 0 0 LAMC1 3915 broad.mit.edu 37 1 183099639 183099639 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:183099639C>T ENST00000258341.4 + 19 3698 c.3441C>T c.(3439-3441)atC>atT p.I1147I NM_002293.3 NP_002284.3 P11047 LAMC1_HUMAN laminin, gamma 1 (formerly LAMB2) 1147 Domain II and I. axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex extracellular matrix structural constituent NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3) 76 Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) TGATTGAAATCGCATCCAGAG 0.498000 29 98 0 0 1 0 0 PCBP1 5093 broad.mit.edu 37 2 70314922 70314922 + Missense_Mutation SNP T T C TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:70314922T>C ENST00000303577.5 + 1 338 c.47T>C c.(46-48)aTt>aCt p.I16T PCBP1-AS1_ENST00000596028.1_RNA|PCBP1-AS1_ENST00000452431.1_RNA|PCBP1-AS1_ENST00000413436.1_RNA|PCBP1-AS1_ENST00000423402.1_RNA NM_006196.3 NP_006187.2 Q15365 PCBP1_HUMAN poly(rC) binding protein 1 16 KH 1. nuclear mRNA splicing, via spliceosome cytoplasm|nucleoplasm|ribonucleoprotein complex protein binding|RNA binding|single-stranded DNA binding p.I16N(1) endometrium(2)|kidney(1)|large_intestine(6)|lung(2)|skin(1) 12 ACTCTCACCATTCGGCTTCTT 0.562000 63 135 0 0 1 0 0 CDCA2 157313 broad.mit.edu 37 8 25365085 25365085 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:25365085C>T ENST00000330560.3 + 15 3380 c.2903C>T c.(2902-2904)tCc>tTc p.S968F CDCA2_ENST00000521098.2_3'UTR|CDCA2_ENST00000380665.3_Missense_Mutation_p.S953F NM_152562.2 NP_689775.2 Q69YH5 CDCA2_HUMAN cell division cycle associated 2 968 cell division|mitosis cytoplasm|nucleus breast(3)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(7)|lung(10)|ovary(1)|prostate(3) 35 all_cancers(63;0.0378)|Ovarian(32;0.000878)|all_epithelial(46;0.0162)|Breast(100;0.0164)|Prostate(55;0.191) UCEC - Uterine corpus endometrioid carcinoma (27;0.022)|Epithelial(17;1.37e-11)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0443) GCTGGTTCTTCCGATGAACCT 0.483000 10 275 0 0 1 0 0 TNNI3K 51086 broad.mit.edu 37 1 74905285 74905285 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:74905285C>T ENST00000370891.2 + 22 2309 c.2293C>T c.(2293-2295)Cca>Tca p.P765S TNNI3K_ENST00000326637.3_Missense_Mutation_p.P664S|FPGT-TNNI3K_ENST00000370899.3_Missense_Mutation_p.P765S|FPGT-TNNI3K_ENST00000557284.1_Missense_Mutation_p.P765S NM_001112808.2 NP_001106279.1 TNNI3 interacting kinase cervix(1)|endometrium(3)|kidney(5)|large_intestine(21)|lung(31)|ovary(4)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3) 76 TGGCGAAATTCCATTCGCTCA 0.423000 33 90 0 0 1 0 0 ZSWIM4 65249 broad.mit.edu 37 19 13941605 13941605 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:13941605C>T ENST00000254323.2 + 13 2900 c.2711C>T c.(2710-2712)cCa>cTa p.P904L ZSWIM4_ENST00000440752.2_Missense_Mutation_p.P738L NM_023072.2 NP_075560.2 Q9H7M6 ZSWM4_HUMAN zinc finger, SWIM-type containing 4 904 zinc ion binding central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 27 OV - Ovarian serous cystadenocarcinoma(19;2.94e-23)|Epithelial(5;4.58e-19) GCCGCCAAGCCACTGGGTGCC 0.711000 40 62 0 0 1 0 0 ANK3 288 broad.mit.edu 37 10 61828457 61828457 + Missense_Mutation SNP G G T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:61828457G>T ENST00000280772.1 - 37 12373 c.12182C>A c.(12181-12183)gCa>gAa p.A4061E ANK3_ENST00000355288.2_Intron|ANK3_ENST00000503366.1_Intron|ANK3_ENST00000373827.2_Intron NM_020987.3 NP_066267.2 Q12955 ANK3_HUMAN ankyrin 3, node of Ranvier (ankyrin G) 4061 establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 196 TAAAGGTGCTGCCTCTGTTTT 0.502000 74 141 1.12115e-39 1.13503e-39 1 1 0 MYPN 84665 broad.mit.edu 37 10 69881830 69881830 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:69881830C>T ENST00000358913.5 + 2 1123 c.635C>T c.(634-636)cCc>cTc p.P212L MYPN_ENST00000373675.3_Missense_Mutation_p.P212L|MYPN_ENST00000354393.2_Intron|MYPN_ENST00000540630.1_Missense_Mutation_p.P212L NM_001256267.1|NM_032578.3 NP_001243196.1|NP_115967.2 Q86TC9 MYPN_HUMAN myopalladin 212 Interaction with CARP. nucleus|sarcomere actin binding breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5) 94 TCTTCTGTTCCCATCCCTATC 0.488000 19 46 0 0 1 0 0 KCNH8 131096 broad.mit.edu 37 3 19295330 19295330 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:19295330G>A ENST00000328405.2 + 2 527 c.261G>A c.(259-261)ctG>ctA p.L87L NM_144633.2 NP_653234.2 Q96L42 KCNH8_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 8 87 PAS. integral to membrane two-component sensor activity NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 77 AAAAGTCACTGGAGGAGAAAA 0.423000 6 177 0 0 1 0 0 TAS2R1 50834 broad.mit.edu 37 5 9629301 9629301 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:9629301G>A ENST00000382492.2 - 1 1162 c.844C>T c.(844-846)Cct>Tct p.P282S CTD-2001E22.1_ENST00000504182.2_RNA NM_019599.2 NP_062545.1 Q9NYW7 TA2R1_HUMAN taste receptor, type 2, member 1 282 chemosensory behavior|sensory perception of taste integral to membrane taste receptor activity breast(5)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(19)|ovary(3)|prostate(1)|skin(1)|stomach(1) 39 TTCAATTTAGGATTTCCTAAA 0.363000 42 48 0 0 1 0 0 PCDHB7 56129 broad.mit.edu 37 5 140554503 140554503 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:140554503C>T ENST00000231137.3 + 1 2261 c.2087C>T c.(2086-2088)tCt>tTt p.S696F NM_018940.2 NP_061763.1 Q9Y5E2 PCDB7_HUMAN 696 calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1) 119 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GCCTCGGTGTCTTCGCTCTTC 0.716000 70 300 0 0 1 0 0 SCN5A 6331 broad.mit.edu 37 3 38620951 38620951 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:38620951G>A ENST00000413689.1 - 18 3457 c.3264C>T c.(3262-3264)gcC>gcT p.A1088A SCN5A_ENST00000443581.1_Silent_p.A1087A|SCN5A_ENST00000451551.2_Intron|SCN5A_ENST00000414099.2_Silent_p.A1088A|SCN5A_ENST00000423572.2_Silent_p.A1087A|SCN5A_ENST00000450102.2_Intron|SCN5A_ENST00000449557.2_Intron|SCN5A_ENST00000333535.4_Silent_p.A1088A|SCN5A_ENST00000455624.2_Silent_p.A1087A|SCN5A_ENST00000425664.1_Silent_p.A1088A NM_001099404.1|NM_001160160.1 NP_001092874.1|NP_001153632.1 Q14524 SCN5A_HUMAN sodium channel, voltage-gated, type V, alpha subunit 1088 A -> G (in Ref. 1; AAA58644 and 5; BAD12084). blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction sarcolemma|voltage-gated sodium channel complex protein binding|voltage-gated sodium channel activity NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4) 107 Medulloblastoma(35;0.163) KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1) Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661) AATCCGGAGGGGCCTCTGGGC 0.657000 16 32 0 0 1 0 0 GPX5 2880 broad.mit.edu 37 6 28497338 28497338 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:28497338C>T ENST00000412168.2 + 2 287 c.198C>T c.(196-198)ttC>ttT p.F66F GPX5_ENST00000442674.2_3'UTR|GPX5_ENST00000469384.1_Silent_p.F66F NM_001509.2 NP_001500.1 O75715 GPX5_HUMAN glutathione peroxidase 5 (epididymal androgen-related protein) 66 lipid metabolic process|response to oxidative stress extracellular region glutathione peroxidase activity endometrium(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 16 Glutathione(DB00143) ACATCCTCTTCGTCAACGTGG 0.428000 46 104 0 0 1 0 0 SLIT2 9353 broad.mit.edu 37 4 20493491 20493491 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:20493491C>T ENST00000504154.1 + 9 1135 c.883C>T c.(883-885)Ccc>Tcc p.P295S SLIT2_ENST00000273739.5_Missense_Mutation_p.P299S|SLIT2_ENST00000503823.1_Missense_Mutation_p.P295S|SLIT2_ENST00000503837.1_Missense_Mutation_p.P299S NM_004787.1 NP_004778.1 O94813 SLIT2_HUMAN slit homolog 2 (Drosophila) 295 LRRNT 2. apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development cell surface|cytoplasm|extracellular space|plasma membrane calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1) 116 CACTGAGATCCCCACAAATCT 0.458000 4 125 0 0 1 0 0 SMARCA2 6595 broad.mit.edu 37 9 2081995 2081995 + Splice_Site SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:2081995C>T ENST00000382203.1 + 15 2557 c.2348_splice c.e15+1 p.S783_splice SMARCA2_ENST00000357248.2_Splice_Site_p.S783_splice|SMARCA2_ENST00000382194.1_Splice_Site_p.S783_splice|SMARCA2_ENST00000349721.2_Splice_Site_p.S783_splice P51531 SMCA2_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 783 Helicase ATP-binding. chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 56 all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09) GBM - Glioblastoma multiforme(50;0.0475) GTTCCCCTTTCGTAAGTAAAG 0.408000 87 61 0 0 1 0 0 ARHGAP25 9938 broad.mit.edu 37 2 69034503 69034503 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:69034503C>T ENST00000295381.3 + 5 981 c.562C>T c.(562-564)Ctg>Ttg p.L188L ARHGAP25_ENST00000497079.1_Silent_p.L182L|ARHGAP25_ENST00000409202.3_Silent_p.L189L|ARHGAP25_ENST00000409220.1_Silent_p.L182L|ARHGAP25_ENST00000544262.1_Silent_p.L163L|ARHGAP25_ENST00000467265.1_Silent_p.L149L|ARHGAP25_ENST00000456116.2_3'UTR|ARHGAP25_ENST00000409030.3_Silent_p.L181L NM_001007231.2 NP_001007232.2 P42331 RHG25_HUMAN Rho GTPase activating protein 25 188 Rho-GAP. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(20)|ovary(3)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1) 52 AGAGTTCATCCTGGAGCACGG 0.582000 4 98 0 0 1 0 0 OSMR 9180 broad.mit.edu 37 5 38925348 38925348 + Missense_Mutation SNP A A C TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:38925348A>C ENST00000274276.3 + 15 2489 c.2087A>C c.(2086-2088)gAa>gCa p.E696A NM_003999.2 NP_003990.1 Q99650 OSMR_HUMAN oncostatin M receptor 696 Fibronectin type-III 4. cell proliferation|positive regulation of cell proliferation oncostatin-M receptor complex growth factor binding|oncostatin-M receptor activity NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 46 all_lung(31;0.000365) AACCCGGAAGAAAAGGCATTG 0.363000 50 346 0 0 1 0 0 CHST9 83539 broad.mit.edu 37 18 24628466 24628466 + Splice_Site SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr18:24628466C>T ENST00000284224.8 - 3 400 c.121_splice c.e3-1 p.G41_splice CHST9_ENST00000580774.1_Splice_Site_p.G41_splice|CHST9_ENST00000581714.1_Splice_Site_p.G41_splice|AQP4-AS1_ENST00000578701.1_RNA NM_031422.5 NP_113610.2 Q7L1S5 CHST9_HUMAN carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 9 41 carbohydrate biosynthetic process|glycosaminoglycan metabolic process|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process extracellular region|Golgi membrane|integral to membrane N-acetylgalactosamine 4-O-sulfotransferase activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|skin(3) 28 all_lung(6;0.0145)|Ovarian(20;0.124) TCTCCACTCTCCCTGAAATGA 0.358000 8 82 0 0 1 0 0 CALM3 808 broad.mit.edu 37 19 47111767 47111767 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:47111767C>T ENST00000291295.9 + 4 406 c.207C>T c.(205-207)ttC>ttT p.F69F CALM3_ENST00000599839.1_Silent_p.F33F|CALM3_ENST00000594523.1_Silent_p.F33F|CALM3_ENST00000597743.1_Intron|CALM3_ENST00000391918.2_Silent_p.F33F|CALM3_ENST00000477244.1_3'UTR|CALM3_ENST00000598871.1_Silent_p.F33F|CALM3_ENST00000596362.1_Silent_p.F69F NM_005184.2 NP_005175.2 P62158 CALM_HUMAN calmodulin 3 (phosphorylase kinase, delta) 69 EF-hand 2. activation of phospholipase C activity|G-protein coupled receptor protein signaling pathway|glucose metabolic process|glycogen catabolic process|muscle contraction|negative regulation of ryanodine-sensitive calcium-release channel activity|nerve growth factor receptor signaling pathway|nitric oxide metabolic process|platelet activation|platelet degranulation|positive regulation of ryanodine-sensitive calcium-release channel activity|regulation of cytokinesis|regulation of nitric-oxide synthase activity|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to calcium ion|synaptic transmission centrosome|cytosol|extracellular region|nucleoplasm|plasma membrane|spindle microtubule|spindle pole calcium ion binding|N-terminal myristoylation domain binding|phospholipase binding|protein domain specific binding|thioesterase binding|titin binding breast(1)|cervix(2)|endometrium(1)|lung(1)|ovary(1) 6 Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212) OV - Ovarian serous cystadenocarcinoma(262;0.000338)|all cancers(93;0.000683)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0341) Aprindine(DB01429)|Bepridil(DB01244)|Dibucaine(DB00527)|Felodipine(DB01023)|Flunarizine(DB04841)|Fluphenazine(DB00623)|Isoflurane(DB00753)|Loperamide(DB00836)|Miconazole(DB01110)|Perphenazine(DB00850)|Phenoxybenzamine(DB00925)|Pimozide(DB01100)|Promethazine(DB01069) TCCCGGAGTTCCTGACCATGA 0.577000 8 108 0 0 1 0 0 KRT36 8689 broad.mit.edu 37 17 39643989 39643989 + Splice_Site SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:39643989C>T ENST00000393986.2 - 5 762 c.549_splice c.e5-1 p.E184_splice KRT36_ENST00000328119.6_Splice_Site_p.E234_splice O76013 KRT36_HUMAN keratin 36 234 Coil 1B.|Rod. intermediate filament protein binding|structural constituent of epidermis breast(2)|cervix(1)|kidney(2)|large_intestine(3)|lung(8)|skin(1) 17 Breast(137;0.000286) ACACTGACTTCCTGCAGAGAG 0.522000 38 60 0 0 1 0 0 AIRE 326 broad.mit.edu 37 21 45713771 45713771 + Missense_Mutation SNP C C T rs55840791 TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr21:45713771C>T ENST00000291582.5 + 11 1505 c.1378C>T c.(1378-1380)Cca>Tca p.P460S AIRE_ENST00000329347.4_Silent_p.S225S|AIRE_ENST00000355347.4_Missense_Mutation_p.P253S NM_000383.3 NP_000374.1 O43918 AIRE_HUMAN autoimmune regulator 460 CGDGTDVLRCTHCAAAFHWRCHFPAGTSRPG -> W (in Ref. 3; CAA08759). positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus chromatin binding|histone binding|transcription regulatory region DNA binding|translation regulator activity|zinc ion binding breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|skin(2)|urinary_tract(1) 14 Colorectal(79;0.0806) CTGCCACTTCCCAGCCGGCAC 0.697000 Autoimmune PolyEndocrinopathy Candidiasis Ectodermal Dystrophy 20 32 0 0 1 0 0 FRMPD3 84443 broad.mit.edu 37 X 106769952 106769952 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chrX:106769952G>A ENST00000276185.4 + 3 233 c.233G>A c.(232-234)cGa>cAa p.R78Q FRMPD3-AS1_ENST00000415252.1_RNA Q5JV73 FRPD3_HUMAN FERM and PDZ domain containing 3 78 PDZ. cytoskeleton breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(16)|ovary(2)|urinary_tract(1) 28 GTGGTGGTTCGATCTGTGAGG 0.557000 41 18 0 0 1 0 0 ASH2L 9070 broad.mit.edu 37 8 37986290 37986290 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:37986290C>T ENST00000343823.6 + 12 1657 c.1348C>T c.(1348-1350)Cct>Tct p.P450S ASH2L_ENST00000545394.1_Missense_Mutation_p.P311S|ASH2L_ENST00000521652.1_Missense_Mutation_p.P356S|ASH2L_ENST00000428278.2_Missense_Mutation_p.P356S|ASH2L_ENST00000250635.7_Missense_Mutation_p.P356S NM_004674.4 NP_004665.2 Q9UBL3 ASH2L_HUMAN ash2 (absent, small, or homeotic)-like (Drosophila) 450 B30.2/SPRY. hemopoiesis|histone H3-K4 methylation|positive regulation of cell proliferation|regulation of transcription, DNA-dependent|response to estrogen stimulus|transcription from RNA polymerase II promoter Set1C/COMPASS complex metal ion binding|protein binding|transcription regulatory region DNA binding NS(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|stomach(1) 19 Colorectal(12;0.000501) Lung NSC(58;0.0295)|all_lung(54;0.0413) CCTTCAAGCTCCTTTAGGTTA 0.398000 5 191 0 0 1 0 0 IL4 3565 broad.mit.edu 37 5 132018217 132018217 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:132018217G>A ENST00000231449.2 + 4 465 c.400G>A c.(400-402)Gaa>Aaa p.E134K IL4_ENST00000350025.2_Missense_Mutation_p.E118K NM_000589.3 NP_000580.1 P05112 IL4_HUMAN interleukin 4 134 B cell differentiation|cellular defense response|chemotaxis|cholesterol metabolic process|connective tissue growth factor biosynthetic process|negative regulation of apoptosis|negative regulation of osteoclast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of B cell proliferation|positive regulation of interleukin-13 production|positive regulation of isotype switching to IgE isotypes|positive regulation of isotype switching to IgG isotypes|positive regulation of MHC class II biosynthetic process|positive regulation of T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|T-helper 2 cell cytokine production extracellular space cytokine activity|growth factor activity|interleukin-4 receptor binding NS(1)|large_intestine(3)|lung(3)|prostate(1) 8 all_cancers(142;2.81e-05)|all_lung(232;1.47e-05)|Lung NSC(810;2.31e-05)|all_neural(839;0.0459)|Ovarian(839;0.0481)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) GBM - Glioblastoma multiforme(465;0.00245) GAGTACGTTGGAAAACTTCTT 0.363000 22 65 0 0 1 0 0 PSG2 5670 broad.mit.edu 37 19 43579640 43579640 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:43579640C>T ENST00000406487.1 - 3 673 c.575G>A c.(574-576)aGg>aAg p.R192K NM_031246.3 NP_112536.2 P11465 PSG2_HUMAN pregnancy specific beta-1-glycoprotein 2 192 Ig-like C2-type 1. cell migration|female pregnancy extracellular region central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(24)|ovary(1)|pancreas(2)|prostate(6)|stomach(2)|urinary_tract(2) 49 Prostate(69;0.00682) CAGCTGAAACCTATGAGTCAT 0.493000 167 326 0 0 1 0 0 LUM 4060 broad.mit.edu 37 12 91502045 91502045 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:91502045G>A ENST00000266718.4 - 2 1166 c.712C>T c.(712-714)Cac>Tac p.H238Y LUM_ENST00000548071.1_5'UTR NM_002345.3 NP_002336.1 P51884 LUM_HUMAN lumican 238 collagen fibril organization|visual perception extracellular space|fibrillar collagen collagen binding|extracellular matrix structural constituent central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|skin(1)|upper_aerodigestive_tract(1) 24 AGTTCGTTGTGAGATAAACGC 0.393000 46 92 0 0 1 0 0 FERMT1 55612 broad.mit.edu 37 20 6077677 6077677 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr20:6077677G>A ENST00000217289.4 - 8 1749 c.961C>T c.(961-963)Cac>Tac p.H321Y FERMT1_ENST00000536936.1_Missense_Mutation_p.H64Y NM_017671.4 NP_060141.3 Q9BQL6 FERM1_HUMAN fermitin family member 1 321 FERM. cell adhesion|establishment of epithelial cell polarity|keratinocyte migration|keratinocyte proliferation cytosol|focal adhesion|ruffle membrane binding NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2) 17 TTGCTAATGTGGTACTAAAAT 0.358000 96 199 0 0 1 0 0 APBA2 321 broad.mit.edu 37 15 29346544 29346544 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr15:29346544G>A ENST00000558402.1 + 5 1056 c.457G>A c.(457-459)Gag>Aag p.E153K APBA2_ENST00000558259.1_Missense_Mutation_p.E153K|APBA2_ENST00000561069.1_Missense_Mutation_p.E153K|APBA2_ENST00000411764.1_Missense_Mutation_p.E153K|APBA2_ENST00000558330.1_Missense_Mutation_p.E153K Q99767 APBA2_HUMAN amyloid beta (A4) precursor protein-binding, family A, member 2 153 nervous system development|protein transport protein binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1) 59 all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234) all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24) CCACGGCCACGAGGCTGAAGG 0.652000 6 68 0 0 1 0 0 CDHR3 222256 broad.mit.edu 37 7 105660969 105660969 + Missense_Mutation SNP T T A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:105660969T>A ENST00000542731.1 + 13 1912 c.1804T>A c.(1804-1806)Ttc>Atc p.F602I CDHR3_ENST00000343407.5_Intron|CDHR3_ENST00000317716.9_Missense_Mutation_p.F602I|CDHR3_ENST00000478080.1_Missense_Mutation_p.F514I|CDHR3_ENST00000470188.1_Intron Q6ZTQ4 CDHR3_HUMAN cadherin-related family member 3 602 Cadherin 6. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(1)|cervix(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(1) 23 CCCCAGATCTTTCCGTTATTC 0.488000 19 184 0 0 1 0 0 SLC25A53 401612 broad.mit.edu 37 X 103349344 103349344 + Silent SNP G G A rs139971743 byFrequency TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chrX:103349344G>A ENST00000357421.4 - 2 777 c.597C>T c.(595-597)atC>atT p.I199I NM_001012755.3 NP_001012773.2 Q5H9E4 MCAR6_HUMAN solute carrier family 25, member 53 199 transport integral to membrane|mitochondrial inner membrane GGCCATCCTGGATGGGGTCCT 0.557000 67 30 0 0 1 0 0 KIAA1755 85449 broad.mit.edu 37 20 36870218 36870218 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr20:36870218G>A ENST00000279024.4 - 3 586 c.315C>T c.(313-315)ttC>ttT p.F105F NM_001029864.1 NP_001025035.1 Q5JYT7 K1755_HUMAN KIAA1755 105 breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1) 54 Myeloproliferative disorder(115;0.00874) CTTGGAGGTAGAAGTCACCCT 0.562000 58 134 0 0 1 0 0 METTL13 51603 broad.mit.edu 37 1 171759631 171759631 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:171759631C>T ENST00000361735.3 + 5 1615 c.1349C>T c.(1348-1350)cCt>cTt p.P450L METTL13_ENST00000466643.1_Intron|METTL13_ENST00000362019.3_Missense_Mutation_p.P364L|METTL13_ENST00000458517.1_Missense_Mutation_p.P449L|METTL13_ENST00000367737.5_Missense_Mutation_p.P294L NM_015935.4 NP_057019.3 Q8N6R0 MTL13_HUMAN methyltransferase like 13 450 methyltransferase activity|protein binding breast(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(8)|lung(17)|stomach(3) 41 AAGCAGCGGCCTGCTGATGCG 0.532000 76 99 0 0 1 0 0 NLRP2 55655 broad.mit.edu 37 19 55502003 55502003 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:55502003G>A ENST00000543010.1 + 10 2814 c.2671G>A c.(2671-2673)Ggc>Agc p.G891S NLRP2_ENST00000263437.6_Missense_Mutation_p.G888S|NLRP2_ENST00000427260.2_Missense_Mutation_p.G868S|NLRP2_ENST00000537859.1_Missense_Mutation_p.G869S|NLRP2_ENST00000339757.7_Missense_Mutation_p.G869S|NLRP2_ENST00000538819.1_Missense_Mutation_p.G867S|NLRP2_ENST00000391721.4_Missense_Mutation_p.G867S|NLRP2_ENST00000586512.1_3'UTR|NLRP2_ENST00000448584.2_Missense_Mutation_p.G891S NM_001174081.1 NP_001167552.1 Q9NX02 NALP2_HUMAN NLR family, pyrin domain containing 2 891 apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion cytoplasm ATP binding|Pyrin domain binding large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3) 11 BRCA - Breast invasive adenocarcinoma(297;0.163) GBM - Glioblastoma multiforme(193;0.028) TCTGTGTGAGGGCTTGAGGTA 0.577000 7 109 0 0 1 0 0 PCSK1 5122 broad.mit.edu 37 5 95768739 95768739 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:95768739C>T ENST00000311106.3 - 1 245 c.8G>A c.(7-9)cGa>cAa p.R3Q CTD-2337A12.1_ENST00000502645.2_RNA NM_000439.4|NM_001177876.1 NP_000430.3|NP_001171347.1 P29120 NEC1_HUMAN proprotein convertase subtilisin/kexin type 1 3 cell-cell signaling|cellular nitrogen compound metabolic process|energy reserve metabolic process|hormone biosynthetic process|peptide biosynthetic process|peptide hormone processing|regulation of insulin secretion extracellular space|stored secretory granule|transport vesicle serine-type endopeptidase activity NS(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2) 36 all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244) all cancers(79;3.44e-16) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) CCAGGCTCTTCGCTCCATAGC 0.507000 76 145 0 0 1 0 0 KDM3A 55818 broad.mit.edu 37 2 86678263 86678263 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:86678263C>T ENST00000409556.1 + 5 745 c.380C>T c.(379-381)tCc>tTc p.S127F KDM3A_ENST00000542128.1_Missense_Mutation_p.S75F|KDM3A_ENST00000312912.5_Missense_Mutation_p.S127F|KDM3A_ENST00000409064.1_Missense_Mutation_p.S127F Q9Y4C1 KDM3A_HUMAN lysine (K)-specific demethylase 3A 127 androgen receptor signaling pathway|cell differentiation|formaldehyde biosynthetic process|histone H3-K9 demethylation|hormone-mediated signaling pathway|positive regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent cytoplasm|nucleus androgen receptor binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen NS(1)|breast(3)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(3)|skin(1)|stomach(3)|upper_aerodigestive_tract(2) 47 GGTTTGGGATCCATAACTTCT 0.358000 26 64 0 0 1 0 0 GAPT 202309 broad.mit.edu 37 5 57790489 57790489 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:57790489C>T ENST00000396776.2 + 3 588 c.126C>T c.(124-126)acC>acT p.T42T GAPT_ENST00000318469.2_Silent_p.T42T NM_152687.2 NP_689900.1 Q8N292 GAPT_HUMAN GRB2-binding adaptor protein, transmembrane 42 B cell activation integral to membrane|plasma membrane NS(1)|endometrium(2)|large_intestine(1)|lung(2)|skin(1) 7 CACGATTTACCTTACCGAGGT 0.448000 4 79 0 0 1 0 0 LMO3 55885 broad.mit.edu 37 12 16753612 16753612 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:16753612G>A ENST00000320122.6 - 2 705 c.183C>T c.(181-183)atC>atT p.I61I LMO3_ENST00000535535.1_Silent_p.I61I|LMO3_ENST00000537304.1_Silent_p.I61I|LMO3_ENST00000534946.1_Silent_p.I61I|LMO3_ENST00000441439.2_Silent_p.I61I|LMO3_ENST00000537568.1_Intron|LMO3_ENST00000261169.6_Silent_p.I72I|LMO3_ENST00000447609.1_Silent_p.I61I|LMO3_ENST00000541846.1_Silent_p.I61I|LMO3_ENST00000354662.1_Silent_p.I61I|LMO3_ENST00000541295.1_Silent_p.I79I|LMO3_ENST00000540848.1_Silent_p.I61I|LMO3_ENST00000540445.1_Intron NM_001243611.1 NP_001230540.1 Q8TAP4 LMO3_HUMAN LIM domain only 3 (rhombotin-like 2) 61 LIM zinc-binding 1. regulation of transcription, DNA-dependent|transcription, DNA-dependent zinc ion binding endometrium(2)|large_intestine(2)|skin(1) 5 Hepatocellular(102;0.244) TGCGACAAAGGATAAGATTAG 0.448000 30 47 0 0 1 0 0 OR13F1 138805 broad.mit.edu 37 9 107266928 107266928 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:107266928C>T ENST00000334726.2 + 1 474 c.385C>T c.(385-387)Ccc>Tcc p.P129S NM_001004485.1 NP_001004485.1 Q8NGS4 O13F1_HUMAN olfactory receptor, family 13, subfamily F, member 1 129 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 31 CATCTGCAACCCCCTGAGATA 0.552000 29 56 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179463999 179463999 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:179463999C>T ENST00000589042.1 - 290 56745 c.56521G>A c.(56521-56523)Gag>Aag p.E18841K TTN_ENST00000359218.5_Missense_Mutation_p.E9901K|TTN_ENST00000591111.1_Missense_Mutation_p.E17200K|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E16273K|TTN_ENST00000460472.2_Missense_Mutation_p.E9776K|TTN_ENST00000342175.6_Missense_Mutation_p.E9968K|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000419746.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 17200 Ig-like 107. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TACGTGCACTCCTTAGGTTCA 0.423000 21 162 0 0 1 0 0 RAI14 26064 broad.mit.edu 37 5 34823889 34823889 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:34823889C>T ENST00000265109.3 + 15 2229 c.1942C>T c.(1942-1944)Ctg>Ttg p.L648L RAI14_ENST00000397449.1_Silent_p.L641L|RAI14_ENST00000512629.1_Silent_p.L619L|RAI14_ENST00000503673.1_Silent_p.L648L|RAI14_ENST00000515799.1_Silent_p.L651L|RAI14_ENST00000506376.1_Silent_p.L640L|RAI14_ENST00000428746.2_Silent_p.L648L NM_001145522.1|NM_015577.2 NP_001138994.1|NP_056392.2 Q9P0K7 RAI14_HUMAN retinoic acid induced 14 648 cell cortex|cytoskeleton protein binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(19)|lung(22)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 56 all_lung(31;0.000191) GGTGAGCGAGCTGTCACAGCT 0.443000 35 87 0 0 1 0 0 ITGA5 3678 broad.mit.edu 37 12 54793496 54793496 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:54793496G>A ENST00000293379.4 - 27 3035 c.2774C>T c.(2773-2775)cCc>cTc p.P925L RP11-753H16.3_ENST00000550474.1_RNA|RP11-753H16.5_ENST00000552785.1_RNA NM_002205.2 NP_002196.2 P08648 ITA5_HUMAN integrin, alpha 5 (fibronectin receptor, alpha polypeptide) 925 angiogenesis|axon guidance|blood coagulation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|wound healing, spreading of epidermal cells alphav-beta3 integrin-vitronectin complex|integrin complex|ruffle platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2) 34 TTGGTGCAGGGGCCCGAGCTC 0.562000 OREG0021897 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 157 0 0 1 0 0 SLC18A1 6570 broad.mit.edu 37 8 20003318 20003318 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:20003318G>A ENST00000440926.1 - 17 2004 c.1534C>T c.(1534-1536)Cct>Tct p.P512S SLC18A1_ENST00000519026.1_Missense_Mutation_p.P480S|SLC18A1_ENST00000265808.7_Missense_Mutation_p.P480S|SLC18A1_ENST00000276373.5_Missense_Mutation_p.P512S|SLC18A1_ENST00000381608.4_Missense_Mutation_p.S467F|SLC18A1_ENST00000437980.1_Missense_Mutation_p.S467F NM_001135691.2 NP_001129163.1 P54219 VMAT1_HUMAN solute carrier family 18 (vesicular monoamine transporter), member 1 512 neurotransmitter transport clathrin sculpted monoamine transport vesicle membrane|integral to membrane|membrane fraction drug transmembrane transporter activity|monoamine transmembrane transporter activity central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1) 29 Colorectal(74;0.0747) TCCCCCAGAGGAAATTCCTTC 0.552000 12 62 0 0 1 0 0 NLRP13 126204 broad.mit.edu 37 19 56436372 56436372 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:56436372G>A ENST00000588751.1 - 2 373 c.349C>T c.(349-351)Cca>Tca p.P117S NLRP13_ENST00000342929.3_Missense_Mutation_p.P117S Q86W25 NAL13_HUMAN NLR family, pyrin domain containing 13 117 ATP binding NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1) 109 Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218) GBM - Glioblastoma multiforme(193;0.0642) TCCTGGGTTGGATCTTGCAGC 0.443000 25 51 0 0 1 0 0 CDC42BPB 9578 broad.mit.edu 37 14 103430944 103430944 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr14:103430944G>A ENST00000361246.2 - 19 2909 c.2621C>T c.(2620-2622)tCc>tTc p.S874F NM_006035.3 NP_006026.3 Q9Y5S2 MRCKB_HUMAN CDC42 binding protein kinase beta (DMPK-like) 874 actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction cell leading edge|cell-cell junction|cytoplasm|cytoskeleton ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1) 49 Melanoma(154;0.155) Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199) CAGCCGCGCGGACATGTCCAG 0.587000 23 38 0 0 1 0 0 OR10J5 127385 broad.mit.edu 37 1 159505034 159505034 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:159505034G>A ENST00000334857.2 - 1 808 c.764C>T c.(763-765)tCc>tTc p.S255F NM_001004469.1 NP_001004469.1 Q8NHC4 O10J5_HUMAN olfactory receptor, family 10, subfamily J, member 5 255 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 22 all_hematologic(112;0.0429) GTAGGCAATGGAGGCACAGCC 0.498000 24 87 0 0 1 0 0 GUCY2C 2984 broad.mit.edu 37 12 14849338 14849338 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:14849338G>A ENST00000261170.3 - 1 181 c.45C>T c.(43-45)ttC>ttT p.F15F RP11-174G6.1_ENST00000501178.2_RNA NM_004963.3 NP_004954.2 P25092 GUC2C_HUMAN guanylate cyclase 2C (heat stable enterotoxin receptor) 15 intracellular signal transduction|receptor guanylyl cyclase signaling pathway integral to membrane ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1) 51 ACCCGGGCTGGAAGAGCAGTG 0.527000 17 33 0 0 1 0 0 SOX6 55553 broad.mit.edu 37 11 16077298 16077298 + Splice_Site SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:16077298C>T ENST00000352083.6 - 10 1328 c.1251_splice c.e10+1 p.K417_splice SOX6_ENST00000396356.3_Splice_Site_p.K417_splice|SOX6_ENST00000527619.1_Splice_Site_p.K379_splice|SOX6_ENST00000316399.6_Splice_Site_p.K417_splice|SOX6_ENST00000528252.1_Splice_Site_p.K376_splice|SOX6_ENST00000528429.1_Splice_Site_p.K417_splice P35712 SOX6_HUMAN SRY (sex determining region Y)-box 6 417 muscle organ development nucleus sequence-specific DNA binding transcription factor activity NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|pancreas(1)|prostate(2) 43 GCGAGTGTACCTTAACTTGAG 0.448000 5 58 0 0 1 0 0 TNS3 64759 broad.mit.edu 37 7 47408077 47408077 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:47408077G>A ENST00000398879.1 - 17 2532 c.2166C>T c.(2164-2166)gcC>gcT p.A722A TNS3_ENST00000355730.3_Silent_p.A482A|TNS3_ENST00000311160.9_Silent_p.A722A Q68CZ2 TENS3_HUMAN tensin 3 722 focal adhesion protein binding NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 64 GGCTACCGAGGGCGTTCATGT 0.652000 78 168 0 0 1 0 0 LAMA2 3908 broad.mit.edu 37 6 129637084 129637084 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:129637084G>A ENST00000421865.2 + 26 3962 c.3913G>A c.(3913-3915)Gaa>Aaa p.E1305K NM_000426.3|NM_001079823.1 NP_000417.2|NP_001073291.1 P24043 LAMA2_HUMAN laminin, alpha 2 1305 Laminin IV type A 2. cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2) 194 OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245) GCATGAAATTGAAATGACAGA 0.398000 40 106 0 0 1 0 0 DEFB119 245932 broad.mit.edu 37 20 29966176 29966176 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr20:29966176C>T ENST00000339144.3 - 2 186 c.80G>A c.(79-81)gGa>gAa p.G27E DEFB119_ENST00000492344.1_5'UTR|DEFB119_ENST00000376321.3_Intron Q8N690 DB119_HUMAN defensin, beta 119 27 defense response to bacterium extracellular region large_intestine(2)|lung(1)|prostate(1) 4 all_hematologic(12;0.158) Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347) caggcagcatcccactgtcct 0.493000 63 124 0 0 1 0 0 CNNM4 26504 broad.mit.edu 37 2 97427504 97427504 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:97427504C>T ENST00000377075.2 + 1 866 c.768C>T c.(766-768)tcC>tcT p.S256S NM_020184.3 NP_064569.3 Q6P4Q7 CNNM4_HUMAN cyclin M4 256 DUF21. biomineral tissue development|ion transport|response to stimulus|visual perception integral to membrane|plasma membrane breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(2) 20 TCAACACCTCCCTCACAATCC 0.587000 37 125 0 0 1 0 0 ADM2 79924 broad.mit.edu 37 22 50921037 50921037 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr22:50921037G>A ENST00000395738.2 + 2 444 c.152G>A c.(151-153)aGg>aAg p.R51K ADM2_ENST00000362068.2_5'UTR|ADM2_ENST00000395737.1_Missense_Mutation_p.R51K NM_001253845.1|NM_024866.5 NP_001240774.1|NP_079142.2 Q7Z4H4 ADM2_HUMAN adrenomedullin 2 51 positive regulation of angiogenesis extracellular region hormone activity breast(1)|kidney(1) 2 all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247) CTGCAGCCCAGGCACCCCGCA 0.662000 8 7 0 0 1 0 0 CHRD 8646 broad.mit.edu 37 3 184102819 184102819 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:184102819C>T ENST00000204604.1 + 14 1857 c.1611C>T c.(1609-1611)ccC>ccT p.P537P CHRD_ENST00000450923.1_Silent_p.P537P|EIF2B5_ENST00000444495.1_Intron|CHRD_ENST00000545352.1_Silent_p.P167P|CHRD_ENST00000348986.3_Silent_p.P497P NM_003741.2 NP_003732.2 Q9H2X0 CHRD_HUMAN chordin 537 CHRD 4. BMP signaling pathway involved in spinal cord dorsal/ventral patterning|floor plate development|negative regulation of BMP signaling pathway|negative regulation of cell migration|positive regulation of cell adhesion|skeletal system development extracellular space cytokine binding NS(1)|biliary_tract(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(23)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 48 all_cancers(143;6.33e-11)|Ovarian(172;0.0339) Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) TGCCCGTGCCCCTAGCAGGAG 0.617000 84 221 0 0 1 0 0 ABCC9 10060 broad.mit.edu 37 12 21965012 21965012 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:21965012C>T ENST00000261200.4 - 34 4181 c.4182G>A c.(4180-4182)caG>caA p.Q1394Q ABCC9_ENST00000261201.4_Silent_p.Q1394Q|ABCC9_ENST00000345162.2_Silent_p.Q1358Q NM_020297.2 NP_064693.2 O60706 ABCC9_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 9 1394 ABC transporter 2. defense response to virus|potassium ion import ATP-sensitive potassium channel complex ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5) 118 Adenosine triphosphate(DB00171)|Glibenclamide(DB01016) GTATTGGATCCTGCAGAATGA 0.373000 5 116 0 0 1 0 0 WDFY3 23001 broad.mit.edu 37 4 85695995 85695995 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:85695995G>A ENST00000322366.6 - 29 5139 c.4732C>T c.(4732-4734)Cct>Tct p.P1578S WDFY3_ENST00000295888.4_Missense_Mutation_p.P1578S Q8IZQ1 WDFY3_HUMAN WD repeat and FYVE domain containing 3 1578 cytoplasmic part|extrinsic to membrane|nuclear envelope 1-phosphatidylinositol binding|metal ion binding|protein binding breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 134 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000808) TTGCTGCTAGGAAAACCTTGC 0.378000 4 92 0 0 1 0 0 RRAS2 22800 broad.mit.edu 37 11 14380321 14380321 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:14380321G>A ENST00000545643.1 - 1 409 c.96C>T c.(94-96)atC>atT p.I32I RRAS2_ENST00000256196.4_Silent_p.I32I|RRAS2_ENST00000537760.1_Intron|RRAS2_ENST00000529237.1_Intron NM_012250.5 NP_036382.2 P62070 RRAS2_HUMAN related RAS viral (r-ras) oncogene homolog 2 32 endoplasmic reticulum|plasma membrane GTP binding|GTPase activity|protein binding breast(3)|endometrium(4)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1) 12 Epithelial(150;0.203) GGATGAACTGGATGGTGAGCG 0.786000 11 12 0 0 1 0 0 CDYL2 124359 broad.mit.edu 37 16 80642033 80642033 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr16:80642033C>T ENST00000299564.8 - 6 1473 c.1318G>A c.(1318-1320)Gag>Aag p.E440K CDYL2_ENST00000562812.1_Missense_Mutation_p.E441K|CDYL2_ENST00000566173.1_Missense_Mutation_p.E441K|CDYL2_ENST00000563890.1_Missense_Mutation_p.E441K NM_152342.2 NP_689555.2 Q8N8U2 CDYL2_HUMAN chromodomain protein, Y-like 2 440 nucleus catalytic activity|protein binding breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1) 21 AGCATGACCTCCTGGCTGAAC 0.607000 6 6 0 0 1 0 0 CCL22 6367 broad.mit.edu 37 16 57394368 57394368 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr16:57394368G>A ENST00000219235.4 + 2 138 c.93G>A c.(91-93)atG>atA p.M31I NM_002990.4 NP_002981.2 O00626 CCL22_HUMAN chemokine (C-C motif) ligand 22 31 cell-cell signaling|chemotaxis|immune response|inflammatory response|response to virus|signal transduction extracellular space chemokine activity p.M31I(1) large_intestine(1)|lung(1)|prostate(1)|skin(1) 4 GCGCCAACATGGAAGACAGCG 0.642000 45 41 0 0 1 0 0 SLC38A9 153129 broad.mit.edu 37 5 54922451 54922451 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:54922451G>A ENST00000396865.2 - 16 2148 c.1557C>T c.(1555-1557)ttC>ttT p.F519F SLC38A9_ENST00000416547.2_Silent_p.F395F|SLC38A9_ENST00000512595.1_Silent_p.F456F|SLC38A9_ENST00000318672.3_Silent_p.F519F|SLC38A9_ENST00000515629.1_Silent_p.F456F|SLC38A9_ENST00000539768.1_3'UTR NM_173514.3 NP_775785.2 Q8NBW4 S38A9_HUMAN solute carrier family 38, member 9 519 amino acid transport|sodium ion transport integral to membrane endometrium(1)|kidney(1)|large_intestine(3)|lung(3) 8 Lung NSC(810;0.00122)|Prostate(74;0.0376)|Breast(144;0.181) ATGGGTATATGAATACAAAGG 0.383000 61 142 0 0 1 0 0 KIF2B 84643 broad.mit.edu 37 17 51900625 51900625 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:51900625C>T ENST00000268919.4 + 1 387 c.231C>T c.(229-231)ctC>ctT p.L77L NM_032559.4 NP_115948.4 Q8N4N8 KIF2B_HUMAN kinesin family member 2B 77 blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle ATP binding|microtubule motor activity NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 104 AGACCATACTCCTGCTGAATC 0.562000 12 288 0 0 1 0 0 MYH6 4624 broad.mit.edu 37 14 23858613 23858613 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr14:23858613C>T ENST00000405093.3 - 28 4037 c.3967G>A c.(3967-3969)Gag>Aag p.E1323K MYH6_ENST00000356287.3_Missense_Mutation_p.E1323K NM_002471.3 NP_002462.2 P13533 MYH6_HUMAN myosin, heavy chain 6, cardiac muscle, alpha 1323 adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 119 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441) TTGCCCTCCTCCTCCAGCTGC 0.607000 41 123 0 0 1 0 0 GCNT1 2650 broad.mit.edu 37 9 79117975 79117975 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:79117975C>T ENST00000442371.1 + 3 1617 c.678C>T c.(676-678)aaC>aaT p.N226N GCNT1_ENST00000376730.4_Silent_p.N226N|GCNT1_ENST00000444201.2_Silent_p.N226N|GCNT1_ENST00000536223.1_Silent_p.N226N NM_001097634.1 NP_001091103.1 Q02742 GCNT1_HUMAN glucosaminyl (N-acetyl) transferase 1, core 2 226 Catalytic (By similarity). protein O-linked glycosylation Golgi membrane|integral to membrane beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(11)|prostate(2)|urinary_tract(1) 30 TTAAAACCAACCTAGAAATTG 0.418000 26 52 0 0 1 0 0 CAB39 51719 broad.mit.edu 37 2 231683263 231683263 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:231683263C>T ENST00000258418.5 + 9 1299 c.870C>T c.(868-870)ccC>ccT p.P290P CAB39_ENST00000410084.3_Silent_p.P290P|CAB39_ENST00000409788.3_Silent_p.P290P NM_016289.3 NP_057373.1 Q9Y376 CAB39_HUMAN calcium binding protein 39 290 cell cycle arrest|insulin receptor signaling pathway|regulation of fatty acid oxidation cytosol kinase binding central_nervous_system(1)|large_intestine(1)|skin(1) 3 all_lung(227;4.63e-07)|all_hematologic(139;1.83e-06)|Lung NSC(271;2.11e-05)|Acute lymphoblastic leukemia(138;5.51e-05)|Hepatocellular(293;0.0207)|Lung SC(224;0.187) all cancers(144;1.64e-12)|Epithelial(121;5.29e-11)|LUSC - Lung squamous cell carcinoma(224;0.0154)|Lung(119;0.0177)|COAD - Colon adenocarcinoma(134;0.226) AGACGCAGCCCATCCTAGACA 0.522000 5 84 0 0 1 0 0 PXDN 7837 broad.mit.edu 37 2 1680705 1680705 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:1680705C>T ENST00000252804.4 - 8 892 c.842G>A c.(841-843)cGa>cAa p.R281Q NM_012293.1 NP_036425.1 Q92626 PXDN_HUMAN peroxidasin homolog (Drosophila) 281 Ig-like C2-type 1. extracellular matrix organization|hydrogen peroxide catabolic process|immune response endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 112 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716) all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228) TCACTTGTTTCGCAGCCAGAT 0.582000 5 16 0 0 1 0 0 GPATCH8 23131 broad.mit.edu 37 17 42477801 42477801 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:42477801G>A ENST00000434000.1 - 9 1692 c.1410C>T c.(1408-1410)gcC>gcT p.A470A GPATCH8_ENST00000591680.1_Silent_p.A548A Q9UKJ3 GPTC8_HUMAN G patch domain containing 8 548 intracellular nucleic acid binding|zinc ion binding breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 50 Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.206) GCCACTGGAGGGCAGTGCTTT 0.443000 OREG0024461 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 45 57 0 0 1 0 0 ABCB4 5244 broad.mit.edu 37 7 87083882 87083882 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:87083882G>A ENST00000265723.4 - 5 424 c.313C>T c.(313-315)Cca>Tca p.P105S ABCB4_ENST00000453593.1_Missense_Mutation_p.P105S|ABCB4_ENST00000545634.1_Missense_Mutation_p.P105S|ABCB4_ENST00000359206.3_Missense_Mutation_p.P105S|ABCB4_ENST00000358400.3_Missense_Mutation_p.P105S NM_000443.3|NM_018849.2 NP_000434.1|NP_061337.1 P21439 MDR3_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 4 105 ABC transmembrane type-1 1. cellular lipid metabolic process apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction ATP binding|xenobiotic-transporting ATPase activity breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 77 Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203) ATTTTGCCTGGATTTAGCAGC 0.269000 36 70 0 0 1 0 0 OR2T1 26696 broad.mit.edu 37 1 248569976 248569976 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:248569976C>T ENST00000366474.1 + 1 681 c.681C>T c.(679-681)ttC>ttT p.F227F NM_030904.1 NP_112166.1 O43869 OR2T1_HUMAN olfactory receptor, family 2, subfamily T, member 1 227 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 39 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) TTAACCACTTCTTCTGTGAGG 0.507000 68 52 0 0 1 0 0 IFT140 9742 broad.mit.edu 37 16 1570762 1570762 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr16:1570762G>A ENST00000426508.2 - 27 3864 c.3501C>T c.(3499-3501)acC>acT p.T1167T IFT140_ENST00000361339.5_Silent_p.T361T NM_014714.3 NP_055529.2 Q96RY7 IF140_HUMAN intraflagellar transport 140 homolog (Chlamydomonas) 1167 breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1) 53 Hepatocellular(780;0.219) CCATCTCCTCGGTGATGCTCA 0.622000 17 27 0 0 1 0 0 NDN 4692 broad.mit.edu 37 15 23932346 23932346 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr15:23932346C>T ENST00000331837.4 - 1 104 c.19G>A c.(19-21)Gat>Aat p.D7N NM_002487.2 NP_002478.1 Q99608 NECD_HUMAN necdin, melanoma antigen (MAGE) family member 7 negative regulation of cell proliferation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus|perikaryon DNA binding breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|skin(1) 39 all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14) all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153) TCGCTCAGATCCTTACTTTGT 0.647000 Prader-Willi syndrome 20 45 0 0 1 0 0 SLC3A1 6519 broad.mit.edu 37 2 44508607 44508607 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:44508607G>A ENST00000260649.6 + 3 768 c.692G>A c.(691-693)gGa>gAa p.G231E SLC3A1_ENST00000409229.3_Missense_Mutation_p.G231E|SLC3A1_ENST00000409387.1_Missense_Mutation_p.G231E|SLC3A1_ENST00000410056.3_Missense_Mutation_p.G231E|SLC3A1_ENST00000409741.1_Missense_Mutation_p.G231E NM_000341.3 NP_000332.2 Q07837 SLC31_HUMAN solute carrier family 3 (amino acid transporter heavy chain), member 1 231 carbohydrate metabolic process|cellular amino acid metabolic process|ion transport integral to plasma membrane|membrane fraction basic amino acid transmembrane transporter activity|catalytic activity|cation binding|L-cystine transmembrane transporter activity breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(1)|skin(3) 26 all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17) L-Cystine(DB00138) ACACGGACAGGAAAATATACT 0.358000 23 46 0 0 1 0 0 NEK11 79858 broad.mit.edu 37 3 130871299 130871299 + Missense_Mutation SNP T T A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:130871299T>A ENST00000383366.4 + 8 1008 c.715T>A c.(715-717)Tcc>Acc p.S239T NEK11_ENST00000429253.2_Missense_Mutation_p.S239T|NEK11_ENST00000426022.2_3'UTR|NEK11_ENST00000356918.4_Missense_Mutation_p.S239T|NEK11_ENST00000510688.1_Missense_Mutation_p.S239T|NEK11_ENST00000507910.1_Missense_Mutation_p.S239T|NEK11_ENST00000508196.1_Missense_Mutation_p.S239T|NEK11_ENST00000412440.2_Missense_Mutation_p.S91T|NEK11_ENST00000511262.1_Missense_Mutation_p.S239T|NEK11_ENST00000510769.1_Intron NM_024800.4 NP_079076.3 Q8NG66 NEK11_HUMAN NIMA-related kinase 11 239 Protein kinase. cell cycle|intra-S DNA damage checkpoint|intracellular protein kinase cascade nucleolus ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|stomach(1)|urinary_tract(2) 33 CAATTTCTTATCCATTGTTTT 0.363000 13 140 0 0 1 0 0 UGT3A1 133688 broad.mit.edu 37 5 35965769 35965769 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:35965769G>A ENST00000274278.3 - 4 919 c.562C>T c.(562-564)Cct>Tct p.P188S UGT3A1_ENST00000513233.1_Intron|UGT3A1_ENST00000507113.1_Missense_Mutation_p.P154S|UGT3A1_ENST00000333811.4_Missense_Mutation_p.P134S|UGT3A1_ENST00000503189.1_Missense_Mutation_p.P188S NM_152404.3 NP_689617.3 Q6NUS8 UD3A1_HUMAN UDP glycosyltransferase 3 family, polypeptide A1 188 integral to membrane glucuronosyltransferase activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4) 46 all_lung(31;0.000197) Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) AGCAAGGAAGGGAATACTGGA 0.468000 22 111 0 0 1 0 0 MARCO 8685 broad.mit.edu 37 2 119732002 119732002 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:119732002G>A ENST00000541757.1 + 6 700 c.320G>A c.(319-321)cGa>cAa p.R107Q MARCO_ENST00000327097.4_Missense_Mutation_p.R185Q Q9UEW3 MARCO_HUMAN macrophage receptor with collagenous structure 185 cell surface receptor linked signaling pathway|innate immune response collagen|integral to plasma membrane pattern recognition receptor activity|scavenger receptor activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 70 GCTATGGGACGAGATGGAGCA 0.582000 10 21 0 0 1 0 0 INADL 10207 broad.mit.edu 37 1 62228577 62228577 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:62228577C>T ENST00000371158.2 + 2 127 c.13C>T c.(13-15)Cct>Tct p.P5S INADL_ENST00000316485.6_Missense_Mutation_p.P5S NM_176877.2 NP_795352.2 Q8NI35 INADL_HUMAN InaD-like (Drosophila) 5 L27. intracellular signal transduction|tight junction assembly apical plasma membrane|perinuclear region of cytoplasm|tight junction protein binding breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3) 103 GCCTGAAAATCCTGCTACAGG 0.259000 25 59 0 0 1 0 0 PIK3C2G 5288 broad.mit.edu 37 12 18719882 18719882 + Splice_Site SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:18719882G>A ENST00000433979.1 + 28 3895 c.e28-1 PIK3C2G_ENST00000538779.1_Splice_Site|PIK3C2G_ENST00000266497.5_Splice_Site NM_004570.4 NP_004561.3 O75747 P3C2G_HUMAN phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma cell communication|phosphatidylinositol-mediated signaling membrane|phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1) 66 Hepatocellular(102;0.194) TCTTAAAACAGGTTTCCTCAT 0.338000 24 63 0 0 1 0 0 FREM1 158326 broad.mit.edu 37 9 14792882 14792882 + Splice_Site SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:14792882C>T ENST00000380881.4 - 23 4658 c.3842_splice c.e23-1 p.K1281_splice FREM1_ENST00000422223.2_Splice_Site_p.K1280_splice|FREM1_ENST00000380880.3_Splice_Site_p.K1280_splice Q5H8C1 FREM1_HUMAN FRAS1 related extracellular matrix 1 1280 cell communication|multicellular organismal development basement membrane|integral to membrane metal ion binding|sugar binding breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 GBM - Glioblastoma multiforme(50;3.53e-06) TTTCAGCCTTCCTGTAAAAAG 0.353000 10 5 0 0 1 0 0 MARCH7 64844 broad.mit.edu 37 2 160604965 160604965 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:160604965C>T ENST00000259050.3 + 5 1286 c.1164C>T c.(1162-1164)tcC>tcT p.S388S MARCH7_ENST00000539065.1_Silent_p.S332S|MARCH7_ENST00000409591.1_Silent_p.S350S|MARCH7_ENST00000409175.1_Silent_p.S388S NM_022826.2 NP_073737.1 Q9H992 MARH7_HUMAN membrane-associated ring finger (C3HC4) 7, E3 ubiquitin protein ligase 388 Ser-rich. ligase activity|zinc ion binding breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|stomach(2) 18 GGTTATCTTCCTCACTTAGAA 0.408000 51 109 0 0 1 0 0 PCDHAC1 56135 broad.mit.edu 37 5 140307836 140307836 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:140307836C>T ENST00000253807.2 + 1 1359 c.1359C>T c.(1357-1359)ttC>ttT p.F453F PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHAC1_ENST00000409700.3_Silent_p.F453F|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA4_ENST00000530339.1_Intron NM_018898.3 NP_061721.2 p.F453F(1) NS(2)|breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|liver(2)|lung(13)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4) 65 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AGGAACTTTTCGTTGCTGAAA 0.532000 47 115 0 0 1 0 0 SRRM4 84530 broad.mit.edu 37 12 119583434 119583434 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:119583434G>A ENST00000267260.4 + 9 1408 c.1020G>A c.(1018-1020)caG>caA p.Q340Q NM_194286.3 NP_919262.2 A7MD48 SRRM4_HUMAN serine/arginine repetitive matrix 4 340 Ser-rich. cell differentiation|mRNA processing|nervous system development|regulation of RNA splicing|RNA splicing nucleus mRNA binding breast(2)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1) 24 CCTCACCCCAGAACAAGGGGG 0.612000 11 21 0 0 1 0 0 IQCE 23288 broad.mit.edu 37 7 2638124 2638124 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:2638124C>T ENST00000402050.2 + 17 1650 c.1466C>T c.(1465-1467)cCc>cTc p.P489L IQCE_ENST00000438376.2_Missense_Mutation_p.P473L|IQCE_ENST00000325979.7_Missense_Mutation_p.P424L|IQCE_ENST00000404984.1_Missense_Mutation_p.P438L NM_001100390.1|NM_152558.3 NP_001093860.1|NP_689771.3 Q6IPM2 IQCE_HUMAN IQ motif containing E 489 breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 Ovarian(82;0.0112) OV - Ovarian serous cystadenocarcinoma(56;1.23e-13) GCTCCCACTCCCAGCAGCAGG 0.647000 88 283 0 0 1 0 0 HSD11B1 3290 broad.mit.edu 37 1 209880338 209880338 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:209880338C>T ENST00000367028.2 + 5 551 c.382C>T c.(382-384)Ctt>Ttt p.L128F HSD11B1_ENST00000367027.3_Missense_Mutation_p.L128F|HSD11B1_ENST00000261465.1_Missense_Mutation_p.L128F|RP1-28O10.1_ENST00000441672.1_RNA NM_001206741.1 NP_001193670.1 P28845 DHI1_HUMAN hydroxysteroid (11-beta) dehydrogenase 1 128 glucocorticoid biosynthetic process endoplasmic reticulum membrane|integral to membrane 11-beta-hydroxysteroid dehydrogenase|11-beta-hydroxysteroid dehydrogenase (NADP+) activity|binding breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(9) 16 OV - Ovarian serous cystadenocarcinoma(81;1.04e-55)|Epithelial(68;1.57e-52)|all cancers(67;1.83e-46)|Colorectal(1306;0.115) NADH(DB00157) TTCTTTGAATCTTTTTCATGA 0.448000 59 171 0 0 1 0 0 CNTNAP2 26047 broad.mit.edu 37 7 147844655 147844655 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:147844655C>T ENST00000361727.3 + 17 3143 c.2627C>T c.(2626-2628)cCt>cTt p.P876L CNTNAP2_ENST00000538075.1_5'UTR NM_014141.5 NP_054860.1 Q9UHC6 CNTP2_HUMAN contactin associated protein-like 2 876 Laminin G-like 3. behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex receptor binding NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3) 188 Melanoma(164;0.153) all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794) OV - Ovarian serous cystadenocarcinoma(82;0.0319) TCACCAACCCCTCTCAACGAT 0.547000 HNSCC(39;0.1) 63 241 0 0 1 0 0 PRMT8 56341 broad.mit.edu 37 12 3649784 3649784 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:3649784C>T ENST00000382622.3 + 2 478 c.88C>T c.(88-90)Ccc>Tcc p.P30S PRMT8_ENST00000261252.4_3'UTR|PRMT8_ENST00000452611.2_Missense_Mutation_p.P21S NM_019854.4 NP_062828.3 Q9NR22 ANM8_HUMAN protein arginine methyltransferase 8 30 regulation of protein binding cytoplasm|plasma membrane histone-arginine N-methyltransferase activity|protein heterodimerization activity|protein homodimerization activity|protein-arginine omega-N asymmetric methyltransferase activity|protein-arginine omega-N monomethyltransferase activity breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(3)|skin(5)|upper_aerodigestive_tract(1) 37 OV - Ovarian serous cystadenocarcinoma(31;0.0109)|COAD - Colon adenocarcinoma(12;0.0264) GAACAGCCCCCCCTCCCAGCC 0.657000 9 108 0 0 1 0 0 XKR6 286046 broad.mit.edu 37 8 11058377 11058377 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:11058377C>T ENST00000416569.2 - 1 498 c.472G>A c.(472-474)Gac>Aac p.D158N XKR6_ENST00000297303.4_Missense_Mutation_p.D158N NM_173683.3 NP_775954.2 Q5GH73 XKR6_HUMAN XK, Kell blood group complex subunit-related family, member 6 158 integral to membrane breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(8)|ovary(2)|prostate(1)|skin(3) 31 Lung(29;0.0407)|COAD - Colon adenocarcinoma(149;0.0555) TAGACGTAGTCCCCCTTGCGG 0.657000 37 106 0 0 1 0 0 CNTN5 53942 broad.mit.edu 37 11 99932099 99932099 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:99932099C>T ENST00000524871.1 + 10 1426 c.1136C>T c.(1135-1137)tCc>tTc p.S379F CNTN5_ENST00000528682.1_Missense_Mutation_p.S379F|CNTN5_ENST00000527185.1_Missense_Mutation_p.S379F|CNTN5_ENST00000279463.3_Missense_Mutation_p.S379F|CNTN5_ENST00000418526.2_Missense_Mutation_p.S305F NM_014361.3 NP_055176.1 O94779 CNTN5_HUMAN contactin 5 379 Ig-like C2-type 3. cell adhesion anchored to membrane|plasma membrane protein binding NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 81 all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219) BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196) GGAAAAAATTCCTTTCGTGGA 0.408000 29 18 0 0 1 0 0 GDPD4 220032 broad.mit.edu 37 11 76969496 76969496 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:76969496G>A ENST00000315938.4 - 10 1049 c.799C>T c.(799-801)Cct>Tct p.P267S GDPD4_ENST00000376217.2_Missense_Mutation_p.P267S NM_182833.1 NP_878253.1 Q6W3E5 GDPD4_HUMAN glycerophosphodiester phosphodiesterase domain containing 4 267 GDPD. glycerol metabolic process|lipid metabolic process integral to membrane glycerophosphodiester phosphodiesterase activity|metal ion binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)|skin(1) 20 AAGAAGGCAGGGTTCTCGCAG 0.453000 75 140 0 0 1 0 0 TLK2 11011 broad.mit.edu 37 17 60685501 60685501 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:60685501G>A ENST00000582809.1 + 22 2327 c.1624G>A c.(1624-1626)Gaa>Aaa p.E542K TLK2_ENST00000542523.1_Missense_Mutation_p.E659K|TLK2_ENST00000326270.9_Missense_Mutation_p.E713K|TLK2_ENST00000343388.7_Missense_Mutation_p.E659K|TLK2_ENST00000346027.5_Missense_Mutation_p.E691K Q86UE8 TLK2_HUMAN tousled-like kinase 2 713 Protein kinase. cell cycle|chromatin modification|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus nucleus ATP binding|protein binding|protein serine/threonine kinase activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(4)|large_intestine(6)|liver(2)|lung(10)|prostate(1)|stomach(1)|urinary_tract(1) 39 AGTAACACCTGAAGCAAAGGT 0.433000 23 68 0 0 1 0 0 SNHG14 104472715 broad.mit.edu 37 15 25330455 25330455 + RNA SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr15:25330455G>A ENST00000546682.1 + 0 439 SNHG14_ENST00000549804.2_RNA|SNHG14_ENST00000553108.1_RNA NR_003361.1 AGGTGCTAGTGGATTCCTTAG 0.498000 21 62 0 0 1 0 0 PRX 57716 broad.mit.edu 37 19 40900057 40900057 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:40900057G>A ENST00000324001.7 - 7 4472 c.4202C>T c.(4201-4203)tCc>tTc p.S1401F PRX_ENST00000291825.7_3'UTR NM_181882.2 NP_870998.2 Q9BXM0 PRAX_HUMAN periaxin 1401 axon ensheathment cytoplasm|nucleus|plasma membrane protein binding breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9) 47 Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384) TCTGACGGGGGACTTGGGGGC 0.692000 71 103 0 0 1 0 0 PON1 5444 broad.mit.edu 37 7 95024007 95024007 + Nonsense_Mutation SNP G G A rs147006695 byFrequency TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:95024007G>A ENST00000542556.1 - 2 104 c.94C>T c.(94-96)Cga>Tga p.R32* PON3_ENST00000475439.1_5'UTR|PON3_ENST00000265627.5_Nonsense_Mutation_p.R32*|PON3_ENST00000427422.1_Nonsense_Mutation_p.R32* P27169 PON1_HUMAN paraoxonase 1 32 aromatic compound catabolic process|carboxylic acid catabolic process|organophosphate catabolic process|phosphatidylcholine metabolic process|positive regulation of binding|positive regulation of cholesterol efflux|positive regulation of transporter activity|response to external stimulus spherical high-density lipoprotein particle aryldialkylphosphatase activity|arylesterase activity|calcium ion binding|phospholipid binding|protein homodimerization activity p.R32*(1) autonomic_ganglia(1)|endometrium(2)|large_intestine(6)|lung(11)|pancreas(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2) 27 all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239) STAD - Stomach adenocarcinoma(171;0.0031) Atorvastatin(DB01076)|Cefazolin(DB01327) TCCACTTCTCGAGAGGCATTC 0.448000 60 153 0 0 1 0 0 F2R 2149 broad.mit.edu 37 5 76029089 76029089 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:76029089G>A ENST00000319211.4 + 2 1304 c.1039G>A c.(1039-1041)Gag>Aag p.E347K NM_001992.3 NP_001983.2 P25116 PAR1_HUMAN coagulation factor II (thrombin) receptor 347 activation of caspase activity|anatomical structure morphogenesis|connective tissue replacement involved in inflammatory response wound healing|negative regulation of cell proliferation|platelet activation|positive regulation of blood coagulation|positive regulation of cell migration|positive regulation of collagen biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JAK-STAT cascade|positive regulation of MAPKKK cascade|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of transcription, DNA-dependent|STAT protein import into nucleus|tyrosine phosphorylation of STAT protein caveola|extracellular region|Golgi apparatus|integral to plasma membrane|platelet dense tubular network receptor binding|thrombin receptor activity NS(1)|breast(1)|endometrium(3)|kidney(1)|lung(7)|ovary(3) 16 all_lung(232;0.000414)|Lung NSC(167;0.0011)|Prostate(461;0.00955)|Ovarian(174;0.0129) all cancers(79;4.43e-43) Streptokinase(DB00086) TTCCACCACAGAGGCTGCCTA 0.502000 83 133 0 0 1 0 0 BEND7 222389 broad.mit.edu 37 10 13522953 13522953 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:13522953C>T ENST00000341083.3 - 6 1149 c.853G>A c.(853-855)Gga>Aga p.G285R BEND7_ENST00000396898.2_Missense_Mutation_p.G350R|BEND7_ENST00000396900.2_Missense_Mutation_p.G337R|BEND7_ENST00000378605.3_Missense_Mutation_p.G298R NM_152751.2 NP_689964.2 Q8N7W2 BEND7_HUMAN BEN domain containing 7 337 protein binding breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(2)|ovary(2)|prostate(1)|stomach(1) 17 TCATTGAGTCCTCTTTTCCTC 0.433000 55 121 0 0 1 0 0 SAMD3 154075 broad.mit.edu 37 6 130535583 130535583 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:130535583C>T ENST00000532763.1 - 3 297 c.168G>A c.(166-168)ctG>ctA p.L56L SAMD3_ENST00000533296.1_5'UTR|SAMD3_ENST00000437477.2_Silent_p.L56L|SAMD3_ENST00000324172.6_Silent_p.L56L|SAMD3_ENST00000368134.2_Silent_p.L56L|SAMD3_ENST00000439090.2_Silent_p.L56L|SAMD3_ENST00000457563.2_Silent_p.L80L Q8N6K7 SAMD3_HUMAN sterile alpha motif domain containing 3 56 SAM. breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(15)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 29 GBM - Glioblastoma multiforme(226;0.00594)|OV - Ovarian serous cystadenocarcinoma(155;0.128) TTAAATCCATCAGAACAGCCT 0.458000 79 41 0 0 1 0 0 LRP5 4041 broad.mit.edu 37 11 68201281 68201281 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:68201281C>T ENST00000294304.7 + 18 4081 c.3975C>T c.(3973-3975)gaC>gaT p.D1325D NM_002335.2 NP_002326.2 O75197 LRP5_HUMAN low density lipoprotein receptor-related protein 5 1325 LDL-receptor class A 2. adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex protein binding|receptor activity autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 ACTGTCAGGACCGCTCAGACG 0.716000 22 64 0 0 1 0 0 BRD4 23476 broad.mit.edu 37 19 15350596 15350596 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:15350596G>A ENST00000263377.2 - 16 3540 c.3319C>T c.(3319-3321)Ctc>Ttc p.L1107F NM_058243.2 NP_490597.1 O60885 BRD4_HUMAN bromodomain containing 4 1107 interspecies interaction between organisms|positive regulation of G2/M transition of mitotic cell cycle|positive regulation of transcription elongation from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle condensed nuclear chromosome|cytoplasm protein binding breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1) 21 OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18) ACCACCACGAGGGGCTGGGGC 0.701000 T C15orf55 lethal midline carcinoma of young people 9 87 0 0 1 0 0 CUL5 8065 broad.mit.edu 37 11 107917032 107917032 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:107917032G>A ENST00000393094.2 + 3 786 c.170G>A c.(169-171)gGc>gAc p.G57D NM_003478.3 NP_003469.2 Q93034 CUL5_HUMAN cullin 5 57 cell cycle arrest|cell proliferation|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process|viral reproduction cullin-RING ubiquitin ligase complex|cytosol calcium channel activity|receptor activity|ubiquitin protein ligase binding endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1) 23 all_cancers(61;7.09e-10)|all_epithelial(67;2.97e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|Melanoma(852;4.48e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072) BRCA - Breast invasive adenocarcinoma(274;3.58e-05)|Epithelial(105;4.68e-05)|all cancers(92;0.00122)|OV - Ovarian serous cystadenocarcinoma(223;0.217) GATGATAAAGGCCCAGCAAAA 0.323000 33 32 0 0 1 0 0 PLOD2 5352 broad.mit.edu 37 3 145794574 145794574 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:145794574G>A ENST00000282903.5 - 15 1849 c.1672C>T c.(1672-1674)Cct>Tct p.P558S PLOD2_ENST00000494950.1_Missense_Mutation_p.P503S|PLOD2_ENST00000461497.1_Missense_Mutation_p.P218S|PLOD2_ENST00000360060.3_Missense_Mutation_p.P537S|RP11-274H2.2_ENST00000480247.1_RNA NM_182943.2 NP_891988.1 O00469 PLOD2_HUMAN procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2 537 protein modification process|response to hypoxia rough endoplasmic reticulum membrane iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 Vitamin C(DB00126) CATACCACAGGATTTTCAAAA 0.294000 35 79 0 0 1 0 0 EFCAB6 64800 broad.mit.edu 37 22 44063145 44063145 + Missense_Mutation SNP G G C TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr22:44063145G>C ENST00000262726.7 - 17 2075 c.1822C>G c.(1822-1824)Ctc>Gtc p.L608V EFCAB6_ENST00000396231.2_Missense_Mutation_p.L456V NM_022785.3 NP_073622.2 Q5THR3 EFCB6_HUMAN EF-hand calcium binding domain 6 608 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus calcium ion binding breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 68 Ovarian(80;0.0247)|all_neural(38;0.025) TCCTCCGTGAGCTTGGTTCTA 0.458000 69 122 0 0 1 0 0 BARD1 580 broad.mit.edu 37 2 215645367 215645367 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:215645367G>A ENST00000260947.4 - 4 1365 c.1231C>T c.(1231-1233)Ccc>Tcc p.P411S BARD1_ENST00000449967.2_Missense_Mutation_p.P267S NM_000465.2 NP_000456.2 Q99728 BARD1_HUMAN BRCA1 associated RING domain 1 411 cell cycle arrest|DNA repair|negative regulation of apoptosis|negative regulation of mRNA 3'-end processing|negative regulation of protein export from nucleus|positive regulation of apoptosis|positive regulation of protein catabolic process|protein K6-linked ubiquitination|regulation of phosphorylation|tissue homeostasis BRCA1-A complex|BRCA1-BARD1 complex|cytoplasm kinase binding|protein heterodimerization activity|protein homodimerization activity|RNA binding|ubiquitin-protein ligase activity|zinc ion binding NS(2)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|prostate(4)|upper_aerodigestive_tract(1) 35 Renal(323;0.0243) Epithelial(149;3.2e-06)|all cancers(144;0.000461)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011) ATTGCTGAGGGACTAGACATC 0.413000 Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome 29 83 0 0 1 0 0 FADS2 9415 broad.mit.edu 37 11 61630525 61630525 + Missense_Mutation SNP T T A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:61630525T>A ENST00000278840.4 + 8 1594 c.964T>A c.(964-966)Ttc>Atc p.F322I FADS2_ENST00000522056.1_Missense_Mutation_p.F291I|FADS2_ENST00000521849.1_Missense_Mutation_p.F322I|FADS2_ENST00000257261.6_Missense_Mutation_p.F300I NM_004265.2 NP_004256.1 O95864 FADS2_HUMAN fatty acid desaturase 2 322 electron transport chain|transport|unsaturated fatty acid biosynthetic process endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction heme binding breast(2)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 20 Alpha-Linolenic Acid(DB00132) AGCCCTCCTTTTCCTCAACTT 0.572000 47 116 0 0 1 0 0 DMBT1 1755 broad.mit.edu 37 10 124336176 124336176 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:124336176C>T ENST00000338354.3 + 7 651 c.545C>T c.(544-546)cCc>cTc p.P182L DMBT1_ENST00000368955.3_Missense_Mutation_p.P182L|DMBT1_ENST00000344338.3_Missense_Mutation_p.P182L|DMBT1_ENST00000359586.6_Missense_Mutation_p.P182L|DMBT1_ENST00000368909.3_Missense_Mutation_p.P182L|DMBT1_ENST00000330163.4_Missense_Mutation_p.P182L|DMBT1_ENST00000368956.2_Missense_Mutation_p.P182L Q9UGM3 DMBT1_HUMAN deleted in malignant brain tumors 1 182 SRCR 1. epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3) 72 all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238) TGGAGCTGCCCCCACAATGGC 0.577000 49 134 0 0 1 0 0 SDCCAG3 10807 broad.mit.edu 37 9 139298541 139298541 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:139298541G>A ENST00000298537.7 - 8 1316 c.1105C>T c.(1105-1107)Cgg>Tgg p.R369W SDCCAG3_ENST00000371725.3_Missense_Mutation_p.R319W|SDCCAG3_ENST00000357365.3_Missense_Mutation_p.R392W|SDCCAG3_ENST00000461693.1_5'UTR NM_006643.3 NP_006634.3 Q96C92 SDCG3_HUMAN serologically defined colon cancer antigen 3 392 cytoplasm NS(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9) 16 Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;8.18e-06)|Epithelial(140;9.31e-06) ATGACCACCCGGAGGTTCTGC 0.632000 86 202 0 0 1 0 0 TGFB1I1 7041 broad.mit.edu 37 16 31488651 31488651 + Silent SNP G G T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr16:31488651G>T ENST00000394863.3 + 11 1270 c.1140G>T c.(1138-1140)tcG>tcT p.S380S TGFB1I1_ENST00000567607.1_Silent_p.S363S|TGFB1I1_ENST00000394858.2_Silent_p.S363S|TGFB1I1_ENST00000361773.3_Silent_p.S363S NM_001042454.2 NP_001035919.1 O43294 TGFI1_HUMAN transforming growth factor beta 1 induced transcript 1 380 LIM zinc-binding 3. androgen receptor signaling pathway|cell adhesion|negative regulation of cell proliferation|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|positive regulation of transforming growth factor beta receptor signaling pathway|transcription from RNA polymerase II promoter|ubiquitin-dependent SMAD protein catabolic process|Wnt receptor signaling pathway cytoplasm|cytoskeleton|focal adhesion|nuclear matrix androgen receptor binding|I-SMAD binding|Roundabout binding|transcription coactivator activity|zinc ion binding lung(8)|upper_aerodigestive_tract(1) 9 CGCCCTTCTCGGGAGGCAGCT 0.652000 11 38 0.010729 0.0107436 1 1 0 FCN1 2219 broad.mit.edu 37 9 137802992 137802992 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:137802992G>A ENST00000371806.3 - 8 811 c.720C>T c.(718-720)gtC>gtT p.V240V NM_002003.3 NP_001994.2 O00602 FCN1_HUMAN ficolin (collagen/fibrinogen domain containing) 1 240 Fibrinogen C-terminal. opsonization|signal transduction collagen|extracellular space antigen binding|calcium ion binding|receptor binding|sugar binding p.V240V(1) endometrium(3)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 37 Myeloproliferative disorder(178;0.0333) OV - Ovarian serous cystadenocarcinoma(145;3.46e-08)|Epithelial(140;6.01e-08)|all cancers(34;3.69e-07) CACTGCCCCCGACAAAGGCTC 0.582000 90 209 0 0 1 0 0 MMRN1 22915 broad.mit.edu 37 4 90857285 90857285 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:90857285C>T ENST00000394980.1 + 7 2773 c.2454C>T c.(2452-2454)tcC>tcT p.S818S MMRN1_ENST00000394981.1_Intron|MMRN1_ENST00000264790.2_Silent_p.S818S|MMRN1_ENST00000508372.1_Silent_p.S560S Q13201 MMRN1_HUMAN multimerin 1 818 cell adhesion|platelet activation|platelet degranulation extracellular region|platelet alpha granule lumen breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2) 72 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;6.96e-05) TAAATCAGTCCAACTTCCAAA 0.363000 14 42 0 0 1 0 0 SLC1A1 6505 broad.mit.edu 37 9 4576054 4576054 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:4576054G>A ENST00000262352.3 + 9 1165 c.929G>A c.(928-930)cGa>cAa p.R310Q NM_004170.5 NP_004161.4 P43005 EAA3_HUMAN solute carrier family 1 (neuronal/epithelial high affinity glutamate transporter, system Xag), member 1 310 D-aspartate import|L-glutamate import|synaptic transmission integral to plasma membrane|membrane fraction high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|pancreas(1)|skin(1) 15 Acute lymphoblastic leukemia(2;0.0359)|Breast(48;0.0457) GBM - Glioblastoma multiforme(50;0.0124)|Lung(218;0.183) L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142) ATAGTCGTACGAAAGAACCCT 0.438000 45 33 0 0 1 0 0 MYH8 4626 broad.mit.edu 37 17 10307824 10307824 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:10307824G>A ENST00000403437.2 - 22 2605 c.2511C>T c.(2509-2511)ttC>ttT p.F837F CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA NM_002472.2 NP_002463.2 P13535 MYH8_HUMAN myosin, heavy chain 8, skeletal muscle, perinatal 837 muscle filament sliding cytosol|muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2) 134 GCTTAATCTTGAAAAAGAGTT 0.458000 Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling 47 100 0 0 1 0 0 FBXO31 79791 broad.mit.edu 37 16 87365000 87365000 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr16:87365000G>A ENST00000311635.7 - 9 1526 c.1514C>T c.(1513-1515)tCc>tTc p.S505F RP11-178L8.4_ENST00000568879.1_Intron NM_024735.3 NP_079011.3 Q5XUX0 FBX31_HUMAN F-box protein 31 505 cell cycle|cyclin catabolic process|mitotic cell cycle G1/S transition DNA damage checkpoint|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process SCF ubiquitin ligase complex cyclin binding endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1) 17 BRCA - Breast invasive adenocarcinoma(80;0.0272) CAGGCTGAAGGATTTCAGCTC 0.622000 22 25 0 0 1 0 0 ABCF2 10061 broad.mit.edu 37 7 150913058 150913058 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:150913058G>A ENST00000287844.2 - 12 1505 c.1396C>T c.(1396-1398)Cat>Tat p.H466Y ABCF2_ENST00000222388.2_Missense_Mutation_p.H466Y NM_007189.1 NP_009120.1 Q9UG63 ABCF2_HUMAN ATP-binding cassette, sub-family F (GCN20), member 2 466 ABC transporter 2. ATP-binding cassette (ABC) transporter complex|mitochondrial envelope ATP binding|ATPase activity|transporter activity breast(1)|central_nervous_system(1)|large_intestine(4)|lung(15)|ovary(1)|skin(2) 24 OV - Ovarian serous cystadenocarcinoma(82;0.00448) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) TGTACCTGATGGTAACGCCCT 0.537000 10 237 0 0 1 0 0 SORCS3 22986 broad.mit.edu 37 10 106974335 106974335 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:106974335G>A ENST00000369701.3 + 18 2738 c.2511G>A c.(2509-2511)caG>caA p.Q837Q SORCS3_ENST00000369699.4_Silent_p.Q123Q NM_014978.1 NP_055793.1 Q9UPU3 SORC3_HUMAN sortilin-related VPS10 domain containing receptor 3 837 PKD. integral to membrane neuropeptide receptor activity autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 131 Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191) Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628) TGGCAGAGCAGGGGCACAATG 0.587000 22 39 0 0 1 0 0 NYAP2 57624 broad.mit.edu 37 2 226447442 226447442 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:226447442C>T ENST00000272907.6 + 4 1722 c.1309C>T c.(1309-1311)Ccc>Tcc p.P437S NYAP2_ENST00000409269.2_Intron NM_020864.1 NP_065915.1 Q9P242 K1486_HUMAN neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2 437 Pro-rich. CTCCACCTCTCCCTCCCCCGT 0.647000 21 41 0 0 1 0 0 PAK6 56924 broad.mit.edu 37 15 40568220 40568220 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr15:40568220C>T ENST00000455577.2 + 10 2748 c.1836C>T c.(1834-1836)ttC>ttT p.F612F PAK6_ENST00000453867.1_Silent_p.F657F|PAK6_ENST00000560346.1_Silent_p.F657F|PAK6_ENST00000441369.1_Silent_p.F657F|PAK6_ENST00000542403.2_Silent_p.F657F|RP11-133K1.2_ENST00000558658.1_3'UTR|PAK6_ENST00000260404.4_Silent_p.F657F NM_001276718.1 NP_001263647.1 Q9NQU5 PAK6_HUMAN p21 protein (Cdc42/Rac)-activated kinase 6 657 Protein kinase. ATP binding|protein binding|protein serine/threonine kinase activity breast(1)|cervix(1)|endometrium(3)|large_intestine(2)|liver(1)|lung(11)|ovary(2)|prostate(1)|skin(2) 24 all_cancers(109;1.13e-18)|all_epithelial(112;1.62e-15)|Lung NSC(122;5.67e-11)|all_lung(180;1.41e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0823)|Colorectal(260;0.117) GBM - Glioblastoma multiforme(113;1.51e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0544) ACCACCCCTTCCTGCTGCAGA 0.637000 91 158 0 0 1 0 0 GIMAP2 26157 broad.mit.edu 37 7 150389570 150389570 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:150389570G>A ENST00000223293.5 + 3 290 c.196G>A c.(196-198)Gga>Aga p.G66R NM_015660.2 NP_056475.1 Q9UG22 GIMA2_HUMAN GTPase, IMAP family member 2 66 integral to membrane GTP binding p.G66*(1) kidney(1)|large_intestine(1)|lung(8)|skin(2)|urinary_tract(1) 13 OV - Ovarian serous cystadenocarcinoma(82;0.0145) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) CAAAAGTCAGGGAAGCTGGGG 0.468000 29 89 0 0 1 0 0 CSH2 1443 broad.mit.edu 37 17 61950618 61950618 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:61950618G>A ENST00000336844.5 - 2 243 c.92C>T c.(91-93)cCg>cTg p.P31L CSH2_ENST00000560142.1_Intron|CSH2_ENST00000392886.2_Missense_Mutation_p.P31L|CSH2_ENST00000345366.7_Missense_Mutation_p.P31L NM_022644.3 NP_072170.1 P01243 CSH_HUMAN chorionic somatomammotropin hormone 2 31 female pregnancy|signal transduction extracellular region hormone activity|metal ion binding endometrium(2)|large_intestine(1)|lung(3) 6 CCTGGATAACGGAACGGTTTG 0.602000 129 359 0 0 1 0 0 KCNH3 23416 broad.mit.edu 37 12 49937726 49937726 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:49937726C>T ENST00000257981.6 + 6 1112 c.852C>T c.(850-852)ttC>ttT p.F284F NM_012284.1 NP_036416.1 Q9ULD8 KCNH3_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 3 284 regulation of transcription, DNA-dependent integral to membrane two-component sensor activity|voltage-gated potassium channel activity NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 36 GTACCACATTCGTGTCCAAGT 0.597000 51 125 0 0 1 0 0 THOC5 8563 broad.mit.edu 37 22 29908012 29908012 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr22:29908012G>A ENST00000490103.1 - 18 1917 c.1795C>T c.(1795-1797)Cgg>Tgg p.R599W THOC5_ENST00000397871.1_Missense_Mutation_p.R599W|THOC5_ENST00000397872.1_Missense_Mutation_p.R599W|THOC5_ENST00000397873.2_Missense_Mutation_p.R599W NM_003678.4 NP_003669.4 Q13769 THOC5_HUMAN THO complex 5 599 intronless viral mRNA export from host nucleus|monocyte differentiation|mRNA processing|primitive hemopoiesis|RNA splicing cytoplasm|intermediate filament cytoskeleton|THO complex part of transcription export complex protein binding|RNA binding NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(4)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 GGTCTTACCCGAATGTTGTCA 0.582000 20 36 0 0 1 0 0 ELAC2 60528 broad.mit.edu 37 17 12905662 12905662 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:12905662G>A ENST00000338034.4 - 14 1472 c.1233C>T c.(1231-1233)acC>acT p.T411T ELAC2_ENST00000395962.2_Silent_p.T392T|ELAC2_ENST00000426905.3_Silent_p.T371T NM_018127.6|NM_173717.1 NP_060597.4|NP_776065.1 Q9BQ52 RNZ2_HUMAN elaC ribonuclease Z 2 411 tRNA processing nucleus endonuclease activity|metal ion binding|protein binding breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|skin(1) 23 GCACACTGAGGGTGGGGCCCT 0.562000 7 44 0 0 1 0 0 TRAV8-1 28685 broad.mit.edu 37 14 22265546 22265546 + RNA SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr14:22265546G>A ENST00000390430.2 + 0 88 CTGGCCCCGAGGAGAATTTCC 0.502000 6 10 0 0 1 0 0 PRPF8 10594 broad.mit.edu 37 17 1565245 1565245 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:1565245C>T ENST00000572621.1 - 24 4242 c.3977G>A c.(3976-3978)gGc>gAc p.G1326D PRPF8_ENST00000304992.6_Missense_Mutation_p.G1326D Q6P2Q9 PRP8_HUMAN pre-mRNA processing factor 8 1326 catalytic step 2 spliceosome|nuclear speck|U5 snRNP protein binding|RNA binding NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3) 77 UCEC - Uterine corpus endometrioid carcinoma (25;0.0855) TGAGAGCATGCCGAGTCCACC 0.517000 4 144 0 0 1 0 0 PCDH18 54510 broad.mit.edu 37 4 138449706 138449706 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:138449706C>T ENST00000344876.4 - 3 3052 c.2666G>A c.(2665-2667)cGa>cAa p.R889Q PCDH18_ENST00000511115.1_Missense_Mutation_p.R69Q|PCDH18_ENST00000510305.1_Missense_Mutation_p.R100Q|PCDH18_ENST00000507846.1_Missense_Mutation_p.R668Q|PCDH18_ENST00000412923.2_Missense_Mutation_p.R888Q NM_019035.3 NP_061908.1 Q9HCL0 PCD18_HUMAN protocadherin 18 889 brain development|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 86 all_hematologic(180;0.24) TGGAGAATCTCGCCCCAAATC 0.448000 97 200 0 0 1 0 0 GPR133 283383 broad.mit.edu 37 12 131602957 131602957 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:131602957C>T ENST00000261654.5 + 19 2628 c.2069C>T c.(2068-2070)tCa>tTa p.S690L GPR133_ENST00000543617.1_Missense_Mutation_p.S209L|GPR133_ENST00000535015.1_Missense_Mutation_p.S722L|GPR133_ENST00000376682.4_Missense_Mutation_p.S376L NM_198827.3 NP_942122.2 Q6QNK2 GP133_HUMAN G protein-coupled receptor 133 690 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4) 67 all_neural(191;0.0982)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06) TGCATCATTTCACTGTCATTT 0.502000 58 145 0 0 1 0 0 DSCAML1 57453 broad.mit.edu 37 11 117309604 117309604 + Nonsense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:117309604G>A ENST00000321322.6 - 24 4421 c.4420C>T c.(4420-4422)Cga>Tga p.R1474* DSCAML1_ENST00000527706.1_Nonsense_Mutation_p.R1204* NM_020693.2 NP_065744.2 Q8TD84 DSCL1_HUMAN Down syndrome cell adhesion molecule like 1 1414 Fibronectin type-III 5. axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion cell surface|integral to membrane|plasma membrane protein homodimerization activity breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 110 all_hematologic(175;0.0487) Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232) BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172) TCCTCACCTCGGATGGAGCTG 0.607000 10 12 0 0 1 0 0 NSMF 26012 broad.mit.edu 37 9 140347223 140347223 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:140347223G>A ENST00000371475.3 - 10 1327 c.1096C>T c.(1096-1098)Cgc>Tgc p.R366C NSMF_ENST00000392812.4_Missense_Mutation_p.R343C|NSMF_ENST00000371473.3_Missense_Mutation_p.R336C|NSMF_ENST00000371468.1_Missense_Mutation_p.R99C|NSMF_ENST00000371474.3_Missense_Mutation_p.R341C|NSMF_ENST00000484316.1_5'UTR|NSMF_ENST00000371482.1_Missense_Mutation_p.R30C|NSMF_ENST00000371472.2_Missense_Mutation_p.R364C|NSMF_ENST00000541195.1_Missense_Mutation_p.R163C|NSMF_ENST00000437259.1_Missense_Mutation_p.R343C|NSMF_ENST00000265663.7_Missense_Mutation_p.R364C|NSMF_ENST00000339554.3_Missense_Mutation_p.R163C NM_001130969.1 NP_001124441.1 NMDA receptor synaptonuclear signaling and neuronal migration factor TCATCCCGGCGGATGATAGTG 0.652000 6 12 0 0 1 0 0 ZSCAN18 65982 broad.mit.edu 37 19 58601563 58601563 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:58601563C>T ENST00000240727.6 - 2 471 c.72G>A c.(70-72)ggG>ggA p.G24G ZSCAN18_ENST00000601144.1_Silent_p.G24G|ZSCAN18_ENST00000600404.1_Silent_p.G80G|ZSCAN18_ENST00000421612.2_Intron NM_023926.4 NP_076415.3 Q8TBC5 ZSC18_HUMAN zinc finger and SCAN domain containing 18 24 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|skin(3) 19 Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.114)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152) CGGCTGCTGACCCCGGCGTGG 0.617000 44 76 0 0 1 0 0 SLCO1C1 53919 broad.mit.edu 37 12 20858975 20858975 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:20858975G>A ENST00000381552.1 + 4 732 c.364G>A c.(364-366)Gga>Aga p.G122R SLCO1C1_ENST00000266509.2_Missense_Mutation_p.G122R|SLCO1C1_ENST00000545102.1_Missense_Mutation_p.G4R|SLCO1C1_ENST00000545604.1_Missense_Mutation_p.G122R|SLCO1C1_ENST00000540354.1_Missense_Mutation_p.G122R Q9NYB5 SO1C1_HUMAN solute carrier organic anion transporter family, member 1C1 122 sodium-independent organic anion transport integral to membrane|plasma membrane thyroid hormone transmembrane transporter activity NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 60 Esophageal squamous(101;0.149) CATGGGAGTTGGAACACTGCT 0.408000 21 276 0 0 1 0 0 FAM83B 222584 broad.mit.edu 37 6 54806276 54806276 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:54806276C>T ENST00000306858.7 + 5 2623 c.2507C>T c.(2506-2508)tCg>tTg p.S836L NM_001010872.1 NP_001010872.1 Q5T0W9 FA83B_HUMAN family with sequence similarity 83, member B 836 Poly-Ser. autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1) 71 Lung NSC(77;0.0178)|Renal(3;0.122) TCTTCCTCATCGAATTCTCAA 0.383000 21 57 0 0 1 0 0 COL6A1 1291 broad.mit.edu 37 21 47423731 47423731 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr21:47423731G>A ENST00000361866.3 + 35 3005 c.2891G>A c.(2890-2892)cGg>cAg p.R964Q COL6A1_ENST00000498614.1_3'UTR NM_001848.2 NP_001839.2 P12109 CO6A1_HUMAN collagen, type VI, alpha 1 964 C-terminal globular domain.|VWFA 3. axon guidance|cell adhesion|protein heterotrimerization collagen type VI|protein complex platelet-derived growth factor binding breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 33 all_hematologic(128;0.24) Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649) Palifermin(DB00039) GAAGCCCAGCGGGCAGGCATC 0.672000 20 66 0 0 1 0 0 MOV10 4343 broad.mit.edu 37 1 113237202 113237202 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:113237202C>T ENST00000369644.1 + 10 2284 c.1255C>T c.(1255-1257)Cct>Tct p.P419S RP11-426L16.3_ENST00000421943.1_RNA|MOV10_ENST00000468624.1_3'UTR|MOV10_ENST00000357443.2_Missense_Mutation_p.P475S|MOV10_ENST00000413052.2_Missense_Mutation_p.P475S|MOV10_ENST00000369645.1_Missense_Mutation_p.P475S Q9HCE1 MOV10_HUMAN Mov10, Moloney leukemia virus 10, homolog (mouse) 475 mRNA cleavage involved in gene silencing by miRNA|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasmic mRNA processing body ATP binding|helicase activity|protein binding|RNA binding breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(3) 38 Lung SC(450;0.246) all_cancers(81;3.31e-11)|all_epithelial(167;5.69e-10)|all_lung(203;3.73e-05)|Breast(1374;0.000525)|Lung NSC(69;0.000954)|Ovarian(761;0.0367)|Lung SC(238;0.114) OV - Ovarian serous cystadenocarcinoma(397;3.99e-67)|all cancers(265;1e-62)|Epithelial(280;4.78e-61)|Lung(183;0.0234)|Colorectal(144;0.0686)|READ - Rectum adenocarcinoma(129;0.0929)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|BRCA - Breast invasive adenocarcinoma(282;0.24) CATGCTCTTTCCTGTGGCACC 0.622000 27 38 0 0 1 0 0 STK31 56164 broad.mit.edu 37 7 23871772 23871772 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:23871772C>T ENST00000354639.3 + 24 3242 c.2778C>T c.(2776-2778)tcC>tcT p.S926S STK31_ENST00000428484.1_Silent_p.S926S|STK31_ENST00000405627.3_3'UTR|STK31_ENST00000433467.2_Silent_p.S926S|STK31_ENST00000355870.3_Silent_p.S949S NM_001260504.1|NM_032944.3 NP_001247433.1|NP_116562.2 Q9BXU1 STK31_HUMAN serine/threonine kinase 31 949 Protein kinase. ATP binding|nucleic acid binding|protein serine/threonine kinase activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 67 AAGTCAAATCCCTCCTCTGTA 0.358000 24 53 0 0 1 0 0 CUL4B 8450 broad.mit.edu 37 X 119708408 119708408 + Missense_Mutation SNP C C T rs145808703 byFrequency TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chrX:119708408C>T ENST00000404115.3 - 2 466 c.65G>A c.(64-66)gGt>gAt p.G22D CUL4B_ENST00000486604.1_5'UTR NM_003588.3 NP_003579.3 Q13620 CUL4B_HUMAN cullin 4B 22 Ser-rich. cell cycle|DNA repair|ubiquitin-dependent protein catabolic process Cul4B-RING ubiquitin ligase complex|nucleus protein binding|ubiquitin protein ligase binding NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 TTACTCACCACCGTCTTTAGA 0.458000 62 27 0 0 1 0 0 GPR110 266977 broad.mit.edu 37 6 46982557 46982557 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:46982557C>T ENST00000371253.2 - 9 1002 c.787G>A c.(787-789)Gga>Aga p.G263R GPR110_ENST00000283297.5_Missense_Mutation_p.G66R|GPR110_ENST00000449332.2_5'UTR NM_153840.2 NP_722582.2 Q5T601 GP110_HUMAN G protein-coupled receptor 110 263 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 29 GACCCAAATCCAAAGACAATG 0.443000 31 76 0 0 1 0 0 MCTP1 79772 broad.mit.edu 37 5 94114823 94114823 + Missense_Mutation SNP C C G TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:94114823C>G ENST00000515393.1 - 19 2601 c.2602G>C c.(2602-2604)Gat>Cat p.D868H MCTP1_ENST00000505078.1_Missense_Mutation_p.D384H|MCTP1_ENST00000514040.1_5'UTR|MCTP1_ENST00000429576.2_Missense_Mutation_p.D561H|MCTP1_ENST00000312216.8_Missense_Mutation_p.D647H NM_024717.4 NP_078993.4 Q6DN14 MCTP1_HUMAN multiple C2 domains, transmembrane 1 868 calcium-mediated signaling integral to membrane|membrane fraction calcium ion binding breast(1)|endometrium(3)|large_intestine(13)|liver(2)|lung(13)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1) 41 all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207) all cancers(79;9.1e-17) ACCTTGTCATCTTTGTCATCT 0.423000 30 80 0 0 1 0 0 WDR33 55339 broad.mit.edu 37 2 128466403 128466403 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:128466403G>A ENST00000322313.4 - 21 3787 c.3629C>T c.(3628-3630)tCc>tTc p.S1210F NM_018383.4 NP_060853.3 Q9C0J8 WDR33_HUMAN WD repeat domain 33 1210 postreplication repair|spermatogenesis collagen|nucleus protein binding NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 39 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0695) GCTGGCTGGGGAATGACCGTC 0.557000 18 67 0 0 1 0 0 PSG7 5676 broad.mit.edu 37 19 43439908 43439908 + RNA SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:43439908G>A ENST00000446844.3 - 0 167 PSG7_ENST00000406070.2_RNA Q13046 PSG7_HUMAN pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene) female pregnancy extracellular region Prostate(69;0.00682) GGTTCCAGAAGTTTAAAAGTG 0.507000 11 268 0 0 1 0 0 DYX1C1 161582 broad.mit.edu 37 15 55731680 55731680 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr15:55731680C>T ENST00000321149.3 - 7 1250 c.883G>A c.(883-885)Gat>Aat p.D295N DYX1C1_ENST00000380679.1_Missense_Mutation_p.D295N|DYX1C1-CCPG1_ENST00000565113.1_RNA|DYX1C1_ENST00000348518.3_Missense_Mutation_p.D295N|DYX1C1_ENST00000457155.2_Missense_Mutation_p.D295N|DYX1C1_ENST00000448430.2_Missense_Mutation_p.D295N NM_130810.3 NP_570722.2 Q8WXU2 DYXC1_HUMAN dyslexia susceptibility 1 candidate 1 295 neuron migration|regulation of estrogen receptor signaling pathway|regulation of proteasomal protein catabolic process cytoplasm|nucleus estrogen receptor binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 18 all cancers(107;0.0118)|GBM - Glioblastoma multiforme(80;0.171) TTTCCTTTATCCTTCAACCAT 0.393000 19 49 0 0 1 0 0 FHOD3 80206 broad.mit.edu 37 18 34340720 34340720 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr18:34340720C>T ENST00000257209.4 + 23 4172 c.4050C>T c.(4048-4050)gtC>gtT p.V1350V FHOD3_ENST00000359247.4_Silent_p.V1333V|FHOD3_ENST00000591635.1_Silent_p.V546V|FHOD3_ENST00000592128.1_Silent_p.V329V|FHOD3_ENST00000445677.1_Silent_p.V1312V|FHOD3_ENST00000590592.1_Silent_p.V1533V NM_025135.2 NP_079411.2 Q2V2M9 FHOD3_HUMAN formin homology 2 domain containing 3 1333 actin cytoskeleton organization cytoplasm|cytoskeleton actin binding NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1) 90 all_epithelial(2;0.0181)|Colorectal(2;0.0195) CGCTGGGCGTCCGCACACGCA 0.672000 19 40 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9083938 9083938 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:9083938G>A ENST00000397910.4 - 1 8080 c.7877C>T c.(7876-7878)cCt>cTt p.P2626L NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 2626 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 AAATTTAGAAGGTGGCGTGGA 0.488000 13 36 0 0 1 0 0 RALYL 138046 broad.mit.edu 37 8 85774622 85774622 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:85774622G>A ENST00000521268.1 + 6 1610 c.505G>A c.(505-507)Ggg>Agg p.G169R RALYL_ENST00000523850.1_Missense_Mutation_p.G96R|RALYL_ENST00000517638.1_Missense_Mutation_p.G182R|RALYL_ENST00000521376.1_Missense_Mutation_p.G80R|RALYL_ENST00000518566.1_Missense_Mutation_p.G158R|RALYL_ENST00000521695.1_Missense_Mutation_p.G169R|RALYL_ENST00000522455.1_Missense_Mutation_p.G169R NM_173848.5 NP_776247.3 Q86SE5 RALYL_HUMAN RALY RNA binding protein-like 169 identical protein binding|nucleotide binding|RNA binding endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1) 24 GACTCGCAGGGGGAAAGGAGT 0.468000 15 24 0 0 1 0 0 EPHA10 284656 broad.mit.edu 37 1 38185688 38185688 + Nonsense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:38185688G>A ENST00000373048.4 - 14 2454 c.2455C>T c.(2455-2457)Cag>Tag p.Q819* EPHA10_ENST00000330210.7_Nonsense_Mutation_p.Q314*|EPHA10_ENST00000540011.1_3'UTR|EPHA10_ENST00000446149.2_5'UTR|EPHA10_ENST00000427468.2_Nonsense_Mutation_p.Q819* NM_001099439.1 NP_001092909.1 Q5JZY3 EPHAA_HUMAN EPH receptor A10 819 Protein kinase. extracellular region|integral to membrane|integral to plasma membrane ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 50 Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197) Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) TGGCCAAACTGAAGTGTCTCG 0.622000 29 72 0 0 1 0 0 PTK2B 2185 broad.mit.edu 37 8 27301764 27301764 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:27301764C>T ENST00000397501.1 + 28 2998 c.2190C>T c.(2188-2190)ctC>ctT p.L730L PTK2B_ENST00000420218.2_Silent_p.L730L|PTK2B_ENST00000544172.1_Silent_p.L730L|PTK2B_ENST00000517339.1_Silent_p.L730L|PTK2B_ENST00000338238.4_Silent_p.L730L|PTK2B_ENST00000397497.4_Silent_p.L476L|PTK2B_ENST00000346049.5_Silent_p.L730L NM_173174.2 NP_775266.1 Q14289 FAK2_HUMAN protein tyrosine kinase 2 beta 730 Pro-rich. apoptosis|bone resorption|positive regulation of cell proliferation|signal complex assembly cytosol ATP binding|non-membrane spanning protein tyrosine kinase activity|signal transducer activity breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(17)|ovary(4)|skin(12)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 47 Ovarian(32;2.72e-05) UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229) AAACCAACCTCCTGGCTCCAA 0.527000 22 60 0 0 1 0 0 ELMO1 9844 broad.mit.edu 37 7 37298844 37298844 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:37298844C>T ENST00000310758.4 - 6 1002 c.355G>A c.(355-357)Gag>Aag p.E119K ELMO1_ENST00000448602.1_Missense_Mutation_p.E119K|ELMO1_ENST00000442504.1_Missense_Mutation_p.E119K NM_001206480.1|NM_014800.10 NP_001193409.1|NP_055615.8 Q92556 ELMO1_HUMAN engulfment and cell motility 1 119 actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction cytoskeleton|cytosol|plasma membrane SH3 domain binding breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 58 TTTATAAACTCCTGGGCAAAC 0.547000 21 39 0 0 1 0 0 ZNF676 163223 broad.mit.edu 37 19 22363596 22363596 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:22363596G>A ENST00000397121.2 - 3 1240 c.923C>T c.(922-924)cCc>cTc p.P308L NM_001001411.2 NP_001001411.2 Q8N7Q3 ZN676_HUMAN zinc finger protein 676 308 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2) 67 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114) ACACTTGTAGGGTTTCTCTCC 0.438000 4 138 0 0 1 0 0 CHST12 55501 broad.mit.edu 37 7 2472979 2472979 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:2472979C>T ENST00000258711.6 + 2 840 c.705C>T c.(703-705)ctC>ctT p.L235L NM_001243794.1|NM_001243795.1|NM_018641.4 NP_001230723.1|NP_001230724.1|NP_061111.1 Q9NRB3 CHSTC_HUMAN carbohydrate (chondroitin 4) sulfotransferase 12 235 dermatan sulfate biosynthetic process integral to Golgi membrane 3'-phosphoadenosine 5'-phosphosulfate binding|chondroitin 4-sulfotransferase activity|protein binding NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(7)|prostate(1)|skin(1)|urinary_tract(1) 21 Ovarian(82;0.0253) UCEC - Uterine corpus endometrioid carcinoma (27;0.0847)|OV - Ovarian serous cystadenocarcinoma(56;2.25e-13) AGGTCAAGCTCAAGAAGTACA 0.612000 40 90 0 0 1 0 0 CUZD1 50624 broad.mit.edu 37 10 124595719 124595719 + Missense_Mutation SNP A A G TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:124595719A>G ENST00000368904.1 - 8 1914 c.965T>C c.(964-966)cTt>cCt p.L322P CUZD1_ENST00000545804.1_Missense_Mutation_p.L322P|CUZD1_ENST00000392790.1_Missense_Mutation_p.L322P Q86UP6 CUZD1_HUMAN CUB and zona pellucida-like domains 1 322 ZP. cell cycle|cell division|cell proliferation|substrate-dependent cell migration, cell attachment to substrate|trypsinogen activation integral to membrane|transport vesicle membrane|zymogen granule membrane NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|stomach(1) 39 all_neural(114;0.169)|Glioma(114;0.222) Colorectal(40;0.126)|COAD - Colon adenocarcinoma(40;0.141) ACATCCATTAAGAGGGACAGA 0.383000 6 136 0 0 1 0 0 VCAM1 7412 broad.mit.edu 37 1 101186213 101186213 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:101186213G>A ENST00000294728.2 + 2 347 c.246G>A c.(244-246)atG>atA p.M82I VCAM1_ENST00000370119.4_Intron|VCAM1_ENST00000370115.1_Missense_Mutation_p.M82I|VCAM1_ENST00000347652.2_Missense_Mutation_p.M82I NM_001078.3 NP_001069.1 P19320 VCAM1_HUMAN vascular cell adhesion molecule 1 82 Ig-like C2-type 1. heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome cell adhesion molecule binding|integrin binding central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 56 all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011) Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196) Carvedilol(DB01136) CGCTGACAATGAATCCTGTTA 0.463000 39 47 0 0 1 0 0 SP7 121340 broad.mit.edu 37 12 53722254 53722254 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:53722254G>A ENST00000536324.2 - 3 1255 c.972C>T c.(970-972)ttC>ttT p.F324F SP7_ENST00000537210.2_Silent_p.F306F|SP7_ENST00000303846.3_Silent_p.F324F NM_001173467.1 NP_001166938.1 Q8TDD2 SP7_HUMAN Sp7 transcription factor 324 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding cervix(2)|large_intestine(3)|lung(7)|skin(1)|urinary_tract(1) 14 AGTTGCAGACGAAGGGCCTCT 0.617000 34 101 0 0 1 0 0 GPR112 139378 broad.mit.edu 37 X 135429662 135429662 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chrX:135429662G>A ENST00000394143.1 + 6 4088 c.3797G>A c.(3796-3798)gGa>gAa p.G1266E GPR112_ENST00000412101.1_Missense_Mutation_p.G1061E|GPR112_ENST00000287534.4_Missense_Mutation_p.G1203E|GPR112_ENST00000394141.1_Missense_Mutation_p.G1061E|GPR112_ENST00000370652.1_Missense_Mutation_p.G1266E NM_153834.3 NP_722576.3 Q8IZF6 GP112_HUMAN G protein-coupled receptor 112 1266 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2) 199 Acute lymphoblastic leukemia(192;0.000127) ATATCCCTGGGAAAAACCCCT 0.448000 62 19 0 0 1 0 0 ARMC12 221481 broad.mit.edu 37 6 35705868 35705868 + Silent SNP T T A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:35705868T>A ENST00000373866.3 + 2 250 c.228T>A c.(226-228)tcT>tcA p.S76S ARMC12_ENST00000288065.2_Silent_p.S103S|ARMC12_ENST00000373869.3_Silent_p.S76S Q5T9G4 CF081_HUMAN armadillo repeat containing 12 76 binding TCCTCAACTCTTTGGAGTGCA 0.597000 OREG0017379 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 60 178 0 0 1 0 0 APCS 325 broad.mit.edu 37 1 159558464 159558464 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:159558464G>A ENST00000255040.2 + 2 735 c.638G>A c.(637-639)gGa>gAa p.G213E NM_001639.3 NP_001630.1 P02743 SAMP_HUMAN amyloid P component, serum 213 Pentaxin. acute-phase response|chaperone-mediated protein complex assembly|protein folding extracellular space metal ion binding|sugar binding|unfolded protein binding breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(2) 20 all_hematologic(112;0.0429) GAAATCAGAGGATATGTCATC 0.483000 63 65 0 0 1 0 0 COL4A3 1285 broad.mit.edu 37 2 228144557 228144557 + Missense_Mutation SNP A A G TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:228144557A>G ENST00000396578.3 + 29 2336 c.2174A>G c.(2173-2175)aAa>aGa p.K725R AC097662.2_ENST00000439598.2_RNA|AC097662.2_ENST00000433324.1_RNA|AC097662.2_ENST00000396588.2_RNA NM_000091.4 NP_000082.2 Q01955 CO4A3_HUMAN collagen, type IV, alpha 3 (Goodpasture antigen) 725 Triple-helical region. activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound collagen type IV extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 55 all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247) Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187) TGTCCTGGAAAAATGGGAGAG 0.433000 10 14 0 0 1 0 0 ANGEL2 90806 broad.mit.edu 37 1 213188959 213188959 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:213188959C>T ENST00000366962.3 - 1 209 c.55G>A c.(55-57)Ggc>Agc p.G19S ANGEL2_ENST00000360506.2_5'UTR|ANGEL2_ENST00000540642.1_5'UTR|ANGEL2_ENST00000535388.1_5'UTR NM_144567.3 NP_653168.2 Q5VTE6 ANGE2_HUMAN angel homolog 2 (Drosophila) 19 central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(1) 24 OV - Ovarian serous cystadenocarcinoma(81;0.00446)|all cancers(67;0.0169)|Epithelial(68;0.0921)|GBM - Glioblastoma multiforme(131;0.185) ACTGACCGGCCTCTTCCCACC 0.716000 45 119 0 0 1 0 0 FOXS1 2307 broad.mit.edu 37 20 30432520 30432520 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr20:30432520G>A ENST00000375978.3 - 1 900 c.826C>T c.(826-828)Cct>Tct p.P276S NM_004118.3 NP_004109.1 O43638 FOXS1_HUMAN forkhead box S1 276 anti-apoptosis|artery morphogenesis|blood vessel remodeling|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|insulin receptor signaling pathway|lymphangiogenesis|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|neural crest cell fate commitment|neuromuscular process controlling balance|Notch signaling pathway|ossification|paraxial mesodermal cell fate commitment|patterning of blood vessels|positive regulation of multicellular organism growth|positive regulation of transcription from RNA polymerase II promoter|regulation of blood vessel size|regulation of organ growth|somitogenesis|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis transcription factor complex chromatin DNA binding|DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding kidney(1)|large_intestine(3)|lung(3)|ovary(1)|urinary_tract(1) 9 GGTGGTGCAGGGGAGGGGGCT 0.657000 23 36 0 0 1 0 0 ZNF300 91975 broad.mit.edu 37 5 150278072 150278072 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:150278072C>T ENST00000427179.1 - 4 286 c.60G>A c.(58-60)gaG>gaA p.E20E ZNF300_ENST00000418587.2_5'UTR|ZNF300_ENST00000394226.2_Silent_p.E20E|ZNF300_ENST00000446148.2_Silent_p.E36E|ZNF300_ENST00000274599.5_Silent_p.E20E Q96RE9 ZN300_HUMAN zinc finger protein 300 20 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(4)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2) 27 Medulloblastoma(196;0.109)|all_hematologic(541;0.131) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) GCTGCCACTCCTCCTGGGTGA 0.463000 77 151 0 0 1 0 0 DNAJC6 9829 broad.mit.edu 37 1 65876957 65876957 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:65876957G>A ENST00000395325.3 + 18 2645 c.2488G>A c.(2488-2490)Gaa>Aaa p.E830K DNAJC6_ENST00000371069.4_Missense_Mutation_p.E887K|DNAJC6_ENST00000263441.7_Missense_Mutation_p.E817K NM_014787.3 NP_055602.1 O75061 AUXI_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 6 830 cellular membrane organization|post-Golgi vesicle-mediated transport cytosol heat shock protein binding|protein tyrosine phosphatase activity|SH3 domain binding NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(22)|ovary(1)|prostate(2)|skin(1) 39 TGAAGGCAAAGAAAGAAATAT 0.433000 23 58 0 0 1 0 0 LRIT2 340745 broad.mit.edu 37 10 85984601 85984601 + Missense_Mutation SNP G G A rs138269963 TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:85984601G>A ENST00000372113.4 - 2 385 c.380C>T c.(379-381)cCt>cTt p.P127L LRIT2_ENST00000538192.1_Missense_Mutation_p.P127L NM_001017924.2 NP_001017924.1 A6NDA9 LRIT2_HUMAN leucine-rich repeat, immunoglobulin-like and transmembrane domains 2 127 integral to membrane central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|prostate(6)|urinary_tract(1) 32 CCTCAGGAGAGGGGTGGCACG 0.557000 62 151 0 0 1 0 0 MMP16 4325 broad.mit.edu 37 8 89128784 89128784 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:89128784C>T ENST00000286614.6 - 6 1316 c.1035G>A c.(1033-1035)ggG>ggA p.G345G MMP16_ENST00000544227.1_5'UTR NM_005941.4 NP_005932.2 P51512 MMP16_HUMAN matrix metallopeptidase 16 (membrane-inserted) 345 collagen catabolic process|proteolysis cell surface|integral to plasma membrane|proteinaceous extracellular matrix calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3) 81 TGTTAAAGTTCCCATCACAGA 0.458000 38 78 0 0 1 0 0 SMDT1 91689 broad.mit.edu 37 22 42477957 42477957 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr22:42477957C>T ENST00000331479.3 + 2 289 c.215C>T c.(214-216)tCc>tTc p.S72F SMDT1_ENST00000547929.1_Intron NM_033318.4 NP_201575.3 single-pass membrane protein with aspartate-rich tail 1 CGTGTGTTCTCCATTGTGATC 0.512000 39 82 0 0 1 0 0 PCDHA2 56146 broad.mit.edu 37 5 140175447 140175447 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:140175447G>A ENST00000526136.1 + 1 898 c.898G>A c.(898-900)Ggg>Agg p.G300R PCDHA2_ENST00000520672.2_Missense_Mutation_p.G300R|PCDHA2_ENST00000378132.1_Missense_Mutation_p.G300R|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron NM_018905.2 NP_061728.1 NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1) 71 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TCCCATCTCAGGGGAAATCAG 0.433000 36 66 0 0 1 0 0 GABRA2 2555 broad.mit.edu 37 4 46252604 46252604 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:46252604G>A ENST00000510861.1 - 10 1250 c.1077C>T c.(1075-1077)tcC>tcT p.S359S GABRA2_ENST00000381620.4_Silent_p.S359S|GABRA2_ENST00000507069.1_Silent_p.S419S|GABRA2_ENST00000356504.1_Silent_p.S359S|GABRA2_ENST00000514090.1_Silent_p.S359S|GABRA2_ENST00000540012.1_Silent_p.S364S P47869 GBRA2_HUMAN gamma-aminobutyric acid (GABA) A receptor, alpha 2 359 gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 56 Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) GTATCATAACGGAAGCCTTTT 0.388000 37 83 0 0 1 0 0 AC096579.13 0 broad.mit.edu 37 2 89117923 89117923 + RNA SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:89117923C>T ENST00000452230.1 - 0 59 CTACCAGGATCCAGACCCAGA 0.468000 14 22 0 0 1 0 0 ALDOC 230 broad.mit.edu 37 17 26900872 26900872 + Nonsense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:26900872G>A ENST00000226253.4 - 8 1355 c.880C>T c.(880-882)Cga>Tga p.R294* RP11-192H23.5_ENST00000585189.1_RNA|ALDOC_ENST00000395321.2_Nonsense_Mutation_p.R294*|ALDOC_ENST00000395319.3_Nonsense_Mutation_p.R266* NM_005165.2 NP_005156.1 P09972 ALDOC_HUMAN aldolase C, fructose-bisphosphate 294 fructose 1,6-bisphosphate metabolic process|gluconeogenesis|glycolysis cytosol cytoskeletal protein binding|fructose-bisphosphate aldolase activity breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1) 11 Lung NSC(42;0.00431) GCCCAGGGTCGGGGAAGGGGG 0.602000 6 221 0 0 1 0 0 GABBR2 9568 broad.mit.edu 37 9 101470865 101470865 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:101470865C>T ENST00000259455.2 - 1 614 c.155G>A c.(154-156)aGc>aAc p.S52N NM_005458.7 NP_005449.5 O75899 GABR2_HUMAN gamma-aminobutyric acid (GABA) B receptor, 2 52 negative regulation of adenylate cyclase activity|synaptic transmission cell junction|integral to plasma membrane|postsynaptic membrane G-protein coupled receptor activity|GABA-B receptor activity NOTCH1_ENST00000277541/GABBR2(2) breast(4)|endometrium(4)|large_intestine(12)|lung(21)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1) 49 Acute lymphoblastic leukemia(62;0.0527) Baclofen(DB00181) CGGCGGGCTGCTgggcggcgg 0.766000 3 24 0 0 1 0 0 CHST9 83539 broad.mit.edu 37 18 24496536 24496536 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr18:24496536G>A ENST00000284224.8 - 6 1296 c.1019C>T c.(1018-1020)tCc>tTc p.S340F CHST9_ENST00000580774.1_3'UTR|AQP4-AS1_ENST00000582605.1_RNA|CHST9_ENST00000581714.1_Missense_Mutation_p.S340F|AQP4-AS1_ENST00000568797.1_RNA|AQP4-AS1_ENST00000578701.1_RNA|AQP4-AS1_ENST00000579964.1_RNA NM_031422.5 NP_113610.2 Q7L1S5 CHST9_HUMAN carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 9 340 carbohydrate biosynthetic process|glycosaminoglycan metabolic process|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process extracellular region|Golgi membrane|integral to membrane N-acetylgalactosamine 4-O-sulfotransferase activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|skin(3) 28 all_lung(6;0.0145)|Ovarian(20;0.124) TGGACGGTGGGAATCCAGCAA 0.398000 90 152 0 0 1 0 0 SLC9A9 285195 broad.mit.edu 37 3 143212563 143212563 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:143212563G>A ENST00000316549.6 - 11 1455 c.1247C>T c.(1246-1248)tCc>tTc p.S416F NM_173653.3 NP_775924.1 Q8IVB4 SL9A9_HUMAN solute carrier family 9, subfamily A (NHE9, cation proton antiporter 9), member 9 416 regulation of pH integral to membrane|late endosome membrane|recycling endosome sodium:hydrogen antiporter activity breast(2)|endometrium(5)|kidney(2)|large_intestine(13)|lung(29)|ovary(2)|skin(3)|stomach(1) 57 CAGGAGGAAGGAGAGGGGATA 0.423000 4 107 0 0 1 0 0 GRIA1 2890 broad.mit.edu 37 5 153144132 153144132 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:153144132G>A ENST00000285900.5 + 12 2305 c.1962G>A c.(1960-1962)gcG>gcA p.A654A GRIA1_ENST00000521843.2_Silent_p.A585A|GRIA1_ENST00000448073.4_Silent_p.A664A|GRIA1_ENST00000518783.1_Silent_p.A664A|GRIA1_ENST00000340592.5_Silent_p.A654A|GRIA1_ENST00000518142.1_Silent_p.A574A NM_000827.3|NM_001258019.1 NP_000818.2|NP_001244948.1 P42261 GRIA1_HUMAN glutamate receptor, ionotropic, AMPA 1 654 synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 81 Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21) Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785) Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236) AGGACCTAGCGAAGCAGACAG 0.507000 15 56 0 0 1 0 0 NISCH 11188 broad.mit.edu 37 3 52512224 52512224 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:52512224C>T ENST00000345716.4 + 10 1233 c.1099C>T c.(1099-1101)Cta>Tta p.L367L NISCH_ENST00000420808.2_Silent_p.L367L|NISCH_ENST00000479054.1_Silent_p.L367L|NISCH_ENST00000464280.1_3'UTR|NISCH_ENST00000488380.1_Silent_p.L367L NM_007184.3 NP_009115.2 Q9Y2I1 NISCH_HUMAN nischarin 367 Interaction with PAK1 (By similarity).|Necessary for homooligomerization and targeting to endosomes. apoptosis|cell communication cytosol|early endosome|plasma membrane|recycling endosome phosphatidylinositol binding|receptor activity NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 33 BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577) AGGCAACCTCCTAGAGAGTCT 0.542000 40 93 0 0 1 0 0 DSCAM 1826 broad.mit.edu 37 21 42080486 42080486 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr21:42080486G>A ENST00000400454.1 - 2 732 c.255C>T c.(253-255)ccC>ccT p.P85P NM_001389.3 NP_001380.2 O60469 DSCAM_HUMAN Down syndrome cell adhesion molecule 85 Ig-like C2-type 1. cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction protein binding NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4) 142 all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103) AAGGAGGGAAGGGGAAAATTT 0.493000 37 94 0 0 1 0 0 CTNNA3 29119 broad.mit.edu 37 10 67863003 67863003 + Missense_Mutation SNP G G T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:67863003G>T ENST00000433211.1 - 14 2063 c.1889C>A c.(1888-1890)cCa>cAa p.P630Q CTNNA3_ENST00000373744.4_Missense_Mutation_p.P630Q NM_013266.2 NP_037398.2 Q9UI47 CTNA3_HUMAN catenin (cadherin-associated protein), alpha 3 630 cell-cell adhesion actin cytoskeleton|cytoplasm|fascia adherens cadherin binding|structural molecule activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1) 95 CAGTTCCTCTGGGGTCTATAA 0.433000 6 73 8.12818e-05 8.15449e-05 1 1 0 RLF 6018 broad.mit.edu 37 1 40703262 40703262 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:40703262C>T ENST00000372771.4 + 8 2915 c.2888C>T c.(2887-2889)tCc>tTc p.S963F NM_012421.3 NP_036553.2 Q13129 RLF_HUMAN rearranged L-myc fusion 963 chromosome organization|DNA integration|DNA mediated transformation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent DNA binding|protein binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(18)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(4)|urinary_tract(2) 68 Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461) GGCTGTGGTTCCACATACAAA 0.403000 56 92 0 0 1 0 0 ANO8 57719 broad.mit.edu 37 19 17438295 17438295 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:17438295G>A ENST00000159087.4 - 15 2660 c.2502C>T c.(2500-2502)ttC>ttT p.F834F NM_020959.2 NP_066010.1 Q9HCE9 ANO8_HUMAN anoctamin 8 834 chloride channel complex chloride channel activity autonomic_ganglia(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(3) 27 TCAGCCAGGGGAAGAGGCGCT 0.687000 23 28 0 0 1 0 0 MYH4 4622 broad.mit.edu 37 17 10369979 10369979 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:10369979C>T ENST00000255381.2 - 3 194 c.84G>A c.(82-84)caG>caA p.Q28Q CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA NM_017533.2 NP_060003.2 Q9Y623 MYH4_HUMAN myosin, heavy chain 4, skeletal muscle 28 Myosin head-like. muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 149 AAGGCTTGTTCTGAGCTTCAA 0.498000 56 121 0 0 1 0 0 PCK1 5105 broad.mit.edu 37 20 56140527 56140527 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr20:56140527C>T ENST00000319441.4 + 10 1700 c.1536C>T c.(1534-1536)ttC>ttT p.F512F PCK1_ENST00000543666.1_Silent_p.F195F|PCK1_ENST00000535860.1_3'UTR NM_002591.3 NP_002582.3 P35558 PCKGC_HUMAN phosphoenolpyruvate carboxykinase 1 (soluble) 512 gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus cytosol|nucleus carboxylic acid binding|GTP binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 34 Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242) BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07) CCAAGATCTTCCATGTCAACT 0.557000 39 76 0 0 1 0 0 CNNM2 54805 broad.mit.edu 37 10 104814195 104814195 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:104814195C>T ENST00000369878.3 + 3 1999 c.1875C>T c.(1873-1875)ctC>ctT p.L625L CNNM2_ENST00000457502.2_Silent_p.L383L|CNNM2_ENST00000433628.2_Silent_p.L625L NM_017649.4 NP_060119.3 Q9H8M5 CNNM2_HUMAN cyclin M2 625 ion transport integral to membrane central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|urinary_tract(1) 19 Colorectal(252;0.103)|all_hematologic(284;0.152)|Breast(234;0.198) Epithelial(162;7.89e-09)|all cancers(201;1.82e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215) CACAGCTCCTCCTGGCCATGC 0.483000 OREG0020489 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 24 42 0 0 1 0 0 CD1E 913 broad.mit.edu 37 1 158325336 158325336 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:158325336G>A ENST00000444681.2 + 2 598 c.305G>A c.(304-306)gGg>gAg p.G102E CD1E_ENST00000368156.1_Intron|CD1E_ENST00000452291.2_Intron|CD1E_ENST00000368166.3_Intron|CD1E_ENST00000368165.3_Intron|CD1E_ENST00000434258.1_Missense_Mutation_p.G199E|CD1E_ENST00000368160.3_Missense_Mutation_p.G201E|CD1E_ENST00000368157.1_Intron|CD1E_ENST00000368155.3_Intron|CD1E_ENST00000368167.3_Missense_Mutation_p.G201E|CD1E_ENST00000368154.1_Intron|CD1E_ENST00000368164.3_Intron|CD1E_ENST00000368161.3_Missense_Mutation_p.G201E|CD1E_ENST00000368163.3_Missense_Mutation_p.G201E NM_001185114.1 NP_001172043.1 P15812 CD1E_HUMAN CD1e molecule 201 H -> R (in allele CD1E*05; dbSNP:rs2873587). antigen processing and presentation|immune response early endosome|Golgi membrane|integral to plasma membrane|late endosome|lysosomal lumen breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1) 49 all_hematologic(112;0.0378) ATGGAAGCAGGGGAGTCAGAA 0.453000 30 38 0 0 1 0 0 HERC2P3 283755 broad.mit.edu 37 15 20588632 20588632 + RNA SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr15:20588632C>T ENST00000428453.1 - 0 4118 central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 35 ACACTGAGTTCATTCTTCTTA 0.408000 12 102 0 0 1 0 0 IMPG2 50939 broad.mit.edu 37 3 100976537 100976537 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:100976537G>A ENST00000193391.7 - 10 1176 c.989C>T c.(988-990)tCc>tTc p.S330F NM_016247.3 NP_057331.2 Q9BZV3 IMPG2_HUMAN interphotoreceptor matrix proteoglycan 2 330 SEA 1. visual perception integral to membrane|proteinaceous extracellular matrix extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity p.S330C(1) NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 64 CACCTTGTTGGAGTGAAGGCT 0.433000 46 82 0 0 1 0 0 FAM196A 642938 broad.mit.edu 37 10 128973999 128973999 + Missense_Mutation SNP C C T rs142627987 byFrequency TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:128973999C>T ENST00000522781.1 - 4 1216 c.661G>A c.(661-663)Gat>Aat p.D221N DOCK1_ENST00000280333.6_Intron|FAM196A_ENST00000424811.2_Missense_Mutation_p.D221N NM_001039762.2 NP_001034851.1 Q6ZSG2 F196A_HUMAN family with sequence similarity 196, member A 221 p.D221Y(1) breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 30 AGCTGGTAATCGGGCTCTTCG 0.622000 22 41 0 0 1 0 0 TLK1 9874 broad.mit.edu 37 2 171917638 171917638 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:171917638G>A ENST00000442919.2 - 4 830 c.215C>T c.(214-216)tCc>tTc p.S72F TLK1_ENST00000431350.2_Missense_Mutation_p.S120F|TLK1_ENST00000360843.3_Missense_Mutation_p.S120F|TLK1_ENST00000521943.1_Missense_Mutation_p.S72F|TLK1_ENST00000434911.2_Missense_Mutation_p.S24F|TLK1_ENST00000486857.1_5'UTR NM_012290.4 NP_036422.3 Q9UKI8 TLK1_HUMAN tousled-like kinase 1 120 cell cycle|chromatin modification|intracellular protein transport|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus nucleus ATP binding|protein binding|protein serine/threonine kinase activity breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|liver(3)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 33 TCTTCCCCTGGATGATTCCGA 0.343000 25 69 0 0 1 0 0 MAP2K3 5606 broad.mit.edu 37 17 21207839 21207839 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:21207839G>A ENST00000342679.4 + 8 919 c.670G>A c.(670-672)Gat>Aat p.D224N MAP2K3_ENST00000316920.6_Missense_Mutation_p.D195N|MAP2K3_ENST00000361818.5_Missense_Mutation_p.D195N NM_145109.2 NP_659731.1 P46734 MP2K3_HUMAN mitogen-activated protein kinase kinase 3 224 Protein kinase. activation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of transcription, DNA-dependent|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity COAD - Colon adenocarcinoma(3;0.0131)|Colorectal(15;0.0553) CAAGACGATGGATGCCGGCTG 0.602000 4 109 0 0 1 0 0 RXRG 6258 broad.mit.edu 37 1 165379970 165379970 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:165379970G>A ENST00000359842.5 - 6 1184 c.882C>T c.(880-882)acC>acT p.T294T NM_001256570.1|NM_006917.4 NP_001243499.1|NP_008848.1 P48443 RXRG_HUMAN retinoid X receptor, gamma 294 Ligand-binding (By similarity). regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding endometrium(1)|kidney(3)|large_intestine(6)|lung(22)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 38 all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155) Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tretinoin(DB00755) GGTCCTCCAAGGTGAGGTCAG 0.463000 5 79 0 0 1 0 0 NUCB2 4925 broad.mit.edu 37 11 17323410 17323410 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:17323410C>T ENST00000529010.1 + 5 591 c.372C>T c.(370-372)tcC>tcT p.S124S NUCB2_ENST00000323688.6_Silent_p.S124S|NUCB2_ENST00000458064.2_Silent_p.S124S NM_005013.2 NP_005004.1 P80303 NUCB2_HUMAN nucleobindin 2 124 cytosol|ER-Golgi intermediate compartment|extracellular space|Golgi apparatus|plasma membrane calcium ion binding|DNA binding kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 14 AGTTGGATTCCCTTCAAGGTA 0.378000 27 24 0 0 1 0 0 SNHG14 104472715 broad.mit.edu 37 15 25430699 25430699 + RNA SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr15:25430699C>T ENST00000424208.1 + 0 560 NR_003305.1 TCCTGTCATCCTGGTATCCTG 0.582000 54 117 0 0 1 0 0 MYH6 4624 broad.mit.edu 37 14 23869929 23869929 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr14:23869929C>T ENST00000405093.3 - 13 1469 c.1399G>A c.(1399-1401)Gag>Aag p.E467K MYH6_ENST00000356287.3_Missense_Mutation_p.E467K NM_002471.3 NP_002462.2 P13533 MYH6_HUMAN myosin, heavy chain 6, cardiac muscle, alpha 467 Myosin head-like. adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 119 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441) TCGAAGATCTCGAAGCCAGCG 0.552000 28 53 0 0 1 0 0 EYA2 2139 broad.mit.edu 37 20 45771711 45771711 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr20:45771711C>T ENST00000327619.5 + 10 1276 c.902C>T c.(901-903)tCc>tTc p.S301F EYA2_ENST00000357410.3_Missense_Mutation_p.S301F|EYA2_ENST00000317304.6_Intron NM_005244.4 NP_005235.3 O00167 EYA2_HUMAN eyes absent homolog 2 (Drosophila) 301 DNA repair|histone dephosphorylation|mesodermal cell fate specification|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus magnesium ion binding|protein binding|protein tyrosine phosphatase activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 32 Myeloproliferative disorder(115;0.0241) ACCACGACGTCCGTGCGCATT 0.493000 32 54 0 0 1 0 0 NEFM 4741 broad.mit.edu 37 8 24772120 24772120 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:24772120G>A ENST00000221166.5 + 1 1596 c.814G>A c.(814-816)Gaa>Aaa p.E272K NEFM_ENST00000437366.2_Missense_Mutation_p.E272K|NEFM_ENST00000518131.1_Missense_Mutation_p.E272K|GS1-72M22.1_ENST00000607058.1_RNA|NEFM_ENST00000521540.1_3'UTR P07197 NFM_HUMAN neurofilament, medium polypeptide 272 Coil 2A.|Rod. neurofilament protein binding|structural constituent of cytoskeleton breast(3)|endometrium(7)|kidney(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|urinary_tract(1) 36 Prostate(55;0.157) UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375) GGCGCTGAAGGAAATCCGCTC 0.602000 40 47 0 0 1 0 0 PIK3AP1 118788 broad.mit.edu 37 10 98386594 98386594 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:98386594G>A ENST00000339364.5 - 10 1659 c.1540C>T c.(1540-1542)Cac>Tac p.H514Y PIK3AP1_ENST00000371110.2_Missense_Mutation_p.H336Y|PIK3AP1_ENST00000371109.3_Missense_Mutation_p.H113Y NM_152309.2 NP_689522.2 Q6ZUJ8 BCAP_HUMAN phosphoinositide-3-kinase adaptor protein 1 514 cytoplasm|plasma membrane NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(27)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4) 52 Colorectal(252;0.0442) Epithelial(162;6.29e-08)|all cancers(201;3.18e-06) TCCACCGTGTGATAAACATCT 0.547000 67 101 0 0 1 0 0 CUBN 8029 broad.mit.edu 37 10 16893235 16893235 + Splice_Site SNP T T G TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:16893235T>G ENST00000377833.4 - 60 9727 c.9663_splice c.e60+1 p.K3221_splice NM_001081.3 NP_001072.2 O60494 CUBN_HUMAN cubilin (intrinsic factor-cobalamin receptor) 3221 CUB 24. cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8) 241 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) CAGCCTTACCTTTACATAATC 0.353000 29 77 0 0 1 0 0 METTL25 84190 broad.mit.edu 37 12 82871078 82871078 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:82871078C>T ENST00000248306.3 + 11 1735 c.1666C>T c.(1666-1668)Ccc>Tcc p.P556S NM_032230.2 NP_115606.2 methyltransferase like 25 TGTACTGGCTCCCTGTATAGA 0.279000 35 87 0 0 1 0 0 GRB14 2888 broad.mit.edu 37 2 165381523 165381523 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:165381523C>T ENST00000263915.3 - 5 1207 c.669G>A c.(667-669)caG>caA p.Q223Q GRB14_ENST00000543549.1_Silent_p.Q136Q NM_004490.2 NP_004481.2 Q14449 GRB14_HUMAN growth factor receptor-bound protein 14 223 blood coagulation|leukocyte migration cytosol|endosome membrane|Golgi membrane|microsome|plasma membrane SH3/SH2 adaptor activity breast(3)|endometrium(2)|large_intestine(6)|lung(10)|ovary(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 32 CCTGCAAAATCTGTGTGGGGG 0.279000 32 74 0 0 1 0 0 TNR 7143 broad.mit.edu 37 1 175365897 175365897 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:175365897G>A ENST00000367674.1 - 5 1731 c.1023C>T c.(1021-1023)tcC>tcT p.S341S TNR_ENST00000263525.2_Silent_p.S341S NM_003285.2 NP_003276.3 Q92752 TENR_HUMAN tenascin R 341 Fibronectin type-III 1. axon guidance|cell adhesion|signal transduction proteinaceous extracellular matrix NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 177 Renal(580;0.146) CCAGCTCAATGGACCTGTCGC 0.607000 53 192 0 0 1 0 0 FAM26E 254228 broad.mit.edu 37 6 116833274 116833274 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:116833274G>A ENST00000368599.3 + 1 466 c.415G>A c.(415-417)Gaa>Aaa p.E139K TRAPPC3L_ENST00000368602.3_Intron|TRAPPC3L_ENST00000356128.4_Intron NM_153711.2 NP_714922.1 Q8N5C1 FA26E_HUMAN family with sequence similarity 26, member E 139 integral to membrane breast(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1) 7 all_cancers(87;0.0608)|all_epithelial(87;0.05)|Colorectal(196;0.234) GBM - Glioblastoma multiforme(226;0.0242)|all cancers(137;0.0419)|OV - Ovarian serous cystadenocarcinoma(136;0.0671)|Epithelial(106;0.212) AGGACTCCTGGAACTGATTTG 0.478000 50 31 0 0 1 0 0 SAMD9L 219285 broad.mit.edu 37 7 92763327 92763327 + Missense_Mutation SNP A A G TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:92763327A>G ENST00000318238.4 - 5 3174 c.1958T>C c.(1957-1959)tTg>tCg p.L653S SAMD9L_ENST00000437805.1_Missense_Mutation_p.L653S|SAMD9L_ENST00000411955.1_Missense_Mutation_p.L653S NM_152703.2 NP_689916.2 Q8IVG5 SAM9L_HUMAN sterile alpha motif domain containing 9-like 653 central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 88 all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989) STAD - Stomach adenocarcinoma(171;0.000302) CAGTGCAGTCAAGACATCCTC 0.398000 42 145 0 0 1 0 0 NR3C2 4306 broad.mit.edu 37 4 149356668 149356668 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:149356668G>A ENST00000355292.3 - 2 1707 c.1345C>T c.(1345-1347)Ccg>Tcg p.P449S NR3C2_ENST00000512865.1_Missense_Mutation_p.P449S|NR3C2_ENST00000511528.1_Missense_Mutation_p.P449S|NR3C2_ENST00000344721.4_Missense_Mutation_p.P449S|NR3C2_ENST00000358102.3_Missense_Mutation_p.P449S|NR3C2_ENST00000342437.4_Missense_Mutation_p.P449S P08235 MCR_HUMAN nuclear receptor subfamily 3, group C, member 2 449 Modulating. regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor endoplasmic reticulum membrane|nucleoplasm protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 41 all_hematologic(180;0.151) GBM - Glioblastoma multiforme(119;0.0614) Desoxycorticosterone Pivalate(DB01134)|Eplerenone(DB00700)|Fludrocortisone(DB00687)|Spironolactone(DB00421) AATGGAAACGGGTTTACTGTT 0.388000 32 80 0 0 1 0 0 ATF7IP2 80063 broad.mit.edu 37 16 10524713 10524713 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr16:10524713C>T ENST00000396560.2 + 3 463 c.236C>T c.(235-237)tCt>tTt p.S79F ATF7IP2_ENST00000543967.1_Intron|ATF7IP2_ENST00000396559.1_Missense_Mutation_p.S79F|ATF7IP2_ENST00000356427.2_Missense_Mutation_p.S79F|ATF7IP2_ENST00000324570.5_Missense_Mutation_p.S79F NM_024997.3 NP_079273.2 Q5U623 MCAF2_HUMAN activating transcription factor 7 interacting protein 2 79 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus large_intestine(3) 3 TCATTGGACTCTAATAAAAAT 0.348000 21 49 0 0 1 0 0 THOC2 57187 broad.mit.edu 37 X 122820477 122820477 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chrX:122820477G>A ENST00000245838.8 - 8 720 c.689C>T c.(688-690)tCt>tTt p.S230F THOC2_ENST00000355725.4_Missense_Mutation_p.S230F|THOC2_ENST00000491737.1_Missense_Mutation_p.S115F NM_001081550.1 NP_001075019.1 Q8NI27 THOC2_HUMAN THO complex 2 230 intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing THO complex part of transcription export complex protein binding|RNA binding breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3) 63 TTCTAACAAAGATATAAAGAA 0.363000 4 89 0 0 1 0 0 TSGA10IP 254187 broad.mit.edu 37 11 65714486 65714486 + RNA SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:65714486G>A ENST00000532620.1 + 0 514 Q3SY00 T10IP_HUMAN testis specific, 10 interacting protein endometrium(2)|kidney(3)|lung(9) 14 AGAGTCTGAAGAGTAAGCAGC 0.607000 4 63 0 0 1 0 0 IPO9 55705 broad.mit.edu 37 1 201838770 201838770 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:201838770C>T ENST00000361565.4 + 17 2126 c.2057C>T c.(2056-2058)tCc>tTc p.S686F NM_018085.4 NP_060555.2 Q96P70 IPO9_HUMAN importin 9 686 protein import into nucleus cytoplasm|nucleus histone binding|protein transporter activity cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 38 CCTCCCCTTTCCCAGCTTCTC 0.478000 13 144 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179611341 179611341 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:179611341C>T ENST00000360870.5 - 46 16008 c.15786G>A c.(15784-15786)ggG>ggA p.G5262G TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Intron|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000578746.1_RNA NM_133379.3 NP_596870.2 Q8WZ42 TITIN_HUMAN titin 8781 Ig-like 33. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TCTTTGCTTCCCCTATGATGT 0.423000 39 59 0 0 1 0 0 GCNT3 9245 broad.mit.edu 37 15 59911039 59911039 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr15:59911039C>T ENST00000396065.1 + 3 1050 c.602C>T c.(601-603)tCc>tTc p.S201F GCNT3_ENST00000560585.1_Missense_Mutation_p.S201F NM_004751.2 NP_004742.1 O95395 GCNT3_HUMAN glucosaminyl (N-acetyl) transferase 3, mucin type 201 protein O-linked glycosylation Golgi membrane|integral to membrane|membrane fraction beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity|N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 GCCTCCTGGTCCAGGGTGCAA 0.483000 67 116 0 0 1 0 0 ANO3 63982 broad.mit.edu 37 11 26547226 26547226 + Splice_Site SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:26547226G>A ENST00000256737.3 + 7 1589 c.737_splice c.e7+1 p.R246_splice ANO3_ENST00000531568.1_Splice_Site_p.R100_splice|ANO3_ENST00000525139.1_Splice_Site_p.R230_splice|ANO3_ENST00000537978.1_Splice_Site_p.R230_splice NM_031418.2 NP_113606.2 Q9BYT9 ANO3_HUMAN anoctamin 3 246 chloride channel complex chloride channel activity breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 68 TCAATGGGCAGGTTGGTGGGT 0.338000 19 27 0 0 1 0 0 EVL 51466 broad.mit.edu 37 14 100603978 100603978 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr14:100603978C>T ENST00000544450.2 + 10 1323 c.1040C>T c.(1039-1041)tCc>tTc p.S347F EVL_ENST00000392920.3_Missense_Mutation_p.S343F|EVL_ENST00000402714.2_Missense_Mutation_p.S341F Q9UI08 EVL_HUMAN Enah/Vasp-like 341 EVH2. actin polymerization or depolymerization|axon guidance|cell surface receptor linked signaling pathway|organ morphogenesis cytoskeleton|cytosol|focal adhesion|lamellipodium actin binding|profilin binding|SH3 domain binding cervix(1)|large_intestine(5)|lung(3)|ovary(3)|urinary_tract(2) 14 Melanoma(154;0.152) TCGATTCTGTCCAGGTGAGCT 0.597000 37 65 0 0 1 0 0 SOGA3 387104 broad.mit.edu 37 6 127797031 127797031 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:127797031C>T ENST00000556132.1 - 6 3004 c.2140G>A c.(2140-2142)Gag>Aag p.E714K SOGA3_ENST00000481848.2_Missense_Mutation_p.E714K|SOGA3_ENST00000465909.2_Missense_Mutation_p.E714K|SOGA3_ENST00000368268.2_Missense_Mutation_p.E714K|SOGA3_ENST00000525778.1_Missense_Mutation_p.E714K NM_001012279.2 NP_001012279.1 Q5TF21 CF174_HUMAN SOGA family member 3 714 integral to membrane CCGCTGAGCTCGTTGATCTGC 0.657000 52 108 0 0 1 0 0 BAZ1A 11177 broad.mit.edu 37 14 35252326 35252326 + Splice_Site SNP C C A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr14:35252326C>A ENST00000360310.1 - 16 2677 c.2111_splice c.e16+1 p.G704_splice BAZ1A_ENST00000358716.4_Splice_Site_p.G672_splice|BAZ1A_ENST00000382422.2_Splice_Site_p.G704_splice NM_013448.2 NP_038476.2 Q9NRL2 BAZ1A_HUMAN bromodomain adjacent to zinc finger domain, 1A 704 Interaction with SMARCA5. chromatin remodeling|regulation of transcription, DNA-dependent|transcription, DNA-dependent ACF complex zinc ion binding breast(2)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(2)|large_intestine(7)|lung(19)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 48 Breast(36;0.0388)|Hepatocellular(127;0.158) LUAD - Lung adenocarcinoma(48;7.23e-05)|Lung(238;0.00019)|Epithelial(34;0.0793)|all cancers(34;0.175) GBM - Glioblastoma multiforme(112;0.0659) AAACCATACCCAATAGATATA 0.313000 20 29 1.2644e-06 1.2699e-06 1 1 0 MSX1 4487 broad.mit.edu 37 4 4864663 4864663 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:4864663G>A ENST00000382723.4 + 2 939 c.705G>A c.(703-705)ctG>ctA p.L235L MSX1_ENST00000468421.1_3'UTR NM_002448.3 NP_002439.2 P28360 MSX1_HUMAN msh homeobox 1 229 apoptotic nuclear change|face morphogenesis|negative regulation of cell growth|odontogenesis of dentine-containing tooth|positive regulation of apoptosis|protein localization to nucleus|protein stabilization nucleus p53 binding|sequence-specific DNA binding transcription factor activity endometrium(3)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1) 11 UCEC - Uterine corpus endometrioid carcinoma (64;0.163) AGGCAGAGCTGGAGAAGCTGA 0.657000 4 76 0 0 1 0 0 GABBR2 9568 broad.mit.edu 37 9 101061526 101061526 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:101061526C>T ENST00000259455.2 - 17 2981 c.2522G>A c.(2521-2523)gGa>gAa p.G841E NM_005458.7 NP_005449.5 O75899 GABR2_HUMAN gamma-aminobutyric acid (GABA) B receptor, 2 841 negative regulation of adenylate cyclase activity|synaptic transmission cell junction|integral to plasma membrane|postsynaptic membrane G-protein coupled receptor activity|GABA-B receptor activity NOTCH1_ENST00000277541/GABBR2(2) breast(4)|endometrium(4)|large_intestine(12)|lung(21)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1) 49 Acute lymphoblastic leukemia(62;0.0527) Baclofen(DB00181) AGTGAAGTTTCCCAGGTTGAG 0.478000 91 216 0 0 1 0 0 FAM83C 128876 broad.mit.edu 37 20 33879756 33879756 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr20:33879756G>A ENST00000374408.3 - 1 448 c.352C>T c.(352-354)Ccc>Tcc p.P118S NM_178468.5 NP_848563.1 Q9BQN1 FA83C_HUMAN family with sequence similarity 83, member C 118 central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 40 BRCA - Breast invasive adenocarcinoma(18;0.00252) GAGGCCATGGGGAAGTAAGTC 0.677000 53 110 0 0 1 0 0 OR52N1 79473 broad.mit.edu 37 11 5809174 5809174 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:5809174G>A ENST00000317078.1 - 1 872 c.873C>T c.(871-873)aaC>aaT p.N291N TRIM5_ENST00000380027.1_Intron NM_001001913.1 NP_001001913.1 Q8NH53 O52N1_HUMAN olfactory receptor, family 52, subfamily N, member 1 291 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(15)|prostate(2)|skin(3) 31 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195) ACACAATAGGGTTCATTGTGG 0.393000 54 58 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9047166 9047166 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:9047166C>T ENST00000397910.4 - 5 34668 c.34465G>A c.(34465-34467)Gcc>Acc p.A11489T NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 11491 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 AGCTGTATGGCTGTTGTCTCT 0.493000 41 132 0 0 1 0 0 OR1F1 4992 broad.mit.edu 37 16 3254813 3254813 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr16:3254813C>T ENST00000304646.2 + 1 567 c.567C>T c.(565-567)tgC>tgT p.C189C AJ003147.9_ENST00000576468.1_RNA NM_012360.1 NP_036492.1 O43749 OR1F1_HUMAN olfactory receptor, family 1, subfamily F, member 1 189 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(1)|large_intestine(2)|lung(7) 11 AACTCTCCTGCTCAGACACAC 0.498000 49 105 0 0 1 0 0 GBP6 163351 broad.mit.edu 37 1 89834114 89834114 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:89834114G>A ENST00000370456.4 + 2 97 c.4G>A c.(4-6)Gaa>Aaa p.E2K GBP6_ENST00000535065.1_Intron NM_198460.2 NP_940862.2 Q6ZN66 GBP6_HUMAN guanylate binding protein family, member 6 2 GTP binding|GTPase activity breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 42 Lung NSC(277;0.0908) all cancers(265;0.0108)|Epithelial(280;0.0398) AGTTGCCATGGAATCTGGACC 0.443000 32 69 0 0 1 0 0 OR2L3 391192 broad.mit.edu 37 1 248224624 248224624 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:248224624C>T ENST00000359959.3 + 1 641 c.641C>T c.(640-642)tCa>tTa p.S214L OR2L13_ENST00000366478.2_Intron NM_001004687.1 NP_001004687.1 Q8NG85 OR2L3_HUMAN olfactory receptor, family 2, subfamily L, member 3 214 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(2)|large_intestine(7)|lung(28)|prostate(1)|skin(1)|urinary_tract(1) 41 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0278) ATTGCTATTTCATGTTCCTAT 0.512000 67 218 0 0 1 0 0 LRP10 26020 broad.mit.edu 37 14 23346620 23346620 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr14:23346620C>T ENST00000359591.4 + 7 2717 c.2026C>T c.(2026-2028)Cct>Tct p.P676S LRP10_ENST00000470660.1_Intron|LRP10_ENST00000546834.1_Intron NM_014045.3 NP_054764.2 Q7Z4F1 LRP10_HUMAN low density lipoprotein receptor-related protein 10 676 Pro-rich. endocytosis coated pit|integral to membrane central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(2) 32 all_cancers(95;4.69e-05) GBM - Glioblastoma multiforme(265;0.00549) CCGGAGCCCCCCTGGACCCCA 0.662000 37 66 0 0 1 0 0 ACE2 59272 broad.mit.edu 37 X 15580076 15580076 + Missense_Mutation SNP T T A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chrX:15580076T>A ENST00000427411.1 - 19 2586 c.2370A>T c.(2368-2370)gaA>gaT p.E790D ACE2_ENST00000252519.3_Missense_Mutation_p.E790D|ACE2_ENST00000471548.1_5'UTR NM_021804.2 NP_068576.1 Q9BYF1 ACE2_HUMAN angiotensin I converting enzyme 2 790 angiotensin-mediated drinking behavior|proteolysis|receptor biosynthetic process|regulation of cell proliferation|virion attachment, binding of host cell surface receptor cell surface|extracellular space|integral to membrane|membrane raft|plasma membrane carboxypeptidase activity|glycoprotein binding|metallopeptidase activity|peptidyl-dipeptidase activity|viral receptor activity|zinc ion binding endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1) 32 Hepatocellular(33;0.183) Moexipril(DB00691) CTGGATTATTTTCTCCTTTGC 0.323000 6 138 0 0 1 0 0 LRP1B 53353 broad.mit.edu 37 2 141122349 141122349 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:141122349C>T ENST00000389484.3 - 72 11983 c.11012G>A c.(11011-11013)gGa>gAa p.G3671E NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 3671 protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) ACATATATTTCCTCCTTTATT 0.378000 TSP Lung(27;0.18) 36 91 0 0 1 0 0 UPK1B 7348 broad.mit.edu 37 3 118906646 118906646 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:118906646G>A ENST00000264234.3 + 3 243 c.94G>A c.(94-96)Gag>Aag p.E32K RP11-484M3.5_ENST00000490594.1_Missense_Mutation_p.80_80insK|UPK1B_ENST00000497685.1_5'UTR|UPK1B_ENST00000460625.1_Missense_Mutation_p.E32K NM_006952.3 NP_008883.2 O75841 UPK1B_HUMAN uroplakin 1B 32 epithelial cell differentiation integral to membrane structural molecule activity breast(1)|endometrium(3)|large_intestine(2)|lung(6)|pancreas(1)|skin(1) 14 GBM - Glioblastoma multiforme(114;0.222) CCTGACTGCGGAGTGCATCTT 0.552000 85 157 0 0 1 0 0 RPRD2 23248 broad.mit.edu 37 1 150444046 150444046 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:150444046C>T ENST00000401000.4 + 10 2609 c.2544C>T c.(2542-2544)tcC>tcT p.S848S RPRD2_ENST00000492220.1_3'UTR|RPRD2_ENST00000369068.4_Silent_p.S874S|RPRD2_ENST00000539519.1_Silent_p.S848S Q5VT52 RPRD2_HUMAN regulation of nuclear pre-mRNA domain containing 2 874 Ser-rich. protein binding central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 37 CAATTCTGTCCAGTTATAGCC 0.498000 65 71 0 0 1 0 0 MXRA5 25878 broad.mit.edu 37 X 3239628 3239628 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chrX:3239628C>T ENST00000217939.6 - 5 4252 c.4098G>A c.(4096-4098)aaG>aaA p.K1366K NM_015419.3 NP_056234.2 Q9NR99 MXRA5_HUMAN matrix-remodelling associated 5 1366 extracellular region NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2) 157 all_lung(23;0.00031)|Lung NSC(23;0.000946) AGGATTCTTCCTTAAATTCTC 0.463000 13 29 0 0 1 0 0 BRICD5 283870 broad.mit.edu 37 16 2259472 2259472 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr16:2259472C>T ENST00000562360.1 - 5 673 c.674G>A c.(673-675)gGc>gAc p.G225D BRICD5_ENST00000328540.3_Intron BRICHOS domain containing 5 GGCGAGGGTGCCGTGAATCTC 0.632000 55 93 0 0 1 0 0 SRCAP 10847 broad.mit.edu 37 16 30736040 30736040 + Silent SNP T T G TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr16:30736040T>G ENST00000262518.4 + 25 5680 c.5295T>G c.(5293-5295)gcT>gcG p.A1765A SRCAP_ENST00000344771.4_Silent_p.A1607A|SRCAP_ENST00000395059.2_Silent_p.A1703A NM_006662.2 NP_006653.2 Q6ZRS2 SRCAP_HUMAN Snf2-related CREBBP activator protein 1765 Pro-rich. interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent Golgi apparatus|nucleus|protein complex ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5) 136 Colorectal(24;0.198) cagccccagctcacacgctga 0.622000 10 77 0 0 1 0 0 IPO9 55705 broad.mit.edu 37 1 201823994 201823994 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:201823994C>T ENST00000361565.4 + 8 923 c.854C>T c.(853-855)tCc>tTc p.S285F NM_018085.4 NP_060555.2 Q96P70 IPO9_HUMAN importin 9 285 protein import into nucleus cytoplasm|nucleus histone binding|protein transporter activity cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 38 CACATGGTGTCCTCCATGCAG 0.408000 54 64 0 0 1 0 0 NRXN1 9378 broad.mit.edu 37 2 50282133 50282133 + Silent SNP A A G TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:50282133A>G ENST00000404971.1 - 21 5227 c.3888T>C c.(3886-3888)taT>taC p.Y1296Y NRXN1_ENST00000405472.3_Silent_p.Y1248Y|NRXN1_ENST00000406859.3_Intron|NRXN1_ENST00000406316.2_Intron|NRXN1_ENST00000342183.5_Intron|NRXN1_ENST00000401669.2_Silent_p.Y1256Y|NRXN1_ENST00000402717.3_Silent_p.Y1248Y|NRXN1_ENST00000401710.1_Intron NM_001135659.1 NP_001129131.1 Q9ULB1 NRX1A_HUMAN neurexin 1 1239 adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition cell surface|integral to plasma membrane metal ion binding|protein binding|receptor activity breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 58 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192) Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116) GACCAAGTCGATATGGAATTC 0.343000 10 16 0 0 1 0 0 EPB41L4B 54566 broad.mit.edu 37 9 111962553 111962553 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:111962553G>A ENST00000374566.3 - 20 2525 c.2008C>T c.(2008-2010)Cct>Tct p.P670S NM_019114.3 NP_061987.3 Q9H329 E41LB_HUMAN erythrocyte membrane protein band 4.1 like 4B 670 cytoplasm|cytoskeleton|extrinsic to membrane cytoskeletal protein binding|structural constituent of cytoskeleton NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 ACTCGGGGAGGCTTGATTTCC 0.393000 20 61 0 0 1 0 0 WDR49 151790 broad.mit.edu 37 3 167240195 167240195 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:167240195C>T ENST00000308378.3 - 12 1931 c.1626G>A c.(1624-1626)aaG>aaA p.K542K WDR49_ENST00000479765.1_Intron|WDR49_ENST00000453925.2_Intron|WDR49_ENST00000476376.1_Silent_p.K367K NM_178824.3 NP_849146.1 Q8IV35 WDR49_HUMAN WD repeat domain 49 542 breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 50 AAGAAATTTCCTTTTGAATCT 0.318000 31 54 0 0 1 0 0 C2orf16 84226 broad.mit.edu 37 2 27802151 27802151 + Missense_Mutation SNP A A T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:27802151A>T ENST00000408964.2 + 1 2763 c.2712A>T c.(2710-2712)gaA>gaT p.E904D NM_032266.3 NP_115642.3 Q68DN1 CB016_HUMAN chromosome 2 open reading frame 16 904 breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1) 47 Acute lymphoblastic leukemia(172;0.155) CCACTATGGAAAGGAAGCTTT 0.428000 5 164 0 0 1 0 0 SBNO1 55206 broad.mit.edu 37 12 123808290 123808290 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:123808290G>A ENST00000420886.2 - 15 2061 c.2062C>T c.(2062-2064)Cca>Tca p.P688S SBNO1_ENST00000602750.1_Missense_Mutation_p.P687S|SBNO1_ENST00000602398.1_Missense_Mutation_p.P688S|SBNO1_ENST00000267176.4_Missense_Mutation_p.P687S NM_001167856.1 NP_001161328.1 A3KN83 SBNO1_HUMAN strawberry notch homolog 1 (Drosophila) 688 ATP binding|DNA binding|hydrolase activity NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2) 62 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197) TTGTTACTTGGAGCTGTCAAA 0.383000 22 49 0 0 1 0 0 CD79B 974 broad.mit.edu 37 17 62007527 62007527 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:62007527G>A ENST00000006750.3 - 3 429 c.337C>T c.(337-339)Cgg>Tgg p.R113W CD79B_ENST00000349817.2_Intron|CD79B_ENST00000392795.3_Missense_Mutation_p.R114W NM_000626.2|NM_021602.2 NP_000617.1|NP_067613.1 P40259 CD79B_HUMAN CD79b molecule, immunoglobulin-associated beta 113 Ig-like V-type. cell surface receptor linked signaling pathway|immune response Golgi apparatus|integral to plasma membrane|nucleus transmembrane receptor activity breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(6)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1) 15 TCCTCAAACCGGATGCCTTGG 0.572000 """Mis, O""" DLBCL 8 122 0 0 1 0 0 MSLN 10232 broad.mit.edu 37 16 812732 812732 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr16:812732C>T ENST00000566549.1 + 2 469 c.52C>T c.(52-54)Ctc>Ttc p.L18F MSLN_ENST00000563941.1_Missense_Mutation_p.L18F|MSLN_ENST00000382862.3_Missense_Mutation_p.L18F|MSLN_ENST00000545450.2_Missense_Mutation_p.L18F Q13421 MSLN_HUMAN mesothelin 18 TPAL -> DRP (in Ref. 2; AAC50348). cell adhesion anchored to membrane|extracellular region|Golgi apparatus|plasma membrane breast(2)|kidney(2)|lung(11)|pancreas(1)|prostate(1)|skin(3) 20 Hepatocellular(780;0.00335) GACCCCCGCCCTCGGCAGCCT 0.692000 5 280 0 0 1 0 0 VWA3B 200403 broad.mit.edu 37 2 98928496 98928496 + Splice_Site SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:98928496G>A ENST00000477737.1 + 27 3939 c.e27+1 VWA3B_ENST00000490947.2_Intron NM_144992.4 NP_659429.4 Q502W6 VWA3B_HUMAN von Willebrand factor A domain containing 3B NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 70 CGAGCCCAGGGTTTGGGTGAT 0.602000 7 13 0 0 1 0 0 AMER3 205147 broad.mit.edu 37 2 131519767 131519767 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:131519767C>T ENST00000423981.1 + 2 232 c.122C>T c.(121-123)cCa>cTa p.P41L AMER3_ENST00000321420.4_Missense_Mutation_p.P41L NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2 NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2 APC membrane recruitment protein 3 TCAGTCCTTCCAGGAGGGCAA 0.647000 10 20 0 0 1 0 0 PARD3B 117583 broad.mit.edu 37 2 205990405 205990405 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:205990405G>A ENST00000406610.2 + 10 1585 c.1378G>A c.(1378-1380)Gag>Aag p.E460K PARD3B_ENST00000349953.3_Missense_Mutation_p.E460K|PARD3B_ENST00000358768.2_Missense_Mutation_p.E460K|PARD3B_ENST00000351153.1_Missense_Mutation_p.E460K|PARD3B_ENST00000462231.1_Missense_Mutation_p.E460K NM_057177.6|NM_152526.5|NM_205863.3 NP_476518.4|NP_689739.4|NP_995585.2 Q8TEW8 PAR3L_HUMAN par-3 family cell polarity regulator beta 460 PDZ 2. cell cycle|cell division endomembrane system|tight junction breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4) 65 all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06) Epithelial(149;0.0739) CAAGCAGGGGGAGACAGCATC 0.498000 49 95 0 0 1 0 0 PRB3 5544 broad.mit.edu 37 12 11421082 11421082 + RNA SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:11421082C>T ENST00000381842.3 - 0 138 PRB3_ENST00000440870.3_RNA|PRB3_ENST00000279573.6_RNA|PRB3_ENST00000538488.1_RNA NM_006249.4 NP_006240.4 Q04118 PRB3_HUMAN proline-rich protein BstNI subfamily 3 extracellular region Gram-negative bacterial cell surface binding breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(5) 25 OV - Ovarian serous cystadenocarcinoma(49;0.201) TTCTGGCTTTCCTGGAGGAGG 0.532000 40 80 0 0 1 0 0 GRID1 2894 broad.mit.edu 37 10 87362379 87362379 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:87362379G>A ENST00000327946.7 - 16 2766 c.2681C>T c.(2680-2682)tCc>tTc p.S894F GRID1_ENST00000536331.1_Missense_Mutation_p.S465F|GRID1_ENST00000552278.2_5'UTR NM_017551.2 NP_060021.1 Q9ULK0 GRID1_HUMAN glutamate receptor, ionotropic, delta 1 894 cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5) 106 L-Glutamic Acid(DB00142) CGACGCTGGGGAAATCTGCTT 0.592000 Multiple Myeloma(13;0.14) 11 28 0 0 1 0 0 CHD5 26038 broad.mit.edu 37 1 6206743 6206743 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:6206743G>A ENST00000262450.3 - 10 1671 c.1572C>T c.(1570-1572)tcC>tcT p.S524S CHD5_ENST00000378021.1_5'UTR NM_015557.2 NP_056372.1 Q8TDI0 CHD5_HUMAN chromodomain helicase DNA binding protein 5 524 Chromo 1. chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2) 16 Ovarian(185;0.0634) all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15) Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193) CCTTCACCCAGGAGCAATGCC 0.652000 25 49 0 0 1 0 0 PCSK5 5125 broad.mit.edu 37 9 78842419 78842419 + Splice_Site SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:78842419G>A ENST00000545128.1 + 21 3165 c.2626_splice c.e21-1 p.G876_splice NM_001190482.1 NP_001177411.1 Q92824 PCSK5_HUMAN proprotein convertase subtilisin/kexin type 5 876 PLAC. anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release extracellular space|Golgi lumen|stored secretory granule peptide binding|serine-type endopeptidase activity NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 55 TGTTCCCCAGGAGAATATGTT 0.527000 14 20 0 0 1 0 0 CXorf27 25763 broad.mit.edu 37 X 37850173 37850173 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chrX:37850173C>T ENST00000341016.3 + 1 104 c.81C>T c.(79-81)gtC>gtT p.V27V TM4SF2_ENST00000465127.1_Intron NM_012274.1 NP_036406.1 O75409 HYPM_HUMAN chromosome X open reading frame 27 27 DNA binding central_nervous_system(2)|endometrium(3)|large_intestine(1)|lung(2) 8 AGCTACAGGTCCCTAGGAGCT 0.468000 23 13 0 0 1 0 0 C6 729 broad.mit.edu 37 5 41153918 41153918 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:41153918C>T ENST00000263413.3 - 15 2548 c.2284G>A c.(2284-2286)Gaa>Aaa p.E762K C6_ENST00000337836.5_Missense_Mutation_p.E762K NM_001115131.1 NP_001108603.2 P13671 CO6_HUMAN complement component 6 762 C5b-binding domain.|Sushi 2. complement activation, classical pathway|cytolysis|innate immune response membrane attack complex protein binding central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2) 96 Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157) TCACCTTTTTCACAGGTGAGA 0.478000 27 103 0 0 1 0 0 TMEFF1 8577 broad.mit.edu 37 9 103271299 103271299 + Missense_Mutation SNP T T C TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:103271299T>C ENST00000374879.4 + 3 751 c.319T>C c.(319-321)Tat>Cat p.Y107H TMEFF1_ENST00000334943.6_Missense_Mutation_p.Y68H|MSANTD3-TMEFF1_ENST00000502978.1_Missense_Mutation_p.L70S NM_003692.4 NP_003683.2 transmembrane protein with EGF-like and two follistatin-like domains 1 NS(1)|kidney(1)|large_intestine(7)|lung(9)|stomach(1) 19 Acute lymphoblastic leukemia(62;0.0452) CCATACAAATTATATTCCTGT 0.343000 37 75 0 0 1 0 0 XPNPEP1 7511 broad.mit.edu 37 10 111643893 111643893 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:111643893G>A ENST00000502935.1 - 9 881 c.762C>T c.(760-762)ctC>ctT p.L254L XPNPEP1_ENST00000430337.1_5'UTR|XPNPEP1_ENST00000369683.1_Silent_p.L140L|XPNPEP1_ENST00000369680.4_Silent_p.L211L|XPNPEP1_ENST00000322238.8_Silent_p.L254L Q9NQW7 XPP1_HUMAN X-prolyl aminopeptidase (aminopeptidase P) 1, soluble 211 bradykinin catabolic process|proteolysis manganese ion binding|metalloaminopeptidase activity|protein homodimerization activity endometrium(2)|kidney(9)|large_intestine(4)|lung(9)|ovary(3)|pancreas(2)|skin(1)|urinary_tract(1) 31 Breast(234;0.174) Epithelial(162;1.64e-05)|all cancers(201;0.000564)|BRCA - Breast invasive adenocarcinoma(275;0.0721) CTGATCCTCGGAGATTAAATA 0.463000 OREG0020527 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 46 101 0 0 1 0 0 LOC442028 442028 broad.mit.edu 37 2 95552679 95552679 + RNA SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:95552679C>T ENST00000568768.1 - 0 476 CCTCATGTATCTCTGCCCAGG 0.368000 27 39 0 0 1 0 0 MUC17 140453 broad.mit.edu 37 7 100685772 100685772 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:100685772G>A ENST00000306151.4 + 3 11139 c.11075G>A c.(11074-11076)gGa>gAa p.G3692E NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 3692 59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) CCTAGTGAAGGAAGCACTCCA 0.522000 121 387 0 0 1 0 0 APBB1IP 54518 broad.mit.edu 37 10 26790008 26790008 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:26790008C>T ENST00000376236.4 + 5 876 c.421C>T c.(421-423)Ctg>Ttg p.L141L APBB1IP_ENST00000356785.4_Silent_p.L141L NM_019043.3 NP_061916.3 Q7Z5R6 AB1IP_HUMAN amyloid beta (A4) precursor protein-binding, family B, member 1 interacting protein 141 Pro-rich. blood coagulation|signal transduction cytoskeleton|cytosol|focal adhesion|lamellipodium central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(27)|skin(7)|upper_aerodigestive_tract(1) 45 AGACCTTCCACTGCCACCACC 0.507000 77 126 0 0 1 0 0 WWC1 23286 broad.mit.edu 37 5 167891839 167891839 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:167891839G>A ENST00000265293.4 + 21 3524 c.3022G>A c.(3022-3024)Gag>Aag p.E1008K WWC1_ENST00000522140.1_3'UTR|WWC1_ENST00000521089.1_Missense_Mutation_p.E1014K NM_001161661.1|NM_001161662.1|NM_015238.2 NP_001155133.1|NP_001155134.1|NP_056053.1 Q8IX03 KIBRA_HUMAN WW and C2 domain containing 1 1008 Interaction with histone H3. cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus|perinuclear region of cytoplasm|ruffle membrane protein binding|transcription coactivator activity breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4) 43 Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166) Medulloblastoma(196;0.0399)|all_neural(177;0.0577) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918) ATTGACCCAGGAGATCTCGGT 0.607000 27 62 0 0 1 0 0 FLNB 2317 broad.mit.edu 37 3 58145287 58145287 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:58145287G>A ENST00000295956.4 + 42 7060 c.6895G>A c.(6895-6897)Gga>Aga p.G2299R FLNB_ENST00000358537.3_Missense_Mutation_p.G2275R|FLNB_ENST00000429972.2_Missense_Mutation_p.G2288R|FLNB_ENST00000419752.2_Missense_Mutation_p.G2119R|FLNB_ENST00000357272.4_3'UTR|FLNB_ENST00000348383.5_Missense_Mutation_p.G2258R|FLNB_ENST00000493452.1_Missense_Mutation_p.G2106R|FLNB_ENST00000490882.1_Missense_Mutation_p.G2330R NM_001457.3 NP_001448.2 O75369 FLNB_HUMAN filamin B, beta 2299 Interaction with INPPL1. actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction cell cortex|integral to membrane|nucleus|sarcomere actin binding NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5) 120 BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898) TCAGGAATCGGGATTAAAAGT 0.502000 35 88 0 0 1 0 0 MAGED1 9500 broad.mit.edu 37 X 51640092 51640092 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chrX:51640092C>T ENST00000375695.2 + 5 1662 c.1509C>T c.(1507-1509)aaC>aaT p.N503N MAGED1_ENST00000375772.3_Silent_p.N447N|MAGED1_ENST00000326587.7_Silent_p.N447N|MAGED1_ENST00000375722.1_Silent_p.N447N|MAGED1_ENST00000494718.1_3'UTR NM_001005333.1 NP_001005333.1 Q9Y5V3 MAGD1_HUMAN melanoma antigen family D, 1 447 MAGE. apoptosis|induction of apoptosis by extracellular signals|negative regulation of epithelial cell proliferation|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent cytoplasm|plasma membrane|protein complex protein binding breast(1)|endometrium(4)|large_intestine(10)|lung(13)|ovary(3)|upper_aerodigestive_tract(1) 32 Ovarian(276;0.236) CCTCGCCTAACCTGCGCCCTT 0.602000 Multiple Myeloma(10;0.10) 14 11 0 0 1 0 0 ZNF285 26974 broad.mit.edu 37 19 44891610 44891610 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:44891610C>T ENST00000330997.4 - 4 861 c.797G>A c.(796-798)gGa>gAa p.G266E ZNF285_ENST00000591679.1_Missense_Mutation_p.G273E|CTC-512J12.6_ENST00000588212.1_Intron|ZNF285_ENST00000544719.2_Missense_Mutation_p.G266E NM_152354.3 NP_689567.3 zinc finger protein 285 breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|prostate(5)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 44 AAAGTTCTTTCCATACTGGTC 0.433000 67 143 0 0 1 0 0 IGHG1 3500 broad.mit.edu 37 14 106208522 106208522 + RNA SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr14:106208522G>A ENST00000390548.2 - 0 377 GTTTTGGGGGGAAGAGGAAGA 0.612000 32 72 0 0 1 0 0 MYO5B 4645 broad.mit.edu 37 18 47432994 47432994 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr18:47432994C>T ENST00000285039.7 - 19 2508 c.2209G>A c.(2209-2211)Gac>Aac p.D737N NM_001080467.2 NP_001073936.1 Q9ULV0 MYO5B_HUMAN myosin VB 737 Myosin head-like. protein transport myosin complex actin binding|ATP binding|calmodulin binding|motor activity NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4) 87 READ - Rectum adenocarcinoma(32;0.103) TGGAACTTGTCGGGGTCCTTT 0.552000 19 64 0 0 1 0 0 IGFN1 91156 broad.mit.edu 37 1 201182679 201182679 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:201182679G>A ENST00000335211.4 + 12 8788 c.8658G>A c.(8656-8658)agG>agA p.R2886R IGFN1_ENST00000295591.8_Silent_p.R46R|IGFN1_ENST00000451870.2_Silent_p.R429R NM_001164586.1 NP_001158058.1 immunoglobulin-like and fibronectin type III domain containing 1 autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 ATGGAGAGAGGAGAGATGCTA 0.562000 6 192 0 0 1 0 0 RSBN1 54665 broad.mit.edu 37 1 114310926 114310926 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:114310926G>A ENST00000261441.5 - 5 1807 c.1744C>T c.(1744-1746)Cat>Tat p.H582Y NM_018364.3 NP_060834.2 Q5VWQ0 RSBN1_HUMAN round spermatid basic protein 1 582 nucleus breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(3)|urinary_tract(2) 29 Lung SC(450;0.184) all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) TGATCAGCATGAGCTCTAGTC 0.438000 38 81 0 0 1 0 0 KRTAP19-8 728299 broad.mit.edu 37 21 32410571 32410571 + Nonstop_Mutation SNP T T G TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr21:32410571T>G ENST00000382822.2 - 1 224 c.192A>C c.(190-192)tgA>tgC p.*64C NM_001099219.1 NP_001092689.1 Q3LI54 KR198_HUMAN keratin associated protein 19-8 0 intermediate filament endometrium(2)|upper_aerodigestive_tract(1) 3 AGTTCACTCTTCAGTAGAAGG 0.473000 38 145 0 0 1 0 0 SLC17A4 10050 broad.mit.edu 37 6 25770670 25770670 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:25770670G>A ENST00000377905.4 + 5 709 c.590G>A c.(589-591)aGg>aAg p.R197K SLC17A4_ENST00000439485.2_Intron|SLC17A4_ENST00000397076.2_Intron NM_005495.2 NP_005486.1 Q9Y2C5 S17A4_HUMAN solute carrier family 17, member 4 197 phosphate metabolic process integral to plasma membrane|membrane fraction sodium:phosphate symporter activity breast(4)|endometrium(1)|kidney(4)|large_intestine(3)|lung(21)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 CCACTGGAAAGGAGTCAACTC 0.468000 50 189 0 0 1 0 0 STK16 8576 broad.mit.edu 37 2 220111939 220111939 + Missense_Mutation SNP G G C TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:220111939G>C ENST00000409638.3 + 4 583 c.411G>C c.(409-411)gaG>gaC p.E137D STK16_ENST00000409743.1_Missense_Mutation_p.E137D|STK16_ENST00000396738.2_Missense_Mutation_p.E137D|STK16_ENST00000409260.1_Missense_Mutation_p.E182D|STK16_ENST00000409516.3_Intron|STK16_ENST00000486813.1_3'UTR NM_001008910.2 NP_001008910.1 O75716 STK16_HUMAN serine/threonine kinase 16 137 Protein kinase. protein complex assembly membrane ATP binding|protein binding|protein serine/threonine kinase activity skin(1) 1 Renal(207;0.0474) Epithelial(149;1.2e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) GAGGCCTTGAGGCCATTCATG 0.567000 9 83 0 0 1 0 0 CCDC125 202243 broad.mit.edu 37 5 68609866 68609866 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:68609866C>T ENST00000396496.2 - 3 419 c.312G>A c.(310-312)tcG>tcA p.S104S CCDC125_ENST00000460090.1_Intron|CCDC125_ENST00000383374.2_Silent_p.S103S|CCDC125_ENST00000396499.1_Silent_p.S104S|CCDC125_ENST00000511257.1_5'UTR Q86Z20 CC125_HUMAN coiled-coil domain containing 125 104 cytoplasm breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(7)|urinary_tract(1) 19 Lung NSC(167;7.26e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;2.2e-56)|Epithelial(20;2.31e-52)|all cancers(19;5.85e-48)|Lung(70;0.0183) ATTCTGAATTCGAATCTACTT 0.308000 53 109 0 0 1 0 0 DNAH11 8701 broad.mit.edu 37 7 21940674 21940674 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:21940674G>A ENST00000328843.6 + 83 13405 c.13374G>A c.(13372-13374)aaG>aaA p.K4458K CDCA7L_ENST00000406877.3_3'UTR|CDCA7L_ENST00000356195.5_3'UTR|DNAH11_ENST00000409508.3_Silent_p.K4451K Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 4458 microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 230 CCCGTCTCAAGGAGCTGGCAT 0.532000 Kartagener syndrome 85 192 0 0 1 0 0 MYO1B 4430 broad.mit.edu 37 2 192225374 192225374 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:192225374C>T ENST00000392318.3 + 8 827 c.580C>T c.(580-582)Cgg>Tgg p.R194W MYO1B_ENST00000304164.4_Missense_Mutation_p.R194W|MYO1B_ENST00000392316.1_Missense_Mutation_p.R194W|MYO1B_ENST00000339514.4_Missense_Mutation_p.R194W NM_001130158.1 NP_001123630.1 O43795 MYO1B_HUMAN myosin IB 194 Myosin head-like. myosin complex actin binding|ATP binding|calmodulin binding|motor activity NS(1)|central_nervous_system(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(19)|ovary(1) 55 OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236) AGAGAAATCTCGGGTTGTTAA 0.388000 13 241 0 0 1 0 0 POTEE 445582 broad.mit.edu 37 2 132021641 132021641 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:132021641C>T ENST00000356920.5 + 15 2707 c.2613C>T c.(2611-2613)ctC>ctT p.L871L PLEKHB2_ENST00000303908.3_Intron|POTEE_ENST00000358087.5_3'UTR|PLEKHB2_ENST00000404460.1_Intron NM_001083538.1 NP_001077007.1 Q6S8J3 POTEE_HUMAN POTE ankyrin domain family, member E 871 Actin-like. ATP binding GGAATGCCCTCCCCCATGCCA 0.622000 40 101 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9061816 9061816 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:9061816G>A ENST00000397910.4 - 3 25833 c.25630C>T c.(25630-25632)Cct>Tct p.P8544S NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 8546 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 ACATCTCCAGGAGTTCTACTC 0.502000 4 85 0 0 1 0 0 GRM3 2913 broad.mit.edu 37 7 86468454 86468454 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:86468454G>A ENST00000361669.2 + 4 2723 c.1624G>A c.(1624-1626)Gat>Aat p.D542N GRM3_ENST00000546348.1_Missense_Mutation_p.D134N|GRM3_ENST00000536043.1_Missense_Mutation_p.D414N|GRM3_ENST00000394720.2_Intron|GRM3_ENST00000439827.1_Intron NM_000840.2 NP_000831.2 Q14832 GRM3_HUMAN glutamate receptor, metabotropic 3 542 synaptic transmission integral to plasma membrane NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5) 109 Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142) Acamprosate(DB00659)|Nicotine(DB00184) ATACCTGGCTGATGAGTTTAC 0.532000 104 212 0 0 1 0 0 KCNAB1 7881 broad.mit.edu 37 3 155838474 155838474 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:155838474G>A ENST00000490337.1 + 1 138 c.74G>A c.(73-75)gGg>gAg p.G25E KCNAB1_ENST00000389636.5_Missense_Mutation_p.G25E NM_172160.2 NP_751892.1 Q14722 KCAB1_HUMAN potassium voltage-gated channel, shaker-related subfamily, beta member 1 25 cytoplasm|integral to membrane oxidoreductase activity|potassium channel regulator activity|voltage-gated potassium channel activity breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 28 LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465) AGACAGTCTGGGTTTTCTGTA 0.542000 63 123 0 0 1 0 0 FBN2 2201 broad.mit.edu 37 5 127728980 127728980 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:127728980C>T ENST00000508053.1 - 16 2287 c.1313G>A c.(1312-1314)gGg>gAg p.G438E FBN2_ENST00000508989.1_Missense_Mutation_p.G405E|FBN2_ENST00000262464.4_Missense_Mutation_p.G438E P35556 FBN2_HUMAN fibrillin 2 438 bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation microfibril calcium ion binding|extracellular matrix structural constituent NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 197 all_cancers(142;0.0216)|Prostate(80;0.0551) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146) GCCATTTCCCCCAGTGCCTCC 0.537000 37 81 0 0 1 0 0 SNAP25 6616 broad.mit.edu 37 20 10273567 10273567 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr20:10273567C>T ENST00000304886.2 + 5 409 c.201C>T c.(199-201)atC>atT p.I67I SNAP25-AS1_ENST00000453544.1_RNA|SNAP25-AS1_ENST00000421143.2_RNA|SNAP25_ENST00000254976.2_Intron NM_003081.3 NP_003072.2 P60880 SNP25_HUMAN synaptosomal-associated protein, 25kDa 67 Interaction with CENPF (By similarity).|t-SNARE coiled-coil homology 1. energy reserve metabolic process|glutamate secretion|neurotransmitter uptake|synaptic vesicle docking involved in exocytosis cell junction|growth cone|perinuclear region of cytoplasm|synapse|synaptosome endometrium(1)|large_intestine(2)|lung(8)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 18 Botulinum Toxin Type A(DB00083) TGAACCATATCAACCAAGACA 0.423000 46 97 0 0 1 0 0 C2orf62 375307 broad.mit.edu 37 2 219229381 219229381 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:219229381G>A ENST00000289388.3 + 7 690 c.661G>A c.(661-663)Gac>Aac p.D221N C2orf62_ENST00000481940.1_Intron NM_198559.1 NP_940961.1 Q7Z7H3 CB062_HUMAN chromosome 2 open reading frame 62 221 endometrium(4)|kidney(2)|large_intestine(4)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 16 Renal(207;0.0915) Epithelial(149;8.08e-07)|all cancers(144;0.000146)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) CATCCAGGTAGACCATCAGCA 0.592000 49 101 0 0 1 0 0 WDR52 55779 broad.mit.edu 37 3 113092365 113092365 + Silent SNP G G A rs150695313 byFrequency TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:113092365G>A ENST00000393845.2 - 18 2403 c.2337C>T c.(2335-2337)ttC>ttT p.F779F WDR52_ENST00000295868.2_Silent_p.F779F NM_001164496.1 NP_001157968.1 Q96MT7 WDR52_HUMAN WD repeat domain 52 779 breast(2)|central_nervous_system(3)|endometrium(3)|kidney(5)|large_intestine(7)|lung(26)|prostate(1)|urinary_tract(2) 49 CACAAGGGGGGAACTCACAGT 0.383000 25 40 0 0 1 0 0 FGD2 221472 broad.mit.edu 37 6 36990135 36990135 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:36990135G>A ENST00000274963.8 + 13 1618 c.1447G>A c.(1447-1449)Gcc>Acc p.A483T NM_173558.3 NP_775829.2 Q7Z6J4 FGD2_HUMAN FYVE, RhoGEF and PH domain containing 2 483 actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction cytoskeleton|cytosol|early endosome membrane|Golgi apparatus|lamellipodium|nucleus|ruffle membrane metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1) 25 CCACTGCCGGGCCTGCGGCTA 0.667000 25 66 0 0 1 0 0 COL11A1 1301 broad.mit.edu 37 1 103463909 103463909 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:103463909C>T ENST00000358392.2 - 25 2506 c.2189G>A c.(2188-2190)gGa>gAa p.G730E COL11A1_ENST00000353414.4_Missense_Mutation_p.G679E|COL11A1_ENST00000512756.1_Missense_Mutation_p.G602E|COL11A1_ENST00000370096.3_Missense_Mutation_p.G718E NM_080629.2 NP_542196.2 P12107 COBA1_HUMAN collagen, type XI, alpha 1 718 Triple-helical region. collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception collagen type XI extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1) 258 all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181) Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248) TCCTGGTTTTCCTTGTGGTCC 0.308000 14 51 0 0 1 0 0 PCSK5 5125 broad.mit.edu 37 9 78804067 78804067 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:78804067G>A ENST00000545128.1 + 19 2976 c.2438G>A c.(2437-2439)aGa>aAa p.R813K PCSK5_ENST00000376752.4_Missense_Mutation_p.R813K NM_001190482.1 NP_001177411.1 Q92824 PCSK5_HUMAN proprotein convertase subtilisin/kexin type 5 813 CRM (Cys-rich motif). anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release extracellular space|Golgi lumen|stored secretory granule peptide binding|serine-type endopeptidase activity NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 55 GAGGATGGGAGATGCGTGCAG 0.473000 34 70 0 0 1 0 0 KDELC1 79070 broad.mit.edu 37 13 103450924 103450924 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr13:103450924C>T ENST00000376004.4 - 1 433 c.97G>A c.(97-99)Gaa>Aaa p.E33K KDELC1_ENST00000460338.1_5'UTR NM_024089.2 NP_076994.2 Q6UW63 KDEL1_HUMAN KDEL (Lys-Asp-Glu-Leu) containing 1 33 endoplasmic reticulum lumen central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(1) 19 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211) CCCCATATTTCGCTCTTCTCC 0.517000 6 55 0 0 1 0 0 SLCO2A1 6578 broad.mit.edu 37 3 133667447 133667447 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:133667447G>A ENST00000310926.4 - 8 1311 c.1038C>T c.(1036-1038)tcC>tcT p.S346S SLCO2A1_ENST00000493729.1_Silent_p.S270S NM_005630.2 NP_005621.2 Q92959 SO2A1_HUMAN solute carrier organic anion transporter family, member 2A1 346 sodium-independent organic anion transport integral to plasma membrane|membrane fraction prostaglandin transmembrane transporter activity|protein binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(2) 30 TGAGGAAGGTGGAGAGGCCAG 0.572000 79 135 0 0 1 0 0 REPS1 85021 broad.mit.edu 37 6 139237068 139237068 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:139237068G>A ENST00000450536.2 - 14 2221 c.1647C>T c.(1645-1647)ccC>ccT p.P549P REPS1_ENST00000409812.2_Intron|REPS1_ENST00000258062.5_Silent_p.P548P|REPS1_ENST00000367663.4_Silent_p.P522P|REPS1_ENST00000415951.2_Silent_p.P522P Q96D71 REPS1_HUMAN RALBP1 associated Eps domain containing 1 549 Pro-rich. coated pit|plasma membrane calcium ion binding|SH3 domain binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2) 19 GBM - Glioblastoma multiforme(68;0.000434)|OV - Ovarian serous cystadenocarcinoma(155;0.000548) GCCTTGGAGGGGGAGGTGGTG 0.453000 32 97 0 0 1 0 0 TMEFF2 23671 broad.mit.edu 37 2 193056676 193056676 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:193056676G>A ENST00000409056.3 - 2 211 c.212C>T c.(211-213)aCc>aTc p.T71I TMEFF2_ENST00000392314.1_Missense_Mutation_p.T71I|TMEFF2_ENST00000272771.5_Missense_Mutation_p.T71I Q9UIK5 TEFF2_HUMAN transmembrane protein with EGF-like and two follistatin-like domains 2 71 extracellular region|integral to membrane breast(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(12)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 27 OV - Ovarian serous cystadenocarcinoma(117;0.0835) ACAGGTGTTGGTGTCACAGAG 0.343000 17 45 0 0 1 0 0 ANKRD34A 284615 broad.mit.edu 37 1 145474466 145474466 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:145474466C>T ENST00000323397.4 + 4 2431 c.1138C>T c.(1138-1140)Ccg>Tcg p.P380S NM_001039888.2 NP_001034977.1 Q69YU3 AN34A_HUMAN ankyrin repeat domain 34A 380 Pro-rich. endometrium(2)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|upper_aerodigestive_tract(1) 20 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) GGCTCCCTCTCCGCGCCAGTC 0.706000 8 35 0 0 1 0 0 PIGU 128869 broad.mit.edu 37 20 33203920 33203920 + Missense_Mutation SNP A A G TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr20:33203920A>G ENST00000374820.2 - 6 513 c.493T>C c.(493-495)Ttt>Ctt p.F165L PIGU_ENST00000480175.1_Intron|PIGU_ENST00000452740.2_Missense_Mutation_p.F185L Q9H490 PIGU_HUMAN phosphatidylinositol glycan anchor biosynthesis, class U 185 attachment of GPI anchor to protein|C-terminal protein lipidation|regulation of JAK-STAT cascade GPI-anchor transamidase complex|plasma membrane NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(1)|skin(1) 9 AAGGCAAGAAAAATAGCACTG 0.458000 22 58 0 0 1 0 0 SIPA1L2 57568 broad.mit.edu 37 1 232650408 232650408 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:232650408G>A ENST00000366630.1 - 2 1036 c.678C>T c.(676-678)gtC>gtT p.V226V SIPA1L2_ENST00000262861.4_Silent_p.V226V Q9P2F8 SI1L2_HUMAN signal-induced proliferation-associated 1 like 2 226 regulation of small GTPase mediated signal transduction intracellular GTPase activator activity p.V226V(1) NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 103 all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186) ACCCAAAAGGGACCATTGCTT 0.468000 7 232 0 0 1 0 0 SLC6A11 6538 broad.mit.edu 37 3 10861459 10861459 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:10861459G>A ENST00000254488.2 + 3 520 c.454G>A c.(454-456)Gca>Aca p.A152T SLC6A11_ENST00000454147.1_Missense_Mutation_p.A152T NM_014229.1 NP_055044.1 P48066 S6A11_HUMAN solute carrier family 6 (neurotransmitter transporter), member 11 152 neurotransmitter secretion integral to plasma membrane gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(13)|ovary(1)|skin(4) 35 OV - Ovarian serous cystadenocarcinoma(96;0.229) CATCATCCTGGCATGGGCCAT 0.493000 62 144 0 0 1 0 0 VWF 7450 broad.mit.edu 37 12 6182788 6182788 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:6182788G>A ENST00000261405.5 - 8 1248 c.994C>T c.(994-996)Cct>Tct p.P332S NM_000552.3 NP_000543.2 P04275 VWF_HUMAN von Willebrand factor 332 TIL 1. blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5) 129 Antihemophilic Factor(DB00025) TCATTACCAGGGCAGCTGCAG 0.532000 8 107 0 0 1 0 0 CLSTN2 64084 broad.mit.edu 37 3 139894831 139894831 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:139894831G>A ENST00000458420.3 + 2 338 c.148G>A c.(148-150)Gga>Aga p.G50R NM_022131.2 NP_071414.2 Q9H4D0 CSTN2_HUMAN calsyntenin 2 50 Cadherin 1. homophilic cell adhesion endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 87 TTCATATCATGGAGTCATAAC 0.393000 HNSCC(16;0.037) 36 69 0 0 1 0 0 P2RY2 5029 broad.mit.edu 37 11 72945803 72945803 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:72945803C>T ENST00000311131.2 + 3 1066 c.599C>T c.(598-600)tCa>tTa p.S200L P2RY2_ENST00000393597.2_Missense_Mutation_p.S200L|P2RY2_ENST00000393596.2_Missense_Mutation_p.S200L NM_002564.2|NM_176072.1 NP_002555.2|NP_788086.1 P41231 P2RY2_HUMAN purinergic receptor P2Y, G-protein coupled, 2 200 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger integral to plasma membrane purinergic nucleotide receptor activity, G-protein coupled endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2) 25 Suramin(DB04786) GCCTACAGCTCAGTCATGCTG 0.647000 25 48 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179458093 179458093 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:179458093G>A ENST00000589042.1 - 299 59066 c.58842C>T c.(58840-58842)atC>atT p.I19614I TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000359218.5_Silent_p.I10674I|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Silent_p.I17973I|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Silent_p.I17046I|TTN_ENST00000460472.2_Silent_p.I10549I|TTN_ENST00000342175.6_Silent_p.I10741I|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000419746.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 17973 Ig-like 109. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TCTTTTCCAGGATGTAGTTTG 0.398000 62 120 0 0 1 0 0 AOC1 26 broad.mit.edu 37 7 150555962 150555962 + Nonsense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:150555962G>A ENST00000493429.1 + 5 2266 c.1682G>A c.(1681-1683)tGg>tAg p.W561* AOC1_ENST00000467291.1_Nonsense_Mutation_p.W561*|AOC1_ENST00000416793.2_Nonsense_Mutation_p.W561*|AOC1_ENST00000480582.1_3'UTR|AOC1_ENST00000360937.4_Nonsense_Mutation_p.W561* amine oxidase, copper containing 1 CAGTACTCCTGGGAGCGCCAG 0.602000 10 47 0 0 1 0 0 UCP1 7350 broad.mit.edu 37 4 141483372 141483372 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:141483372C>T ENST00000262999.3 - 5 859 c.784G>A c.(784-786)Gaa>Aaa p.E262K NM_021833.4 NP_068605.1 P25874 UCP1_HUMAN uncoupling protein 1 (mitochondrial, proton carrier) 262 brown fat cell differentiation|cellular lipid metabolic process|respiratory electron transport chain integral to membrane|mitochondrial inner membrane binding NS(1)|breast(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(1)|stomach(1) 16 all_hematologic(180;0.162) GTTGGTCCTTCGTTAGTGAAC 0.438000 15 134 0 0 1 0 0 DUOXA1 90527 broad.mit.edu 37 15 45415183 45415183 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr15:45415183G>A ENST00000558996.1 - 2 84 c.30C>T c.(28-30)ttC>ttT p.F10F DUOXA1_ENST00000560572.1_Silent_p.F10F|DUOXA1_ENST00000267803.4_Silent_p.F10F|DUOXA1_ENST00000559014.1_Silent_p.F10F|DUOXA1_ENST00000558422.1_Silent_p.F10F|DUOXA1_ENST00000430224.2_Silent_p.F10F NM_001276267.1|NM_001276268.1 NP_001263196.1|NP_001263197.1 Q1HG43 DOXA1_HUMAN dual oxidase maturation factor 1 10 protein transport endoplasmic reticulum membrane|integral to membrane endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1) 16 all_cancers(109;6.02e-08)|all_epithelial(112;1.83e-06)|Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417) all cancers(107;3.82e-18)|GBM - Glioblastoma multiforme(94;4.39e-07)|COAD - Colon adenocarcinoma(120;0.0676)|Colorectal(133;0.0686) GGCCAGCATAGAAGGGGAATG 0.517000 36 59 0 0 1 0 0 TMEM135 65084 broad.mit.edu 37 11 87029224 87029224 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:87029224C>T ENST00000340353.7 + 12 1259 c.1057C>T c.(1057-1059)Cct>Tct p.P353S TMEM135_ENST00000305494.5_Missense_Mutation_p.P375S|TMEM135_ENST00000532959.1_Missense_Mutation_p.P246S|TMEM135_ENST00000535167.1_Missense_Mutation_p.P236S NM_001168724.1 NP_001162195.1 Q86UB9 TM135_HUMAN transmembrane protein 135 375 integral to membrane NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 17 Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123) TCCCTATTTTCCTCATGCAGA 0.343000 7 121 0 0 1 0 0 C1orf200 644997 broad.mit.edu 37 1 9714036 9714036 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:9714036G>A ENST00000377320.3 - 2 454 c.305C>T c.(304-306)cCc>cTc p.P102L PIK3CD_ENST00000536656.1_Intron|PIK3CD_ENST00000377346.4_Intron chromosome 1 open reading frame 200 endometrium(1)|large_intestine(2)|lung(5)|pancreas(1) 9 all_lung(157;0.222) Renal(390;0.000469)|all_lung(118;0.000521)|Lung NSC(185;0.000744)|Colorectal(325;0.0062)|Breast(348;0.0157)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.86e-08)|COAD - Colon adenocarcinoma(227;1.31e-05)|Kidney(185;0.000231)|KIRC - Kidney renal clear cell carcinoma(229;0.000879)|BRCA - Breast invasive adenocarcinoma(304;0.00178)|STAD - Stomach adenocarcinoma(132;0.00331)|READ - Rectum adenocarcinoma(331;0.0419) ggcccagacgggaggatcact 0.552000 7 17 0 0 1 0 0 RAB3D 9545 broad.mit.edu 37 19 11447966 11447966 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:11447966G>A ENST00000222120.3 - 2 370 c.110C>T c.(109-111)tCc>tTc p.S37F RAB3D_ENST00000589655.1_Missense_Mutation_p.S37F NM_004283.3 NP_004274.1 O95716 RAB3D_HUMAN RAB3D, member RAS oncogene family 37 exocytosis|protein transport|small GTPase mediated signal transduction plasma membrane GTP binding|GTPase activity cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(3)|ovary(2) 14 GAACAGGAAGGAAGTCTTGCC 0.547000 11 471 0 0 1 0 0 RTL1 388015 broad.mit.edu 37 14 101350708 101350708 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr14:101350708C>T ENST00000534062.1 - 1 476 c.418G>A c.(418-420)Gac>Aac p.D140N NM_001134888.2 NP_001128360.1 E9PKS8 E9PKS8_HUMAN retrotransposon-like 1 140 breast(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(5)|pancreas(1)|prostate(2)|skin(2) 21 TCCTTCAGGTCAGTGTGAGCC 0.542000 5 10 0 0 1 0 0 COL5A3 50509 broad.mit.edu 37 19 10079376 10079376 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:10079376C>T ENST00000264828.3 - 58 4266 c.4181G>A c.(4180-4182)gGa>gAa p.G1394E NM_015719.3 NP_056534.2 P25940 CO5A3_HUMAN collagen, type V, alpha 3 1394 Triple-helical region. collagen fibril organization|skin development collagen type V collagen binding|extracellular matrix structural constituent NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 116 Epithelial(33;7.11e-05) GCCAGTGTCTCCCTTCAGCCC 0.582000 8 11 0 0 1 0 0 TRPC1 7220 broad.mit.edu 37 3 142523366 142523366 + Missense_Mutation SNP A A G TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:142523366A>G ENST00000273482.6 + 11 2337 c.1946A>G c.(1945-1947)aAc>aGc p.N649S TRPC1_ENST00000476941.1_Missense_Mutation_p.N683S NM_003304.4 NP_003295.1 P48995 TRPC1_HUMAN transient receptor potential cation channel, subfamily C, member 1 683 axon guidance|cytosolic calcium ion homeostasis|positive regulation of release of sequestered calcium ion into cytosol|response to calcium ion cytosol|integral to plasma membrane protein binding|store-operated calcium channel activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(2)|stomach(3)|urinary_tract(1) 37 CCACCTTTCAACATCATTCCC 0.383000 38 60 0 0 1 0 0 TNS1 7145 broad.mit.edu 37 2 218682829 218682829 + Missense_Mutation SNP C C T rs141992593 by1000genomes TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:218682829C>T ENST00000171887.4 - 24 4366 c.3914G>A c.(3913-3915)gGa>gAa p.G1305E TNS1_ENST00000419504.1_Missense_Mutation_p.G1292E|TNS1_ENST00000430930.1_Missense_Mutation_p.G1284E NM_022648.4 NP_072174.3 Q9HBL0 TENS1_HUMAN tensin 1 1305 cytoplasm|cytoskeleton|focal adhesion actin binding breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 79 Renal(207;0.0483)|Lung NSC(271;0.213) Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013) TCCAGACCCTCCGAGGTGACG 0.657000 10 28 0 0 1 0 0 NEBL 10529 broad.mit.edu 37 10 21462843 21462843 + Translation_Start_Site SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:21462843C>T ENST00000417816.2 - 0 273 NM_001173484.1|NM_213569.2 NP_001166955.1|NP_998734.1 O76041 NEBL_HUMAN nebulette regulation of actin filament length actin binding|structural constituent of muscle NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 70 GAGCCCCGCACCGCCTCCTGG 0.806000 8 12 0 0 1 0 0 FABP6 2172 broad.mit.edu 37 5 159640821 159640821 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:159640821G>A ENST00000393980.4 + 3 276 c.130G>A c.(130-132)Gga>Aga p.G44R FABP6_ENST00000393982.1_Missense_Mutation_p.G44R NM_001130958.1 NP_001124430.1 P51161 FABP6_HUMAN fatty acid binding protein 6, ileal 0 bile acid and bile salt transport|bile acid metabolic process|negative regulation of cell proliferation cytosol transporter activity p.G44R(1) breast(1)|kidney(1)|large_intestine(1)|lung(2) 5 Renal(175;0.00196) Medulloblastoma(196;0.0354)|all_neural(177;0.116) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) GACACATAAAGGAAAGGTATG 0.478000 24 51 0 0 1 0 0 BAI3 577 broad.mit.edu 37 6 70034864 70034864 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:70034864G>A ENST00000370598.1 + 21 3736 c.2915G>A c.(2914-2916)gGa>gAa p.G972E BAI3_ENST00000238918.8_Missense_Mutation_p.G178E NM_001704.2 NP_001695.1 O60242 BAI3_HUMAN brain-specific angiogenesis inhibitor 3 972 negative regulation of angiogenesis|neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 210 all_lung(197;0.212) GCTGTAACTGGAAAAATTAGG 0.413000 11 127 0 0 1 0 0 ADCY8 114 broad.mit.edu 37 8 131826374 131826374 + Missense_Mutation SNP G G A rs150152490 TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:131826374G>A ENST00000286355.5 - 14 4946 c.2854C>T c.(2854-2856)Cgg>Tgg p.R952W ADCY8_ENST00000377928.3_Missense_Mutation_p.R821W NM_001115.2 NP_001106.1 P40145 ADCY8_HUMAN adenylate cyclase 8 (brain) 952 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|membrane fraction|plasma membrane ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2) 134 Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000538) AAGATATTCCGGAGCATGTTC 0.552000 HNSCC(32;0.087) 68 95 0 0 1 0 0 SORL1 6653 broad.mit.edu 37 11 121391475 121391475 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:121391475G>A ENST00000260197.7 + 9 1450 c.1321G>A c.(1321-1323)Gtc>Atc p.V441I SORL1_ENST00000532451.1_3'UTR NM_003105.5 NP_003096.1 Q92673 SORL_HUMAN sortilin-related receptor, L(DLR class) A repeats containing 441 cholesterol metabolic process|lipid transport|receptor-mediated endocytosis integral to plasma membrane|low-density lipoprotein particle low-density lipoprotein particle binding|transmembrane receptor activity NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2) 91 Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113) BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108) CATGAGATCGGTCATCACCTT 0.438000 26 25 0 0 1 0 0 MAP1A 4130 broad.mit.edu 37 15 43819091 43819091 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr15:43819091G>A ENST00000382031.1 + 5 6165 c.6134G>A c.(6133-6135)gGa>gAa p.G2045E MAP1A_ENST00000399453.1_Missense_Mutation_p.G1807E|MAP1A_ENST00000300231.5_Missense_Mutation_p.G1807E P78559 MAP1A_HUMAN microtubule-associated protein 1A 1807 cytoplasm|microtubule|microtubule associated complex protein binding|structural molecule activity breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 66 all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;3.05e-06) Estramustine(DB01196) GAGATGGTTGGACAAAGGGTT 0.547000 73 154 0 0 1 0 0 IGHV3-16 28447 broad.mit.edu 37 14 106622318 106622318 + RNA SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr14:106622318G>A ENST00000390604.2 - 0 101 ATACCAGCAAGAAAAACCCAG 0.453000 37 101 0 0 1 0 0 LCE2B 26239 broad.mit.edu 37 1 152659444 152659444 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:152659444C>T ENST00000368780.3 + 2 179 c.125C>T c.(124-126)cCt>cTt p.P42L LCE2B_ENST00000417924.2_Missense_Mutation_p.P42L NM_014357.4 NP_055172.1 O14633 LCE2B_HUMAN late cornified envelope 2B 42 Cys-rich.|Pro-rich. keratinization p.P42L(1) endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 11 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) CCATGTTCCCCTGCAGTCTCT 0.627000 12 504 0 0 1 0 0 ATP12A 479 broad.mit.edu 37 13 25262561 25262561 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr13:25262561G>A ENST00000218548.6 + 4 666 c.333G>A c.(331-333)atG>atA p.M111I ATP12A_ENST00000381946.3_Missense_Mutation_p.M111I NM_001185085.1|NM_001676.5 NP_001172014.1|NP_001667.4 P54707 AT12A_HUMAN ATPase, H+/K+ transporting, nongastric, alpha polypeptide 111 ATP biosynthetic process hydrogen:potassium-exchanging ATPase complex ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5) 74 Lung SC(185;0.0225)|Breast(139;0.077) all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228) Esomeprazole(DB00736)|Pantoprazole(DB00213) TCAAGCAGATGGTGGGGGGGT 0.592000 228 385 0 0 1 0 0 MXRA5 25878 broad.mit.edu 37 X 3238423 3238423 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chrX:3238423G>A ENST00000217939.6 - 5 5457 c.5303C>T c.(5302-5304)tCc>tTc p.S1768F NM_015419.3 NP_056234.2 Q9NR99 MXRA5_HUMAN matrix-remodelling associated 5 1768 extracellular region NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2) 157 all_lung(23;0.00031)|Lung NSC(23;0.000946) CCTGTTGTAGGAACCTGGAAT 0.522000 33 7 0 0 1 0 0 OR13H1 347468 broad.mit.edu 37 X 130678906 130678906 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chrX:130678906C>T ENST00000338616.3 + 1 957 c.859C>T c.(859-861)Ctg>Ttg p.L287L NM_001004486.1 NP_001004486.1 Q8NG92 O13H1_HUMAN olfactory receptor, family 13, subfamily H, member 1 287 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|large_intestine(3)|lung(7)|prostate(1)|skin(1) 15 Acute lymphoblastic leukemia(192;0.000636) GTTGAACCCCCTGATATATAG 0.393000 49 29 0 0 1 0 0 TRPC1 7220 broad.mit.edu 37 3 142455355 142455355 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:142455355C>T ENST00000273482.6 + 2 698 c.307C>T c.(307-309)Ctt>Ttt p.L103F TRPC1_ENST00000476941.1_Missense_Mutation_p.L103F NM_003304.4 NP_003295.1 P48995 TRPC1_HUMAN transient receptor potential cation channel, subfamily C, member 1 103 axon guidance|cytosolic calcium ion homeostasis|positive regulation of release of sequestered calcium ion into cytosol|response to calcium ion cytosol|integral to plasma membrane protein binding|store-operated calcium channel activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(2)|stomach(3)|urinary_tract(1) 37 ACTGCAGCTTCTTTTGGACTA 0.373000 54 136 0 0 1 0 0 ZDBF2 57683 broad.mit.edu 37 2 207146584 207146584 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:207146584G>A ENST00000374423.3 + 3 397 c.11G>A c.(10-12)aGa>aAa p.R4K NM_020923.1 NP_065974.1 Q9HCK1 ZDBF2_HUMAN zinc finger, DBF-type containing 2 4 nucleic acid binding|zinc ion binding endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 95 ATGCAGAAAAGACAAGGATAT 0.338000 12 35 0 0 1 0 0 KRT36 8689 broad.mit.edu 37 17 39644927 39644927 + Missense_Mutation SNP T T A rs147215531 TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:39644927T>A ENST00000393986.2 - 3 571 c.359A>T c.(358-360)aAt>aTt p.N120I KRT36_ENST00000328119.6_Missense_Mutation_p.N170I O76013 KRT36_HUMAN keratin 36 170 Coil 1A.|Rod. intermediate filament protein binding|structural constituent of epidermis breast(2)|cervix(1)|kidney(2)|large_intestine(3)|lung(8)|skin(1) 17 Breast(137;0.000286) CAGCTTGGCATTATCAATCTG 0.577000 41 111 0 0 1 0 0 RNF133 168433 broad.mit.edu 37 7 122338606 122338606 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:122338606C>T ENST00000340112.2 - 1 604 c.367G>A c.(367-369)Gga>Aga p.G123R CADPS2_ENST00000449022.2_Intron|CADPS2_ENST00000412584.2_Intron|CADPS2_ENST00000313070.7_Intron|CADPS2_ENST00000334010.7_Intron NM_139175.1 NP_631914.1 Q8WVZ7 RN133_HUMAN ring finger protein 133 123 PA. endoplasmic reticulum membrane|integral to membrane ligase activity|zinc ion binding NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|urinary_tract(1) 21 CCACTGGCTCCCTTCTCAGTT 0.458000 69 229 0 0 1 0 0 YES1 7525 broad.mit.edu 37 18 739795 739795 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr18:739795G>A ENST00000584307.1 - 9 1247 c.1077C>T c.(1075-1077)ttC>ttT p.F359F YES1_ENST00000577961.1_Silent_p.F364F|YES1_ENST00000314574.4_Silent_p.F359F P07947 YES_HUMAN v-yes-1 Yamaguchi sarcoma viral oncogene homolog 1 359 Protein kinase. blood coagulation|leukocyte migration|regulation of vascular permeability|T cell costimulation cytosol|plasma membrane ATP binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(1) 17 Dasatinib(DB01254) CTTCCTTAAGGAAATCTAATA 0.343000 37 39 0 0 1 0 0 PEAR1 375033 broad.mit.edu 37 1 156882048 156882048 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:156882048C>T ENST00000338302.3 + 17 2186 c.1961C>T c.(1960-1962)cCa>cTa p.P654L PEAR1_ENST00000292357.7_Missense_Mutation_p.P654L Q5VY43 PEAR1_HUMAN platelet endothelial aggregation receptor 1 654 integral to membrane breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(6)|lung(22)|ovary(4)|skin(3)|upper_aerodigestive_tract(1) 43 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) GCATGCCCTCCAGGACACTGG 0.592000 37 44 0 0 1 0 0 RUNX1T1 862 broad.mit.edu 37 8 92998464 92998464 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:92998464C>T ENST00000523629.1 - 9 1621 c.1167G>A c.(1165-1167)ttG>ttA p.L389L RUNX1T1_ENST00000520724.1_Silent_p.L352L|RUNX1T1_ENST00000360348.2_Silent_p.L352L|RUNX1T1_ENST00000396218.1_Silent_p.L362L|RUNX1T1_ENST00000265814.3_Silent_p.L389L|RUNX1T1_ENST00000518844.1_Silent_p.L362L|RUNX1T1_ENST00000422361.2_Silent_p.L352L|RUNX1T1_ENST00000436581.2_Silent_p.L400L NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2 NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1 Q06455 MTG8_HUMAN runt-related transcription factor 1; translocated to, 1 (cyclin D-related) 389 generation of precursor metabolites and energy nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2) 86 BRCA - Breast invasive adenocarcinoma(11;0.0141) TCCAGTAATTCAATTCTTCCC 0.507000 5 184 0 0 1 0 0 IGHV3OR15-7 28318 broad.mit.edu 37 15 20193356 20193356 + RNA SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr15:20193356C>T ENST00000558565.2 - 0 14 AAACCCAGCTCAGCCCAAACT 0.493000 108 188 0 0 1 0 0 ST8SIA3 51046 broad.mit.edu 37 18 55024414 55024414 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr18:55024414C>T ENST00000324000.3 + 3 2607 c.573C>T c.(571-573)ttC>ttT p.F191F NM_015879.2 NP_056963.2 O43173 SIA8C_HUMAN ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 3 191 glycosphingolipid biosynthetic process|N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine integral to Golgi membrane alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity p.F191F(1) breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(16)|prostate(1)|skin(3) 36 READ - Rectum adenocarcinoma(59;0.19)|Colorectal(16;0.205) GTTGCAATTTCGCCCCTACGG 0.403000 38 91 0 0 1 0 0 COL14A1 7373 broad.mit.edu 37 8 121381683 121381683 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:121381683G>A ENST00000297848.3 + 47 5540 c.5270G>A c.(5269-5271)gGa>gAa p.G1757E COL14A1_ENST00000309791.4_Missense_Mutation_p.G1757E|COL14A1_ENST00000247781.3_Missense_Mutation_p.G1662E NM_021110.1 NP_066933.1 Q05707 COEA1_HUMAN collagen, type XIV, alpha 1 1757 Triple-helical region 2 (COL1). cell-cell adhesion|collagen fibril organization collagen type XIV|extracellular space collagen binding|extracellular matrix structural constituent|protein binding, bridging NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2) 119 Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161) OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503) GGCCAGCCTGGATATTGTGAC 0.562000 50 91 0 0 1 0 0 TRIM5 85363 broad.mit.edu 37 11 5701378 5701378 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:5701378C>T ENST00000305836.5 - 2 332 c.30G>A c.(28-30)aaG>aaA p.K10K TRIM5_ENST00000396847.3_Silent_p.K10K|TRIM5_ENST00000396855.3_Silent_p.K10K|TRIM5_ENST00000380034.3_Silent_p.K10K|TRIM5_ENST00000380027.1_Silent_p.K10K|TRIM5_ENST00000396853.4_Silent_p.K10K Q9C035 TRIM5_HUMAN tripartite motif containing 5 10 interspecies interaction between organisms|protein trimerization|response to virus cytoplasm|cytoplasmic mRNA processing body ligase activity|protein binding|protein homodimerization activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 21 Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)|Lung NSC(207;0.138)|all_lung(207;0.221) Epithelial(150;7.21e-09)|BRCA - Breast invasive adenocarcinoma(625;0.139) TCACCTCCTCCTTTACATTAA 0.547000 33 38 0 0 1 0 0 FOXN4 121643 broad.mit.edu 37 12 109717558 109717558 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:109717558G>A ENST00000299162.5 - 10 1576 c.1472C>T c.(1471-1473)cCg>cTg p.P491L FOXN4_ENST00000355216.1_Missense_Mutation_p.P311L NM_213596.2 NP_998761.2 Q96NZ1 FOXN4_HUMAN forkhead box N4 491 axon extension|embryo development|organ development|pattern specification process|regulation of heart contraction|regulation of sequence-specific DNA binding transcription factor activity|tissue development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding large_intestine(5)|lung(9)|ovary(2) 16 CACACTGTCCGGAGTGGAGTA 0.632000 9 8 0 0 1 0 0 OR6C6 283365 broad.mit.edu 37 12 55688977 55688977 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:55688977C>T ENST00000358433.2 - 1 39 c.40G>A c.(40-42)Gga>Aga p.G14R NM_001005493.1 NP_001005493.1 A6NF89 OR6C6_HUMAN olfactory receptor, family 6, subfamily C, member 6 14 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 TCTGTCAATCCTAGGAGAATG 0.343000 9 86 0 0 1 0 0 CNTN6 27255 broad.mit.edu 37 3 1424998 1424998 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:1424998G>A ENST00000446702.2 + 19 3050 c.2423G>A c.(2422-2424)gGa>gAa p.G808E CNTN6_ENST00000350110.2_Missense_Mutation_p.G808E|CNTN6_ENST00000539053.1_Missense_Mutation_p.G736E Q9UQ52 CNTN6_HUMAN contactin 6 808 Fibronectin type-III 3. axon guidance|cell adhesion|central nervous system development|Notch signaling pathway anchored to membrane|plasma membrane breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 90 all_cancers(2;0.000164)|all_epithelial(2;0.107) Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139) GCCCCAAGGGGAACTTCTCTC 0.438000 119 232 0 0 1 0 0 MYO18B 84700 broad.mit.edu 37 22 26423240 26423240 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr22:26423240G>A ENST00000335473.7 + 43 7550 c.7300G>A c.(7300-7302)Gaa>Aaa p.E2434K MYO18B_ENST00000536101.1_Missense_Mutation_p.E2434K|MYO18B_ENST00000407587.2_Missense_Mutation_p.E2435K NM_032608.5 NP_115997.5 Q8IUG5 MY18B_HUMAN myosin XVIIIB 2434 nucleus|sarcomere|unconventional myosin complex actin binding|ATP binding|motor activity NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 146 CCTCGACTACGAACGCAAGAC 0.562000 7 172 0 0 1 0 0 TRIM71 131405 broad.mit.edu 37 3 32932117 32932117 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:32932117C>T ENST00000383763.4 + 4 1484 c.1421C>T c.(1420-1422)tCt>tTt p.S474F NM_001039111.1 NP_001034200.1 Q2Q1W2 LIN41_HUMAN tripartite motif containing 71, E3 ubiquitin protein ligase 474 multicellular organismal development cytoplasm zinc ion binding breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 GCCATCAAGTCTTTTGGCTTT 0.612000 48 117 0 0 1 0 0 UPB1 51733 broad.mit.edu 37 22 24909320 24909320 + Missense_Mutation SNP T T G TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr22:24909320T>G ENST00000413389.2 + 5 1877 c.284T>G c.(283-285)gTg>gGg p.V95G UPB1_ENST00000326010.5_Missense_Mutation_p.V163G Q9UBR1 BUP1_HUMAN ureidopropionase, beta 163 CN hydrolase. pyrimidine base metabolic process|pyrimidine nucleoside catabolic process cytosol beta-ureidopropionase activity|metal ion binding endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 22 Colorectal(2;0.0339) ATGGTGGTGGTGTCTCCCATC 0.458000 8 98 0 0 1 0 0 MYO1C 4641 broad.mit.edu 37 17 1387520 1387520 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:1387520G>A ENST00000359786.5 - 2 477 c.153C>T c.(151-153)ttC>ttT p.F51F MYO1C_ENST00000438665.2_Silent_p.F32F|MYO1C_ENST00000545534.2_Silent_p.F27F|MYO1C_ENST00000575158.1_Silent_p.F16F|MYO1C_ENST00000361007.2_Silent_p.F16F NM_001080779.1 NP_001074248.1 O00159 MYO1C_HUMAN myosin IC 51 Myosin head-like. mRNA transport|protein transport|transmembrane transport basal plasma membrane|cytoplasm|filamentous actin|lateral plasma membrane|nuclear pore|nucleolus|nucleoplasm|stereocilium membrane actin binding|ATP binding|calmodulin binding|motor activity breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(2) 17 UCEC - Uterine corpus endometrioid carcinoma (25;0.0822) CCAGCAGCACGAAATCCTGCA 0.632000 17 46 0 0 1 0 0 TPST1 8460 broad.mit.edu 37 7 65705962 65705962 + Nonsense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:65705962C>T ENST00000304842.5 + 2 975 c.550C>T c.(550-552)Cga>Tga p.R184* TPST1_ENST00000480281.1_Intron NM_003596.3 NP_003587.1 O60507 TPST1_HUMAN tyrosylprotein sulfotransferase 1 184 inflammatory response|peptidyl-tyrosine sulfation Golgi membrane|integral to membrane|membrane fraction protein-tyrosine sulfotransferase activity NS(1)|biliary_tract(1)|breast(1)|kidney(3)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 11 CCTGATGGTCCGAGATGGCCG 0.413000 29 126 0 0 1 0 0 PCDH11X 27328 broad.mit.edu 37 X 91132670 91132670 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chrX:91132670G>A ENST00000373094.1 + 2 2276 c.1431G>A c.(1429-1431)gaG>gaA p.E477E PCDH11X_ENST00000361724.1_Silent_p.E477E|PCDH11X_ENST00000373088.1_Silent_p.E477E|PCDH11X_ENST00000373097.1_Silent_p.E477E|PCDH11X_ENST00000395337.2_Silent_p.E477E|PCDH11X_ENST00000361655.2_Silent_p.E477E|PCDH11X_ENST00000298274.8_Silent_p.E477E|PCDH11X_ENST00000406881.1_Silent_p.E477E|PCDH11X_ENST00000504220.1_Silent_p.E477E NM_032968.3 NP_116750.1 Q9BZA7 PC11X_HUMAN protocadherin 11 X-linked 477 Cadherin 5. homophilic cell adhesion integral to plasma membrane calcium ion binding NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 159 CTATTCCTGAGAATAACTCTC 0.438000 45 34 0 0 1 0 0 PTH2R 5746 broad.mit.edu 37 2 209307097 209307097 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:209307097C>T ENST00000272847.2 + 5 633 c.420C>T c.(418-420)ttC>ttT p.F140F PTH2R_ENST00000413482.1_3'UTR NM_005048.2 NP_005039.1 P49190 PTH2R_HUMAN parathyroid hormone 2 receptor 140 integral to plasma membrane parathyroid hormone receptor activity breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(21)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 43 Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836) AGCAAGAATTCTTTGAACGCC 0.388000 60 127 0 0 1 0 0 BCAP29 55973 broad.mit.edu 37 7 107236423 107236423 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:107236423G>A ENST00000379119.2 + 4 470 c.456G>A c.(454-456)atG>atA p.M152I BCAP29_ENST00000005259.4_Missense_Mutation_p.M152I|BCAP29_ENST00000494086.1_3'UTR|BCAP29_ENST00000465919.1_Missense_Mutation_p.M58I|BCAP29_ENST00000379121.2_Missense_Mutation_p.M58I|BCAP29_ENST00000379117.2_Missense_Mutation_p.M152I|BCAP29_ENST00000445771.2_Missense_Mutation_p.M152I NM_001008405.2 NP_001008405.1 Q9UHQ4 BAP29_HUMAN B-cell receptor-associated protein 29 152 apoptosis|intracellular protein transport|vesicle-mediated transport endoplasmic reticulum membrane|integral to membrane cervix(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|skin(1)|urinary_tract(1) 14 AAAAATTTATGGAAGAAAACG 0.318000 25 139 0 0 1 0 0 PTPRN2 5799 broad.mit.edu 37 7 157369323 157369323 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:157369323G>A ENST00000389413.3 - 18 2781 c.2678C>T c.(2677-2679)tCc>tTc p.S893F PTPRN2_ENST00000404321.2_Missense_Mutation_p.S945F|PTPRN2_ENST00000389416.4_Missense_Mutation_p.S905F|PTPRN2_ENST00000409483.1_Missense_Mutation_p.S884F|PTPRN2_ENST00000389418.4_Missense_Mutation_p.S922F NM_130843.2 NP_570858.2 Q92932 PTPR2_HUMAN protein tyrosine phosphatase, receptor type, N polypeptide 2 922 Tyrosine-protein phosphatase. integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1) 86 all_neural(206;0.181) all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132) OV - Ovarian serous cystadenocarcinoma(82;0.00463) STAD - Stomach adenocarcinoma(7;0.0875) GTCCAGGAGGGACCTTGAGGA 0.647000 4 28 0 0 1 0 0 ZNF626 199777 broad.mit.edu 37 19 20808289 20808289 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:20808289C>T ENST00000601440.1 - 4 540 c.394G>A c.(394-396)Gaa>Aaa p.E132K CTC-513N18.7_ENST00000595094.1_lincRNA NM_001076675.2 NP_001070143.1 Q68DY1 ZN626_HUMAN zinc finger protein 626 132 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(1)|lung(3)|skin(1) 6 TGGTTAAGTTCATTATAACCT 0.323000 45 113 0 0 1 0 0 ABCA2 20 broad.mit.edu 37 9 139916431 139916431 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:139916431G>A ENST00000265662.5 - 7 737 c.590C>T c.(589-591)cCc>cTc p.P197L ABCA2_ENST00000341511.6_Missense_Mutation_p.P197L|ABCA2_ENST00000371605.3_Missense_Mutation_p.P196L|ABCA2_ENST00000492260.1_5'UTR Q9BZC7 ABCA2_HUMAN ATP-binding cassette, sub-family A (ABC1), member 2 196 cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center ATP binding|ATPase activity, coupled to transmembrane movement of substances central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1) 41 all_cancers(76;0.16) Myeloproliferative disorder(178;0.0511) STAD - Stomach adenocarcinoma(284;0.123) OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048) GGCAGATGAGGGACCAAAGAG 0.647000 6 11 0 0 1 0 0 DIS3L2 129563 broad.mit.edu 37 2 233198649 233198649 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:233198649C>T ENST00000325385.7 + 17 2386 c.2110C>T c.(2110-2112)Cgc>Tgc p.R704C DIS3L2_ENST00000273009.6_Intron|DIS3L2_ENST00000409307.1_Missense_Mutation_p.R704C NM_152383.4 NP_689596.4 Q8IYB7 DI3L2_HUMAN DIS3 mitotic control homolog (S. cerevisiae)-like 2 704 exonuclease activity|ribonuclease activity|RNA binding breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(18)|ovary(1)|prostate(2)|urinary_tract(1) 40 all_hematologic(139;0.00809)|Renal(207;0.0113)|Acute lymphoblastic leukemia(138;0.0195)|all_lung(227;0.0465)|Lung NSC(271;0.136) Epithelial(121;1.6e-13)|BRCA - Breast invasive adenocarcinoma(100;0.00104)|LUSC - Lung squamous cell carcinoma(224;0.0109)|Lung(119;0.0149) CTCGCCCATCCGCCGCTTTGC 0.672000 54 127 0 0 1 0 0 MGAM 8972 broad.mit.edu 37 7 141756716 141756716 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:141756716G>A ENST00000475668.2 + 30 3721 c.3667G>A c.(3667-3669)Gag>Aag p.E1223K MGAM_ENST00000549489.2_Missense_Mutation_p.E1223K O43451 MGA_HUMAN maltase-glucoamylase (alpha-glucosidase) 1223 Glucoamylase. polysaccharide digestion|starch catabolic process apical plasma membrane|integral to membrane carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2) 13 Melanoma(164;0.0272) Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878) GCCGACTCCAGAGCTTGTCAC 0.488000 4 85 0 0 1 0 0 HECW2 57520 broad.mit.edu 37 2 197183963 197183963 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:197183963C>T ENST00000260983.2 - 9 1833 c.1651G>A c.(1651-1653)Gaa>Aaa p.E551K HECW2_ENST00000409111.1_Missense_Mutation_p.E195K NM_020760.1 NP_065811.1 Q9P2P5 HECW2_HUMAN HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 551 protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm ubiquitin-protein ligase activity biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2) 113 GGGCCGCCTTCACCTTCCTCT 0.582000 35 59 0 0 1 0 0 PLCXD2 257068 broad.mit.edu 37 3 111426882 111426882 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:111426882G>A ENST00000393934.3 + 2 843 c.273G>A c.(271-273)atG>atA p.M91I PLCXD2_ENST00000477665.1_Missense_Mutation_p.M91I NM_153268.3 NP_695000.1 Q0VAA5 PLCX2_HUMAN phosphatidylinositol-specific phospholipase C, X domain containing 2 91 PI-PLC X-box. intracellular signal transduction|lipid catabolic process phospholipase C activity|signal transducer activity endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1) 17 AGAAGCTAATGAAGAAGTGGT 0.522000 34 65 0 0 1 0 0 DNMT1 1786 broad.mit.edu 37 19 10291085 10291085 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:10291085G>A ENST00000340748.4 - 4 621 c.386C>T c.(385-387)cCc>cTc p.P129L DNMT1_ENST00000359526.4_Missense_Mutation_p.P129L|DNMT1_ENST00000540357.1_Missense_Mutation_p.P129L P26358 DNMT1_HUMAN DNA (cytosine-5-)-methyltransferase 1 129 Interaction with DNMT3A.|Interaction with the PRC2/EED-EZH2 complex (By similarity). chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent nucleus DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1) 70 OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06) Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035) AAGGGGTTTGGGGGGGCTGTT 0.502000 8 155 0 0 1 0 0 DSP 1832 broad.mit.edu 37 6 7581061 7581061 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:7581061C>T ENST00000379802.3 + 23 4979 c.4638C>T c.(4636-4638)tcC>tcT p.S1546S DSP_ENST00000418664.2_Intron NM_004415.2 NP_004406.2 P15924 DESP_HUMAN desmoplakin 1546 Central fibrous rod domain. cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural constituent of cytoskeleton biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5) 101 Ovarian(93;0.0584) all_hematologic(90;0.236) OV - Ovarian serous cystadenocarcinoma(45;0.000508) AAAGGGTTTCCCAGGAGAGGA 0.512000 117 152 0 0 1 0 0 ZBTB18 10472 broad.mit.edu 37 1 244218172 244218172 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:244218172C>T ENST00000358704.4 + 2 1245 c.1096C>T c.(1096-1098)Ccc>Tcc p.P366S NM_001278196.1|NM_006352.4|NM_205768.2 NP_001265125.1|NP_006343.2|NP_991331.1 zinc finger and BTB domain containing 18 CAGTCTGCTCCCCTACGTCTC 0.617000 37 55 0 0 1 0 0 PAPOLG 64895 broad.mit.edu 37 2 61019382 61019382 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:61019382C>T ENST00000238714.3 + 17 1886 c.1637C>T c.(1636-1638)cCa>cTa p.P546L NM_022894.3 NP_075045.2 Q9BWT3 PAPOG_HUMAN poly(A) polymerase gamma 546 mRNA processing|RNA polyadenylation|transcription, DNA-dependent nucleus ATP binding|metal ion binding|polynucleotide adenylyltransferase activity|RNA binding breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 35 all_hematologic(2;0.0797) LUSC - Lung squamous cell carcinoma(5;1.19e-07)|Lung(5;2.86e-06)|Epithelial(17;0.0768) TTTAATTCTCCAGCGTCCAAG 0.413000 30 73 0 0 1 0 0 RYR3 6263 broad.mit.edu 37 15 33842379 33842379 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr15:33842379C>T ENST00000389232.4 + 10 904 c.834C>T c.(832-834)atC>atT p.I278I RYR3_ENST00000415757.3_Silent_p.I278I NM_001036.3 NP_001027.3 Q15413 RYR3_HUMAN ryanodine receptor 3 278 MIR 4. cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3) 311 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) GCAGTAACATCAGATGGGGCC 0.468000 17 27 0 0 1 0 0 HDC 3067 broad.mit.edu 37 15 50555601 50555601 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr15:50555601C>T ENST00000267845.3 - 2 437 c.35G>A c.(34-36)aGa>aAa p.R12K HDC_ENST00000543581.1_Missense_Mutation_p.R12K NM_002112.3 NP_002103.2 P19113 DCHS_HUMAN histidine decarboxylase 12 catecholamine biosynthetic process|histidine metabolic process histidine decarboxylase activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 50 all_lung(180;0.0138) all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05) L-Histidine(DB00117)|Pyridoxal Phosphate(DB00114) CACCATCTCTCTCCCTAGAAG 0.572000 12 34 0 0 1 0 0 TLR5 7100 broad.mit.edu 37 1 223285291 223285291 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:223285291C>T ENST00000540964.1 - 4 1544 c.1083G>A c.(1081-1083)aaG>aaA p.K361K TLR5_ENST00000342210.6_Silent_p.K361K O60602 TLR5_HUMAN toll-like receptor 5 361 cellular response to mechanical stimulus|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of toll-like receptor signaling pathway integral to membrane|plasma membrane interleukin-1 receptor binding|transmembrane receptor activity breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 32 GBM - Glioblastoma multiforme(131;0.0851) TGTAGGCTACCTTAGGTAGTC 0.378000 76 90 0 0 1 0 0 SH3BP2 6452 broad.mit.edu 37 4 2824746 2824746 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:2824746C>T ENST00000442312.2 + 3 484 c.305C>T c.(304-306)tCc>tTc p.S102F SH3BP2_ENST00000435136.2_Missense_Mutation_p.S74F|SH3BP2_ENST00000503393.2_Missense_Mutation_p.S131F|SH3BP2_ENST00000389838.2_Missense_Mutation_p.S74F|SH3BP2_ENST00000452765.2_Missense_Mutation_p.S74F|SH3BP2_ENST00000511747.1_Missense_Mutation_p.S74F|SH3BP2_ENST00000356331.5_Missense_Mutation_p.S74F NM_001145855.1 NP_001139327.1 P78314 3BP2_HUMAN SH3-domain binding protein 2 74 PH. signal transduction SH3 domain binding|SH3/SH2 adaptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2) 20 UCEC - Uterine corpus endometrioid carcinoma (64;0.164) GGCGCCTTCTCCCTGAGTGGC 0.657000 Cherubism 14 33 0 0 1 0 0 NID2 22795 broad.mit.edu 37 14 52485914 52485914 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr14:52485914C>T ENST00000216286.5 - 14 2892 c.2893G>A c.(2893-2895)Gag>Aag p.E965K NID2_ENST00000541773.1_Missense_Mutation_p.E864K NM_007361.3 NP_031387.3 Q14112 NID2_HUMAN nidogen 2 (osteonidogen) 965 Thyroglobulin type-1 1. basement membrane calcium ion binding|collagen binding NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 87 Breast(41;0.0639)|all_epithelial(31;0.123) TTGCCCTGCTCGTCGCATTGG 0.607000 23 44 0 0 1 0 0 FRMPD1 22844 broad.mit.edu 37 9 37740493 37740493 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:37740493C>T ENST00000539465.1 + 15 2561 c.1968C>T c.(1966-1968)ctC>ctT p.L656L RP11-613M10.9_ENST00000540557.1_Intron|FRMPD1_ENST00000536622.1_Silent_p.L478L|FRMPD1_ENST00000377765.3_Silent_p.L656L|FRMPD1_ENST00000541302.1_Silent_p.L525L Q5SYB0 FRPD1_HUMAN FERM and PDZ domain containing 1 656 cytoskeleton|cytosol|plasma membrane NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 93 GBM - Glioblastoma multiforme(29;0.00655) GTGGCTTCCTCTGTCTCCTGG 0.577000 21 39 0 0 1 0 0 ABCA9 10350 broad.mit.edu 37 17 66972097 66972097 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:66972097G>A ENST00000340001.4 - 39 5045 c.4834C>T c.(4834-4836)Ccc>Tcc p.P1612S ABCA9_ENST00000453985.2_Missense_Mutation_p.P1574S|ABCA9_ENST00000370732.2_3'UTR NM_080283.3 NP_525022.2 Q8IUA7 ABCA9_HUMAN ATP-binding cassette, sub-family A (ABC1), member 9 1612 transport integral to membrane ATP binding|ATPase activity NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 91 Breast(10;1.47e-12) TTCACCGAGGGATCAAAGTCC 0.413000 4 53 0 0 1 0 0 GRIN2A 2903 broad.mit.edu 37 16 10273855 10273855 + Splice_Site SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr16:10273855C>T ENST00000396573.2 - 3 723 c.414_splice c.e3+1 p.K138_splice GRIN2A_ENST00000330684.3_Splice_Site_p.K138_splice|GRIN2A_ENST00000562109.1_Splice_Site_p.K138_splice|GRIN2A_ENST00000404927.2_Splice_Site_p.K138_splice|GRIN2A_ENST00000396575.2_Splice_Site_p.K138_splice NM_000833.3 NP_000824.1 Q12879 NMDE1_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2A 138 response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1) 198 Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) CCGGCCTTACCTTGTCAGCCA 0.577000 20 41 0 0 1 0 0 PAX8 7849 broad.mit.edu 37 2 113994189 113994189 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:113994189G>A ENST00000429538.3 - 8 1081 c.887C>T c.(886-888)cCc>cTc p.P296L AC016683.6_ENST00000553869.2_RNA|AC016683.6_ENST00000456685.1_RNA|AC016683.6_ENST00000445745.1_RNA|AC016683.6_ENST00000333145.5_RNA|PAX8_ENST00000397647.3_Intron|PAX8_ENST00000348715.5_Missense_Mutation_p.P296L|PAX8_ENST00000263334.5_Missense_Mutation_p.P296L|PAX8_ENST00000263335.7_Intron|AC016683.6_ENST00000556070.1_RNA|AC016683.6_ENST00000422956.1_RNA|AC016683.6_ENST00000436293.2_RNA|AC016683.6_ENST00000437551.1_RNA|AC016683.6_ENST00000451179.1_RNA NM_003466.3 NP_003457.1 Q06710 PAX8_HUMAN paired box 8 296 branching involved in ureteric bud morphogenesis|cellular response to gonadotropin stimulus|central nervous system development|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesonephros development|metanephric collecting duct development|metanephric comma-shaped body morphogenesis|metanephric distal convoluted tubule development|metanephric nephron tubule formation|metanephric S-shaped body morphogenesis|negative regulation of mesenchymal stem cell apoptosis involved in metanephric nephron morphogenesis|otic vesicle development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of metanephric DCT cell differentiation|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|pronephric field specification|regulation of metanephric nephron tubule epithelial cell differentiation|regulation of thyroid-stimulating hormone secretion|thyroid gland development|transcription, DNA-dependent nucleoplasm protein binding|RNA polymerase II core promoter sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|thyroid-stimulating hormone receptor activity PAX8/PPARG(117) breast(1)|endometrium(4)|kidney(2)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|skin(1) 20 TGCCACCACGGGGTAGGTCTG 0.687000 T PPARG follicular thyroid Thyroid dysgenesis 8 6 0 0 1 0 0 CERK 64781 broad.mit.edu 37 22 47116008 47116008 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr22:47116008G>A ENST00000216264.8 - 3 466 c.354C>T c.(352-354)acC>acT p.T118T CERK_ENST00000541677.1_5'UTR NM_022766.5 NP_073603.2 Q8TCT0 CERK1_HUMAN ceramide kinase 118 Required for binding to sulfatide and phosphoinositides. activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|ceramide metabolic process integral to membrane of membrane fraction|membrane|nucleus ATP binding|ceramide kinase activity|diacylglycerol kinase activity|magnesium ion binding cervix(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2) 20 Breast(42;0.00571)|Ovarian(80;0.00965)|all_neural(38;0.0416)|Lung SC(80;0.164) UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)|BRCA - Breast invasive adenocarcinoma(115;0.171) TCTCCCGCAGGGTCTGCAGCC 0.572000 46 92 0 0 1 0 0 ABCB11 8647 broad.mit.edu 37 2 169787308 169787308 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:169787308G>A ENST00000263817.6 - 25 3402 c.3278C>T c.(3277-3279)tCg>tTg p.S1093L NM_003742.2 NP_003733.2 O95342 ABCBB_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 11 1093 ABC transporter 2. bile acid biosynthetic process apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1) 57 Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016) CAGAACTTGCGAGTCAGGTCG 0.453000 14 24 0 0 1 0 0 TRPC6 7225 broad.mit.edu 37 11 101342097 101342097 + Nonsense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:101342097C>T ENST00000344327.3 - 9 2650 c.2226G>A c.(2224-2226)tgG>tgA p.W742* TRPC6_ENST00000532133.1_Nonsense_Mutation_p.W664*|TRPC6_ENST00000348423.4_Nonsense_Mutation_p.W626*|TRPC6_ENST00000360497.4_Nonsense_Mutation_p.W687* NM_004621.5 NP_004612.2 Q9Y210 TRPC6_HUMAN transient receptor potential cation channel, subfamily C, member 6 742 axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity integral to membrane|plasma membrane protein binding autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 55 Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162) BRCA - Breast invasive adenocarcinoma(274;0.0442) TTGCAAATTTCCACTCCACAT 0.433000 26 38 0 0 1 0 0 KCNS3 3790 broad.mit.edu 37 2 18112945 18112945 + Nonsense_Mutation SNP G G T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:18112945G>T ENST00000403915.1 + 3 1121 c.670G>T c.(670-672)Gga>Tga p.G224* KCNS3_ENST00000304101.4_Nonsense_Mutation_p.G224*|KCNS3_ENST00000465292.1_Intron Q9BQ31 KCNS3_HUMAN potassium voltage-gated channel, delayed-rectifier, subfamily S, member 3 224 energy reserve metabolic process|regulation of insulin secretion Golgi apparatus|voltage-gated potassium channel complex delayed rectifier potassium channel activity|potassium channel regulator activity endometrium(5)|kidney(1)|large_intestine(7)|lung(11)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158) GGTGCTGGAAGGAGTGGAGAT 0.567000 44 79 2.35958e-20 2.38408e-20 1 1 0 MTUS2 23281 broad.mit.edu 37 13 29600554 29600554 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr13:29600554C>T ENST00000431530.3 + 1 1807 c.1749C>T c.(1747-1749)ccC>ccT p.P583P NM_001033602.2 NP_001028774.2 Q5JR59 MTUS2_HUMAN microtubule associated tumor suppressor candidate 2 573 cytoplasm|microtubule microtubule binding|protein homodimerization activity NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1) 20 TAGTTCCACCCCCTACTGATA 0.537000 43 99 0 0 1 0 0 NIPBL 25836 broad.mit.edu 37 5 36985422 36985422 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:36985422C>T ENST00000282516.8 + 10 2639 c.2140C>T c.(2140-2142)Cca>Tca p.P714S NIPBL_ENST00000504430.1_3'UTR|NIPBL_ENST00000448238.2_Missense_Mutation_p.P714S NM_015384.4|NM_133433.3 NP_056199.2|NP_597677.2 Q6KC79 NIPBL_HUMAN Nipped-B homolog (Drosophila) 714 brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis SMC loading complex chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4) 128 all_lung(31;0.000447)|Hepatocellular(1;0.108) Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202) GCCTGAGACTCCAAAACAAAA 0.458000 30 144 0 0 1 0 0 AEN 64782 broad.mit.edu 37 15 89169489 89169489 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr15:89169489C>T ENST00000332810.3 + 2 200 c.49C>T c.(49-51)Ctc>Ttc p.L17F AEN_ENST00000379231.3_Missense_Mutation_p.L17F NM_022767.3 NP_073604.3 Q8WTP8 AEN_HUMAN apoptosis enhancing nuclease 17 apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|response to ionizing radiation nucleolus|nucleoplasm exonuclease activity|nucleic acid binding NS(1)|kidney(1)|large_intestine(1)|lung(4) 7 GTGCCCTTCCCTCACCATCCC 0.602000 22 30 0 0 1 0 0 FAM110C 642273 broad.mit.edu 37 2 45578 45578 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:45578C>T ENST00000327669.4 - 1 807 c.808G>A c.(808-810)Ggg>Agg p.G270R NM_001077710.2 NP_001071178.2 Q1W6H9 F110C_HUMAN family with sequence similarity 110, member C 270 microtubule|microtubule organizing center|spindle pole central_nervous_system(1)|kidney(1)|lung(2) 4 all_hematologic(175;0.0429)|Acute lymphoblastic leukemia(172;0.0627) all_cancers(51;0.00221) all cancers(51;0.000815)|Epithelial(75;0.00379)|OV - Ovarian serous cystadenocarcinoma(76;0.0127)|GBM - Glioblastoma multiforme(21;0.232) TCCTGCAGCCCCTCGTCGTCG 0.657000 22 54 0 0 1 0 0 SNTN 132203 broad.mit.edu 37 3 63645538 63645538 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:63645538G>A ENST00000496807.1 + 3 273 c.271G>A c.(271-273)Gag>Aag p.E91K SNTN_ENST00000343837.3_Missense_Mutation_p.E95K A6NMZ2 SNTAN_HUMAN sentan, cilia apical structure protein 95 cilium calcium ion binding endometrium(2)|ovary(1) 3 GAATTTCGCAGAGGTGAGAGA 0.423000 7 133 0 0 1 0 0 KRT23 25984 broad.mit.edu 37 17 39081786 39081786 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:39081786C>T ENST00000209718.3 - 7 1386 c.962G>A c.(961-963)cGg>cAg p.R321Q KRT23_ENST00000436344.3_Missense_Mutation_p.R184Q|AC004231.2_ENST00000418393.1_RNA NM_015515.3 NP_056330.3 Q9C075 K1C23_HUMAN keratin 23 (histone deacetylase inducible) 321 Coil 2.|Rod. intermediate filament structural molecule activity central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 21 Breast(137;0.000301)|Ovarian(249;0.15) GCAGGAGTACCGAGACTGGGT 0.453000 17 41 0 0 1 0 0 ALPI 248 broad.mit.edu 37 2 233323090 233323090 + Silent SNP C C G TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:233323090C>G ENST00000295463.3 + 9 1232 c.1155C>G c.(1153-1155)ggC>ggG p.G385G NM_001631.3 NP_001622.2 P09923 PPBI_HUMAN alkaline phosphatase, intestinal 385 phosphorylation anchored to membrane|integral to membrane|plasma membrane alkaline phosphatase activity|metal ion binding|protein binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(2)|upper_aerodigestive_tract(1) 24 all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132) Epithelial(121;1.64e-16)|Kidney(3;9.71e-08)|KIRC - Kidney renal clear cell carcinoma(3;2.74e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000763)|Lung(119;0.00564)|LUSC - Lung squamous cell carcinoma(224;0.00746) CCTTTGGTGGCTACACCTTGC 0.587000 16 39 0 0 1 0 0 OR14J1 442191 broad.mit.edu 37 6 29274811 29274811 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:29274811G>A ENST00000377160.2 + 1 409 c.345G>A c.(343-345)gtG>gtA p.V115V NM_030946.1 NP_112208.1 Q9UGF5 O14J1_HUMAN olfactory receptor, family 14, subfamily J, member 1 115 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(2) 17 TTCTCACAGTGATGTCTTATG 0.448000 37 182 0 0 1 0 0 GATA2 2624 broad.mit.edu 37 3 128205000 128205000 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:128205000C>T ENST00000341105.2 - 3 772 c.441G>A c.(439-441)ggG>ggA p.G147G GATA2_ENST00000487848.1_Silent_p.G147G|GATA2_ENST00000430265.2_Silent_p.G147G NM_032638.4 NP_116027.2 P23769 GATA2_HUMAN GATA binding protein 2 147 blood coagulation|negative regulation of fat cell differentiation|negative regulation of fat cell proliferation|negative regulation of neural precursor cell proliferation|negative regulation of Notch signaling pathway|phagocytosis|positive regulation of angiogenesis|positive regulation of phagocytosis|positive regulation of transcription from RNA polymerase II promoter nucleoplasm C2H2 zinc finger domain binding|chromatin binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(58)|kidney(2)|large_intestine(3)|lung(9)|prostate(3)|skin(1)|urinary_tract(1) 79 GBM - Glioblastoma multiforme(114;0.173) CTCCCCCGCTCCCACCCCCAG 0.682000 Mis AML(CML blast transformation) 4 11 0 0 1 0 0 TDRD6 221400 broad.mit.edu 37 6 46661383 46661383 + Missense_Mutation SNP T T G TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:46661383T>G ENST00000544460.1 + 1 5772 c.5518T>G c.(5518-5520)Tct>Gct p.S1840A TDRD6_ENST00000316081.6_Missense_Mutation_p.S1840A NM_001168359.1 NP_001161831.1 O60522 TDRD6_HUMAN tudor domain containing 6 1840 cell differentiation|multicellular organismal development|spermatogenesis chromatoid body nucleic acid binding NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 80 Lung(136;0.192) GGTGCCGCTTTCTCCTGATGA 0.393000 63 161 0 0 1 0 0 ALX4 60529 broad.mit.edu 37 11 44286633 44286633 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:44286633G>A ENST00000329255.3 - 4 1110 c.1007C>T c.(1006-1008)gCc>gTc p.A336V NM_021926.3 NP_068745.2 Q9H161 ALX4_HUMAN ALX homeobox 4 336 hair follicle development central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1) 16 AGGGGGGTGGGCATGAGGGGA 0.672000 32 50 0 0 1 0 0 PTPRN2 5799 broad.mit.edu 37 7 157931072 157931072 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:157931072C>T ENST00000389413.3 - 7 1149 c.1046G>A c.(1045-1047)cGa>cAa p.R349Q PTPRN2_ENST00000404321.2_Missense_Mutation_p.R372Q|PTPRN2_ENST00000389416.4_Missense_Mutation_p.R332Q|PTPRN2_ENST00000409483.1_Missense_Mutation_p.R311Q|PTPRN2_ENST00000389418.4_Missense_Mutation_p.R349Q NM_130843.2 NP_570858.2 Q92932 PTPR2_HUMAN protein tyrosine phosphatase, receptor type, N polypeptide 2 349 integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1) 86 all_neural(206;0.181) all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132) OV - Ovarian serous cystadenocarcinoma(82;0.00463) STAD - Stomach adenocarcinoma(7;0.0875) AGGGCTGCCTCGAGCTACTCC 0.672000 38 152 0 0 1 0 0 MAGEA10 4109 broad.mit.edu 37 X 151303974 151303974 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chrX:151303974G>A ENST00000370323.4 - 4 435 c.119C>T c.(118-120)tCa>tTa p.S40L RP11-1007I13.4_ENST00000509345.2_RNA|MAGEA10_ENST00000244096.3_Missense_Mutation_p.S40L NM_001251828.1|NM_021048.4 NP_001238757.1|NP_066386.2 P43363 MAGAA_HUMAN melanoma antigen family A, 10 40 endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 Acute lymphoblastic leukemia(192;6.56e-05) GGAAGTGGATGATGAAGCATC 0.562000 42 18 0 0 1 0 0 PIP 5304 broad.mit.edu 37 7 142836720 142836720 + Silent SNP C C T rs147384445 byFrequency TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:142836720C>T ENST00000291009.3 + 4 466 c.426C>T c.(424-426)atC>atT p.I142I NM_002652.2 NP_002643.1 P12273 PIP_HUMAN prolactin-induced protein 142 extracellular region actin binding NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|skin(1) 18 Melanoma(164;0.059) Ovarian(593;2.82e-05)|Breast(660;0.012) BRCA - Breast invasive adenocarcinoma(188;0.0026)|LUSC - Lung squamous cell carcinoma(290;0.0733)|Lung(243;0.08) CTATTGAAATCCTAAAGGTAG 0.413000 78 304 0 0 1 0 0 ERC2 26059 broad.mit.edu 37 3 56207515 56207515 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:56207515G>A ENST00000288221.6 - 4 1363 c.1108C>T c.(1108-1110)Cca>Tca p.P370S NM_015576.1 NP_056391.1 O15083 ERC2_HUMAN ELKS/RAB6-interacting/CAST family member 2 370 cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome protein binding breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1) 31 KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219) GTCTTGGCTGGCTCCGGCTGA 0.483000 25 55 0 0 1 0 0 COL1A2 1278 broad.mit.edu 37 7 94043015 94043015 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:94043015C>T ENST00000297268.6 + 27 2042 c.1571C>T c.(1570-1572)cCt>cTt p.P524L NM_000089.3 NP_000080.2 P08123 CO1A2_HUMAN collagen, type I, alpha 2 524 axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway collagen type I|extracellular space|plasma membrane extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging COL1A2/PLAG1(3) NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 115 all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08) STAD - Stomach adenocarcinoma(171;0.0031) Collagenase(DB00048) GCTCCAGGTCCTGATGGAAAC 0.443000 HNSCC(75;0.22) 8 182 0 0 1 0 0 ARHGAP5 394 broad.mit.edu 37 14 32561778 32561778 + Missense_Mutation SNP C C T rs115598823 byFrequency TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr14:32561778C>T ENST00000345122.3 + 2 2218 c.1903C>T c.(1903-1905)Cgg>Tgg p.R635W ARHGAP5_ENST00000396582.2_Intron|ARHGAP5_ENST00000433497.1_Intron|ARHGAP5_ENST00000556611.1_Missense_Mutation_p.R635W|ARHGAP5_ENST00000539826.2_Missense_Mutation_p.R635W|ARHGAP5_ENST00000432921.1_Missense_Mutation_p.R635W NM_001030055.1 NP_001025226.1 Q13017 RHG05_HUMAN Rho GTPase activating protein 5 635 cell adhesion|Rho protein signal transduction cytosol|membrane GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4) 55 Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186) LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173) GBM - Glioblastoma multiforme(265;0.00566) ACTTGATCTTCGGCCGGTTGA 0.423000 64 116 0 0 1 0 0 RAD51AP2 729475 broad.mit.edu 37 2 17699120 17699120 + Missense_Mutation SNP T T A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:17699120T>A ENST00000399080.2 - 1 586 c.563A>T c.(562-564)aAa>aTa p.K188I NM_001099218.2 NP_001092688.1 Q09MP3 R51A2_HUMAN RAD51 associated protein 2 188 endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(10)|liver(1)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 49 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158) TGGATTTTCTTTGTGAACATT 0.343000 6 81 0 0 1 0 0 DEFB1 1672 broad.mit.edu 37 8 6728261 6728261 + Missense_Mutation SNP G G A rs146603349 TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:6728261G>A ENST00000297439.3 - 2 313 c.149C>T c.(148-150)cCg>cTg p.P50L NM_005218.3 NP_005209.1 P60022 DEFB1_HUMAN defensin, beta 1 50 chemotaxis|defense response to bacterium|G-protein coupled receptor protein signaling pathway|innate immune response extracellular region lung(1) 1 STAD - Stomach adenocarcinoma(24;0.0984) COAD - Colon adenocarcinoma(149;0.0162)|READ - Rectum adenocarcinoma(644;0.128) GGTAAAGATCGGGCAGGCAGA 0.493000 54 84 0 0 1 0 0 TSPAN5 10098 broad.mit.edu 37 4 99408012 99408012 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:99408012G>A ENST00000305798.3 - 3 558 c.156C>T c.(154-156)tcC>tcT p.S52S TSPAN5_ENST00000505184.1_5'UTR|TSPAN5_ENST00000509168.1_5'UTR NM_005723.3 NP_005714.2 P62079 TSN5_HUMAN tetraspanin 5 52 integral to membrane kidney(2)|large_intestine(6)|lung(5)|upper_aerodigestive_tract(1) 14 OV - Ovarian serous cystadenocarcinoma(123;1.89e-07) GATCGGTGATGGAAGAGATGT 0.502000 65 110 0 0 1 0 0 CD200R1 131450 broad.mit.edu 37 3 112648265 112648265 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:112648265C>T ENST00000471858.1 - 3 455 c.223G>A c.(223-225)Gaa>Aaa p.E75K CD200R1_ENST00000440122.2_Missense_Mutation_p.E98K|CD200R1_ENST00000295863.4_Missense_Mutation_p.E53K|CD200R1_ENST00000308611.3_Missense_Mutation_p.E98K|CD200R1_ENST00000490004.1_Missense_Mutation_p.E75K NM_170780.2 NP_740750.1 Q8TD46 MO2R1_HUMAN CD200 receptor 1 75 Ig-like V-type. interspecies interaction between organisms|regulation of immune response extracellular region|integral to membrane|plasma membrane receptor activity cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1) 26 AGGATTATTTCCCATGTTATT 0.413000 32 75 0 0 1 0 0 SLC9C2 284525 broad.mit.edu 37 1 173472451 173472451 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:173472451C>T ENST00000367714.3 - 27 3747 c.3325G>A c.(3325-3327)Gtc>Atc p.V1109I SLC9C2_ENST00000466087.1_5'UTR NM_178527.3 NP_848622.2 Q5TAH2 S9A11_HUMAN solute carrier family 9, member C2 (putative) 1109 sodium ion transport integral to membrane ion channel activity|solute:hydrogen antiporter activity TGTTCAAAGACCGTGTTGACT 0.294000 30 47 0 0 1 0 0 VWA3B 200403 broad.mit.edu 37 2 98735991 98735991 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:98735991G>A ENST00000477737.1 + 4 511 c.307G>A c.(307-309)Gaa>Aaa p.E103K VWA3B_ENST00000435344.1_Missense_Mutation_p.E103K|VWA3B_ENST00000451075.2_Intron NM_144992.4 NP_659429.4 Q502W6 VWA3B_HUMAN von Willebrand factor A domain containing 3B 103 NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 70 AGCTAAATCAGAACTGATTTA 0.413000 13 110 0 0 1 0 0 PCDHGA1 56114 broad.mit.edu 37 5 140710288 140710288 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:140710288C>T ENST00000517417.1 + 1 37 c.37C>T c.(37-39)Ctg>Ttg p.L13L PCDHGA1_ENST00000378105.3_Silent_p.L13L NM_018912.2 NP_061735.1 breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 78 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTGCAGCAGGCTGATGCTTCT 0.493000 74 118 0 0 1 0 0 FBXO39 162517 broad.mit.edu 37 17 6684106 6684106 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:6684106C>T ENST00000321535.4 + 2 1049 c.919C>T c.(919-921)Ccg>Tcg p.P307S NM_153230.2 NP_694962.1 Q8N4B4 FBX39_HUMAN F-box protein 39 307 NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 26 GCAGGAGATCCCGATCAGGAG 0.532000 27 46 0 0 1 0 0 KIAA1804 84451 broad.mit.edu 37 1 233514925 233514925 + Missense_Mutation SNP G G A rs76363344 by1000genomes TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:233514925G>A ENST00000366624.3 + 9 2434 c.2173G>A c.(2173-2175)Ggg>Agg p.G725R MLK4_ENST00000366622.1_Missense_Mutation_p.G171R NM_032435.2 NP_115811.2 AGCTCTGTATGGGTGCACCGT 0.537000 39 112 0 0 1 0 0 MET 4233 broad.mit.edu 37 7 116395411 116395411 + Silent SNP T T C TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:116395411T>C ENST00000397752.3 + 6 1904 c.1704T>C c.(1702-1704)gtT>gtC p.V568V MET_ENST00000318493.6_Silent_p.V568V|MET_ENST00000495962.1_3'UTR|MET_ENST00000436117.2_Silent_p.V568V NM_000245.2|NM_001127500.1 NP_000236.2|NP_001120972.1 P08581 MET_HUMAN met proto-oncogene 568 IPT/TIG 1. axon guidance|cell proliferation basal plasma membrane|integral to plasma membrane ATP binding|hepatocyte growth factor receptor activity|protein binding NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3) 233 all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125) Ovarian(593;0.133) GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512) CCTTGTAGGTTTTCCCAAATA 0.328000 Mis """papillary renal, head-neck squamous cell """ papillary renal Hereditary Papillary Renal Carcinoma (type 1) 4 131 0 0 1 0 0 RNF17 56163 broad.mit.edu 37 13 25373700 25373700 + Missense_Mutation SNP T T A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr13:25373700T>A ENST00000255324.5 + 12 1619 c.1567T>A c.(1567-1569)Tct>Act p.S523T RNF17_ENST00000255325.5_Missense_Mutation_p.S524T|RNF17_ENST00000381921.1_Missense_Mutation_p.S523T NM_001184993.1|NM_031277.2 NP_001171922.1|NP_112567.2 Q9BXT8 RNF17_HUMAN ring finger protein 17 523 multicellular organismal development cytoplasm|nucleus hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6) 36 Lung SC(185;0.0225)|Breast(139;0.077) all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524) TTTTGGAAATTCTGAAGTCCT 0.353000 42 62 0 0 1 0 0 CCR5 1234 broad.mit.edu 37 3 46414396 46414396 + Translation_Start_Site SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:46414396G>A ENST00000343801.4 + 3 360 c.3G>A c.(1-3)atG>atA p.M1I CCR5_ENST00000445772.1_Start_Codon_SNP_p.M1I|CCR5_ENST00000292303.4_Start_Codon_SNP_p.M1I|RP11-24F11.2_ENST00000451485.1_RNA NM_000579.3 NP_000570.1 P51681 CCR5_HUMAN chemokine (C-C motif) receptor 5 (gene/pseudogene) 1 cell-cell signaling|cellular defense response|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|entry into host cell|immune response|inflammatory response|initiation of viral infection endosome|external side of plasma membrane|integral to plasma membrane actin binding|C-C chemokine receptor activity|coreceptor activity|phosphatidylinositol phospholipase C activity central_nervous_system(1)|large_intestine(2)|lung(13)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 20 BRCA - Breast invasive adenocarcinoma(193;0.00112)|KIRC - Kidney renal clear cell carcinoma(197;0.017)|Kidney(197;0.02) Maraviroc(DB04835) GGAACAAGATGGATTATCAAG 0.383000 65 121 0 0 1 0 0 BCL11A 53335 broad.mit.edu 37 2 60688010 60688010 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:60688010G>A ENST00000335712.6 - 4 2264 c.2037C>T c.(2035-2037)tcC>tcT p.S679S BCL11A_ENST00000358510.4_Silent_p.S645S|BCL11A_ENST00000538214.1_Silent_p.S645S|BCL11A_ENST00000356842.4_Silent_p.S679S|BCL11A_ENST00000537768.1_Silent_p.S348S|BCL11A_ENST00000359629.5_Intron|BCL11A_ENST00000477659.1_5'UTR NM_022893.3 NP_075044.2 Q9H165 BC11A_HUMAN B-cell CLL/lymphoma 11A (zinc finger protein) 679 negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 59 LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199) GCGATTGTCTGGAGTCTCCGA 0.647000 T IGH@ B-CLL 42 95 0 0 1 0 0 ANKRD19P 138649 broad.mit.edu 37 9 95646241 95646241 + RNA SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:95646241G>A ENST00000473204.1 + 0 2157 TAGGGCAGAGGGGGATGCCCA 0.552000 33 91 0 0 1 0 0 COL11A1 1301 broad.mit.edu 37 1 103352442 103352442 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:103352442C>T ENST00000358392.2 - 63 5132 c.4815G>A c.(4813-4815)atG>atA p.M1605I COL11A1_ENST00000353414.4_Missense_Mutation_p.M1554I|COL11A1_ENST00000512756.1_Missense_Mutation_p.M1477I|COL11A1_ENST00000370096.3_Missense_Mutation_p.M1593I NM_080629.2 NP_542196.2 P12107 COBA1_HUMAN collagen, type XI, alpha 1 1593 Fibrillar collagen NC1. collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception collagen type XI extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1) 258 all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181) Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248) TTGGAAATTTCATATGCTCAA 0.408000 56 116 0 0 1 0 0 ZNF521 25925 broad.mit.edu 37 18 22807178 22807178 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr18:22807178G>A ENST00000361524.3 - 4 852 c.704C>T c.(703-705)tCc>tTc p.S235F ZNF521_ENST00000584787.1_Missense_Mutation_p.S15F|ZNF521_ENST00000538137.2_Missense_Mutation_p.S235F NM_015461.2 NP_056276.1 Q96K83 ZN521_HUMAN zinc finger protein 521 235 cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein domain specific binding|zinc ion binding NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 149 all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991) CTCCATCCTGGAACCGGACTG 0.507000 T PAX5 ALL 28 67 0 0 1 0 0 DCAF12L1 139170 broad.mit.edu 37 X 125686001 125686001 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chrX:125686001G>A ENST00000371126.1 - 1 833 c.591C>T c.(589-591)atC>atT p.I197I NM_178470.4 NP_848565.2 Q5VU92 DC121_HUMAN DDB1 and CUL4 associated factor 12-like 1 197 breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 68 CGACGGCGAAGATCCAGTCCT 0.672000 4 45 0 0 1 0 0 KIAA0586 9786 broad.mit.edu 37 14 58949253 58949253 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr14:58949253C>T ENST00000423743.3 + 22 3093 c.2835C>T c.(2833-2835)gcC>gcT p.A945A KIAA0586_ENST00000556134.1_Silent_p.A974A|KIAA0586_ENST00000538571.2_3'UTR|KIAA0586_ENST00000354386.6_Silent_p.A1042A|KIAA0586_ENST00000261244.5_Silent_p.A913A NM_001244191.1|NM_001244192.1 NP_001231120.1|NP_001231121.1 E9PGW8 E9PGW8_HUMAN KIAA0586 913 endometrium(4)|kidney(6)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 GCAGTGGCGCCCTCCAGCTTT 0.373000 12 35 0 0 1 0 0 MIR143 406935 broad.mit.edu 37 5 148808497 148808497 + RNA SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:148808497C>T ENST00000385300.1 + 0 17 NR_029684.1 CGCCCTGTCTCCCAGCCTGAG 0.617000 15 31 0 0 1 0 0 AFM 173 broad.mit.edu 37 4 74351746 74351746 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:74351746G>A ENST00000226355.3 + 4 531 c.438G>A c.(436-438)gaG>gaA p.E146E NM_001133.2 NP_001124.1 P43652 AFAM_HUMAN afamin 146 Albumin 1. vitamin transport vitamin E binding breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 32 Breast(15;0.00102) Epithelial(6;5.69e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|all cancers(17;0.000555)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) ATCCCGAAGAGAAATGCCAGG 0.383000 39 79 0 0 1 0 0 PIKFYVE 200576 broad.mit.edu 37 2 209190269 209190269 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:209190269C>T ENST00000264380.4 + 20 2892 c.2734C>T c.(2734-2736)Ccc>Tcc p.P912S NM_015040.3 NP_055855.2 Q9Y2I7 FYV1_HUMAN phosphoinositide kinase, FYVE finger containing 912 cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi early endosome membrane|membrane raft 1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 107 AGGTTCCATCCCCTGGGATCC 0.502000 39 84 0 0 1 0 0 PRDM5 11107 broad.mit.edu 37 4 121739553 121739553 + Missense_Mutation SNP T T C TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:121739553T>C ENST00000264808.3 - 5 845 c.605A>G c.(604-606)aAg>aGg p.K202R PRDM5_ENST00000515109.1_Missense_Mutation_p.K202R|PRDM5_ENST00000428209.2_Missense_Mutation_p.K202R NM_018699.2 NP_061169.2 Q9NQX1 PRDM5_HUMAN PR domain containing 5 202 histone deacetylation|histone H3-K9 methylation|mitotic cell cycle|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus repressing transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(17)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 CCCACAGTTCTTGCACTTAAA 0.378000 5 73 0 0 1 0 0 TRIOBP 11078 broad.mit.edu 37 22 38122049 38122049 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr22:38122049C>T ENST00000406386.3 + 7 3741 c.3486C>T c.(3484-3486)acC>acT p.T1162T RP1-37E16.12_ENST00000455236.1_RNA NM_001039141.2 NP_001034230.1 Q9H2D6 TARA_HUMAN TRIO and F-actin binding protein 1162 actin modification|barbed-end actin filament capping actin cytoskeleton|cytoplasm|nucleus actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 12 Melanoma(58;0.0574) ACATCCCCACCCCTGTGTGCA 0.622000 42 123 0 0 1 0 0 RNF17 56163 broad.mit.edu 37 13 25356041 25356041 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr13:25356041G>A ENST00000255324.5 + 6 622 c.570G>A c.(568-570)gtG>gtA p.V190V RNF17_ENST00000255325.5_Silent_p.V190V|RNF17_ENST00000255326.4_3'UTR|RNF17_ENST00000381921.1_Silent_p.V190V NM_001184993.1|NM_031277.2 NP_001171922.1|NP_112567.2 Q9BXT8 RNF17_HUMAN ring finger protein 17 190 multicellular organismal development cytoplasm|nucleus hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6) 36 Lung SC(185;0.0225)|Breast(139;0.077) all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524) TAGAAGTTGTGGAGAAACAGT 0.328000 31 49 0 0 1 0 0 DLG2 1740 broad.mit.edu 37 11 83243757 83243757 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:83243757C>T ENST00000398309.2 - 16 2342 c.1872G>A c.(1870-1872)tcG>tcA p.S624S DLG2_ENST00000280241.8_Silent_p.S663S|DLG2_ENST00000418306.2_Silent_p.S521S|DLG2_ENST00000543673.1_Silent_p.S729S|DLG2_ENST00000531015.1_Silent_p.S591S|DLG2_ENST00000426717.2_Silent_p.S106S|DLG2_ENST00000537455.1_Silent_p.S378S|DLG2_ENST00000404783.3_Silent_p.S106S|DLG2_ENST00000524982.1_Silent_p.S624S|DLG2_ENST00000330014.6_Silent_p.S563S|DLG2_ENST00000376104.2_Silent_p.S729S|DLG2_ENST00000376106.3_Silent_p.S106S|DLG2_ENST00000530800.1_Silent_p.S133S|DLG2_ENST00000398304.1_Silent_p.S106S|DLG2_ENST00000532653.1_Silent_p.S624S NM_001364.3 NP_001355.2 Q15700 DLG2_HUMAN discs, large homolog 2 (Drosophila) 624 cell junction|postsynaptic density|postsynaptic membrane guanylate kinase activity|protein binding breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 71 all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036) CTACCCCTTTCGAATCAATCA 0.373000 33 62 0 0 1 0 0 OR6W1P 89883 broad.mit.edu 37 7 142759842 142759842 + RNA SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:142759842G>A ENST00000496192.1 - 0 684 NR_002140.1 central_nervous_system(1)|endometrium(2)|lung(1)|skin(1) 5 GGCATCCAGAGGAGGAAGGGA 0.562000 4 25 0 0 1 0 0 SLC44A4 80736 broad.mit.edu 37 6 31839317 31839317 + Nonsense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:31839317C>T ENST00000544672.1 - 8 619 c.323G>A c.(322-324)tGg>tAg p.W108* SLC44A4_ENST00000229729.6_Nonsense_Mutation_p.W184*|SLC44A4_ENST00000375562.4_Nonsense_Mutation_p.W142* NM_001178045.1 NP_001171516.1 Q53GD3 CTL4_HUMAN solute carrier family 44, member 4 184 integral to membrane|plasma membrane choline transmembrane transporter activity NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(1)|urinary_tract(2) 35 Choline(DB00122) AACGTTGGTCCATGGAAAGCA 0.657000 46 47 0 0 1 0 0 C7 730 broad.mit.edu 37 5 40936581 40936581 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:40936581G>A ENST00000313164.9 + 5 781 c.422G>A c.(421-423)gGa>gAa p.G141E NM_000587.2 NP_000578.2 P10643 CO7_HUMAN complement component 7 141 MACPF. complement activation, alternative pathway|complement activation, classical pathway|cytolysis extracellular region|membrane attack complex Ovarian(839;0.0112) GAACTTACTGGAAATGGGTAA 0.403000 9 38 0 0 1 0 0 GLRB 2743 broad.mit.edu 37 4 158059978 158059978 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:158059978G>A ENST00000264428.4 + 7 898 c.628G>A c.(628-630)Gat>Aat p.D210N GLRB_ENST00000512619.1_Intron|GLRB_ENST00000541722.1_Missense_Mutation_p.D210N|GLRB_ENST00000509282.1_Missense_Mutation_p.D210N NM_000824.4 NP_000815.1 P48167 GLRB_HUMAN glycine receptor, beta 210 nervous system development|neuropeptide signaling pathway|startle response cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane extracellular-glycine-gated chloride channel activity|protein binding|receptor activity p.D210N(1) central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(6)|skin(5)|upper_aerodigestive_tract(1) 27 all_hematologic(180;0.24) Renal(120;0.0458) KIRC - Kidney renal clear cell carcinoma(143;0.0564)|COAD - Colon adenocarcinoma(41;0.0642)|Kidney(143;0.0707) Glycine(DB00145) CACAACTGATGATTTACGATT 0.259000 28 73 0 0 1 0 0 CPXM2 119587 broad.mit.edu 37 10 125601992 125601992 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:125601992C>T ENST00000241305.3 - 4 680 c.526G>A c.(526-528)Gaa>Aaa p.E176K CPXM2_ENST00000368854.3_5'UTR NM_198148.2 NP_937791.2 Q8N436 CPXM2_HUMAN carboxypeptidase X (M14 family), member 2 176 F5/8 type C. cell adhesion|proteolysis extracellular space metallocarboxypeptidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3) 47 all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233) COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237) AAATCATTTTCATTAATGCCC 0.448000 21 37 0 0 1 0 0 MUC17 140453 broad.mit.edu 37 7 100677132 100677132 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:100677132C>T ENST00000306151.4 + 3 2499 c.2435C>T c.(2434-2436)cCt>cTt p.P812L NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 812 59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) ACAAGTATACCTGTCAGCATC 0.478000 197 679 0 0 1 0 0 MROH2B 133558 broad.mit.edu 37 5 41057410 41057410 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:41057410C>T ENST00000399564.4 - 8 1259 c.809G>A c.(808-810)aGg>aAg p.R270K MROH2B_ENST00000506092.2_Intron NM_173489.4 NP_775760.3 maestro heat-like repeat family member 2B TCTCAAGCTCCTTGGAAGGCC 0.423000 5 14 0 0 1 0 0 PSMD1 5707 broad.mit.edu 37 2 232003466 232003466 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:232003466C>T ENST00000308696.6 + 17 2062 c.1900C>T c.(1900-1902)Cca>Tca p.P634S PSMD1_ENST00000373635.4_Missense_Mutation_p.P634S|PSMD1_ENST00000409643.1_Missense_Mutation_p.P634S NM_002807.3 NP_002798.2 Q99460 PSMD1_HUMAN proteasome (prosome, macropain) 26S subunit, non-ATPase, 1 634 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction proteasome regulatory particle enzyme regulator activity|protein binding breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4) 31 Ovarian(221;0.000626)|Medulloblastoma(418;0.0109)|Renal(207;0.0112)|Lung NSC(271;0.0538)|all_lung(227;0.0713)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167) Epithelial(121;4e-26)|LUSC - Lung squamous cell carcinoma(224;0.0138)|Lung(119;0.0168) Bortezomib(DB00188) TGAACAGTGCCCAAGTGTTGT 0.433000 38 86 0 0 1 0 0 PI4KA 5297 broad.mit.edu 37 22 21075589 21075589 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr22:21075589C>T ENST00000255882.6 - 43 5199 c.5113G>A c.(5113-5115)Gac>Aac p.D1705N PI4KA_ENST00000414196.3_Missense_Mutation_p.D457N|PI4KA_ENST00000572273.1_Missense_Mutation_p.D1647N NM_058004.3 NP_477352.3 P42356 PI4KA_HUMAN phosphatidylinositol 4-kinase, catalytic, alpha 1647 Pleckstrin homology (PH) domain conferring phosphoinositide binding specificity (By similarity). phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission Golgi-associated vesicle 1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 79 all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196) TACTCACGGTCTTTCTGGTGG 0.522000 9 166 0 0 1 0 0 FARP1 10160 broad.mit.edu 37 13 99061620 99061620 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr13:99061620C>T ENST00000376586.2 + 14 1779 c.1443C>T c.(1441-1443)tcC>tcT p.S481S FARP1_ENST00000595437.1_Silent_p.S481S|FARP1_ENST00000319562.6_Silent_p.S481S Q9Y4F1 FARP1_HUMAN FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived) 481 regulation of Rho protein signal transduction cytoplasm|cytoskeleton|extrinsic to membrane cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1) 49 all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) BRCA - Breast invasive adenocarcinoma(86;0.233) CTCACCTTTCCGAGCTGTCTG 0.517000 12 66 0 0 1 0 0 MDGA1 266727 broad.mit.edu 37 6 37605165 37605165 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:37605165G>A ENST00000434837.2 - 17 4025 c.2847C>T c.(2845-2847)ttC>ttT p.F949F MDGA1_ENST00000297153.7_Silent_p.F953F NM_153487.3 NP_705691.1 Q8NFP4 MDGA1_HUMAN MAM domain containing glycosylphosphatidylinositol anchor 1 949 brain development|neuron migration|spinal cord association neuron differentiation anchored to plasma membrane central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(1) 38 ACGCCAAGAGGAAGATGGCCA 0.632000 26 109 0 0 1 0 0 MCMDC2 157777 broad.mit.edu 37 8 67786663 67786663 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:67786663C>T ENST00000422365.2 + 3 368 c.197C>T c.(196-198)cCt>cTt p.P66L MCMDC2_ENST00000492775.1_Missense_Mutation_p.P66L|MCMDC2_ENST00000396592.3_Missense_Mutation_p.P66L|MCMDC2_ENST00000313616.5_Missense_Mutation_p.P66L|MCMDC2_ENST00000469823.1_3'UTR|MCMDC2_ENST00000541540.1_Intron NM_173518.4 NP_775789.3 Q4G0Z9 CH045_HUMAN minichromosome maintenance domain containing 2 66 DNA replication ATP binding|DNA binding endometrium(2)|kidney(2)|lung(5) 9 TTACACCAACCTTTAAAAGCT 0.308000 33 90 0 0 1 0 0 ZNF831 128611 broad.mit.edu 37 20 57770972 57770972 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr20:57770972G>A ENST00000371030.2 + 2 3787 c.3787G>A c.(3787-3789)Gag>Aag p.E1263K NM_178457.1 NP_848552.1 Q5JPB2 ZN831_HUMAN zinc finger protein 831 1263 intracellular nucleic acid binding|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3) 125 all_lung(29;0.0085) CCAGGTGTCTGAGCCAGAATG 0.498000 100 213 0 0 1 0 0 IGHV1OR21-1 390530 broad.mit.edu 37 21 10862783 10862783 + RNA SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr21:10862783G>A ENST00000559480.1 + 0 79 breast(1)|endometrium(1)|kidney(3)|lung(20)|urinary_tract(1) 26 GGTGCAGTCTGGGGCTGAGGT 0.572000 49 331 0 0 1 0 0 HSPG2 3339 broad.mit.edu 37 1 22202157 22202157 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:22202157G>A ENST00000374695.3 - 25 3346 c.3267C>T c.(3265-3267)atC>atT p.I1089I NM_005529.5 NP_005520.4 P98160 PGBM_HUMAN heparan sulfate proteoglycan 2 1089 Laminin IV type A 2. angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process basement membrane|extracellular space|plasma membrane protein C-terminus binding breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3) 127 Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223) Becaplermin(DB00102)|Palifermin(DB00039) AGGATGCTCGGATCAGGAGGG 0.667000 11 156 0 0 1 0 0 CCDC78 124093 broad.mit.edu 37 16 773002 773002 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr16:773002C>T ENST00000293889.6 - 13 1322 c.1217G>A c.(1216-1218)gGg>gAg p.G406E NM_001031737.2 NP_001026907.2 A2IDD5 CCD78_HUMAN coiled-coil domain containing 78 406 central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|lung(2)|skin(3) 9 Hepatocellular(780;0.0218) GCAGCTGTGCCCGCTCCCGTT 0.652000 19 59 0 0 1 0 0 ABCA3 21 broad.mit.edu 37 16 2335471 2335471 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr16:2335471G>A ENST00000301732.5 - 23 4155 c.3455C>T c.(3454-3456)tCc>tTc p.S1152F ABCA3_ENST00000382381.3_Missense_Mutation_p.S1094F NM_001089.2 NP_001080.2 Q99758 ABCA3_HUMAN ATP-binding cassette, sub-family A (ABC1), member 3 1152 response to drug integral to membrane|lamellar body|membrane fraction|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1) 70 Ovarian(90;0.17) GATGAGGAAGGAGATGAGGTC 0.642000 11 17 0 0 1 0 0 CYP3A7 1551 broad.mit.edu 37 7 99328755 99328755 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:99328755C>T ENST00000336374.2 - 2 94 c.92G>A c.(91-93)gGa>gAa p.G31E NM_000765.3 NP_000756.2 P24462 CP3A7_HUMAN cytochrome P450, family 3, subfamily A, polypeptide 7 31 xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding autonomic_ganglia(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(4)|upper_aerodigestive_tract(1) 32 Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228) CTTAAAAAGTCCATGTGTACG 0.438000 30 124 0 0 1 0 0 SPTA1 6708 broad.mit.edu 37 1 158617464 158617464 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:158617464G>A ENST00000368148.3 - 27 3941 c.3761C>T c.(3760-3762)cCa>cTa p.P1254L SPTA1_ENST00000368147.3_Missense_Mutation_p.P1254L NM_003126.2 NP_003117.2 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 (elliptocytosis 2) 1254 actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6) 307 all_hematologic(112;0.0378) AGTGGCATCTGGATGGGACTC 0.532000 50 70 0 0 1 0 0 HGF 3082 broad.mit.edu 37 7 81358988 81358988 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:81358988G>A ENST00000222390.5 - 8 1199 c.973C>T c.(973-975)Cca>Tca p.P325S HGF_ENST00000457544.2_Missense_Mutation_p.P320S NM_000601.4 NP_000592.3 P14210 HGF_HUMAN hepatocyte growth factor (hepapoietin A; scatter factor) 325 Kringle 3. epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling platelet alpha granule lumen growth factor activity|serine-type endopeptidase activity NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1) 75 CGCTGACATGGAATTCCATTC 0.418000 59 152 0 0 1 0 0 SELP 6403 broad.mit.edu 37 1 169586484 169586484 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:169586484G>A ENST00000263686.6 - 3 300 c.263C>T c.(262-264)tCc>tTc p.S88F SELP_ENST00000458599.2_Missense_Mutation_p.S88F|SELP_ENST00000367792.2_Missense_Mutation_p.S88F|SELP_ENST00000367788.2_Missense_Mutation_p.S88F|SELP_ENST00000367794.2_Missense_Mutation_p.S88F|SELP_ENST00000367791.2_Missense_Mutation_p.S88F|SELP_ENST00000367786.2_Missense_Mutation_p.S88F|SELP_ENST00000367793.2_Missense_Mutation_p.S88F NM_003005.3 NP_002996.2 P16109 LYAM3_HUMAN selectin P (granule membrane protein 140kDa, antigen CD62) 88 C-type lectin. platelet activation|platelet degranulation|positive regulation of platelet activation external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 all_hematologic(923;0.208) Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775) CCAGTAGTAGGAGCTGTAGTA 0.438000 129 208 0 0 1 0 0 KIDINS220 57498 broad.mit.edu 37 2 8888036 8888036 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:8888036C>T ENST00000256707.3 - 25 3690 c.3509G>A c.(3508-3510)aGa>aAa p.R1170K KIDINS220_ENST00000473731.1_Missense_Mutation_p.R1170K|KIDINS220_ENST00000427284.1_Missense_Mutation_p.R1170K|KIDINS220_ENST00000418530.1_Intron NM_020738.2 NP_065789.1 Q9ULH0 KDIS_HUMAN kinase D-interacting substrate, 220kDa 1170 activation of MAPKK activity|nerve growth factor receptor signaling pathway cytosol|integral to membrane NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 60 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) GTTCTGATCTCTGGGCAAACT 0.393000 36 66 0 0 1 0 0 LPHN1 22859 broad.mit.edu 37 19 14262009 14262009 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:14262009C>T ENST00000340736.6 - 24 4398 c.4101G>A c.(4099-4101)gaG>gaA p.E1367E CTB-55O6.12_ENST00000588658.1_RNA|LPHN1_ENST00000361434.3_Silent_p.E1362E|CTB-55O6.12_ENST00000588387.1_RNA NM_001008701.2 NP_001008701.1 O94910 LPHN1_HUMAN latrophilin 1 1367 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|sugar binding central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 TGGCGCCGTCCTCGGCCGTGC 0.687000 14 29 0 0 1 0 0 SPATA31C1 441452 broad.mit.edu 37 9 90535448 90535448 + RNA SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:90535448C>T ENST00000602681.1 + 0 1352 GAACGCCCCTCACCCGAGCCA 0.632000 146 259 0 0 1 0 0 FZD7 8324 broad.mit.edu 37 2 202900822 202900822 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:202900822C>T ENST00000286201.1 + 1 1513 c.1452C>T c.(1450-1452)atC>atT p.I484I NM_003507.1 NP_003498.1 O75084 FZD7_HUMAN frizzled family receptor 7 484 axonogenesis|brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|mesenchymal to epithelial transition|negative regulation of cell-substrate adhesion|negative regulation of ectodermal cell fate specification|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of phosphorylation|positive regulation of transcription, DNA-dependent|regulation of catenin import into nucleus|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway apical part of cell|cytoplasm|integral to membrane|neuron projection membrane G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding breast(1)|endometrium(6)|large_intestine(6)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2) 31 CCGCCACCATCGTCCTGGCCT 0.637000 OREG0015146 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 38 88 0 0 1 0 0 NOD2 64127 broad.mit.edu 37 16 50759450 50759450 + Missense_Mutation SNP G G A rs104895457 TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr16:50759450G>A ENST00000300589.2 + 10 3038 c.2933G>A c.(2932-2934)gGa>gAa p.G978E NM_022162.1 NP_071445.1 Q9HC29 NOD2_HUMAN nucleotide-binding oligomerization domain containing 2 978 activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of gamma-delta T cell activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of Notch signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cell surface|cytosol|plasma membrane|vesicle ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3) 52 all_cancers(37;0.0156) CTCGCAGAAGGACTGAAGAAA 0.413000 35 45 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179516473 179516473 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:179516473G>A ENST00000589042.1 - 206 39607 c.39383C>T c.(39382-39384)aCc>aTc p.T13128I TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.T11621I|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.T10694I|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000589487.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 11481 Ig-like 87. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) AGGTGGTACGGTCACTAAAGA 0.433000 21 25 0 0 1 0 0 SPATA31A6 389730 broad.mit.edu 37 9 43627156 43627156 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:43627156G>A ENST00000332857.6 - 4 1559 c.1531C>T c.(1531-1533)Cca>Tca p.P511S NM_001145196.1 NP_001138668.1 SPATA31 subfamily A, member 6 ATCAGGGATGGAAAAGCAGGA 0.507000 201 436 0 0 1 0 0 SLC23A2 9962 broad.mit.edu 37 20 4855285 4855285 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr20:4855285G>A ENST00000379333.1 - 10 1274 c.882C>T c.(880-882)ctC>ctT p.L294L SLC23A2_ENST00000338244.1_Silent_p.L294L|SLC23A2_ENST00000468355.1_5'UTR|SLC23A2_ENST00000424750.2_Silent_p.L180L NM_203327.1 NP_976072.1 Q9UGH3 S23A2_HUMAN solute carrier family 23 (ascorbic acid transporter), member 2 294 L-ascorbic acid metabolic process|molecular hydrogen transport|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|transepithelial L-ascorbic acid transport apical plasma membrane|integral to plasma membrane|membrane fraction nucleobase transmembrane transporter activity|sodium-dependent L-ascorbate transmembrane transporter activity|sodium-dependent multivitamin transmembrane transporter activity endometrium(1)|kidney(3)|large_intestine(9)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 27 TATAAATCGGGAGAGGAAATT 0.388000 60 111 0 0 1 0 0 FLRT2 23768 broad.mit.edu 37 14 86088580 86088580 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr14:86088580C>T ENST00000330753.4 + 2 1489 c.722C>T c.(721-723)tCg>tTg p.S241L FLRT2_ENST00000554746.1_Missense_Mutation_p.S241L NM_013231.4 NP_037363.1 O43155 FLRT2_HUMAN fibronectin leucine rich transmembrane protein 2 241 cell adhesion integral to plasma membrane|proteinaceous extracellular matrix protein binding, bridging|receptor signaling protein activity NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 73 BRCA - Breast invasive adenocarcinoma(234;0.0319) GTACGTAATTCGCTGTCCCAC 0.502000 48 92 0 0 1 0 0 C7 730 broad.mit.edu 37 5 40934527 40934527 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:40934527C>T ENST00000313164.9 + 4 598 c.239C>T c.(238-240)cCa>cTa p.P80L NM_000587.2 NP_000578.2 P10643 CO7_HUMAN complement component 7 80 TSP type-1 1. complement activation, alternative pathway|complement activation, classical pathway|cytolysis extracellular region|membrane attack complex Ovarian(839;0.0112) AGAGGATGTCCAACAGAGGAG 0.468000 46 154 0 0 1 0 0 KBTBD2 25948 broad.mit.edu 37 7 32909721 32909721 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:32909721G>A ENST00000304056.4 - 4 1807 c.1108C>T c.(1108-1110)Cgc>Tgc p.R370C AVL9_ENST00000404479.1_Intron NM_015483.2 NP_056298.2 Q8IY47 KBTB2_HUMAN kelch repeat and BTB (POZ) domain containing 2 370 endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|urinary_tract(1) 17 GBM - Glioblastoma multiforme(11;0.0499) GGCTTTATGCGGACAAAAAGC 0.423000 15 180 0 0 1 0 0 LRRC66 339977 broad.mit.edu 37 4 52861867 52861867 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:52861867G>A ENST00000343457.3 - 4 1327 c.1321C>T c.(1321-1323)Cat>Tat p.H441Y NM_001024611.1 NP_001019782.1 Q68CR7 LRC66_HUMAN leucine rich repeat containing 66 441 integral to membrane central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1) 58 TGGCGCAGATGGGTCTCTGGG 0.547000 43 97 0 0 1 0 0 ZNF226 7769 broad.mit.edu 37 19 44680000 44680000 + Missense_Mutation SNP A A C TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:44680000A>C ENST00000590089.1 + 7 952 c.585A>C c.(583-585)aaA>aaC p.K195N ZNF226_ENST00000337433.5_Missense_Mutation_p.K195N|ZNF226_ENST00000588883.1_3'UTR|ZNF226_ENST00000454662.2_Missense_Mutation_p.K195N Q9NYT6 ZN226_HUMAN zinc finger protein 226 195 K -> E (in Ref. 1; AAF34786). regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding Prostate(69;0.0352)|all_neural(266;0.202) TAAAAAATAAATTATGTCAAT 0.368000 28 33 0 0 1 0 0 TRAV9-1 28678 broad.mit.edu 37 14 22280038 22280038 + RNA SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr14:22280038G>A ENST00000390431.3 + 0 227 AATGACAAGGGAAGGAACAAA 0.458000 28 52 0 0 1 0 0 QPCTL 54814 broad.mit.edu 37 19 46206238 46206238 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:46206238C>T ENST00000012049.5 + 7 1301 c.1080C>T c.(1078-1080)ctC>ctT p.L360L QPCTL_ENST00000366382.4_Silent_p.L266L NM_017659.3 NP_060129.2 Q9NXS2 QPCTL_HUMAN glutaminyl-peptide cyclotransferase-like 360 peptidyl-pyroglutamic acid biosynthetic process, using glutaminyl-peptide cyclotransferase|proteolysis Golgi membrane|integral to membrane acyltransferase activity|glutaminyl-peptide cyclotransferase activity|peptidase activity|protein binding|zinc ion binding breast(1)|cervix(2)|endometrium(1)|lung(5)|skin(1)|stomach(1) 11 Ovarian(192;0.051)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.0059)|GBM - Glioblastoma multiforme(486;0.0882)|Epithelial(262;0.208) AGGTCAATCTCCACCCACCCA 0.587000 57 91 0 0 1 0 0 ZNF596 169270 broad.mit.edu 37 8 193775 193775 + Missense_Mutation SNP C C G TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:193775C>G ENST00000398612.1 + 4 576 c.193C>G c.(193-195)Ctt>Gtt p.L65V ZNF596_ENST00000522866.1_3'UTR|ZNF596_ENST00000308811.4_Missense_Mutation_p.L65V|ZNF596_ENST00000320552.2_Intron NM_001042415.1|NM_001042416.1 NP_001035880.1|NP_001035881.1 Q8TC21 ZN596_HUMAN zinc finger protein 596 65 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding autonomic_ganglia(1)|endometrium(2)|large_intestine(6)|lung(5) 14 all_cancers(2;4.81e-29)|all_epithelial(2;5.03e-19)|Lung NSC(2;8.68e-08)|all_lung(2;1.52e-07)|Ovarian(12;0.00965)|Colorectal(14;0.0367)|all_neural(12;0.0837)|Myeloproliferative disorder(644;0.116)|all_hematologic(2;0.138)|Acute lymphoblastic leukemia(644;0.242) Epithelial(5;3.77e-18)|all cancers(2;5.2e-17)|OV - Ovarian serous cystadenocarcinoma(5;5.37e-09)|BRCA - Breast invasive adenocarcinoma(11;1.7e-06)|Colorectal(2;6.51e-05)|READ - Rectum adenocarcinoma(2;0.0276)|COAD - Colon adenocarcinoma(149;0.0702) AGTAGAGAAACTTTCAACACA 0.433000 46 77 0 0 1 0 0 C20orf26 26074 broad.mit.edu 37 20 20209000 20209000 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr20:20209000C>T ENST00000245957.5 + 18 2116 c.2040C>T c.(2038-2040)ttC>ttT p.F680F C20orf26_ENST00000497372.1_3'UTR|C20orf26_ENST00000389656.3_Silent_p.F36F|C20orf26_ENST00000377309.2_Silent_p.F36F|C20orf26_ENST00000377293.1_Silent_p.F36F NM_015585.3 NP_056400.3 Q8NHU2 CT026_HUMAN chromosome 20 open reading frame 26 680 NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 77 READ - Rectum adenocarcinoma(2;0.171) GAATTTCCTTCCTAGAGACAT 0.338000 9 262 0 0 1 0 0 IQGAP2 10788 broad.mit.edu 37 5 75954480 75954480 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:75954480G>A ENST00000274364.6 + 21 2814 c.2517G>A c.(2515-2517)agG>agA p.R839R IQGAP2_ENST00000502745.1_Silent_p.R335R|IQGAP2_ENST00000396234.3_Silent_p.R335R|IQGAP2_ENST00000379730.3_Silent_p.R341R NM_006633.2 NP_006624.2 Q13576 IQGA2_HUMAN IQ motif containing GTPase activating protein 2 839 small GTPase mediated signal transduction actin cytoskeleton actin binding|calmodulin binding|GTPase inhibitor activity|Ras GTPase activator activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 68 all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149) all cancers(79;1.38e-36) TGAAGAACAGGATCACACTAG 0.473000 36 62 0 0 1 0 0 CNTNAP2 26047 broad.mit.edu 37 7 148080939 148080939 + Missense_Mutation SNP C C T rs147706292 TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:148080939C>T ENST00000361727.3 + 22 4190 c.3674C>T c.(3673-3675)tCg>tTg p.S1225L CNTNAP2_ENST00000463592.2_3'UTR|CNTNAP2_ENST00000538075.1_Missense_Mutation_p.S284L NM_014141.5 NP_054860.1 Q9UHC6 CNTP2_HUMAN contactin associated protein-like 2 1225 behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex receptor binding NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3) 188 Melanoma(164;0.153) all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794) OV - Ovarian serous cystadenocarcinoma(82;0.0319) TCCCCCATGTCGTCCGCCACC 0.607000 HNSCC(39;0.1) 42 31 0 0 1 0 0 PTPRE 5791 broad.mit.edu 37 10 129861438 129861438 + Silent SNP G G A rs148187282 TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:129861438G>A ENST00000254667.3 + 10 996 c.717G>A c.(715-717)agG>agA p.R239R PTPRE_ENST00000419012.2_Silent_p.R239R|PTPRE_ENST00000430713.2_3'UTR|PTPRE_ENST00000306042.5_Silent_p.R181R NM_006504.4 NP_006495.1 P23469 PTPRE_HUMAN protein tyrosine phosphatase, receptor type, E 239 Tyrosine-protein phosphatase 1. negative regulation of insulin receptor signaling pathway|protein phosphorylation cytoplasm|integral to membrane|intermediate filament cytoskeleton|nucleus|plasma membrane transmembrane receptor protein tyrosine phosphatase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 22 all_epithelial(44;1.66e-05)|all_lung(145;0.00456)|Lung NSC(174;0.0066)|all_neural(114;0.0936)|Colorectal(57;0.141)|Breast(234;0.166)|Melanoma(40;0.203) TGAAAGAAAGGAAAGAGGTGA 0.502000 16 46 0 0 1 0 0 ACOT11 26027 broad.mit.edu 37 1 55050423 55050423 + Missense_Mutation SNP C C G TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:55050423C>G ENST00000371316.3 + 2 211 c.129C>G c.(127-129)aaC>aaG p.N43K ACOT11_ENST00000343744.2_Missense_Mutation_p.N43K|ACOT11_ENST00000481208.1_3'UTR NM_015547.3 NP_056362.1 Q8WXI4 ACO11_HUMAN acyl-CoA thioesterase 11 43 Acyl coenzyme A hydrolase 1. fatty acid metabolic process|intracellular signal transduction|response to cold acyl-CoA thioesterase activity|carboxylesterase activity NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(3)|lung(5)|ovary(1) 17 GATACCGGAACCCCACGGAGG 0.637000 26 64 0 0 1 0 0 PKD1L1 168507 broad.mit.edu 37 7 47872754 47872754 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:47872754G>A ENST00000289672.2 - 41 6321 c.6271C>T c.(6271-6273)Cat>Tat p.H2091Y NM_138295.3 NP_612152.1 Q8TDX9 PK1L1_HUMAN polycystic kidney disease 1 like 1 2091 cell-cell adhesion integral to membrane BBS9/PKD1L1(2) NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5) 142 TCAGCCCCATGAACCTGCAGC 0.587000 12 34 0 0 1 0 0 CHST3 9469 broad.mit.edu 37 10 73767166 73767166 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:73767166C>T ENST00000373115.4 + 3 814 c.377C>T c.(376-378)cCg>cTg p.P126L NM_004273.4 NP_004264.2 Q7LGC8 CHST3_HUMAN carbohydrate (chondroitin 6) sulfotransferase 3 126 chondroitin sulfate biosynthetic process Golgi membrane|integral to membrane chondroitin 6-sulfotransferase activity endometrium(1)|lung(5) 6 CCGCCCAGACCGGCCGTGGCG 0.682000 10 25 0 0 1 0 0 C9 735 broad.mit.edu 37 5 39341330 39341330 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:39341330C>T ENST00000263408.4 - 4 489 c.394G>A c.(394-396)Gat>Aat p.D132N C9_ENST00000509186.1_5'UTR NM_001737.3 NP_001728.1 P02748 CO9_HUMAN complement component 9 132 LDL-receptor class A. complement activation, alternative pathway|complement activation, classical pathway|cytolysis|hemolysis by symbiont of host erythrocytes extracellular region|membrane attack complex central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 32 all_lung(31;0.000197) all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511) Epithelial(62;0.158) TCACAATCATCCTCATCTGAA 0.473000 54 337 0 0 1 0 0 MYOCD 93649 broad.mit.edu 37 17 12655851 12655851 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:12655851G>A ENST00000425538.1 + 10 1446 c.1246G>A c.(1246-1248)Ggg>Agg p.G416R MYOCD_ENST00000343344.4_Missense_Mutation_p.G416R|MYOCD_ENST00000395988.1_Missense_Mutation_p.G320R NM_001146312.1|NM_153604.2 NP_001139784.1|NP_705832.1 Q8IZQ8 MYCD_HUMAN myocardin 416 cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation nucleus nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 70 UCEC - Uterine corpus endometrioid carcinoma (92;0.0969) GCCGAACTTTGGGGATATAAC 0.552000 45 78 0 0 1 0 0 KRTAP1-5 83895 broad.mit.edu 37 17 39183142 39183142 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:39183142C>T ENST00000361883.5 - 1 312 c.266G>A c.(265-267)aGc>aAc p.S89N NM_031957.1 NP_114163.1 Q9BYS1 KRA15_HUMAN keratin associated protein 1-5 89 15 X 5 AA repeats of C-C-[QEPVRC]- [TPIVLE]-[SRHVP]. keratin filament central_nervous_system(1)|endometrium(2)|kidney(1)|lung(9)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2) 17 Breast(137;0.00043) STAD - Stomach adenocarcinoma(17;0.000371) TCCGCAGGAGCTGATCTGGCA 0.632000 25 49 0 0 1 0 0 TRIM51HP 440041 broad.mit.edu 37 11 55065015 55065015 + RNA SNP T T A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:55065015T>A ENST00000526016.1 - 0 410 NR_038174.2 CACAAGCTTTTTCCCACAAAG 0.398000 23 71 0 0 1 0 0 DPCR1 135656 broad.mit.edu 37 6 30920141 30920141 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:30920141C>T ENST00000462446.1 + 2 3928 c.3900C>T c.(3898-3900)ctC>ctT p.L1300L DPCR1_ENST00000304311.2_Silent_p.L142L|HCG21_ENST00000419481.1_RNA Q3MIW9 DPCR1_HUMAN diffuse panbronchiolitis critical region 1 424 integral to membrane endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|pancreas(1) 10 ATCCATACCTCAATAAAGATG 0.483000 44 131 0 0 1 0 0 EIF3A 8661 broad.mit.edu 37 10 120796713 120796713 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:120796713G>A ENST00000369144.3 - 21 3964 c.3837C>T c.(3835-3837)gaC>gaT p.D1279D EIF3A_ENST00000478852.1_Intron|EIF3A_ENST00000541549.1_Silent_p.D1245D NM_003750.2 NP_003741.1 Q14152 EIF3A_HUMAN eukaryotic translation initiation factor 3, subunit A 1279 Asp-rich. formation of translation initiation complex cytosol|eukaryotic translation initiation factor 3 complex protein binding|structural molecule activity|translation initiation factor activity endometrium(8)|kidney(4)|large_intestine(14)|lung(22)|prostate(1)|skin(4)|urinary_tract(3) 56 Lung NSC(174;0.094)|all_lung(145;0.123) all cancers(201;0.0236) GATCACGCCGGTCATCCCTCT 0.532000 64 129 0 0 1 0 0 ATP8B4 79895 broad.mit.edu 37 15 50271917 50271917 + Missense_Mutation SNP A A T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr15:50271917A>T ENST00000284509.6 - 12 1072 c.931T>A c.(931-933)Ttt>Att p.F311I ATP8B4_ENST00000558959.1_5'UTR|ATP8B4_ENST00000559829.1_Missense_Mutation_p.F311I NM_024837.2 NP_079113.2 Q8TF62 AT8B4_HUMAN ATPase, class I, type 8B, member 4 311 ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1) 73 all_lung(180;0.00183) all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05) TCATTCCAAAAGAGGAAAGTT 0.363000 9 164 0 0 1 0 0 XKR5 389610 broad.mit.edu 37 8 6682824 6682824 + RNA SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:6682824G>A ENST00000518724.1 - 0 440 Q6UX68 XKR5_HUMAN XK, Kell blood group complex subunit-related family, member 5 integral to membrane endometrium(1)|large_intestine(1)|lung(1) 3 STAD - Stomach adenocarcinoma(24;0.0984) READ - Rectum adenocarcinoma(644;0.137)|COAD - Colon adenocarcinoma(149;0.166) GCCTCGGTGGGGAGCCTCCAG 0.637000 13 9 0 0 1 0 0 DLEC1 9940 broad.mit.edu 37 3 38149919 38149919 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:38149919C>T ENST00000308059.6 + 21 3063 c.3042C>T c.(3040-3042)ttC>ttT p.F1014F DLEC1_ENST00000452631.2_Silent_p.F1014F|DLEC1_ENST00000346219.3_Silent_p.F1014F Q9Y238 DLEC1_HUMAN deleted in lung and esophageal cancer 1 1014 negative regulation of cell proliferation cytoplasm NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 51 KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827) AAGCAGAATTCTGCATGGTGA 0.552000 28 30 0 0 1 0 0 SLC39A10 57181 broad.mit.edu 37 2 196545002 196545002 + Missense_Mutation SNP T T C TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:196545002T>C ENST00000409086.3 + 2 511 c.236T>C c.(235-237)tTt>tCt p.F79S SLC39A10_ENST00000541054.1_Intron|SLC39A10_ENST00000359634.5_Missense_Mutation_p.F79S NM_001127257.1 NP_001120729.1 Q9ULF5 S39AA_HUMAN solute carrier family 39 (zinc transporter), member 10 79 zinc ion transport integral to membrane metal ion transmembrane transporter activity breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(16)|pancreas(1)|prostate(1)|skin(2) 34 OV - Ovarian serous cystadenocarcinoma(117;0.221) AGATTATCCTTTTTTGGTTTG 0.338000 7 123 0 0 1 0 0 SERPINB3 6317 broad.mit.edu 37 18 61324085 61324085 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr18:61324085C>T ENST00000283752.5 - 7 891 c.748G>A c.(748-750)Gaa>Aaa p.E250K SERPINB11_ENST00000489748.1_RNA|SERPINB3_ENST00000332821.8_Intron NM_006919.2 NP_008850.1 P29508 SPB3_HUMAN serpin peptidase inhibitor, clade B (ovalbumin), member 3 250 regulation of proteolysis cytoplasm|extracellular region protein binding|serine-type endopeptidase inhibitor activity breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|skin(5)|upper_aerodigestive_tract(2) 36 CCATCGATTTCATTTGGCAGC 0.413000 66 124 0 0 1 0 0 NUP210L 91181 broad.mit.edu 37 1 154002409 154002409 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:154002409C>T ENST00000368559.3 - 28 3889 c.3818G>A c.(3817-3819)gGg>gAg p.G1273E NUP210L_ENST00000368553.1_Missense_Mutation_p.G206E|NUP210L_ENST00000271854.3_Missense_Mutation_p.G1273E NM_207308.2 NP_997191.2 Q5VU65 P210L_HUMAN nucleoporin 210kDa-like 1273 integral to membrane NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2) 80 all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128) LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198) CAACAAATTCCCCTCAAACTG 0.403000 32 107 0 0 1 0 0 PDXDC2P 283970 broad.mit.edu 37 16 70010572 70010572 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr16:70010572C>T ENST00000532298.1 - 7 705 c.706G>A c.(706-708)Gct>Act p.A236T PDXDC2P_ENST00000531894.1_RNA breast(2)|endometrium(2)|kidney(6)|lung(2)|prostate(1) 13 AAAGTTTCAGCTGTGAGGTAG 0.502000 23 69 0 0 1 0 0 SNHG14 104472715 broad.mit.edu 37 15 25227088 25227088 + RNA SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr15:25227088G>A ENST00000551631.2 + 0 391 NR_001293.1 AAACTGCTCAGGTAAAATAAC 0.368000 89 145 0 0 1 0 0 RNF180 285671 broad.mit.edu 37 5 63509788 63509788 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:63509788C>T ENST00000389100.4 + 4 707 c.635C>T c.(634-636)cCc>cTc p.P212L RNF180_ENST00000381081.2_Intron|RNF180_ENST00000296615.6_Missense_Mutation_p.P212L NM_001113561.1 NP_001107033.1 Q86T96 RN180_HUMAN ring finger protein 180 212 integral to membrane|nuclear envelope zinc ion binding breast(1)|kidney(1)|large_intestine(4)|lung(9)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 20 Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0848)|Colorectal(97;0.234) Lung(70;0.114) CTTTTTGTTCCCCAGCTTGTG 0.418000 35 57 0 0 1 0 0 CPNE4 131034 broad.mit.edu 37 3 131261456 131261456 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:131261456C>T ENST00000512055.1 - 19 3610 c.1484G>A c.(1483-1485)gGa>gAa p.G495E CPNE4_ENST00000512332.1_Missense_Mutation_p.G513E|CPNE4_ENST00000511604.1_Missense_Mutation_p.G495E|CPNE4_ENST00000502818.1_Missense_Mutation_p.G513E|CPNE4_ENST00000429747.1_Missense_Mutation_p.G495E Q96A23 CPNE4_HUMAN copine IV 495 VWFA. central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|liver(1)|lung(16)|prostate(2)|skin(3)|upper_aerodigestive_tract(3) 39 AACAGGCTCTCCCTTGGGTGA 0.517000 41 76 0 0 1 0 0 DZANK1 55184 broad.mit.edu 37 20 18435991 18435991 + Translation_Start_Site SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr20:18435991C>T ENST00000357236.4 - 0 486 DZANK1_ENST00000262547.5_Missense_Mutation_p.S93N|DZANK1_ENST00000329494.5_Missense_Mutation_p.S93N|DZANK1_ENST00000377630.5_De_novo_Start_InFrame Q9NVP4 CT012_HUMAN double zinc ribbon and ankyrin repeat domains 1 intracellular zinc ion binding NS(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(10) 19 CACAATGCCACTCTGTCTGCA 0.338000 5 16 0 0 1 0 0 CDH23 64072 broad.mit.edu 37 10 73485248 73485248 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:73485248G>A ENST00000224721.6 + 29 3570 c.3565G>A c.(3565-3567)Gac>Aac p.D1189N C10orf105_ENST00000398786.2_Intron NM_022124.5 NP_071407.4 Q9H251 CAD23_HUMAN cadherin-related 23 1184 Cadherin 11. calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound cytosol|integral to membrane|plasma membrane|stereocilium calcium ion binding|protein binding NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3) 133 CTACAACCACGACCTGGGCCC 0.672000 14 20 0 0 1 0 0 KIAA0895L 653319 broad.mit.edu 37 16 67214452 67214452 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr16:67214452G>A ENST00000290881.7 - 3 988 c.62C>T c.(61-63)cCc>cTc p.P21L KIAA0895L_ENST00000561621.1_Missense_Mutation_p.P21L|KIAA0895L_ENST00000563902.1_Missense_Mutation_p.P21L|KIAA0895L_ENST00000563831.2_Intron Q68EN5 K895L_HUMAN KIAA0895-like 21 Pro-rich. breast(2)|endometrium(5)|kidney(2)|large_intestine(3)|lung(2)|prostate(2)|skin(1) 17 CAGGGATGGGGGACTGGTAGG 0.657000 4 42 0 0 1 0 0 RTL1 388015 broad.mit.edu 37 14 101347471 101347471 + Missense_Mutation SNP A A G TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr14:101347471A>G ENST00000534062.1 - 1 3713 c.3655T>C c.(3655-3657)Tac>Cac p.Y1219H NM_001134888.2 NP_001128360.1 E9PKS8 E9PKS8_HUMAN retrotransposon-like 1 1219 breast(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(5)|pancreas(1)|prostate(2)|skin(2) 21 AGCTCCAGGTAGCGGTTCTGA 0.617000 6 14 0 0 1 0 0 DLX2 1746 broad.mit.edu 37 2 172965462 172965462 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:172965462C>T ENST00000234198.4 - 3 1157 c.796G>A c.(796-798)Ggc>Agc p.G266S DLX2_ENST00000466293.2_3'UTR NM_004405.3 NP_004396.1 Q07687 DLX2_HUMAN distal-less homeobox 2 266 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(1)|large_intestine(1)|lung(6)|ovary(2)|urinary_tract(1) 11 OV - Ovarian serous cystadenocarcinoma(117;0.216) GGGCTGGAGCCCGAGCTGCCG 0.741000 8 6 0 0 1 0 0 KCNK10 54207 broad.mit.edu 37 14 88729874 88729874 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr14:88729874G>A ENST00000340700.5 - 2 510 c.59C>T c.(58-60)cCg>cTg p.P20L KCNK10_ENST00000319231.5_Missense_Mutation_p.P25L|KCNK10_ENST00000312350.5_Missense_Mutation_p.P25L NM_021161.4 NP_066984.1 P57789 KCNKA_HUMAN potassium channel, subfamily K, member 10 20 signal transduction integral to membrane potassium channel activity|voltage-gated ion channel activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 47 CTGGCACACCGGTGCTGCTGC 0.572000 43 83 0 0 1 0 0 SLC25A47 283600 broad.mit.edu 37 14 100795800 100795800 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr14:100795800G>A ENST00000361529.3 + 6 823 c.745G>A c.(745-747)Ggg>Agg p.G249R SLC25A47_ENST00000557052.1_Missense_Mutation_p.G103R NM_207117.2 NP_997000.2 Q6Q0C1 S2547_HUMAN solute carrier family 25, member 47 249 transmembrane transport integral to membrane|mitochondrial inner membrane binding central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|prostate(1)|skin(2)|urinary_tract(1) 13 GCAGGCAGACGGGCAGGGCCA 0.657000 46 108 0 0 1 0 0 OTOGL 283310 broad.mit.edu 37 12 80762046 80762046 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:80762046C>T ENST00000458043.2 + 54 6551 c.6545C>T c.(6544-6546)tCc>tTc p.S2182F OTOGL_ENST00000546620.1_Missense_Mutation_p.S201F|OTOGL_ENST00000547103.1_Missense_Mutation_p.S2170F NM_173591.3 NP_775862.3 otogelin-like breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1) 23 AAAAATGTATCCTGCAAATTT 0.388000 10 13 0 0 1 0 0 OR2F1 26211 broad.mit.edu 37 7 143657345 143657345 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:143657345C>T ENST00000392899.1 + 1 319 c.282C>T c.(280-282)ttC>ttT p.F94F NM_012369.2 NP_036501.2 Q13607 OR2F1_HUMAN olfactory receptor, family 2, subfamily F, member 1 (gene/pseudogene) 94 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|skin(4) 34 Melanoma(164;0.0903) CCATCCCATTCCAGAGCTGTG 0.517000 17 392 0 0 1 0 0 IGBP1 3476 broad.mit.edu 37 X 69385819 69385819 + Missense_Mutation SNP G G C TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chrX:69385819G>C ENST00000342206.6 + 6 1507 c.1008G>C c.(1006-1008)caG>caC p.Q336H IGBP1_ENST00000356413.4_Missense_Mutation_p.Q336H P78318 IGBP1_HUMAN immunoglobulin (CD79A) binding protein 1 336 B cell activation|negative regulation of caspase activity|negative regulation of stress-activated MAPK cascade|negative regulation of transcription from RNA polymerase II promoter|regulation of microtubule-based movement|response to interleukin-1|response to tumor necrosis factor|signal transduction cytoplasm protein phosphatase type 2A regulator activity kidney(2)|large_intestine(3)|lung(3)|pancreas(1)|prostate(2) 11 GGAACCGACAGAACATGGGCT 0.557000 3 28 0 0 1 0 0 LRRC7 57554 broad.mit.edu 37 1 70486792 70486792 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:70486792G>A ENST00000310961.5 + 17 1844 c.1426G>A c.(1426-1428)Gaa>Aaa p.E476K LRRC7_ENST00000035383.5_Missense_Mutation_p.E471K|LRRC7_ENST00000415775.2_Silent_p.T2T|RP11-181B18.1_ENST00000425754.1_RNA|RP11-181B18.1_ENST00000414132.1_RNA Q96NW7 LRRC7_HUMAN leucine rich repeat containing 7 471 centrosome|focal adhesion|nucleolus protein binding breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 162 AGAAGATGACGAAAATGCTGG 0.388000 27 56 0 0 1 0 0 CLSPN 63967 broad.mit.edu 37 1 36214077 36214077 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:36214077G>A ENST00000251195.5 - 13 2497 c.2401C>T c.(2401-2403)Cct>Tct p.P801S CLSPN_ENST00000318121.3_Missense_Mutation_p.P801S|CLSPN_ENST00000520551.1_Missense_Mutation_p.P748S|CLSPN_ENST00000373220.3_Missense_Mutation_p.P737S Q9HAW4 CLSPN_HUMAN claspin 801 activation of protein kinase activity|cell cycle|cellular component disassembly involved in apoptosis|DNA repair|DNA replication|G2/M transition DNA damage checkpoint|mitotic cell cycle DNA replication checkpoint|peptidyl-serine phosphorylation nucleoplasm anaphase-promoting complex binding|DNA binding NS(2)|breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 56 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887) CCTGCTGTAGGGAAAAAACTG 0.488000 57 112 0 0 1 0 0 SGSM1 129049 broad.mit.edu 37 22 25264729 25264729 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr22:25264729G>A ENST00000400358.4 + 12 1255 c.1198G>A c.(1198-1200)Ggt>Agt p.G400S SGSM1_ENST00000400359.4_Missense_Mutation_p.G400S NM_001098497.1|NM_001098498.1 NP_001091967.1|NP_001091968.1 Q2NKQ1 SGSM1_HUMAN small G protein signaling modulator 1 400 Golgi apparatus Rab GTPase activator activity NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 41 AAGCCCTCAGGGTTCTGCCGA 0.502000 83 119 0 0 1 0 0 S1PR4 8698 broad.mit.edu 37 19 3178808 3178808 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:3178808C>T ENST00000246115.3 + 1 73 c.18C>T c.(16-18)acC>acT p.T6T S1PR4_ENST00000591346.1_Intron NM_003775.3 NP_003766.1 O95977 S1PR4_HUMAN sphingosine-1-phosphate receptor 4 6 activation of phospholipase C activity|elevation of cytosolic calcium ion concentration|immune response integral to plasma membrane lipid binding|lysosphingolipid and lysophosphatidic acid receptor activity breast(1)|kidney(2)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 13 CCACGGGGACCCCGGTGGCCC 0.692000 3 5 0 0 1 0 0 OR51A2 401667 broad.mit.edu 37 11 4976533 4976533 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:4976533G>A ENST00000380371.1 - 1 410 c.411C>T c.(409-411)atC>atT p.I137I MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron NM_001004748.1 NP_001004748.1 Q8NGJ7 O51A2_HUMAN olfactory receptor, family 51, subfamily A, member 2 137 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19) CAGTTGTCAGGATTGAGGTGT 0.428000 36 140 0 0 1 0 0 SLC39A10 57181 broad.mit.edu 37 2 196599676 196599676 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:196599676C>T ENST00000409086.3 + 10 2682 c.2407C>T c.(2407-2409)Ctt>Ttt p.L803F SLC39A10_ENST00000541054.1_Missense_Mutation_p.L353F|SLC39A10_ENST00000359634.5_Missense_Mutation_p.L803F NM_001127257.1 NP_001120729.1 Q9ULF5 S39AA_HUMAN solute carrier family 39 (zinc transporter), member 10 803 zinc ion transport integral to membrane metal ion transmembrane transporter activity breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(16)|pancreas(1)|prostate(1)|skin(2) 34 OV - Ovarian serous cystadenocarcinoma(117;0.221) GCAATTCATCCTTCAGAATTT 0.383000 66 107 0 0 1 0 0 KCNK6 9424 broad.mit.edu 37 19 38817922 38817922 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:38817922C>T ENST00000263372.3 + 3 928 c.821C>T c.(820-822)cCg>cTg p.P274L NM_004823.1 NP_004814.1 Q9Y257 KCNK6_HUMAN potassium channel, subfamily K, member 6 274 voltage-gated potassium channel complex inward rectifier potassium channel activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(3) 17 all_cancers(60;5.83e-07) Lung(45;0.00047)|LUSC - Lung squamous cell carcinoma(53;0.000613) Ibutilide(DB00308)|Quinidine(DB00908) CTGCCCCCTCCGTGCCCTGCC 0.662000 42 85 0 0 1 0 0 FRY 10129 broad.mit.edu 37 13 32722081 32722081 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr13:32722081C>T ENST00000380250.3 + 13 1885 c.1389C>T c.(1387-1389)gcC>gcT p.A463A NM_023037.2 NP_075463.2 Q5TBA9 FRY_HUMAN furry homolog (Drosophila) 463 regulation of transcription, DNA-dependent|transcription, DNA-dependent integral to membrane NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 132 Lung SC(185;0.0271) all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104) AGTTCATTGCCCAGGTAATGG 0.448000 29 65 0 0 1 0 0 PLCL2 23228 broad.mit.edu 37 3 17051703 17051703 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:17051703C>T ENST00000418129.2 + 2 952 c.487C>T c.(487-489)Ctg>Ttg p.L163L PLCL2_ENST00000460467.1_Intron|PLCL2_ENST00000432376.1_Silent_p.L163L|PLCL2_ENST00000396755.2_Silent_p.L163L NM_001144382.1 NP_001137854.1 Q9UPR0 PLCL2_HUMAN phospholipase C-like 2 289 PH. intracellular signal transduction|lipid metabolic process cytoplasm calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1) 43 ACATATAACTCTGTGTAATGC 0.343000 9 181 0 0 1 0 0 CDH6 1004 broad.mit.edu 37 5 31318006 31318006 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:31318006C>T ENST00000265071.2 + 11 2122 c.1857C>T c.(1855-1857)atC>atT p.I619I CDH6_ENST00000514738.1_Silent_p.I564I NM_004932.3 NP_004923.1 P55285 CADH6_HUMAN cadherin 6, type 2, K-cadherin (fetal kidney) 619 adherens junction organization|cell junction assembly|homophilic cell adhesion cytoplasm|integral to membrane|nucleus|plasma membrane calcium ion binding NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 77 TGGTTGCCATCCTTCTGTGCA 0.567000 51 77 0 0 1 0 0 C8orf4 56892 broad.mit.edu 37 8 40011065 40011065 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:40011065G>A ENST00000315792.3 + 1 77 c.14G>A c.(13-15)cGa>cAa p.R5Q NM_020130.4 NP_064515.1 Q9NR00 CH004_HUMAN chromosome 8 open reading frame 4 5 apoptosis breast(1)|large_intestine(1)|ovary(1) 3 Ovarian(28;0.0173) all_cancers(7;5.34e-21)|all_epithelial(6;1.04e-14)|Lung NSC(58;9.35e-06)|all_lung(54;1.39e-05)|Hepatocellular(245;0.00745)|Breast(189;0.0334)|Colorectal(162;0.0815)|Myeloproliferative disorder(644;0.116)|Esophageal squamous(32;0.141) LUSC - Lung squamous cell carcinoma(45;0.000149) KIRC - Kidney renal clear cell carcinoma(67;0.0923)|Kidney(114;0.111) AAAGCAAAGCGAAGCCACCAA 0.517000 21 61 0 0 1 0 0 ANGPT4 51378 broad.mit.edu 37 20 853729 853729 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr20:853729G>A ENST00000381922.3 - 9 1488 c.1386C>T c.(1384-1386)ctC>ctT p.L462L ANGPT4_ENST00000546022.1_3'UTR NM_015985.2 NP_057069.1 Q9Y264 ANGP4_HUMAN angiopoietin 4 462 Fibrinogen C-terminal. anti-apoptosis|blood coagulation|cellular response to hypoxia|leukocyte migration|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of peptidyl-tyrosine phosphorylation|signal transduction extracellular space receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1) 27 AGACGCCGTTGAGGTTTGACA 0.622000 33 61 0 0 1 0 0 FBXO39 162517 broad.mit.edu 37 17 6683288 6683288 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:6683288G>A ENST00000321535.4 + 2 231 c.101G>A c.(100-102)aGg>aAg p.R34K NM_153230.2 NP_694962.1 Q8N4B4 FBX39_HUMAN F-box protein 39 34 F-box. NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 26 CTAGGAGACAGGGACAGGTCC 0.547000 23 58 0 0 1 0 0 GSDMD 79792 broad.mit.edu 37 8 144641627 144641627 + Missense_Mutation SNP T T A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:144641627T>A ENST00000526406.1 + 5 1005 c.122T>A c.(121-123)gTt>gAt p.V41D GSDMD_ENST00000533063.1_Missense_Mutation_p.V89D|GSDMD_ENST00000262580.4_Missense_Mutation_p.V41D NM_001166237.1 NP_001159709.1 P57764 GSDMD_HUMAN gasdermin D 41 breast(1)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 12 TGCCTGGTGGTTAGGAAGCCC 0.587000 59 91 0 0 1 0 0 ABCB1 5243 broad.mit.edu 37 7 87179871 87179871 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:87179871C>T ENST00000265724.3 - 12 1554 c.1137G>A c.(1135-1137)tcG>tcA p.S379S ABCB1_ENST00000543898.1_Silent_p.S315S NM_000927.4 NP_000918.2 P08183 MDR1_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 1 379 G2/M transition of mitotic cell cycle|stem cell proliferation apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction ATP binding|protein binding|xenobiotic-transporting ATPase activity NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1) 111 Esophageal squamous(14;0.00164) Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570) GCCCACTCTTCGAATAGCTGT 0.333000 47 160 0 0 1 0 0 FAM73B 84895 broad.mit.edu 37 9 131804779 131804779 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:131804779C>T ENST00000277475.5 + 3 479 c.293C>T c.(292-294)cCt>cTt p.P98L FAM73B_ENST00000358369.4_Missense_Mutation_p.P98L|FAM73B_ENST00000474534.1_3'UTR|FAM73B_ENST00000406926.2_Missense_Mutation_p.P98L Q7L4E1 FA73B_HUMAN family with sequence similarity 73, member B 98 integral to membrane breast(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(1) 13 AGGAAGGTCCCTTCAGTGAAG 0.597000 5 14 0 0 1 0 0 DGKK 139189 broad.mit.edu 37 X 50213519 50213519 + RNA SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chrX:50213519G>A ENST00000376025.2 - 0 218 Q5KSL6 DGKK_HUMAN diacylglycerol kinase, kappa activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress cytoplasm|plasma membrane ATP binding|diacylglycerol kinase activity|metal ion binding central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 Ovarian(276;0.236) GCTCTGGTATGGGTTCTGGCG 0.677000 37 20 0 0 1 0 0 RHBDD2 57414 broad.mit.edu 37 7 75511503 75511503 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:75511503C>T ENST00000318622.4 + 3 741 c.112C>T c.(112-114)Ccc>Tcc p.P38S RHBDD2_ENST00000006777.6_Missense_Mutation_p.P179S|RHBDD2_ENST00000468304.1_Intron|RHBDD2_ENST00000428119.1_Missense_Mutation_p.P38S NM_001040457.1 NP_001035547.1 Q6NTF9 RHBD2_HUMAN rhomboid domain containing 2 179 integral to membrane serine-type endopeptidase activity kidney(1)|lung(4)|prostate(1) 6 GTGGCTCATTCCCCAGACCTC 0.587000 19 85 0 0 1 0 0 STAB2 55576 broad.mit.edu 37 12 103984801 103984801 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:103984801G>A ENST00000388887.2 + 2 412 c.208G>A c.(208-210)Gat>Aat p.D70N NM_017564.9 NP_060034.9 Q8WWQ8 STAB2_HUMAN stabilin 2 70 angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis cytoplasm|external side of plasma membrane|integral to plasma membrane Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2) 174 AGGGGTTCGAGATTGCAGGTA 0.458000 51 94 0 0 1 0 0 RPLP0P2 113157 broad.mit.edu 37 11 61405065 61405065 + RNA SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:61405065C>T ENST00000496593.1 + 0 1669 NR_002775.2 AAGGAAGAGTCGGAGGGAGGA 0.522000 4 67 0 0 1 0 0 KIAA1841 84542 broad.mit.edu 37 2 61297561 61297561 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:61297561C>T ENST00000402291.1 + 3 317 c.76C>T c.(76-78)Cca>Tca p.P26S KIAA1841_ENST00000453873.1_Missense_Mutation_p.P26S|KIAA1841_ENST00000356719.2_Missense_Mutation_p.P26S|KIAA1841_ENST00000295031.5_Missense_Mutation_p.P26S|KIAA1841_ENST00000482513.1_3'UTR NM_001129993.1 NP_001123465.1 Q6NSI8 K1841_HUMAN KIAA1841 26 breast(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1) 25 Epithelial(17;0.193) GATCCTTTATCCATTAATTGG 0.393000 53 93 0 0 1 0 0 CCDC30 728621 broad.mit.edu 37 1 43102995 43102995 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:43102995G>A ENST00000428554.2 + 18 2727 c.1584G>A c.(1582-1584)aaG>aaA p.K528K CCDC30_ENST00000390640.4_Silent_p.K317K|CCDC30_ENST00000507855.1_Silent_p.K317K|CCDC30_ENST00000340612.4_Silent_p.K528K|CCDC30_ENST00000342022.4_Silent_p.K528K Q5VVM6 CCD30_HUMAN coiled-coil domain containing 30 528 endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2) 30 TACGAGATAAGAGAATTAACC 0.318000 32 43 0 0 1 0 0 CTAGE1 64693 broad.mit.edu 37 18 19996108 19996108 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr18:19996108C>T ENST00000391403.2 - 1 1770 c.1667G>A c.(1666-1668)aGg>aAg p.R556K NM_172241.2 NP_758441.2 Q96RT6 CTGE2_HUMAN cutaneous T-cell lymphoma-associated antigen 1 556 integral to membrane cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(19)|ovary(1) 27 all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135) AGAAGGAGCCCTGTGAGGATC 0.537000 51 94 0 0 1 0 0 ZNF827 152485 broad.mit.edu 37 4 146807037 146807037 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:146807037C>T ENST00000508784.1 - 4 1767 c.1540G>A c.(1540-1542)Ggg>Agg p.G514R ZNF827_ENST00000379448.4_Missense_Mutation_p.G514R|ZNF827_ENST00000513320.1_Missense_Mutation_p.G164R Q17R98 ZN827_HUMAN zinc finger protein 827 514 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 48 all_hematologic(180;0.151) ACGCCAGCCCCTCCCTGGCTA 0.597000 46 79 0 0 1 0 0 KIAA1324L 222223 broad.mit.edu 37 7 86544109 86544109 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:86544109G>A ENST00000450689.2 - 13 1846 c.1661C>T c.(1660-1662)aCc>aTc p.T554I KIAA1324L_ENST00000297222.6_Missense_Mutation_p.T314I|KIAA1324L_ENST00000444627.1_Missense_Mutation_p.T554I|KIAA1324L_ENST00000490995.1_5'UTR|KIAA1324L_ENST00000416314.1_Missense_Mutation_p.T387I NM_001142749.2 NP_001136221.1 A8MWY0 K132L_HUMAN KIAA1324-like 554 integral to membrane p.T314N(1) breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(14)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 44 Esophageal squamous(14;0.0058) GATGATATGGGTGTAAGCTTG 0.318000 12 104 0 0 1 0 0 BCAM 4059 broad.mit.edu 37 19 45317898 45317898 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:45317898G>A ENST00000391955.1 + 8 1003 c.959G>A c.(958-960)gGg>gAg p.G320E BCAM_ENST00000270233.6_Missense_Mutation_p.G320E P50895 BCAM_HUMAN basal cell adhesion molecule (Lutheran blood group) 320 Ig-like C2-type 1. cell-matrix adhesion integral to plasma membrane laminin binding|laminin receptor activity central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 22 Lung NSC(12;0.000789)|all_lung(12;0.00218) Ovarian(192;0.0728)|all_neural(266;0.112) AATCTCGAGGGGAACTTGACC 0.622000 29 72 0 0 1 0 0 SPOCD1 90853 broad.mit.edu 37 1 32267306 32267306 + Splice_Site SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:32267306C>T ENST00000360482.2 - 3 1513 c.1383_splice c.e3-1 p.E462_splice SPOCD1_ENST00000533231.1_Splice_Site_p.E462_splice|SPOCD1_ENST00000257100.3_5'UTR|SPOCD1_ENST00000373648.2_Splice_Site_p.E462_splice NM_144569.4 NP_653170.3 Q6ZMY3 SPOC1_HUMAN SPOC domain containing 1 462 transcription, DNA-dependent NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(1)|lung(7)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2) 37 Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199) STAD - Stomach adenocarcinoma(196;0.18) TTCACTTCCTCCTTGGAGAGA 0.453000 32 121 0 0 1 0 0 FBN3 84467 broad.mit.edu 37 19 8156470 8156470 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:8156470G>A ENST00000600128.1 - 48 6324 c.5910C>T c.(5908-5910)atC>atT p.I1970I FBN3_ENST00000601739.1_Silent_p.I1970I|FBN3_ENST00000270509.2_Silent_p.I1970I Q75N90 FBN3_HUMAN fibrillin 3 1970 EGF-like 32; calcium-binding. proteinaceous extracellular matrix calcium ion binding|extracellular matrix structural constituent p.I1970I(2) NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 132 AGCACTCGTCGATATCTGGAA 0.602000 25 78 0 0 1 0 0 PLXNA4 91584 broad.mit.edu 37 7 131817832 131817832 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:131817832G>A ENST00000359827.3 - 31 6527 c.5565C>T c.(5563-5565)tcC>tcT p.S1855S PLXNA4_ENST00000321063.4_Silent_p.S1855S Q9HCM2 PLXA4_HUMAN plexin A4 1855 integral to membrane|intracellular|plasma membrane NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1) 45 TGCCCACATAGGAGAAGATCT 0.532000 35 171 0 0 1 0 0 SNX7 51375 broad.mit.edu 37 1 99161130 99161130 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:99161130C>T ENST00000370189.5 + 6 868 c.504C>T c.(502-504)acC>acT p.T168T SNX7_ENST00000306121.3_Silent_p.T232T|SNX7_ENST00000529992.1_Silent_p.T177T Q9UNH6 SNX7_HUMAN sorting nexin 7 168 cell communication|protein transport cytoplasmic vesicle membrane phosphatidylinositol binding|protein binding endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2) 13 all_epithelial(167;7.64e-07)|all_lung(203;0.0006)|Lung NSC(277;0.00137) Epithelial(280;0.0521)|all cancers(265;0.0687)|COAD - Colon adenocarcinoma(174;0.15)|Lung(183;0.207)|Colorectal(170;0.234) TGGGGCAAACCGTCAGAGCTG 0.403000 49 68 0 0 1 0 0 RNF217 154214 broad.mit.edu 37 6 125379111 125379111 + Silent SNP C C T rs140177984 TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:125379111C>T ENST00000521654.2 + 3 1140 c.1140C>T c.(1138-1140)ttC>ttT p.F380F RNF217_ENST00000368414.2_5'UTR|RNF217_ENST00000560949.1_Silent_p.F145F|RNF217_ENST00000359704.2_Silent_p.F88F|RNF217_ENST00000275184.6_Silent_p.F24F Q8TC41 RN217_HUMAN ring finger protein 217 88 protein ubiquitination involved in ubiquitin-dependent protein catabolic process integral to membrane ubiquitin-protein ligase activity|zinc ion binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(1) 11 LUSC - Lung squamous cell carcinoma(4;0.0263)|Lung(4;0.0828) GBM - Glioblastoma multiforme(226;0.0162) CCTGCCAATTCGTCTGGTGTT 0.413000 84 31 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179597446 179597446 + Splice_Site SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:179597446C>T ENST00000589042.1 - 56 16567 c.e56-1 TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Splice_Site|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Splice_Site|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) CTGGGTGGTTCTGAAGAAGGG 0.398000 10 26 0 0 1 0 0 OR10G7 390265 broad.mit.edu 37 11 123909592 123909592 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:123909592C>T ENST00000330487.5 - 1 125 c.117G>A c.(115-117)ggG>ggA p.G39G NM_001004463.1 NP_001004463.1 Q8NGN6 O10G7_HUMAN olfactory receptor, family 10, subfamily G, member 7 39 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(6)|lung(20)|ovary(2)|prostate(2)|stomach(3)|urinary_tract(1) 47 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521) TGAGGAGGTTCCCCAGCACAG 0.567000 51 81 0 0 1 0 0 RXFP1 59350 broad.mit.edu 37 4 159568278 159568278 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:159568278G>A ENST00000307765.5 + 16 1932 c.1681G>A c.(1681-1683)Gga>Aga p.G561R RXFP1_ENST00000343542.5_Missense_Mutation_p.G513R|RXFP1_ENST00000448688.2_Missense_Mutation_p.G456R|RXFP1_ENST00000470033.1_Missense_Mutation_p.G528R|RXFP1_ENST00000460056.2_Missense_Mutation_p.G480R NM_001253727.1|NM_001253728.1|NM_001253730.1|NM_001253732.1|NM_001253733.1|NM_021634.3 NP_001240656.1|NP_001240657.1|NP_001240659.1|NP_001240661.1|NP_001240662.1|NP_067647.2 Q9HBX9 RXFP1_HUMAN relaxin/insulin-like family peptide receptor 1 561 integral to membrane|plasma membrane G-protein coupled receptor activity|metal ion binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|liver(2)|lung(22)|prostate(1)|skin(10) 49 all_hematologic(180;0.24) Renal(120;0.0854) COAD - Colon adenocarcinoma(41;0.0219) TGGCACCAATGGAGTATGCTT 0.343000 34 68 0 0 1 0 0 C3 718 broad.mit.edu 37 19 6686763 6686763 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:6686763C>T ENST00000245907.6 - 28 3732 c.3640G>A c.(3640-3642)Gcc>Acc p.A1214T NM_000064.2 NP_000055.2 P01024 CO3_HUMAN complement component 3 1214 complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production extracellular space endopeptidase inhibitor activity|receptor binding breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3) 72 GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661) TCACCTTTGGCTGTGGTCAGA 0.552000 98 249 0 0 1 0 0 ADD2 119 broad.mit.edu 37 2 70933485 70933485 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:70933485G>A ENST00000264436.3 - 3 500 c.56C>T c.(55-57)cCt>cTt p.P19L ADD2_ENST00000430656.1_Missense_Mutation_p.P35L|ADD2_ENST00000355733.3_Missense_Mutation_p.P19L|ADD2_ENST00000413157.2_Missense_Mutation_p.P19L|ADD2_ENST00000407644.2_Missense_Mutation_p.P19L NM_001617.3 NP_001608.1 P35612 ADDB_HUMAN adducin 2 (beta) 19 actin filament bundle assembly|barbed-end actin filament capping|positive regulation of protein binding cytoplasm|F-actin capping protein complex|plasma membrane actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2) 36 GTCAAAGTAAGGCTGCCCCTG 0.627000 54 102 0 0 1 0 0 IVL 3713 broad.mit.edu 37 1 152882738 152882738 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:152882738C>T ENST00000368764.3 + 2 529 c.465C>T c.(463-465)ctC>ctT p.L155L IVL_ENST00000392667.2_Silent_p.L9L P07476 INVO_HUMAN involucrin 155 39 X 10 AA approximate tandem repeats of [LP]-[EKG]-[LHVYQEK]-[PLSQE]-[EQDV]- [QHEKRGA]-Q-[EMVQLP]-[GKLE]-[QHVNLD]. isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine|keratinization|response to UV-B cornified envelope|cytoplasm protein binding, bridging|structural molecule activity breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1) 29 Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.171) TGTTGGAGCTCCCAGagcagc 0.567000 6 78 0 0 1 0 0 NRG1 3084 broad.mit.edu 37 8 32505316 32505316 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:32505316C>T ENST00000520502.2 + 1 80 c.80C>T c.(79-81)cCa>cTa p.P27L NRG1_ENST00000341377.5_Intron|NRG1_ENST00000521670.1_Intron|NRG1_ENST00000338921.4_Intron|NRG1_ENST00000519301.1_Intron|NRG1_ENST00000523079.1_Intron|NRG1_ENST00000356819.4_Intron|NRG1_ENST00000287842.3_Intron|NRG1_ENST00000287845.5_Intron|NRG1_ENST00000405005.2_Intron|NRG1_ENST00000520407.1_Intron|NRG1_ENST00000287840.5_Intron NM_013959.3 NP_039253.1 Q02297 NRG1_HUMAN neuregulin 1 0 activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|Notch signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane cytokine activity|ErbB-3 class receptor binding|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1) 39 Breast(100;0.203) KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943) AGTGCAGACCCATCTCTTGAT 0.617000 26 59 0 0 1 0 0 GDPD5 81544 broad.mit.edu 37 11 75153601 75153601 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:75153601G>A ENST00000526177.1 - 8 2438 c.560C>T c.(559-561)tCc>tTc p.S187F GDPD5_ENST00000376282.3_Missense_Mutation_p.S206F|GDPD5_ENST00000443276.2_3'UTR|GDPD5_ENST00000529721.1_Missense_Mutation_p.S325F|GDPD5_ENST00000533784.1_Missense_Mutation_p.S206F|GDPD5_ENST00000336898.3_Missense_Mutation_p.S325F|GDPD5_ENST00000533805.1_Missense_Mutation_p.S80F Q8WTR4 GDPD5_HUMAN glycerophosphodiester phosphodiesterase domain containing 5 325 glycerol metabolic process|lipid metabolic process|nervous system development endomembrane system|growth cone|integral to membrane|perinuclear region of cytoplasm glycerophosphodiester phosphodiesterase activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|skin(2) 20 GGGTGACAGGGAGCTGGCTGT 0.622000 24 40 0 0 1 0 0 ADH1B 125 broad.mit.edu 37 4 100239323 100239323 + Missense_Mutation SNP A A C TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:100239323A>C ENST00000305046.8 - 3 206 c.139T>G c.(139-141)Tgt>Ggt p.C47G ADH1B_ENST00000394887.3_Missense_Mutation_p.C7G|ADH1B_ENST00000504498.1_5'UTR P00325 ADH1B_HUMAN alcohol dehydrogenase 1B (class I), beta polypeptide 47 ethanol oxidation|xenobiotic metabolic process cytosol alcohol dehydrogenase activity, zinc-dependent|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1) 33 OV - Ovarian serous cystadenocarcinoma(123;1.02e-07) Fomepizole(DB01213)|NADH(DB00157) TCTGTGTGACAGATTCCTACA 0.458000 29 157 0 0 1 0 0 CFB 629 broad.mit.edu 37 6 31914272 31914272 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:31914272C>T ENST00000456570.1 + 14 1748 c.1693C>T c.(1693-1695)Cct>Tct p.P565S CFB_ENST00000425368.2_Missense_Mutation_p.P63S|CFB_ENST00000477310.1_Intron|CFB_ENST00000556679.1_Missense_Mutation_p.P565S P00751 CFAB_HUMAN complement factor B 63 Peptidase S1. K -> E (in dbSNP:rs4151659). complement activation, alternative pathway|proteolysis extracellular region|plasma membrane complement binding|serine-type endopeptidase activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1) 21 GTACGTGTGTCCTTCTGGCTT 0.592000 45 97 0 0 1 0 0 PTGER2 5732 broad.mit.edu 37 14 52781602 52781602 + Silent SNP C C T rs151002714 TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr14:52781602C>T ENST00000245457.5 + 1 490 c.336C>T c.(334-336)ttC>ttT p.F112F PTGER2_ENST00000557436.1_Intron NM_000956.3 NP_000947.2 P43116 PE2R2_HUMAN prostaglandin E receptor 2 (subtype EP2), 53kDa 112 integral to plasma membrane prostaglandin E receptor activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 15 Breast(41;0.0639)|all_epithelial(31;0.0729) Alprostadil(DB00770)|Iloprost(DB01088) GCACCTACTTCGCTTTCGCCA 0.642000 5 114 0 0 1 0 0 GRM3 2913 broad.mit.edu 37 7 86416119 86416119 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:86416119C>T ENST00000361669.2 + 3 2110 c.1011C>T c.(1009-1011)ttC>ttT p.F337F GRM3_ENST00000546348.1_Intron|GRM3_ENST00000536043.1_Silent_p.F209F|GRM3_ENST00000394720.2_Silent_p.F335F|GRM3_ENST00000439827.1_Silent_p.F337F NM_000840.2 NP_000831.2 Q14832 GRM3_HUMAN glutamate receptor, metabotropic 3 337 synaptic transmission integral to plasma membrane NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5) 109 Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142) Acamprosate(DB00659)|Nicotine(DB00184) ACCGCTACTTCCAGAGCCTCA 0.617000 24 69 0 0 1 0 0 SLC22A11 55867 broad.mit.edu 37 11 64338471 64338471 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:64338471G>A ENST00000301891.4 + 10 1984 c.1610G>A c.(1609-1611)gGc>gAc p.G537D SLC22A11_ENST00000377585.3_Missense_Mutation_p.G429D|SLC22A11_ENST00000377581.3_Missense_Mutation_p.G468D NM_018484.2 NP_060954.1 Q9NSA0 S22AB_HUMAN solute carrier family 22 (organic anion/urate transporter), member 11 537 urate metabolic process apical plasma membrane|external side of plasma membrane|integral to plasma membrane inorganic anion exchanger activity|protein binding|sodium-independent organic anion transmembrane transporter activity breast(1)|central_nervous_system(3)|endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 23 Probenecid(DB01032) GCAGCCCAGGGCAACCGGCAA 0.512000 43 102 0 0 1 0 0 BRD2 6046 broad.mit.edu 37 6 32940702 32940702 + Silent SNP T T C TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:32940702T>C ENST00000395289.2 + 2 1628 c.27T>C c.(25-27)aaT>aaC p.N9N BRD2_ENST00000374825.4_Silent_p.N9N|BRD2_ENST00000374831.4_Silent_p.N9N|BRD2_ENST00000443797.2_5'UTR|BRD2_ENST00000395287.1_Silent_p.N9N P25440 BRD2_HUMAN bromodomain containing 2 9 spermatogenesis nucleus protein serine/threonine kinase activity central_nervous_system(3)|stomach(2) 5 CTCCCCACAATAAGTACGTTT 0.682000 8 221 0 0 1 0 0 ASIC5 51802 broad.mit.edu 37 4 156764854 156764854 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:156764854C>T ENST00000537611.2 - 5 886 c.840G>A c.(838-840)agG>agA p.R280R NM_017419.2 NP_059115.1 Q9NY37 ACCN5_HUMAN acid-sensing (proton-gated) ion channel family member 5 280 integral to membrane|plasma membrane GGATGGTTACCCTTGCGTGCA 0.438000 4 71 0 0 1 0 0 MAPT 4137 broad.mit.edu 37 17 44096032 44096032 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:44096032G>A ENST00000344290.5 + 14 2373 c.2051G>A c.(2050-2052)aGa>aAa p.R684K MAPT_ENST00000340799.5_Missense_Mutation_p.R320K|MAPT_ENST00000446361.3_Missense_Mutation_p.R291K|MAPT_ENST00000571987.1_Missense_Mutation_p.R666K|MAPT_ENST00000262410.5_Missense_Mutation_p.R666K|MAPT_ENST00000535772.1_Missense_Mutation_p.R318K|MAPT_ENST00000574436.1_Missense_Mutation_p.R349K|MAPT_ENST00000570299.1_3'UTR|MAPT_ENST00000334239.8_Missense_Mutation_p.R260K|MAPT_ENST00000415613.2_Missense_Mutation_p.R684K|MAPT_ENST00000431008.3_Missense_Mutation_p.R318K|MAPT_ENST00000576518.1_Missense_Mutation_p.R249K|MAPT_ENST00000420682.2_Missense_Mutation_p.R320K|MAPT_ENST00000347967.5_Missense_Mutation_p.R224K|MAPT_ENST00000351559.5_Missense_Mutation_p.R349K NM_001123066.3 NP_001116538.2 P10636 TAU_HUMAN microtubule-associated protein tau 666 cellular component disassembly involved in apoptosis|microtubule cytoskeleton organization|negative regulation of microtubule depolymerization|positive regulation of axon extension|positive regulation of microtubule polymerization|regulation of autophagy axon|cytosol|growth cone|microtubule|microtubule associated complex|nuclear periphery|plasma membrane|tubulin complex apolipoprotein E binding|enzyme binding|identical protein binding|lipoprotein particle binding|microtubule binding|protein binding|SH3 domain binding|structural constituent of cytoskeleton breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 38 Melanoma(429;0.216) TTCAAGGACAGAGTCCAGTCG 0.507000 77 168 0 0 1 0 0 NCKAP5 344148 broad.mit.edu 37 2 133489561 133489561 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:133489561C>T ENST00000409261.1 - 17 5565 c.5192G>A c.(5191-5193)gGa>gAa p.G1731E NCKAP5_ENST00000473859.1_5'UTR|NCKAP5_ENST00000409213.1_Missense_Mutation_p.G412E|NCKAP5_ENST00000405974.3_Missense_Mutation_p.G412E|NCKAP5_ENST00000317721.6_Missense_Mutation_p.G1731E NM_207363.2 NP_997246.2 O14513 NCKP5_HUMAN NCK-associated protein 5 1731 protein binding NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 118 CGAGCGATTTCCCGAGTCTGG 0.537000 15 18 0 0 1 0 0 PLCB2 5330 broad.mit.edu 37 15 40584645 40584645 + Splice_Site SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr15:40584645C>T ENST00000260402.3 - 22 2576 c.e22-1 PLCB2_ENST00000557821.1_Splice_Site|PLCB2_ENST00000456256.2_Splice_Site NM_004573.2 NP_004564.2 Q00722 PLCB2_HUMAN phospholipase C, beta 2 activation of phospholipase C activity|intracellular signal transduction|lipid catabolic process|phospholipid metabolic process|synaptic transmission cytosol calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(3) 39 all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117) GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508) TGGTGGTACCCTGTGAGACAG 0.587000 27 34 0 0 1 0 0 NTM 50863 broad.mit.edu 37 11 132180089 132180089 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:132180089C>T ENST00000374786.1 + 5 1224 c.745C>T c.(745-747)Ccc>Tcc p.P249S NTM_ENST00000427481.2_Missense_Mutation_p.P240S|NTM_ENST00000539799.1_Missense_Mutation_p.P249S|NTM_ENST00000374784.1_Missense_Mutation_p.P249S|NTM_ENST00000474900.1_3'UTR|NTM_ENST00000374791.3_Missense_Mutation_p.P249S|NTM_ENST00000425719.2_Missense_Mutation_p.P249S NM_001144058.1|NM_016522.2 NP_001137530.1|NP_057606.1 Q9P121 NTRI_HUMAN neurotrimin 249 Ig-like C2-type 3. cell adhesion|neuron recognition anchored to membrane|plasma membrane breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(30)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 56 CTCAGCAGTCCCCTCAGCAGA 0.502000 58 77 0 0 1 0 0 PARP4 143 broad.mit.edu 37 13 25009347 25009347 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr13:25009347G>A ENST00000381989.3 - 31 4037 c.3932C>T c.(3931-3933)tCt>tTt p.S1311F NM_006437.3 NP_006428.2 Q9UKK3 PARP4_HUMAN poly (ADP-ribose) polymerase family, member 4 1311 cell death|DNA repair|inflammatory response|protein ADP-ribosylation|response to drug|transport cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule DNA binding|enzyme binding|NAD+ ADP-ribosyltransferase activity autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 63 all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052) all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195) GCTAGAAGTAGATGTTTCCCA 0.463000 47 74 0 0 1 0 0 RP1 6101 broad.mit.edu 37 8 55542352 55542352 + Silent SNP G G A rs67738115 TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:55542352G>A ENST00000220676.1 + 4 6058 c.5910G>A c.(5908-5910)gaG>gaA p.E1970E NM_006269.1 NP_006260.1 P56715 RP1_HUMAN retinitis pigmentosa 1 (autosomal dominant) 1970 axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment microtubule binding NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2) 169 all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123) OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285) TCAGGGAAGAGAACAATAAAG 0.299000 33 64 0 0 1 0 0 SWI5 375757 broad.mit.edu 37 9 131038521 131038521 + Missense_Mutation SNP T T C TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:131038521T>C ENST00000320188.4 + 1 97 c.97T>C c.(97-99)Ttt>Ctt p.F33L NM_001040011.1 NP_001035100.1 Q1ZZU3 SWI5_HUMAN SWI5 recombination repair homolog (yeast) 33 double-strand break repair via homologous recombination Swi5-Sfr1 complex protein binding CGGGGCCGGCTTTCCTTGGGT 0.687000 27 42 0 0 1 0 0 COL5A3 50509 broad.mit.edu 37 19 10071405 10071405 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:10071405G>A ENST00000264828.3 - 66 5098 c.5013C>T c.(5011-5013)ttC>ttT p.F1671F NM_015719.3 NP_056534.2 P25940 CO5A3_HUMAN collagen, type V, alpha 3 1671 Fibrillar collagen NC1. collagen fibril organization|skin development collagen type V collagen binding|extracellular matrix structural constituent NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 116 Epithelial(33;7.11e-05) TGGTGCCAAGGAAGCGGGCGG 0.627000 5 112 0 0 1 0 0 CACNA1C 775 broad.mit.edu 37 12 2656677 2656677 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:2656677C>T ENST00000335762.5 + 10 1717 c.1452C>T c.(1450-1452)tcC>tcT p.S484S CACNA1C_ENST00000399644.1_Intron|CACNA1C_ENST00000399638.1_Intron|CACNA1C_ENST00000399655.1_Intron|CACNA1C_ENST00000406454.3_Intron|CACNA1C_ENST00000399621.1_Intron|CACNA1C_ENST00000480911.1_Intron|CACNA1C_ENST00000399601.1_Intron|CACNA1C_ENST00000399641.1_Intron|CACNA1C_ENST00000399591.1_Intron|CACNA1C_ENST00000399603.1_Intron|CACNA1C_ENST00000327702.7_Intron|CACNA1C_ENST00000399629.1_Intron|CACNA1C_ENST00000399637.1_Intron|CACNA1C_ENST00000344100.3_Intron|CACNA1C_ENST00000399597.1_Intron|CACNA1C_ENST00000399617.1_Intron|CACNA1C_ENST00000402845.3_Intron|CACNA1C_ENST00000399649.1_Intron|CACNA1C_ENST00000491104.1_Intron|CACNA1C_ENST00000399595.1_Intron|CACNA1C_ENST00000399634.1_Intron|CACNA1C_ENST00000347598.4_Intron|CACNA1C_ENST00000399606.1_Intron Q13936 CAC1C_HUMAN calcium channel, voltage-dependent, L type, alpha 1C subunit 463 axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion cytoplasm|postsynaptic density|voltage-gated calcium channel complex calmodulin binding|voltage-gated calcium channel activity NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4) 132 OV - Ovarian serous cystadenocarcinoma(31;0.00256) LUAD - Lung adenocarcinoma(1;0.134) Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661) TTAGTCACTCCACAGAAACCC 0.502000 17 36 0 0 1 0 0 TFAP2D 83741 broad.mit.edu 37 6 50683114 50683114 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:50683114G>A ENST00000008391.3 + 2 553 c.325G>A c.(325-327)Gag>Aag p.E109K NM_172238.3 NP_758438.2 Q7Z6R9 AP2D_HUMAN transcription factor AP-2 delta (activating enhancer binding protein 2 delta) 109 DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(26)|ovary(6)|pancreas(1)|prostate(5)|stomach(1) 60 Lung NSC(77;0.0334) CCACCACGGGGAGCCCACCGA 0.627000 43 145 0 0 1 0 0 PGLYRP3 114771 broad.mit.edu 37 1 153275022 153275022 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:153275022C>T ENST00000290722.1 - 5 643 c.591G>A c.(589-591)atG>atA p.M197I NM_052891.1 NP_443123.1 Q96LB9 PGRP3_HUMAN peptidoglycan recognition protein 3 197 defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process extracellular region|intracellular|membrane N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(1)|liver(1)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1) 28 all_lung(78;3.35e-32)|Lung NSC(65;1.22e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.171) CTGGGAGGTTCATTTTAGGGC 0.468000 69 95 0 0 1 0 0 SKP2 6502 broad.mit.edu 37 5 36168466 36168466 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:36168466C>T ENST00000274255.6 + 5 784 c.588C>T c.(586-588)tcC>tcT p.S196S SKP2_ENST00000274254.5_Silent_p.S196S|SKP2_ENST00000508514.1_Intron|SKP2_ENST00000546211.1_Intron NM_005983.3 NP_005974.2 Q13309 SKP2_HUMAN S-phase kinase-associated protein 2, E3 ubiquitin protein ligase 196 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|G1/S transition of mitotic cell cycle|S phase of mitotic cell cycle nucleoplasm|SCF ubiquitin ligase complex protein binding breast(1)|central_nervous_system(2)|ovary(1) 4 all_lung(31;5.63e-05) Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) TAGAAGTGTCCACCCTCCACG 0.517000 124 365 0 0 1 0 0 LRRC30 339291 broad.mit.edu 37 18 7232003 7232003 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr18:7232003G>A ENST00000383467.2 + 1 881 c.867G>A c.(865-867)gaG>gaA p.E289E NM_001105581.1 NP_001099051.1 A6NM36 LRC30_HUMAN leucine rich repeat containing 30 289 central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(1)|skin(3) 31 GGGGCCTGGAGATGCTCTTCG 0.587000 203 213 0 0 1 0 0 CHAT 1103 broad.mit.edu 37 10 50870784 50870784 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:50870784G>A ENST00000395562.2 + 15 2156 c.1687G>A c.(1687-1689)Gaa>Aaa p.E563K CHAT_ENST00000395559.2_Missense_Mutation_p.E527K|CHAT_ENST00000455728.2_Missense_Mutation_p.E527K|CHAT_ENST00000351556.3_Missense_Mutation_p.E527K|CHAT_ENST00000339797.1_Missense_Mutation_p.E527K|CHAT_ENST00000337653.2_Missense_Mutation_p.E645K NM_001142933.1|NM_001142934.1 NP_001136405.1|NP_001136406.1 P28329 CLAT_HUMAN choline O-acetyltransferase 645 neurotransmitter biosynthetic process|neurotransmitter secretion cytosol|nucleus choline O-acetyltransferase activity central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1) 56 all_neural(218;0.107) GBM - Glioblastoma multiforme(2;0.000585) Choline(DB00122) GTTCATGGATGAAACCTACCT 0.562000 53 154 0 0 1 0 0 RTL1 388015 broad.mit.edu 37 14 101349291 101349291 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr14:101349291G>A ENST00000534062.1 - 1 1893 c.1835C>T c.(1834-1836)tCc>tTc p.S612F NM_001134888.2 NP_001128360.1 E9PKS8 E9PKS8_HUMAN retrotransposon-like 1 612 breast(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(5)|pancreas(1)|prostate(2)|skin(2) 21 AGGCGCGGTGGAGGGACACTC 0.562000 17 51 0 0 1 0 0 PI4KA 5297 broad.mit.edu 37 22 21161738 21161738 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr22:21161738G>A ENST00000255882.6 - 10 1166 c.1080C>T c.(1078-1080)ccC>ccT p.P360P PI4KA_ENST00000572273.1_Silent_p.P302P NM_058004.3 NP_477352.3 P42356 PI4KA_HUMAN phosphatidylinositol 4-kinase, catalytic, alpha 302 phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission Golgi-associated vesicle 1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 79 all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196) GATCAGCACTGGGGTTGGCCT 0.517000 21 33 0 0 1 0 0 KRT12 3859 broad.mit.edu 37 17 39021127 39021127 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:39021127C>T ENST00000251643.4 - 3 761 c.738G>A c.(736-738)agG>agA p.R246R NM_000223.3 NP_000214.1 Q99456 K1C12_HUMAN keratin 12 246 Coil 1B.|Rod. visual perception intermediate filament structural molecule activity central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(2) 15 Breast(137;0.000301) CCAGGTCGGTCCTGGTCAGGG 0.587000 52 120 0 0 1 0 0 CCBE1 147372 broad.mit.edu 37 18 57103256 57103256 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr18:57103256G>A ENST00000439986.4 - 11 1142 c.1105C>T c.(1105-1107)Cct>Tct p.P369S CCBE1_ENST00000398179.2_Missense_Mutation_p.P98S NM_133459.3 NP_597716.1 Q6UXH8 CCBE1_HUMAN collagen and calcium binding EGF domains 1 369 lymphangiogenesis|sprouting angiogenesis|venous blood vessel morphogenesis collagen calcium ion binding p.P369A(1) NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(3) 24 Colorectal(73;0.175) TGAGGTAAAGGGAACTCCTCT 0.537000 8 228 0 0 1 0 0 FAM117A 81558 broad.mit.edu 37 17 47797136 47797136 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:47797136C>T ENST00000240364.2 - 5 773 c.694G>A c.(694-696)Gag>Aag p.E232K RP11-613C6.2_ENST00000512720.1_RNA|FAM117A_ENST00000514018.1_5'UTR|FAM117A_ENST00000513602.1_5'UTR NM_030802.3 NP_110429.1 Q9C073 F117A_HUMAN family with sequence similarity 117, member A 232 haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 17 AGCAGCTCCTCTTCTCCCTGC 0.637000 92 170 0 0 1 0 0 WDR7 23335 broad.mit.edu 37 18 54385328 54385328 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr18:54385328C>T ENST00000254442.3 + 13 1923 c.1712C>T c.(1711-1713)tCt>tTt p.S571F WDR7_ENST00000357574.3_Missense_Mutation_p.S571F|WDR7_ENST00000589935.1_Intron NM_015285.2 NP_056100.2 Q9Y4E6 WDR7_HUMAN WD repeat domain 7 571 p.S571Y(1) NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3) 78 Lung(128;0.0238)|Colorectal(16;0.0296) TGGAGGCCTTCTGATGATTAC 0.398000 35 125 0 0 1 0 0 IGSF10 285313 broad.mit.edu 37 3 151163225 151163225 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:151163225G>A ENST00000282466.3 - 4 4543 c.4544C>T c.(4543-4545)cCa>cTa p.P1515L NM_001178145.1|NM_001178146.1|NM_178822.4 NP_001171616.1|NP_001171617.1|NP_849144.2 Q6WRI0 IGS10_HUMAN immunoglobulin superfamily, member 10 1515 cell differentiation|multicellular organismal development|ossification extracellular region NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3) 116 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) TAATTGCTGTGGTTTAGCATT 0.463000 61 107 0 0 1 0 0 KAT6B 23522 broad.mit.edu 37 10 76735578 76735578 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:76735578C>T ENST00000287239.4 + 8 1972 c.1483C>T c.(1483-1485)Cca>Tca p.P495S KAT6B_ENST00000372711.1_Intron|KAT6B_ENST00000372714.1_Intron|KAT6B_ENST00000372724.1_Intron|KAT6B_ENST00000372725.1_Intron NM_001256468.1|NM_012330.3 NP_001243397.1|NP_036462.2 Q8WYB5 MYST4_HUMAN K(lysine) acetyltransferase 6B 495 Negatively regulates HAT activity.|Ser-rich. histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent MOZ/MORF histone acetyltransferase complex|nucleosome DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding TTCTTCACTTCCACCCCCAAC 0.522000 49 85 0 0 1 0 0 COL11A1 1301 broad.mit.edu 37 1 103468000 103468000 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:103468000C>T ENST00000358392.2 - 23 2434 c.2117G>A c.(2116-2118)gGg>gAg p.G706E COL11A1_ENST00000353414.4_Missense_Mutation_p.G655E|COL11A1_ENST00000512756.1_Missense_Mutation_p.G578E|COL11A1_ENST00000370096.3_Missense_Mutation_p.G694E|COL11A1_ENST00000461720.1_5'UTR NM_080629.2 NP_542196.2 P12107 COBA1_HUMAN collagen, type XI, alpha 1 694 Triple-helical region. collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception collagen type XI extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1) 258 all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181) Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248) TCCTGGATTCCCTTGTTGACC 0.428000 4 14 0 0 1 0 0 NUTM2F 54754 broad.mit.edu 37 9 97082686 97082686 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:97082686G>A ENST00000335456.7 - 6 1147 c.1127C>T c.(1126-1128)cCc>cTc p.P376L NUTM2F_ENST00000341207.4_Missense_Mutation_p.P376L|NUTM2F_ENST00000253262.4_Missense_Mutation_p.P391L NUT family member 2F CACTTCAGGGGGGATCTCCTC 0.657000 45 98 0 0 1 0 0 C8B 732 broad.mit.edu 37 1 57399065 57399065 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:57399065C>T ENST00000543257.1 - 11 1905 c.1339G>A c.(1339-1341)Gaa>Aaa p.E447K C8B_ENST00000535057.1_Missense_Mutation_p.E437K|C8B_ENST00000371237.4_Missense_Mutation_p.E499K NM_001278543.1 NP_001265472.1 P07358 CO8B_HUMAN complement component 8, beta polypeptide 499 MACPF. complement activation, alternative pathway|complement activation, classical pathway|cytolysis membrane attack complex p.E499K(1) breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1) 52 GAACTAACTTCCTTCTGGAAC 0.527000 54 35 0 0 1 0 0 DACT1 51339 broad.mit.edu 37 14 59113574 59113574 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr14:59113574G>A ENST00000395153.3 + 4 2269 c.2122G>A c.(2122-2124)Gag>Aag p.E708K DACT1_ENST00000556859.1_Missense_Mutation_p.E464K|DACT1_ENST00000335867.4_Missense_Mutation_p.E745K|DACT1_ENST00000541264.2_Missense_Mutation_p.E464K|DACT1_ENST00000395151.3_Missense_Mutation_p.E464K NM_001079520.1|NM_016651.5 NP_001072988.1|NP_057735.2 Q9NYF0 DACT1_HUMAN dishevelled-binding antagonist of beta-catenin 1 745 multicellular organismal development|Wnt receptor signaling pathway cytoplasm|nucleus endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1) 53 CAGTGAGGACGAGCAGAGCAA 0.627000 48 107 0 0 1 0 0 TJP3 27134 broad.mit.edu 37 19 3728607 3728607 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:3728607C>T ENST00000541714.2 + 3 516 c.54C>T c.(52-54)ccC>ccT p.P18P TJP3_ENST00000589378.1_Silent_p.P27P|TJP3_ENST00000587686.1_Silent_p.P37P|TJP3_ENST00000539908.2_5'UTR|TJP3_ENST00000262968.9_Silent_p.P37P|TJP3_ENST00000382008.3_Silent_p.P18P NM_001267560.1 NP_001254489.1 O95049 ZO3_HUMAN tight junction protein 3 18 PDZ 1. tight junction protein binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 26 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18) CTCAGGACCCCCGCCGGGGCT 0.637000 8 19 0 0 1 0 0 SPAG6 9576 broad.mit.edu 37 10 22653900 22653900 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:22653900G>A ENST00000376603.2 + 3 610 c.468G>A c.(466-468)gtG>gtA p.V156V SPAG6_ENST00000313311.6_Silent_p.V80V|SPAG6_ENST00000538630.1_Silent_p.V55V|SPAG6_ENST00000376624.3_Silent_p.V80V|SPAG6_ENST00000376601.1_Silent_p.V80V|RP11-301N24.3_ENST00000422675.1_RNA O75602 SPAG6_HUMAN sperm associated antigen 6 80 cell projection organization|spermatid development axoneme|cilium|cytoplasm|flagellum|microtubule binding breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|prostate(1)|skin(2) 27 AAGCTGTTGTGAAGTGCGACA 0.368000 33 45 0 0 1 0 0 DNAJC6 9829 broad.mit.edu 37 1 65858322 65858322 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:65858322G>A ENST00000395325.3 + 12 1663 c.1506G>A c.(1504-1506)ctG>ctA p.L502L DNAJC6_ENST00000371069.4_Silent_p.L559L|DNAJC6_ENST00000263441.7_Silent_p.L489L NM_014787.3 NP_055602.1 O75061 AUXI_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 6 502 Pro-rich. cellular membrane organization|post-Golgi vesicle-mediated transport cytosol heat shock protein binding|protein tyrosine phosphatase activity|SH3 domain binding NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(22)|ovary(1)|prostate(2)|skin(1) 39 TTTTGGGCCTGGAAGGGTCTG 0.577000 21 32 0 0 1 0 0 CEP192 55125 broad.mit.edu 37 18 13049513 13049513 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr18:13049513C>T ENST00000506447.1 + 16 2803 c.2723C>T c.(2722-2724)tCa>tTa p.S908L CEP192_ENST00000430049.2_Missense_Mutation_p.S433L|CEP192_ENST00000325971.8_Missense_Mutation_p.S312L NM_032142.3 NP_115518.3 B7ZMF0 B7ZMF0_HUMAN centrosomal protein 192kDa 503 NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 GATAGTTATTCATCAGTGAGG 0.378000 36 97 0 0 1 0 0 MYO9A 4649 broad.mit.edu 37 15 72191104 72191104 + Missense_Mutation SNP T T A rs143652126 byFrequency TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr15:72191104T>A ENST00000356056.5 - 25 4212 c.3740A>T c.(3739-3741)cAg>cTg p.Q1247L MYO9A_ENST00000566885.1_Missense_Mutation_p.Q867L|MYO9A_ENST00000564571.1_Missense_Mutation_p.Q1247L|MYO9A_ENST00000444904.1_Missense_Mutation_p.Q1228L|MYO9A_ENST00000563542.1_5'UTR|MYO9A_ENST00000424560.1_Missense_Mutation_p.Q1247L NM_006901.3 NP_008832.2 B2RTY4 MYO9A_HUMAN myosin IXA 1247 Tail. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception cytosol|integral to membrane|unconventional myosin complex actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 88 CACATCTTCCTGCAAGTCCAC 0.483000 16 189 0 0 1 0 0 LACTB2 51110 broad.mit.edu 37 8 71553193 71553193 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:71553193G>A ENST00000276590.4 - 5 721 c.685C>T c.(685-687)Cgt>Tgt p.R229C RP11-382J12.1_ENST00000499227.2_Intron|RP11-382J12.1_ENST00000518553.1_Intron|LACTB2_ENST00000517601.1_Intron|LACTB2_ENST00000522447.1_Missense_Mutation_p.R229C NM_016027.2 NP_057111.1 Q53H82 LACB2_HUMAN lactamase, beta 2 229 hydrolase activity|metal ion binding endometrium(2)|large_intestine(1)|liver(1)|lung(4)|ovary(1)|prostate(1) 10 Breast(64;0.0716) Epithelial(68;0.00319)|all cancers(69;0.0175)|OV - Ovarian serous cystadenocarcinoma(28;0.0628)|BRCA - Breast invasive adenocarcinoma(89;0.166) AAGTTCTCACGAAATAATGTA 0.294000 21 27 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179464000 179464000 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:179464000C>T ENST00000589042.1 - 290 56744 c.56520G>A c.(56518-56520)aaG>aaA p.K18840K TTN_ENST00000359218.5_Silent_p.K9900K|TTN_ENST00000591111.1_Silent_p.K17199K|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Silent_p.K16272K|TTN_ENST00000460472.2_Silent_p.K9775K|TTN_ENST00000342175.6_Silent_p.K9967K|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000419746.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 17199 Ig-like 107. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) ACGTGCACTCCTTAGGTTCAC 0.423000 19 161 0 0 1 0 0 ZMPSTE24 10269 broad.mit.edu 37 1 40758214 40758214 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:40758214C>T ENST00000372759.3 + 10 1466 c.1301C>T c.(1300-1302)gCt>gTt p.A434V NM_005857.4 NP_005848.2 O75844 FACE1_HUMAN zinc metallopeptidase STE24 434 endoplasmic reticulum membrane|Golgi membrane|integral to membrane metal ion binding|metalloexopeptidase activity endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|prostate(1)|skin(1) 16 Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;6.3e-18) TTATATTCTGCTTTAATCAAA 0.398000 66 95 0 0 1 0 0 CGNL1 84952 broad.mit.edu 37 15 57810591 57810591 + Splice_Site SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr15:57810591G>A ENST00000281282.5 + 10 2689 c.2610_splice c.e10-1 p.G871_splice NM_001252335.1|NM_032866.4 NP_001239264.1|NP_116255.2 Q0VF96 CGNL1_HUMAN cingulin-like 1 871 myosin complex|tight junction motor activity autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1) 60 all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186) TTCATTGTAGGGAGAAATACG 0.473000 8 19 0 0 1 0 0 GALNT13 114805 broad.mit.edu 37 2 154801125 154801125 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:154801125G>A ENST00000392825.3 + 3 682 c.115G>A c.(115-117)Gag>Aag p.E39K GALNT13_ENST00000409237.1_Missense_Mutation_p.E39K NM_052917.2 NP_443149.2 Q8IUC8 GLT13_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13) 39 Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding p.E39K(1) NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 65 TGACAAGAAGGAGAGATCTCT 0.423000 46 116 0 0 1 0 0 TFRC 7037 broad.mit.edu 37 3 195798909 195798909 + Silent SNP A A T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:195798909A>T ENST00000360110.4 - 5 718 c.549T>A c.(547-549)cgT>cgA p.R183R TFRC_ENST00000540528.1_3'UTR|TFRC_ENST00000535031.1_5'UTR|TFRC_ENST00000420415.1_Silent_p.R102R|TFRC_ENST00000392396.3_Silent_p.R183R NM_001128148.1 NP_001121620.1 P02786 TFR1_HUMAN transferrin receptor 183 cellular iron ion homeostasis|endocytosis|interspecies interaction between organisms|proteolysis|transferrin transport|transmembrane transport coated pit|endosome|integral to plasma membrane|melanosome peptidase activity|transferrin receptor activity NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 all_cancers(143;1.94e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Epithelial(36;1.36e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.17e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.00233) AATGTTGATCACGCCAGACTT 0.343000 T BCL6 NHL 20 68 0 0 1 0 0 AGBL1 123624 broad.mit.edu 37 15 87066166 87066166 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr15:87066166C>T ENST00000441037.2 + 18 2638 c.2543C>T c.(2542-2544)cCc>cTc p.P848L AGBL1_ENST00000421325.2_Missense_Mutation_p.P848L|AGBL1_ENST00000389298.3_Missense_Mutation_p.P579L NM_152336.2 NP_689549.2 Q96MI9 CBPC4_HUMAN ATP/GTP binding protein-like 1 848 C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis cytosol metallocarboxypeptidase activity|tubulin binding|zinc ion binding NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 62 GGCCGAAGTCCCGTGGTGAGT 0.517000 6 199 0 0 1 0 0 COL8A1 1295 broad.mit.edu 37 3 99513718 99513718 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:99513718G>A ENST00000261037.3 + 5 1353 c.973G>A c.(973-975)Ggc>Agc p.G325S COL8A1_ENST00000273342.4_Missense_Mutation_p.G325S NM_001850.4 NP_001841.2 P27658 CO8A1_HUMAN collagen, type VIII, alpha 1 325 Triple-helical region (COL1). angiogenesis|cell adhesion basement membrane|collagen type VIII breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(15)|skin(5)|upper_aerodigestive_tract(1) 27 TGGGATCCCAGGCCAGCCAGG 0.627000 27 50 0 0 1 0 0 OXGR1 27199 broad.mit.edu 37 13 97639387 97639387 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr13:97639387G>A ENST00000298440.1 - 4 870 c.627C>T c.(625-627)ctC>ctT p.L209L OXGR1_ENST00000543457.1_Silent_p.L209L NM_080818.3 NP_543008.3 Q96P68 OXGR1_HUMAN oxoglutarate (alpha-ketoglutarate) receptor 1 209 integral to membrane|plasma membrane purinergic nucleotide receptor activity, G-protein coupled NS(1)|large_intestine(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 15 all_neural(89;0.0982)|Medulloblastoma(90;0.163) BRCA - Breast invasive adenocarcinoma(86;0.186) TCACCAAGGGGAGGCAGAAAG 0.468000 42 71 0 0 1 0 0 FAT3 120114 broad.mit.edu 37 11 92616073 92616073 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:92616073G>A ENST00000298047.6 + 23 12468 c.12451G>A c.(12451-12453)Ggg>Agg p.G4151R FAT3_ENST00000409404.2_Missense_Mutation_p.G4151R|FAT3_ENST00000533797.1_Missense_Mutation_p.G486R|FAT3_ENST00000525166.1_Missense_Mutation_p.G4001R Q8TDW7 FAT3_HUMAN FAT atypical cadherin 3 4151 homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 85 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) CTCCTACGTGGGGAAGGAGGA 0.602000 TCGA Ovarian(4;0.039) 9 14 0 0 1 0 0 UGT8 7368 broad.mit.edu 37 4 115589330 115589330 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:115589330C>T ENST00000310836.6 + 5 1654 c.1132C>T c.(1132-1134)Cca>Tca p.P378S UGT8_ENST00000394511.3_Missense_Mutation_p.P378S NM_001128174.1 NP_001121646.1 Q16880 CGT_HUMAN UDP glycosyltransferase 8 378 central nervous system development|peripheral nervous system development integral to membrane 2-hydroxyacylsphingosine 1-beta-galactosyltransferase activity|UDP-galactose:glucosylceramide beta-1,4-galactosyltransferase activity breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 31 Ovarian(17;0.156) OV - Ovarian serous cystadenocarcinoma(123;0.000632) AGTGGGAATTCCACTCTTTGG 0.403000 45 91 0 0 1 0 0 PYGO2 90780 broad.mit.edu 37 1 154932032 154932032 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:154932032G>A ENST00000368457.2 - 3 615 c.444C>T c.(442-444)ccC>ccT p.P148P PYGO2_ENST00000368456.1_Silent_p.P111P NM_138300.3 NP_612157.1 Q9BRQ0 PYGO2_HUMAN pygopus family PHD finger 2 148 Pro-rich. Wnt receptor signaling pathway nucleus protein binding|zinc ion binding endometrium(2)|large_intestine(2)|lung(3)|skin(2)|urinary_tract(1) 10 all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245) BRCA - Breast invasive adenocarcinoma(34;0.00034) GACCCTGGGGGGGCATGTTGA 0.632000 10 119 0 0 1 0 0 ANK3 288 broad.mit.edu 37 10 61829043 61829043 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:61829043G>A ENST00000280772.1 - 37 11787 c.11596C>T c.(11596-11598)Ccc>Tcc p.P3866S ANK3_ENST00000355288.2_Intron|ANK3_ENST00000503366.1_Intron|ANK3_ENST00000373827.2_Intron NM_020987.3 NP_066267.2 Q12955 ANK3_HUMAN ankyrin 3, node of Ranvier (ankyrin G) 3866 establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 196 GCCTTTATGGGAAGTTTGGAT 0.398000 118 251 0 0 1 0 0 IQCA1 79781 broad.mit.edu 37 2 237276915 237276915 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:237276915G>A ENST00000409907.3 - 14 1865 c.1591C>T c.(1591-1593)Cgc>Tgc p.R531C RP11-785G17.1_ENST00000605740.1_RNA|IQCA1_ENST00000309507.5_Missense_Mutation_p.R528C|IQCA1_ENST00000431676.2_Missense_Mutation_p.R490C Q86XH1 IQCA1_HUMAN IQ motif containing with AAA domain 1 531 ATP binding p.R539C(1)|p.R531C(1) cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(1) 26 GACACCTGGCGAAGAGTAGTC 0.507000 11 23 0 0 1 0 0 GRIN2B 2904 broad.mit.edu 37 12 13716888 13716888 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:13716888G>A ENST00000279593.3 - 13 3493 c.3284C>T c.(3283-3285)tCg>tTg p.S1095L NM_000834.3 NP_000825.2 Q13224 NMDE2_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2B 1095 response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1) 143 Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) GGACTTGGCCGAGGCAGGCCG 0.612000 45 59 0 0 1 0 0 PIANP 196500 broad.mit.edu 37 12 6804719 6804719 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:6804719C>T ENST00000534837.1 - 5 933 c.704G>A c.(703-705)gGa>gAa p.G235E PIANP_ENST00000540656.1_Missense_Mutation_p.G235E|PIANP_ENST00000320591.5_Missense_Mutation_p.G235E NM_001244014.1 NP_001230943.1 PILR alpha associated neural protein CACAGTGACTCCAGCCGGGGA 0.701000 40 90 0 0 1 0 0 CACNA1S 779 broad.mit.edu 37 1 201046126 201046126 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:201046126C>T ENST00000362061.3 - 12 1975 c.1749G>A c.(1747-1749)ggG>ggA p.G583G CACNA1S_ENST00000367338.3_Silent_p.G583G NM_000069.2 NP_000060.2 Q13698 CAC1S_HUMAN calcium channel, voltage-dependent, L type, alpha 1S subunit 583 axon guidance I band|T-tubule|voltage-gated calcium channel complex high voltage-gated calcium channel activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 102 Magnesium Sulfate(DB00653)|Verapamil(DB00661) AGTCATACCTCCCCCCAAAGA 0.572000 95 132 0 0 1 0 0 CNOT1 23019 broad.mit.edu 37 16 58587750 58587750 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr16:58587750G>A ENST00000317147.5 - 22 3238 c.2906C>T c.(2905-2907)cCc>cTc p.P969L CNOT1_ENST00000441024.2_Missense_Mutation_p.P969L|CNOT1_ENST00000569240.1_Missense_Mutation_p.P964L|CNOT1_ENST00000569732.1_Intron NM_001265612.1|NM_016284.4 NP_001252541.1|NP_057368.3 A5YKK6 CNOT1_HUMAN CCR4-NOT transcription complex, subunit 1 969 nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasmic mRNA processing body|cytosol breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2) 87 Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239) ACAATACTGGGGATAGTCCTT 0.368000 34 31 0 0 1 0 0 LMAN1L 79748 broad.mit.edu 37 15 75108988 75108988 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr15:75108988C>T ENST00000309664.5 + 4 593 c.454C>T c.(454-456)Cgt>Tgt p.R152C LMAN1L_ENST00000379709.3_Missense_Mutation_p.R152C NM_021819.2 NP_068591.2 Q9HAT1 LMA1L_HUMAN lectin, mannose-binding, 1 like 152 L-type lectin-like. ER-Golgi intermediate compartment membrane|integral to membrane sugar binding NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 TCCTGCCATCCGTGTGCTGGC 0.672000 30 57 0 0 1 0 0 LILRP2 79166 broad.mit.edu 37 19 55224609 55224609 + RNA SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:55224609C>T ENST00000413439.1 + 0 1781 CTCACACCCCCAGGATTACAC 0.602000 19 50 0 0 1 0 0 OTOL1 131149 broad.mit.edu 37 3 161221691 161221691 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:161221691C>T ENST00000327928.4 + 4 1395 c.1395C>T c.(1393-1395)ttC>ttT p.F465F NM_001080440.1 NP_001073909.1 A6NHN0 OTOL1_HUMAN otolin 1 465 C1q. collagen central_nervous_system(2)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1) 27 TTACTGGGTTCCTTTTGTACC 0.408000 8 29 0 0 1 0 0 POLR2J4 84820 broad.mit.edu 37 7 44009426 44009426 + RNA SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:44009426G>A ENST00000427076.1 - 0 1104 NR_003655.2 CCTCATCAGGGTCAACCTCCG 0.682000 9 29 0 0 1 0 0 LRPPRC 10128 broad.mit.edu 37 2 44145397 44145397 + Nonsense_Mutation SNP C C A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:44145397C>A ENST00000260665.7 - 28 3094 c.3037G>T c.(3037-3039)Gag>Tag p.E1013* NM_133259.3 NP_573566.2 P42704 LPPRC_HUMAN leucine-rich pentatricopeptide repeat containing 1013 mitochondrion transport along microtubule|mRNA transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent condensed nuclear chromosome|cytoskeleton|mitochondrial nucleoid|nuclear inner membrane|nuclear outer membrane|nucleoplasm|perinuclear region of cytoplasm beta-tubulin binding|microtubule binding|RNA binding breast(3)|endometrium(3)|kidney(5)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|skin(2) 41 all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17) ACAATTACCTCAGGTACGTCA 0.313000 23 85 2.70662e-09 2.72141e-09 1 1 0 RUSC2 9853 broad.mit.edu 37 9 35561370 35561370 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:35561370C>T ENST00000455600.1 + 12 5111 c.4542C>T c.(4540-4542)agC>agT p.S1514S NM_001135999.1 NP_001129471.1 Q8N2Y8 RUSC2_HUMAN RUN and SH3 domain containing 2 1514 cytosol NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194) CTGGAAGCAGCCAAAACTGAG 0.637000 38 97 0 0 1 0 0 SLC41A2 84102 broad.mit.edu 37 12 105303500 105303500 + Nonsense_Mutation SNP A A C TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:105303500A>C ENST00000258538.3 - 2 723 c.596T>G c.(595-597)tTa>tGa p.L199* NM_032148.3 NP_115524.3 Q96JW4 S41A2_HUMAN solute carrier family 41 (magnesium transporter), member 2 199 integral to membrane|plasma membrane magnesium ion transmembrane transporter activity breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1) 22 TGCAGGGACTAAAATGAAAAC 0.333000 46 58 0 0 1 0 0 OR7G1 125962 broad.mit.edu 37 19 9225580 9225580 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:9225580G>A ENST00000293614.1 - 1 859 c.860C>T c.(859-861)cCc>cTc p.P287L OR7G1_ENST00000541538.1_Missense_Mutation_p.P287L Q8NGA0 OR7G1_HUMAN olfactory receptor, family 7, subfamily G, member 1 287 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|skin(2) 20 GTAGATGAAGGGGTTCATCAT 0.433000 45 130 0 0 1 0 0 PAQR5 54852 broad.mit.edu 37 15 69652438 69652438 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr15:69652438C>T ENST00000340965.3 + 3 687 c.19C>T c.(19-21)Ccc>Tcc p.P7S PAQR5_ENST00000561153.1_Missense_Mutation_p.P7S|PAQR5_ENST00000395407.2_Missense_Mutation_p.P7S|PAQR5_ENST00000561027.1_3'UTR NM_001104554.1 NP_001098024.1 Q9NXK6 MPRG_HUMAN progestin and adipoQ receptor family member V 7 cell differentiation|multicellular organismal development|oogenesis integral to membrane receptor activity|steroid binding endometrium(3)|kidney(2)|large_intestine(1)|lung(2)|ovary(2)|skin(1) 11 CCTGAAGCTCCCCAGGCTGTT 0.547000 46 108 0 0 1 0 0 CHAF1A 10036 broad.mit.edu 37 19 4432179 4432179 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:4432179C>T ENST00000301280.5 + 12 2279 c.2178C>T c.(2176-2178)tcC>tcT p.S726S CHAF1A_ENST00000587368.1_3'UTR NM_005483.2 NP_005474.2 Q13111 CAF1A_HUMAN chromatin assembly factor 1, subunit A (p150) 726 Binds to p60. cell cycle|DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent CAF-1 complex|WINAC complex chromatin binding|chromo shadow domain binding|unfolded protein binding breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1) 27 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18) CCAAGGCCTCCAAGCGGGAGA 0.647000 Chromatin Structure 25 41 0 0 1 0 0 NCKAP1L 3071 broad.mit.edu 37 12 54910690 54910690 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:54910690C>T ENST00000293373.6 + 11 1088 c.1009C>T c.(1009-1011)Cat>Tat p.H337Y NCKAP1L_ENST00000552211.1_3'UTR|NCKAP1L_ENST00000545638.2_Missense_Mutation_p.H287Y NM_005337.4 NP_005328.2 P55160 NCKPL_HUMAN NCK-associated protein 1-like 337 actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis cytosol|integral to plasma membrane|membrane fraction|SCAR complex protein complex binding|protein kinase activator activity|Rac GTPase activator activity NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2) 80 TGGCCAGTTTCATTGTCAACG 0.498000 26 59 0 0 1 0 0 MAGI1 9223 broad.mit.edu 37 3 65367638 65367638 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:65367638G>A ENST00000330909.8 - 17 2698 c.2699C>T c.(2698-2700)tCa>tTa p.S900L MAGI1_ENST00000483466.1_Missense_Mutation_p.S900L|MAGI1_ENST00000497477.2_Missense_Mutation_p.S872L|MAGI1_ENST00000402939.2_Missense_Mutation_p.S872L NM_015520.1 NP_056335.1 Q96QZ7 MAGI1_HUMAN membrane associated guanylate kinase, WW and PDZ domain containing 1 900 cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly tight junction ATP binding|protein C-terminus binding breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5) 51 Lung NSC(201;0.0016) BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133) AAGCTGGTGTGATTTTCCAAT 0.502000 7 99 0 0 1 0 0 OR14A16 284532 broad.mit.edu 37 1 247978257 247978257 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:247978257G>A ENST00000357627.1 - 1 774 c.775C>T c.(775-777)Cca>Tca p.P259S NM_001001966.1 NP_001001966.1 Q8NHC5 O14AG_HUMAN olfactory receptor, family 14, subfamily A, member 16 259 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(32)|skin(2)|stomach(1) 45 TCTGAAGCTGGCTTCAGATAA 0.418000 29 70 0 0 1 0 0 GIMAP4 55303 broad.mit.edu 37 7 150270131 150270131 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:150270131C>T ENST00000255945.2 + 3 1148 c.973C>T c.(973-975)Ctg>Ttg p.L325L GIMAP4_ENST00000461940.1_Silent_p.L339L NM_018326.2 NP_060796.1 Q9NUV9 GIMA4_HUMAN GTPase, IMAP family member 4 325 GTP binding breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 14 OV - Ovarian serous cystadenocarcinoma(82;0.0179) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) TTTGTTACGTCTGTTCGCGGA 0.393000 39 83 0 0 1 0 0 DCHS1 8642 broad.mit.edu 37 11 6654846 6654846 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:6654846C>T ENST00000299441.3 - 5 2663 c.2252G>A c.(2251-2253)cGg>cAg p.R751Q RP11-732A19.6_ENST00000526633.1_RNA NM_003737.2 NP_003728.1 Q96JQ0 PCD16_HUMAN dachsous cadherin-related 1 751 Cadherin 7. calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4) 103 Medulloblastoma(188;0.00263)|all_neural(188;0.026) Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) AGAATTGGCCCGTCTGGCCAA 0.547000 5 4 0 0 1 0 0 LRFN1 57622 broad.mit.edu 37 19 39805458 39805458 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:39805458G>A ENST00000248668.4 - 1 518 c.519C>T c.(517-519)aaC>aaT p.N173N CTC-246B18.8_ENST00000601911.1_RNA NM_020862.1 NP_065913.1 Q9P244 LRFN1_HUMAN leucine rich repeat and fibronectin type III domain containing 1 173 cell junction|integral to membrane|postsynaptic density|postsynaptic membrane central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1) 18 all_cancers(60;1.85e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512) Epithelial(26;1.96e-27)|all cancers(26;2.05e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335) GGGCCTCCAGGTTGTTGTAGG 0.627000 11 18 0 0 1 0 0 IGLV3-9 28804 broad.mit.edu 37 22 23162007 23162007 + RNA SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr22:23162007G>A ENST00000390316.2 + 0 215 AGTGGCCCTGGGACAGACGGC 0.527000 26 65 0 0 1 0 0 RRBP1 6238 broad.mit.edu 37 20 17640960 17640960 + Missense_Mutation SNP T T C TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr20:17640960T>C ENST00000377813.1 - 3 496 c.193A>G c.(193-195)Aca>Gca p.T65A RRBP1_ENST00000246043.4_Missense_Mutation_p.T65A|RRBP1_ENST00000455029.2_Intron|RRBP1_ENST00000360807.4_Missense_Mutation_p.T65A|RRBP1_ENST00000377807.2_Missense_Mutation_p.T65A Q9P2E9 RRBP1_HUMAN ribosome binding protein 1 65 protein transport|translation|transmembrane transport integral to endoplasmic reticulum membrane|ribosome receptor activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(6) 28 ttctccactgttttctccttc 0.463000 14 20 0 0 1 0 0 C8B 732 broad.mit.edu 37 1 57411596 57411596 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:57411596C>T ENST00000543257.1 - 8 1413 c.847G>A c.(847-849)Gat>Aat p.D283N C8B_ENST00000535057.1_Missense_Mutation_p.D273N|C8B_ENST00000371237.4_Missense_Mutation_p.D335N NM_001278543.1 NP_001265472.1 P07358 CO8B_HUMAN complement component 8, beta polypeptide 335 MACPF. complement activation, alternative pathway|complement activation, classical pathway|cytolysis membrane attack complex breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1) 52 CGGAAGAGATCTCTGTATTCC 0.502000 33 67 0 0 1 0 0 KCNH7 90134 broad.mit.edu 37 2 163374572 163374572 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:163374572G>A ENST00000332142.5 - 4 659 c.560C>T c.(559-561)tCa>tTa p.S187L KCNH7_ENST00000477019.1_5'UTR|KCNH7_ENST00000328032.4_Missense_Mutation_p.S187L NM_033272.3 NP_150375.2 Q9NS40 KCNH7_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 7 187 regulation of transcription, DNA-dependent integral to membrane protein binding|signal transducer activity NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3) 108 Ibutilide(DB00308) GTGTTTAGATGAATCGATGAC 0.423000 56 103 0 0 1 0 0 NCAN 1463 broad.mit.edu 37 19 19349199 19349199 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:19349199G>A ENST00000252575.5 + 11 3431 c.3388G>A c.(3388-3390)Gag>Aag p.E1130K NCAN_ENST00000538881.1_Missense_Mutation_p.E581K NM_004386.2 NP_004377.2 O14594 NCAN_HUMAN neurocan 1130 C-type lectin. axon guidance|cell adhesion extracellular region calcium ion binding|hyaluronic acid binding|sugar binding breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 64 Epithelial(12;0.00544) CCACTCACCGGAGGAACACAG 0.647000 38 109 0 0 1 0 0 TRPC4 7223 broad.mit.edu 37 13 38229380 38229380 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr13:38229380C>T ENST00000379705.3 - 7 2586 c.1729G>A c.(1729-1731)Ggg>Agg p.G577R TRPC4_ENST00000379681.3_Missense_Mutation_p.G577R|TRPC4_ENST00000379673.2_Missense_Mutation_p.G577R|TRPC4_ENST00000447043.1_Missense_Mutation_p.G577R|TRPC4_ENST00000355779.2_Missense_Mutation_p.G577R|TRPC4_ENST00000338947.5_Missense_Mutation_p.G404R|TRPC4_ENST00000426868.2_3'UTR|TRPC4_ENST00000358477.2_Missense_Mutation_p.G577R|TRPC4_ENST00000379679.1_Missense_Mutation_p.G404R Q9UBN4 TRPC4_HUMAN transient receptor potential cation channel, subfamily C, member 4 577 axon guidance|calcium ion import basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton beta-catenin binding|cadherin binding|store-operated calcium channel activity NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2) 83 all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126) TTGATGAGCCCAAATATTGAC 0.353000 14 27 0 0 1 0 0 GLDC 2731 broad.mit.edu 37 9 6556173 6556173 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:6556173C>T ENST00000321612.6 - 18 2332 c.2182G>A c.(2182-2184)Ggg>Agg p.G728R NM_000170.2 NP_000161.2 P23378 GCSP_HUMAN glycine dehydrogenase (decarboxylating) 728 glycine catabolic process mitochondrion electron carrier activity|glycine dehydrogenase (decarboxylating) activity|lyase activity|pyridoxal phosphate binding p.G728R(1) cervix(1)|endometrium(2)|large_intestine(5)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 37 Acute lymphoblastic leukemia(23;0.161) GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134) Glycine(DB00145)|Pyridoxal Phosphate(DB00114) ATATTTGCCCCGTCTAGGTAG 0.443000 20 29 0 0 1 0 0 PLEC 5339 broad.mit.edu 37 8 144991851 144991851 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:144991851C>T ENST00000322810.4 - 32 12718 c.12549G>A c.(12547-12549)caG>caA p.Q4183Q PLEC_ENST00000356346.3_Silent_p.Q4032Q|PLEC_ENST00000354589.3_Silent_p.Q4046Q|PLEC_ENST00000398774.2_Silent_p.Q4014Q|PLEC_ENST00000527096.1_Silent_p.Q4069Q|PLEC_ENST00000436759.2_Silent_p.Q4073Q|PLEC_ENST00000354958.2_Silent_p.Q4024Q|PLEC_ENST00000345136.3_Silent_p.Q4046Q|PLEC_ENST00000357649.2_Silent_p.Q4050Q NM_201380.2 NP_958782.1 Q15149 PLEC_HUMAN plectin 4183 Globular 2. cellular component disassembly involved in apoptosis|hemidesmosome assembly cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma actin binding|structural constituent of muscle NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10) 137 CCGTGGCGATCTGGGCCTCCA 0.627000 26 87 0 0 1 0 0 METTL21B 25895 broad.mit.edu 37 12 58174353 58174353 + Missense_Mutation SNP T T A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:58174353T>A ENST00000300209.8 + 3 730 c.605T>A c.(604-606)cTg>cAg p.L202Q METTL21B_ENST00000333012.5_3'UTR|RP11-571M6.15_ENST00000553083.1_Intron|METTL21B_ENST00000551420.1_Missense_Mutation_p.L21Q|RP11-571M6.15_ENST00000471530.1_Intron NM_015433.2 NP_056248.2 Q96AZ1 MT21B_HUMAN methyltransferase like 21B 202 integral to membrane|intracellular methyltransferase activity endometrium(1)|lung(1) 2 CATTTCCAACTGGAGCTGGCT 0.537000 4 64 0 0 1 0 0 TLL2 7093 broad.mit.edu 37 10 98173072 98173072 + Splice_Site SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:98173072C>T ENST00000357947.3 - 8 1150 c.923_splice c.e8-1 p.G309_splice TLL2_ENST00000469598.1_5'UTR NM_012465.3 NP_036597.1 Q9Y6L7 TLL2_HUMAN tolloid-like 2 309 Metalloprotease (By similarity). cell differentiation|multicellular organismal development|proteolysis extracellular region calcium ion binding|metalloendopeptidase activity|zinc ion binding NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3) 58 Colorectal(252;0.0846) Epithelial(162;1.51e-07)|all cancers(201;7.59e-06) AAGAAAACTCCTCTACAGGAA 0.507000 14 33 0 0 1 0 0 CYP4A22 284541 broad.mit.edu 37 1 47607282 47607282 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:47607282G>A ENST00000371891.3 + 3 408 c.377G>A c.(376-378)cGg>cAg p.R126Q CYP4A22_ENST00000485117.1_3'UTR|CYP4A22-AS1_ENST00000444042.2_lincRNA|CYP4A22_ENST00000294337.3_Missense_Mutation_p.R126Q|CYP4A22_ENST00000371890.3_Missense_Mutation_p.R126Q NM_001010969.2 NP_001010969.2 Q5TCH4 CP4AM_HUMAN cytochrome P450, family 4, subfamily A, polypeptide 22 126 R -> W (in allele CYP4A22*8, allele CYP4A22*9, allele CYP4A22*11, allele CYP4A22*12, allele CYP4A22*13, allele CYP4A22*14 and allele CYP4A22*15; dbSNP:rs12564525). endoplasmic reticulum membrane|microsome alkane 1-monooxygenase activity|electron carrier activity|heme binding breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 CTGGCTCCACGGATTGGTATG 0.448000 52 73 0 0 1 0 0 RNF19A 25897 broad.mit.edu 37 8 101300381 101300381 + Missense_Mutation SNP A A T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:101300381A>T ENST00000519449.1 - 3 338 c.22T>A c.(22-24)Ttt>Att p.F8I RNF19A_ENST00000341084.2_Missense_Mutation_p.F8I NM_015435.3 NP_056250.3 Q9NV58 RN19A_HUMAN ring finger protein 19A, RBR E3 ubiquitin protein ligase 8 microtubule cytoskeleton organization|protein modification process centrosome|integral to membrane ligase activity|transcription factor binding|zinc ion binding breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1) 30 all_cancers(14;3.5e-05)|all_epithelial(15;8.91e-08)|Lung NSC(17;0.000615)|all_lung(17;0.00166) Epithelial(11;3.06e-11)|all cancers(13;5.78e-09)|OV - Ovarian serous cystadenocarcinoma(57;2.24e-05)|STAD - Stomach adenocarcinoma(118;0.0525) TTAGAGATAAAACCTATTTCT 0.353000 4 60 0 0 1 0 0 ROR1 4919 broad.mit.edu 37 1 64644200 64644200 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:64644200C>T ENST00000371079.1 + 9 2851 c.2476C>T c.(2476-2478)Cct>Tct p.P826S ROR1_ENST00000545203.1_Missense_Mutation_p.P277S NM_005012.3 NP_005003.2 Q01973 ROR1_HUMAN receptor tyrosine kinase-like orphan receptor 1 826 Pro-rich. transmembrane receptor protein tyrosine kinase signaling pathway cytoplasm|integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding breast(7)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(10)|ovary(6)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1) 51 CCCAATACCTCCTGGATATGC 0.557000 27 54 0 0 1 0 0 CACNA1F 778 broad.mit.edu 37 X 49072946 49072946 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chrX:49072946G>A ENST00000376265.2 - 27 3226 c.3165C>T c.(3163-3165)ccC>ccT p.P1055P CACNA1F_ENST00000376251.1_Silent_p.P990P|CACNA1F_ENST00000323022.5_Silent_p.P1044P NM_005183.2 NP_005174.2 O60840 CAC1F_HUMAN calcium channel, voltage-dependent, L type, alpha 1F subunit 1055 axon guidance|detection of light stimulus involved in visual perception voltage-gated calcium channel complex protein binding|voltage-gated calcium channel activity autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1) 85 Verapamil(DB00661) CCCGGACCAGGGGCCGTGACA 0.562000 12 3 0 0 1 0 0 KLHDC7A 127707 broad.mit.edu 37 1 18808821 18808821 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:18808821C>T ENST00000400664.1 + 1 1398 c.1346C>T c.(1345-1347)gCc>gTc p.A449V NM_152375.2 NP_689588.2 Q5VTJ3 KLD7A_HUMAN kelch domain containing 7A 449 integral to membrane endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2) 22 Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649) AACCTGGAGGCCCTGAAAGAG 0.622000 56 110 0 0 1 0 0 LEKR1 389170 broad.mit.edu 37 3 156745934 156745934 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:156745934G>A ENST00000470811.1 + 13 1834 c.499G>A c.(499-501)Gaa>Aaa p.E167K LEKR1_ENST00000356539.4_Missense_Mutation_p.E471K D3DNK7 D3DNK7_HUMAN leucine, glutamate and lysine rich 1 0 breast(1)|large_intestine(5)|lung(3)|ovary(1)|skin(1) 11 LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465) TCTAAGGCAGGAAGTGACCAC 0.338000 27 41 0 0 1 0 0 PCLO 27445 broad.mit.edu 37 7 82580183 82580183 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:82580183C>T ENST00000423517.2 - 6 10058 c.9721G>A c.(9721-9723)Gaa>Aaa p.E3241K PCLO_ENST00000333891.8_Missense_Mutation_p.E3241K NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 3172 Gln-rich. cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 CTTTGAATTTCCTGACGTTCC 0.448000 49 165 0 0 1 0 0 KIAA1324 57535 broad.mit.edu 37 1 109707276 109707276 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:109707276G>A ENST00000369939.3 + 3 613 c.430G>A c.(430-432)Gat>Aat p.D144N KIAA1324_ENST00000529753.1_Missense_Mutation_p.D144N NM_020775.4 NP_065826.2 Q6UXG2 K1324_HUMAN KIAA1324 144 macroautophagy|positive regulation of vacuole organization|regulation of apoptosis integral to plasma membrane NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 34 all_epithelial(167;0.000102)|all_lung(203;0.000323)|Lung NSC(277;0.00063) Colorectal(144;0.0188)|Lung(183;0.0527)|COAD - Colon adenocarcinoma(174;0.14)|Epithelial(280;0.21)|all cancers(265;0.249) CATGGAGCTGGATGACAGTGC 0.617000 25 50 0 0 1 0 0 SEPT2 4735 broad.mit.edu 37 2 242277170 242277170 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:242277170C>T ENST00000391973.2 + 7 1087 c.559C>T c.(559-561)Ctc>Ttc p.L187F SEPT2_ENST00000360051.3_Missense_Mutation_p.L187F|SEPT2_ENST00000391971.2_Missense_Mutation_p.L187F|SEPT2_ENST00000402092.2_Missense_Mutation_p.L187F|SEPT2_ENST00000401990.1_Missense_Mutation_p.L197F|SEPT2_ENST00000407971.1_Missense_Mutation_p.L147F NM_006155.1 NP_006146.1 Q15019 SEPT2_HUMAN septin 2 187 cell division|mitosis actin cytoskeleton|cleavage furrow|condensed chromosome kinetochore|midbody|nucleolus|septin complex|spindle GTP binding central_nervous_system(2)|endometrium(1)|large_intestine(4)|lung(3)|skin(2) 12 all_cancers(19;7.62e-41)|all_epithelial(40;1.71e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244) Epithelial(32;1.24e-34)|all cancers(36;7.15e-32)|OV - Ovarian serous cystadenocarcinoma(60;1.21e-15)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;3.16e-06)|Lung(119;7.81e-05)|LUSC - Lung squamous cell carcinoma(224;0.000742)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0889) AGCTGACACTCTCACCCTGAA 0.498000 35 75 0 0 1 0 0 PTCHD2 57540 broad.mit.edu 37 1 11561610 11561610 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:11561610G>A ENST00000294484.6 + 2 699 c.561G>A c.(559-561)cgG>cgA p.R187R PTCHD2_ENST00000389575.3_Silent_p.R187R NM_020780.1 NP_065831.1 Q9P2K9 PTHD2_HUMAN patched domain containing 2 187 cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway endoplasmic reticulum|integral to membrane|nuclear membrane hedgehog receptor activity NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 76 Ovarian(185;0.249) Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549) GCCCTTACCGGGACACTTCCG 0.692000 10 24 0 0 1 0 0 CCPG1 9236 broad.mit.edu 37 15 55652890 55652890 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr15:55652890C>T ENST00000310958.6 - 8 1379 c.1081G>A c.(1081-1083)Gaa>Aaa p.E361K DYX1C1-CCPG1_ENST00000565113.1_RNA|CCPG1_ENST00000569205.1_Missense_Mutation_p.E361K|CCPG1_ENST00000442196.3_Missense_Mutation_p.E361K|CCPG1_ENST00000425574.3_Intron NM_001204450.1|NM_001204451.1|NM_004748.4|NM_020739.3 NP_001191379.1|NP_001191380.1|NP_004739.3|NP_065790.2 Q9ULG6 CCPG1_HUMAN cell cycle progression 1 361 cell cycle integral to membrane autonomic_ganglia(1)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|stomach(3) 30 all cancers(107;0.0354) TTCTGCTTTTCCTCTTCCAAA 0.358000 51 126 0 0 1 0 0 F13A1 2162 broad.mit.edu 37 6 6224953 6224953 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:6224953G>A ENST00000264870.3 - 7 1204 c.939C>T c.(937-939)ggC>ggT p.G313G NM_000129.3 NP_000120.2 P00488 F13A_HUMAN coagulation factor XIII, A1 polypeptide 313 peptide cross-linking|platelet activation|platelet degranulation extracellular region|platelet alpha granule lumen acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 62 Ovarian(93;0.0816) all_hematologic(90;0.152) L-Glutamine(DB00130) CCCAGCATTGGCCATACCGGA 0.428000 61 245 0 0 1 0 0 LRRC61 65999 broad.mit.edu 37 7 150034598 150034598 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:150034598G>A ENST00000359623.4 + 3 1236 c.648G>A c.(646-648)ctG>ctA p.L216L LRRC61_ENST00000493307.1_Silent_p.L216L|LRRC61_ENST00000323078.7_Silent_p.L216L NM_001142928.1 NP_001136400.1 Q9BV99 LRC61_HUMAN leucine rich repeat containing 61 216 endometrium(2)|large_intestine(1)|skin(1)|upper_aerodigestive_tract(1) 5 OV - Ovarian serous cystadenocarcinoma(82;0.011) GCTCCATCCTGGAGGAGGCCT 0.701000 15 63 0 0 1 0 0 DEFA6 1671 broad.mit.edu 37 8 6782427 6782427 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:6782427G>A ENST00000297436.2 - 2 256 c.216C>T c.(214-216)tgC>tgT p.C72C NM_001926.3 NP_001917.1 Q01524 DEF6_HUMAN defensin, alpha 6, Paneth cell-specific 72 defense response to bacterium|defense response to fungus|killing of cells of other organism extracellular space lung(4) 4 STAD - Stomach adenocarcinoma(24;0.0322) COAD - Colon adenocarcinoma(149;0.0572)|READ - Rectum adenocarcinoma(644;0.121) TTCTGCAATGGCAAGTGAAAG 0.488000 33 47 0 0 1 0 0 RAB19 401409 broad.mit.edu 37 7 140111794 140111794 + Missense_Mutation SNP A A G TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:140111794A>G ENST00000275874.5 + 4 661 c.463A>G c.(463-465)Atc>Gtc p.I155V RAB19_ENST00000356407.3_Missense_Mutation_p.I108V|RAB19_ENST00000537763.1_Missense_Mutation_p.I108V A4D1S5 RAB19_HUMAN RAB19, member RAS oncogene family 108 protein transport|small GTPase mediated signal transduction plasma membrane GTP binding breast(3)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1) 9 Melanoma(164;0.0142) GTTCGAGTCCATCCCTCACTG 0.498000 35 269 0 0 1 0 0 PTPRB 5787 broad.mit.edu 37 12 70990055 70990055 + Silent SNP G G C TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:70990055G>C ENST00000334414.6 - 5 1076 c.1032C>G c.(1030-1032)acC>acG p.T344T PTPRB_ENST00000261266.5_Silent_p.T126T|PTPRB_ENST00000551525.1_Silent_p.T343T|PTPRB_ENST00000451516.2_Silent_p.T126T|PTPRB_ENST00000550857.1_Silent_p.T126T|PTPRB_ENST00000538708.1_Silent_p.T126T|PTPRB_ENST00000538174.2_5'UTR|PTPRB_ENST00000550358.1_Silent_p.T344T NM_001109754.2 NP_001103224.1 P23467 PTPRB_HUMAN protein tyrosine phosphatase, receptor type, B 126 Fibronectin type-III 4. angiogenesis integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3) 107 Renal(347;0.236) GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149) CATGCAAGCTGGTTGAAGTCG 0.393000 4 32 0 0 1 0 0 FBP2 8789 broad.mit.edu 37 9 97333857 97333857 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:97333857C>T ENST00000375337.3 - 4 520 c.454G>A c.(454-456)Gat>Aat p.D152N NM_003837.2 NP_003828.2 O00757 F16P2_HUMAN fructose-1,6-bisphosphatase 2 152 fructose metabolic process|gluconeogenesis cytosol fructose 1,6-bisphosphate 1-phosphatase activity|fructose-2,6-bisphosphate 2-phosphatase activity|metal ion binding endometrium(1)|large_intestine(3)|lung(5) 9 Acute lymphoblastic leukemia(62;0.136) TGCAGGGCATCCTTTTCAGAA 0.552000 26 62 0 0 1 0 0 SRRM2 23524 broad.mit.edu 37 16 2817500 2817500 + Missense_Mutation SNP C C T rs149143366 TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr16:2817500C>T ENST00000301740.8 + 11 7520 c.6971C>T c.(6970-6972)cCc>cTc p.P2324L NM_016333.3 NP_057417.3 Q9UQ35 SRRM2_HUMAN serine/arginine repetitive matrix 2 2324 Ala-rich.|Ser-rich. Cajal body|catalytic step 2 spliceosome|nuclear speck C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7) 105 GCAAACTATCCCTCCAGCTCC 0.602000 153 379 0 0 1 0 0 GTF2IRD2 84163 broad.mit.edu 37 7 74211766 74211766 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:74211766G>A ENST00000405086.2 - 16 2274 c.2085C>T c.(2083-2085)ctC>ctT p.L695L GTF2IRD2_ENST00000451013.2_Silent_p.L242L NM_173537.2 NP_775808.2 Q86UP8 GTD2A_HUMAN GTF2I repeat domain containing 2 695 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(3)|large_intestine(2)|lung(2)|ovary(2)|skin(1) 11 ccagctcatagagcaaggttg 0.512000 53 176 0 0 1 0 0 CRTC2 200186 broad.mit.edu 37 1 153924882 153924882 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:153924882G>A ENST00000368633.1 - 9 870 c.743C>T c.(742-744)cCt>cTt p.P248L CRTC2_ENST00000368630.3_Intron NM_181715.2 NP_859066.1 Q53ET0 CRTC2_HUMAN CREB regulated transcription coactivator 2 248 interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus protein binding NS(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|skin(1)|upper_aerodigestive_tract(2) 27 all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) CTTAATTCCAGGGACTTCACA 0.527000 65 58 0 0 1 0 0 GPR128 84873 broad.mit.edu 37 3 100354671 100354671 + Splice_Site SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:100354671G>A ENST00000273352.3 + 5 865 c.e5+1 GPR128_ENST00000475887.1_Splice_Site NM_032787.2 NP_116176.2 Q96K78 GP128_HUMAN G protein-coupled receptor 128 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 56 TTCACCTGAGGTAAAACTCAC 0.368000 23 51 0 0 1 0 0 KCNK18 338567 broad.mit.edu 37 10 118969155 118969155 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:118969155G>A ENST00000334549.1 + 3 500 c.500G>A c.(499-501)cGa>cAa p.R167Q NM_181840.1 NP_862823.1 Q7Z418 KCNKI_HUMAN potassium channel, subfamily K, member 18 167 integral to membrane|plasma membrane breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 41 Colorectal(252;0.19) all cancers(201;0.0211) AATCGGTTCCGAAAATTCCCT 0.507000 61 132 0 0 1 0 0 LCT 3938 broad.mit.edu 37 2 136566839 136566839 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:136566839G>A ENST00000264162.2 - 8 3088 c.3078C>T c.(3076-3078)gcC>gcT p.A1026A NM_002299.2 NP_002290.2 P09848 LPH_HUMAN lactase 1026 4 X approximate repeats. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|integral to plasma membrane|membrane fraction cation binding|glycosylceramidase activity|lactase activity breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4) 124 BRCA - Breast invasive adenocarcinoma(221;0.169) TATCCTGGAGGGCCTGGGGCA 0.483000 25 47 0 0 1 0 0 NLRP2 55655 broad.mit.edu 37 19 55493985 55493985 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:55493985G>A ENST00000543010.1 + 6 1062 c.919G>A c.(919-921)Gac>Aac p.D307N NLRP2_ENST00000263437.6_Missense_Mutation_p.D304N|NLRP2_ENST00000427260.2_Missense_Mutation_p.D284N|NLRP2_ENST00000537859.1_Missense_Mutation_p.D285N|NLRP2_ENST00000339757.7_Missense_Mutation_p.D285N|NLRP2_ENST00000538819.1_Missense_Mutation_p.D283N|NLRP2_ENST00000391721.4_Missense_Mutation_p.D283N|NLRP2_ENST00000448584.2_Missense_Mutation_p.D307N NM_001174081.1 NP_001167552.1 Q9NX02 NALP2_HUMAN NLR family, pyrin domain containing 2 307 NACHT. apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion cytoplasm ATP binding|Pyrin domain binding large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3) 11 BRCA - Breast invasive adenocarcinoma(297;0.163) GBM - Glioblastoma multiforme(193;0.028) CATCTGCGGGGACTGGGAGAA 0.617000 24 66 0 0 1 0 0 ALS2CL 259173 broad.mit.edu 37 3 46718182 46718182 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:46718182C>T ENST00000318962.4 - 18 2061 c.1978G>A c.(1978-1980)Gag>Aag p.E660K ALS2CL_ENST00000415953.1_Missense_Mutation_p.E660K|ALS2CL_ENST00000383742.3_Missense_Mutation_p.E7K NM_147129.3 NP_667340.2 Q60I27 AL2CL_HUMAN ALS2 C-terminal like 660 endosome organization|regulation of Rho protein signal transduction GTPase activator activity|identical protein binding|Rho guanyl-nucleotide exchange factor activity NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(3)|stomach(2) 29 BRCA - Breast invasive adenocarcinoma(193;0.000726)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202) TGCAGCAGCTCCTCCAGGATG 0.657000 41 54 0 0 1 0 0 SAMD9 54809 broad.mit.edu 37 7 92733768 92733768 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:92733768G>A ENST00000379958.2 - 3 1912 c.1643C>T c.(1642-1644)tCt>tTt p.S548F NM_001193307.1|NM_017654.3 NP_001180236.1|NP_060124.2 Q5K651 SAMD9_HUMAN sterile alpha motif domain containing 9 548 cytoplasm NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 88 all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125) STAD - Stomach adenocarcinoma(171;0.000302) GTCATCCACAGAGGACAGTAA 0.408000 13 252 0 0 1 0 0 MATN4 8785 broad.mit.edu 37 20 43933367 43933367 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr20:43933367G>A ENST00000537548.1 - 4 388 c.144C>T c.(142-144)ttC>ttT p.F48F MATN4_ENST00000372756.1_Silent_p.F48F|MATN4_ENST00000353917.5_Silent_p.F48F|MATN4_ENST00000360607.5_Silent_p.F48F|MATN4_ENST00000342716.4_Silent_p.F48F|MATN4_ENST00000372754.1_Silent_p.F48F|MATN4_ENST00000372753.1_Intron|MATN4_ENST00000372751.4_Intron O95460 MATN4_HUMAN matrilin 4 48 VWFA 1. extracellular region protein binding p.F48F(1) central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 27 Myeloproliferative disorder(115;0.0122) TCTCGAACTCGAAAGGGCGCA 0.627000 15 51 0 0 1 0 0 PPP1R11 6992 broad.mit.edu 37 6 30035241 30035241 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:30035241C>T ENST00000376772.3 + 1 377 c.54C>T c.(52-54)acC>acT p.T18T PPP1R11_ENST00000376773.1_Intron|PPP1R11_ENST00000376769.2_5'UTR NM_021959.2 NP_068778.1 O60927 PP1RB_HUMAN protein phosphatase 1, regulatory (inhibitor) subunit 11 18 soluble fraction protein binding|protein phosphatase inhibitor activity lung(2)|ovary(1)|prostate(1)|skin(2) 6 CAACGGTTACCGTGACAACCG 0.622000 41 128 0 0 1 0 0 AHNAK 79026 broad.mit.edu 37 11 62298006 62298006 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:62298006G>A ENST00000378024.4 - 5 4157 c.3883C>T c.(3883-3885)Cca>Tca p.P1295S AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron NM_001620.1 NP_001611.1 Q09666 AHNK_HUMAN AHNAK nucleoprotein 1295 nervous system development nucleus protein binding NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 268 Melanoma(852;0.155) CTCACATCTGGGACTTCAACA 0.542000 10 379 0 0 1 0 0 KRTAP5-9 3846 broad.mit.edu 37 11 71259938 71259938 + Nonsense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:71259938C>T ENST00000528743.2 + 1 473 c.235C>T c.(235-237)Cag>Tag p.Q79* NM_005553.3 NP_005544.4 P26371 KRA59_HUMAN keratin associated protein 5-9 79 8 X 4 AA repeats of C-C-X-P. epidermis development keratin filament kidney(1)|large_intestine(1)|lung(6)|prostate(3) 11 TGGCTGCTCCCAGTGCAGTTG 0.627000 120 221 0 0 1 0 0 ZNF827 152485 broad.mit.edu 37 4 146770635 146770635 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:146770635G>A ENST00000508784.1 - 6 2287 c.2060C>T c.(2059-2061)tCg>tTg p.S687L ZNF827_ENST00000379448.4_Missense_Mutation_p.S687L|ZNF827_ENST00000511534.1_5'UTR|ZNF827_ENST00000513320.1_Missense_Mutation_p.S337L Q17R98 ZN827_HUMAN zinc finger protein 827 687 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 48 all_hematologic(180;0.151) GGGTGATATCGAGACATGGGA 0.502000 55 128 0 0 1 0 0 MDN1 23195 broad.mit.edu 37 6 90432796 90432796 + Missense_Mutation SNP G G A rs140483375 TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:90432796G>A ENST00000369393.3 - 40 5960 c.5845C>T c.(5845-5847)Cgg>Tgg p.R1949W MDN1_ENST00000428876.1_Missense_Mutation_p.R1949W Q9NU22 MDN1_HUMAN MDN1, midasin homolog (yeast) 1949 protein complex assembly|regulation of protein complex assembly nucleus ATP binding|ATPase activity|unfolded protein binding NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 218 all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246) BRCA - Breast invasive adenocarcinoma(108;0.0193) AAAAGGTCCCGGAGGTTGAAT 0.473000 97 233 0 0 1 0 0 ALS2CL 259173 broad.mit.edu 37 3 46712996 46712996 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:46712996G>A ENST00000318962.4 - 25 2846 c.2763C>T c.(2761-2763)ttC>ttT p.F921F ALS2CL_ENST00000415953.1_Silent_p.F921F|ALS2CL_ENST00000383742.3_Silent_p.F268F NM_147129.3 NP_667340.2 Q60I27 AL2CL_HUMAN ALS2 C-terminal like 921 VPS9. endosome organization|regulation of Rho protein signal transduction GTPase activator activity|identical protein binding|Rho guanyl-nucleotide exchange factor activity NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(3)|stomach(2) 29 BRCA - Breast invasive adenocarcinoma(193;0.000726)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202) CTGTGAGCAGGAAGTCATACA 0.592000 36 75 0 0 1 0 0 TRO 7216 broad.mit.edu 37 X 54956883 54956883 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chrX:54956883G>A ENST00000173898.7 + 12 3838 c.3726G>A c.(3724-3726)ggG>ggA p.G1242G TRO_ENST00000399736.1_Intron|TRO_ENST00000375022.4_Intron|TRO_ENST00000375041.2_Silent_p.G845G|TRO_ENST00000319167.8_Intron|TRO_ENST00000420798.2_Silent_p.G773G NM_001039705.1 NP_001034794.1 Q12816 TROP_HUMAN trophinin 1242 62 X 10 AA approximate tandem repeats. embryo implantation|homophilic cell adhesion integral to plasma membrane breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|skin(2)|urinary_tract(1) 37 TTGATGGTGGGCTAGGTACCA 0.607000 6 67 0 0 1 0 0 TRIOBP 11078 broad.mit.edu 37 22 38119668 38119668 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr22:38119668C>T ENST00000406386.3 + 7 1360 c.1105C>T c.(1105-1107)Cct>Tct p.P369S RP1-37E16.12_ENST00000455236.1_RNA NM_001039141.2 NP_001034230.1 Q9H2D6 TARA_HUMAN TRIO and F-actin binding protein 369 actin modification|barbed-end actin filament capping actin cytoskeleton|cytoplasm|nucleus actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 12 Melanoma(58;0.0574) AACTTCTTTTCCTACTTGTAC 0.557000 89 192 0 0 1 0 0 ACSM2B 348158 broad.mit.edu 37 16 20570704 20570704 + Nonsense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr16:20570704C>T ENST00000329697.6 - 3 411 c.243G>A c.(241-243)tgG>tgA p.W81* ACSM2B_ENST00000414188.2_Nonsense_Mutation_p.W81*|ACSM2B_ENST00000565232.1_Nonsense_Mutation_p.W81*|ACSM2B_ENST00000567001.1_Nonsense_Mutation_p.W81*|ACSM2B_ENST00000565322.1_Nonsense_Mutation_p.W2* NM_001105069.1 NP_001098539.1 Q68CK6 ACS2B_HUMAN acyl-CoA synthetase medium-chain family member 2B 81 fatty acid metabolic process|xenobiotic metabolic process mitochondrial matrix ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5) 57 CTCTGAAATTCCACATTAATT 0.572000 13 31 0 0 1 0 0 GLB1L2 89944 broad.mit.edu 37 11 134241380 134241380 + Silent SNP G G A rs147485542 TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:134241380G>A ENST00000535456.2 + 14 1610 c.1422G>A c.(1420-1422)ctG>ctA p.L474L GLB1L2_ENST00000529077.1_3'UTR|GLB1L2_ENST00000339772.7_Silent_p.L474L|GLB1L2_ENST00000389881.3_Silent_p.L474L NM_138342.3 NP_612351.2 Q8IW92 GLBL2_HUMAN galactosidase, beta 1-like 2 474 carbohydrate metabolic process extracellular region cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 41 all_hematologic(175;0.127) all_cancers(12;2.85e-18)|all_epithelial(12;1.21e-12)|all_lung(97;0.000276)|Lung NSC(97;0.000518)|Breast(109;0.00122)|Medulloblastoma(222;0.0399)|all_neural(223;0.0412)|Esophageal squamous(93;0.0844) Epithelial(10;1.37e-11)|all cancers(11;2.2e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000885)|Lung(977;0.223) CTGTCCCCCTGATCCAGGTTC 0.542000 58 77 0 0 1 0 0 PCDH15 65217 broad.mit.edu 37 10 55582058 55582058 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:55582058G>A ENST00000361849.3 - 34 5828 c.5434C>T c.(5434-5436)Ctt>Ttt p.L1812F PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000437009.1_Missense_Mutation_p.L1741F|PCDH15_ENST00000395445.1_Intron|PCDH15_ENST00000395433.1_Missense_Mutation_p.L1787F|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395430.1_Missense_Mutation_p.L1807F|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000395432.2_Missense_Mutation_p.L1770F|PCDH15_ENST00000395438.1_Intron|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000373965.2_Intron|PCDH15_ENST00000414778.1_Intron|PCDH15_ENST00000320301.6_Missense_Mutation_p.L1810F NM_001142763.1|NM_001142764.1|NM_001142765.1|NM_001142768.1 NP_001136235.1|NP_001136236.1|NP_001136237.1|NP_001136240.1 Q96QU1 PCD15_HUMAN protocadherin-related 15 1810 equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1) 237 Melanoma(3;0.117)|Lung SC(717;0.238) ggaggtagaagaggtggTGTT 0.498000 HNSCC(58;0.16) 8 29 0 0 1 0 0 ALPK2 115701 broad.mit.edu 37 18 56247440 56247440 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr18:56247440G>A ENST00000361673.3 - 4 781 c.568C>T c.(568-570)Cct>Tct p.P190S NM_052947.3 NP_443179.3 Q86TB3 ALPK2_HUMAN alpha-kinase 2 190 ATP binding|protein serine/threonine kinase activity NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2) 84 ACACCCAAAGGATTTTCAGAA 0.443000 84 160 0 0 1 0 0 GSTM2 2946 broad.mit.edu 37 1 110251135 110251135 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:110251135G>A ENST00000369831.2 + 8 694 c.600G>A c.(598-600)agG>agA p.R200R GSTM1_ENST00000490021.2_3'UTR|GSTM1_ENST00000483399.2_3'UTR glutathione S-transferase mu 2 (muscle) kidney(1)|large_intestine(2)|lung(4)|prostate(2)|upper_aerodigestive_tract(2) 11 all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244) all cancers(265;0.0122)|Colorectal(144;0.0129)|Epithelial(280;0.0146)|Lung(183;0.0422)|COAD - Colon adenocarcinoma(174;0.047)|LUSC - Lung squamous cell carcinoma(189;0.227) gctcgagaaggaatctggatA 0.418000 8 7 0 0 1 0 0 VPS13A 23230 broad.mit.edu 37 9 79827939 79827939 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:79827939C>T ENST00000360280.3 + 8 870 c.610C>T c.(610-612)Cgt>Tgt p.R204C VPS13A_ENST00000357409.5_Missense_Mutation_p.R204C|VPS13A_ENST00000376636.3_Missense_Mutation_p.R204C|VPS13A_ENST00000376634.4_Missense_Mutation_p.R204C NM_033305.2 NP_150648.2 Q96RL7 VP13A_HUMAN vacuolar protein sorting 13 homolog A (S. cerevisiae) 204 Golgi to endosome transport|protein transport intracellular protein binding p.R204C(2) breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1) 104 GAAACTGGTTCGTAAGGTAAA 0.323000 22 52 0 0 1 0 0 BDP1 55814 broad.mit.edu 37 5 70805813 70805813 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:70805813C>T ENST00000358731.4 + 17 3157 c.2894C>T c.(2893-2895)tCc>tTc p.S965F BDP1_ENST00000380675.2_5'UTR NM_018429.2 NP_060899.2 A6H8Y1 BDP1_HUMAN B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB 965 9 X 55 AA repeats of G-R-R-X-I-S-P-X-E-N- G-X-E-E-V-K-P-X-X-E-M-E-T-D-L-K-X-T-G-R- E-X-X-X-R-E-K-T-X-E-X-X-D-A-X-E-E-I-D-X- D-L-E-E-T. regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter nucleoplasm DNA binding NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 72 Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50) AATGAGAGTTCCCCAAGGGAG 0.448000 46 101 0 0 1 0 0 GIMAP6 474344 broad.mit.edu 37 7 150325023 150325023 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:150325023G>A ENST00000328902.5 - 3 879 c.663C>T c.(661-663)gcC>gcT p.A221A GIMAP6_ENST00000493969.1_3'UTR NM_001244072.1|NM_024711.5 NP_001231001.1|NP_078987.3 Q6P9H5 GIMA6_HUMAN GTPase, IMAP family member 6 221 GTP binding endometrium(4)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 29 OV - Ovarian serous cystadenocarcinoma(82;0.0145) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) CCCACATAATGGCTTCAACTT 0.507000 104 369 0 0 1 0 0 SLC25A42 284439 broad.mit.edu 37 19 19216374 19216374 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:19216374C>T ENST00000318596.7 + 5 369 c.218C>T c.(217-219)gCc>gTc p.A73V SLC25A42_ENST00000600275.1_Intron NM_178526.4 NP_848621.2 Q86VD7 S2542_HUMAN solute carrier family 25, member 42 73 transmembrane transport integral to membrane|mitochondrial inner membrane binding cervix(1)|large_intestine(2)|lung(3) 6 OV - Ovarian serous cystadenocarcinoma(5;5.4e-06)|Epithelial(12;0.000497) CTCCAGGAGGCCTTCCGGGTC 0.652000 15 43 0 0 1 0 0 GRB10 2887 broad.mit.edu 37 7 50737461 50737461 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:50737461G>A ENST00000403097.1 - 6 1224 c.444C>T c.(442-444)ctC>ctT p.L148L GRB10_ENST00000335866.3_Silent_p.L96L|GRB10_ENST00000439599.1_Silent_p.L148L|GRB10_ENST00000402578.1_Silent_p.L96L|GRB10_ENST00000401949.1_Silent_p.L154L|GRB10_ENST00000406641.1_Silent_p.L96L|GRB10_ENST00000407526.1_Silent_p.L96L|GRB10_ENST00000398810.2_Silent_p.L96L|GRB10_ENST00000357271.5_Silent_p.L154L|GRB10_ENST00000402497.1_Silent_p.L96L|GRB10_ENST00000398812.2_Silent_p.L154L Q13322 GRB10_HUMAN growth factor receptor-bound protein 10 154 insulin receptor signaling pathway|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway cytosol|plasma membrane insulin receptor binding|SH3/SH2 adaptor activity NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|upper_aerodigestive_tract(2) 41 Glioma(55;0.08)|all_neural(89;0.245) AACCCGGCGTGAGCACAGGGG 0.612000 Russell-Silver syndrome 21 40 0 0 1 0 0 SNAP91 9892 broad.mit.edu 37 6 84311139 84311139 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:84311139G>A ENST00000428679.2 - 16 1768 c.1175C>T c.(1174-1176)tCc>tTc p.S392F SNAP91_ENST00000521743.1_Missense_Mutation_p.S392F|SNAP91_ENST00000520302.1_Missense_Mutation_p.S390F|SNAP91_ENST00000521485.1_Missense_Mutation_p.S392F|SNAP91_ENST00000437520.1_Intron|SNAP91_ENST00000520213.1_Intron|SNAP91_ENST00000369694.2_Missense_Mutation_p.S392F|SNAP91_ENST00000439399.2_Missense_Mutation_p.S392F|SNAP91_ENST00000195649.6_Missense_Mutation_p.S392F O60641 AP180_HUMAN synaptosomal-associated protein, 91kDa 392 Ala-rich. clathrin coat assembly clathrin coat|coated pit|plasma membrane 1-phosphatidylinositol binding|clathrin binding breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(22)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 37 all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575) BRCA - Breast invasive adenocarcinoma(397;0.0967) GGGAACAGAGGAAAGTGCAGC 0.443000 12 37 0 0 1 0 0 PCNXL2 80003 broad.mit.edu 37 1 233160975 233160975 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:233160975C>T ENST00000258229.8 - 26 4756 c.4522G>A c.(4522-4524)Ggc>Agc p.G1508S PCNXL2_ENST00000344698.2_Missense_Mutation_p.G160S NM_014801.3 NP_055616.3 A6NKB5 PCX2_HUMAN pecanex-like 2 (Drosophila) 1508 integral to membrane NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 86 all_cancers(173;0.0347)|Prostate(94;0.137) ATGCTGTAGCCCTCCAGGATG 0.572000 OREG0014326 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 96 118 0 0 1 0 0 TNR 7143 broad.mit.edu 37 1 175362925 175362925 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:175362925G>A ENST00000367674.1 - 6 2055 c.1347C>T c.(1345-1347)ttC>ttT p.F449F TNR_ENST00000263525.2_Silent_p.F449F NM_003285.2 NP_003276.3 Q92752 TENR_HUMAN tenascin R 449 Fibronectin type-III 2. axon guidance|cell adhesion|signal transduction proteinaceous extracellular matrix NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 177 Renal(580;0.146) CCTTTGGAATGAAGCTGATTT 0.478000 160 199 0 0 1 0 0 DNAH3 55567 broad.mit.edu 37 16 21063139 21063139 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr16:21063139C>T ENST00000261383.3 - 29 4089 c.4090G>A c.(4090-4092)Gat>Aat p.D1364N DNAH3_ENST00000415178.1_Missense_Mutation_p.D1364N NM_017539.1 NP_060009.1 Q8TD57 DYH3_HUMAN dynein, axonemal, heavy chain 3 1364 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6) 202 GBM - Glioblastoma multiforme(48;0.207) CATTGGAAATCATTCAGATCG 0.532000 39 122 0 0 1 0 0 POU6F2 11281 broad.mit.edu 37 7 39379538 39379538 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:39379538C>T ENST00000518318.2 + 5 851 c.809C>T c.(808-810)tCc>tTc p.S270F POU6F2_ENST00000517348.1_3'UTR|POU6F2_ENST00000403058.1_Missense_Mutation_p.S270F|POU6F2_ENST00000559001.1_Missense_Mutation_p.S262F P78424 PO6F2_HUMAN POU class 6 homeobox 2 270 Gln-rich.|Pro-rich. central nervous system development|ganglion mother cell fate determination|transcription from RNA polymerase II promoter|visual perception sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 42 cagcagagctccagccccCCG 0.617000 28 51 0 0 1 0 0 LOC93432 93432 broad.mit.edu 37 7 141896378 141896378 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:141896378C>T ENST00000477922.3 + 39 4548 c.4494C>T c.(4492-4494)ttC>ttT p.F1498F endometrium(1)|lung(5) 6 TGATGGAGTTCAGTCTCTTTG 0.458000 3 8 0 0 1 0 0 FCRL5 83416 broad.mit.edu 37 1 157512895 157512895 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:157512895G>A ENST00000361835.3 - 6 1034 c.877C>T c.(877-879)Cct>Tct p.P293S FCRL5_ENST00000368189.3_Missense_Mutation_p.P293S|FCRL5_ENST00000368190.3_Missense_Mutation_p.P293S|FCRL5_ENST00000356953.4_Missense_Mutation_p.P293S|FCRL5_ENST00000368191.3_Missense_Mutation_p.P208S NM_001195388.1|NM_031281.2 NP_001182317.1|NP_112571.2 Q96RD9 FCRL5_HUMAN Fc receptor-like 5 293 Ig-like C2-type 3. integral to membrane|plasma membrane receptor activity breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 85 all_hematologic(112;0.0378)|Hepatocellular(266;0.178) Prostate(1639;0.231) GCCTTTTCAGGGCTGAGAGTG 0.453000 18 70 0 0 1 0 0 AARS2 57505 broad.mit.edu 37 6 44268929 44268929 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:44268929G>A ENST00000244571.4 - 21 2759 c.2757C>T c.(2755-2757)ccC>ccT p.P919P TMEM151B_ENST00000438774.2_Intron|AARS2_ENST00000491573.1_5'UTR NM_020745.3 NP_065796.1 Q5JTZ9 SYAM_HUMAN alanyl-tRNA synthetase 2, mitochondrial 919 alanyl-tRNA aminoacylation mitochondrion alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(2)|stomach(1) 34 Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) L-Alanine(DB00160) CCTTCCCCATGGGCTGGGGGC 0.622000 41 122 0 0 1 0 0 HLA-G 3135 broad.mit.edu 37 6 29796516 29796516 + Silent SNP G G A rs113386443 TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:29796516G>A ENST00000428701.1 + 4 718 c.540G>A c.(538-540)agG>agA p.R180R HLA-G_ENST00000376815.3_Intron|HLA-G_ENST00000360323.6_Silent_p.R180R|HLA-G_ENST00000376828.2_Silent_p.R185R|HLA-G_ENST00000376818.3_Intron NM_002127.5 NP_002118.1 P17693 HLAG_HUMAN major histocompatibility complex, class I, G 180 Alpha-2. antigen processing and presentation of peptide antigen via MHC class I|cellular defense response|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway integral to membrane|MHC class I protein complex MHC class I receptor activity central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(4)|ovary(3)|pancreas(1)|prostate(5)|skin(1) 21 CTGAACAAAGGAGAGCCTACC 0.652000 52 121 0 0 1 0 0 ZNF334 55713 broad.mit.edu 37 20 45130432 45130432 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr20:45130432G>A ENST00000457685.2 - 6 2755 c.1432C>T c.(1432-1434)Ctt>Ttt p.L478F ZNF334_ENST00000593880.1_Missense_Mutation_p.L539F|ZNF334_ENST00000347606.4_Missense_Mutation_p.L516F Q9HCZ1 ZN334_HUMAN zinc finger protein 334 516 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 32 Myeloproliferative disorder(115;0.0122) CACTCATAAAGATTCTCCTTT 0.398000 8 305 0 0 1 0 0 PRPF8 10594 broad.mit.edu 37 17 1579245 1579245 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:1579245G>A ENST00000572621.1 - 17 2921 c.2656C>T c.(2656-2658)Ctc>Ttc p.L886F PRPF8_ENST00000304992.6_Missense_Mutation_p.L886F Q6P2Q9 PRP8_HUMAN pre-mRNA processing factor 8 886 catalytic step 2 spliceosome|nuclear speck|U5 snRNP protein binding|RNA binding NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3) 77 UCEC - Uterine corpus endometrioid carcinoma (25;0.0855) CTCTGTGTGAGGAGGTGACGC 0.537000 18 57 0 0 1 0 0 SHANK3 85358 broad.mit.edu 37 22 51160431 51160431 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr22:51160431G>A ENST00000414786.2 + 21 4355 c.4128G>A c.(4126-4128)ggG>ggA p.G1376G SHANK3_ENST00000262795.3_Silent_p.G1406G|SHANK3_ENST00000445220.2_Silent_p.G1392G F2Z3L0 F2Z3L0_HUMAN SH3 and multiple ankyrin repeat domains 3 1406 central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5) 8 all_cancers(38;3.75e-11)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178) BRCA - Breast invasive adenocarcinoma(115;0.22) CGGAGAGCGGGGAACTCACTG 0.617000 13 13 0 0 1 0 0 ST6GAL2 84620 broad.mit.edu 37 2 107459957 107459957 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:107459957C>T ENST00000409382.3 - 2 1087 c.477G>A c.(475-477)cgG>cgA p.R159R ST6GAL2_ENST00000409087.3_Silent_p.R159R|ST6GAL2_ENST00000361686.4_Silent_p.R159R NM_001142351.1 NP_001135823.1 Q96JF0 SIAT2_HUMAN ST6 beta-galactosamide alpha-2,6-sialyltranferase 2 159 growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation Golgi cisterna membrane|integral to Golgi membrane beta-galactoside alpha-2,6-sialyltransferase activity autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 65 AAGCCCCCTCCCGTGGGCCTG 0.652000 91 163 0 0 1 0 0 CNTNAP2 26047 broad.mit.edu 37 7 147914404 147914404 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:147914404G>A ENST00000361727.3 + 19 3551 c.3035G>A c.(3034-3036)gGg>gAg p.G1012E CNTNAP2_ENST00000538075.1_Missense_Mutation_p.G71E NM_014141.5 NP_054860.1 Q9UHC6 CNTP2_HUMAN contactin associated protein-like 2 1012 behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex receptor binding NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3) 188 Melanoma(164;0.153) all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794) OV - Ovarian serous cystadenocarcinoma(82;0.0319) TTTGAAGAAGGGATGTGGCTA 0.488000 HNSCC(39;0.1) 12 254 0 0 1 0 0 TRIM69 140691 broad.mit.edu 37 15 45047476 45047476 + Translation_Start_Site SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr15:45047476G>A ENST00000558173.1 + 0 2361 TRIM69_ENST00000329464.4_Missense_Mutation_p.D129N|TRIM69_ENST00000338264.4_Intron|TRIM69_ENST00000559390.1_Missense_Mutation_p.D129N|TRIM69_ENST00000558329.1_Intron|TRIM69_ENST00000561043.1_Intron|TRIM69_ENST00000560442.1_Intron Q86WT6 TRI69_HUMAN tripartite motif containing 69 apoptosis nuclear speck zinc ion binding cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(9)|skin(1) 20 all_cancers(109;2.47e-13)|all_epithelial(112;2.84e-11)|Lung NSC(122;2.23e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122) all cancers(107;5.5e-19)|GBM - Glioblastoma multiforme(94;1.07e-06)|Colorectal(105;0.138)|COAD - Colon adenocarcinoma(120;0.141) CAGTAAACCAGATGGGAAACT 0.473000 37 73 0 0 1 0 0 FRAS1 80144 broad.mit.edu 37 4 79372957 79372957 + Silent SNP A A G TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:79372957A>G ENST00000264895.6 + 46 6935 c.6495A>G c.(6493-6495)gaA>gaG p.E2165E NM_025074.6 NP_079350.5 Q86XX4 FRAS1_HUMAN Fraser syndrome 1 2164 cell communication integral to membrane|plasma membrane metal ion binding breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4) 103 GAACAGGAGAACCTGGAGGGA 0.383000 16 28 0 0 1 0 0 CGB7 94027 broad.mit.edu 37 19 49558630 49558630 + Translation_Start_Site SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:49558630C>T ENST00000597853.1 - 3 2874 c.3G>A c.(1-3)atG>atA p.M1I CGB7_ENST00000596965.1_Start_Codon_SNP_p.M1I|CGB7_ENST00000377280.3_Start_Codon_SNP_p.M1I|CGB7_ENST00000356213.4_5'UTR chorionic gonadotropin, beta polypeptide 7 lung(3)|urinary_tract(2) 5 all_epithelial(76;9.62e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) all cancers(93;0.000371)|OV - Ovarian serous cystadenocarcinoma(262;0.000503)|GBM - Glioblastoma multiforme(486;0.00518)|Epithelial(262;0.0427) GGAACATCTCCATCCTTGGTG 0.602000 95 219 0 0 1 0 0 SCN2A 6326 broad.mit.edu 37 2 166234156 166234156 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:166234156G>A ENST00000375437.2 + 23 4594 c.4304G>A c.(4303-4305)cGa>cAa p.R1435Q SCN2A_ENST00000375427.2_Missense_Mutation_p.R1435Q|SCN2A_ENST00000357398.3_Missense_Mutation_p.R1435Q|SCN2A_ENST00000283256.6_Missense_Mutation_p.R1435Q NM_001040142.1 NP_001035232.1 Q99250 SCN2A_HUMAN sodium channel, voltage-gated, type II, alpha subunit 1435 myelination node of Ranvier|voltage-gated sodium channel complex voltage-gated sodium channel activity NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 118 Lamotrigine(DB00555) GTTGATTCACGAAATGTAAGT 0.269000 36 77 0 0 1 0 0 DMWD 1762 broad.mit.edu 37 19 46289647 46289647 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:46289647G>A ENST00000270223.6 - 3 1152 c.1107C>T c.(1105-1107)tcC>tcT p.S369S DMWD_ENST00000377735.3_Silent_p.S369S NM_004943.1 NP_004934.1 Q09019 DMWD_HUMAN dystrophia myotonica, WD repeat containing 369 meiosis central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1) 16 Ovarian(192;0.0308)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.00604)|GBM - Glioblastoma multiforme(486;0.0807)|Epithelial(262;0.236) CGTTGACCCAGGACTTGTGGC 0.672000 5 187 0 0 1 0 0 THSD4 79875 broad.mit.edu 37 15 71952932 71952932 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr15:71952932G>A ENST00000355327.3 + 8 1350 c.1216G>A c.(1216-1218)Gga>Aga p.G406R THSD4_ENST00000261862.6_Missense_Mutation_p.G406R|THSD4_ENST00000357769.4_Missense_Mutation_p.G46R|THSD4_ENST00000567838.1_3'UTR Q6ZMP0 THSD4_HUMAN thrombospondin, type I, domain containing 4 406 proteinaceous extracellular matrix metalloendopeptidase activity breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 GGTGTGTGGAGGAGACAACAC 0.532000 60 189 0 0 1 0 0 BMP3 651 broad.mit.edu 37 4 81967745 81967745 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:81967745C>T ENST00000282701.2 + 2 1490 c.1170C>T c.(1168-1170)tcC>tcT p.S390S NM_001201.2 NP_001192.2 P12645 BMP3_HUMAN bone morphogenetic protein 3 390 cartilage development|cell differentiation|cell-cell signaling|growth|ossification extracellular space BMP receptor binding|cytokine activity|growth factor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1) 29 GGATTATCTCCCCCAAGTCCT 0.463000 70 142 0 0 1 0 0 PLEKHO1 51177 broad.mit.edu 37 1 150123193 150123193 + Nonsense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:150123193G>A ENST00000369124.4 + 2 400 c.122G>A c.(121-123)tGg>tAg p.W41* PLEKHO1_ENST00000369126.1_5'UTR|PLEKHO1_ENST00000025469.6_Nonsense_Mutation_p.W41*|PLEKHO1_ENST00000479194.1_3'UTR NM_016274.4 NP_057358.2 Q53GL0 PKHO1_HUMAN pleckstrin homology domain containing, family O member 1 41 PH. cytoplasm|nucleus|plasma membrane breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|skin(2) 22 Lung NSC(24;7.78e-28)|Breast(34;0.00211)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.171) AGGGAGATTTGGAAAAACCGC 0.567000 7 264 0 0 1 0 0 HRASLS5 117245 broad.mit.edu 37 11 63257752 63257752 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:63257752G>A ENST00000540857.1 - 2 334 c.202C>T c.(202-204)Ccg>Tcg p.P68S HRASLS5_ENST00000301790.4_Missense_Mutation_p.P78S|HRASLS5_ENST00000539221.1_Missense_Mutation_p.P78S NM_001146728.1|NM_001146729.1|NM_054108.3 NP_001140200.1|NP_001140201.1|NP_473449.1 Q96KN8 HRSL5_HUMAN HRAS-like suppressor family, member 5 78 endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1) 14 AATGTGCCCGGCGGAGGCTGC 0.498000 165 317 0 0 1 0 0 GRB14 2888 broad.mit.edu 37 2 165381522 165381522 + Missense_Mutation SNP T T A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:165381522T>A ENST00000263915.3 - 5 1208 c.670A>T c.(670-672)Att>Ttt p.I224F GRB14_ENST00000543549.1_Missense_Mutation_p.I137F NM_004490.2 NP_004481.2 Q14449 GRB14_HUMAN growth factor receptor-bound protein 14 224 blood coagulation|leukocyte migration cytosol|endosome membrane|Golgi membrane|microsome|plasma membrane SH3/SH2 adaptor activity breast(3)|endometrium(2)|large_intestine(6)|lung(10)|ovary(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 32 aCCTGCAAAATCTGTGTGGGG 0.279000 33 74 0 0 1 0 0 IL1RAPL1 11141 broad.mit.edu 37 X 29301305 29301305 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chrX:29301305G>A ENST00000378993.1 + 3 1006 c.333G>A c.(331-333)caG>caA p.Q111Q IL1RAPL1_ENST00000302196.4_Silent_p.Q111Q NM_014271.3 NP_055086.1 Q9NZN1 IRPL1_HUMAN interleukin 1 receptor accessory protein-like 1 111 Ig-like C2-type 1. innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development cytoplasm|integral to membrane|plasma membrane protein binding|transmembrane receptor activity biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 62 CATTGCTACAGGACAGTGGTC 0.443000 45 26 0 0 1 0 0 FAT4 79633 broad.mit.edu 37 4 126411610 126411610 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:126411610G>A ENST00000394329.3 + 17 13646 c.13633G>A c.(13633-13635)Gag>Aag p.E4545K FAT4_ENST00000335110.5_Missense_Mutation_p.E2786K NM_024582.4 NP_078858.4 Q6V0I7 FAT4_HUMAN FAT atypical cadherin 4 4545 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6) 355 GAAACCGAAGGAGAAGAAGAA 0.512000 48 79 0 0 1 0 0 CELF2 10659 broad.mit.edu 37 10 11363282 11363282 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:11363282C>T ENST00000379261.4 + 11 1280 c.1188C>T c.(1186-1188)gcC>gcT p.A396A CELF2_ENST00000416382.2_Silent_p.A396A|CELF2_ENST00000354897.3_Silent_p.A390A|CELF2_ENST00000537122.1_Silent_p.A291A|CELF2_ENST00000315874.3_Silent_p.A378A|CELF2_ENST00000399850.3_Silent_p.A378A|CELF2_ENST00000354440.2_Silent_p.A378A|CELF2_ENST00000450189.1_Silent_p.A409A|CELF2_ENST00000542579.1_Silent_p.A409A|CELF2_ENST00000417956.2_Silent_p.A376A|CELF2_ENST00000427450.1_Silent_p.A378A NM_001025077.2 NP_001020248.1 O95319 CELF2_HUMAN CUGBP, Elav-like family member 2 396 Ala-rich.|Necessary for RNA-binding, TNNT2 exon 5 and NMDA R1 exon 21 inclusion. mRNA processing|regulation of heart contraction cytoplasm|nucleus nucleotide binding|protein binding|RNA binding breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|prostate(1)|skin(1) 16 ACGCAGCCGCCGCGCTGCCCA 0.652000 41 65 0 0 1 0 0 SLIT3 6586 broad.mit.edu 37 5 168222515 168222515 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:168222515C>T ENST00000519560.1 - 10 1423 c.1004G>A c.(1003-1005)cGa>cAa p.R335Q SLIT3_ENST00000332966.8_Missense_Mutation_p.R335Q|SLIT3_ENST00000404867.3_Missense_Mutation_p.R335Q NM_001271946.1|NM_003062.2 NP_001258875.1|NP_003053.1 O75094 SLIT3_HUMAN slit homolog 3 (Drosophila) 335 apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway extracellular space|mitochondrion calcium ion binding|Roundabout binding endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) AACTCACATTCGCTTCAGTTT 0.488000 39 79 0 0 1 0 0 CLSTN2 64084 broad.mit.edu 37 3 140185516 140185516 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:140185516G>A ENST00000458420.3 + 8 1477 c.1287G>A c.(1285-1287)aaG>aaA p.K429K NM_022131.2 NP_071414.2 Q9H4D0 CSTN2_HUMAN calsyntenin 2 429 homophilic cell adhesion endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 87 TCTTGCGGAAGGACTTCGACC 0.537000 HNSCC(16;0.037) 31 71 0 0 1 0 0 COL9A1 1297 broad.mit.edu 37 6 70961982 70961982 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:70961982C>T ENST00000357250.6 - 27 1959 c.1801G>A c.(1801-1803)Gga>Aga p.G601R COL9A1_ENST00000370499.4_Missense_Mutation_p.G358R|COL9A1_ENST00000489611.1_5'UTR|COL9A1_ENST00000320755.7_Missense_Mutation_p.G358R NM_001851.4 NP_001842.3 P20849 CO9A1_HUMAN collagen, type IX, alpha 1 601 Triple-helical region (COL2). axon guidance|cell adhesion|organ morphogenesis collagen type IX metal ion binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4) 80 CCTGAATTTCCCATCTGACCA 0.423000 39 82 0 0 1 0 0 ODAM 54959 broad.mit.edu 37 4 71062448 71062448 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:71062448G>A ENST00000396094.2 + 2 139 c.91G>A c.(91-93)Gag>Aag p.E31K NM_017855.3 NP_060325.3 A1E959 ODAM_HUMAN odontogenic, ameloblast asssociated 31 biomineral tissue development|odontogenesis of dentine-containing tooth fibril p.E31K(1)|p.E31*(1) NS(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(8)|ovary(3)|skin(2) 20 CAATAGCAATGAGGTTAGTTT 0.323000 19 35 0 0 1 0 0 KCNA6 3742 broad.mit.edu 37 12 4919558 4919558 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:4919558C>T ENST00000433855.1 + 1 1217 c.351C>T c.(349-351)ttC>ttT p.F117F KCNA6_ENST00000280684.3_Silent_p.F117F NM_002235.3 NP_002226.1 P17658 KCNA6_HUMAN potassium voltage-gated channel, shaker-related subfamily, member 6 117 voltage-gated potassium channel complex voltage-gated potassium channel activity NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5) 49 TGGACATTTTCCTGGAGGAGA 0.672000 HNSCC(72;0.22) 7 125 0 0 1 0 0 HRH1 3269 broad.mit.edu 37 3 11301749 11301749 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:11301749G>A ENST00000397056.1 + 3 1217 c.1026G>A c.(1024-1026)ggG>ggA p.G342G HRH1_ENST00000431010.2_Silent_p.G342G|HRH1_ENST00000438284.2_Silent_p.G342G NM_000861.3|NM_001098211.1 NP_000852.1|NP_001091681.1 P35367 HRH1_HUMAN histamine receptor H1 342 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|inflammatory response cytoplasm|integral to plasma membrane|nucleus histamine receptor activity autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 25 Aceprometazine(DB01615)|Astemizole(DB00637)|Azatadine(DB00719)|Azelastine(DB00972)|Benzquinamide(DB00767)|Bepotastine(DB04890)|Bromodiphenhydramine(DB01237)|Brompheniramine(DB00835)|Buclizine(DB00354)|Carbinoxamine(DB00748)|Cetirizine(DB00341)|Chlophedianol(DB04837)|Chlorpheniramine(DB01114)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clemastine(DB00283)|Clozapine(DB00363)|Cyclizine(DB01176)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexbrompheniramine(DB00405)|Dimenhydrinate(DB00985)|Diphenhydramine(DB01075)|Diphenylpyraline(DB01146)|Doxepin(DB01142)|Doxylamine(DB00366)|Emedastine(DB01084)|Epinastine(DB00751)|Fexofenadine(DB00950)|Flunarizine(DB04841)|Histamine Phosphate(DB00667)|Hydroxyzine(DB00557)|Ketotifen(DB00920)|Levocabastine(DB01106)|Loratadine(DB00455)|Maprotiline(DB00934)|Meclizine(DB00737)|Mequitazine(DB01071)|Methdilazine(DB00902)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Nedocromil(DB00716)|Olanzapine(DB00334)|Olopatadine(DB00768)|Orphenadrine(DB01173)|Pemirolast(DB00885)|Phenindamine(DB01619)|Pheniramine(DB01620)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Terfenadine(DB00342)|Thiethylperazine(DB00372)|Trazodone(DB00656)|Trimeprazine(DB01246)|Tripelennamine(DB00792)|Triprolidine(DB00427)|Ziprasidone(DB00246) ACACACATGGGGCCAGCGAGA 0.552000 29 83 0 0 1 0 0 SALL1 6299 broad.mit.edu 37 16 51173575 51173575 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr16:51173575G>A ENST00000440970.1 - 2 2698 c.2267C>T c.(2266-2268)tCt>tTt p.S756F SALL1_ENST00000251020.4_Missense_Mutation_p.S853F|SALL1_ENST00000566102.1_Intron|SALL1_ENST00000541611.1_Intron NM_001127892.1 NP_001121364.1 Q9NSC2 SALL1_HUMAN spalt-like transcription factor 1 853 adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development chromocenter|cytoplasm|heterochromatin|nucleus beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3) 126 all_cancers(37;0.0322) COAD - Colon adenocarcinoma(2;0.24) CAAAGGCGAAGAGGATAAGCT 0.522000 62 67 0 0 1 0 0 NPAP1 23742 broad.mit.edu 37 15 24922620 24922620 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr15:24922620C>T ENST00000329468.2 + 1 2080 c.1606C>T c.(1606-1608)Cct>Tct p.P536S NM_018958.2 NP_061831.2 nuclear pore associated protein 1 TCTTCCAGTCCCTTCCACCGG 0.527000 90 213 0 0 1 0 0 TDP1 55775 broad.mit.edu 37 14 90485751 90485751 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr14:90485751C>T ENST00000335725.4 + 15 1883 c.1633C>T c.(1633-1635)Cct>Tct p.P545S TDP1_ENST00000555880.1_Missense_Mutation_p.P545S|TDP1_ENST00000357382.3_Missense_Mutation_p.P306S|TDP1_ENST00000393454.2_Missense_Mutation_p.P545S|TDP1_ENST00000393452.3_Missense_Mutation_p.P545S NM_018319.3 NP_060789.2 Q9NUW8 TYDP1_HUMAN tyrosyl-DNA phosphodiesterase 1 545 cell death|double-strand break repair|single strand break repair cytoplasm|nucleus 3'-tyrosyl-DNA phosphodiesterase activity|double-stranded DNA binding|exonuclease activity|protein binding|single-stranded DNA binding NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|urinary_tract(1) 25 all_cancers(154;0.185) COAD - Colon adenocarcinoma(157;0.23) CCTTTTCCTCCCTTCAGCATT 0.512000 Repair of DNA-protein crosslinks 16 29 0 0 1 0 0 FFAR3 2865 broad.mit.edu 37 19 35850389 35850389 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:35850389C>T ENST00000327809.4 + 2 798 c.597C>T c.(595-597)atC>atT p.I199I FFAR3_ENST00000594310.1_Silent_p.I199I NM_005304.3 NP_005295.1 O14843 FFAR3_HUMAN free fatty acid receptor 3 199 integral to plasma membrane G-protein coupled receptor activity|lipid binding endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|stomach(1) 17 all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162) Epithelial(14;1.29e-19)|OV - Ovarian serous cystadenocarcinoma(14;4.63e-18)|all cancers(14;5.19e-17)|LUSC - Lung squamous cell carcinoma(66;0.0221) CGCTGATCATCACCAGCTACT 0.662000 26 39 0 0 1 0 0 FHDC1 85462 broad.mit.edu 37 4 153896524 153896524 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:153896524C>T ENST00000511601.1 + 12 2269 c.2081C>T c.(2080-2082)tCc>tTc p.S694F FHDC1_ENST00000260008.3_Missense_Mutation_p.S694F Q9C0D6 FHDC1_HUMAN FH2 domain containing 1 694 actin cytoskeleton organization actin binding ARFIP1/FHDC1(2) NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 43 all_hematologic(180;0.093) GAGGAGACCTCCCAGCTGACT 0.617000 24 64 0 0 1 0 0 GPR161 23432 broad.mit.edu 37 1 168066065 168066065 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:168066065G>A ENST00000367838.1 - 5 1093 c.780C>T c.(778-780)gtC>gtT p.V260V GPR161_ENST00000546300.1_Silent_p.V146V|GPR161_ENST00000367836.1_Silent_p.V128V|GPR161_ENST00000367835.1_Silent_p.V260V|GPR161_ENST00000539777.1_Silent_p.V182V|GPR161_ENST00000271357.5_Silent_p.V260V|GPR161_ENST00000361697.2_Silent_p.V260V|GPR161_ENST00000537209.1_Silent_p.V280V NM_001267611.1|NM_153832.2 NP_001254540.1|NP_722561.1 Q8N6U8 GP161_HUMAN G protein-coupled receptor 161 260 multicellular organismal development integral to membrane|plasma membrane G-protein coupled receptor activity breast(1)|endometrium(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|skin(1) 26 all_hematologic(923;0.215) TGGCCGAGTAGACCACACCCT 0.597000 139 143 0 0 1 0 0 GRID2 2895 broad.mit.edu 37 4 94436524 94436524 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:94436524G>A ENST00000282020.4 + 13 2413 c.2155G>A c.(2155-2157)Gag>Aag p.E719K GRID2_ENST00000510992.1_Missense_Mutation_p.E624K NM_001510.2 NP_001501.2 O43424 GRID2_HUMAN glutamate receptor, ionotropic, delta 2 719 glutamate signaling pathway cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 Hepatocellular(203;0.114)|all_hematologic(202;0.177) OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191) L-Glutamic Acid(DB00142) CAATGGATCGGAGAACAATGT 0.473000 28 70 0 0 1 0 0 FAM65C 140876 broad.mit.edu 37 20 49214154 49214154 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr20:49214154C>T ENST00000327979.2 - 14 2152 c.1741G>A c.(1741-1743)Gat>Aat p.D581N FAM65C_ENST00000045083.2_Missense_Mutation_p.D581N|FAM65C_ENST00000535356.1_Missense_Mutation_p.D585N Q96MK2 FA65C_HUMAN family with sequence similarity 65, member C 581 endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(1)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 GACAGCTCATCCAGGGCGAAG 0.652000 4 15 0 0 1 0 0 CSMD3 114788 broad.mit.edu 37 8 113349860 113349860 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:113349860G>A ENST00000297405.5 - 43 6997 c.6753C>T c.(6751-6753)ttC>ttT p.F2251F CSMD3_ENST00000352409.3_Silent_p.F2181F|CSMD3_ENST00000343508.3_Silent_p.F2211F|CSMD3_ENST00000455883.2_Silent_p.F2147F NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 2251 Sushi 12. integral to membrane|plasma membrane breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 TGTATCCTGGGAAACATTCAA 0.413000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 34 92 0 0 1 0 0 MYOM3 127294 broad.mit.edu 37 1 24408611 24408611 + Nonsense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:24408611C>T ENST00000330966.7 - 18 2325 c.2163G>A c.(2161-2163)tgG>tgA p.W721* RP11-293P20.4_ENST00000429191.1_RNA|MYOM3_ENST00000374434.3_Nonsense_Mutation_p.W720*|MYOM3_ENST00000329601.7_Nonsense_Mutation_p.W720*|MYOM3_ENST00000475306.1_5'UTR|RP11-293P20.2_ENST00000439239.2_RNA Q5VTT5 MYOM3_HUMAN myomesin 3 720 Fibronectin type-III 4. NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2) 68 Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153) TGGGGGGTTTCCACCCAATGA 0.582000 9 13 0 0 1 0 0 TMPRSS12 283471 broad.mit.edu 37 12 51279119 51279119 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:51279119C>T ENST00000551456.1 + 4 788 c.743C>T c.(742-744)cCt>cTt p.P248L TMPRSS12_ENST00000398458.3_Missense_Mutation_p.P248L Q86WS5 TMPSC_HUMAN transmembrane (C-terminal) protease, serine 12 248 Peptidase S1. proteolysis integral to membrane serine-type endopeptidase activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1) 18 GGAATAATTCCTAACACTTCA 0.363000 68 137 0 0 1 0 0 FCRL3 115352 broad.mit.edu 37 1 157665296 157665296 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:157665296G>A ENST00000368184.3 - 8 1525 c.1234C>T c.(1234-1236)Ccg>Tcg p.P412S FCRL3_ENST00000473231.1_5'UTR|RP11-367J7.3_ENST00000453692.1_RNA|FCRL3_ENST00000368186.5_Missense_Mutation_p.P412S NM_052939.3 NP_443171.2 Q96P31 FCRL3_HUMAN Fc receptor-like 3 412 Ig-like C2-type 5. integral to membrane|plasma membrane receptor activity p.P412S(2) autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2) 69 all_hematologic(112;0.0378) TACAGGATCGGGGGAGAGCCT 0.597000 68 84 0 0 1 0 0 LPAR3 23566 broad.mit.edu 37 1 85279710 85279710 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:85279710G>A ENST00000440886.1 - 2 919 c.881C>T c.(880-882)tCc>tTc p.S294F LPAR3_ENST00000491034.1_5'UTR|LPAR3_ENST00000370611.3_Missense_Mutation_p.S294F Q9UBY5 LPAR3_HUMAN lysophosphatidic acid receptor 3 294 G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission integral to plasma membrane|intracellular membrane-bounded organelle central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|urinary_tract(1) 24 GTCCTTGTAGGAGTAGATGAT 0.572000 71 117 0 0 1 0 0 BCAM 4059 broad.mit.edu 37 19 45317897 45317897 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:45317897G>A ENST00000391955.1 + 8 1002 c.958G>A c.(958-960)Ggg>Agg p.G320R BCAM_ENST00000270233.6_Missense_Mutation_p.G320R P50895 BCAM_HUMAN basal cell adhesion molecule (Lutheran blood group) 320 Ig-like C2-type 1. cell-matrix adhesion integral to plasma membrane laminin binding|laminin receptor activity central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 22 Lung NSC(12;0.000789)|all_lung(12;0.00218) Ovarian(192;0.0728)|all_neural(266;0.112) GAATCTCGAGGGGAACTTGAC 0.622000 29 72 0 0 1 0 0 NCKAP5 344148 broad.mit.edu 37 2 133489517 133489517 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:133489517C>T ENST00000409261.1 - 17 5609 c.5236G>A c.(5236-5238)Gag>Aag p.E1746K NCKAP5_ENST00000409213.1_Missense_Mutation_p.E427K|NCKAP5_ENST00000405974.3_Missense_Mutation_p.E427K|NCKAP5_ENST00000317721.6_Missense_Mutation_p.E1746K NM_207363.2 NP_997246.2 O14513 NCKP5_HUMAN NCK-associated protein 5 1746 protein binding NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 118 TCAGCGTCCTCTGGGGAGTCT 0.572000 17 37 0 0 1 0 0 ADAMTS5 11096 broad.mit.edu 37 21 28337977 28337977 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr21:28337977G>A ENST00000284987.5 - 1 855 c.734C>T c.(733-735)tCg>tTg p.S245L NM_007038.3 NP_008969.2 Q9UNA0 ATS5_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 5 245 proteolysis proteinaceous extracellular matrix integrin binding|metalloendopeptidase activity|zinc ion binding breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3) 72 CCCAGCGGGCGAGAGAGCGGA 0.741000 4 15 0 0 1 0 0 CPA2 1358 broad.mit.edu 37 7 129909541 129909541 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:129909541G>A ENST00000222481.4 + 3 241 c.186G>A c.(184-186)ggG>ggA p.G62G NM_001869.2 NP_001860.2 P48052 CBPA2_HUMAN carboxypeptidase A2 (pancreatic) 62 proteolysis|vacuolar protein catabolic process extracellular region|vacuole metallocarboxypeptidase activity|zinc ion binding central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 14 Melanoma(18;0.0435) CCACCCCAGGGGAGACAGCCC 0.507000 13 153 0 0 1 0 0 SCN11A 11280 broad.mit.edu 37 3 38991681 38991681 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:38991681G>A ENST00000302328.3 - 1 371 c.173C>T c.(172-174)gCc>gTc p.A58V SCN11A_ENST00000444237.2_Missense_Mutation_p.A58V|SCN11A_ENST00000456224.3_Missense_Mutation_p.A58V|SCN11A_ENST00000450244.1_Missense_Mutation_p.A58V NM_014139.2 NP_054858.2 Q9UI33 SCNBA_HUMAN sodium channel, voltage-gated, type XI, alpha subunit 58 response to drug voltage-gated sodium channel complex voltage-gated sodium channel activity NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3) 119 Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226) Cocaine(DB00907) CTTCCTGGAGGCCTTTAGGTC 0.498000 75 178 0 0 1 0 0 TPRX1 284355 broad.mit.edu 37 19 48306082 48306082 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:48306082G>A ENST00000535759.1 - 4 476 c.477C>T c.(475-477)atC>atT p.I159I TPRX1_ENST00000543508.1_Silent_p.I62I|TPRX1_ENST00000322175.3_Silent_p.I62I Q8N7U7 TPRX1_HUMAN tetra-peptide repeat homeobox 1 62 Gly-rich. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(5)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)|skin(1) 18 all_cancers(25;3.02e-09)|all_epithelial(76;7e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133) OV - Ovarian serous cystadenocarcinoma(262;0.000241)|all cancers(93;0.00036)|Epithelial(262;0.0127)|GBM - Glioblastoma multiforme(486;0.048) CCGCTGGAAGGATTCCCGAGG 0.726000 10 20 0 0 1 0 0 DMXL2 23312 broad.mit.edu 37 15 51783791 51783791 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr15:51783791C>T ENST00000251076.5 - 20 5224 c.4937G>A c.(4936-4938)cGa>cAa p.R1646Q DMXL2_ENST00000449909.3_Missense_Mutation_p.R1010Q|DMXL2_ENST00000543779.2_Missense_Mutation_p.R1646Q|RP11-707P17.1_ENST00000561007.1_RNA NM_001174116.1|NM_015263.3 NP_001167587.1|NP_056078.2 Q8TDJ6 DMXL2_HUMAN Dmx-like 2 1646 cell junction|synaptic vesicle membrane Rab GTPase binding breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 101 all cancers(107;0.00494) AATGCATCTTCGAAGCGTGTT 0.383000 13 123 0 0 1 0 0 KRT75 9119 broad.mit.edu 37 12 52824452 52824452 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:52824452G>A ENST00000252245.5 - 5 1128 c.908C>T c.(907-909)tCc>tTc p.S303F NM_004693.2 NP_004684.2 O95678 K2C75_HUMAN keratin 75 303 Linker 12.|Rod. keratin filament structural molecule activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(10)|prostate(1)|skin(1) 28 BRCA - Breast invasive adenocarcinoma(357;0.192) CAGCACCACGGATGTGTCACC 0.537000 57 140 0 0 1 0 0 TTLL2 83887 broad.mit.edu 37 6 167753919 167753919 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:167753919C>T ENST00000239587.5 + 3 619 c.531C>T c.(529-531)ttC>ttT p.F177F NM_031949.4 NP_114155.4 Q9BWV7 TTLL2_HUMAN tubulin tyrosine ligase-like family, member 2 177 TTL. protein modification process ATP binding|tubulin-tyrosine ligase activity central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 Breast(66;7.8e-06)|Ovarian(120;0.024) OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492) TGTACCAGTTCATCCCCCTGA 0.498000 40 59 0 0 1 0 0 TPGS1 91978 broad.mit.edu 37 19 519021 519021 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:519021C>T ENST00000359315.5 + 2 679 c.471C>T c.(469-471)ccC>ccT p.P157P NM_033513.2 NP_277048.2 Q6ZTW0 TPGS1_HUMAN tubulin polyglutamylase complex subunit 1 157 multicellular organismal development axon|centrosome|cilium axoneme|dendrite|flagellar axoneme|microtubule|microtubule basal body GCCAAGCCCCCGAGGAGGTGG 0.731000 6 11 0 0 1 0 0 ATP8A1 10396 broad.mit.edu 37 4 42424885 42424885 + Missense_Mutation SNP C C G TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:42424885C>G ENST00000381668.5 - 35 3475 c.3244G>C c.(3244-3246)Gat>Cat p.D1082H ATP8A1_ENST00000264449.10_Missense_Mutation_p.D1067H NM_006095.2 NP_006086.1 Q9Y2Q0 AT8A1_HUMAN ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1 1082 ATP biosynthetic process chromaffin granule membrane|integral to membrane|plasma membrane aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3) 51 Phosphatidylserine(DB00144) TGAACTTCATCGACCAATGTT 0.353000 74 154 0 0 1 0 0 HEG1 57493 broad.mit.edu 37 3 124731705 124731705 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:124731705C>T ENST00000311127.4 - 6 2785 c.2718G>A c.(2716-2718)gtG>gtA p.V906V NM_020733.1 NP_065784.1 Q9ULI3 HEG1_HUMAN heart development protein with EGF-like domains 1 906 extracellular region|integral to membrane calcium ion binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(24)|ovary(2)|urinary_tract(4) 47 CATCCACAATCACTCGGTTCC 0.478000 36 57 0 0 1 0 0 PCLO 27445 broad.mit.edu 37 7 82585021 82585021 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:82585021C>T ENST00000423517.2 - 5 5585 c.5248G>A c.(5248-5250)Gga>Aga p.G1750R PCLO_ENST00000333891.8_Missense_Mutation_p.G1750R NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 1681 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 TTGCTCTCTCCTTTTTTGTGA 0.473000 12 401 0 0 1 0 0 S1PR1 1901 broad.mit.edu 37 1 101704664 101704664 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:101704664G>A ENST00000305352.6 + 2 499 c.124G>A c.(124-126)Gag>Aag p.E42K S1PR1_ENST00000475821.1_3'UTR NM_001400.4 NP_001391.2 P21453 S1PR1_HUMAN sphingosine-1-phosphate receptor 1 42 cell adhesion integral to membrane lysosphingolipid and lysophosphatidic acid receptor activity NS(1)|autonomic_ganglia(1)|breast(1)|large_intestine(7)|lung(23)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4) 43 CGCGGACAAGGAGAACAGCAT 0.478000 OREG0013620 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 33 101 0 0 1 0 0 SOGA3 387104 broad.mit.edu 37 6 127796938 127796938 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:127796938G>A ENST00000556132.1 - 6 3097 c.2233C>T c.(2233-2235)Cgc>Tgc p.R745C SOGA3_ENST00000481848.2_Missense_Mutation_p.R745C|SOGA3_ENST00000465909.2_Missense_Mutation_p.R745C|SOGA3_ENST00000368268.2_Missense_Mutation_p.R745C|SOGA3_ENST00000525778.1_Missense_Mutation_p.R745C NM_001012279.2 NP_001012279.1 Q5TF21 CF174_HUMAN SOGA family member 3 745 integral to membrane GGGCTGCCGCGGATGCCCAGG 0.677000 105 61 0 0 1 0 0 LRP12 29967 broad.mit.edu 37 8 105544182 105544182 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:105544182G>A ENST00000276654.5 - 2 197 c.89C>T c.(88-90)gCt>gTt p.A30V LRP12_ENST00000424843.2_Intron NM_013437.4 NP_038465.1 Q9Y561 LRP12_HUMAN low density lipoprotein receptor-related protein 12 30 endocytosis|regulation of growth coated pit|integral to plasma membrane low-density lipoprotein receptor activity|protein binding NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 48 OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229) TTCTGCAAGAGCACCATTTCC 0.279000 36 105 0 0 1 0 0 QARS 5859 broad.mit.edu 37 3 49135647 49135647 + Missense_Mutation SNP C C A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:49135647C>A ENST00000306125.6 - 22 2466 c.2129G>T c.(2128-2130)gGa>gTa p.G710V QARS_ENST00000414533.1_Missense_Mutation_p.G699V P47897 SYQ_HUMAN glutaminyl-tRNA synthetase 710 glutaminyl-tRNA aminoacylation cytosol|mitochondrial matrix ATP binding|glutamine-tRNA ligase activity|protein binding breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1) 19 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) L-Glutamine(DB00130) ACTTAAAAATCCACCAGGCAC 0.552000 43 67 1.47197e-15 1.48432e-15 1 1 0 SMYD4 114826 broad.mit.edu 37 17 1703925 1703925 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:1703925G>A ENST00000305513.7 - 5 930 c.763C>T c.(763-765)Cca>Tca p.P255S NM_052928.2 NP_443160.2 Q8IYR2 SMYD4_HUMAN SET and MYND domain containing 4 255 zinc ion binding breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(5)|stomach(1) 21 AGCTCTCCTGGGAGAATATCT 0.512000 64 107 0 0 1 0 0 FOLH1 2346 broad.mit.edu 37 11 49208203 49208203 + Missense_Mutation SNP C C A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:49208203C>A ENST00000340334.7 - 6 955 c.587G>T c.(586-588)gGa>gTa p.G196V FOLH1_ENST00000256999.2_Missense_Mutation_p.G211V|FOLH1_ENST00000343844.4_5'UTR|FOLH1_ENST00000533034.1_Missense_Mutation_p.G196V|FOLH1_ENST00000356696.3_Missense_Mutation_p.G211V NM_001193471.1|NM_001193472.1 NP_001180400.1|NP_001180401.1 Q04609 FOLH1_HUMAN folate hydrolase (prostate-specific membrane antigen) 1 211 proteolysis cytoplasm|integral to plasma membrane|membrane fraction|nucleus carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 60 Capromab(DB00089)|L-Glutamic Acid(DB00142) TACCTTATTTCCTCTGAAAAC 0.323000 7 113 1.06961e-07 1.07491e-07 1 1 0 RIMKLA 284716 broad.mit.edu 37 1 42875728 42875728 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:42875728C>T ENST00000431473.3 + 4 684 c.555C>T c.(553-555)ccC>ccT p.P185P NM_173642.3 NP_775913.2 Q8IXN7 RIMKA_HUMAN ribosomal modification protein rimK-like family member A 185 ATP-grasp. protein modification process cytoplasm acid-amino acid ligase activity|ATP binding|metal ion binding NS(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 13 ACGATGTGCCCTACCTGTTCC 0.507000 12 237 0 0 1 0 0 CACNA1B 774 broad.mit.edu 37 9 140809127 140809127 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:140809127C>T ENST00000371372.1 + 5 789 c.644C>T c.(643-645)tCc>tTc p.S215F CACNA1B_ENST00000277549.5_5'UTR|CACNA1B_ENST00000277551.2_Missense_Mutation_p.S215F|CACNA1B_ENST00000371355.4_Missense_Mutation_p.S215F|CACNA1B_ENST00000371357.1_Missense_Mutation_p.S215F|CACNA1B_ENST00000371363.1_Missense_Mutation_p.S215F NM_000718.3|NM_001243812.1 NP_000709.1|NP_001230741.1 Q00975 CAC1B_HUMAN calcium channel, voltage-dependent, N type, alpha 1B subunit 215 membrane depolarization|synaptic transmission voltage-gated calcium channel complex ATP binding|protein C-terminus binding|voltage-gated calcium channel activity NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2) 80 all_cancers(76;0.166) OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476) Amlodipine(DB00381)|Gabapentin(DB00996) GTGCTCAAGTCCATCATGAAG 0.557000 14 26 0 0 1 0 0 CACNA1H 8912 broad.mit.edu 37 16 1270629 1270629 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr16:1270629G>A ENST00000348261.5 + 35 6945 c.6697G>A c.(6697-6699)Gag>Aag p.E2233K CACNA1H_ENST00000565831.1_Missense_Mutation_p.E2227K|CACNA1H_ENST00000358590.4_Missense_Mutation_p.E2227K NM_021098.2 NP_066921.2 O95180 CAC1H_HUMAN calcium channel, voltage-dependent, T type, alpha 1H subunit 2233 aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction voltage-gated calcium channel complex low voltage-gated calcium channel activity breast(4)|endometrium(5)|kidney(2)|lung(23) 34 Hepatocellular(780;0.00369) Flunarizine(DB04841)|Mibefradil(DB01388) GGACTCCCTGGAGCCCACAGA 0.746000 8 22 0 0 1 0 0 COL11A1 1301 broad.mit.edu 37 1 103491454 103491454 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:103491454C>T ENST00000358392.2 - 6 1152 c.835G>A c.(835-837)Gaa>Aaa p.E279K COL11A1_ENST00000353414.4_Intron|COL11A1_ENST00000512756.1_Intron|COL11A1_ENST00000370096.3_Intron NM_080629.2 NP_542196.2 P12107 COBA1_HUMAN collagen, type XI, alpha 1 279 Nonhelical region. collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception collagen type XI extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1) 258 all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181) Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248) TTGGATTTTTCCTTTGATTTA 0.338000 51 117 0 0 1 0 0 BCMO1 53630 broad.mit.edu 37 16 81293408 81293408 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr16:81293408C>T ENST00000258168.2 + 3 782 c.321C>T c.(319-321)tcC>tcT p.S107S BCMO1_ENST00000564552.1_Silent_p.S107S|BCMO1_ENST00000425577.2_Intron NM_017429.2 NP_059125.2 Q9HAY6 BCDO1_HUMAN beta-carotene 15,15'-monooxygenase 1 107 retinoid metabolic process|steroid metabolic process cytosol beta-carotene 15,15'-monooxygenase activity|metal ion binding|monooxygenase activity breast(2)|endometrium(1)|large_intestine(4)|lung(9)|prostate(3)|skin(3)|stomach(1) 23 ACATATTTTCCAAGTAACTGC 0.408000 6 80 0 0 1 0 0 TACC2 10579 broad.mit.edu 37 10 123988981 123988981 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:123988981C>T ENST00000369005.1 + 15 8357 c.8017C>T c.(8017-8019)Cta>Tta p.L2673L TACC2_ENST00000369004.3_Silent_p.L763L|TACC2_ENST00000368999.1_Silent_p.L763L|TACC2_ENST00000358010.1_Silent_p.L819L|TACC2_ENST00000515603.1_Intron|TACC2_ENST00000369001.1_Intron|TACC2_ENST00000260733.3_Silent_p.L751L|TACC2_ENST00000334433.3_Silent_p.L2673L|TACC2_ENST00000515273.1_Intron|TACC2_ENST00000513429.1_Silent_p.L819L|TACC2_ENST00000360561.3_Silent_p.L751L|TACC2_ENST00000369000.1_Intron|TACC2_ENST00000453444.2_Intron NM_206862.2 NP_996744.2 O95359 TACC2_HUMAN transforming, acidic coiled-coil containing protein 2 2673 microtubule organizing center|nucleus nuclear hormone receptor binding NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 83 all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197) GAACCCCCCACTATTCGCTCA 0.527000 19 500 0 0 1 0 0 ATP1A2 477 broad.mit.edu 37 1 160093813 160093813 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:160093813G>A ENST00000361216.3 + 5 551 c.462G>A c.(460-462)aaG>aaA p.K154K ATP1A2_ENST00000472488.1_3'UTR|ATP1A2_ENST00000392233.3_Silent_p.K154K NM_000702.3 NP_000693.1 P50993 AT1A2_HUMAN ATPase, Na+/K+ transporting, alpha 2 polypeptide 154 ATP biosynthetic process ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 69 all_cancers(52;1.11e-16)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246) AGAGCTCCAAGATCATGGATT 0.512000 32 106 0 0 1 0 0 OTOL1 131149 broad.mit.edu 37 3 161221643 161221643 + Nonsense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:161221643G>A ENST00000327928.4 + 4 1347 c.1347G>A c.(1345-1347)tgG>tgA p.W449* NM_001080440.1 NP_001073909.1 A6NHN0 OTOL1_HUMAN otolin 1 449 C1q. collagen central_nervous_system(2)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1) 27 CAAAAGATTGGAATGGGGTGT 0.443000 9 36 0 0 1 0 0 BRINP1 1620 broad.mit.edu 37 9 121976336 121976336 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:121976336C>T ENST00000265922.3 - 6 1244 c.783G>A c.(781-783)caG>caA p.Q261Q DBC1_ENST00000373964.2_Silent_p.Q261Q NM_014618.2 NP_055433.2 O60477 DBC1_HUMAN 261 cell cycle arrest|cell death cytoplasm protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(15)|liver(1)|lung(34)|ovary(3)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 83 ACTGGCTGTTCTGGCACAGGT 0.537000 46 73 0 0 1 0 0 PLEKHM1 9842 broad.mit.edu 37 17 43545804 43545804 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:43545804G>A ENST00000430334.3 - 5 1212 c.1079C>T c.(1078-1080)cCt>cTt p.P360L PLEKHM1_ENST00000421073.2_Missense_Mutation_p.P271L NM_014798.2 NP_055613.1 Q9Y4G2 PKHM1_HUMAN pleckstrin homology domain containing, family M (with RUN domain) member 1 360 intracellular signal transduction cytoplasm metal ion binding breast(1)|central_nervous_system(1)|endometrium(6)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 26 Renal(3;0.0405) TGCCTGGGCAGGAAGGGGCTC 0.632000 24 44 0 0 1 0 0 DCLK1 9201 broad.mit.edu 37 13 36424902 36424902 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr13:36424902G>A ENST00000379892.4 - 7 1258 c.1047C>T c.(1045-1047)cgC>cgT p.R349R DCLK1_ENST00000360631.3_Intron|DCLK1_ENST00000255448.4_Intron|DCLK1_ENST00000460982.1_5'UTR|DCLK1_ENST00000379893.1_Intron O15075 DCLK1_HUMAN doublecortin-like kinase 1 349 cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus integral to plasma membrane ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(1) 64 Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122) KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169) all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638) AAGAGAGGGGGCGGTACAGGT 0.483000 25 74 0 0 1 0 0 OR7E24 26648 broad.mit.edu 37 19 9361859 9361859 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:9361859G>A ENST00000456448.1 + 1 254 c.140G>A c.(139-141)gGg>gAg p.G47E NM_001079935.1 NP_001073404.1 Q6IFN5 O7E24_HUMAN olfactory receptor, family 7, subfamily E, member 24 47 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2) 16 GTCCTCGCTGGGCTGTTCCTG 0.577000 28 67 0 0 1 0 0 PKD1L1 168507 broad.mit.edu 37 7 47904832 47904832 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:47904832G>A ENST00000289672.2 - 26 4181 c.4131C>T c.(4129-4131)ctC>ctT p.L1377L NM_138295.3 NP_612152.1 Q8TDX9 PK1L1_HUMAN polycystic kidney disease 1 like 1 1377 REJ. cell-cell adhesion integral to membrane BBS9/PKD1L1(2) NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5) 142 AGAAGCTCACGAGGTCCCTCA 0.338000 15 29 0 0 1 0 0 TRMT10A 93587 broad.mit.edu 37 4 100478521 100478521 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:100478521C>T ENST00000273962.3 - 4 713 c.401G>A c.(400-402)cGg>cAg p.R134Q TRMT10A_ENST00000394877.3_Missense_Mutation_p.R134Q|TRMT10A_ENST00000394876.2_Missense_Mutation_p.R134Q NM_152292.4 NP_689505.1 tRNA methyltransferase 10 homolog A (S. cerevisiae) ATGCAGTGCCCGTCGGTTTTC 0.343000 21 47 0 0 1 0 0 IGKV1-16 28938 broad.mit.edu 37 2 89399808 89399808 + RNA SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:89399808G>A ENST00000479981.1 - 0 46 CAGGAGCTGAGCGAGGACTCT 0.537000 34 77 0 0 1 0 0 ADCY2 108 broad.mit.edu 37 5 7820724 7820724 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:7820724G>A ENST00000338316.4 + 24 3134 c.3045G>A c.(3043-3045)aaG>aaA p.K1015K ADCY2_ENST00000537121.1_Silent_p.K835K NM_020546.2 NP_065433.2 Q08462 ADCY2_HUMAN adenylate cyclase 2 (brain) 1015 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport cytoplasm|dendrite|integral to membrane|plasma membrane ATP binding|metal ion binding NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 119 GAGCTCAGAAGCCACAATATG 0.463000 22 24 0 0 1 0 0 BSND 7809 broad.mit.edu 37 1 55474154 55474154 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:55474154G>A ENST00000371265.4 + 4 1070 c.816G>A c.(814-816)agG>agA p.R272R NM_057176.2 NP_476517.1 Q8WZ55 BSND_HUMAN Bartter syndrome, infantile, with sensorineural deafness (Barttin) 272 basolateral plasma membrane|cytoplasm|integral to plasma membrane|protein complex cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 17 GGTACCCAAGGACAAAGGTGG 0.587000 23 43 0 0 1 0 0 KIAA1467 57613 broad.mit.edu 37 12 13208605 13208605 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:13208605C>T ENST00000197268.8 + 2 278 c.158C>T c.(157-159)cCt>cTt p.P53L NM_020853.1 NP_065904.1 A2RU67 K1467_HUMAN KIAA1467 53 integral to membrane NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(4) 36 Prostate(47;0.184) BRCA - Breast invasive adenocarcinoma(232;0.157) GGGAAGAGTCCTTTGGGAGAA 0.542000 44 79 0 0 1 0 0 POU6F2 11281 broad.mit.edu 37 7 39472743 39472743 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:39472743G>A ENST00000518318.2 + 7 1136 c.1094G>A c.(1093-1095)gGc>gAc p.G365D POU6F2_ENST00000403058.1_Missense_Mutation_p.G365D|POU6F2_ENST00000559001.1_Missense_Mutation_p.G310D P78424 PO6F2_HUMAN POU class 6 homeobox 2 365 Gln-rich. central nervous system development|ganglion mother cell fate determination|transcription from RNA polymerase II promoter|visual perception sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 42 GGCACTCAGGGCTTGCAAGTG 0.587000 24 70 0 0 1 0 0 DGKI 9162 broad.mit.edu 37 7 137263045 137263045 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:137263045G>A ENST00000453654.1 - 16 1308 c.769C>T c.(769-771)Cgt>Tgt p.R257C DGKI_ENST00000446122.1_Missense_Mutation_p.R557C|DGKI_ENST00000424189.2_Missense_Mutation_p.R557C|DGKI_ENST00000288490.5_Missense_Mutation_p.R557C O75912 DGKI_HUMAN diacylglycerol kinase, iota 557 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation nucleus|plasma membrane ATP binding|diacylglycerol kinase activity|metal ion binding breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 84 TTTCGAAAACGACTGTTGAAT 0.343000 34 65 0 0 1 0 0 OR2S2 56656 broad.mit.edu 37 9 35957445 35957445 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:35957445G>A ENST00000341959.2 - 1 706 c.651C>T c.(649-651)ttC>ttT p.F217F NM_019897.2 NP_063950.2 Q9NQN1 OR2S1_HUMAN olfactory receptor, family 2, subfamily S, member 2 217 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(8)|ovary(1)|skin(1)|stomach(1) 17 LUSC - Lung squamous cell carcinoma(32;0.00613)|STAD - Stomach adenocarcinoma(86;0.194) AGACATAGGAGAAAGAGATGA 0.512000 8 135 0 0 1 0 0 DSP 1832 broad.mit.edu 37 6 7580765 7580765 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:7580765G>A ENST00000379802.3 + 23 4683 c.4342G>A c.(4342-4344)Gag>Aag p.E1448K DSP_ENST00000418664.2_Intron NM_004415.2 NP_004406.2 P15924 DESP_HUMAN desmoplakin 1448 Central fibrous rod domain. cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural constituent of cytoskeleton biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5) 101 Ovarian(93;0.0584) all_hematologic(90;0.236) OV - Ovarian serous cystadenocarcinoma(45;0.000508) ACAGCAGCTGGAGGTTGAGCT 0.483000 50 126 0 0 1 0 0 FIGNL1 63979 broad.mit.edu 37 7 50513419 50513419 + Nonsense_Mutation SNP C C A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:50513419C>A ENST00000419119.1 - 2 3120 c.1567G>T c.(1567-1569)Gaa>Taa p.E523* FIGNL1_ENST00000395556.2_Nonsense_Mutation_p.E523*|FIGNL1_ENST00000433017.1_Nonsense_Mutation_p.E523*|FIGNL1_ENST00000356889.4_Nonsense_Mutation_p.E523* Q6PIW4 FIGL1_HUMAN fidgetin-like 1 523 ATP metabolic process|negative regulation of apoptosis|osteoblast differentiation|osteoblast proliferation|regulation of cell cycle cytoplasm|nucleus ATP binding|magnesium ion binding|nucleoside-triphosphatase activity p.E523*(1) endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1) 29 Glioma(55;0.08)|all_neural(89;0.245) Acute lymphoblastic leukemia(4;3.73e-08)|all_hematologic(4;7.51e-06) ACTAAAAATTCTGTTTTTATC 0.413000 55 128 6.4308e-24 6.50258e-24 1 1 0 KBTBD8 84541 broad.mit.edu 37 3 67054070 67054070 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:67054070G>A ENST00000295568.4 + 3 732 c.601G>A c.(601-603)Gaa>Aaa p.E201K KBTBD8_ENST00000469661.1_3'UTR|KBTBD8_ENST00000417314.2_Missense_Mutation_p.E227K|KBTBD8_ENST00000460576.1_Intron NM_032505.2 NP_115894.2 Q8NFY9 KBTB8_HUMAN kelch repeat and BTB (POZ) domain containing 8 227 BACK. breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(4)|ovary(2)|prostate(1) 20 Lung NSC(201;0.0765) BRCA - Breast invasive adenocarcinoma(55;6.02e-06)|KIRC - Kidney renal clear cell carcinoma(39;0.105)|Kidney(39;0.125) TGAACAGAATGAAAGAGAAGT 0.378000 30 79 0 0 1 0 0 GPR98 84059 broad.mit.edu 37 5 89925198 89925198 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:89925198C>T ENST00000405460.2 + 9 1777 c.1681C>T c.(1681-1683)Cct>Tct p.P561S NM_032119.3 NP_115495.3 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 561 cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6) 269 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) ACTTTACATTCCTGCTGGAGC 0.413000 28 43 0 0 1 0 0 SDK2 54549 broad.mit.edu 37 17 71395377 71395377 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:71395377G>A ENST00000392650.3 - 22 3023 c.3023C>T c.(3022-3024)tCt>tTt p.S1008F SDK2_ENST00000388726.3_Missense_Mutation_p.S1008F NM_001144952.1 NP_001138424.1 Q58EX2 SDK2_HUMAN sidekick cell adhesion molecule 2 1008 Fibronectin type-III 5. cell adhesion integral to membrane breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 86 CAAGGTCACAGAGCGGGGGCC 0.637000 5 88 0 0 1 0 0 FAM71A 149647 broad.mit.edu 37 1 212799613 212799613 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:212799613G>A ENST00000294829.3 + 1 1825 c.1394G>A c.(1393-1395)aGc>aAc p.S465N RP11-338C15.5_ENST00000427949.1_RNA NM_153606.3 NP_705834.2 Q8IYT1 FA71A_HUMAN family with sequence similarity 71, member A 465 breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(7)|liver(1)|lung(12)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 OV - Ovarian serous cystadenocarcinoma(81;0.00631)|all cancers(67;0.00981)|GBM - Glioblastoma multiforme(131;0.0715)|Epithelial(68;0.094) TCCTCATTCAGCCACAGAGCC 0.567000 52 65 0 0 1 0 0 KCNV1 27012 broad.mit.edu 37 8 110984929 110984929 + Missense_Mutation SNP G G C TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:110984929G>C ENST00000524391.1 - 3 1581 c.549C>G c.(547-549)gaC>gaG p.D183E KCNV1_ENST00000297404.1_Missense_Mutation_p.D183E Q6PIU1 KCNV1_HUMAN potassium channel, subfamily V, member 1 183 voltage-gated potassium channel complex ion channel inhibitor activity|potassium channel regulator activity|voltage-gated potassium channel activity breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(20)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 all_neural(195;0.219) OV - Ovarian serous cystadenocarcinoma(57;5.35e-13) CTTGGGAGAAGTCCTGTTCAC 0.463000 49 96 0 0 1 0 0 FLT1 2321 broad.mit.edu 37 13 28964036 28964036 + Silent SNP G G A rs146003506 TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr13:28964036G>A ENST00000282397.4 - 13 2117 c.1866C>T c.(1864-1866)acC>acT p.T622T FLT1_ENST00000541932.1_Silent_p.T622T NM_002019.4 NP_002010.2 P17948 VGFR1_HUMAN fms-related tyrosine kinase 1 622 Ig-like C2-type 6. cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway extracellular space|Golgi apparatus|integral to plasma membrane|nucleus ATP binding|growth factor binding|vascular endothelial growth factor receptor activity NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 115 Acute lymphoblastic leukemia(6;0.04) Lung SC(185;0.0262)|Breast(139;0.188) Colorectal(13;0.000674) all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207) Sunitinib(DB01268) CATTCATGATGGTAAGATTAA 0.413000 75 125 0 0 1 0 0 NLRP12 91662 broad.mit.edu 37 19 54327159 54327159 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:54327159C>T ENST00000324134.6 - 1 438 c.270G>A c.(268-270)caG>caA p.Q90Q NLRP12_ENST00000391775.3_Silent_p.Q90Q|NLRP12_ENST00000345770.5_Silent_p.Q90Q|NLRP12_ENST00000535162.1_Silent_p.Q90Q|NLRP12_ENST00000354278.3_Silent_p.Q90Q|NLRP12_ENST00000351894.4_Silent_p.Q90Q|NLRP12_ENST00000391773.1_Silent_p.Q90Q|NLRP12_ENST00000391772.1_Silent_p.Q90Q NM_001277126.1|NM_144687.2 NP_001264055.1|NP_653288.1 P59046 NAL12_HUMAN NLR family, pyrin domain containing 12 90 DAPIN. negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB cytoplasm ATP binding|caspase activator activity|protein binding NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 80 Ovarian(34;0.19) GBM - Glioblastoma multiforme(134;0.026) GGTCCTCTCTCTGTCCTCTCT 0.592000 66 160 0 0 1 0 0 PSD4 23550 broad.mit.edu 37 2 113940642 113940642 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:113940642C>T ENST00000245796.6 + 2 804 c.609C>T c.(607-609)tcC>tcT p.S203S PSD4_ENST00000441564.2_Silent_p.S203S NM_012455.2 NP_036587.2 Q8NDX1 PSD4_HUMAN pleckstrin and Sec7 domain containing 4 203 regulation of ARF protein signal transduction cytoplasm|plasma membrane ARF guanyl-nucleotide exchange factor activity cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 GCCTGCACTCCAGCCCACCTG 0.637000 19 51 0 0 1 0 0 FAM171B 165215 broad.mit.edu 37 2 187627529 187627529 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:187627529C>T ENST00000304698.5 + 8 2663 c.2460C>T c.(2458-2460)cgC>cgT p.R820R NM_177454.3 NP_803237.3 Q6P995 F171B_HUMAN family with sequence similarity 171, member B 820 integral to membrane DNA binding NS(1)|breast(6)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(22)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 54 GAGAGGAACGCCCACTGATTC 0.428000 32 57 0 0 1 0 0 TRANK1 9881 broad.mit.edu 37 3 36873929 36873929 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:36873929C>T ENST00000429976.2 - 21 7260 c.7013G>A c.(7012-7014)gGa>gAa p.G2338E TRANK1_ENST00000428977.2_Missense_Mutation_p.G1788E|TRANK1_ENST00000301807.6_Missense_Mutation_p.G1788E O15050 TRNK1_HUMAN tetratricopeptide repeat and ankyrin repeat containing 1 2338 DNA repair ATP binding|ATP-dependent DNA helicase activity|DNA binding NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 73 CCCTTCTATTCCTTTTATCCT 0.493000 59 111 0 0 1 0 0 MORC1 27136 broad.mit.edu 37 3 108788544 108788544 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:108788544C>T ENST00000232603.5 - 9 832 c.750G>A c.(748-750)atG>atA p.M250I MORC1_ENST00000483760.1_Missense_Mutation_p.M250I NM_014429.3 NP_055244.3 Q86VD1 MORC1_HUMAN MORC family CW-type zinc finger 1 250 cell differentiation|multicellular organismal development|spermatogenesis nucleus ATP binding|zinc ion binding breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3) 105 TGAATATTCTCATCCATGGGT 0.383000 38 72 0 0 1 0 0 PLEKHS1 79949 broad.mit.edu 37 10 115540387 115540387 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:115540387C>T ENST00000354462.3 + 6 602 c.444C>T c.(442-444)atC>atT p.I148I PLEKHS1_ENST00000361048.1_3'UTR|PLEKHS1_ENST00000369312.4_Silent_p.I316I|PLEKHS1_ENST00000369309.1_Silent_p.I232I pleckstrin homology domain containing, family S member 1 TCGGCAGGATCCCAAATTCAG 0.413000 29 93 0 0 1 0 0 TLR3 7098 broad.mit.edu 37 4 187004566 187004566 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:187004566G>A ENST00000296795.2 + 4 1830 c.1726G>A c.(1726-1728)Gag>Aag p.E576K TLR3_ENST00000504367.1_Missense_Mutation_p.E299K NM_003265.2 NP_003256.1 O15455 TLR3_HUMAN toll-like receptor 3 576 activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|defense response to bacterium|defense response to virus|detection of virus|hyperosmotic response|I-kappaB phosphorylation|inflammatory response|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of osteoclast differentiation|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|toll-like receptor 3 signaling pathway endoplasmic reticulum membrane|endosome membrane|integral to plasma membrane double-stranded RNA binding|transmembrane receptor activity breast(1)|endometrium(5)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 29 all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243) OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16) CGGCTTTGACGAGATCCCAGT 0.418000 42 87 0 0 1 0 0 PHB2 11331 broad.mit.edu 37 12 7077169 7077169 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:7077169G>A ENST00000535923.1 - 5 774 c.493C>T c.(493-495)Cgc>Tgc p.R165C PHB2_ENST00000399433.2_Missense_Mutation_p.R165C|PHB2_ENST00000542912.1_Missense_Mutation_p.R165C|PHB2_ENST00000440277.1_Missense_Mutation_p.R165C|PHB2_ENST00000546111.1_Intron NM_001144831.1 NP_001138303.1 Q99623 PHB2_HUMAN prohibitin 2 165 Necessary for transcriptional repression. negative regulation of transcription, DNA-dependent|transcription, DNA-dependent mitochondrial inner membrane|nucleus estrogen receptor binding|receptor activity ovary(2)|pancreas(1) 3 AGCTCCCGGCGGATCAACAGG 0.587000 5 126 0 0 1 0 0 PLCXD3 345557 broad.mit.edu 37 5 41382221 41382221 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:41382221C>T ENST00000377801.3 - 2 593 c.519G>A c.(517-519)gcG>gcA p.A173A PLCXD3_ENST00000328457.3_Silent_p.A173A Q63HM9 PLCX3_HUMAN phosphatidylinositol-specific phospholipase C, X domain containing 3 173 PI-PLC X-box. intracellular signal transduction|lipid catabolic process phospholipase C activity|signal transducer activity central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 37 GGGCAAAAATCGCTGGGCACA 0.428000 67 212 0 0 1 0 0 PDZD7 79955 broad.mit.edu 37 10 102782022 102782022 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:102782022G>A ENST00000370215.3 - 5 888 c.663C>T c.(661-663)tgC>tgT p.C221C NM_024895.4 NP_079171.1 Q9H5P4 PDZD7_HUMAN PDZ domain containing 7 221 PDZ 2. cilium|nucleus protein binding breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 Epithelial(162;6.98e-09)|all cancers(201;3.55e-07) TGAAGCCCAGGCAGAAGTCGT 0.572000 25 42 0 0 1 0 0 PPP3CA 5530 broad.mit.edu 37 4 102004362 102004362 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:102004362G>A ENST00000394854.3 - 7 1524 c.841C>T c.(841-843)Cac>Tac p.H281Y PPP3CA_ENST00000523694.2_Missense_Mutation_p.H214Y|PPP3CA_ENST00000394853.4_Missense_Mutation_p.H281Y|PPP3CA_ENST00000512215.1_Intron|PPP3CA_ENST00000507176.1_Missense_Mutation_p.H183Y|PPP3CA_ENST00000323055.6_Missense_Mutation_p.H281Y NM_000944.4 NP_000935.1 Q08209 PP2BA_HUMAN protein phosphatase 3, catalytic subunit, alpha isozyme 281 Catalytic. protein dephosphorylation calcineurin complex|cytosol|nucleus calcium ion binding|calmodulin binding breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|urinary_tract(1) 20 OV - Ovarian serous cystadenocarcinoma(123;6.79e-08) TGGGCTTCGTGGGCTCGGAGT 0.428000 6 482 0 0 1 0 0 OR1L4 254973 broad.mit.edu 37 9 125486815 125486815 + Missense_Mutation SNP C C A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:125486815C>A ENST00000259466.1 + 1 547 c.547C>A c.(547-549)Cag>Aag p.Q183K NM_001005235.1 NP_001005235.1 Q8NGR5 OR1L4_HUMAN olfactory receptor, family 1, subfamily L, member 4 183 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|large_intestine(3)|lung(13)|prostate(1)|skin(1) 20 CTGTGACACCCAGCCTGTGCT 0.507000 16 397 9.22233e-05 9.25139e-05 1 1 0 HPS4 89781 broad.mit.edu 37 22 26849302 26849302 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr22:26849302G>A ENST00000398145.2 - 14 2640 c.2024C>T c.(2023-2025)cCt>cTt p.P675L HPS4_ENST00000402105.3_Missense_Mutation_p.P670L|HPS4_ENST00000398141.1_Missense_Mutation_p.P688L|HPS4_ENST00000493455.2_Intron|HPS4_ENST00000336873.5_Missense_Mutation_p.P675L NM_022081.4 NP_071364.4 Q9NQG7 HPS4_HUMAN Hermansky-Pudlak syndrome 4 675 lysosome organization|positive regulation of eye pigmentation|protein stabilization|protein targeting lysosome|melanosome|membrane fraction|platelet dense granule protein homodimerization activity breast(2)|endometrium(3)|kidney(5)|large_intestine(4)|lung(12)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 32 CCGTGCTGCAGGTGCCAGCTG 0.577000 Hermansky-Pudlak syndrome 83 166 0 0 1 0 0 ACTL7B 10880 broad.mit.edu 37 9 111617631 111617631 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:111617631C>T ENST00000374667.3 - 1 1608 c.580G>A c.(580-582)Ggg>Agg p.G194R NM_006686.3 NP_006677.1 Q9Y614 ACL7B_HUMAN actin-like 7B 194 actin cytoskeleton|cytoplasm structural constituent of cytoskeleton endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 20 ACCACCAGCCCCGAGGTCTTG 0.662000 26 53 0 0 1 0 0 AHNAK2 113146 broad.mit.edu 37 14 105407589 105407589 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr14:105407589C>T ENST00000333244.5 - 7 14318 c.14199G>A c.(14197-14199)acG>acA p.T4733T AHNAK2_ENST00000557457.1_Intron NM_138420.2 NP_612429.2 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 4733 nucleus cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3) 33 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) ATAAAGGAATCGTGGAAAGAC 0.408000 29 58 0 0 1 0 0 KIF17 57576 broad.mit.edu 37 1 21016808 21016808 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:21016808G>A ENST00000247986.2 - 7 1564 c.1254C>T c.(1252-1254)gcC>gcT p.A418A KIF17_ENST00000400463.3_Silent_p.A418A|KIF17_ENST00000375044.1_Silent_p.A318A|KIF17_ENST00000490034.1_5'UTR Q9P2E2 KIF17_HUMAN kinesin family member 17 418 microtubule-based movement|protein transport cytoplasm|microtubule ATP binding p.A418A(1) NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 50 all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209) CTTTCAGCCGGGCCAGGCGCT 0.562000 17 59 0 0 1 0 0 ZMYND8 23613 broad.mit.edu 37 20 45874893 45874893 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr20:45874893C>T ENST00000311275.7 - 14 2336 c.2083G>A c.(2083-2085)Gag>Aag p.E695K ZMYND8_ENST00000262975.4_Missense_Mutation_p.E695K|ZMYND8_ENST00000352431.2_Missense_Mutation_p.E715K|ZMYND8_ENST00000458360.2_Missense_Mutation_p.E690K|ZMYND8_ENST00000372023.3_Missense_Mutation_p.E690K|ZMYND8_ENST00000396281.4_Missense_Mutation_p.E695K|ZMYND8_ENST00000355972.4_Missense_Mutation_p.E695K|ZMYND8_ENST00000536340.1_Missense_Mutation_p.E722K|ZMYND8_ENST00000468376.2_5'UTR|ZMYND8_ENST00000540497.1_Missense_Mutation_p.E643K|ZMYND8_ENST00000471951.2_Missense_Mutation_p.E715K|ZMYND8_ENST00000360911.3_Missense_Mutation_p.E690K|ZMYND8_ENST00000446994.2_Missense_Mutation_p.E632K|ZMYND8_ENST00000461685.1_Missense_Mutation_p.E715K Q9ULU4 PKCB1_HUMAN zinc finger, MYND-type containing 8 695 protein binding|zinc ion binding NS(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|prostate(3)|skin(2)|urinary_tract(8) 62 Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154) GAATCCGTCTCATCTTTTCCC 0.498000 15 215 0 0 1 0 0 MAP4K4 9448 broad.mit.edu 37 2 102501657 102501657 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:102501657G>A ENST00000413150.2 + 25 2894 c.2839G>A c.(2839-2841)Gaa>Aaa p.E947K MAP4K4_ENST00000456652.1_Missense_Mutation_p.E831K|MAP4K4_ENST00000425019.1_Missense_Mutation_p.E1065K|MAP4K4_ENST00000324219.4_Missense_Mutation_p.E1113K|MAP4K4_ENST00000350198.4_Missense_Mutation_p.E951K|MAP4K4_ENST00000347699.4_Missense_Mutation_p.E1032K|MAP4K4_ENST00000302217.5_Missense_Mutation_p.E835K|MAP4K4_ENST00000350878.4_Missense_Mutation_p.E1072K NM_001242560.1|NM_004834.4 NP_001229489.1|NP_004825.3 O95819 M4K4_HUMAN mitogen-activated protein kinase kinase kinase kinase 4 1032 CNH.|Mediates interaction with RAP2A. intracellular protein kinase cascade|regulation of JNK cascade|response to stress cytoplasm ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 AGTAAAATATGAAAGAATCAA 0.363000 5 15 0 0 1 0 0 ICK 22858 broad.mit.edu 37 6 52902771 52902771 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:52902771G>A ENST00000356971.3 - 4 611 c.122C>T c.(121-123)tCc>tTc p.S41F ICK_ENST00000350082.5_Missense_Mutation_p.S41F NM_016513.4 NP_057597.2 Q9UPZ9 ICK_HUMAN intestinal cell (MAK-like) kinase 41 Protein kinase. intracellular protein kinase cascade|multicellular organismal development cytosol|nucleus ATP binding|cyclin-dependent protein kinase activity|magnesium ion binding breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(3)|stomach(1) 31 Lung NSC(77;0.103) TTCCTCCCAGGAATAAAATTT 0.303000 19 42 0 0 1 0 0 NBPF10 100132406 broad.mit.edu 37 1 145303970 145303970 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:145303970C>T ENST00000342960.5 + 9 1402 c.1367C>T c.(1366-1368)tCa>tTa p.S456L RP11-458D21.5_ENST00000468030.1_3'UTR|NBPF10_ENST00000369338.1_Missense_Mutation_p.S185L|NBPF10_ENST00000369339.2_Missense_Mutation_p.S185L NM_001039703.4 NP_001034792.4 A6NDV3 A6NDV3_HUMAN neuroblastoma breakpoint family, member 10 456 NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2) 73 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) GTGCAGAAATCATCTGCCCCC 0.438000 47 339 0 0 1 0 0 SLC34A2 10568 broad.mit.edu 37 4 25674822 25674822 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:25674822G>A ENST00000382051.3 + 10 1212 c.1162G>A c.(1162-1164)Ggc>Agc p.G388S SLC34A2_ENST00000503434.1_Missense_Mutation_p.G387S|SLC34A2_ENST00000504570.1_Missense_Mutation_p.G387S NM_001177998.1|NM_006424.2 NP_001171469.1|NP_006415.2 O95436 NPT2B_HUMAN solute carrier family 34 (type II sodium/phosphate contransporter), member 2 388 cellular phosphate ion homeostasis apical plasma membrane|brush border membrane|integral to plasma membrane phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity SLC34A2/ROS1(14) breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4) 41 Breast(46;0.0503) CAAGATCCTGGGCTCTGTGCT 0.532000 T ROS1 NSCLC 23 82 0 0 1 0 0 DYSF 8291 broad.mit.edu 37 2 71780302 71780302 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:71780302C>T ENST00000258104.3 + 20 2191 c.1914C>T c.(1912-1914)agC>agT p.S638S DYSF_ENST00000409651.1_Silent_p.S670S|DYSF_ENST00000410041.1_Silent_p.S656S|DYSF_ENST00000394120.2_Silent_p.S639S|DYSF_ENST00000429174.2_Silent_p.S638S|DYSF_ENST00000409366.1_Silent_p.S639S|DYSF_ENST00000409744.1_Silent_p.S625S|DYSF_ENST00000409582.3_Silent_p.S655S|DYSF_ENST00000409762.1_Silent_p.S655S|DYSF_ENST00000413539.2_Silent_p.S669S|DYSF_ENST00000410020.3_Silent_p.S656S NM_001130976.1|NM_003494.3 NP_001124448.1|NP_003485.1 O75923 DYSF_HUMAN dysferlin 638 cytoplasmic vesicle membrane|integral to membrane|sarcolemma calcium-dependent phospholipid binding autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2) 111 CTCAGTACAGCCGTGCAGTCT 0.582000 43 90 0 0 1 0 0 CNR2 1269 broad.mit.edu 37 1 24201053 24201053 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:24201053G>A ENST00000536471.1 - 3 1313 c.1055C>T c.(1054-1056)tCc>tTc p.S352F CNR2_ENST00000374472.4_Missense_Mutation_p.S352F P34972 CNR2_HUMAN cannabinoid receptor 2 (macrophage) 352 behavior|G-protein signaling, coupled to cyclic nucleotide second messenger|immune response|inflammatory response dendrite|integral to plasma membrane|perikaryon cannabinoid receptor activity breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(9)|pancreas(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(2) 26 Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.00957)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.32e-24)|Colorectal(126;6.09e-08)|COAD - Colon adenocarcinoma(152;3.33e-06)|GBM - Glioblastoma multiforme(114;2.9e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00359)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.146) Nabilone(DB00486) TAGATCTCTGGAATCTGGCCA 0.507000 58 182 0 0 1 0 0 ASH2L 9070 broad.mit.edu 37 8 37986291 37986291 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:37986291C>T ENST00000343823.6 + 12 1658 c.1349C>T c.(1348-1350)cCt>cTt p.P450L ASH2L_ENST00000545394.1_Missense_Mutation_p.P311L|ASH2L_ENST00000521652.1_Missense_Mutation_p.P356L|ASH2L_ENST00000428278.2_Missense_Mutation_p.P356L|ASH2L_ENST00000250635.7_Missense_Mutation_p.P356L NM_004674.4 NP_004665.2 Q9UBL3 ASH2L_HUMAN ash2 (absent, small, or homeotic)-like (Drosophila) 450 B30.2/SPRY. hemopoiesis|histone H3-K4 methylation|positive regulation of cell proliferation|regulation of transcription, DNA-dependent|response to estrogen stimulus|transcription from RNA polymerase II promoter Set1C/COMPASS complex metal ion binding|protein binding|transcription regulatory region DNA binding NS(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|stomach(1) 19 Colorectal(12;0.000501) Lung NSC(58;0.0295)|all_lung(54;0.0413) CTTCAAGCTCCTTTAGGTTAT 0.398000 5 195 0 0 1 0 0 IGLV11-55 28770 broad.mit.edu 37 22 22556541 22556541 + RNA SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr22:22556541G>A ENST00000390286.2 + 0 367 CCAGGTGTACGAAAGTAGTGC 0.463000 39 92 0 0 1 0 0 BDP1 55814 broad.mit.edu 37 5 70808246 70808246 + Missense_Mutation SNP T T A rs143532580 by1000genomes TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:70808246T>A ENST00000358731.4 + 18 4501 c.4238T>A c.(4237-4239)aTt>aAt p.I1413N BDP1_ENST00000380675.2_5'UTR NM_018429.2 NP_060899.2 A6H8Y1 BDP1_HUMAN B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB 1413 regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter nucleoplasm DNA binding NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 72 Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50) TTTTCAGATATTAATTTAAGG 0.323000 4 105 0 0 1 0 0 TEX14 56155 broad.mit.edu 37 17 56646568 56646568 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:56646568G>A ENST00000389934.3 - 27 4108 c.3991C>T c.(3991-3993)Cta>Tta p.L1331L TEX14_ENST00000349033.5_Silent_p.L1291L|TEX14_ENST00000240361.8_Silent_p.L1337L NM_001201457.1|NM_198393.3 NP_001188386.1|NP_938207.2 Q8IWB6 TEX14_HUMAN testis expressed 14 1337 cytoplasm ATP binding|protein kinase activity breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3) 81 Medulloblastoma(34;0.127)|all_neural(34;0.237) TCATCAAGTAGCTCCTGAGAT 0.418000 31 81 0 0 1 0 0 HNRNPCL1 343069 broad.mit.edu 37 1 12908056 12908056 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:12908056C>T ENST00000317869.6 - 2 312 c.87G>A c.(85-87)aaG>aaA p.K29K NM_001013631.1|NM_001136561.2|NM_001146181.1 NP_001013653.1|NP_001130033.2|NP_001139653.1 heterogeneous nuclear ribonucleoprotein C-like 1 NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|stomach(2) 29 CATCCGATTTCTTGACAACAA 0.443000 36 240 0 0 1 0 0 MYOCD 93649 broad.mit.edu 37 17 12656563 12656563 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:12656563C>T ENST00000425538.1 + 10 2158 c.1958C>T c.(1957-1959)cCa>cTa p.P653L MYOCD_ENST00000343344.4_Missense_Mutation_p.P653L|MYOCD_ENST00000395988.1_Missense_Mutation_p.P557L NM_001146312.1|NM_153604.2 NP_001139784.1|NP_705832.1 Q8IZQ8 MYCD_HUMAN myocardin 647 cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation nucleus nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 70 UCEC - Uterine corpus endometrioid carcinoma (92;0.0969) AGTTTGCCCCCATCACCCAAC 0.587000 63 116 0 0 1 0 0 PLXNA4 91584 broad.mit.edu 37 7 131866250 131866250 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:131866250G>A ENST00000359827.3 - 18 4344 c.3382C>T c.(3382-3384)Ctg>Ttg p.L1128L PLXNA4_ENST00000321063.4_Silent_p.L1128L Q9HCM2 PLXA4_HUMAN plexin A4 1128 IPT/TIG 3. integral to membrane|intracellular|plasma membrane NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1) 45 AGGATGAGCAGGGACTGGACG 0.602000 55 241 0 0 1 0 0 SCN8A 6334 broad.mit.edu 37 12 52188400 52188400 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:52188400C>T ENST00000354534.5 + 26 4948 c.4770C>T c.(4768-4770)ttC>ttT p.F1590F SCN8A_ENST00000545061.1_Silent_p.F1549F NM_001177984.2|NM_014191.3 NP_001171455.1|NP_055006.1 Q9UQD0 SCN8A_HUMAN sodium channel, voltage gated, type VIII, alpha subunit 1590 axon guidance|myelination|peripheral nervous system development cytoplasmic membrane-bounded vesicle|node of Ranvier ATP binding|voltage-gated sodium channel activity breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 55 BRCA - Breast invasive adenocarcinoma(357;0.181) Lamotrigine(DB00555) TCTTCGACTTCGTGGTAGTCA 0.498000 9 30 0 0 1 0 0 VWCE 220001 broad.mit.edu 37 11 61026454 61026454 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:61026454G>A ENST00000335613.5 - 20 2947 c.2561C>T c.(2560-2562)gCc>gTc p.A854V VWCE_ENST00000535710.1_Missense_Mutation_p.A319V NM_152718.2 NP_689931.2 Q96DN2 VWCE_HUMAN von Willebrand factor C and EGF domains 854 Pro-rich. extracellular region calcium ion binding biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 37 TAGAGTGGGGGCTCCTGGAGG 0.652000 26 38 0 0 1 0 0 EPHB3 2049 broad.mit.edu 37 3 184294774 184294774 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:184294774C>T ENST00000330394.2 + 5 1609 c.1157C>T c.(1156-1158)gCc>gTc p.A386V EIF2B5_ENST00000444495.1_Intron NM_004443.3 NP_004434.2 P54753 EPHB3_HUMAN EPH receptor B3 386 Fibronectin type-III 1. integral to plasma membrane ATP binding|ephrin receptor activity breast(5)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 51 all_cancers(143;1.89e-10)|Ovarian(172;0.0339) Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22) GCTGGAGGGGCCTCAGCCTGC 0.637000 67 192 0 0 1 0 0 ACKR2 1238 broad.mit.edu 37 3 42906541 42906541 + Missense_Mutation SNP G G T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:42906541G>T ENST00000422265.1 + 3 722 c.547G>T c.(547-549)Gta>Tta p.V183L ACKR2_ENST00000273145.2_Missense_Mutation_p.V183L|KRBOX1_ENST00000426937.1_Intron|ACKR2_ENST00000442925.1_Missense_Mutation_p.V183L|CYP8B1_ENST00000437102.1_Intron|ACKR2_ENST00000471537.1_Intron NM_001296.4 NP_001287.2 atypical chemokine receptor 2 TATGGTCTTTGTACAGACACA 0.567000 62 135 3.86002e-21 3.90109e-21 1 1 0 ABT1 29777 broad.mit.edu 37 6 26598599 26598599 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:26598599C>T ENST00000274849.1 + 3 576 c.545C>T c.(544-546)aCc>aTc p.T182I NM_013375.3 NP_037507.1 Q9ULW3 ABT1_HUMAN activator of basal transcription 1 182 regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter nucleolus DNA binding|nucleotide binding|protein binding|RNA binding|transcription coactivator activity breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|urinary_tract(1) 11 AAGCGTGAGACCGACTTCTAT 0.617000 44 103 0 0 1 0 0 COL5A2 1290 broad.mit.edu 37 2 189929335 189929335 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:189929335C>T ENST00000374866.3 - 25 1938 c.1664G>A c.(1663-1665)gGa>gAa p.G555E NM_000393.3 NP_000384.2 P05997 CO5A2_HUMAN collagen, type V, alpha 2 555 axon guidance|collagen fibril organization|eye morphogenesis|skin development collagen type V extracellular matrix structural constituent NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3) 95 OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127) CCCCTGGCTTCCTTTGGGTCC 0.512000 36 72 0 0 1 0 0 TADA3 10474 broad.mit.edu 37 3 9828733 9828733 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:9828733G>A ENST00000343450.2 - 6 1314 c.767C>T c.(766-768)cCc>cTc p.P256L TADA3_ENST00000440161.1_Missense_Mutation_p.P256L|TADA3_ENST00000301964.2_Missense_Mutation_p.P256L NM_133480.1 NP_597814.1 O75528 TADA3_HUMAN transcriptional adaptor 3 256 estrogen receptor signaling pathway|histone H3 acetylation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter Ada2/Gcn5/Ada3 transcription activator complex|STAGA complex|transcription factor TFTC complex ligand-dependent nuclear receptor binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|skin(2)|upper_aerodigestive_tract(1) 16 GGCACCAAAGGGGCATCCATC 0.547000 OREG0015382 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 55 168 0 0 1 0 0 CNST 163882 broad.mit.edu 37 1 246755189 246755189 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:246755189C>T ENST00000366513.4 + 2 594 c.325C>T c.(325-327)Cct>Tct p.P109S CNST_ENST00000366512.3_Missense_Mutation_p.P109S|CNST_ENST00000483271.1_3'UTR NM_152609.2 NP_689822.2 Q6PJW8 CNST_HUMAN consortin, connexin sorting protein 109 positive regulation of Golgi to plasma membrane protein transport integral to membrane|plasma membrane|protein complex|trans-Golgi network|transport vesicle connexin binding breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|urinary_tract(2) 28 CAAAAAAATTCCTGGAAAAAG 0.393000 50 46 0 0 1 0 0 GALNTL6 442117 broad.mit.edu 37 4 173150813 173150813 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:173150813C>T ENST00000506823.1 + 3 802 c.145C>T c.(145-147)Cca>Tca p.P49S GALNTL6_ENST00000508122.1_Missense_Mutation_p.P32S NM_001034845.2 NP_001030017.2 Q49A17 GLTL6_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 6 49 Golgi membrane|integral to membrane metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(2)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(2) 45 ACAGACATTTCCACTGGGCCT 0.433000 11 26 0 0 1 0 0 MTO1 25821 broad.mit.edu 37 6 74190407 74190407 + Missense_Mutation SNP T T C TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:74190407T>C ENST00000498286.1 + 7 1416 c.1139T>C c.(1138-1140)gTt>gCt p.V380A MTO1_ENST00000370300.4_Missense_Mutation_p.V405A|MTO1_ENST00000370305.1_Missense_Mutation_p.V331A|MTO1_ENST00000415954.2_Missense_Mutation_p.V380A Q9Y2Z2 MTO1_HUMAN mitochondrial tRNA translation optimization 1 405 tRNA processing mitochondrion flavin adenine dinucleotide binding breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1) 27 GGCTACGGTGTTCAGTATGAT 0.428000 9 188 0 0 1 0 0 ANKRD34B 340120 broad.mit.edu 37 5 79855599 79855599 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:79855599C>T ENST00000338682.3 - 5 912 c.240G>A c.(238-240)caG>caA p.Q80Q NM_001004441.2 NP_001004441.2 A5PLL1 AN34B_HUMAN ankyrin repeat domain 34B 80 cytoplasm|nucleus NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1) 28 Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.113) OV - Ovarian serous cystadenocarcinoma(54;2.17e-46)|Epithelial(54;5.64e-41)|all cancers(79;3.24e-36) CAGATTTGTCCTGTATGTTGG 0.463000 75 157 0 0 1 0 0 OR10G9 219870 broad.mit.edu 37 11 123893761 123893761 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:123893761C>T ENST00000375024.1 + 1 42 c.42C>T c.(40-42)ggC>ggT p.G14G NM_001001953.1 NP_001001953.1 Q8NGN4 O10G9_HUMAN olfactory receptor, family 10, subfamily G, member 9 14 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(33)|prostate(2)|skin(4)|stomach(8)|urinary_tract(1) 61 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399) TCCTCACGGGCCTTCCCCATG 0.567000 18 185 0 0 1 0 0 EXD2 55218 broad.mit.edu 37 14 69701480 69701480 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr14:69701480C>T ENST00000409014.1 + 7 1063 c.406C>T c.(406-408)Cct>Tct p.P136S EXD2_ENST00000312994.5_Missense_Mutation_p.P261S|EXD2_ENST00000409018.3_Missense_Mutation_p.P261S|EXD2_ENST00000409675.1_Missense_Mutation_p.P136S|EXD2_ENST00000409242.1_Missense_Mutation_p.P136S|EXD2_ENST00000492815.1_Intron|EXD2_ENST00000409949.1_Missense_Mutation_p.P136S|EXD2_ENST00000449989.1_Missense_Mutation_p.P136S NM_001193360.1 NP_001180289.1 Q9NVH0 EXD2_HUMAN exonuclease 3'-5' domain containing 2 136 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process intracellular 3'-5' exonuclease activity|nucleic acid binding breast(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(7)|prostate(1)|urinary_tract(1) 14 TCTTGGATACCCTTTCTCTAG 0.448000 29 41 0 0 1 0 0 PPIB 5479 broad.mit.edu 37 15 64449109 64449109 + Splice_Site SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr15:64449109C>T ENST00000300026.3 - 4 562 c.e4-1 PPIB_ENST00000558492.1_Splice_Site|SNX22_ENST00000325881.4_3'UTR NM_000942.4 NP_000933.1 P23284 PPIB_HUMAN peptidylprolyl isomerase B (cyclophilin B) protein folding endoplasmic reticulum lumen|melanosome peptide binding|peptidyl-prolyl cis-trans isomerase activity|unfolded protein binding kidney(2)|large_intestine(2)|lung(6) 10 L-Proline(DB00172) ATGCTCTTTCCTGGGAAAAAA 0.577000 22 46 0 0 1 0 0 ADAMTSL4 54507 broad.mit.edu 37 1 150530500 150530500 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:150530500G>A ENST00000271643.4 + 14 2493 c.2257G>A c.(2257-2259)Gaa>Aaa p.E753K ADAMTSL4_ENST00000369039.5_Missense_Mutation_p.E776K|ADAMTSL4_ENST00000369038.2_Missense_Mutation_p.E753K|ADAMTSL4_ENST00000369041.5_Missense_Mutation_p.E753K NM_019032.4 NP_061905.2 Q6UY14 ATL4_HUMAN ADAMTS-like 4 753 TSP type-1 2. apoptosis|positive regulation of apoptosis metalloendopeptidase activity|protease binding breast(1)|cervix(1)|endometrium(6)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(3) 32 all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171) UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206) GTGCCGGCAGGAATTTGGGGG 0.701000 127 112 0 0 1 0 0 ARHGEF10L 55160 broad.mit.edu 37 1 17945879 17945879 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:17945879C>T ENST00000361221.3 + 10 1040 c.881C>T c.(880-882)tCg>tTg p.S294L ARHGEF10L_ENST00000375415.1_Missense_Mutation_p.S255L|ARHGEF10L_ENST00000375408.3_Missense_Mutation_p.S72L|ARHGEF10L_ENST00000452522.1_Missense_Mutation_p.S255L|ARHGEF10L_ENST00000375420.3_Missense_Mutation_p.S52L|ARHGEF10L_ENST00000434513.1_Missense_Mutation_p.S294L|ARHGEF10L_ENST00000167825.4_Missense_Mutation_p.S72L|ARHGEF10L_ENST00000469726.1_3'UTR NM_018125.3 NP_060595.3 Q9HCE6 ARGAL_HUMAN Rho guanine nucleotide exchange factor (GEF) 10-like 294 regulation of Rho protein signal transduction cytoplasm Rho guanyl-nucleotide exchange factor activity NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 43 Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204) GTCAGCGTTTCGGACATCAAG 0.657000 4 40 0 0 1 0 0 PER2 8864 broad.mit.edu 37 2 239161832 239161832 + Silent SNP G G C TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:239161832G>C ENST00000254657.3 - 19 3111 c.2832C>G c.(2830-2832)gcC>gcG p.A944A PER2_ENST00000254658.3_3'UTR|AC096574.4_ENST00000456601.1_RNA NM_022817.2 NP_073728.1 O15055 PER2_HUMAN period circadian clock 2 944 Pro-rich. circadian rhythm|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus protein binding|signal transducer activity NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 37 Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244) Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161) CAGGCTGTGAGGCAGAGGCCA 0.662000 7 101 0 0 1 0 0 ESYT3 83850 broad.mit.edu 37 3 138174089 138174089 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:138174089G>A ENST00000389567.4 + 3 609 c.423G>A c.(421-423)cgG>cgA p.R141R ESYT3_ENST00000289135.4_Silent_p.R141R NM_031913.3 NP_114119.2 A0FGR9 ESYT3_HUMAN extended synaptotagmin-like protein 3 141 integral to membrane|plasma membrane breast(1)|endometrium(5)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(1) 25 GCAAGTTCCGGGAGAAACTTG 0.527000 50 103 0 0 1 0 0 KIAA1217 56243 broad.mit.edu 37 10 24820801 24820801 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:24820801G>A ENST00000376451.2 + 10 2434 c.2174G>A c.(2173-2175)gGa>gAa p.G725E KIAA1217_ENST00000307544.6_Missense_Mutation_p.G725E|KIAA1217_ENST00000396446.1_Missense_Mutation_p.G725E|KIAA1217_ENST00000376452.3_Missense_Mutation_p.G1006E|KIAA1217_ENST00000430453.2_3'UTR|KIAA1217_ENST00000396445.1_Missense_Mutation_p.G725E|KIAA1217_ENST00000376462.1_Missense_Mutation_p.G962E|KIAA1217_ENST00000458595.1_Missense_Mutation_p.G1007E|KIAA1217_ENST00000376454.3_Missense_Mutation_p.G1042E Q5T5P2 SKT_HUMAN KIAA1217 1042 embryonic skeletal system development cytoplasm breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1) 70 AAGCTGGGGGGAAAGTCGCCC 0.517000 18 22 0 0 1 0 0 PXDNL 137902 broad.mit.edu 37 8 52322009 52322009 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:52322009C>T ENST00000356297.4 - 17 2275 c.2175G>A c.(2173-2175)gcG>gcA p.A725A PXDNL_ENST00000543296.1_Silent_p.A725A NM_144651.4 NP_653252.3 A1KZ92 PXDNL_HUMAN peroxidasin homolog (Drosophila)-like 725 hydrogen peroxide catabolic process extracellular space heme binding|peroxidase activity NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 48 all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015) CGCGGTACTTCGCATGGAAAC 0.657000 19 35 0 0 1 0 0 MCRS1 10445 broad.mit.edu 37 12 49958277 49958277 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:49958277G>A ENST00000550165.1 - 7 810 c.544C>T c.(544-546)Cct>Tct p.P182S MCRS1_ENST00000357123.4_Missense_Mutation_p.P195S|MCRS1_ENST00000546244.1_5'UTR|MCRS1_ENST00000343810.4_Missense_Mutation_p.P182S Q96EZ8 MCRS1_HUMAN microspherule protein 1 182 DNA recombination|DNA repair|protein modification process|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|Ino80 complex|MLL1 complex|nucleolus protein binding breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(11) 23 GAGATGACAGGATCGTAGAGC 0.602000 3 27 0 0 1 0 0 FTMT 94033 broad.mit.edu 37 5 121187886 121187886 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:121187886C>T ENST00000321339.1 + 1 237 c.228C>T c.(226-228)tcC>tcT p.S76S NM_177478.1 NP_803431.1 Q8N4E7 FTMT_HUMAN ferritin mitochondrial 76 Ferritin-like diiron. cellular iron ion homeostasis|iron ion transport|positive regulation of cell proliferation|positive regulation of lyase activity|positive regulation of oxidoreductase activity|positive regulation of transferase activity mitochondrion ferric iron binding|ferroxidase activity NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(4)|upper_aerodigestive_tract(1) 33 all_cancers(142;0.0124)|Prostate(80;0.0322) KIRC - Kidney renal clear cell carcinoma(527;0.206) Epithelial(69;0.000171)|OV - Ovarian serous cystadenocarcinoma(64;0.000188)|all cancers(49;0.0027) ACCCCGACTCCGAGGCTGCCA 0.682000 20 42 0 0 1 0 0 GPSM1 26086 broad.mit.edu 37 9 139230424 139230424 + Splice_Site SNP A A C TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:139230424A>C ENST00000440944.1 + 3 512 c.290_splice c.e3-1 p.T98_splice GPSM1_ENST00000392945.3_Splice_Site_p.T98_splice NM_001145638.1 NP_001139110.1 Q86YR5 GPSM1_HUMAN G-protein signaling modulator 1 98 Mediates association with membranes (By similarity). cell differentiation|nervous system development|signal transduction cytosol|endoplasmic reticulum membrane|Golgi membrane|plasma membrane binding|GTPase activator activity biliary_tract(1)|endometrium(1)|kidney(2)|lung(4)|upper_aerodigestive_tract(1) 9 Myeloproliferative disorder(178;0.0821) OV - Ovarian serous cystadenocarcinoma(145;2.39e-06)|Epithelial(140;3.24e-06) GCCATCCAGGACCATCGGTGA 0.682000 10 22 0 0 1 0 0 OR11G2 390439 broad.mit.edu 37 14 20666507 20666507 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr14:20666507C>T ENST00000357366.3 + 1 1013 c.1013C>T c.(1012-1014)gCt>gTt p.A338V NM_001005503.1 NP_001005503.1 Q8NGC1 O11G2_HUMAN olfactory receptor, family 11, subfamily G, member 2 338 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2) 22 all_cancers(95;0.00108) Epithelial(56;9.76e-07)|all cancers(55;5.61e-06) GBM - Glioblastoma multiforme(265;0.0144) ATGAGAAAAGCTCTGAAGAAA 0.348000 59 112 0 0 1 0 0 PRCC 5546 broad.mit.edu 37 1 156756518 156756518 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:156756518C>T ENST00000271526.4 + 3 907 c.635C>T c.(634-636)tCc>tTc p.S212F PRCC_ENST00000353233.3_Missense_Mutation_p.S212F|PRCC_ENST00000491853.1_3'UTR NM_005973.4 NP_005964.3 Q92733 PRCC_HUMAN papillary renal cell carcinoma (translocation-associated) 212 cell cycle|mitotic cell cycle checkpoint nucleus protein binding PRCC/TFE3(25) breast(1)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(5)|upper_aerodigestive_tract(1) 15 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) TCGGATGGCTCCCCTGATACT 0.557000 T TFE3 papillary renal 7 182 0 0 1 0 0 SFXN3 81855 broad.mit.edu 37 10 102794491 102794491 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:102794491C>T ENST00000393459.1 + 3 513 c.40C>T c.(40-42)Cgc>Tgc p.R14C SFXN3_ENST00000224807.5_Missense_Mutation_p.R18C Q9BWM7 SFXN3_HUMAN sideroflexin 3 18 iron ion homeostasis integral to membrane|mitochondrial membrane cation transmembrane transporter activity central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1) 9 Colorectal(252;0.234) Epithelial(162;6.98e-09)|all cancers(201;3.55e-07) CCAGGAACCTCGCTGGGACCA 0.542000 88 249 0 0 1 0 0 LPA 4018 broad.mit.edu 37 6 160977175 160977175 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:160977175C>T ENST00000447678.1 - 31 4975 c.4855G>A c.(4855-4857)Ggt>Agt p.G1619S LPA_ENST00000316300.5_Missense_Mutation_p.G1619S NM_005577.2 NP_005568.2 P08519 APOA_HUMAN lipoprotein, Lp(a) 4127 Kringle 15. blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis plasma lipoprotein particle apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1) 107 Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965) OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06) Aminocaproic Acid(DB00513) TGGCCATTACCATGGTAGCAC 0.488000 11 172 0 0 1 0 0 ARHGAP33 115703 broad.mit.edu 37 19 36271670 36271670 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:36271670C>T ENST00000007510.4 + 10 925 c.781C>T c.(781-783)Ccc>Tcc p.P261S ARHGAP33_ENST00000314737.5_Missense_Mutation_p.P261S|ARHGAP33_ENST00000378944.5_Missense_Mutation_p.P125S O14559 RHG33_HUMAN Rho GTPase activating protein 33 261 cell communication|protein transport|signal transduction intracellular GTPase activator activity|phosphatidylinositol binding|protein binding endometrium(7)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 37 TGCCGATGGCCCCCCATGTGG 0.642000 31 136 0 0 1 0 0 POU6F1 5463 broad.mit.edu 37 12 51585407 51585407 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:51585407G>A ENST00000389243.4 - 10 1471 c.532C>T c.(532-534)Cca>Tca p.P178S POU6F1_ENST00000333640.10_Missense_Mutation_p.P178S|POU6F1_ENST00000550824.1_Missense_Mutation_p.P178S Q14863 PO6F1_HUMAN POU class 6 homeobox 1 178 POU-specific. brain development|heart development|muscle organ development nucleus sequence-specific DNA binding transcription factor activity breast(2)|cervix(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1) 11 CTGTAGGCTGGACCTTCCGTT 0.602000 42 94 0 0 1 0 0 CD48 962 broad.mit.edu 37 1 160654584 160654584 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:160654584C>T ENST00000368045.3 - 2 517 c.478G>A c.(478-480)Gag>Aag p.E160K CD48_ENST00000368046.3_Intron P09326 CD48_HUMAN CD48 molecule 0 Ig-like C2-type 2. blood coagulation|defense response|leukocyte migration integral to plasma membrane|membrane raft protein binding breast(2)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|stomach(1) 10 all_cancers(52;2.18e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.0175) CTCTCCTCCTCCCCGAGAGTG 0.507000 23 105 0 0 1 0 0 ERBB4 2066 broad.mit.edu 37 2 212522689 212522689 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:212522689G>A ENST00000402597.1 - 16 1901 c.1902C>T c.(1900-1902)atC>atT p.I634I ERBB4_ENST00000436443.1_Intron|ERBB4_ENST00000342788.4_Intron Q15303 ERBB4_HUMAN v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4 634 cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway basolateral plasma membrane|cytoplasm|integral to membrane|nucleus ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 179 Renal(323;0.06)|Lung NSC(271;0.197) UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266) CCATCAGGCCGATGCAGTCTT 0.408000 TSP Lung(8;0.080) 13 38 0 0 1 0 0 PCNXL2 80003 broad.mit.edu 37 1 233275578 233275578 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:233275578C>T ENST00000258229.8 - 20 3775 c.3541G>A c.(3541-3543)Gaa>Aaa p.E1181K PCNXL2_ENST00000520463.1_5'UTR|PCNXL2_ENST00000488780.2_Missense_Mutation_p.E314K NM_014801.3 NP_055616.3 A6NKB5 PCX2_HUMAN pecanex-like 2 (Drosophila) 1181 integral to membrane NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 86 all_cancers(173;0.0347)|Prostate(94;0.137) TAGAGTCTTTCGAACCACATT 0.323000 14 38 0 0 1 0 0 PHOX2B 8929 broad.mit.edu 37 4 41749551 41749551 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:41749551G>A ENST00000226382.2 - 2 603 c.244C>T c.(244-246)Cct>Tct p.P82S NM_003924.3 NP_003915.2 Q99453 PHX2B_HUMAN paired-like homeobox 2b 82 positive regulation of transcription from RNA polymerase II promoter nuclear chromatin RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity autonomic_ganglia(7)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|skin(1)|urinary_tract(1) 30 AGTTTGTAAGGAACTAGAGTA 0.572000 """Mis, F""" neuroblastoma neuroblastoma congenital central hypoventilation syndrome Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome 28 77 0 0 1 0 0 OR2T34 127068 broad.mit.edu 37 1 248737485 248737485 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:248737485G>A ENST00000328782.2 - 1 595 c.574C>T c.(574-576)Ctc>Ttc p.L192F NM_001001821.1 NP_001001821.1 Q8NGX1 O2T34_HUMAN olfactory receptor, family 2, subfamily T, member 34 192 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(1)|large_intestine(6)|lung(28)|ovary(2)|skin(2)|stomach(3) 43 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) GAGCAGGAGAGCTTCAGCAGG 0.512000 15 214 0 0 1 0 0 CXorf21 80231 broad.mit.edu 37 X 30578057 30578057 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chrX:30578057G>A ENST00000378962.3 - 3 738 c.416C>T c.(415-417)tCa>tTa p.S139L NM_025159.2 NP_079435.1 Q9HAI6 CX021_HUMAN chromosome X open reading frame 21 139 kidney(1)|large_intestine(3)|lung(13)|ovary(1)|stomach(1)|urinary_tract(1) 20 TGTTGTCACTGAATTAATGGC 0.433000 43 21 0 0 1 0 0 SEMG1 6406 broad.mit.edu 37 20 43835703 43835703 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr20:43835703C>T ENST00000372781.3 + 1 66 c.9C>T c.(7-9)ccC>ccT p.P3P SEMG1_ENST00000244069.6_Silent_p.P3P NM_003007.3 NP_002998.1 semenogelin I cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1) 32 Myeloproliferative disorder(115;0.0122) AGATGAAGCCCAACATCATCT 0.473000 33 106 0 0 1 0 0 NACA 4666 broad.mit.edu 37 12 57110568 57110568 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:57110568G>A ENST00000454682.1 - 3 5027 c.4746C>T c.(4744-4746)ccC>ccT p.P1582P NACA_ENST00000546392.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000550952.1_Intron NM_001113203.2 NP_001106674.2 Q13765 NACA_HUMAN nascent polypeptide-associated complex alpha subunit 0 interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation nascent polypeptide-associated complex|nucleus DNA binding breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1) 10 TCACTGCTGGGGGACTGGAGG 0.572000 T BCL6 NHL 12 30 0 0 1 0 0 HIVEP1 3096 broad.mit.edu 37 6 12164002 12164002 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:12164002C>T ENST00000379388.2 + 9 7797 c.7465C>T c.(7465-7467)Ccc>Tcc p.P2489S HIVEP1_ENST00000541134.1_Missense_Mutation_p.P354S NM_002114.2 NP_002105.2 P15822 ZEP1_HUMAN human immunodeficiency virus type I enhancer binding protein 1 2489 transcription, DNA-dependent cytoplasm|nucleus DNA binding|protein binding|zinc ion binding NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 90 Breast(50;0.0639)|Ovarian(93;0.0816) all_hematologic(90;0.117) GCAGTCACTCCCCTCGTTAAG 0.517000 6 183 0 0 1 0 0 PIM3 415116 broad.mit.edu 37 22 50356590 50356590 + Missense_Mutation SNP T T G TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr22:50356590T>G ENST00000360612.4 + 6 1231 c.796T>G c.(796-798)Tgc>Ggc p.C266G NM_001001852.3 NP_001001852.2 Q86V86 PIM3_HUMAN pim-3 oncogene 266 Protein kinase. cell cycle|negative regulation of apoptosis|regulation of mitotic cell cycle ATP binding|protein binding|protein serine/threonine kinase activity all_cancers(38;5.53e-07)|all_epithelial(38;3.84e-06)|all_lung(38;0.00208)|Breast(42;0.0104)|Lung NSC(38;0.0199)|Ovarian(80;0.0907)|Lung SC(80;0.236) BRCA - Breast invasive adenocarcinoma(115;0.196)|LUAD - Lung adenocarcinoma(64;0.247) CCGCACAGAGTGCCAGCAGCT 0.711000 20 47 0 0 1 0 0 VPS13D 55187 broad.mit.edu 37 1 12343269 12343269 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:12343269G>A ENST00000358136.3 + 21 5240 c.5110G>A c.(5110-5112)Gaa>Aaa p.E1704K VPS13D_ENST00000356315.4_Missense_Mutation_p.E1704K NM_015378.2 NP_056193.2 Q5THJ4 VP13D_HUMAN vacuolar protein sorting 13 homolog D (S. cerevisiae) 1704 protein localization NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4) 130 Ovarian(185;0.249) Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209) AGCACAAAAAGAATACCTTTC 0.453000 58 133 0 0 1 0 0 WASF3 10810 broad.mit.edu 37 13 27259944 27259944 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr13:27259944G>A ENST00000361042.4 + 10 1687 c.1462G>A c.(1462-1464)Gac>Aac p.D488N WASF3_ENST00000335327.5_Missense_Mutation_p.D491N Q9UPY6 WASF3_HUMAN WAS protein family, member 3 491 actin filament polymerization cytoplasm|cytoskeleton actin binding breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|skin(2) 22 Colorectal(5;0.000247) Lung SC(185;0.0156)|Breast(139;0.147) all cancers(112;0.0114)|Epithelial(112;0.046)|OV - Ovarian serous cystadenocarcinoma(117;0.0547)|Lung(94;0.105)|LUSC - Lung squamous cell carcinoma(192;0.155) CGACTCTGACGACGACTCAGA 0.622000 21 30 0 0 1 0 0 TLR5 7100 broad.mit.edu 37 1 223284804 223284804 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:223284804G>A ENST00000540964.1 - 4 2031 c.1570C>T c.(1570-1572)Cat>Tat p.H524Y TLR5_ENST00000342210.6_Missense_Mutation_p.H524Y O60602 TLR5_HUMAN toll-like receptor 5 524 Missing (in 10% of the population; abolishes flagellin signaling; associated with resistance to SLEB1). cellular response to mechanical stimulus|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of toll-like receptor signaling pathway integral to membrane|plasma membrane interleukin-1 receptor binding|transmembrane receptor activity breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 32 GBM - Glioblastoma multiforme(131;0.0851) GCAGTCAGATGGCTAAATACT 0.408000 77 71 0 0 1 0 0 USP35 57558 broad.mit.edu 37 11 77921606 77921606 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:77921606C>T ENST00000529308.1 + 10 2966 c.2705C>T c.(2704-2706)tCc>tTc p.S902F USP35_ENST00000530535.1_3'UTR|USP35_ENST00000530267.1_Missense_Mutation_p.S470F|USP35_ENST00000526425.1_Missense_Mutation_p.S633F|USP35_ENST00000441408.2_Missense_Mutation_p.S488F NM_020798.2 NP_065849.1 Q9P2H5 UBP35_HUMAN ubiquitin specific peptidase 35 902 ubiquitin-dependent protein catabolic process binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(3)|urinary_tract(1) 23 all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152) OV - Ovarian serous cystadenocarcinoma(8;1.04e-25) TCCTTCTCTTCCTTCGAATCT 0.607000 19 210 0 0 1 0 0 LPAR2 9170 broad.mit.edu 37 19 19735202 19735202 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:19735202G>A ENST00000542587.1 - 6 1821 c.919C>T c.(919-921)Cgc>Tgc p.R307C LPAR2_ENST00000586703.1_Missense_Mutation_p.R307C|LPAR2_ENST00000407877.3_Missense_Mutation_p.R307C Q9HBW0 LPAR2_HUMAN lysophosphatidic acid receptor 2 307 activation of phospholipase C activity|elevation of cytosolic calcium ion concentration cell surface|integral to plasma membrane LIM domain binding|lipid binding breast(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1) 10 AGAAGGCGGCGGAAGGTGCGG 0.607000 45 81 0 0 1 0 0 OR8S1 341568 broad.mit.edu 37 12 48920047 48920047 + Silent SNP C C T rs139022158 byFrequency TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:48920047C>T ENST00000310194.1 + 1 633 c.633C>T c.(631-633)ttC>ttT p.F211F OR8S1_ENST00000551654.1_Intron NM_001005203.2 NP_001005203.2 Q8NH09 OR8S1_HUMAN olfactory receptor, family 8, subfamily S, member 1 211 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.F211F(2) central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|skin(4) 22 TGGGAAACTTCCTTTTGGTCT 0.537000 36 55 0 0 1 0 0 ZFPM2 23414 broad.mit.edu 37 8 106573624 106573624 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:106573624G>A ENST00000407775.2 + 4 585 c.335G>A c.(334-336)cGa>cAa p.R112Q ZFPM2_ENST00000520492.1_5'UTR|ZFPM2_ENST00000517361.1_5'UTR NM_012082.3 NP_036214.2 Q8WW38 FOG2_HUMAN zinc finger protein, FOG family member 2 112 blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis nucleoplasm DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding p.R112Q(1) NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 99 OV - Ovarian serous cystadenocarcinoma(57;8.28e-08) GATGGGGAACGAAAAATTCAG 0.438000 24 43 0 0 1 0 0 ZNF629 23361 broad.mit.edu 37 16 30795437 30795437 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr16:30795437G>A ENST00000262525.4 - 3 419 c.212C>T c.(211-213)tCt>tTt p.S71F NM_001080417.1 NP_001073886.1 Q9UEG4 ZN629_HUMAN zinc finger protein 629 71 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(3)|urinary_tract(1) 22 Colorectal(24;0.198) CTGGGGGACAGAGGGGTCCTG 0.612000 12 14 0 0 1 0 0 ACSS3 79611 broad.mit.edu 37 12 81647098 81647098 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:81647098C>T ENST00000548058.1 + 14 2642 c.1732C>T c.(1732-1734)Cat>Tat p.H578Y ACSS3_ENST00000548324.1_Missense_Mutation_p.H260Y|ACSS3_ENST00000261206.3_Missense_Mutation_p.H577Y Q9H6R3 ACSS3_HUMAN acyl-CoA synthetase short-chain family member 3 578 mitochondrion acetate-CoA ligase activity|ATP binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2) 51 AATCCTTTCCCATGGTACCGT 0.358000 71 176 0 0 1 0 0 YTHDC2 64848 broad.mit.edu 37 5 112927802 112927802 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:112927802C>T ENST00000161863.4 + 28 4352 c.4139C>T c.(4138-4140)cCc>cTc p.P1380L NM_022828.3 NP_073739.3 Q9H6S0 YTDC2_HUMAN YTH domain containing 2 1380 YTH. ATP binding|ATP-dependent helicase activity|nucleic acid binding NS(2)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(13)|lung(10)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 43 all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244) OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594) GAAAGCCTTCCCTTTCAATTT 0.423000 19 28 0 0 1 0 0 C1orf173 127254 broad.mit.edu 37 1 75038181 75038181 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:75038181C>T ENST00000326665.5 - 14 3431 c.3213G>A c.(3211-3213)agG>agA p.R1071R C1orf173_ENST00000433746.2_5'UTR NM_001002912.4 NP_001002912.4 Q5RHP9 CA173_HUMAN chromosome 1 open reading frame 173 1071 Glu-rich. NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5) 184 AGTCAGTTTTCCTCAGAGATG 0.408000 86 138 0 0 1 0 0 MYH13 8735 broad.mit.edu 37 17 10243512 10243512 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:10243512G>A ENST00000418404.3 - 17 2174 c.2011C>T c.(2011-2013)Cct>Tct p.P671S MYH13_ENST00000252172.4_Missense_Mutation_p.P671S|MYH13_ENST00000570743.1_Missense_Mutation_p.P671S|RP11-401O9.3_ENST00000577743.1_RNA Q9UKX3 MYH13_HUMAN myosin, heavy chain 13, skeletal muscle 671 Actin-binding (By similarity).|Myosin head-like. muscle contraction muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|microfilament motor activity breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2) 108 ACAAAGTGAGGGTGGGTGCTC 0.428000 10 19 0 0 1 0 0 C16orf82 162083 broad.mit.edu 37 16 27078357 27078357 + RNA SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr16:27078357G>A ENST00000505035.1 + 0 330 RP11-673P17.2_ENST00000565783.1_RNA Q7Z2V1 TNT_HUMAN TTTCTCGAGGGAGAAAAAGGG 0.587000 21 41 0 0 1 0 0 MS4A4A 51338 broad.mit.edu 37 11 60068516 60068516 + Missense_Mutation SNP A A G TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:60068516A>G ENST00000355131.3 + 5 539 c.316A>G c.(316-318)Act>Gct p.T106A MS4A4A_ENST00000395016.3_Missense_Mutation_p.T106A|MS4A4A_ENST00000337908.4_Missense_Mutation_p.T125A|MS4A4A_ENST00000532114.1_Missense_Mutation_p.T125A NM_024021.3 NP_076926.2 Q96JQ5 M4A4A_HUMAN membrane-spanning 4-domains, subfamily A, member 4A 125 integral to membrane receptor activity autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(12)|prostate(1)|skin(4) 23 AGGAATTAGAACTACAAAAGG 0.308000 17 40 0 0 1 0 0 LOC101929950 101929950 broad.mit.edu 37 17 36358999 36358999 + Missense_Mutation SNP A A C TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:36358999A>C ENST00000312412.4 - 6 691 c.692T>G c.(691-693)gTg>gGg p.V231G RP11-1407O15.2_ENST00000544906.1_Missense_Mutation_p.V76G kidney(1)|lung(3) 4 CTTCACTTCCACTAAATTTTC 0.348000 10 182 0 0 1 0 0 NCOA6 23054 broad.mit.edu 37 20 33329922 33329922 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr20:33329922G>A ENST00000374796.2 - 12 6708 c.4138C>T c.(4138-4140)Cct>Tct p.P1380S NCOA6_ENST00000359003.2_Missense_Mutation_p.P1380S Q14686 NCOA6_HUMAN nuclear receptor coactivator 6 1380 brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter transcription factor complex chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1) 107 TTGGCCAGAGGAGTGGGACTG 0.498000 36 70 0 0 1 0 0 ANXA10 11199 broad.mit.edu 37 4 169060666 169060666 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:169060666C>T ENST00000359299.3 + 3 316 c.130C>T c.(130-132)Ctg>Ttg p.L44L NM_007193.4 NP_009124.2 Q9UJ72 ANX10_HUMAN annexin A10 44 calcium ion binding|calcium-dependent phospholipid binding endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(2) 16 Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132) GBM - Glioblastoma multiforme(119;0.0325) GATCAACATTCTGACTCAGCG 0.413000 9 42 0 0 1 0 0 SNX29 92017 broad.mit.edu 37 16 12618679 12618679 + Nonsense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr16:12618679C>T ENST00000566228.1 + 20 2368 c.2299C>T c.(2299-2301)Cag>Tag p.Q767* SNX29_ENST00000306030.3_Nonsense_Mutation_p.Q382*|SNX29_ENST00000323433.4_Nonsense_Mutation_p.Q382* NM_032167.3 NP_115543.3 Q8TEQ0 SNX29_HUMAN sorting nexin 29 382 cell communication phosphatidylinositol binding endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1) 7 GACCCTCATCCAGCTGATGCC 0.562000 55 125 0 0 1 0 0 ABCC1 4363 broad.mit.edu 37 16 16215945 16215945 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr16:16215945C>T ENST00000399408.2 + 25 3709 c.3534C>T c.(3532-3534)ttC>ttT p.F1178F ABCC1_ENST00000349029.5_Silent_p.F1053F|ABCC1_ENST00000351154.5_Silent_p.F1109F|ABCC1_ENST00000399410.3_Silent_p.F1168F|ABCC1_ENST00000346370.5_Silent_p.F1112F|ABCC1_ENST00000345148.5_Silent_p.F1168F P33527 MRP1_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 1 1168 ABC transmembrane type-1 2. hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3) 56 Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138) TTCGAGCCTTCGAGGAGCAGG 0.612000 6 100 0 0 1 0 0 CCDC146 57639 broad.mit.edu 37 7 76903816 76903816 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:76903816G>A ENST00000285871.4 + 11 1414 c.1287G>A c.(1285-1287)atG>atA p.M429I CCDC146_ENST00000431197.1_Missense_Mutation_p.M143I|CCDC146_ENST00000415740.2_3'UTR NM_020879.2 NP_065930.2 Q8IYE0 CC146_HUMAN coiled-coil domain containing 146 429 breast(3)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(2) 34 all_cancers(73;0.128)|all_lung(88;0.0986)|all_epithelial(88;0.163)|Myeloproliferative disorder(862;0.205) TATCAGAAATGGAGTCTAAGT 0.303000 7 27 0 0 1 0 0 PSME4 23198 broad.mit.edu 37 2 54101586 54101586 + Missense_Mutation SNP A A T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:54101586A>T ENST00000404125.1 - 43 5045 c.4990T>A c.(4990-4992)Tac>Aac p.Y1664N PSME4_ENST00000476586.1_Intron|PSME4_ENST00000421748.2_Missense_Mutation_p.Y808N NM_014614.2 NP_055429.2 Q14997 PSME4_HUMAN proteasome (prosome, macropain) activator subunit 4 1664 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|spermatogenesis|viral reproduction nuclear speck|proteasome complex binding breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2) 60 Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181) GTCTGGAGGTAGGTCAGTACT 0.378000 9 77 0 0 1 0 0 KAT2B 8850 broad.mit.edu 37 3 20141413 20141413 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:20141413G>A ENST00000263754.4 + 4 1091 c.636G>A c.(634-636)aaG>aaA p.K212K KAT2B_ENST00000426228.1_3'UTR NM_003884.4 NP_003875.3 Q92831 KAT2B_HUMAN K(lysine) acetyltransferase 2B 212 cell cycle arrest|cellular response to insulin stimulus|chromatin remodeling|histone H3 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|negative regulation of cell proliferation|transcription initiation from RNA polymerase I promoter Ada2/Gcn5/Ada3 transcription activator complex|chromatin remodeling complex|PCAF complex cyclin-dependent protein kinase inhibitor activity|histone acetyltransferase activity|histone deacetylase binding|protein kinase binding|transcription coactivator activity|transcription factor binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 40 CTTTGGAAAAGAAACCCCCAT 0.323000 24 62 0 0 1 0 0 GDAP2 54834 broad.mit.edu 37 1 118449178 118449178 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:118449178G>A ENST00000369443.4 - 6 835 c.586C>T c.(586-588)Cat>Tat p.H196Y GDAP2_ENST00000369442.3_Missense_Mutation_p.H196Y NM_017686.3 NP_060156.1 Q9NXN4 GDAP2_HUMAN ganglioside induced differentiation associated protein 2 196 Macro. kidney(2)|large_intestine(3)|lung(9)|ovary(2) 16 all_cancers(81;0.0156)|all_lung(203;5.81e-05)|Lung NSC(69;0.000446)|all_epithelial(167;0.00295) Lung(183;0.0583)|LUSC - Lung squamous cell carcinoma(189;0.194) GTTTCCCCATGAATCTCTAGG 0.289000 74 130 0 0 1 0 0 TLN1 7094 broad.mit.edu 37 9 35710666 35710666 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:35710666G>A ENST00000314888.9 - 33 4571 c.4218C>T c.(4216-4218)gcC>gcT p.A1406A TLN1_ENST00000540444.1_Silent_p.A1406A NM_006289.3 NP_006280.3 Q9Y490 TLN1_HUMAN talin 1 1406 Interaction with SYNM. axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6) 85 all_epithelial(49;0.167) Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194) TGCCAGTCATGGCCTCGCCCA 0.562000 25 45 0 0 1 0 0 KCNH2 3757 broad.mit.edu 37 7 150642545 150642545 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:150642545C>T ENST00000392968.2 - 13 4220 c.3100G>A c.(3100-3102)Gaa>Aaa p.E1034K KCNH2_ENST00000262186.5_Missense_Mutation_p.E1130K|KCNH2_ENST00000330883.4_Missense_Mutation_p.E790K Q12809 KCNH2_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 2 1130 blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent voltage-gated potassium channel complex delayed rectifier potassium channel activity|two-component sensor activity NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1) 42 all_neural(206;0.219) OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661) GTGGGGCCTTCTTGGGGAAGC 0.677000 6 21 0 0 1 0 0 ANTXR2 118429 broad.mit.edu 37 4 80828617 80828617 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:80828617C>T ENST00000403729.2 - 17 1958 c.1433G>A c.(1432-1434)cGg>cAg p.R478Q ANTXR2_ENST00000404191.1_Missense_Mutation_p.R401Q|ANTXR2_ENST00000482406.1_5'UTR NM_058172.5 NP_477520.2 P58335 ANTR2_HUMAN anthrax toxin receptor 2 0 endoplasmic reticulum membrane|extracellular region|integral to membrane|plasma membrane metal ion binding|protein binding|receptor activity endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1) 13 GTTTATGCACCGGCCCTGAAG 0.363000 Juvenile Hyaline Fibromatosis 35 80 0 0 1 0 0 COLGALT2 23127 broad.mit.edu 37 1 183933063 183933063 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:183933063G>A ENST00000361927.4 - 6 1295 c.924C>T c.(922-924)aaC>aaT p.N308N COLGALT2_ENST00000367520.3_Silent_p.N45N|COLGALT2_ENST00000546159.1_Silent_p.N308N NM_015101.2 NP_055916.1 collagen beta(1-O)galactosyltransferase 2 CATGGATGAGGTTCTCGATGT 0.552000 29 93 0 0 1 0 0 ANO4 121601 broad.mit.edu 37 12 101413899 101413899 + Missense_Mutation SNP A A C TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:101413899A>C ENST00000392979.3 + 8 1078 c.717A>C c.(715-717)gaA>gaC p.E239D ANO4_ENST00000299222.9_5'UTR|ANO4_ENST00000538618.1_3'UTR|ANO4_ENST00000392977.3_Missense_Mutation_p.E274D NM_178826.3 NP_849148.2 Q32M45 ANO4_HUMAN anoctamin 4 274 chloride channel complex chloride channel activity NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1) 78 TAAAATATGAAGAAGGAAAAA 0.313000 HNSCC(74;0.22) 31 46 0 0 1 0 0 CASS4 57091 broad.mit.edu 37 20 55012399 55012399 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr20:55012399G>A ENST00000371336.3 + 2 417 c.216G>A c.(214-216)acG>acA p.T72T CASS4_ENST00000434344.1_Silent_p.T72T|CASS4_ENST00000360314.3_Silent_p.T72T NM_001164114.1|NM_020356.3 NP_001157586.1|NP_065089.2 Q9NQ75 CASS4_HUMAN Cas scaffolding protein family member 4 72 SH3. cell adhesion cytoplasm|cytoskeleton|focal adhesion two-component sensor activity breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(4)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1) 54 AAATCCTCACGGAGGTCGCTG 0.627000 23 52 0 0 1 0 0 TOX2 84969 broad.mit.edu 37 20 42694581 42694581 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr20:42694581C>T ENST00000358131.5 + 6 1344 c.1136C>T c.(1135-1137)cCg>cTg p.P379L TOX2_ENST00000341197.3_Missense_Mutation_p.P397L|TOX2_ENST00000423191.1_Missense_Mutation_p.P355L|TOX2_ENST00000435864.2_Missense_Mutation_p.P275L|TOX2_ENST00000372999.1_Missense_Mutation_p.P355L NM_001098798.1 NP_001092268.1 Q96NM4 TOX2_HUMAN TOX high mobility group box family member 2 379 Pro-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2) 26 Myeloproliferative disorder(115;0.00452) COAD - Colon adenocarcinoma(18;0.00189) CCCTCCTTCCCGCTCAGCCCC 0.721000 20 58 0 0 1 0 0 FBXO15 201456 broad.mit.edu 37 18 71740900 71740900 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr18:71740900G>A ENST00000269500.5 - 10 1436 c.1101C>T c.(1099-1101)tcC>tcT p.S367S FBXO15_ENST00000419743.2_Silent_p.S443S|FBXO15_ENST00000580806.1_5'UTR NM_152676.2 NP_689889.1 Q8NCQ5 FBX15_HUMAN F-box protein 15 367 autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2) 27 Esophageal squamous(42;0.103)|Prostate(75;0.173) BRCA - Breast invasive adenocarcinoma(31;0.143) GGCACACCGGGGAACTGAAAC 0.478000 92 189 0 0 1 0 0 PDE8B 8622 broad.mit.edu 37 5 76507023 76507023 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:76507023G>A ENST00000264917.5 + 1 318 c.273G>A c.(271-273)agG>agA p.R91R PDE8B_ENST00000346042.3_Silent_p.R91R|PDE8B_ENST00000342343.4_Silent_p.R91R|PDE8B_ENST00000333194.4_Silent_p.R91R|PDE8B_ENST00000340978.3_Silent_p.R91R NM_003719.3 NP_003710.1 O95263 PDE8B_HUMAN phosphodiesterase 8B 91 cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent cytosol 3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity GMDS/PDE8B(2) NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(15)|ovary(1)|prostate(2)|skin(3) 40 all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605) OV - Ovarian serous cystadenocarcinoma(54;2.21e-49)|Epithelial(54;5.82e-43)|all cancers(79;4.06e-38) CCACCAGCAGGGGCCGGAGGC 0.751000 10 11 0 0 1 0 0 C1orf106 55765 broad.mit.edu 37 1 200878401 200878401 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:200878401C>T ENST00000367342.4 + 8 1290 c.1090C>T c.(1090-1092)Ctt>Ttt p.L364F C1orf106_ENST00000413687.2_Missense_Mutation_p.L279F NM_018265.3 NP_060735.3 Q3KP66 CA106_HUMAN chromosome 1 open reading frame 106 364 endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(2) 21 CAGCCTGTGGCTTCTGGAGCC 0.637000 39 46 0 0 1 0 0 KCND2 3751 broad.mit.edu 37 7 120382645 120382645 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:120382645G>A ENST00000331113.4 + 4 2421 c.1456G>A c.(1456-1458)Gaa>Aaa p.E486K NM_012281.2 NP_036413.1 Q9NZV8 KCND2_HUMAN potassium voltage-gated channel, Shal-related subfamily, member 2 486 regulation of action potential|synaptic transmission cell surface|dendritic spine metal ion binding NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 75 all_neural(327;0.117) TCACTGCCTGGAAAAAACCAC 0.473000 46 165 0 0 1 0 0 CYP26B1 56603 broad.mit.edu 37 2 72359480 72359480 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:72359480G>A ENST00000001146.2 - 6 1618 c.1415C>T c.(1414-1416)cCc>cTc p.P472L CYP26B1_ENST00000412253.1_Missense_Mutation_p.P281L|CYP26B1_ENST00000546307.1_Missense_Mutation_p.P397L NM_001277742.1|NM_019885.2 NP_001264671.1|NP_063938.1 Q9NR63 CP26B_HUMAN cytochrome P450, family 26, subfamily B, polypeptide 1 472 cell fate determination|embryonic limb morphogenesis|male meiosis|negative regulation of retinoic acid receptor signaling pathway|proximal/distal pattern formation|retinoic acid catabolic process|spermatogenesis|xenobiotic metabolic process endoplasmic reticulum membrane|microsome electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity|retinoic acid binding breast(1)|kidney(3)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2) 28 GGTGATGCGGGGGAAGGTCCG 0.647000 12 28 0 0 1 0 0 KLHL22 84861 broad.mit.edu 37 22 20819517 20819517 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr22:20819517G>A ENST00000328879.4 - 4 896 c.740C>T c.(739-741)cCg>cTg p.P247L KLHL22_ENST00000440659.2_Missense_Mutation_p.P104L NM_032775.3 NP_116164.2 Q53GT1 KLH22_HUMAN kelch-like family member 22 247 cell division Cul3-RING ubiquitin ligase complex breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|skin(2)|upper_aerodigestive_tract(1) 20 Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173) TTCCATCAGCGGAAACCGCAC 0.607000 20 42 0 0 1 0 0 LIPC 3990 broad.mit.edu 37 15 58855831 58855831 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr15:58855831G>A ENST00000414170.3 + 9 1584 c.1297G>A c.(1297-1299)Gtc>Atc p.V433I LIPC_ENST00000433326.2_Missense_Mutation_p.V372I|LIPC_ENST00000356113.6_Missense_Mutation_p.V433I|LIPC_ENST00000299022.5_Missense_Mutation_p.V433I P11150 LIPC_HUMAN lipase, hepatic 433 PLAT. cholesterol homeostasis|chylomicron remnant clearance|fatty acid biosynthetic process|high-density lipoprotein particle remodeling|intermediate-density lipoprotein particle remodeling|low-density lipoprotein particle remodeling|phosphatidylcholine catabolic process|triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle remodeling high-density lipoprotein particle apolipoprotein binding|heparin binding|low-density lipoprotein particle binding|phospholipase activity|triglyceride lipase activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 Colorectal(260;0.215) GBM - Glioblastoma multiforme(80;0.00213)|all cancers(107;0.00548) CTGGGACACGGTCCAGACCAT 0.532000 25 51 0 0 1 0 0 ZBTB7C 201501 broad.mit.edu 37 18 45566797 45566797 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr18:45566797C>T ENST00000588982.1 - 3 1183 c.682G>A c.(682-684)Gaa>Aaa p.E228K ZBTB7C_ENST00000590800.1_Missense_Mutation_p.E228K|ZBTB7C_ENST00000332053.2_Missense_Mutation_p.E228K|ZBTB7C_ENST00000586438.1_Missense_Mutation_p.E228K|ZBTB7C_ENST00000535628.2_Missense_Mutation_p.E228K A1YPR0 ZBT7C_HUMAN zinc finger and BTB domain containing 7C 228 intracellular nucleic acid binding|zinc ion binding endometrium(8)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 23 AGCAGAGATTCGATGGAGAAG 0.592000 25 42 0 0 1 0 0 HIVEP1 3096 broad.mit.edu 37 6 12123532 12123532 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:12123532G>A ENST00000379388.2 + 4 3836 c.3504G>A c.(3502-3504)acG>acA p.T1168T NM_002114.2 NP_002105.2 P15822 ZEP1_HUMAN human immunodeficiency virus type I enhancer binding protein 1 1168 transcription, DNA-dependent cytoplasm|nucleus DNA binding|protein binding|zinc ion binding NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 90 Breast(50;0.0639)|Ovarian(93;0.0816) all_hematologic(90;0.117) TGAATAGAACGGGGAAGTCCG 0.527000 25 83 0 0 1 0 0 FAT1 2195 broad.mit.edu 37 4 187521410 187521410 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:187521410G>A ENST00000441802.2 - 22 11954 c.11745C>T c.(11743-11745)gcC>gcT p.A3915A NM_005245.3 NP_005236.2 Q14517 FAT1_HUMAN FAT atypical cadherin 1 3915 Laminin G-like. actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4) 228 TCACTTCCAGGGCCACTGCGT 0.512000 HNSCC(5;0.00058) 11 36 0 0 1 0 0 CLSTN3 9746 broad.mit.edu 37 12 7302208 7302208 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:7302208G>A ENST00000537408.1 + 13 2738 c.2200G>A c.(2200-2202)Gaa>Aaa p.E734K CLSTN3_ENST00000266546.6_Missense_Mutation_p.E722K Q9BQT9 CSTN3_HUMAN calsyntenin 3 722 homophilic cell adhesion endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane calcium ion binding NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(7)|prostate(1)|skin(1) 33 TCCCGAGCGGGAAAGCCTGCT 0.592000 7 61 0 0 1 0 0 FHL2 2274 broad.mit.edu 37 2 105979899 105979899 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:105979899C>T ENST00000336660.5 - 4 476 c.356G>A c.(355-357)gGg>gAg p.G119E AC012360.6_ENST00000457290.2_RNA|FHL2_ENST00000408995.1_Silent_p.R177R|FHL2_ENST00000322142.8_Silent_p.R177R|FHL2_ENST00000409807.1_Silent_p.R177R|FHL2_ENST00000409177.1_Silent_p.R293R|FHL2_ENST00000344213.4_Silent_p.R287R|FHL2_ENST00000358129.4_Silent_p.R177R|FHL2_ENST00000393352.3_Silent_p.R177R|FHL2_ENST00000393353.3_Silent_p.R177R Q14192 FHL2_HUMAN four and a half LIM domains 2 0 LIM zinc-binding 2. androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription, DNA-dependent|response to hormone stimulus|transcription, DNA-dependent actin cytoskeleton|focal adhesion|nucleus androgen receptor binding|identical protein binding|transcription coactivator activity|zinc ion binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1) 9 AGGGCTGCTCCCGGTAAGTGA 0.612000 6 21 0 0 1 0 0 ALK 238 broad.mit.edu 37 2 29917858 29917858 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:29917858G>A ENST00000389048.3 - 3 1716 c.810C>T c.(808-810)ttC>ttT p.F270F ALK_ENST00000431873.1_Intron NM_004304.4 NP_004295.2 Q9UM73 ALK_HUMAN anaplastic lymphoma receptor tyrosine kinase 270 MAM 1. protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9) NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2) 340 Acute lymphoblastic leukemia(172;0.155) Adenosine triphosphate(DB00171) GCTCACAGGGGAAGTCAAAGC 0.562000 """T, Mis, A""" """NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22""" """ALCL, NSCLC, Neuroblastoma""" neuroblastoma Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome 10 158 0 0 1 0 0 FLRT2 23768 broad.mit.edu 37 14 86089474 86089474 + Missense_Mutation SNP C C T rs35593477 TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr14:86089474C>T ENST00000330753.4 + 2 2383 c.1616C>T c.(1615-1617)tCc>tTc p.S539F FLRT2_ENST00000554746.1_Missense_Mutation_p.S539F NM_013231.4 NP_037363.1 O43155 FLRT2_HUMAN fibronectin leucine rich transmembrane protein 2 539 cell adhesion integral to plasma membrane|proteinaceous extracellular matrix protein binding, bridging|receptor signaling protein activity NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 73 BRCA - Breast invasive adenocarcinoma(234;0.0319) AGCATGGGCTCCCCCTTTCTG 0.582000 83 156 0 0 1 0 0 LCE3A 353142 broad.mit.edu 37 1 152595394 152595394 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:152595394G>A ENST00000335674.1 - 1 185 c.186C>T c.(184-186)tgC>tgT p.C62C NM_178431.1 NP_848518.1 Q5TA76 LCE3A_HUMAN late cornified envelope 3A 62 keratinization p.C62*(1) endometrium(1)|lung(5) 6 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) TGGAGCTCTGGCAACGGCAAC 0.652000 78 87 0 0 1 0 0 KEL 3792 broad.mit.edu 37 7 142658511 142658511 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:142658511C>T ENST00000355265.2 - 3 633 c.159G>A c.(157-159)ctG>ctA p.L53L KEL_ENST00000479768.2_5'UTR NM_000420.2 NP_000411.1 P23276 KELL_HUMAN Kell blood group, metallo-endopeptidase 53 proteolysis|vasoconstriction integral to membrane|plasma membrane metal ion binding|metalloendopeptidase activity|protein binding central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1) 60 Melanoma(164;0.059) GGCCCAAAATCAGGATAGCTG 0.562000 23 66 0 0 1 0 0 CYP2C8 1558 broad.mit.edu 37 10 96827292 96827292 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:96827292C>T ENST00000371270.3 - 2 419 c.325G>A c.(325-327)Gga>Aga p.G109R CYP2C8_ENST00000535898.1_Intron|CYP2C8_ENST00000539050.1_5'UTR NM_000770.3|NM_001198853.1|NM_001198855.1 NP_000761.3|NP_001185782.1|NP_001185784.1 P10632 CP2C8_HUMAN cytochrome P450, family 2, subfamily C, polypeptide 8 109 exogenous drug catabolic process|organic acid metabolic process|oxidative demethylation|xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|caffeine oxidase activity|electron carrier activity|heme binding|oxygen binding breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|skin(3) 21 Colorectal(252;0.0397) all cancers(201;6.21e-05) Aminophenazone(DB01424)|Amiodarone(DB01118)|Amodiaquine(DB00613)|Benzphetamine(DB00865)|Carbamazepine(DB00564)|Cerivastatin(DB00439)|Diclofenac(DB00586)|Fluvastatin(DB01095)|Fosphenytoin(DB01320)|Gemfibrozil(DB01241)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lovastatin(DB00227)|Midazolam(DB00683)|Montelukast(DB00471)|Nicardipine(DB00622)|Paclitaxel(DB01229)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Repaglinide(DB00912)|Rifampin(DB01045)|Rosiglitazone(DB00412)|Simvastatin(DB00641)|Sitagliptin(DB01261)|Tolbutamide(DB01124)|Torasemide(DB00214)|Tretinoin(DB00755)|Trimethoprim(DB00440)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zopiclone(DB01198) CTACCAAGTCCTTTAGTAATT 0.448000 60 115 0 0 1 0 0 ADAM33 80332 broad.mit.edu 37 20 3653220 3653220 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr20:3653220G>A ENST00000356518.2 - 13 1606 c.1365C>T c.(1363-1365)gcC>gcT p.A455A ADAM33_ENST00000379861.4_Silent_p.A455A|ADAM33_ENST00000466620.1_5'UTR|ADAM33_ENST00000350009.2_Silent_p.A455A NM_025220.2 NP_079496.1 Q9BZ11 ADA33_HUMAN ADAM metallopeptidase domain 33 455 Disintegrin. proteolysis integral to membrane metalloendopeptidase activity|zinc ion binding haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|skin(3) 29 GGGCGCACTGGGCCCCCGGGC 0.687000 44 57 0 0 1 0 0 ANGPTL1 9068 broad.mit.edu 37 1 178834569 178834569 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:178834569C>T ENST00000234816.2 - 3 790 c.343G>A c.(343-345)Gag>Aag p.E115K RALGPS2_ENST00000324778.4_Intron|RALGPS2_ENST00000367635.3_Intron|RALGPS2_ENST00000367634.2_Intron|ANGPTL1_ENST00000367629.1_Missense_Mutation_p.E115K NM_004673.3 NP_004664.1 O95841 ANGL1_HUMAN angiopoietin-like 1 115 extracellular space receptor binding breast(2)|endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1) 14 AGCTTTACCTCATTCACAATG 0.433000 73 93 0 0 1 0 0 OR14A16 284532 broad.mit.edu 37 1 247978629 247978629 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:247978629C>T ENST00000357627.1 - 1 402 c.403G>A c.(403-405)Gac>Aac p.D135N NM_001001966.1 NP_001001966.1 Q8NHC5 O14AG_HUMAN olfactory receptor, family 14, subfamily A, member 16 135 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.D135Y(1) breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(32)|skin(2)|stomach(1) 45 GTGCTCCTGTCCATGATGACA 0.517000 63 186 0 0 1 0 0 UGT2B10 7365 broad.mit.edu 37 4 69696436 69696436 + Nonsense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:69696436C>T ENST00000265403.7 + 6 1453 c.1426C>T c.(1426-1428)Cga>Tga p.R476* UGT2B10_ENST00000458688.2_Nonsense_Mutation_p.R392* NM_001075.4 NP_001066.1 P36537 UDB10_HUMAN UDP glucuronosyltransferase 2 family, polypeptide B10 476 lipid metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1) 29 CAAACATCTTCGAGTTGCAGC 0.468000 104 184 0 0 1 0 0 GKN2 200504 broad.mit.edu 37 2 69172563 69172563 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:69172563G>A ENST00000328895.4 - 6 600 c.492C>T c.(490-492)ggC>ggT p.G164G GKN2_ENST00000481498.1_3'UTR NM_182536.2 NP_872342.2 Q86XP6 GKN2_HUMAN gastrokine 2 164 extracellular region autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|urinary_tract(1) 15 CCTTTGCACAGCCTCCAGCAC 0.348000 55 159 0 0 1 0 0 SLC30A9 10463 broad.mit.edu 37 4 41992732 41992732 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:41992732C>T ENST00000264451.6 + 1 244 c.64C>T c.(64-66)Cgt>Tgt p.R22C NM_006345.3 NP_006336.3 Q6PML9 ZNT9_HUMAN solute carrier family 30 (zinc transporter), member 9 22 nucleotide-excision repair|zinc ion transport cytoskeleton|integral to membrane|nucleus cation transmembrane transporter activity|nucleotide binding|sequence-specific DNA binding transcription factor activity central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 GTGCCGGCTCCGTCTGCGATG 0.706000 18 49 0 0 1 0 0 SIPA1L2 57568 broad.mit.edu 37 1 232581507 232581507 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:232581507G>A ENST00000366630.1 - 10 3479 c.3121C>T c.(3121-3123)Cct>Tct p.P1041S SIPA1L2_ENST00000262861.4_Missense_Mutation_p.P1041S|SIPA1L2_ENST00000308942.4_Missense_Mutation_p.P115S Q9P2F8 SI1L2_HUMAN signal-induced proliferation-associated 1 like 2 1041 regulation of small GTPase mediated signal transduction intracellular GTPase activator activity NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 103 all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186) TCCACCATAGGGATCCGGCAG 0.577000 133 164 0 0 1 0 0 FRMPD1 22844 broad.mit.edu 37 9 37744478 37744478 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:37744478C>T ENST00000539465.1 + 16 3042 c.2449C>T c.(2449-2451)Cca>Tca p.P817S RP11-613M10.9_ENST00000540557.1_Intron|FRMPD1_ENST00000377765.3_Missense_Mutation_p.P817S Q5SYB0 FRPD1_HUMAN FERM and PDZ domain containing 1 817 cytoskeleton|cytosol|plasma membrane NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 93 GBM - Glioblastoma multiforme(29;0.00655) GCCTTGTGGGCCAGATGGAAG 0.542000 71 139 0 0 1 0 0 ESD 2098 broad.mit.edu 37 13 47351729 47351729 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr13:47351729G>A ENST00000378720.3 - 9 812 c.630C>T c.(628-630)tcC>tcT p.S210S ESD_ENST00000378697.1_Silent_p.S181S NM_001984.1 NP_001975.1 P10768 ESTD_HUMAN esterase D 210 cytoplasmic membrane-bounded vesicle carboxylesterase activity|S-formylglutathione hydrolase activity endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1) 9 all_lung(13;3.54e-08)|Lung NSC(96;9.1e-06)|Breast(56;0.000148)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556) GBM - Glioblastoma multiforme(144;2.66e-05) Glutathione(DB00143) ATCCTGGATAGGATTTCACAA 0.368000 37 100 0 0 1 0 0 OR10G9 219870 broad.mit.edu 37 11 123894254 123894254 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:123894254G>A ENST00000375024.1 + 1 535 c.535G>A c.(535-537)Gat>Aat p.D179N NM_001001953.1 NP_001001953.1 Q8NGN4 O10G9_HUMAN olfactory receptor, family 10, subfamily G, member 9 179 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.D179N(1) breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(33)|prostate(2)|skin(4)|stomach(8)|urinary_tract(1) 61 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399) CTATTTGTGTGATGCACCGCC 0.542000 96 93 0 0 1 0 0 DNAH17 8632 broad.mit.edu 37 17 76525574 76525574 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:76525574C>T ENST00000389840.5 - 22 3611 c.3487G>A c.(3487-3489)Gag>Aag p.E1163K DNAH17_ENST00000585328.1_Missense_Mutation_p.E1160K dynein, axonemal, heavy chain 17 NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 116 BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656) AAGTGGATCTCCTCTGGCATC 0.592000 37 163 0 0 1 0 0 PDE6B 5158 broad.mit.edu 37 4 651194 651194 + Missense_Mutation SNP A A C TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:651194A>C ENST00000255622.6 + 10 1355 c.1312A>C c.(1312-1314)Atg>Ctg p.M438L PDE6B_ENST00000429163.2_Missense_Mutation_p.M159L|PDE6B_ENST00000496514.1_Missense_Mutation_p.M438L NM_000283.3|NM_001145291.1 NP_000274.2|NP_001138763.1 P35913 PDE6B_HUMAN phosphodiesterase 6B, cGMP-specific, rod, beta 438 cytosolic calcium ion homeostasis|GMP metabolic process|phototransduction, visible light|platelet activation|visual perception cytosol|membrane 3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1) 30 CTACGACAAGATGAACAAGCT 0.612000 6 101 0 0 1 0 0 ALDOC 230 broad.mit.edu 37 17 26900873 26900873 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:26900873G>A ENST00000226253.4 - 8 1354 c.879C>T c.(877-879)ccC>ccT p.P293P RP11-192H23.5_ENST00000585189.1_RNA|ALDOC_ENST00000395321.2_Silent_p.P293P|ALDOC_ENST00000395319.3_Silent_p.P265P NM_005165.2 NP_005156.1 P09972 ALDOC_HUMAN aldolase C, fructose-bisphosphate 293 fructose 1,6-bisphosphate metabolic process|gluconeogenesis|glycolysis cytosol cytoskeletal protein binding|fructose-bisphosphate aldolase activity breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1) 11 Lung NSC(42;0.00431) CCCAGGGTCGGGGAAGGGGGC 0.607000 6 220 0 0 1 0 0 SLIT2 9353 broad.mit.edu 37 4 20570555 20570555 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:20570555G>A ENST00000504154.1 + 29 3268 c.3016G>A c.(3016-3018)Gac>Aac p.D1006N SLIT2_ENST00000273739.5_Missense_Mutation_p.D1010N|SLIT2_ENST00000503823.1_Missense_Mutation_p.D998N|SLIT2_ENST00000503837.1_Missense_Mutation_p.D1002N NM_004787.1 NP_004778.1 O94813 SLIT2_HUMAN slit homolog 2 (Drosophila) 1006 EGF-like 3; calcium-binding (Potential). apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development cell surface|cytoplasm|extracellular space|plasma membrane calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1) 116 TGAAGATAATGACTGTGAAAA 0.363000 40 81 0 0 1 0 0 SALL3 27164 broad.mit.edu 37 18 76754278 76754278 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr18:76754278G>A ENST00000536229.3 + 1 2597 c.1888G>A c.(1888-1890)Ggc>Agc p.G630S SALL3_ENST00000575389.2_Missense_Mutation_p.G763S|SALL3_ENST00000537592.2_Missense_Mutation_p.G763S Q9BXA9 SALL3_HUMAN spalt-like transcription factor 3 763 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 74 Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167) OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256) CATGCACATGGGCGGCCAGAT 0.652000 15 41 0 0 1 0 0 RFNG 5986 broad.mit.edu 37 17 80006671 80006671 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:80006671G>A ENST00000310496.4 - 8 934 c.927C>T c.(925-927)atC>atT p.I309I RFNG_ENST00000584838.1_5'UTR|RFNG_ENST00000429557.3_Silent_p.I183I NM_002917.1 NP_002908.1 Q9Y644 RFNG_HUMAN RFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase 309 cell differentiation|nervous system development|organ morphogenesis|pattern specification process extracellular region|integral to Golgi membrane O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|skin(1) 3 all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246) BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0211) GAAGACAATGGATAGACTTAA 0.657000 35 146 0 0 1 0 0 CLECL1 160365 broad.mit.edu 37 12 9885677 9885677 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:9885677G>A ENST00000327839.3 - 1 218 c.184C>T c.(184-186)Ccc>Tcc p.P62S NM_172004.3 NP_742001.1 Q8IZS7 CLCL1_HUMAN C-type lectin-like 1 62 integral to membrane|plasma membrane sugar binding breast(1)|kidney(1)|large_intestine(4)|lung(3) 9 CCACTGAAGGGACAATCATAT 0.433000 4 113 0 0 1 0 0 FAT4 79633 broad.mit.edu 37 4 126371563 126371563 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:126371563G>A ENST00000394329.3 + 9 9405 c.9392G>A c.(9391-9393)gGa>gAa p.G3131E FAT4_ENST00000335110.5_Missense_Mutation_p.G1429E NM_024582.4 NP_078858.4 Q6V0I7 FAT4_HUMAN FAT atypical cadherin 4 3131 Cadherin 30. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6) 355 ATTTCTTCAGGAAATGAAGAA 0.398000 37 62 0 0 1 0 0 CACNA1E 777 broad.mit.edu 37 1 181480632 181480632 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:181480632C>T ENST00000526775.1 + 3 663 c.498C>T c.(496-498)atC>atT p.I166I CACNA1E_ENST00000367570.1_Silent_p.I166I|CACNA1E_ENST00000358338.5_Silent_p.I117I|CACNA1E_ENST00000367567.4_5'UTR|CACNA1E_ENST00000357570.5_Silent_p.I117I|CACNA1E_ENST00000367573.2_Silent_p.I166I|CACNA1E_ENST00000360108.3_Silent_p.I166I NM_001205294.1 NP_001192223.1 Q15878 CAC1E_HUMAN calcium channel, voltage-dependent, R type, alpha 1E subunit 166 energy reserve metabolic process|membrane depolarization|synaptic transmission voltage-gated calcium channel complex voltage-gated calcium channel activity NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 204 TGGACTTCATCGTGGTCCTCA 0.522000 11 276 0 0 1 0 0 F13B 2165 broad.mit.edu 37 1 197029657 197029657 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:197029657G>A ENST00000367412.1 - 5 687 c.644C>T c.(643-645)tCt>tTt p.S215F NM_001994.2 NP_001985.2 P05160 F13B_HUMAN coagulation factor XIII, B polypeptide 215 Sushi 4. blood coagulation extracellular region breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3) 66 TAATCTTAAAGAAGAGCACTT 0.264000 4 90 0 0 1 0 0 SRGAP1 57522 broad.mit.edu 37 12 64383850 64383850 + Nonsense_Mutation SNP A A T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:64383850A>T ENST00000355086.3 + 3 948 c.424A>T c.(424-426)Aag>Tag p.K142* SRGAP1_ENST00000357825.3_Nonsense_Mutation_p.K142*|SRGAP1_ENST00000543397.1_Nonsense_Mutation_p.K102* NM_020762.2 NP_065813.1 Q7Z6B7 SRGP1_HUMAN SLIT-ROBO Rho GTPase activating protein 1 142 axon guidance cytosol breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 65 GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225) GBM - Glioblastoma multiforme(28;0.0608) GATGTTTAAAAAGGTACACTC 0.398000 39 114 0 0 1 0 0 CAPN5 726 broad.mit.edu 37 11 76804838 76804838 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:76804838C>T ENST00000278559.3 + 3 465 c.276C>T c.(274-276)tcC>tcT p.S92S CAPN5_ENST00000456580.2_Silent_p.S132S|CAPN5_ENST00000531028.1_Intron|CAPN5_ENST00000529629.1_Silent_p.S92S NM_004055.4 NP_004046.2 O15484 CAN5_HUMAN calpain 5 92 Calpain catalytic. proteolysis|signal transduction intracellular calcium-dependent cysteine-type endopeptidase activity NS(1)|breast(2)|endometrium(2)|large_intestine(7)|lung(17)|urinary_tract(1) 30 CACTTGCCTCCCGGGAGTCGC 0.657000 12 35 0 0 1 0 0 CHP2 63928 broad.mit.edu 37 16 23767210 23767210 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr16:23767210C>T ENST00000300113.2 + 3 606 c.183C>T c.(181-183)ccC>ccT p.P61P NM_022097.2 NP_071380.1 O43745 CHP2_HUMAN calcineurin-like EF-hand protein 2 61 EF-hand 1. calcium ion binding central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(2)|stomach(1) 9 GBM - Glioblastoma multiforme(48;0.0144) CCGTGAACCCCCTGGGAGACC 0.587000 22 53 0 0 1 0 0 TRBV5-6 28609 broad.mit.edu 37 7 142131491 142131491 + RNA SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:142131491G>A ENST00000390375.2 - 0 304 TATAGTTAGGGAACTGGTGAC 0.537000 52 195 0 0 1 0 0 C1orf168 199920 broad.mit.edu 37 1 57192207 57192207 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:57192207C>T ENST00000343433.6 - 16 1923 c.1843G>A c.(1843-1845)Gaa>Aaa p.E615K NM_001004303.4 NP_001004303.3 Q5VWT5 CA168_HUMAN chromosome 1 open reading frame 168 615 NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2) 46 TCTTTTTTTTCCTTTGGTGTC 0.353000 41 90 0 0 1 0 0 ARSJ 79642 broad.mit.edu 37 4 114824634 114824634 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:114824634G>A ENST00000315366.7 - 2 1462 c.596C>T c.(595-597)tCc>tTc p.S199F ARSJ_ENST00000541197.1_Missense_Mutation_p.S199F NM_024590.3 NP_078866.3 Q5FYB0 ARSJ_HUMAN arylsulfatase family, member J 199 extracellular region arylsulfatase activity|metal ion binding endometrium(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1) 21 Ovarian(17;0.0035)|Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.00194) TCCCAAAAGGGAACCAAAAAA 0.433000 98 163 0 0 1 0 0 XDH 7498 broad.mit.edu 37 2 31572575 31572575 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:31572575C>T ENST00000379416.3 - 26 2994 c.2946G>A c.(2944-2946)aaG>aaA p.K982K NM_000379.3 NP_000370.2 P47989 XDH_HUMAN xanthine dehydrogenase 982 purine nucleotide catabolic process|xanthine catabolic process cytosol|extracellular region|peroxisome 2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1) 74 Acute lymphoblastic leukemia(172;0.155) Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163) CAACCTCACTCTTCCGAGCAT 0.483000 9 232 0 0 1 0 0 GSAP 54103 broad.mit.edu 37 7 77033922 77033922 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:77033922C>T ENST00000257626.7 - 3 275 c.197G>A c.(196-198)gGa>gAa p.G66E GSAP_ENST00000430584.1_Missense_Mutation_p.E17K NM_017439.3 NP_059135.2 gamma-secretase activating protein GACGACATTTCCCTTATCATC 0.294000 15 43 0 0 1 0 0 FUT2 2524 broad.mit.edu 37 19 49206738 49206738 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:49206738G>A ENST00000425340.2 + 2 642 c.525G>A c.(523-525)cgG>cgA p.R175R FUT2_ENST00000391876.4_Silent_p.R175R NM_000511.5|NM_001097638.2 NP_000502.4|NP_001091107.1 Q10981 FUT2_HUMAN fucosyltransferase 2 (secretor status included) 175 L-fucose catabolic process|protein glycosylation Golgi cisterna membrane|integral to Golgi membrane galactoside 2-alpha-L-fucosyltransferase activity breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(2) 7 all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) OV - Ovarian serous cystadenocarcinoma(262;0.00011)|all cancers(93;0.000238)|GBM - Glioblastoma multiforme(486;0.0164)|Epithelial(262;0.017) ACCACGTGCGGGAGGAGGCCC 0.652000 4 101 0 0 1 0 0 OTOL1 131149 broad.mit.edu 37 3 161221166 161221166 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:161221166G>A ENST00000327928.4 + 4 870 c.870G>A c.(868-870)ggG>ggA p.G290G NM_001080440.1 NP_001073909.1 A6NHN0 OTOL1_HUMAN otolin 1 290 Collagen-like 3. collagen central_nervous_system(2)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1) 27 GTGATCCAGGGATTAAAGGAG 0.557000 10 19 0 0 1 0 0 PDE6B 5158 broad.mit.edu 37 4 619631 619631 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:619631G>A ENST00000255622.6 + 1 259 c.216G>A c.(214-216)atG>atA p.M72I PDE6B_ENST00000496514.1_Missense_Mutation_p.M72I NM_000283.3|NM_001145291.1 NP_000274.2|NP_001138763.1 P35913 PDE6B_HUMAN phosphodiesterase 6B, cGMP-specific, rod, beta 72 GAF 1. cytosolic calcium ion homeostasis|GMP metabolic process|phototransduction, visible light|platelet activation|visual perception cytosol|membrane 3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1) 30 GCATCAACATGGAGCGCGTGG 0.682000 15 30 0 0 1 0 0 ASXL3 80816 broad.mit.edu 37 18 31314324 31314324 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr18:31314324G>A ENST00000269197.5 + 10 1027 c.1027G>A c.(1027-1029)Gaa>Aaa p.E343K NM_030632.1 NP_085135.1 Q9C0F0 ASXL3_HUMAN additional sex combs like 3 (Drosophila) 343 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding p.K342_E343>N*(1)|p.K49_E50>N*(1) breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1) 43 AATTGAGAAGGAAAAGAAAAC 0.328000 11 31 0 0 1 0 0 OR5H14 403273 broad.mit.edu 37 3 97868450 97868450 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:97868450C>T ENST00000437310.1 + 1 281 c.221C>T c.(220-222)tCa>tTa p.S74L NM_001005514.1 NP_001005514.1 A6NHG9 O5H14_HUMAN olfactory receptor, family 5, subfamily H, member 14 74 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 31 GCTTTGTTATCATCCTCAGTG 0.398000 120 262 0 0 1 0 0 IL1B 3553 broad.mit.edu 37 2 113588929 113588929 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:113588929C>T ENST00000263341.2 - 6 747 c.537G>A c.(535-537)aaG>aaA p.K179K IL1B_ENST00000491056.1_5'UTR NM_000576.2 NP_000567.1 P01584 IL1B_HUMAN interleukin 1, beta 179 activation of MAPK activity|anti-apoptosis|apoptosis|cell-cell signaling|cellular response to drug|cellular response to mechanical stimulus|cytokine-mediated signaling pathway|embryo implantation|fever generation|negative regulation of adiponectin secretion|negative regulation of cell proliferation|negative regulation of glucose transport|negative regulation of insulin receptor signaling pathway|negative regulation of lipid catabolic process|negative regulation of MAP kinase activity|positive regulation of angiogenesis|positive regulation of calcidiol 1-monooxygenase activity|positive regulation of cell adhesion molecule production|positive regulation of cell division|positive regulation of fever generation|positive regulation of granulocyte macrophage colony-stimulating factor production|positive regulation of heterotypic cell-cell adhesion|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of interferon-gamma production|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of lipid catabolic process|positive regulation of membrane protein ectodomain proteolysis|positive regulation of mitosis|positive regulation of monocyte chemotactic protein-1 production|positive regulation of myosin light chain kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric oxide biosynthetic process|positive regulation of prostaglandin secretion|positive regulation of protein export from nucleus|positive regulation of T cell proliferation|positive regulation vascular endothelial growth factor production|regulation of insulin secretion|sequestering of triglyceride|smooth muscle adaptation cytosol|extracellular space cytokine activity|growth factor activity|interleukin-1 receptor binding|protein domain specific binding breast(2)|central_nervous_system(1)|large_intestine(1)|lung(8) 12 Anakinra(DB00026)|Minocycline(DB01017)|Procaterol(DB01366) GATTCTTTTCCTTGAGGCCCA 0.468000 55 105 0 0 1 0 0 IGLV1-51 28820 broad.mit.edu 37 22 22676848 22676848 + RNA SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr22:22676848C>T ENST00000390290.2 + 0 21 LL22NC03-80A10.6_ENST00000426066.1_RNA AGGCAGGACTCGGGACAATCT 0.572000 5 5 0 0 1 0 0 MECOM 2122 broad.mit.edu 37 3 169099182 169099182 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:169099182G>A ENST00000494292.1 - 2 265 c.168C>T c.(166-168)ttC>ttT p.F56F MECOM_ENST00000485957.1_5'UTR NM_004991.3 NP_004982.2 Q13465 MDS1_HUMAN MDS1 and EVI1 complex locus 56 sequence-specific DNA binding transcription factor activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4) 85 CCTTTGGAGTGAATGCTTCAC 0.488000 5 70 0 0 1 0 0 CLEC2B 9976 broad.mit.edu 37 12 10010202 10010202 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:10010202G>A ENST00000228438.2 - 3 1041 c.108C>T c.(106-108)ccC>ccT p.P36P NM_005127.2 NP_005118.2 Q92478 CLC2B_HUMAN C-type lectin domain family 2, member B 36 integral to plasma membrane sugar binding endometrium(1)|large_intestine(3)|lung(1) 5 TCCAATCATAGGGGCATAAAC 0.338000 27 45 0 0 1 0 0 CHST2 9435 broad.mit.edu 37 3 142840893 142840893 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:142840893C>T ENST00000309575.3 + 2 2619 c.1235C>T c.(1234-1236)cCc>cTc p.P412L NM_004267.4 NP_004258.2 Q9Y4C5 CHST2_HUMAN carbohydrate (N-acetylglucosamine-6-O) sulfotransferase 2 412 inflammatory response|multicellular organismal development|N-acetylglucosamine metabolic process|sulfur compound metabolic process integral to membrane|intrinsic to Golgi membrane|trans-Golgi network N-acetylglucosamine 6-O-sulfotransferase activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(2) 22 GCCCTGCAGCCCCCTGACTGG 0.617000 5 112 0 0 1 0 0 CNGA3 1261 broad.mit.edu 37 2 98996812 98996812 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:98996812G>A ENST00000393504.1 + 4 807 c.390G>A c.(388-390)ggG>ggA p.G130G CNGA3_ENST00000409937.1_Silent_p.G134G|CNGA3_ENST00000436404.2_Silent_p.G130G|CNGA3_ENST00000272602.2_Silent_p.G130G NM_001298.2 NP_001289.1 Q16281 CNGA3_HUMAN cyclic nucleotide gated channel alpha 3 130 signal transduction|visual perception integral to membrane cGMP binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3) 49 CAGACAGAGGGAGAAGGTAAG 0.572000 9 40 0 0 1 0 0 POU3F1 5453 broad.mit.edu 37 1 38511413 38511413 + Missense_Mutation SNP C C T rs141969937 TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:38511413C>T ENST00000373012.2 - 1 1037 c.1003G>A c.(1003-1005)Gcg>Acg p.A335T NM_002699.3 NP_002690.3 Q03052 PO3F1_HUMAN POU class 3 homeobox 1 335 positive regulation of transcription, DNA-dependent sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity cervix(1)|lung(1)|upper_aerodigestive_tract(1) 3 Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197) Myeloproliferative disorder(586;0.0255) CGGCCCTGCGCCGCGATCTTG 0.637000 12 33 0 0 1 0 0 KRTAP24-1 643803 broad.mit.edu 37 21 31654819 31654819 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr21:31654819G>A ENST00000340345.4 - 1 457 c.432C>T c.(430-432)acC>acT p.T144T NM_001085455.1 NP_001078924.1 Q3LI83 KR241_HUMAN keratin associated protein 24-1 144 keratin filament structural molecule activity breast(1)|large_intestine(3)|lung(7)|urinary_tract(3) 14 CGTTGCGGAGGGTTTGGCAGG 0.498000 45 134 0 0 1 0 0 GPS1 2873 broad.mit.edu 37 17 80012379 80012379 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:80012379C>T ENST00000306823.6 + 4 337 c.314C>T c.(313-315)tCt>tTt p.S105F GPS1_ENST00000355130.2_Intron|GPS1_ENST00000320548.4_Intron|GPS1_ENST00000578552.1_Intron|GPS1_ENST00000392358.2_Intron Q13098 CSN1_HUMAN G protein pathway suppressor 1 105 cell cycle|cullin deneddylation|inactivation of MAPK activity|JNK cascade cytoplasm|signalosome GTPase inhibitor activity|protein binding breast(1)|central_nervous_system(1)|endometrium(3)|liver(1)|lung(4)|prostate(1)|skin(2) 13 all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246) BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0211) GCCAGGTCCTCTCTCAGGGAG 0.701000 6 17 0 0 1 0 0 TENM1 10178 broad.mit.edu 37 X 123514403 123514403 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chrX:123514403C>T ENST00000422452.2 - 32 8245 c.8182G>A c.(8182-8184)Gaa>Aaa p.E2728K STAG2_ENST00000469481.1_Intron|TENM1_ENST00000371130.3_Missense_Mutation_p.E2721K NM_001163278.1|NM_001163279.1 NP_001156750.1|NP_001156751.1 teneurin transmembrane protein 1 CTGCCTATTTCGCTCTGTCTC 0.373000 4 61 0 0 1 0 0 KCNH5 27133 broad.mit.edu 37 14 63174776 63174776 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr14:63174776C>T ENST00000322893.7 - 11 2685 c.2417G>A c.(2416-2418)gGa>gAa p.G806E KCNH5_ENST00000420622.2_3'UTR NM_139318.3 NP_647479.2 Q8NCM2 KCNH5_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 5 806 regulation of transcription, DNA-dependent integral to membrane calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2) 99 OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168) TTTTCCATTTCCATTCTTCAT 0.458000 66 101 0 0 1 0 0 TJP1 7082 broad.mit.edu 37 15 30011216 30011216 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr15:30011216G>A ENST00000346128.6 - 21 3604 c.3130C>T c.(3130-3132)Cca>Tca p.P1044S TJP1_ENST00000400011.2_Missense_Mutation_p.P968S|TJP1_ENST00000356107.6_Missense_Mutation_p.P1044S|TJP1_ENST00000545208.2_Missense_Mutation_p.P964S NM_003257.3|NM_175610.2 NP_003248.3|NP_783297.2 Q07157 ZO1_HUMAN tight junction protein 1 1044 cell-cell junction assembly|cellular component disassembly involved in apoptosis basolateral plasma membrane|cell-cell adherens junction|Golgi apparatus|tight junction breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1) 68 all_lung(180;7.48e-11)|Breast(32;0.000153) all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186) TCTACGTATGGGAGTTGGGGT 0.498000 110 220 0 0 1 0 0 XDH 7498 broad.mit.edu 37 2 31604572 31604572 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:31604572G>A ENST00000379416.3 - 12 1107 c.1059C>T c.(1057-1059)atC>atT p.I353I NM_000379.3 NP_000370.2 P47989 XDH_HUMAN xanthine dehydrogenase 353 FAD-binding PCMH-type. purine nucleotide catabolic process|xanthine catabolic process cytosol|extracellular region|peroxisome 2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1) 74 Acute lymphoblastic leukemia(172;0.155) Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163) GGCTGGCAGTGATGATGTTCC 0.587000 18 35 0 0 1 0 0 SIK1 150094 broad.mit.edu 37 21 44840298 44840298 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr21:44840298G>A ENST00000270162.6 - 8 920 c.788C>T c.(787-789)cCc>cTc p.P263L NM_173354.3 NP_775490.2 P57059 SIK1_HUMAN salt-inducible kinase 1 263 Protein kinase. anoikis|cell cycle|cell differentiation|intracellular protein kinase cascade|multicellular organismal development|regulation of cell differentiation|regulation of mitotic cell cycle nucleus ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)|testis(2)|urinary_tract(1) 21 GCGCCTGGCGGGGTCCACCAC 0.726000 19 32 0 0 1 0 0 EHBP1 23301 broad.mit.edu 37 2 63175885 63175885 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:63175885G>A ENST00000263991.5 + 14 2491 c.2009G>A c.(2008-2010)gGa>gAa p.G670E EHBP1_ENST00000354487.3_Missense_Mutation_p.G635E|EHBP1_ENST00000431489.1_Missense_Mutation_p.G635E|EHBP1_ENST00000405289.1_Missense_Mutation_p.G635E|EHBP1_ENST00000405015.3_Missense_Mutation_p.G635E NM_015252.3 NP_056067.2 Q8NDI1 EHBP1_HUMAN EH domain binding protein 1 670 cytoplasm|membrane biliary_tract(1)|breast(3)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(22)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 47 Lung NSC(7;0.0951)|all_lung(7;0.169) LUSC - Lung squamous cell carcinoma(7;7.74e-05)|Epithelial(17;0.189) GATGACCCTGGAATATGTTCC 0.443000 20 42 0 0 1 0 0 CLVS2 134829 broad.mit.edu 37 6 123369871 123369871 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:123369871G>A ENST00000275162.4 + 4 2004 c.669G>A c.(667-669)cgG>cgA p.R223R CLVS2_ENST00000368438.1_Silent_p.R77R NM_001010852.2 NP_001010852.2 Q5SYC1 CLVS2_HUMAN clavesin 2 223 CRAL-TRIO. lysosome organization clathrin-coated vesicle|early endosome membrane|trans-Golgi network phosphatidylinositol-3,5-bisphosphate binding|transporter activity breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2) 40 AGAAAACTCGGAAAAGGGTAT 0.378000 42 71 0 0 1 0 0 TECRL 253017 broad.mit.edu 37 4 65170938 65170938 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:65170938C>T ENST00000381210.3 - 7 786 c.676G>A c.(676-678)Gga>Aga p.G226R TECRL_ENST00000513125.1_5'UTR|TECRL_ENST00000507440.1_Missense_Mutation_p.G226R NM_001010874.4 NP_001010874.2 Q5HYJ1 TECRL_HUMAN trans-2,3-enoyl-CoA reductase-like 226 lipid metabolic process cytoplasm|integral to membrane oxidoreductase activity, acting on the CH-CH group of donors endometrium(2)|kidney(5)|large_intestine(7)|lung(30)|prostate(1)|skin(1)|stomach(1) 47 GAAGTAAATCCCCAGTAAAAG 0.313000 38 108 0 0 1 0 0 UCHL1 7345 broad.mit.edu 37 4 41263905 41263905 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:41263905G>A ENST00000284440.4 + 6 568 c.424G>A c.(424-426)Gcc>Acc p.A142T UCHL1_ENST00000508768.1_Intron|UCHL1_ENST00000504818.1_3'UTR|UCHL1_ENST00000503431.1_Missense_Mutation_p.A142T|UCHL1_ENST00000512788.1_Missense_Mutation_p.A142T NM_004181.4 NP_004172.2 P09936 UCHL1_HUMAN ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase) 142 cell death|negative regulation of MAP kinase activity|protein deubiquitination|ubiquitin-dependent protein catabolic process nucleus|plasma membrane alpha-2A adrenergic receptor binding|cysteine-type endopeptidase activity|ligase activity|omega peptidase activity|ubiquitin binding|ubiquitin thiolesterase activity central_nervous_system(1)|endometrium(2)|large_intestine(3)|skin(2) 8 CATACAGGCAGCCCATGATGC 0.443000 23 41 0 0 1 0 0 FAT3 120114 broad.mit.edu 37 11 92534447 92534447 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:92534447C>T ENST00000298047.6 + 9 8285 c.8268C>T c.(8266-8268)ttC>ttT p.F2756F FAT3_ENST00000409404.2_Silent_p.F2756F|FAT3_ENST00000525166.1_Silent_p.F2606F Q8TDW7 FAT3_HUMAN FAT atypical cadherin 3 2756 Cadherin 25. homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 85 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) GGGGCATATTCGTCATAGAAC 0.483000 TCGA Ovarian(4;0.039) 5 58 0 0 1 0 0 OR5D18 219438 broad.mit.edu 37 11 55587930 55587930 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:55587930C>T ENST00000333976.4 + 1 845 c.825C>T c.(823-825)gcC>gcT p.A275A NM_001001952.1 NP_001001952.1 Q8NGL1 OR5DI_HUMAN olfactory receptor, family 5, subfamily D, member 18 275 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 55 all_epithelial(135;0.208) TCAAAGTGGCCTCTGTGTTTT 0.498000 31 69 0 0 1 0 0 COPA 1314 broad.mit.edu 37 1 160276980 160276980 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:160276980C>T ENST00000241704.7 - 14 1504 c.1275G>A c.(1273-1275)cgG>cgA p.R425R COPA_ENST00000368069.3_Silent_p.R425R NM_001098398.1|NM_004371.3 NP_001091868.1|NP_004362.2 P53621 COPA_HUMAN coatomer protein complex, subunit alpha 425 COPI coating of Golgi vesicle|intracellular protein transport|pancreatic juice secretion|retrograde vesicle-mediated transport, Golgi to ER COPI vesicle coat|cytosol|extracellular space|microsome|soluble fraction hormone activity|structural molecule activity central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2) 46 all_cancers(52;8.15e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) GGACAGCAAACCGATTTCGAG 0.493000 86 288 0 0 1 0 0 FCER2 2208 broad.mit.edu 37 19 7755301 7755301 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:7755301C>T ENST00000346664.5 - 9 824 c.612G>A c.(610-612)ccG>ccA p.P204P FCER2_ENST00000597921.1_Silent_p.P204P|FCER2_ENST00000360067.4_Silent_p.P203P NM_001220500.1|NM_002002.4 NP_001207429.1|NP_001993.2 P06734 FCER2_HUMAN Fc fragment of IgE, low affinity II, receptor for (CD23) 204 C-type lectin. positive regulation of killing of cells of other organism|positive regulation of nitric-oxide synthase 2 biosynthetic process|positive regulation of nitric-oxide synthase activity extracellular region|integral to plasma membrane IgE binding|integrin binding|receptor activity|sugar binding breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1) 10 CCTGCTCCTCCGGGCTGTGGA 0.652000 42 95 0 0 1 0 0 MYO3A 53904 broad.mit.edu 37 10 26359110 26359110 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:26359110G>A ENST00000265944.5 + 13 1407 c.1241G>A c.(1240-1242)gGa>gAa p.G414E MYO3A_ENST00000543632.1_Missense_Mutation_p.G414E NM_017433.4 NP_059129.3 Q8NEV4 MYO3A_HUMAN myosin IIIA 414 Myosin head-like. protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception cytoplasm|filamentous actin|filopodium|myosin complex actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 146 GCTGACTTAGGATATCAATCT 0.328000 27 54 0 0 1 0 0 ZNF780A 284323 broad.mit.edu 37 19 40580956 40580956 + Nonsense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:40580956G>A ENST00000450241.2 - 6 1602 c.1291C>T c.(1291-1293)Cga>Tga p.R431* AC005614.5_ENST00000595508.1_RNA|ZNF780A_ENST00000340963.5_Nonsense_Mutation_p.R465*|ZNF780A_ENST00000414720.2_Intron|ZNF780A_ENST00000594395.1_Nonsense_Mutation_p.R466*|ZNF780A_ENST00000455521.1_Nonsense_Mutation_p.R466*|ZNF780A_ENST00000595687.2_Nonsense_Mutation_p.R465* O75290 Z780A_HUMAN zinc finger protein 780A 465 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|upper_aerodigestive_tract(3)|urinary_tract(1) 31 all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925) GTATGAATTCGAGAATGTTCA 0.403000 69 168 0 0 1 0 0 FCGBP 8857 broad.mit.edu 37 19 40354296 40354296 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:40354296C>T ENST00000221347.6 - 35 16180 c.16173G>A c.(16171-16173)gcG>gcA p.A5391A NM_003890.2 NP_003881.2 Q9Y6R7 FCGBP_HUMAN Fc fragment of IgG binding protein 5391 VWFD 13. extracellular region protein binding NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3) 165 all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06) Epithelial(26;6.25e-23)|all cancers(26;1.13e-20) ATTTCTCCATCGCTGGCTTCT 0.542000 22 48 0 0 1 0 0 PCLO 27445 broad.mit.edu 37 7 82582301 82582301 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:82582301G>A ENST00000423517.2 - 5 8305 c.7968C>T c.(7966-7968)ccC>ccT p.P2656P PCLO_ENST00000333891.8_Silent_p.P2656P NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 2587 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 GAAATGAAGAGGGTGCTGTGA 0.448000 41 114 0 0 1 0 0 RPN2 6185 broad.mit.edu 37 20 35842220 35842220 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr20:35842220C>T ENST00000237530.6 + 9 1355 c.1044C>T c.(1042-1044)ttC>ttT p.F348F RPN2_ENST00000373622.5_Silent_p.F316F NM_002951.3 NP_002942.2 P04844 RPN2_HUMAN ribophorin II 348 post-translational protein modification|protein N-linked glycosylation via asparagine integral to membrane|nucleus|oligosaccharyltransferase complex dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|skin(2)|stomach(1) 24 Myeloproliferative disorder(115;0.00878) ATTATGACTTCCTTGTCGAAG 0.383000 32 75 0 0 1 0 0 NRAP 4892 broad.mit.edu 37 10 115375576 115375576 + Splice_Site SNP C C T rs111391425 TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:115375576C>T ENST00000369358.4 - 27 3242 c.e27-1 NRAP_ENST00000359988.3_Splice_Site|NRAP_ENST00000369360.3_Splice_Site|NRAP_ENST00000360478.3_Splice_Site Q86VF7 NRAP_HUMAN nebulin-related anchoring protein fascia adherens|muscle tendon junction actin binding|muscle alpha-actinin binding|zinc ion binding autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 95 Colorectal(252;0.0233)|Breast(234;0.188) Epithelial(162;0.00392)|all cancers(201;0.00569) TGTATAATCTCTGTGGATGGA 0.498000 9 25 0 0 1 0 0 SPTB 6710 broad.mit.edu 37 14 65253517 65253517 + Silent SNP A A G TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr14:65253517A>G ENST00000389722.3 - 15 3219 c.3166T>C c.(3166-3168)Ttg>Ctg p.L1056L SPTB_ENST00000556626.1_Silent_p.L1056L|SPTB_ENST00000389720.3_Silent_p.L1056L|SPTB_ENST00000389721.5_Silent_p.L1056L|SPTB_ENST00000542895.1_Silent_p.L1056L NM_001024858.2 NP_001020029.1 P11277 SPTB1_HUMAN spectrin, beta, erythrocytic 1056 actin filament capping|axon guidance cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton actin filament binding|structural constituent of cytoskeleton breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3) 106 all_lung(585;4.15e-09) all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628) TCCCCCAGCAAGTCCTCCTGG 0.607000 47 72 0 0 1 0 0 ZSCAN18 65982 broad.mit.edu 37 19 58601746 58601746 + Nonsense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:58601746C>T ENST00000600404.1 - 2 86 c.57G>A c.(55-57)tgG>tgA p.W19* ZSCAN18_ENST00000240727.6_5'UTR|ZSCAN18_ENST00000601144.1_5'UTR|ZSCAN18_ENST00000421612.2_Intron NM_001145542.1 NP_001139014.1 Q8TBC5 ZSC18_HUMAN zinc finger and SCAN domain containing 18 302 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|skin(3) 19 Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.114)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152) GTGCCAGAACCCACAGACCTG 0.597000 6 10 0 0 1 0 0 ZNF385D 79750 broad.mit.edu 37 3 21462821 21462821 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:21462821C>T ENST00000281523.2 - 8 1591 c.1073G>A c.(1072-1074)cGa>cAa p.R358Q NM_024697.2 NP_078973.1 Q9H6B1 Z385D_HUMAN zinc finger protein 385D 358 nucleus nucleic acid binding|zinc ion binding p.R358Q(1) NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4) 46 TGGAGCAGTTCGAAGACTGAA 0.587000 24 26 0 0 1 0 0 EPB41L4A 64097 broad.mit.edu 37 5 111594944 111594944 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:111594944G>A ENST00000261486.5 - 9 1053 c.777C>T c.(775-777)ctC>ctT p.L259L NM_022140.3 NP_071423.3 Q9HCS5 E41LA_HUMAN erythrocyte membrane protein band 4.1 like 4A 259 FERM. cytoplasm|cytoskeleton|extrinsic to membrane cytoskeletal protein binding breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(2)|skin(1) 34 all_cancers(142;4.93e-06)|all_epithelial(76;2.28e-08)|Prostate(80;0.000244)|Colorectal(10;0.000788)|Ovarian(225;0.0448)|Lung NSC(167;0.126)|all_lung(232;0.135) OV - Ovarian serous cystadenocarcinoma(64;6.24e-09)|Epithelial(69;1.43e-07)|all cancers(49;2.78e-05)|COAD - Colon adenocarcinoma(37;0.0467)|Colorectal(14;0.0791) CCAGTACTCTGAGTTCAAATT 0.373000 49 102 0 0 1 0 0 OR52N5 390075 broad.mit.edu 37 11 5799223 5799223 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:5799223C>T ENST00000317093.2 - 1 674 c.642G>A c.(640-642)ctG>ctA p.L214L TRIM5_ENST00000380027.1_Intron NM_001001922.2 NP_001001922.2 Q8NH56 O52N5_HUMAN olfactory receptor, family 52, subfamily N, member 5 214 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|large_intestine(3)|liver(1)|lung(17)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2) 33 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195) ACACTCCAATCAGGAGAGCAA 0.428000 26 33 0 0 1 0 0 PCLO 27445 broad.mit.edu 37 7 82582179 82582179 + Missense_Mutation SNP G G T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:82582179G>T ENST00000423517.2 - 5 8427 c.8090C>A c.(8089-8091)aCa>aAa p.T2697K PCLO_ENST00000333891.8_Missense_Mutation_p.T2697K NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 2628 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 TGGAGGAATTGTTATGGAAAT 0.398000 37 64 2.47316e-13 2.49199e-13 1 1 0 GRIK1 2897 broad.mit.edu 37 21 31062264 31062264 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr21:31062264G>A ENST00000399914.1 - 3 849 c.328C>T c.(328-330)Cct>Tct p.P110S GRIK1_ENST00000309434.7_Missense_Mutation_p.P110S|GRIK1_ENST00000327783.4_Missense_Mutation_p.P110S|GRIK1_ENST00000399909.1_Missense_Mutation_p.P110S|GRIK1_ENST00000389124.2_Missense_Mutation_p.P110S|GRIK1_ENST00000389125.3_Missense_Mutation_p.P110S|GRIK1_ENST00000535441.1_Missense_Mutation_p.P110S|GRIK1_ENST00000399913.1_Missense_Mutation_p.P110S|GRIK1_ENST00000472429.1_5'UTR|GRIK1_ENST00000399907.1_Missense_Mutation_p.P110S P39086 GRIK1_HUMAN glutamate receptor, ionotropic, kainate 1 110 central nervous system development|synaptic transmission cell junction|postsynaptic membrane kainate selective glutamate receptor activity NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1) 45 L-Glutamic Acid(DB00142)|Topiramate(DB00273) CTATGGGAAGGGCCAAAGAGA 0.562000 56 76 0 0 1 0 0 TET3 200424 broad.mit.edu 37 2 74274145 74274145 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:74274145C>T ENST00000409262.3 + 1 696 c.696C>T c.(694-696)tcC>tcT p.S232S NM_144993.1 NP_659430.1 O43151 TET3_HUMAN tet methylcytosine dioxygenase 3 232 metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 CACAGCTCTCCTCTGCCCTCC 0.597000 34 64 0 0 1 0 0 TBX18 9096 broad.mit.edu 37 6 85457778 85457778 + Missense_Mutation SNP G G C TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:85457778G>C ENST00000369663.5 - 5 1136 c.799C>G c.(799-801)Caa>Gaa p.Q267E TBX18_ENST00000606521.1_5'UTR|TBX18_ENST00000606784.1_Missense_Mutation_p.Q109E NM_001080508.1 NP_001073977.1 O95935 TBX18_HUMAN T-box 18 267 multicellular organismal development nucleus DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|liver(1)|lung(31)|ovary(2)|pancreas(3)|prostate(6)|skin(3) 61 all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858) BRCA - Breast invasive adenocarcinoma(108;0.0267) ACTCGCGGTTGGTATTTGTGC 0.433000 5 77 0 0 1 0 0 ISL2 64843 broad.mit.edu 37 15 76630152 76630152 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr15:76630152G>A ENST00000290759.4 + 2 252 c.92G>A c.(91-93)gGg>gAg p.G31E NM_145805.1 NP_665804.1 Q96A47 ISL2_HUMAN ISL LIM homeobox 2 31 LIM zinc-binding 1. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|kidney(1)|lung(2)|ovary(1)|skin(1) 6 GTGGGCTGCGGGAGTCAGATC 0.706000 15 21 0 0 1 0 0 MXRA5 25878 broad.mit.edu 37 X 3242419 3242419 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chrX:3242419G>A ENST00000217939.6 - 5 1461 c.1307C>T c.(1306-1308)tCc>tTc p.S436F NM_015419.3 NP_056234.2 Q9NR99 MXRA5_HUMAN matrix-remodelling associated 5 436 extracellular region NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2) 157 all_lung(23;0.00031)|Lung NSC(23;0.000946) GATATCTATGGATGGCTGCAT 0.483000 135 26 0 0 1 0 0 CHRM2 1129 broad.mit.edu 37 7 136700038 136700038 + Missense_Mutation SNP G G A rs142493466 TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:136700038G>A ENST00000445907.2 + 3 954 c.426G>A c.(424-426)atG>atA p.M142I AC009264.1_ENST00000439694.1_RNA|CHRM2_ENST00000397608.3_Missense_Mutation_p.M142I|CHRM2_ENST00000453373.1_Missense_Mutation_p.M142I|AC009264.1_ENST00000598184.1_RNA|AC009264.1_ENST00000593789.1_RNA|AC009264.1_ENST00000425981.2_RNA|AC009264.1_ENST00000586239.1_RNA|CHRM2_ENST00000320658.5_Missense_Mutation_p.M142I|AC009264.1_ENST00000597642.1_RNA|AC009264.1_ENST00000592183.1_RNA|CHRM2_ENST00000402486.3_Missense_Mutation_p.M142I|CHRM2_ENST00000401861.1_Missense_Mutation_p.M142I NM_001006627.1|NM_001006629.1 NP_001006628.1|NP_001006630.1 P08172 ACM2_HUMAN cholinergic receptor, muscarinic 2 142 activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|nervous system development|regulation of heart contraction|response to virus cell junction|integral to plasma membrane|postsynaptic membrane muscarinic acetylcholine receptor activity|protein binding central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 68 Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508) TGGCAGGTATGATGATTGCAG 0.502000 41 157 0 0 1 0 0 PRSS37 136242 broad.mit.edu 37 7 141539241 141539241 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:141539241C>T ENST00000350549.3 - 2 444 c.73G>A c.(73-75)Gac>Aac p.D25N PRSS37_ENST00000438520.1_Missense_Mutation_p.D25N NM_001008270.2|NM_001171951.1 NP_001008271.2|NP_001165422.1 A4D1T9 PRS37_HUMAN protease, serine, 37 25 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(3) 15 GGAGCAGGGTCTTCTTTCTGA 0.418000 21 52 0 0 1 0 0 SERPINB11 89778 broad.mit.edu 37 18 61387302 61387302 + RNA SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr18:61387302C>T ENST00000544088.1 + 0 593 SERPINB11_ENST00000489748.1_RNA|SERPINB11_ENST00000536691.1_RNA|SERPINB11_ENST00000382749.5_RNA|SERPINB11_ENST00000538847.1_RNA NM_080475.2 NP_536723.2 Q96P15 SPB11_HUMAN serpin peptidase inhibitor, clade B (ovalbumin), member 11 (gene/pseudogene) regulation of proteolysis cytoplasm serine-type endopeptidase inhibitor activity breast(1)|cervix(1)|kidney(1)|lung(3) 6 Esophageal squamous(42;0.129) CTGTAATGGTCCTGGTGAATG 0.323000 32 79 0 0 1 0 0 SLC8A3 6547 broad.mit.edu 37 14 70633952 70633952 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr14:70633952G>A ENST00000381269.2 - 2 1941 c.1188C>T c.(1186-1188)tcC>tcT p.S396S SLC8A3_ENST00000357887.3_Silent_p.S396S|SLC8A3_ENST00000356921.2_Silent_p.S396S|SLC8A3_ENST00000528359.1_Silent_p.S396S|SLC8A3_ENST00000534137.1_Silent_p.S396S NM_058240.2|NM_183002.1 NP_489479.1|NP_892114.1 P57103 NAC3_HUMAN solute carrier family 8 (sodium/calcium exchanger), member 3 396 Calx-beta 1. cell communication|platelet activation integral to membrane|plasma membrane calcium:sodium antiporter activity|calmodulin binding NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6) 54 BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555) AGAAGACCTTGGAAATAAAGT 0.517000 11 156 0 0 1 0 0 NR1H4 9971 broad.mit.edu 37 12 100934588 100934588 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:100934588G>A ENST00000548884.1 + 9 1599 c.1058G>A c.(1057-1059)cGa>cAa p.R353Q NR1H4_ENST00000392986.3_Missense_Mutation_p.R357Q|NR1H4_ENST00000549996.1_Missense_Mutation_p.R306Q|NR1H4_ENST00000188403.7_Missense_Mutation_p.R363Q|NR1H4_ENST00000551379.1_Missense_Mutation_p.R367Q NM_001206977.1|NM_001206979.1|NM_005123.3 NP_001193906.1|NP_001193908.1|NP_005114.1 Q96RI1 NR1H4_HUMAN nuclear receptor subfamily 1, group H, member 4 367 Ligand-binding. bile acid metabolic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding p.R353Q(2) NS(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 44 GAAAGAATTCGAAATAGTGGT 0.413000 22 86 0 0 1 0 0 GDPGP1 390637 broad.mit.edu 37 15 90785196 90785196 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr15:90785196G>A ENST00000558017.1 + 4 1476 c.1056G>A c.(1054-1056)gaG>gaA p.E352E GDPGP1_ENST00000329600.6_Silent_p.E352E NM_001013657.2 NP_001013679.2 Q6ZNW5 VTC2_HUMAN GDP-D-glucose phosphorylase 1 352 glucose metabolic process cytoplasm GDP-D-glucose phosphorylase activity GCCTGACAGAGGCAGCTGCTG 0.582000 48 71 0 0 1 0 0 ACTN2 88 broad.mit.edu 37 1 236900488 236900488 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:236900488G>A ENST00000366578.4 + 9 1016 c.850G>A c.(850-852)Gaa>Aaa p.E284K ACTN2_ENST00000542672.1_Missense_Mutation_p.E284K|ACTN2_ENST00000492634.1_3'UTR|ACTN2_ENST00000546208.1_Intron NM_001103.2|NM_001278343.1 NP_001094.1|NP_001265272.1 P35609 ACTN2_HUMAN actinin, alpha 2 284 focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3) 86 Ovarian(103;0.0634)|Breast(184;0.221) all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174) OV - Ovarian serous cystadenocarcinoma(106;0.00168) GAGGCTGATGGAAGAATATGA 0.488000 20 46 0 0 1 0 0 ZNF439 90594 broad.mit.edu 37 19 11977098 11977098 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:11977098C>T ENST00000304030.2 + 1 327 c.127C>T c.(127-129)Ctc>Ttc p.L43F ZNF439_ENST00000592534.1_Intron|ZNF439_ENST00000455282.1_Intron NM_152262.2 NP_689475.1 Q8NDP4 ZN439_HUMAN zinc finger protein 439 43 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(7)|pancreas(1)|skin(2) 27 CCAGAAGAATCTCTACAGGGA 0.448000 66 167 0 0 1 0 0 TYRO3 7301 broad.mit.edu 37 15 41862843 41862843 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr15:41862843G>A ENST00000263798.3 + 12 1749 c.1525G>A c.(1525-1527)Gag>Aag p.E509K TYRO3_ENST00000559066.1_Missense_Mutation_p.E464K NM_006293.3 NP_006284.2 Q06418 TYRO3_HUMAN TYRO3 protein tyrosine kinase 509 integral to plasma membrane ATP binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(26)|ovary(3)|prostate(1) 43 all_cancers(109;7.33e-15)|all_epithelial(112;2.8e-12)|Lung NSC(122;3.48e-08)|all_lung(180;1.71e-07)|Melanoma(134;0.0262) OV - Ovarian serous cystadenocarcinoma(18;3.31e-18)|GBM - Glioblastoma multiforme(113;9.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.117) GGAAAAACTGGAGGATGTGCT 0.547000 11 137 0 0 1 0 0 MLLT6 4302 broad.mit.edu 37 17 36873073 36873073 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:36873073C>T ENST00000325718.7 + 10 1581 c.1490C>T c.(1489-1491)tCc>tTc p.S497F CTB-58E17.9_ENST00000579499.1_RNA NM_005937.3 NP_005928.2 P55198 AF17_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6 497 regulation of transcription, DNA-dependent nucleus protein binding|zinc ion binding breast(3)|lung(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 8 Breast(7;4.43e-21) GCTGCCCCATCCTTGCCCAGT 0.662000 T MLL AL 8 26 0 0 1 0 0 EHHADH 1962 broad.mit.edu 37 3 184922442 184922442 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:184922442G>A ENST00000231887.3 - 6 747 c.672C>T c.(670-672)caC>caT p.H224H EHHADH_ENST00000456310.1_Silent_p.H128H NM_001166415.1|NM_001966.3 NP_001159887.1|NP_001957.2 Q08426 ECHP_HUMAN enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase 224 Enoyl-CoA hydratase / isomerase. peroxisome 3-hydroxyacyl-CoA dehydrogenase activity|coenzyme binding|dodecenoyl-CoA delta-isomerase activity|enoyl-CoA hydratase activity breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(2)|skin(3) 24 all_cancers(143;4.04e-11)|Ovarian(172;0.0339)|Breast(254;0.247) Epithelial(37;1.98e-32)|OV - Ovarian serous cystadenocarcinoma(80;5.55e-21) NADH(DB00157) GACACCCAGGGTGCTGCCTCC 0.527000 74 113 0 0 1 0 0 ANO4 121601 broad.mit.edu 37 12 101413900 101413900 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:101413900G>A ENST00000392979.3 + 8 1079 c.718G>A c.(718-720)Gaa>Aaa p.E240K ANO4_ENST00000299222.9_5'UTR|ANO4_ENST00000538618.1_3'UTR|ANO4_ENST00000392977.3_Missense_Mutation_p.E275K NM_178826.3 NP_849148.2 Q32M45 ANO4_HUMAN anoctamin 4 275 chloride channel complex chloride channel activity NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1) 78 AAAATATGAAGAAGGAAAAAA 0.313000 HNSCC(74;0.22) 30 44 0 0 1 0 0 NOS2 4843 broad.mit.edu 37 17 26100212 26100212 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:26100212C>T ENST00000313735.6 - 13 1767 c.1534G>A c.(1534-1536)Gag>Aag p.E512K NM_000625.4 NP_000616.3 P35228 NOS2_HUMAN nitric oxide synthase 2, inducible 512 Calmodulin-binding (Potential). arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process cytosol|nucleus arginine binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 56 Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155) AATGGAATCTCTCTTCTCTTG 0.527000 5 393 0 0 1 0 0 CDK8 1024 broad.mit.edu 37 13 26967641 26967641 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr13:26967641C>T ENST00000381527.3 + 7 1287 c.784C>T c.(784-786)Cct>Tct p.P262S CDK8_ENST00000536792.1_3'UTR NM_001260.1 NP_001251.1 P49336 CDK8_HUMAN cyclin-dependent kinase 8 262 Protein kinase. regulation of transcription, DNA-dependent|transcription, DNA-dependent mediator complex ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|urinary_tract(1) 25 Colorectal(5;0.000442) Lung SC(185;0.0156)|Breast(139;0.147) all cancers(112;0.0384)|Epithelial(112;0.142)|OV - Ovarian serous cystadenocarcinoma(117;0.188) AATGGGATTTCCTGCAGGTAC 0.353000 82 140 0 0 1 0 0 DTX2 113878 broad.mit.edu 37 7 76112061 76112061 + Missense_Mutation SNP T T A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:76112061T>A ENST00000324432.5 + 5 1015 c.505T>A c.(505-507)Tgc>Agc p.C169S DTX2_ENST00000446600.1_Missense_Mutation_p.C78S|DTX2_ENST00000446820.2_Missense_Mutation_p.C169S|DTX2_ENST00000430490.2_Missense_Mutation_p.C169S|DTX2_ENST00000307569.8_Missense_Mutation_p.C169S|DTX2_ENST00000413936.2_Missense_Mutation_p.C169S NM_020892.2 NP_065943.2 Q86UW9 DTX2_HUMAN deltex homolog 2 (Drosophila) 169 WWE 2. Notch signaling pathway cytoplasm|nucleus protein binding|zinc ion binding NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(1)|skin(1)|stomach(2) 27 TTCCAGCTTCTGCCGCAGCGT 0.657000 15 118 0 0 1 0 0 TRBV9 28586 broad.mit.edu 37 7 142240017 142240017 + RNA SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:142240017G>A ENST00000390363.2 - 0 41 CCCATGGCAGGATCTCCTAGC 0.517000 57 134 0 0 1 0 0 INA 9118 broad.mit.edu 37 10 105037767 105037767 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:105037767G>A ENST00000369849.4 + 1 848 c.799G>A c.(799-801)Gag>Aag p.E267K NM_032727.3 NP_116116.1 Q16352 AINX_HUMAN internexin neuronal intermediate filament protein, alpha 267 Coil 2.|Rod. cell differentiation|nervous system development neurofilament structural constituent of cytoskeleton breast(2)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(2) 13 Epithelial(162;3.45e-09)|all cancers(201;9.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.198) GGCTCTGAGGGAGATCCGCGC 0.647000 6 20 0 0 1 0 0 SCN11A 11280 broad.mit.edu 37 3 38968337 38968337 + Nonsense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:38968337G>A ENST00000302328.3 - 4 772 c.574C>T c.(574-576)Cga>Tga p.R192* SCN11A_ENST00000444237.2_Nonsense_Mutation_p.R192*|SCN11A_ENST00000456224.3_Nonsense_Mutation_p.R192*|SCN11A_ENST00000450244.1_Nonsense_Mutation_p.R192* NM_014139.2 NP_054858.2 Q9UI33 SCNBA_HUMAN sodium channel, voltage-gated, type XI, alpha subunit 192 response to drug voltage-gated sodium channel complex voltage-gated sodium channel activity NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3) 119 Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226) Cocaine(DB00907) CATGGATCTCGAAGGAAAGAA 0.378000 21 159 0 0 1 0 0 SYNGAP1 8831 broad.mit.edu 37 6 33414539 33414539 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:33414539C>T ENST00000418600.2 + 17 3871 c.3770C>T c.(3769-3771)tCc>tTc p.S1257F SYNGAP1_ENST00000293748.5_Missense_Mutation_p.S1257F|SYNGAP1_ENST00000496374.1_3'UTR|SYNGAP1_ENST00000428982.2_Missense_Mutation_p.S1198F NM_006772.2 NP_006763.2 Q96PV0 SYGP1_HUMAN synaptic Ras GTPase activating protein 1 1257 negative regulation of Ras protein signal transduction|signal transduction cytoplasm|intrinsic to internal side of plasma membrane Ras GTPase activator activity|SH3 domain binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1) 43 GAGAAGGATTCCCAGATCAAG 0.582000 21 62 0 0 1 0 0 ZFC3H1 196441 broad.mit.edu 37 12 72025788 72025788 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:72025788G>A ENST00000378743.3 - 15 3682 c.3324C>T c.(3322-3324)acC>acT p.T1108T NM_144982.4 NP_659419.3 O60293 ZC3H1_HUMAN zinc finger, C3H1-type containing 1108 RNA processing intracellular metal ion binding NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 TGCCTGTGGTGGTTTTTAAAA 0.343000 26 70 0 0 1 0 0 B9D1 27077 broad.mit.edu 37 17 19246737 19246737 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:19246737G>A ENST00000261499.4 - 7 653 c.510C>T c.(508-510)ctC>ctT p.L170L B9D1_ENST00000477478.2_3'UTR|B9D1_ENST00000575403.1_Intron|B9D1_ENST00000395615.1_3'UTR|B9D1_ENST00000461069.2_Intron NM_015681.3 NP_056496.1 Q9UPM9 B9D1_HUMAN B9 protein domain 1 170 cilium assembly centrosome|microtubule basal body protein binding large_intestine(3)|urinary_tract(1) 4 all_cancers(12;2.04e-05)|all_epithelial(12;0.000806)|Hepatocellular(7;0.00345)|Breast(13;0.143) CCACGTTGAAGAGGAGGGTGA 0.607000 4 72 0 0 1 0 0 CNKSR1 10256 broad.mit.edu 37 1 26510713 26510713 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:26510713C>T ENST00000531191.1 + 10 1168 c.161C>T c.(160-162)tCt>tTt p.S54F CNKSR1_ENST00000361530.6_Missense_Mutation_p.S312F|CNKSR1_ENST00000374253.5_Missense_Mutation_p.S319F Q969H4 CNKR1_HUMAN connector enhancer of kinase suppressor of Ras 1 319 SAM. Rho protein signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway cell cortex|cell-cell junction protein binding, bridging breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 28 Colorectal(325;3.46e-05)|all_lung(284;0.000116)|Lung NSC(340;0.000154)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.72e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|BRCA - Breast invasive adenocarcinoma(304;0.000959)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00823)|READ - Rectum adenocarcinoma(331;0.0649) AGGGCCCCATCTGAAGACGTC 0.622000 72 198 0 0 1 0 0 LAMA4 3910 broad.mit.edu 37 6 112462035 112462035 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:112462035C>T ENST00000230538.7 - 22 3300 c.2903G>A c.(2902-2904)gGa>gAa p.G968E LAMA4_ENST00000389463.4_Missense_Mutation_p.G961E|LAMA4_ENST00000424408.2_Missense_Mutation_p.G961E|LAMA4_ENST00000522006.1_Missense_Mutation_p.G961E NM_001105206.2 NP_001098676.2 Q16363 LAMA4_HUMAN laminin, alpha 4 968 Laminin G-like 1. cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex extracellular matrix structural constituent|receptor binding NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8) 100 all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209) all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242) AGAGTCATCTCCCGAAAATTC 0.448000 69 31 0 0 1 0 0 OR5H15 403274 broad.mit.edu 37 3 97887825 97887825 + Silent SNP C C T rs144053171 by1000genomes TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:97887825C>T ENST00000356526.2 + 1 282 c.282C>T c.(280-282)ctC>ctT p.L94L NM_001005515.1 NP_001005515.1 A6NDH6 O5H15_HUMAN olfactory receptor, family 5, subfamily H, member 15 94 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(2)|stomach(1) 35 TGATATCTCTCTCTGAATGCA 0.388000 57 171 0 0 1 0 0 CSF2RB 1439 broad.mit.edu 37 22 37332621 37332621 + Missense_Mutation SNP A A C TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr22:37332621A>C ENST00000262825.5 + 13 1730 c.1513A>C c.(1513-1515)Agc>Cgc p.S505R CSF2RB_ENST00000406230.1_Missense_Mutation_p.S505R|CSF2RB_ENST00000403662.3_Missense_Mutation_p.S499R|CSF2RB_ENST00000536485.1_Missense_Mutation_p.S446R NM_000395.2 NP_000386.1 P32927 IL3RB_HUMAN colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage) 499 respiratory gaseous exchange granulocyte macrophage colony-stimulating factor receptor complex cytokine receptor activity breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(3)|pancreas(1)|skin(5)|upper_aerodigestive_tract(2) 42 Sargramostim(DB00020) GCCCCCAGGCAGCATGTCGGC 0.662000 15 70 0 0 1 0 0 CD300LD 100131439 broad.mit.edu 37 17 72584797 72584797 + Nonsense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:72584797G>A ENST00000375352.1 - 2 312 c.232C>T c.(232-234)Cga>Tga p.R78* C17orf77_ENST00000392620.1_Intron NM_001115152.1 NP_001108624.1 Q6UXZ3 CLM4_HUMAN CD300 molecule-like family member d 78 Ig-like V-type. integral to membrane|plasma membrane receptor activity large_intestine(1)|lung(2)|prostate(1)|stomach(1) 5 ATGGAAACTCGATTCTTCTTT 0.448000 69 246 0 0 1 0 0 HAS1 3036 broad.mit.edu 37 19 52219632 52219632 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:52219632C>T ENST00000540069.2 - 4 995 c.935G>A c.(934-936)aGg>aAg p.R312K HAS1_ENST00000601714.1_Missense_Mutation_p.R320K|HAS1_ENST00000222115.1_Missense_Mutation_p.R313K|HAS1_ENST00000594621.1_Intron Q92839 HAS1_HUMAN hyaluronan synthase 1 313 cell adhesion integral to plasma membrane hyaluronan synthase activity|protein binding breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(4) 40 all_neural(266;0.0189)|Medulloblastoma(540;0.146) GBM - Glioblastoma multiforme(134;0.00102)|OV - Ovarian serous cystadenocarcinoma(262;0.0177) GAGGTTATTCCTATATAGGCC 0.542000 24 39 0 0 1 0 0 PXT1 222659 broad.mit.edu 37 6 36359613 36359613 + Missense_Mutation SNP A A C TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:36359613A>C ENST00000454782.2 - 5 822 c.339T>G c.(337-339)ttT>ttG p.F113L RP1-50J22.4_ENST00000411643.1_RNA NM_152990.3 NP_694535.2 Q8NFP0 PXT1_HUMAN peroxisomal, testis specific 1 30 peroxisome AAAAGAAGACAAAATGATCTA 0.338000 55 144 0 0 1 0 0 ADORA2A 135 broad.mit.edu 37 22 24829621 24829621 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr22:24829621C>T ENST00000337539.7 + 2 708 c.249C>T c.(247-249)ttC>ttT p.F83F ADORA2A_ENST00000496497.1_Intron|ADORA2A-AS1_ENST00000543438.1_RNA|ADORA2A-AS1_ENST00000326341.4_RNA|KB-1896H10.1_ENST00000358654.2_3'UTR NM_000675.4|NM_001278497.1|NM_001278498.1|NM_001278499.1|NM_001278500.1 NP_000666.2|NP_001265426.1|NP_001265427.1|NP_001265428.1|NP_001265429.1 P29274 AA2AR_HUMAN adenosine A2a receptor 83 apoptosis|blood coagulation|cAMP biosynthetic process|cellular defense response|inflammatory response|nerve growth factor receptor signaling pathway|phagocytosis|sensory perception integral to plasma membrane|membrane fraction enzyme binding breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(1)|lung(7)|skin(1) 21 Colorectal(2;0.196) Caffeine(DB00201)|Defibrotide(DB04932)|Pegademase bovine(DB00061)|Theophylline(DB00277) TTGCCTGCTTCGTCCTGGTCC 0.642000 48 98 0 0 1 0 0 THSD7B 80731 broad.mit.edu 37 2 137988644 137988644 + Missense_Mutation SNP T T A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:137988644T>A ENST00000409968.1 + 8 1932 c.1754T>A c.(1753-1755)gTt>gAt p.V585D THSD7B_ENST00000272643.3_Missense_Mutation_p.V585D|THSD7B_ENST00000413152.2_Missense_Mutation_p.V554D|THSD7B_ENST00000543459.1_Intron thrombospondin, type I, domain containing 7B NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 134 BRCA - Breast invasive adenocarcinoma(221;0.19) CTTTGCCCAGTTCCCCCTCCT 0.478000 4 58 0 0 1 0 0 PRAM1 84106 broad.mit.edu 37 19 8563472 8563472 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:8563472C>T ENST00000423345.4 - 2 1740 c.1220G>A c.(1219-1221)aGc>aAc p.S407N PRAM1_ENST00000255612.3_Missense_Mutation_p.S407N Q96QH2 PRAM_HUMAN PML-RARA regulated adaptor molecule 1 455 Pro-rich. lipid binding|protein binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1) 19 AAACCCAGGGCTGAGCGGGTG 0.692000 15 29 0 0 1 0 0 PIP5K1B 8395 broad.mit.edu 37 9 71532662 71532662 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:71532662G>A ENST00000265382.3 + 9 1275 c.970G>A c.(970-972)Gag>Aag p.E324K PIP5K1B_ENST00000541509.1_Missense_Mutation_p.E324K NM_003558.2 NP_003549.1 O14986 PI51B_HUMAN phosphatidylinositol-4-phosphate 5-kinase, type I, beta 324 PIPK. endomembrane system|membrane|uropod 1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|protein binding breast(1)|large_intestine(2)|stomach(1) 4 Lung(182;0.133) GATAATCACAGAGAACCCAGA 0.517000 38 69 0 0 1 0 0 SPTBN1 6711 broad.mit.edu 37 2 54856264 54856264 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:54856264G>A ENST00000333896.5 + 13 2339 c.1954G>A c.(1954-1956)Gat>Aat p.D652N SPTBN1_ENST00000356805.4_Missense_Mutation_p.D665N NM_178313.2 NP_842565.2 Q01082 SPTB2_HUMAN spectrin, beta, non-erythrocytic 1 665 actin filament capping|axon guidance cytosol|nucleolus|plasma membrane|sarcomere|spectrin actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 82 Lung(47;0.24) GTCCTCGGACGATTACGGGAA 0.612000 36 86 0 0 1 0 0 CNOT8 9337 broad.mit.edu 37 5 154251339 154251339 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:154251339C>T ENST00000517876.1 + 6 999 c.523C>T c.(523-525)Cca>Tca p.P175S CNOT8_ENST00000519404.1_Missense_Mutation_p.P121S|CNOT8_ENST00000403027.2_Missense_Mutation_p.P175S|CNOT8_ENST00000285896.6_Missense_Mutation_p.P175S|CNOT8_ENST00000521450.1_Missense_Mutation_p.P69S|CNOT8_ENST00000520671.1_Missense_Mutation_p.P69S|CNOT8_ENST00000523698.1_Missense_Mutation_p.P69S|CNOT8_ENST00000524105.1_Missense_Mutation_p.P11S|CNOT8_ENST00000521583.1_Missense_Mutation_p.P69S Q9UFF9 CNOT8_HUMAN CCR4-NOT transcription complex, subunit 8 175 negative regulation of cell proliferation|nuclear-transcribed mRNA poly(A) tail shortening cytosol|nucleus nucleic acid binding|protein binding|sequence-specific DNA binding transcription factor activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(2)|skin(1)|upper_aerodigestive_tract(1) 10 Renal(175;0.00488) Medulloblastoma(196;0.0523) KIRC - Kidney renal clear cell carcinoma(527;0.00112) TTCTCGTTTGCCAGAAGAGGA 0.373000 45 71 0 0 1 0 0 PHIP 55023 broad.mit.edu 37 6 79711730 79711730 + Missense_Mutation SNP A A G TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:79711730A>G ENST00000275034.4 - 17 1932 c.1765T>C c.(1765-1767)Ttt>Ctt p.F589L NM_017934.5 NP_060404.3 Q8WWQ0 PHIP_HUMAN pleckstrin homology domain interacting protein 589 insulin receptor signaling pathway|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis nucleus insulin receptor binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 68 all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219) BRCA - Breast invasive adenocarcinoma(397;0.231) TCAACCAAAAAAGGGGGAGGC 0.433000 24 62 0 0 1 0 0 TNXB 7148 broad.mit.edu 37 6 32011659 32011659 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:32011659C>T ENST00000375244.3 - 35 11598 c.11397G>A c.(11395-11397)caG>caA p.Q3799Q TNXB_ENST00000375247.2_Silent_p.Q3797Q|TNXB_ENST00000451343.1_Silent_p.Q228Q P22105 TENX_HUMAN tenascin XB 3844 actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction extracellular space|intracellular|proteinaceous extracellular matrix heparin binding|integrin binding endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1) 8 CCTGCACACTCTGAGGCTCCC 0.647000 99 117 0 0 1 0 0 MGAM 8972 broad.mit.edu 37 7 141740594 141740594 + Nonsense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:141740594C>T ENST00000475668.2 + 21 2500 c.2446C>T c.(2446-2448)Cga>Tga p.R816* MGAM_ENST00000549489.2_Nonsense_Mutation_p.R816* O43451 MGA_HUMAN maltase-glucoamylase (alpha-glucosidase) 816 Maltase. polysaccharide digestion|starch catabolic process apical plasma membrane|integral to membrane carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2) 13 Melanoma(164;0.0272) Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878) ACTTCACCTTCGAGGAGGCTA 0.468000 21 62 0 0 1 0 0 EGF 1950 broad.mit.edu 37 4 110895916 110895916 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:110895916G>A ENST00000265171.5 + 12 2227 c.1782G>A c.(1780-1782)aaG>aaA p.K594K EGF_ENST00000509793.1_Silent_p.K552K|EGF_ENST00000503392.1_Silent_p.K594K NM_001178130.1|NM_001963.4 NP_001171601.1|NP_001954.2 P01133 EGF_HUMAN epidermal growth factor 594 angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface integral to membrane|plasma membrane|platelet alpha granule lumen calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 50 Hepatocellular(203;0.0893) OV - Ovarian serous cystadenocarcinoma(123;9.87e-06) Sulindac(DB00605) TAATCACTAAGGAGAACATCT 0.378000 34 65 0 0 1 0 0 CHST5 23563 broad.mit.edu 37 16 75563848 75563848 + Nonsense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr16:75563848C>T ENST00000336257.3 - 3 1829 c.435G>A c.(433-435)tgG>tgA p.W145* RP11-77K12.7_ENST00000460606.1_3'UTR|CHST5_ENST00000541075.1_Nonsense_Mutation_p.W151* NM_024533.4 NP_078809.2 Q9GZS9 CHST5_HUMAN carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 5 145 N-acetylglucosamine metabolic process|protein sulfation integral to membrane|intrinsic to Golgi membrane N-acetylglucosamine 6-O-sulfotransferase activity cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2) 24 GGCTCGTTGCCCAGTTGAAAA 0.617000 76 54 0 0 1 0 0 KIAA1244 57221 broad.mit.edu 37 6 138601201 138601201 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:138601201G>A ENST00000251691.4 + 14 2527 c.2361G>A c.(2359-2361)gaG>gaA p.E787E NM_020340.4 NP_065073.3 Q5TH69 BIG3_HUMAN KIAA1244 787 SEC7. regulation of ARF protein signal transduction cytoplasm|integral to membrane ARF guanyl-nucleotide exchange factor activity NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2) 44 Breast(32;0.135) OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259) CCTGGATTGAGGAGCTCTACC 0.542000 4 78 0 0 1 0 0 TREM1 54210 broad.mit.edu 37 6 41243940 41243940 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:41243940G>A ENST00000244709.4 - 4 691 c.628C>T c.(628-630)Ctg>Ttg p.L210L TREM1_ENST00000334475.6_Silent_p.S145S|TREM1_ENST00000589614.1_Intron NM_018643.3 NP_061113.1 Q9NP99 TREM1_HUMAN triggering receptor expressed on myeloid cells 1 210 blood coagulation|humoral immune response|intracellular signal transduction|leukocyte migration extracellular region|integral to membrane|intracellular|plasma membrane receptor activity NS(1)|breast(2)|endometrium(2)|large_intestine(5)|lung(5)|skin(1) 16 Ovarian(28;0.0327)|Colorectal(47;0.196) Glutathione(DB00143) CCACCAGCCAGGAGAATGACA 0.532000 21 65 0 0 1 0 0 OBSCN 84033 broad.mit.edu 37 1 228509722 228509722 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:228509722C>T ENST00000570156.2 + 66 18125 c.18051C>T c.(18049-18051)atC>atT p.I6017I OBSCN_ENST00000284548.11_Silent_p.I5060I|OBSCN_ENST00000366707.4_Silent_p.I2694I|OBSCN_ENST00000422127.1_Silent_p.I5060I|OBSCN_ENST00000366709.4_Silent_p.I2179I NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 5060 Ig-like 52. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) TCATCTGCATCCGTTTTGAGG 0.597000 15 14 0 0 1 0 0 SIGLEC10 89790 broad.mit.edu 37 19 51919354 51919354 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:51919354G>A ENST00000353836.5 - 5 1043 c.822C>T c.(820-822)ctC>ctT p.L274L SIGLEC10_ENST00000432469.2_Silent_p.L191L|SIGLEC10_ENST00000439889.2_Silent_p.L216L|SIGLEC10_ENST00000339313.5_Silent_p.L274L|SIGLEC10_ENST00000441969.3_Silent_p.L216L|SIGLEC10_ENST00000442846.3_Intron|CTD-2616J11.2_ENST00000526996.1_RNA|SIGLEC10_ENST00000356298.5_Silent_p.L274L|SIGLEC10_ENST00000436984.2_Silent_p.L226L|SIGLEC10_ENST00000525998.1_Intron|CTD-2616J11.2_ENST00000532688.1_RNA NM_001171157.1|NM_001171158.1|NM_001171159.1 NP_001164628.1|NP_001164629.1|NP_001164630.1 Q96LC7 SIG10_HUMAN sialic acid binding Ig-like lectin 10 274 Ig-like C2-type 2. cell adhesion extracellular region|integral to membrane|plasma membrane sugar binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(27)|ovary(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101) CAGCACAGAGGAGCCGCAGGA 0.607000 9 22 0 0 1 0 0 GPR27 2850 broad.mit.edu 37 3 71804085 71804085 + Silent SNP C C T rs149967896 TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:71804085C>T ENST00000304411.2 + 1 885 c.885C>T c.(883-885)ctC>ctT p.L295L NM_018971.1 NP_061844.1 Q9NS67 GPR27_HUMAN G protein-coupled receptor 27 295 integral to membrane|plasma membrane G-protein coupled receptor activity kidney(1)|lung(2)|ovary(1)|prostate(1) 5 Prostate(10;0.00899) BRCA - Breast invasive adenocarcinoma(55;1.78e-05)|Epithelial(33;5.75e-05)|Lung(16;0.0012)|LUSC - Lung squamous cell carcinoma(21;0.00156) TCTTCCTGCTCCTCTGGGGGC 0.697000 25 50 0 0 1 0 0 MYH14 79784 broad.mit.edu 37 19 50713684 50713684 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:50713684C>T ENST00000440075.2 + 2 109 c.62C>T c.(61-63)cCc>cTc p.P21L MYH14_ENST00000596571.1_Missense_Mutation_p.P21L|MYH14_ENST00000262269.8_Missense_Mutation_p.P21L|MYH14_ENST00000598205.1_Missense_Mutation_p.P21L|MYH14_ENST00000601313.1_Missense_Mutation_p.P21L|MYH14_ENST00000376970.2_Missense_Mutation_p.P21L|MYH14_ENST00000425460.1_Missense_Mutation_p.P21L Q7Z406 MYH14_HUMAN myosin, heavy chain 14, non-muscle 21 Myosin head-like. axon guidance|regulation of cell shape myosin complex actin binding|ATP binding|calmodulin binding|motor activity central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 46 all_neural(266;0.0571)|Ovarian(192;0.0728) OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195) GGCCCAGTGCCCGAGGCGGCC 0.756000 7 9 0 0 1 0 0 SPOPL 339745 broad.mit.edu 37 2 139308588 139308588 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:139308588C>T ENST00000280098.4 + 4 695 c.316C>T c.(316-318)Ctt>Ttt p.L106F NM_001001664.2 NP_001001664.1 Q6IQ16 SPOPL_HUMAN speckle-type POZ protein-like 106 MATH. nucleus breast(2)|cervix(2)|endometrium(2)|large_intestine(2)|lung(11)|skin(2) 21 BRCA - Breast invasive adenocarcinoma(221;0.0296) CAAATTTTCCCTTCTGAATGC 0.353000 30 83 0 0 1 0 0 SREK1 140890 broad.mit.edu 37 5 65449311 65449311 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:65449311C>T ENST00000334121.6 + 2 341 c.182C>T c.(181-183)tCc>tTc p.S61F SREK1_ENST00000380918.3_5'UTR NM_001077199.2|NM_001270492.1 NP_001070667.1|NP_001257421.1 Q8WXA9 SREK1_HUMAN splicing regulatory glutamine/lysine-rich protein 1 0 mRNA processing|RNA splicing spliceosomal complex nucleic acid binding|nucleotide binding|protein binding breast(1)|kidney(3)|large_intestine(2)|lung(1)|pancreas(1)|prostate(1) 9 CTTGCTTTTTCCTCCAAAGTA 0.343000 16 257 0 0 1 0 0 RBP3 5949 broad.mit.edu 37 10 48389864 48389864 + Missense_Mutation SNP C C G TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:48389864C>G ENST00000224600.4 - 1 1127 c.1014G>C c.(1012-1014)aaG>aaC p.K338N NM_002900.2 NP_002891.1 P10745 RET3_HUMAN retinol binding protein 3, interstitial 338 4 X approximate tandem repeats. lipid metabolic process|proteolysis|transport|visual perception interphotoreceptor matrix retinal binding|serine-type peptidase activity central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 59 Vitamin A(DB00162) TGTAGTAGTCCTTCAGGACCT 0.642000 4 75 0 0 1 0 0 COL12A1 1303 broad.mit.edu 37 6 75866132 75866132 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:75866132G>A ENST00000322507.8 - 15 3400 c.3091C>T c.(3091-3093)Cgc>Tgc p.R1031C COL12A1_ENST00000483888.2_Missense_Mutation_p.R1031C|COL12A1_ENST00000345356.6_Intron|COL12A1_ENST00000416123.2_Missense_Mutation_p.R1031C NM_004370.5 NP_004361.3 Q99715 COCA1_HUMAN collagen, type XII, alpha 1 1031 Fibronectin type-III 7. cell adhesion|collagen fibril organization|skeletal system development collagen type XII|extracellular space extracellular matrix structural constituent conferring tensile strength breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2) 169 CCATGAGGGCGATAGACAACA 0.473000 5 96 0 0 1 0 0 ZNF765 91661 broad.mit.edu 37 19 53912230 53912230 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:53912230C>T ENST00000396408.3 + 4 1539 c.1422C>T c.(1420-1422)acC>acT p.T474T ZNF765_ENST00000594030.1_Intron NM_001040185.1 NP_001035275.1 Q7L2R6 ZN765_HUMAN zinc finger protein 765 474 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|lung(3) 4 GBM - Glioblastoma multiforme(134;0.00379) GTGGCAAGACCTTCAGCCGGA 0.373000 39 93 0 0 1 0 0 SPATA31E1 286234 broad.mit.edu 37 9 90502394 90502394 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:90502394G>A ENST00000325643.5 + 4 3058 c.2992G>A c.(2992-2994)Gag>Aag p.E998K NM_178828.4 NP_849150.3 SPATA31 subfamily E, member 1 GGCTGGGAACGAGGCATGGCT 0.582000 30 61 0 0 1 0 0 HIF3A 64344 broad.mit.edu 37 19 46828800 46828800 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:46828800C>T ENST00000339613.2 + 11 1431 c.1176C>T c.(1174-1176)ctC>ctT p.L392L HIF3A_ENST00000600383.1_Silent_p.L379L|HIF3A_ENST00000300862.3_Silent_p.L446L|HIF3A_ENST00000472815.1_Silent_p.L379L|HIF3A_ENST00000420102.2_Silent_p.L397L|HIF3A_ENST00000377670.4_Silent_p.L448L|AC007193.10_ENST00000596807.1_RNA|HIF3A_ENST00000244303.6_Silent_p.L379L Q9Y2N7 HIF3A_HUMAN hypoxia inducible factor 3, alpha subunit 448 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|signal transducer activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(14)|prostate(1)|skin(6)|upper_aerodigestive_tract(1) 33 Ovarian(192;0.00965)|all_neural(266;0.0887) OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136) AGGCTGATCTCCCAGATGAAC 0.493000 13 231 0 0 1 0 0 IGKV3D-20 28874 broad.mit.edu 37 2 90077798 90077798 + RNA SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:90077798C>T ENST00000390270.2 + 0 119 AGCGCAGCTTCTCTTCCTCCT 0.562000 63 106 0 0 1 0 0 WDFY3 23001 broad.mit.edu 37 4 85623542 85623542 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:85623542G>A ENST00000322366.6 - 55 8916 c.8509C>T c.(8509-8511)Cca>Tca p.P2837S WDFY3_ENST00000295888.4_Missense_Mutation_p.P2854S Q8IZQ1 WDFY3_HUMAN WD repeat and FYVE domain containing 3 2854 BEACH. cytoplasmic part|extrinsic to membrane|nuclear envelope 1-phosphatidylinositol binding|metal ion binding|protein binding breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 134 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000808) AGGAATTCTGGTAAATAAAAG 0.423000 33 99 0 0 1 0 0 RWDD2A 112611 broad.mit.edu 37 6 83905712 83905712 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:83905712C>T ENST00000369724.4 + 3 805 c.600C>T c.(598-600)ttC>ttT p.F200F RWDD2A_ENST00000539997.1_Silent_p.F146F NM_033411.3 NP_219479.2 Q9UIY3 RWD2A_HUMAN RWD domain containing 2A 200 cervix(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1) 5 all_cancers(76;2.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00217) BRCA - Breast invasive adenocarcinoma(397;0.045) TGGAGGGTTTCAAAGAGCACT 0.448000 76 30 0 0 1 0 0 BZW2 28969 broad.mit.edu 37 7 16734527 16734527 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:16734527G>A ENST00000433922.2 + 8 898 c.720G>A c.(718-720)aaG>aaA p.K240K BZW2_ENST00000258761.3_Silent_p.K240K|BZW2_ENST00000452975.2_3'UTR|BZW2_ENST00000407633.1_Silent_p.K46K|BZW2_ENST00000405202.1_Silent_p.K164K NM_001159767.1 NP_001153239.1 Q9Y6E2 BZW2_HUMAN basic leucine zipper and W2 domains 2 240 cell differentiation|nervous system development|RNA metabolic process protein binding cervix(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|skin(1)|urinary_tract(1) 15 Lung NSC(10;0.0367)|all_lung(11;0.0837) UCEC - Uterine corpus endometrioid carcinoma (126;0.199) CAGGTCTTAAGGAGCTTTCCG 0.483000 4 94 0 0 1 0 0 WNT2 7472 broad.mit.edu 37 7 116937679 116937679 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:116937679C>T ENST00000265441.3 - 4 1139 c.840G>A c.(838-840)agG>agA p.R280R NM_003391.2 NP_003382.1 P09544 WNT2_HUMAN wingless-type MMTV integration site family member 2 280 atrial cardiac muscle tissue morphogenesis|canonical Wnt receptor signaling pathway|cardiac epithelial to mesenchymal transition|cellular response to retinoic acid|cellular response to transforming growth factor beta stimulus|dorsal/ventral axis specification|iris morphogenesis|labyrinthine layer blood vessel development|lens development in camera-type eye|lung induction|mammary gland epithelium development|neuron differentiation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of fibroblast proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|Wnt receptor signaling pathway, calcium modulating pathway cytoplasm|extracellular space|proteinaceous extracellular matrix cytokine activity|frizzled binding|frizzled-2 binding|signal transducer activity breast(2)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|ovary(3)|prostate(1)|skin(2) 31 all_epithelial(6;2.24e-06)|Lung NSC(10;0.000936)|all_lung(10;0.00109) STAD - Stomach adenocarcinoma(10;0.000512) LUSC - Lung squamous cell carcinoma(290;0.133) CCTCTCGGTCCCTGATACAGT 0.398000 51 184 0 0 1 0 0 ENAM 10117 broad.mit.edu 37 4 71509688 71509688 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:71509688C>T ENST00000396073.3 + 9 2826 c.2545C>T c.(2545-2547)Cct>Tct p.P849S ENAM_ENST00000472903.1_Intron NM_031889.2 NP_114095.2 Q9NRM1 ENAM_HUMAN enamelin 849 bone mineralization|odontogenesis proteinaceous extracellular matrix structural constituent of tooth enamel haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2) 6 Lung(101;0.235) TTCATCTTTCCCTAACTTCAT 0.438000 39 66 0 0 1 0 0 A1CF 29974 broad.mit.edu 37 10 52603821 52603821 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:52603821C>T ENST00000395489.2 - 6 536 c.140G>A c.(139-141)aGg>aAg p.R47K A1CF_ENST00000373993.1_Missense_Mutation_p.R54K|A1CF_ENST00000395495.1_Missense_Mutation_p.R54K|A1CF_ENST00000374001.1_Missense_Mutation_p.R54K|A1CF_ENST00000373995.3_Missense_Mutation_p.R62K|A1CF_ENST00000373997.3_Missense_Mutation_p.R54K|A1CF_ENST00000282641.2_Missense_Mutation_p.R54K NM_001198819.1 NP_001185748.1 Q9NQ94 A1CF_HUMAN APOBEC1 complementation factor 54 cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm nucleotide binding|protein binding|single-stranded RNA binding NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3) 29 TTCACAGCCCCTTTCAGGGGG 0.423000 68 86 0 0 1 0 0 NLRP7 199713 broad.mit.edu 37 19 55439017 55439017 + Silent SNP G G A rs148164395 byFrequency TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:55439017G>A ENST00000446217.1 - 12 3423 c.3021C>T c.(3019-3021)ctC>ctT p.L1007L NLRP7_ENST00000448121.2_Silent_p.L951L|NLRP7_ENST00000328092.5_Silent_p.L951L|NLRP7_ENST00000340844.2_Intron|NLRP7_ENST00000590030.1_Intron|NLRP7_ENST00000588756.1_Silent_p.L979L|NLRP7_ENST00000592784.1_Silent_p.L979L Q8WX94 NALP7_HUMAN NLR family, pyrin domain containing 7 0 ATP binding autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 73 GBM - Glioblastoma multiforme(193;0.0325) GAACCCCAAAGAGCTTAATTA 0.388000 54 165 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9085057 9085057 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:9085057G>A ENST00000397910.4 - 1 6961 c.6758C>T c.(6757-6759)tCc>tTc p.S2253F NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 2253 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding p.S2253F(2) NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 AGGGGAGGGGGAAAAGGAGAC 0.458000 14 27 0 0 1 0 0 SPATA16 83893 broad.mit.edu 37 3 172634133 172634133 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:172634133C>T ENST00000351008.3 - 9 1660 c.1477G>A c.(1477-1479)Gac>Aac p.D493N NM_031955.5 NP_114161.3 Q9BXB7 SPT16_HUMAN spermatogenesis associated 16 493 cell differentiation|multicellular organismal development|spermatogenesis Golgi apparatus binding breast(2)|cervix(1)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 43 Ovarian(172;0.00319)|Breast(254;0.197) LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14) TGACTGATGTCCTGTAGGTAG 0.463000 94 183 0 0 1 0 0 ARHGAP26 23092 broad.mit.edu 37 5 142434008 142434008 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:142434008C>T ENST00000378004.3 + 15 1645 c.1290C>T c.(1288-1290)ccC>ccT p.P430P ARHGAP26_ENST00000274498.4_Silent_p.P430P NM_001135608.1 NP_001129080.1 Q9UNA1 RHG26_HUMAN Rho GTPase activating protein 26 430 Rho-GAP. actin cytoskeleton organization|filopodium assembly|nervous system development|small GTPase mediated signal transduction cytoskeleton|cytosol|focal adhesion cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(7)|ovary(1) 25 all_hematologic(541;0.0416) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) TTTTAGACCCCAAGACTGCTT 0.383000 67 260 0 0 1 0 0 AHRR 57491 broad.mit.edu 37 5 434031 434031 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:434031G>A ENST00000316418.5 + 12 1286 c.1242G>A c.(1240-1242)gaG>gaA p.E414E AHRR_ENST00000512529.1_Silent_p.E242E|AHRR_ENST00000506456.1_Silent_p.E252E|AHRR_ENST00000505113.1_Silent_p.E396E NM_020731.4 NP_065782.2 A9YTQ3 AHRR_HUMAN aryl-hydrocarbon receptor repressor 396 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|signal transducer activity breast(2)|endometrium(4)|large_intestine(1)|lung(12)|prostate(1) 20 Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863) GGCGGAGGGAGACTCCAGGAC 0.647000 16 42 0 0 1 0 0 OR14C36 127066 broad.mit.edu 37 1 248512109 248512109 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:248512109C>T ENST00000317861.1 + 1 33 c.33C>T c.(31-33)ctC>ctT p.L11L NM_001001918.1 NP_001001918.1 Q8NHC7 O14CZ_HUMAN olfactory receptor, family 14, subfamily C, member 36 11 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(2)|lung(20)|ovary(2)|prostate(3)|skin(7)|upper_aerodigestive_tract(2) 43 TGGAATTTCTCCTCATGAGGT 0.413000 64 42 0 0 1 0 0 CYP2W1 54905 broad.mit.edu 37 7 1028300 1028300 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:1028300G>A ENST00000308919.7 + 9 1328 c.1315G>A c.(1315-1317)Gcc>Acc p.A439T CYP2W1_ENST00000340150.6_3'UTR NM_017781.2 NP_060251.2 Q8TAV3 CP2W1_HUMAN cytochrome P450, family 2, subfamily W, polypeptide 1 439 xenobiotic metabolic process endoplasmic reticulum membrane electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen breast(1)|large_intestine(1)|lung(4)|urinary_tract(1) 7 Ovarian(82;0.0112) UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;1.74e-15) GGAGCGCCTGGCCAGGACCGA 0.726000 34 48 0 0 1 0 0 WAS 7454 broad.mit.edu 37 X 48544004 48544004 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chrX:48544004C>T ENST00000376701.4 + 3 417 c.342C>T c.(340-342)ttC>ttT p.F114F WAS_ENST00000483750.1_3'UTR NM_000377.2 NP_000368.1 P42768 WASP_HUMAN Wiskott-Aldrich syndrome 114 WH1. blood coagulation|defense response|epidermis development|immune response|T cell receptor signaling pathway actin cytoskeleton|cytosol identical protein binding|small GTPase regulator activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(4)|skin(1)|upper_aerodigestive_tract(1) 28 all_lung(315;1.27e-10) CCCCCTTCTTCCACACCTTCG 0.622000 """Mis, N, F, S""" lymphoma 10 2 0 0 1 0 0 DNAH9 1770 broad.mit.edu 37 17 11837356 11837356 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:11837356C>T ENST00000262442.3 + 65 12525 c.12457C>T c.(12457-12459)Cca>Tca p.P4153S DNAH9_ENST00000396001.2_Missense_Mutation_p.P465S|DNAH9_ENST00000454412.2_Missense_Mutation_p.P4077S NM_001372.3 NP_001363.2 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 4153 cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity p.P4153T(1) NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4) 290 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) GTTCCCACTCCCAGGCAACAT 0.532000 36 69 0 0 1 0 0 DRD5 1816 broad.mit.edu 37 4 9784556 9784556 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:9784556C>T ENST00000304374.2 + 1 1299 c.903C>T c.(901-903)atC>atT p.I301I NM_000798.4 NP_000789.1 P21918 DRD5_HUMAN dopamine receptor D5 301 activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic integral to plasma membrane NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1) 57 Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624) TGTCGGTGATCATGGGGGTCT 0.632000 29 117 0 0 1 0 0 ABCB4 5244 broad.mit.edu 37 7 87035663 87035663 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:87035663C>T ENST00000265723.4 - 26 3559 c.3448G>A c.(3448-3450)Gaa>Aaa p.E1150K ABCB4_ENST00000453593.1_Missense_Mutation_p.E1096K|ABCB4_ENST00000545634.1_Missense_Mutation_p.E1143K|ABCB4_ENST00000359206.3_Missense_Mutation_p.E1143K|ABCB4_ENST00000358400.3_Missense_Mutation_p.E1096K NM_000443.3|NM_018849.2 NP_000434.1|NP_061337.1 P21439 MDR3_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 4 1150 ABC transporter 2. cellular lipid metabolic process apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction ATP binding|xenobiotic-transporting ATPase activity breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 77 Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203) CTCACAATTTCATCCTGTGAT 0.453000 80 268 0 0 1 0 0 KHDRBS2 202559 broad.mit.edu 37 6 62390884 62390884 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:62390884G>A ENST00000281156.4 - 9 1312 c.1034C>T c.(1033-1035)cCc>cTc p.P345L RP1-240B8.3_ENST00000511849.2_RNA NM_152688.2 NP_689901.2 Q5VWX1 KHDR2_HUMAN KH domain containing, RNA binding, signal transduction associated 2 345 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus SH3 domain binding NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|liver(1)|lung(13)|ovary(3)|prostate(3)|skin(12)|upper_aerodigestive_tract(2)|urinary_tract(1) 49 BRCA - Breast invasive adenocarcinoma(397;0.149) TCTACCATAGGGGTGTTCCCT 0.488000 18 42 0 0 1 0 0 TMEM180 79847 broad.mit.edu 37 10 104230741 104230741 + Missense_Mutation SNP T T A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:104230741T>A ENST00000238936.4 + 5 808 c.571T>A c.(571-573)Tcc>Acc p.S191T TMEM180_ENST00000369931.3_Intron|TMEM180_ENST00000366277.2_Intron NM_024789.3 NP_079065.2 Q14CX5 TM180_HUMAN transmembrane protein 180 191 integral to membrane breast(3)|endometrium(2)|large_intestine(3)|lung(1)|ovary(3)|skin(1) 13 Colorectal(252;0.122) Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215) GGATTTCTCCTCCTTCCGCGC 0.617000 8 224 0 0 1 0 0 CD1C 911 broad.mit.edu 37 1 158261127 158261127 + Missense_Mutation SNP C C T rs145638725 TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:158261127C>T ENST00000368170.3 + 2 544 c.265C>T c.(265-267)Cgt>Tgt p.R89C NM_001765.2 NP_001756.2 P29017 CD1C_HUMAN CD1c molecule 89 antigen processing and presentation|T cell activation involved in immune response endosome membrane|integral to plasma membrane endogenous lipid antigen binding|exogenous lipid antigen binding|glycolipid binding|lipopeptide binding p.R89C(1) NS(1)|endometrium(3)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1) 39 all_hematologic(112;0.0378) GTTGTTATTTCGTTTCTACCT 0.398000 75 83 0 0 1 0 0 LEPREL1 55214 broad.mit.edu 37 3 189681802 189681802 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:189681802C>T ENST00000319332.5 - 14 2176 c.1979G>A c.(1978-1980)gGa>gAa p.G660E LEPREL1_ENST00000427335.2_Missense_Mutation_p.G479E NM_018192.3 NP_060662.2 Q8IVL5 P3H2_HUMAN leprecan-like 1 660 Fe2OG dioxygenase. collagen metabolic process|negative regulation of cell proliferation|peptidyl-proline hydroxylation basement membrane|endoplasmic reticulum|Golgi apparatus iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(5) 41 all_cancers(143;4.01e-10)|Ovarian(172;0.0925) Lung(62;4.35e-05) GBM - Glioblastoma multiforme(93;0.02) L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126) ACACCTCTTTCCCTTGGTGAC 0.498000 45 82 0 0 1 0 0 SSTR5 6755 broad.mit.edu 37 16 1129741 1129741 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr16:1129741C>T ENST00000293897.4 + 1 961 c.873C>T c.(871-873)atC>atT p.I291I SSTR5_ENST00000397547.2_Silent_p.I291I|SSTR5_ENST00000562758.1_Intron NM_001053.3 NP_001044.1 P35346 SSR5_HUMAN somatostatin receptor 5 291 negative regulation of cell proliferation integral to plasma membrane somatostatin receptor activity endometrium(2)|lung(5)|prostate(1)|skin(1) 9 Hepatocellular(780;0.00369) Octreotide(DB00104) TCGTGGTCATCCTCTCCTACG 0.627000 23 58 0 0 1 0 0 KCTD11 147040 broad.mit.edu 37 17 7256749 7256749 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:7256749C>T ENST00000333751.3 + 1 1542 c.488C>T c.(487-489)cCc>cTc p.P163L RP11-542C16.1_ENST00000572417.1_RNA NM_001002914.2 NP_001002914.1 Q693B1 KCD11_HUMAN potassium channel tetramerization domain containing 11 163 cell cycle|regulation of growth voltage-gated potassium channel complex voltage-gated potassium channel activity kidney(1)|large_intestine(2)|lung(1) 4 Prostate(122;0.157) GCCCCCCGCCCCGTGGAACTC 0.667000 27 68 0 0 1 0 0 PRR12 57479 broad.mit.edu 37 19 50099516 50099516 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:50099516C>T ENST00000418929.2 + 4 1936 c.1924C>T c.(1924-1926)Ctt>Ttt p.L642F NM_020719.1 NP_065770.1 Q9ULL5 PRR12_HUMAN proline rich 12 400 Pro-rich. DNA binding NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2) 11 all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887) OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132) TGAGGAGTTCCTTATCCAGCA 0.682000 12 26 0 0 1 0 0 ZNF804B 219578 broad.mit.edu 37 7 88963932 88963932 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:88963932G>A ENST00000333190.4 + 4 2245 c.1636G>A c.(1636-1638)Gaa>Aaa p.E546K NM_181646.2 NP_857597.1 A4D1E1 Z804B_HUMAN zinc finger protein 804B 546 intracellular zinc ion binding NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9) 144 all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151) STAD - Stomach adenocarcinoma(171;0.0513) TCCGGATTGGGAAAAATTCCA 0.348000 HNSCC(36;0.09) 30 79 0 0 1 0 0 ADCY8 114 broad.mit.edu 37 8 131826338 131826338 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:131826338G>A ENST00000286355.5 - 14 4982 c.2890C>T c.(2890-2892)Cta>Tta p.L964L ADCY8_ENST00000377928.3_Silent_p.L833L NM_001115.2 NP_001106.1 P40145 ADCY8_HUMAN adenylate cyclase 8 (brain) 964 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|membrane fraction|plasma membrane ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2) 134 Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000538) TCCTTCTCTAGGAAATGGCGG 0.517000 HNSCC(32;0.087) 43 77 0 0 1 0 0 MECOM 2122 broad.mit.edu 37 3 168833581 168833581 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:168833581G>A ENST00000464456.1 - 7 2715 c.1515C>T c.(1513-1515)tcC>tcT p.S505S MECOM_ENST00000433243.2_Silent_p.S506S|MECOM_ENST00000460814.1_Silent_p.S505S|MECOM_ENST00000494292.1_Silent_p.S693S|MECOM_ENST00000392736.3_Silent_p.S505S|MECOM_ENST00000264674.3_Silent_p.S570S|MECOM_ENST00000472280.1_Silent_p.S506S|MECOM_ENST00000468789.1_Silent_p.S505S NM_001164000.1 NP_001157472.1 Q13465 MDS1_HUMAN MDS1 and EVI1 complex locus 0 sequence-specific DNA binding transcription factor activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4) 85 GGGGAAACATGGAAGGGTAAG 0.408000 34 72 0 0 1 0 0 LRP2 4036 broad.mit.edu 37 2 170148851 170148851 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:170148851G>A ENST00000263816.3 - 7 966 c.681C>T c.(679-681)ttC>ttT p.F227F LRP2_ENST00000443831.1_Silent_p.F227F NM_004525.2 NP_004516.2 P98164 LRP2_HUMAN low density lipoprotein receptor-related protein 2 227 LDL-receptor class A 6. hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process coated pit|integral to membrane|lysosome calcium ion binding|receptor activity|SH3 domain binding biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13) 315 STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101) Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013) TGGGGCAAGTGAACTGGTAAC 0.468000 26 51 0 0 1 0 0 PDE4C 5143 broad.mit.edu 37 19 18327706 18327706 + Splice_Site SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:18327706C>T ENST00000355502.3 - 16 2202 c.e16-1 PDE4C_ENST00000539010.1_Splice_Site|PDE4C_ENST00000262805.11_Splice_Site|PDE4C_ENST00000594465.2_Splice_Site|AC068499.10_ENST00000594805.2_RNA|PDE4C_ENST00000447275.2_Splice_Site|PDE4C_ENST00000594617.2_Splice_Site Q08493 PDE4C_HUMAN phosphodiesterase 4C, cAMP-specific signal transduction cytosol 3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 33 Dyphylline(DB00651) AGCTCTGAGTCTGTGAGGGTA 0.552000 40 67 0 0 1 0 0 ANKRD30A 91074 broad.mit.edu 37 10 37508823 37508823 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:37508823G>A ENST00000374660.1 + 40 4471 c.4372G>A c.(4372-4374)Gaa>Aaa p.E1458K ANKRD30A_ENST00000361713.1_Missense_Mutation_p.E1339K|ANKRD30A_ENST00000602533.1_Missense_Mutation_p.E1339K Q9BXX3 AN30A_HUMAN ankyrin repeat domain 30A 1395 nucleus DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3) 158 AGCAGAAACAGAAGTAAGTAT 0.274000 5 8 0 0 1 0 0 IGHV5-51 28388 broad.mit.edu 37 14 107034732 107034732 + RNA SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr14:107034732C>T ENST00000390626.2 - 0 406 CTGTGTGTCTCGCACAGTAAT 0.597000 6 202 0 0 1 0 0 ASTN1 460 broad.mit.edu 37 1 176845699 176845699 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:176845699G>A ENST00000367654.2 - 21 3474 c.3461C>T c.(3460-3462)cCc>cTc p.P1154L ASTN1_ENST00000367657.3_Missense_Mutation_p.P1146L|ASTN1_ENST00000361833.2_Missense_Mutation_p.P1146L|ASTN1_ENST00000424564.2_Missense_Mutation_p.P1146L O14525 ASTN1_HUMAN astrotactin 1 1154 cell migration|neuron cell-cell adhesion integral to membrane NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3) 153 ATCCACCACGGGGCATGGGGT 0.577000 40 67 0 0 1 0 0 LSM7 51690 broad.mit.edu 37 19 2321787 2321787 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:2321787G>A ENST00000252622.9 - 4 253 c.204C>T c.(202-204)acC>acT p.T68T LSM7_ENST00000589532.1_5'UTR NM_016199.2 NP_057283.1 Q9UK45 LSM7_HUMAN LSM7 homolog, U6 small nuclear RNA associated (S. cerevisiae) 68 nuclear mRNA splicing, via spliceosome nucleus|ribonucleoprotein complex protein binding|U6 snRNA binding kidney(1)|urinary_tract(1) 2 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CCAGCTGCCGGGTGTCCTCCG 0.667000 5 9 0 0 1 0 0 COPZ1 22818 broad.mit.edu 37 12 54734323 54734323 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:54734323C>T ENST00000549043.1 + 2 130 c.35C>T c.(34-36)tCt>tTt p.S12F COPZ1_ENST00000548281.1_Intron|COPZ1_ENST00000548753.1_Intron|COPZ1_ENST00000416254.2_Intron|COPZ1_ENST00000455864.2_Intron|COPZ1_ENST00000262061.2_Intron|COPZ1_ENST00000553231.1_Intron|COPZ1_ENST00000552218.1_Intron|COPZ1_ENST00000552362.1_Intron|COPZ1_ENST00000549116.1_Intron|COPZ1_ENST00000551779.1_Intron|RP11-968A15.8_ENST00000553061.1_RNA P61923 COPZ1_HUMAN coatomer protein complex, subunit zeta 1 0 COPI coating of Golgi vesicle|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER COPI vesicle coat|cytosol kidney(1)|lung(4) 5 ATGTTCGTATCTCTTCAGGAA 0.483000 8 141 0 0 1 0 0 SLIT1 6585 broad.mit.edu 37 10 98816969 98816969 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:98816969G>A ENST00000266058.4 - 12 1400 c.1155C>T c.(1153-1155)ctC>ctT p.L385L ARHGAP19-SLIT1_ENST00000453547.2_3'UTR|SLIT1_ENST00000371070.4_Silent_p.L385L NM_003061.2 NP_003052.2 O75093 SLIT1_HUMAN slit homolog 1 (Drosophila) 385 axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis cytoplasm|extracellular space calcium ion binding|Roundabout binding breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 78 Colorectal(252;0.162) Epithelial(162;2.02e-08)|all cancers(201;1.5e-06) GTTCTTACAGGAGCTGTAGGG 0.562000 18 52 0 0 1 0 0 FAM131B 9715 broad.mit.edu 37 7 143056094 143056094 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:143056094G>A ENST00000409408.1 - 4 1916 c.208C>T c.(208-210)Cat>Tat p.H70Y FAM131B_ENST00000409346.1_Missense_Mutation_p.H70Y|FAM131B_ENST00000409222.3_Missense_Mutation_p.H70Y|FAM131B_ENST00000409578.1_Missense_Mutation_p.H86Y|FAM131B_ENST00000443739.2_Missense_Mutation_p.H98Y Q86XD5 F131B_HUMAN family with sequence similarity 131, member B 70 breast(1)|endometrium(4)|large_intestine(3)|lung(13)|ovary(1)|skin(2) 24 Melanoma(164;0.205) TTTGTCACATGGTCCTTCATG 0.572000 23 50 0 0 1 0 0 PDE6G 5148 broad.mit.edu 37 17 79618162 79618162 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:79618162G>A ENST00000573076.1 - 4 831 c.356C>T c.(355-357)cCt>cTt p.P119L PDE6G_ENST00000574777.1_5'UTR|PDE6G_ENST00000571224.1_Missense_Mutation_p.P69L|PDE6G_ENST00000571004.1_Missense_Mutation_p.P69L|PDE6G_ENST00000331056.5_Missense_Mutation_p.P69L P18545 CNRG_HUMAN phosphodiesterase 6G, cGMP-specific, rod, gamma 69 platelet activation|visual perception cytosol 3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|enzyme inhibitor activity lung(2)|urinary_tract(1) 3 all_neural(118;0.0878)|all_lung(278;0.175)|Lung NSC(278;0.192)|Melanoma(429;0.242) BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0739) GGCCTCCCAAGGGCAGATGAC 0.627000 25 82 0 0 1 0 0 ARMC12 221481 broad.mit.edu 37 6 35705867 35705867 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:35705867C>T ENST00000373866.3 + 2 249 c.227C>T c.(226-228)tCt>tTt p.S76F ARMC12_ENST00000288065.2_Missense_Mutation_p.S103F|ARMC12_ENST00000373869.3_Missense_Mutation_p.S76F Q5T9G4 CF081_HUMAN armadillo repeat containing 12 76 binding CTCCTCAACTCTTTGGAGTGC 0.592000 OREG0017379 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 59 177 0 0 1 0 0 TFR2 7036 broad.mit.edu 37 7 100238484 100238484 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:100238484C>T ENST00000462107.1 - 4 585 c.298G>A c.(298-300)Ggc>Agc p.G100S TFR2_ENST00000223051.3_Missense_Mutation_p.G100S|TFR2_ENST00000431692.1_Missense_Mutation_p.G100S Q9UP52 TFR2_HUMAN transferrin receptor 2 100 cellular iron ion homeostasis|iron ion transport|proteolysis cytoplasm|integral to plasma membrane peptidase activity|transferrin receptor activity central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 23 Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439) GCGACGTAGCCCAGTAGGAAG 0.602000 28 127 0 0 1 0 0 DSCR10 259234 broad.mit.edu 37 21 39580557 39580557 + RNA SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr21:39580557G>A ENST00000432141.1 + 0 679 NR_027695.1 GCCATCGAAGGAAAACCTTTA 0.403000 127 242 0 0 1 0 0 TDRD5 163589 broad.mit.edu 37 1 179631333 179631333 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:179631333G>A ENST00000444136.1 + 15 2667 c.2417G>A c.(2416-2418)gGa>gAa p.G806E TDRD5_ENST00000294848.8_Missense_Mutation_p.G752E|TDRD5_ENST00000367614.1_Missense_Mutation_p.G752E NM_001199085.1|NM_001199089.1 NP_001186014.1|NP_001186018.1 Q8NAT2 TDRD5_HUMAN tudor domain containing 5 802 DNA methylation involved in gamete generation|P granule organization|spermatid development chromatoid body|pi-body nucleic acid binding NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2) 77 GCTAAGATGGGAAAAGGAGGT 0.448000 59 65 0 0 1 0 0 ABRA 137735 broad.mit.edu 37 8 107781973 107781973 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:107781973C>T ENST00000311955.3 - 1 500 c.446G>A c.(445-447)aGa>aAa p.R149K NM_139166.4 NP_631905.1 Q8N0Z2 ABRA_HUMAN actin-binding Rho activating protein 149 positive regulation of Rho protein signal transduction|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent|transmembrane transport actin cytoskeleton|plasma membrane|sarcomere actin binding breast(1)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|prostate(2) 27 OV - Ovarian serous cystadenocarcinoma(57;3.83e-09) GTGGAGGATTCTGTCAATGTC 0.577000 107 191 0 0 1 0 0 BTBD10 84280 broad.mit.edu 37 11 13427328 13427328 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:13427328G>A ENST00000278174.5 - 7 1129 c.884C>T c.(883-885)cCt>cTt p.P295L BTBD10_ENST00000528120.1_Missense_Mutation_p.P247L|BTBD10_ENST00000530907.1_Missense_Mutation_p.P303L NM_032320.5 NP_115696.2 Q9BSF8 BTBDA_HUMAN BTB (POZ) domain containing 10 295 nucleus cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(7)|prostate(1) 20 Epithelial(150;0.0214) TACCATGAGAGGGAGGATCAT 0.418000 7 114 0 0 1 0 0 DNAH9 1770 broad.mit.edu 37 17 11622701 11622701 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:11622701C>T ENST00000262442.3 + 27 5671 c.5603C>T c.(5602-5604)cCc>cTc p.P1868L DNAH9_ENST00000454412.2_Missense_Mutation_p.P1868L NM_001372.3 NP_001363.2 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 1868 AAA 1 (By similarity). cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4) 290 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) AGTGGGGCTCCCGCAGGACCT 0.612000 23 53 0 0 1 0 0 FOXS1 2307 broad.mit.edu 37 20 30432521 30432521 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr20:30432521G>A ENST00000375978.3 - 1 899 c.825C>T c.(823-825)tcC>tcT p.S275S NM_004118.3 NP_004109.1 O43638 FOXS1_HUMAN forkhead box S1 275 anti-apoptosis|artery morphogenesis|blood vessel remodeling|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|insulin receptor signaling pathway|lymphangiogenesis|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|neural crest cell fate commitment|neuromuscular process controlling balance|Notch signaling pathway|ossification|paraxial mesodermal cell fate commitment|patterning of blood vessels|positive regulation of multicellular organism growth|positive regulation of transcription from RNA polymerase II promoter|regulation of blood vessel size|regulation of organ growth|somitogenesis|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis transcription factor complex chromatin DNA binding|DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding kidney(1)|large_intestine(3)|lung(3)|ovary(1)|urinary_tract(1) 9 GTGGTGCAGGGGAGGGGGCTG 0.657000 23 35 0 0 1 0 0 SLC35B2 347734 broad.mit.edu 37 6 44224515 44224515 + Nonsense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:44224515G>A ENST00000393812.3 - 2 255 c.112C>T c.(112-114)Cga>Tga p.R38* SLC35B2_ENST00000537814.1_Intron|SLC35B2_ENST00000538577.1_5'UTR|SLC35B2_ENST00000495706.1_Intron|SLC35B2_ENST00000393810.1_Nonsense_Mutation_p.R38* NM_178148.2 NP_835361.1 Q8TB61 S35B2_HUMAN solute carrier family 35 (adenosine 3'-phospho 5'-phosphosulfate transporter), member B2 38 positive regulation of I-kappaB kinase/NF-kappaB cascade Golgi membrane|integral to membrane 3'-phosphoadenosine 5'-phosphosulfate transmembrane transporter activity|signal transducer activity breast(1)|central_nervous_system(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(2)|urinary_tract(1) 15 all_cancers(18;2e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) ACCACAAATCGGAAGAACCAT 0.597000 55 247 0 0 1 0 0 SLC5A4 6527 broad.mit.edu 37 22 32626955 32626955 + Splice_Site SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr22:32626955C>T ENST00000266086.4 - 10 1140 c.1129_splice c.e10+1 p.G377_splice RP1-90G24.10_ENST00000434942.1_RNA NM_014227.2 NP_055042.1 Q9NY91 SC5A4_HUMAN solute carrier family 5 (glucose activated ion channel), member 4 377 carbohydrate transport|sodium ion transport integral to membrane symporter activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|pancreas(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 ATTTTCCTACCTTGGGGCATC 0.527000 12 44 0 0 1 0 0 KIF4B 285643 broad.mit.edu 37 5 154394730 154394730 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:154394730C>T ENST00000435029.4 + 1 1471 c.1311C>T c.(1309-1311)ctC>ctT p.L437L NM_001099293.1 NP_001092763.1 Q2VIQ3 KIF4B_HUMAN kinesin family member 4B 437 axon guidance|blood coagulation|microtubule-based movement cytosol|microtubule|nuclear matrix ATP binding|DNA binding|microtubule motor activity breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1) 58 Renal(175;0.00488) Medulloblastoma(196;0.0523) KIRC - Kidney renal clear cell carcinoma(527;0.00112) TAGAAGAGCTCAGGCAGCATG 0.463000 51 93 0 0 1 0 0 DHTKD1 55526 broad.mit.edu 37 10 12160870 12160870 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:12160870C>T ENST00000263035.4 + 15 2587 c.2525C>T c.(2524-2526)cCg>cTg p.P842L NM_018706.5 NP_061176.3 Q96HY7 DHTK1_HUMAN dehydrogenase E1 and transketolase domain containing 1 842 glycolysis mitochondrion oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(1) 44 Renal(717;0.228) BRCA - Breast invasive adenocarcinoma(52;0.188) TGCCCCTTCCCGTTGGATTCT 0.438000 81 154 0 0 1 0 0 GPR98 84059 broad.mit.edu 37 5 89939665 89939665 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:89939665G>A ENST00000405460.2 + 14 2695 c.2599G>A c.(2599-2601)Gaa>Aaa p.E867K NM_032119.3 NP_115495.3 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 867 cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6) 269 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) CGGAGAACGGGAAAGCAAGTT 0.383000 3 15 0 0 1 0 0 MYO7A 4647 broad.mit.edu 37 11 76922323 76922323 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:76922323C>T ENST00000409709.3 + 45 6450 c.6178C>T c.(6178-6180)Ctg>Ttg p.L2060L MYO7A_ENST00000409619.2_Silent_p.L2011L|MYO7A_ENST00000458637.2_Silent_p.L2022L|MYO7A_ENST00000605744.1_3'UTR NM_000260.3 NP_000251.3 Q13402 MYO7A_HUMAN myosin VIIA 2060 FERM 2. actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse actin binding|ATP binding|calmodulin binding|microfilament motor activity NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 CCCCAAGCTGCTGCGGGAGCT 0.632000 3 11 0 0 1 0 0 OR4K2 390431 broad.mit.edu 37 14 20345266 20345266 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr14:20345266C>T ENST00000298642.2 + 1 876 c.840C>T c.(838-840)ccC>ccT p.P280P NM_001005501.1 NP_001005501.1 Q8NGD2 OR4K2_HUMAN olfactory receptor, family 4, subfamily K, member 2 280 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(16)|ovary(2)|skin(9)|upper_aerodigestive_tract(2) 43 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) TCTTTACTCCCACTCTGAACC 0.373000 31 63 0 0 1 0 0 ZNF229 7772 broad.mit.edu 37 19 44946768 44946768 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:44946768C>T ENST00000291187.4 - 4 394 c.72G>A c.(70-72)agG>agA p.R24R CTC-512J12.4_ENST00000588655.1_RNA|ZNF229_ENST00000591289.1_5'UTR|ZNF229_ENST00000588931.1_Silent_p.R24R NM_001278510.1 NP_001265439.1 Q9UJW7 ZN229_HUMAN zinc finger protein 229 24 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1) 45 Prostate(69;0.0352) TCTTCTCCTCCCTATCTTGGG 0.478000 49 95 0 0 1 0 0 AKR1B10 57016 broad.mit.edu 37 7 134222401 134222401 + Missense_Mutation SNP A A T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:134222401A>T ENST00000359579.4 + 7 1049 c.729A>T c.(727-729)aaA>aaT p.K243N NM_020299.4 NP_064695.3 O60218 AK1BA_HUMAN aldo-keto reductase family 1, member B10 (aldose reductase) 243 cellular aldehyde metabolic process|digestion|steroid metabolic process cytoplasm aldo-keto reductase (NADP) activity|protein binding NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(9)|skin(5) 20 AGCACAAAAAAACCGCAGCCC 0.443000 55 146 0 0 1 0 0 CRYBB2P1 1416 broad.mit.edu 37 22 25853322 25853322 + RNA SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr22:25853322C>T ENST00000354451.2 + 0 220 CTTCCACGCCCATGGCTACCA 0.542000 8 31 0 0 1 0 0 NINJ2 4815 broad.mit.edu 37 12 674431 674431 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:674431C>T ENST00000305108.4 - 3 817 c.537G>A c.(535-537)ctG>ctA p.L179L NINJ2_ENST00000397265.3_Silent_p.L126L|NINJ2_ENST00000542920.1_Silent_p.L97L NM_016533.4 NP_057617.2 Q9NZG7 NINJ2_HUMAN ninjurin 2 133 nervous system development|neuron cell-cell adhesion|tissue regeneration integral to plasma membrane large_intestine(3)|lung(1)|ovary(2) 6 all_cancers(10;0.0101)|all_epithelial(11;0.0174)|Ovarian(42;0.0512)|all_lung(10;0.103)|Lung NSC(10;0.185) OV - Ovarian serous cystadenocarcinoma(31;3.26e-05)|BRCA - Breast invasive adenocarcinoma(9;0.0508) CCCTGGCAGCCAGGAACCCTG 0.567000 15 38 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179616423 179616423 + Missense_Mutation SNP T T G TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:179616423T>G ENST00000360870.5 - 46 10926 c.10704A>C c.(10702-10704)aaA>aaC p.K3568N TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Intron|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000578746.1_RNA NM_133379.3 NP_596870.2 Q8WZ42 TITIN_HUMAN titin 3563 Ig-like 21. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) CTTGGACCCTTTTAATCTCTA 0.413000 9 183 0 0 1 0 0 TFAP2B 7021 broad.mit.edu 37 6 50803856 50803856 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:50803856G>A ENST00000263046.4 + 5 877 c.711G>A c.(709-711)gaG>gaA p.E237E TFAP2B_ENST00000393655.3_Silent_p.E228E Q92481 AP2B_HUMAN transcription factor AP-2 beta (activating enhancer binding protein 2 beta) 228 nervous system development|positive regulation of transcription from RNA polymerase II promoter protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity p.E228D(1) NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1) 40 Lung NSC(77;0.156) ACACCGGCGAGGTGTTTTGCT 0.493000 59 185 0 0 1 0 0 AE000661.37 0 broad.mit.edu 37 14 22934727 22934727 + RNA SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr14:22934727G>A ENST00000514473.2 - 0 225 TRDC_ENST00000390477.2_RNA|AE000661.37_ENST00000556777.1_RNA CCTGGGGAAGGGGGGTTTATG 0.398000 34 83 0 0 1 0 0 LOC148709 148709 broad.mit.edu 37 1 202843413 202843413 + RNA SNP G G T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:202843413G>T ENST00000456105.2 + 0 1365 NR_002929.2 GCAGGAGTAGGATGAATCAAG 0.493000 4 46 2.56e-06 2.5696e-06 1 1 0 BSN 8927 broad.mit.edu 37 3 49689307 49689307 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:49689307C>T ENST00000296452.4 + 5 2432 c.2318C>T c.(2317-2319)tCt>tTt p.S773F NM_003458.3 NP_003449.2 Q9UPA5 BSN_HUMAN bassoon presynaptic cytomatrix protein 773 synaptic transmission cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome metal ion binding breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 106 BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336) GCCTTTGACTCTGATGAGGAG 0.612000 27 48 0 0 1 0 0 LOC101927958 101927958 broad.mit.edu 37 2 239140724 239140724 + RNA SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:239140724G>A ENST00000456601.1 + 0 400 GATGCTGGCTGGAGAAATCCG 0.498000 7 28 0 0 1 0 0 GRIN2B 2904 broad.mit.edu 37 12 13906774 13906774 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:13906774C>T ENST00000279593.3 - 3 696 c.487G>A c.(487-489)Gaa>Aaa p.E163K NM_000834.3 NP_000825.2 Q13224 NMDE2_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2B 163 response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1) 143 Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) CAGTCATATTCTTCCATGATG 0.423000 27 62 0 0 1 0 0 BAI3 577 broad.mit.edu 37 6 69646544 69646544 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:69646544G>A ENST00000370598.1 + 5 1823 c.1002G>A c.(1000-1002)agG>agA p.R334R NM_001704.2 NP_001695.1 O60242 BAI3_HUMAN brain-specific angiogenesis inhibitor 3 334 TSP type-1 1. negative regulation of angiogenesis|neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 210 all_lung(197;0.212) GAGAATCAAGGGTTTGCAATA 0.473000 6 19 0 0 1 0 0 NELL2 4753 broad.mit.edu 37 12 45108461 45108461 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:45108461G>A ENST00000429094.2 - 10 1562 c.1058C>T c.(1057-1059)tCt>tTt p.S353F NELL2_ENST00000452445.2_Missense_Mutation_p.S353F|NELL2_ENST00000437801.2_Missense_Mutation_p.S403F|NELL2_ENST00000395487.2_Missense_Mutation_p.S352F|NELL2_ENST00000333837.4_Missense_Mutation_p.S376F|NELL2_ENST00000551601.1_Missense_Mutation_p.S352F|NELL2_ENST00000549027.1_Missense_Mutation_p.S352F NM_001145108.1 NP_001138580.1 Q99435 NELL2_HUMAN NEL-like 2 (chicken) 353 VWFC 2. cell adhesion extracellular region calcium ion binding|protein binding|structural molecule activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 65 Lung SC(27;0.192) Lung NSC(34;0.144) GBM - Glioblastoma multiforme(48;0.092) ACATACTCCAGAAGAGGAATA 0.313000 5 84 0 0 1 0 0 BASP1 10409 broad.mit.edu 37 5 17275823 17275823 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:17275823G>A ENST00000322611.3 + 2 758 c.498G>A c.(496-498)ggG>ggA p.G166G NM_001271606.1|NM_006317.3 NP_001258535.1|NP_006308.3 P80723 BASP1_HUMAN brain abundant, membrane attached signal protein 1 166 glomerular visceral epithelial cell differentiation|negative regulation of transcription, DNA-dependent cytoplasm|cytoskeleton|growth cone|nuclear speck|plasma membrane protein domain specific binding|transcription corepressor activity|transcription regulatory region DNA binding endometrium(1)|lung(8) 9 AAAGTGACGGGGCCCCAGCTT 0.682000 15 20 0 0 1 0 0 UGT2B28 54490 broad.mit.edu 37 4 70146499 70146499 + Missense_Mutation SNP T T C TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:70146499T>C ENST00000335568.5 + 1 283 c.281T>C c.(280-282)gTt>gCt p.V94A UGT2B28_ENST00000511240.1_Missense_Mutation_p.V94A NM_053039.1 NP_444267.1 Q9BY64 UDB28_HUMAN UDP glucuronosyltransferase 2 family, polypeptide B28 94 xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 31 Flunitrazepam(DB01544) ATGCAACAGGTTAAGAGATGG 0.323000 76 160 0 0 1 0 0 TP63 8626 broad.mit.edu 37 3 189612096 189612096 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:189612096C>T ENST00000264731.3 + 14 1937 c.1848C>T c.(1846-1848)ctC>ctT p.L616L TP63_ENST00000449992.1_Silent_p.L437L|TP63_ENST00000456148.1_Silent_p.L518L|TP63_ENST00000382063.4_Silent_p.L531L|TP63_ENST00000320472.5_3'UTR|TP63_ENST00000440651.2_Silent_p.L612L|TP63_ENST00000354600.5_Silent_p.L522L NM_001114978.1|NM_003722.4 NP_001108450.1|NP_003713.3 Q9H3D4 P63_HUMAN tumor protein p63 616 Transactivation inhibition. anti-apoptosis|cellular response to UV|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6) 61 all_cancers(143;3.35e-10)|Ovarian(172;0.0925) Lung(62;3.33e-05) GBM - Glioblastoma multiforme(93;0.0227) CTTCTCATCTCCTGCGGACCC 0.572000 HNSCC(45;0.13) 42 103 0 0 1 0 0 NOD2 64127 broad.mit.edu 37 16 50733611 50733611 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr16:50733611G>A ENST00000300589.2 + 2 391 c.286G>A c.(286-288)Ggt>Agt p.G96S NOD2_ENST00000526417.2_3'UTR NM_022162.1 NP_071445.1 Q9HC29 NOD2_HUMAN nucleotide-binding oligomerization domain containing 2 96 CARD 1. activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of gamma-delta T cell activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of Notch signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cell surface|cytosol|plasma membrane|vesicle ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3) 52 all_cancers(37;0.0156) CTGGAATAAGGGTACTTGGGC 0.652000 27 61 0 0 1 0 0 FAM83A 84985 broad.mit.edu 37 8 124219554 124219554 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:124219554G>A ENST00000518448.1 + 5 2945 c.931G>A c.(931-933)Gga>Aga p.G311R FAM83A_ENST00000318462.6_Missense_Mutation_p.G311R|FAM83A_ENST00000276699.6_Missense_Mutation_p.G311R|FAM83A_ENST00000546351.1_Missense_Mutation_p.G255R|FAM83A_ENST00000536633.1_Missense_Mutation_p.G311R|FAM83A_ENST00000522648.1_Missense_Mutation_p.G255R Q86UY5 FA83A_HUMAN family with sequence similarity 83, member A 311 breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(2)|skin(1) 17 Lung NSC(37;1.55e-09)|Ovarian(258;0.0205) STAD - Stomach adenocarcinoma(47;0.00527) CGTCCCGCCCGGAGCAGCCCC 0.711000 19 39 0 0 1 0 0 MDGA2 161357 broad.mit.edu 37 14 47566294 47566294 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr14:47566294G>A ENST00000426342.1 - 6 810 c.64C>T c.(64-66)Cct>Tct p.P22S MDGA2_ENST00000439988.2_Missense_Mutation_p.P251S|MDGA2_ENST00000399232.2_Missense_Mutation_p.P320S|MDGA2_ENST00000357362.3_Missense_Mutation_p.P22S NM_182830.3 NP_878250.2 Q7Z553 MDGA2_HUMAN MAM domain containing glycosylphosphatidylinositol anchor 2 251 SGQGVY -> EHLVIQ (in Ref. 2). spinal cord motor neuron differentiation anchored to membrane|plasma membrane breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5) 76 ACAACTATAGGATCATCCACC 0.428000 47 95 0 0 1 0 0 PGM2L1 283209 broad.mit.edu 37 11 74053669 74053669 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:74053669G>A ENST00000298198.4 - 12 1780 c.1469C>T c.(1468-1470)tCc>tTc p.S490F NM_173582.3 NP_775853.2 Q6PCE3 PGM2L_HUMAN phosphoglucomutase 2-like 1 490 glucose 1-phosphate metabolic process cytosol glucose-1,6-bisphosphate synthase activity|phosphoglucomutase activity NS(2)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 26 Breast(11;3.32e-06) CAAGAAATAGGAAGTTTTTGA 0.284000 41 88 0 0 1 0 0 C9orf89 84270 broad.mit.edu 37 9 95872963 95872963 + Silent SNP C C T rs145273328 byFrequency TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:95872963C>T ENST00000375464.2 + 3 392 c.264C>T c.(262-264)gcC>gcT p.A88A C9orf89_ENST00000488630.1_3'UTR NM_032310.3 NP_115686.3 Q96LW7 BINCA_HUMAN chromosome 9 open reading frame 89 88 CARD. negative regulation of I-kappaB kinase/NF-kappaB cascade cytosol|nucleus CARD domain binding endometrium(1)|kidney(1)|lung(3)|ovary(1)|skin(1) 7 ATATCCAtgcccagcccctgc 0.662000 37 70 0 0 1 0 0 RGS12 6002 broad.mit.edu 37 4 3319438 3319438 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:3319438C>T ENST00000336727.3 + 2 2445 c.1541C>T c.(1540-1542)tCc>tTc p.S514F RGS12_ENST00000382788.3_Missense_Mutation_p.S514F|RGS12_ENST00000344733.5_Missense_Mutation_p.S514F|RGS12_ENST00000543385.1_Missense_Mutation_p.S514F NM_002926.3 NP_002917.1 O14924 RGS12_HUMAN regulator of G-protein signaling 12 514 condensed nuclear chromosome|cytoplasm|plasma membrane GTPase activator activity|receptor signaling protein activity autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 UCEC - Uterine corpus endometrioid carcinoma (64;0.168) CCCCCAGCTTCCTTGAGGAGC 0.642000 28 73 0 0 1 0 0 BNIP1 662 broad.mit.edu 37 5 172578577 172578577 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:172578577C>T ENST00000231668.9 + 3 290 c.186C>T c.(184-186)ctC>ctT p.L62L BNIP1_ENST00000351486.5_Intron|BNIP1_ENST00000352523.6_Silent_p.L62L|BNIP1_ENST00000393770.4_Intron NM_013979.2 NP_053582.2 Q12981 SEC20_HUMAN BCL2/adenovirus E1B 19kDa interacting protein 1 59 anti-apoptosis|apoptosis|endoplasmic reticulum membrane fusion|endoplasmic reticulum organization|induction of apoptosis|vesicle-mediated transport integral to endoplasmic reticulum membrane|nuclear envelope|SNARE complex protein binding breast(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|skin(1) 11 Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351) Medulloblastoma(196;0.0208)|all_neural(177;0.0416) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183) AGCCAGTTCTCTATCAAAGGG 0.378000 21 64 0 0 1 0 0 TBC1D10A 83874 broad.mit.edu 37 22 30691028 30691028 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr22:30691028G>A ENST00000215790.7 - 5 705 c.541C>T c.(541-543)Cgt>Tgt p.R181C TBC1D10A_ENST00000403362.1_Missense_Mutation_p.R93C|TBC1D10A_ENST00000403477.3_Missense_Mutation_p.R188C|RP1-130H16.18_ENST00000447976.1_Missense_Mutation_p.R55C NM_031937.2 NP_114143.1 Q9BXI6 TB10A_HUMAN TBC1 domain family, member 10A 181 Rab-GAP TBC. intracellular|microvillus guanyl-nucleotide exchange factor activity|PDZ domain binding|Rab GTPase activator activity cervix(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 23 TTCAGCACACGGAATAGGTCC 0.642000 38 78 0 0 1 0 0 ZFPL1 7542 broad.mit.edu 37 11 64855506 64855506 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:64855506C>T ENST00000294258.3 + 8 1005 c.853C>T c.(853-855)Cgc>Tgc p.R285C NM_006782.3 NP_006773.2 O95159 ZFPL1_HUMAN zinc finger protein-like 1 285 regulation of transcription, DNA-dependent|vesicle-mediated transport Golgi apparatus|integral to membrane|nucleus DNA binding|zinc ion binding p.R285C(1) breast(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1) 11 CCTCATGTCTCGCCTAGGCCG 0.682000 74 169 0 0 1 0 0 OTOF 9381 broad.mit.edu 37 2 26702507 26702507 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:26702507C>T ENST00000272371.2 - 17 2053 c.1927G>A c.(1927-1929)Gaa>Aaa p.E643K OTOF_ENST00000403946.3_Missense_Mutation_p.E643K NM_194248.2 NP_919224.1 Q9HC10 OTOF_HUMAN otoferlin 643 cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane calcium ion binding NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 106 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CCATCAACTTCGTTCCCATAG 0.627000 23 41 0 0 1 0 0 RAD54L2 23132 broad.mit.edu 37 3 51697238 51697238 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:51697238C>T ENST00000409535.1 + 22 4331 c.4206C>T c.(4204-4206)tcC>tcT p.S1402S RAD54L2_ENST00000296477.3_Silent_p.S1096S NM_015106.2 NP_055921.2 Q9Y4B4 ARIP4_HUMAN RAD54-like 2 (S. cerevisiae) 1402 nucleus ATP binding|DNA binding|helicase activity NS(2)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|liver(2)|lung(9)|ovary(4)|skin(2) 31 BRCA - Breast invasive adenocarcinoma(193;0.000102)|Kidney(197;0.000758)|KIRC - Kidney renal clear cell carcinoma(197;0.000896) CTTTTCCTTCCCCTGTCTTGC 0.577000 53 90 0 0 1 0 0 HELZ 9931 broad.mit.edu 37 17 65083004 65083004 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:65083004G>A ENST00000358691.5 - 32 5601 c.5435C>T c.(5434-5436)cCt>cTt p.P1812L HELZ_ENST00000580168.1_Missense_Mutation_p.P1813L NM_014877.3 NP_055692.2 helicase with zinc finger NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13) GTTCTGATAAGGAGTAGATGA 0.473000 105 127 0 0 1 0 0 BCAM 4059 broad.mit.edu 37 19 45322619 45322619 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:45322619C>T ENST00000391955.1 + 12 1534 c.1490C>T c.(1489-1491)cCc>cTc p.P497L BCAM_ENST00000270233.6_Missense_Mutation_p.P497L P50895 BCAM_HUMAN basal cell adhesion molecule (Lutheran blood group) 497 Ig-like C2-type 3. cell-matrix adhesion integral to plasma membrane laminin binding|laminin receptor activity central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 22 Lung NSC(12;0.000789)|all_lung(12;0.00218) Ovarian(192;0.0728)|all_neural(266;0.112) GAGCCAATCCCCGGACGGCAG 0.662000 44 119 0 0 1 0 0 R3HDM1 23518 broad.mit.edu 37 2 136399307 136399307 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:136399307C>T ENST00000264160.4 + 15 1791 c.1421C>T c.(1420-1422)cCc>cTc p.P474L R3HDM1_ENST00000329971.3_Intron|R3HDM1_ENST00000410054.1_Missense_Mutation_p.P418L|R3HDM1_ENST00000443537.2_Intron|R3HDM1_ENST00000409606.1_Missense_Mutation_p.P474L|R3HDM1_ENST00000409478.1_Intron NM_015361.2 NP_056176.2 Q15032 R3HD1_HUMAN R3H domain containing 1 474 nucleic acid binding breast(2)|endometrium(6)|kidney(5)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3) 38 BRCA - Breast invasive adenocarcinoma(221;0.127) TTTTTGCTTCCCTTGGAAGCG 0.453000 6 170 0 0 1 0 0 LRP3 4037 broad.mit.edu 37 19 33698322 33698322 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:33698322G>A ENST00000253193.7 + 7 2356 c.2154G>A c.(2152-2154)cgG>cgA p.R718R NM_002333.3 NP_002324.2 O75074 LRP3_HUMAN low density lipoprotein receptor-related protein 3 718 receptor-mediated endocytosis coated pit|integral to membrane receptor activity breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2) 15 Esophageal squamous(110;0.137) ATGCACCTCGGGAGCCCTGCT 0.697000 13 13 0 0 1 0 0 SPTA1 6708 broad.mit.edu 37 1 158582715 158582715 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:158582715G>A ENST00000368148.3 - 51 7206 c.7026C>T c.(7024-7026)ttC>ttT p.F2342F SPTA1_ENST00000368147.3_Silent_p.F2339F NM_003126.2 NP_003117.2 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 (elliptocytosis 2) 2342 EF-hand 2. actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6) 307 all_hematologic(112;0.0378) TGTCAATCAGGAAAGCAGTAT 0.458000 15 82 0 0 1 0 0 TTLL10 254173 broad.mit.edu 37 1 1118404 1118404 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:1118404G>A ENST00000379290.1 + 11 1238 c.1065G>A c.(1063-1065)ggG>ggA p.G355G TTLL10_ENST00000379288.3_Silent_p.G282G|TTLL10_ENST00000379289.1_Silent_p.G355G Q6ZVT0 TTL10_HUMAN tubulin tyrosine ligase-like family, member 10 355 TTL. protein modification process ATP binding|tubulin-tyrosine ligase activity haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(2)|skin(1) 7 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217) Epithelial(90;4.75e-36)|OV - Ovarian serous cystadenocarcinoma(86;5.82e-22)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;4.22e-05)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199) CGTTCCGGGGGCCTCAGGCGC 0.716000 8 16 0 0 1 0 0 DRC1 92749 broad.mit.edu 37 2 26667678 26667678 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:26667678G>A ENST00000288710.2 + 10 1332 c.1258G>A c.(1258-1260)Gac>Aac p.D420N DRC1_ENST00000483675.1_3'UTR NM_145038.2 NP_659475.2 dynein regulatory complex subunit 1 homolog (Chlamydomonas) CTTTGATGTggacaggatcat 0.493000 21 46 0 0 1 0 0 ZNF667 63934 broad.mit.edu 37 19 56969549 56969549 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:56969549C>T ENST00000591790.1 - 4 1656 c.228G>A c.(226-228)gaG>gaA p.E76E ZNF667_ENST00000292069.6_Silent_p.E76E|ZNF667_ENST00000504904.3_Silent_p.E76E|ZNF667_ENST00000342634.3_Silent_p.E169E Q5HYK9 ZN667_HUMAN zinc finger protein 667 76 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3) 38 Colorectal(82;0.000256)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0615) TTCTTACTGGCTCTACCATCC 0.478000 24 45 0 0 1 0 0 ULK4 54986 broad.mit.edu 37 3 41439679 41439679 + Missense_Mutation SNP T T C TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:41439679T>C ENST00000301831.4 - 35 4031 c.3569A>G c.(3568-3570)gAa>gGa p.E1190G NM_017886.2 NP_060356.2 Q96C45 ULK4_HUMAN unc-51 like kinase 4 1190 ATP binding|protein serine/threonine kinase activity breast(2)|cervix(1)|large_intestine(6)|lung(7)|prostate(5)|skin(1) 22 KIRC - Kidney renal clear cell carcinoma(284;0.214) GTCCGGGTTTTCCCCTCCATA 0.413000 10 115 0 0 1 0 0 PITPNM3 83394 broad.mit.edu 37 17 6381376 6381376 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:6381376G>A ENST00000262483.8 - 8 906 c.819C>T c.(817-819)ttC>ttT p.F273F ACKR6_ENST00000421306.3_Silent_p.F237F NM_031220.3 NP_112497.2 AGATGGCATCGAAGGCCAGGA 0.672000 31 98 0 0 1 0 0 IGKV1-27 28935 broad.mit.edu 37 2 89513332 89513332 + RNA SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:89513332G>A ENST00000498435.1 - 0 81 CCTTACCTGGGAGCCAGAGCA 0.488000 30 103 0 0 1 0 0 GPR137C 283554 broad.mit.edu 37 14 53020228 53020228 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr14:53020228C>T ENST00000321662.6 + 1 363 c.363C>T c.(361-363)ttC>ttT p.F121F NM_001099652.1 NP_001093122.1 Q8N3F9 G137C_HUMAN G protein-coupled receptor 137C 121 integral to membrane NS(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1) 8 Breast(41;0.0716) ACCTGCACTTCTTCCCCCACT 0.667000 30 72 0 0 1 0 0 FCRL1 115350 broad.mit.edu 37 1 157773789 157773789 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:157773789G>A ENST00000358292.3 - 3 216 c.165C>T c.(163-165)ttC>ttT p.F55F FCRL1_ENST00000489998.1_5'UTR|FCRL1_ENST00000368176.3_Silent_p.F55F|FCRL1_ENST00000491942.1_Silent_p.F55F NM_001159397.1 NP_001152869.1 Q96LA6 FCRL1_HUMAN Fc receptor-like 1 55 Ig-like C2-type 1. integral to membrane|plasma membrane receptor activity breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(24)|ovary(4)|prostate(1)|skin(6) 42 all_hematologic(112;0.0378) LUSC - Lung squamous cell carcinoma(543;0.24) GGGTGTCTCTGAAAAAGCAGA 0.592000 106 123 0 0 1 0 0 DSC3 1825 broad.mit.edu 37 18 28588280 28588280 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr18:28588280C>T ENST00000434452.1 - 10 1629 c.1475G>A c.(1474-1476)gGc>gAc p.G492D DSC3_ENST00000360428.4_Missense_Mutation_p.G492D NM_024423.2 NP_077741.2 Q14574 DSC3_HUMAN desmocollin 3 492 Cadherin 4. homophilic cell adhesion|protein stabilization desmosome|integral to membrane|membrane fraction calcium ion binding|gamma-catenin binding endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 56 OV - Ovarian serous cystadenocarcinoma(10;0.125) TGCCTTATAGCCGTTGATCTT 0.393000 23 34 0 0 1 0 0 TNFRSF21 27242 broad.mit.edu 37 6 47253766 47253766 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:47253766G>A ENST00000296861.2 - 2 1055 c.662C>T c.(661-663)aCc>aTc p.T221I NM_014452.3 NP_055267.1 O75509 TNR21_HUMAN tumor necrosis factor receptor superfamily, member 21 221 cellular lipid metabolic process cytoplasm|integral to membrane protein binding|receptor activity breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(7)|pancreas(1)|skin(2) 21 Lung(136;0.189) GGAAGGTGAGGTGGAGCTGGA 0.547000 30 109 0 0 1 0 0 GCG 2641 broad.mit.edu 37 2 163002090 163002090 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:163002090C>T ENST00000418842.2 - 4 606 c.352G>A c.(352-354)Gaa>Aaa p.E118K GCG_ENST00000375497.3_Missense_Mutation_p.E118K NM_002054.4 NP_002045.1 P01275 GLUC_HUMAN glucagon 118 cell proliferation|cellular response to glucagon stimulus|energy reserve metabolic process|feeding behavior|regulation of insulin secretion plasma membrane|soluble fraction hormone activity breast(1)|central_nervous_system(1)|large_intestine(3)|lung(9) 14 Exenatide(DB01276)|Phentolamine(DB00692) GCAATGAATTCCTTGGCAGCT 0.418000 62 150 0 0 1 0 0 TBC1D15 64786 broad.mit.edu 37 12 72274263 72274263 + Silent SNP T T G TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:72274263T>G ENST00000550746.1 + 4 283 c.219T>G c.(217-219)gtT>gtG p.V73V TBC1D15_ENST00000319106.8_Silent_p.V81V|TBC1D15_ENST00000393309.3_5'UTR|TBC1D15_ENST00000485960.2_Silent_p.V73V NM_001146213.1|NM_022771.4 NP_001139685.2|NP_073608.4 Q8TC07 TBC15_HUMAN TBC1 domain family, member 15 73 protein binding|Rab GTPase activator activity NS(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 CCAGTTCAGTTGTAGAATGGA 0.328000 8 12 0 0 1 0 0 GADL1 339896 broad.mit.edu 37 3 30875725 30875725 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:30875725G>A ENST00000454381.3 - 10 998 c.952C>T c.(952-954)Ctg>Ttg p.L318L GADL1_ENST00000282538.5_Silent_p.L318L Q6ZQY3 GADL1_HUMAN glutamate decarboxylase-like 1 318 carboxylic acid metabolic process carboxy-lyase activity|pyridoxal phosphate binding breast(2)|endometrium(3)|kidney(2)|lung(17)|upper_aerodigestive_tract(1) 25 Pyridoxal Phosphate(DB00114) ATGCCATGCAGAAGCTTGCGG 0.408000 37 77 0 0 1 0 0 SPHKAP 80309 broad.mit.edu 37 2 228882449 228882449 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:228882449C>T ENST00000392056.3 - 7 3167 c.3121G>A c.(3121-3123)Gaa>Aaa p.E1041K SPHKAP_ENST00000344657.5_Missense_Mutation_p.E1041K NM_001142644.1 NP_001136116.1 Q2M3C7 SPKAP_HUMAN SPHK1 interactor, AKAP domain containing 1041 cytoplasm protein binding NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 185 Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23) Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232) GCTGCCACTTCATTGGCAAAA 0.512000 65 122 0 0 1 0 0 TYK2 7297 broad.mit.edu 37 19 10476346 10476346 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:10476346G>A ENST00000525621.1 - 7 1339 c.858C>T c.(856-858)gcC>gcT p.A286A TYK2_ENST00000529370.1_Silent_p.A286A|TYK2_ENST00000264818.6_Silent_p.A286A|TYK2_ENST00000524462.1_Silent_p.A101A NM_003331.4 NP_003322.3 P29597 TYK2_HUMAN tyrosine kinase 2 286 FERM. intracellular protein kinase cascade|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway cytoskeleton|cytosol|membrane|nucleus ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 64 OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06) GCTCCCCCTCGGCCTGGGCCA 0.672000 21 28 0 0 1 0 0 OR2T3 343173 broad.mit.edu 37 1 248637149 248637149 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:248637149C>T ENST00000359594.2 + 1 523 c.498C>T c.(496-498)ccC>ccT p.P166P NM_001005495.1 NP_001005495.1 Q8NH03 OR2T3_HUMAN olfactory receptor, family 2, subfamily T, member 3 166 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|endometrium(5)|lung(19)|ovary(1)|prostate(1)|skin(3) 31 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) TGCTCACCCCCATTACCATGA 0.532000 43 35 0 0 1 0 0 CAPN11 11131 broad.mit.edu 37 6 44137184 44137184 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:44137184C>T ENST00000542245.1 + 3 293 c.255C>T c.(253-255)ttC>ttT p.F85F CAPN11_ENST00000398776.1_Silent_p.F85F Q9UMQ6 CAN11_HUMAN calpain 11 85 Calpain catalytic. proteolysis acrosomal vesicle calcium ion binding|calcium-dependent cysteine-type endopeptidase activity breast(3)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1) 36 all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) ACCCCTTATTCCCTGCTGAAC 0.587000 4 21 0 0 1 0 0 NEBL 10529 broad.mit.edu 37 10 21101739 21101739 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:21101739G>A ENST00000377122.4 - 24 2873 c.2477C>T c.(2476-2478)cCt>cTt p.P826L NEBL_ENST00000417816.2_Missense_Mutation_p.P163L|NEBL_ENST00000377159.4_Missense_Mutation_p.P129L NM_006393.2 NP_006384.1 O76041 NEBL_HUMAN nebulette 826 regulation of actin filament length actin binding|structural constituent of muscle NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 70 CACGATGTGAGGGTGGACCCC 0.547000 7 94 0 0 1 0 0 ALS2CL 259173 broad.mit.edu 37 3 46722784 46722784 + Nonsense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:46722784C>T ENST00000318962.4 - 13 1471 c.1388G>A c.(1387-1389)tGg>tAg p.W463* ALS2CL_ENST00000415953.1_Nonsense_Mutation_p.W463* NM_147129.3 NP_667340.2 Q60I27 AL2CL_HUMAN ALS2 C-terminal like 463 endosome organization|regulation of Rho protein signal transduction GTPase activator activity|identical protein binding|Rho guanyl-nucleotide exchange factor activity NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(3)|stomach(2) 29 BRCA - Breast invasive adenocarcinoma(193;0.000726)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202) GCCCCTCTCCCAGTGGCCCGT 0.672000 94 179 0 0 1 0 0 KIAA1199 57214 broad.mit.edu 37 15 81201492 81201492 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr15:81201492G>A ENST00000394685.3 + 14 2061 c.1642G>A c.(1642-1644)Gga>Aga p.G548R RP11-351M8.2_ENST00000560873.1_RNA|RP11-351M8.1_ENST00000560560.1_Intron|KIAA1199_ENST00000220244.3_Missense_Mutation_p.G548R|KIAA1199_ENST00000356249.5_Missense_Mutation_p.G548R Q8WUJ3 K1199_HUMAN KIAA1199 548 breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 49 GAAGCATATGGGACAGCAGCT 0.552000 19 52 0 0 1 0 0 RBPMS 11030 broad.mit.edu 37 8 30361814 30361814 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:30361814C>T ENST00000320203.4 + 5 840 c.258C>T c.(256-258)ttC>ttT p.F86F RBPMS_ENST00000287771.5_Silent_p.F86F|RBPMS_ENST00000397323.4_Silent_p.F86F|RBPMS_ENST00000517860.1_Silent_p.F86F|RBPMS_ENST00000519647.1_5'UTR|RBPMS_ENST00000538486.1_Silent_p.F86F|RBPMS_ENST00000520191.1_5'UTR|RBPMS_ENST00000339877.4_Silent_p.F86F|RBPMS_ENST00000520161.1_5'UTR NM_006867.2 NP_006858.1 Q93062 RBPMS_HUMAN RNA binding protein with multiple splicing 86 RRM. positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent cytoplasm|nucleus nucleotide binding|poly(A) RNA binding|protein binding|transcription coactivator activity p.F86F(2) autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 13 KIRC - Kidney renal clear cell carcinoma(542;0.144)|Kidney(114;0.172) GCATCCGCTTCGATCCTGAAA 0.448000 97 120 0 0 1 0 0 OR2B3 442184 broad.mit.edu 37 6 29055016 29055016 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:29055016C>T ENST00000377173.2 - 1 74 c.10G>A c.(10-12)Gaa>Aaa p.E4K NM_001005226.2 NP_001005226.1 olfactory receptor, family 2, subfamily B, member 3 p.E4*(1) breast(1)|endometrium(1)|kidney(2)|lung(17)|prostate(1)|skin(2) 24 CTCTCATTTTCCCAATTCATG 0.363000 17 61 0 0 1 0 0 FHDC1 85462 broad.mit.edu 37 4 153897628 153897628 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:153897628G>A ENST00000511601.1 + 12 3373 c.3185G>A c.(3184-3186)cGg>cAg p.R1062Q FHDC1_ENST00000260008.3_Missense_Mutation_p.R1062Q Q9C0D6 FHDC1_HUMAN FH2 domain containing 1 1062 actin cytoskeleton organization actin binding ARFIP1/FHDC1(2) NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 43 all_hematologic(180;0.093) GGCATCACTCGGACAGTGTCG 0.657000 51 86 0 0 1 0 0 TMEM100 55273 broad.mit.edu 37 17 53798276 53798276 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:53798276G>A ENST00000575734.1 - 4 964 c.156C>T c.(154-156)tcC>tcT p.S52S TMEM100_ENST00000424486.2_Silent_p.S52S NM_001099640.1 NP_001093110.1 Q9NV29 TM100_HUMAN transmembrane protein 100 52 integral to membrane cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|skin(2)|upper_aerodigestive_tract(1) 11 AGCGGTAGCAGGAGAGCTCGG 0.547000 36 126 0 0 1 0 0 GALNT5 11227 broad.mit.edu 37 2 158157222 158157222 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:158157222C>T ENST00000259056.4 + 7 2635 c.2150C>T c.(2149-2151)cCc>cTc p.P717L NM_014568.1 NP_055383.1 Q7Z7M9 GALT5_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 5 (GalNAc-T5) 717 Catalytic subdomain B. glycosaminoglycan biosynthetic process Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding breast(4)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2) 56 GAGATCATTCCCTGCTCCCGA 0.448000 37 93 0 0 1 0 0 PODN 127435 broad.mit.edu 37 1 53543377 53543377 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:53543377C>T ENST00000371500.3 + 9 1187 c.846C>T c.(844-846)atC>atT p.I282I RP11-334A14.5_ENST00000447867.1_RNA|PODN_ENST00000312553.5_Silent_p.I301I|PODN_ENST00000395871.2_Silent_p.I159I NM_001199080.1 NP_001186009.1 Q7Z5L7 PODN_HUMAN podocan 253 negative regulation of cell migration|negative regulation of cell proliferation cytoplasm|extracellular space|proteinaceous extracellular matrix collagen binding breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 33 TGGAGAAGATCCCCCCGGGGG 0.617000 68 202 0 0 1 0 0 KIAA2022 340533 broad.mit.edu 37 X 73960771 73960771 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chrX:73960771C>T ENST00000373468.1 - 3 4272 c.3621G>A c.(3619-3621)ggG>ggA p.G1207G KIAA2022_ENST00000055682.5_Silent_p.G1207G Q5QGS0 K2022_HUMAN KIAA2022 1207 base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle delta DNA polymerase complex 3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3) 109 GTTTTTCAATCCCCTTGTTGT 0.438000 40 24 0 0 1 0 0 PLB1 151056 broad.mit.edu 37 2 28863796 28863796 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:28863796G>A ENST00000422425.2 + 56 4113 c.4069G>A c.(4069-4071)Gaa>Aaa p.E1357K PLB1_ENST00000327757.5_Missense_Mutation_p.E1368K|PLB1_ENST00000541605.1_Missense_Mutation_p.E333K|AC074011.2_ENST00000431376.1_RNA NM_001170585.1 NP_001164056.1 Q6P1J6 PLB1_HUMAN phospholipase B1 1368 4 X 308-326 AA approximate repeats. lipid catabolic process|retinoid metabolic process|steroid metabolic process apical plasma membrane|integral to membrane lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2) 69 Acute lymphoblastic leukemia(172;0.155) TCTCCAGCTGGAACCAGTGGG 0.587000 12 34 0 0 1 0 0 GK2 2712 broad.mit.edu 37 4 80329073 80329073 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:80329073C>T ENST00000358842.3 - 1 299 c.282G>A c.(280-282)agG>agA p.R94R NM_033214.2 NP_149991.2 Q14410 GLPK2_HUMAN glycerol kinase 2 94 glycerol-3-phosphate metabolic process mitochondrial outer membrane ATP binding|glycerol kinase activity autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2) 39 CAGTGGTTTCCCTCTGATTGC 0.428000 67 169 0 0 1 0 0 KRT75 9119 broad.mit.edu 37 12 52818394 52818394 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:52818394G>A ENST00000252245.5 - 9 1783 c.1563C>T c.(1561-1563)ttC>ttT p.F521F RP11-1020M18.10_ENST00000548135.1_RNA NM_004693.2 NP_004684.2 O95678 K2C75_HUMAN keratin 75 521 Tail. keratin filament structural molecule activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(10)|prostate(1)|skin(1) 28 BRCA - Breast invasive adenocarcinoma(357;0.192) TGGTGGCACTGAATCCAGAAC 0.612000 102 167 0 0 1 0 0 GH2 2689 broad.mit.edu 37 17 61958096 61958096 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:61958096G>A ENST00000332800.7 - 4 625 c.492C>T c.(490-492)gcC>gcT p.A164A GH2_ENST00000456543.2_Intron|GH2_ENST00000449787.2_Intron|GH2_ENST00000423893.2_Intron NM_002059.4|NM_022557.3|NM_022558.3 NP_002050.1|NP_072051.1|NP_072052.1 P01242 SOM2_HUMAN growth hormone 2 0 extracellular region hormone activity breast(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2) 24 AAGCCAGTGGGGCCCCAGGAT 0.582000 139 127 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179399741 179399741 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:179399741C>T ENST00000589042.1 - 358 101825 c.101601G>A c.(101599-101601)ctG>ctA p.L33867L TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN_ENST00000359218.5_Silent_p.L24927L|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Silent_p.L32226L|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN_ENST00000342992.6_Silent_p.L31299L|TTN-AS1_ENST00000585487.1_RNA|TTN_ENST00000460472.2_Silent_p.L24802L|TTN_ENST00000342175.6_Silent_p.L24994L|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000419746.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 32226 Ig-like 149. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TAGCAATATTCAGAATGGAAA 0.343000 6 101 0 0 1 0 0 DIDO1 11083 broad.mit.edu 37 20 61538607 61538607 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr20:61538607G>A ENST00000266070.4 - 5 1591 c.1266C>T c.(1264-1266)gcC>gcT p.A422A DIDO1_ENST00000370366.1_Silent_p.A422A|DIDO1_ENST00000370371.4_Silent_p.A422A|DIDO1_ENST00000370368.1_Silent_p.A422A|DIDO1_ENST00000395335.2_Silent_p.A422A|DIDO1_ENST00000395343.1_Silent_p.A422A|DIDO1_ENST00000266071.5_Silent_p.A422A|DIDO1_ENST00000395340.1_Silent_p.A422A|DIDO1_ENST00000354665.4_Silent_p.A422A NM_033081.2 NP_149072.2 Q9BTC0 DIDO1_HUMAN death inducer-obliterator 1 422 apoptosis|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1) 99 Breast(26;5.68e-08) TTGTCGCTGCGGCGTGTTTGA 0.517000 112 268 0 0 1 0 0 ALLC 55821 broad.mit.edu 37 2 3726102 3726102 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:3726102G>A ENST00000252505.3 + 4 291 c.129G>A c.(127-129)ggG>ggA p.G43G NM_018436.3 NP_060906.3 Q8N6M5 ALLC_HUMAN allantoicase 62 allantoicase activity breast(4)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 30 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.088) all_cancers(51;0.24) OV - Ovarian serous cystadenocarcinoma(76;0.088)|all cancers(51;0.151)|Epithelial(75;0.206) CGGAGTTTGGGAAATGGATGG 0.463000 HNSCC(21;0.051) 22 31 0 0 1 0 0 SHROOM3 57619 broad.mit.edu 37 4 77660219 77660219 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:77660219G>A ENST00000296043.6 + 5 1846 c.893G>A c.(892-894)gGg>gAg p.G298E NM_020859.3 NP_065910.3 Q8TF72 SHRM3_HUMAN shroom family member 3 298 apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule actin binding NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1) 60 Lung(101;0.0903) CTCCTCGAAGGGATGAGGCAG 0.547000 20 60 0 0 1 0 0 DSP 1832 broad.mit.edu 37 6 7579663 7579663 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:7579663G>A ENST00000379802.3 + 23 3581 c.3240G>A c.(3238-3240)gaG>gaA p.E1080E DSP_ENST00000418664.2_Silent_p.E1080E NM_004415.2 NP_004406.2 P15924 DESP_HUMAN desmoplakin 1080 Central fibrous rod domain. cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural constituent of cytoskeleton biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5) 101 Ovarian(93;0.0584) all_hematologic(90;0.236) OV - Ovarian serous cystadenocarcinoma(45;0.000508) CGAGCCTGGAGGAGCTGAAGA 0.478000 47 155 0 0 1 0 0 SUPT6H 6830 broad.mit.edu 37 17 27028590 27028590 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:27028590C>T ENST00000314616.6 + 37 5411 c.5128C>T c.(5128-5130)Ccc>Tcc p.P1710S SUPT6H_ENST00000347486.4_Missense_Mutation_p.P1710S NM_003170.3 NP_003161.2 Q7KZ85 SPT6H_HUMAN suppressor of Ty 6 homolog (S. cerevisiae) 1710 chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter nucleus hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 Lung NSC(42;0.00431) CGAAAGCACCCCCATGTCCAT 0.632000 33 79 0 0 1 0 0 ACE 1636 broad.mit.edu 37 17 61570927 61570927 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:61570927C>T ENST00000577647.1 + 9 1366 c.1321C>T c.(1321-1323)Cat>Tat p.H441Y ACE_ENST00000428043.1_Missense_Mutation_p.H1015Y|ACE_ENST00000421982.2_Missense_Mutation_p.H261Y|ACE_ENST00000290863.6_Missense_Mutation_p.H441Y|ACE_ENST00000290866.4_Missense_Mutation_p.H1015Y|ACE_ENST00000413513.3_Missense_Mutation_p.H441Y|ACE_ENST00000490216.2_Missense_Mutation_p.H441Y P12821 ACE_HUMAN angiotensin I converting enzyme 1015 Peptidase M2 1. arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 51 Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519) CCCCGGCTTCCATGAGGCCAT 0.597000 43 110 0 0 1 0 0 APOB 338 broad.mit.edu 37 2 21225676 21225676 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:21225676C>T ENST00000233242.1 - 29 12745 c.12618G>A c.(12616-12618)ggG>ggA p.G4206G NM_000384.2 NP_000375.2 P04114 APOB_HUMAN apolipoprotein B 4206 cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity p.G4206G(1) NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6) 305 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) TCCCAGGTTTCCCCGGAAACT 0.438000 28 71 0 0 1 0 0 EFS 10278 broad.mit.edu 37 14 23829069 23829069 + Nonsense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr14:23829069C>T ENST00000216733.3 - 4 1225 c.618G>A c.(616-618)tgG>tgA p.W206* EFS_ENST00000429593.2_Intron|EFS_ENST00000351354.3_Nonsense_Mutation_p.W113* NM_005864.2 NP_005855.1 O43281 EFS_HUMAN embryonal Fyn-associated substrate 206 Pro-rich. cell adhesion|intracellular signal transduction cytoplasm SH3 domain binding endometrium(2)|kidney(1)|large_intestine(1)|liver(1)|lung(5)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2) 16 all_cancers(95;7.12e-06) GBM - Glioblastoma multiforme(265;0.00649) GGCCTCCTTCCCACTCCAGAT 0.617000 58 107 0 0 1 0 0 TSHZ3 57616 broad.mit.edu 37 19 31769066 31769066 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:31769066C>T ENST00000240587.4 - 2 1960 c.1633G>A c.(1633-1635)Ggg>Agg p.G545R NM_020856.2 NP_065907.2 Q63HK5 TSH3_HUMAN teashirt zinc finger homeobox 3 545 negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process growth cone|nucleus chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5) 123 Esophageal squamous(110;0.226) GGATAGCCCCCCCAGCTAGGA 0.557000 82 137 0 0 1 0 0 MRC2 9902 broad.mit.edu 37 17 60765873 60765873 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:60765873G>A ENST00000303375.5 + 22 3475 c.3073G>A c.(3073-3075)Gcc>Acc p.A1025T MRC2_ENST00000446119.2_5'UTR NM_006039.4 NP_006030.2 Q9UBG0 MRC2_HUMAN mannose receptor, C type 2 1025 C-type lectin 6. endocytosis integral to membrane receptor activity|sugar binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3) 53 ATTCATCACAGCCAGCCTGCC 0.547000 85 298 0 0 1 0 0 NFAT5 10725 broad.mit.edu 37 16 69727832 69727832 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr16:69727832C>T ENST00000349945.1 + 14 5374 c.3822C>T c.(3820-3822)ccC>ccT p.P1274P NFAT5_ENST00000393742.2_Silent_p.P1274P|NFAT5_ENST00000567239.1_Silent_p.P1367P|NFAT5_ENST00000566899.1_Silent_p.P1274P|NFAT5_ENST00000432919.1_Silent_p.P1368P|NFAT5_ENST00000354436.2_Silent_p.P1350P NM_138714.3 NP_619728.2 O94916 NFAT5_HUMAN nuclear factor of activated T-cells 5, tonicity-responsive 1350 excretion|signal transduction|transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 37 CACAGACCCCCTTGTTCCATA 0.483000 40 52 0 0 1 0 0 EXD3 54932 broad.mit.edu 37 9 140243568 140243568 + Silent SNP G G T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:140243568G>T ENST00000340951.4 - 16 2019 c.1824C>A c.(1822-1824)ccC>ccA p.P608P EXD3_ENST00000342129.4_Silent_p.P288P NM_017820.3 NP_060290.3 Q8N9H8 MUT7_HUMAN exonuclease 3'-5' domain containing 3 608 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process intracellular 3'-5' exonuclease activity|nucleic acid binding NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(2) 12 CCACCTGCCTGGGTGCGGCCG 0.647000 4 26 0.00909568 0.0091096 1 1 0 C7orf66 154907 broad.mit.edu 37 7 108524071 108524071 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:108524071C>T ENST00000379007.2 - 2 395 c.341G>A c.(340-342)gGa>gAa p.G114E NM_001024607.1 NP_001019778.1 A4D0T2 CG066_HUMAN chromosome 7 open reading frame 66 114 integral to membrane breast(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2) 15 TCCTTAATTTCCCATTTCCTT 0.323000 24 98 0 0 1 0 0 ADH1B 125 broad.mit.edu 37 4 100239311 100239311 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:100239311C>T ENST00000305046.8 - 3 218 c.151G>A c.(151-153)Gac>Aac p.D51N ADH1B_ENST00000394887.3_Missense_Mutation_p.D11N|ADH1B_ENST00000504498.1_5'UTR P00325 ADH1B_HUMAN alcohol dehydrogenase 1B (class I), beta polypeptide 51 ethanol oxidation|xenobiotic metabolic process cytosol alcohol dehydrogenase activity, zinc-dependent|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1) 33 OV - Ovarian serous cystadenocarcinoma(123;1.02e-07) Fomepizole(DB01213)|NADH(DB00157) ACCACGTGGTCATCTGTGTGA 0.463000 39 164 0 0 1 0 0 SPEF2 79925 broad.mit.edu 37 5 35814565 35814565 + Splice_Site SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:35814565G>A ENST00000356031.3 + 37 5533 c.e37-1 SPEF2_ENST00000303129.4_Splice_Site|CTD-2113L7.1_ENST00000510433.1_RNA NM_024867.3 NP_079143.3 Q9C093 SPEF2_HUMAN sperm flagellar 2 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 37 all_lung(31;7.56e-05) Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) TTTTGTCTTAGGATATTAAAA 0.313000 13 40 0 0 1 0 0 COL11A2 1302 broad.mit.edu 37 6 33137642 33137642 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:33137642C>T ENST00000341947.2 - 50 3883 c.3656G>A c.(3655-3657)gGa>gAa p.G1219E COL11A2_ENST00000361917.1_Missense_Mutation_p.G1112E|COL11A2_ENST00000374714.1_Missense_Mutation_p.G1193E|COL11A2_ENST00000477772.1_Intron|COL11A2_ENST00000374712.1_Missense_Mutation_p.G1138E|COL11A2_ENST00000374713.1_Missense_Mutation_p.G1172E|COL11A2_ENST00000395197.1_Missense_Mutation_p.G1159E|COL11A2_ENST00000357486.1_Missense_Mutation_p.G1198E|COL11A2_ENST00000374708.4_Missense_Mutation_p.G1133E NM_080680.2 NP_542411.2 P13942 COBA2_HUMAN collagen, type XI, alpha 2 1219 Triple-helical region. cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development collagen type XI extracellular matrix structural constituent conferring tensile strength|protein binding, bridging biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6) 68 CCCTGGAGATCCTGACTCTCC 0.537000 36 143 0 0 1 0 0 PCDHA8 56140 broad.mit.edu 37 5 140221558 140221558 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:140221558G>A ENST00000531613.1 + 1 652 c.652G>A c.(652-654)Ggc>Agc p.G218S PCDHA8_ENST00000378123.3_Missense_Mutation_p.G218S|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron NM_018911.2 NP_061734.1 NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6) 78 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CACAGATGGGGGCAAACCTGA 0.473000 4 107 0 0 1 0 0 MIR3654 100500804 broad.mit.edu 37 11 62356599 62356599 + Silent SNP A A G TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:62356599A>G ENST00000496634.2 - 2 222 c.177T>C c.(175-177)ttT>ttC p.F59F TUT1_ENST00000476907.1_Silent_p.F59F|TUT1_ENST00000308436.7_Silent_p.F97F NS(1) 1 AGCCACTGACAAACACACTTC 0.542000 7 74 0 0 1 0 0 MAEL 84944 broad.mit.edu 37 1 166960705 166960705 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:166960705G>A ENST00000367872.4 + 3 560 c.316G>A c.(316-318)Ggt>Agt p.G106S MAEL_ENST00000491055.1_3'UTR|MAEL_ENST00000367870.2_Missense_Mutation_p.G75S NM_032858.1 NP_116247.1 Q96JY0 MAEL_HUMAN maelstrom spermatogenic transposon silencer 106 cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|multicellular organismal development|piRNA metabolic process|spermatogenesis piP-body DNA binding breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(12)|skin(4) 28 GTCTTTAAAAGGTGATCAAGG 0.368000 8 208 0 0 1 0 0 ELTD1 64123 broad.mit.edu 37 1 79358801 79358801 + Missense_Mutation SNP C C A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:79358801C>A ENST00000370742.3 - 13 1886 c.1823G>T c.(1822-1824)aGt>aTt p.S608I NM_022159.3 NP_071442.2 Q9HBW9 ELTD1_HUMAN EGF, latrophilin and seven transmembrane domain containing 1 608 neuropeptide signaling pathway integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 69 COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148) CTCAAAGCAACTAACTTCTGG 0.308000 11 56 0.010729 0.0107436 1 1 0 OPRD1 4985 broad.mit.edu 37 1 29189522 29189522 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:29189522C>T ENST00000234961.2 + 3 1088 c.846C>T c.(844-846)atC>atT p.I282I NM_000911.3 NP_000902.3 P41143 OPRD_HUMAN opioid receptor, delta 1 282 immune response|protein import into nucleus, translocation integral to plasma membrane delta-opioid receptor activity|protein binding breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 Colorectal(325;3.46e-05)|Lung NSC(340;0.000947)|all_lung(284;0.00131)|Renal(390;0.00758)|Breast(348;0.00765)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123) Colorectal(126;1.29e-07)|COAD - Colon adenocarcinoma(152;7.51e-06)|STAD - Stomach adenocarcinoma(196;0.00306)|BRCA - Breast invasive adenocarcinoma(304;0.0241)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.147) Butorphanol(DB00611)|Codeine(DB00318)|Fentanyl(DB00813)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Loperamide(DB00836)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pimozide(DB01100)|Propoxyphene(DB00647) TCTTCGTCATCGTCTGGACGC 0.667000 5 24 0 0 1 0 0 POLQ 10721 broad.mit.edu 37 3 121260237 121260237 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:121260237G>A ENST00000264233.5 - 3 561 c.433C>T c.(433-435)Ccc>Tcc p.P145S NM_199420.3 NP_955452.3 O75417 DPOLQ_HUMAN polymerase (DNA directed), theta 145 Helicase ATP-binding. DNA repair|DNA replication nucleoplasm ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2) 120 GBM - Glioblastoma multiforme(114;0.0915) GAAACAAAGGGAAGAATAAAC 0.378000 DNA polymerases (catalytic subunits) 5 279 0 0 1 0 0 LCT 3938 broad.mit.edu 37 2 136561646 136561646 + Nonsense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:136561646C>T ENST00000264162.2 - 11 4527 c.4517G>A c.(4516-4518)tGg>tAg p.W1506* NM_002299.2 NP_002290.2 P09848 LPH_HUMAN lactase 1506 4 X approximate repeats. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|integral to plasma membrane|membrane fraction cation binding|glycosylceramidase activity|lactase activity breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4) 124 BRCA - Breast invasive adenocarcinoma(221;0.169) CTCATTCTCCCAGCCTCCTAC 0.527000 42 85 0 0 1 0 0 MYH13 8735 broad.mit.edu 37 17 10243511 10243511 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:10243511G>A ENST00000418404.3 - 17 2175 c.2012C>T c.(2011-2013)cCt>cTt p.P671L MYH13_ENST00000252172.4_Missense_Mutation_p.P671L|MYH13_ENST00000570743.1_Missense_Mutation_p.P671L|RP11-401O9.3_ENST00000577743.1_RNA Q9UKX3 MYH13_HUMAN myosin, heavy chain 13, skeletal muscle 671 Actin-binding (By similarity).|Myosin head-like. muscle contraction muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|microfilament motor activity breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2) 108 TACAAAGTGAGGGTGGGTGCT 0.428000 10 19 0 0 1 0 0 STAT4 6775 broad.mit.edu 37 2 192012845 192012845 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:192012845C>T ENST00000392320.2 - 2 399 c.85G>A c.(85-87)Gaa>Aaa p.E29K STAT4_ENST00000358470.4_Missense_Mutation_p.E29K|STAT4_ENST00000409995.1_Missense_Mutation_p.E29K NM_003151.3 NP_003142.1 Q14765 STAT4_HUMAN signal transducer and activator of transcription 4 29 JAK-STAT cascade cytoplasm|nucleus calcium ion binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity breast(4)|endometrium(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1) 42 OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204) TGCCGAATTTCCATGGGAAAG 0.398000 48 73 0 0 1 0 0 GLB1L2 89944 broad.mit.edu 37 11 134214955 134214955 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:134214955C>T ENST00000535456.2 + 4 569 c.381C>T c.(379-381)atC>atT p.I127I GLB1L2_ENST00000389881.3_Silent_p.I127I|GLB1L2_ENST00000339772.7_Silent_p.I127I NM_138342.3 NP_612351.2 Q8IW92 GLBL2_HUMAN galactosidase, beta 1-like 2 127 carbohydrate metabolic process extracellular region cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 41 all_hematologic(175;0.127) all_cancers(12;2.85e-18)|all_epithelial(12;1.21e-12)|all_lung(97;0.000276)|Lung NSC(97;0.000518)|Breast(109;0.00122)|Medulloblastoma(222;0.0399)|all_neural(223;0.0412)|Esophageal squamous(93;0.0844) Epithelial(10;1.37e-11)|all cancers(11;2.2e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000885)|Lung(977;0.223) CCGCAGAGATCGGGCTGTGGG 0.662000 7 31 0 0 1 0 0 ARHGEF28 64283 broad.mit.edu 37 5 73205337 73205337 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:73205337C>T ENST00000545377.1 + 34 4438 c.4262C>T c.(4261-4263)cCc>cTc p.P1421L ARHGEF28_ENST00000296794.6_Missense_Mutation_p.P1421L|ARHGEF28_ENST00000426542.2_Missense_Mutation_p.P1421L|ARHGEF28_ENST00000513042.2_Missense_Mutation_p.P1421L|ARHGEF28_ENST00000287898.5_Missense_Mutation_p.P1377L|ARHGEF28_ENST00000296799.4_Missense_Mutation_p.P1108L|ARHGEF28_ENST00000512883.1_Missense_Mutation_p.P341L|ARHGEF28_ENST00000437974.1_Missense_Mutation_p.P1421L NM_001080479.2 NP_001073948.2 Rho guanine nucleotide exchange factor (GEF) 28 CGAGGCGGCCCCTTGCAGGAC 0.642000 5 13 0 0 1 0 0 PPFIA2 8499 broad.mit.edu 37 12 82147977 82147977 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:82147977C>T ENST00000550584.2 - 2 319 c.24G>A c.(22-24)acG>acA p.T8T PPFIA2_ENST00000548586.1_Silent_p.T8T|PPFIA2_ENST00000549325.1_Silent_p.T8T|PPFIA2_ENST00000552948.1_Silent_p.T8T|PPFIA2_ENST00000549396.1_Silent_p.T8T|PPFIA2_ENST00000333447.7_Silent_p.T8T NM_001220473.1 NP_001207402.1 B7Z663 B7Z663_HUMAN protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2 267 NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5) 85 CCTCATTAATCGTGGGCATCA 0.428000 5 10 0 0 1 0 0 OR2G3 81469 broad.mit.edu 37 1 247769807 247769807 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:247769807G>A ENST00000320002.2 + 1 952 c.920G>A c.(919-921)gGa>gAa p.G307E RP11-978I15.10_ENST00000435333.1_RNA|RP11-978I15.10_ENST00000446347.1_RNA NM_001001914.1 NP_001001914.1 Q8NGZ4 OR2G3_HUMAN olfactory receptor, family 2, subfamily G, member 3 307 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(31)|skin(5) 50 all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) OV - Ovarian serous cystadenocarcinoma(106;0.017) CTTCTCTCGGGAAAATTGTGA 0.383000 29 103 0 0 1 0 0 CYSLTR2 57105 broad.mit.edu 37 13 49281649 49281649 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr13:49281649G>A ENST00000282018.3 + 1 699 c.696G>A c.(694-696)gaG>gaA p.E232E NM_020377.2 NP_065110.1 Q9NS75 CLTR2_HUMAN cysteinyl leukotriene receptor 2 232 immune response integral to membrane|plasma membrane endometrium(2)|large_intestine(4)|lung(12)|skin(2) 20 all_cancers(8;1.66e-53)|all_epithelial(8;1.96e-19)|all_lung(13;9.94e-09)|all_hematologic(8;7.13e-07)|Lung NSC(96;1.72e-06)|Breast(56;1.53e-05)|Acute lymphoblastic leukemia(8;6.86e-05)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0416)|Lung SC(185;0.0787) GBM - Glioblastoma multiforme(99;1.19e-09) Nedocromil(DB00716) TAAAAGTGGAGGTCCCAGAAT 0.493000 54 83 0 0 1 0 0 DHRS9 10170 broad.mit.edu 37 2 169939937 169939937 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:169939937C>T ENST00000327239.4 + 6 1916 c.412C>T c.(412-414)Ctg>Ttg p.L138L DHRS9_ENST00000602501.1_Silent_p.L138L|DHRS9_ENST00000432060.2_Silent_p.L198L|DHRS9_ENST00000421653.1_5'UTR|DHRS9_ENST00000357546.2_Silent_p.L138L|DHRS9_ENST00000428522.1_Silent_p.L138L|DHRS9_ENST00000436483.2_Silent_p.L138L|DHRS9_ENST00000412271.1_Silent_p.L138L NM_005771.4 NP_005762.2 Q9BPW9 DHRS9_HUMAN dehydrogenase/reductase (SDR family) member 9 138 9-cis-retinoic acid biosynthetic process|androgen metabolic process|epithelial cell differentiation|progesterone metabolic process|retinol metabolic process integral to endoplasmic reticulum membrane|microsome alcohol dehydrogenase (NAD) activity|binding|racemase and epimerase activity|retinol dehydrogenase activity|testosterone dehydrogenase (NAD+) activity breast(1)|endometrium(3)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1) 13 TGAAGTGAACCTGTTTGGACT 0.483000 38 122 0 0 1 0 0 OTP 23440 broad.mit.edu 37 5 76934351 76934351 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:76934351C>T ENST00000306422.3 - 1 1162 c.24G>A c.(22-24)ctG>ctA p.L8L NM_032109.2 NP_115485.1 Q5XKR4 OTP_HUMAN orthopedia homeobox 8 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|pancreas(1) 13 all_lung(232;0.00051)|Lung NSC(167;0.000601)|Ovarian(174;0.0105)|Prostate(461;0.214) OV - Ovarian serous cystadenocarcinoma(54;9.04e-51)|Epithelial(54;1.62e-45)|all cancers(79;4.4e-41) GCCTGGCGTCCAGGAGGTCGG 0.527000 10 9 0 0 1 0 0 SLC12A9 56996 broad.mit.edu 37 7 100452326 100452326 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:100452326C>T ENST00000354161.3 + 3 391 c.266C>T c.(265-267)tCt>tTt p.S89F SLC12A9_ENST00000415287.1_Intron|SLC12A9_ENST00000275729.3_Intron|SLC12A9_ENST00000428758.1_Missense_Mutation_p.S89F|SLC12A9_ENST00000540482.1_Missense_Mutation_p.S89F NM_020246.3 NP_064631.2 Q9BXP2 S12A9_HUMAN solute carrier family 12, member 9 89 integral to membrane|plasma membrane cation:chloride symporter activity breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(20)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1) 41 Lung NSC(181;0.041)|all_lung(186;0.0581) ACCGTCCTCTCTGTCTGTGCC 0.627000 51 142 0 0 1 0 0 TECRL 253017 broad.mit.edu 37 4 65170939 65170939 + Nonsense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:65170939C>T ENST00000381210.3 - 7 785 c.675G>A c.(673-675)tgG>tgA p.W225* TECRL_ENST00000513125.1_5'UTR|TECRL_ENST00000507440.1_Nonsense_Mutation_p.W225* NM_001010874.4 NP_001010874.2 Q5HYJ1 TECRL_HUMAN trans-2,3-enoyl-CoA reductase-like 225 lipid metabolic process cytoplasm|integral to membrane oxidoreductase activity, acting on the CH-CH group of donors p.W225*(1) endometrium(2)|kidney(5)|large_intestine(7)|lung(30)|prostate(1)|skin(1)|stomach(1) 47 AAGTAAATCCCCAGTAAAAGG 0.313000 38 110 0 0 1 0 0 PNLDC1 154197 broad.mit.edu 37 6 160240383 160240383 + Splice_Site SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:160240383C>T ENST00000275275.5 + 18 1669 c.1499_splice c.e18+1 p.Q500_splice PNLDC1_ENST00000392167.3_Splice_Site_p.Q511_splice NM_001271862.1|NM_173516.1 NP_001258791.1|NP_775787.1 Q8NA58 PNDC1_HUMAN poly(A)-specific ribonuclease (PARN)-like domain containing 1 500 integral to membrane|nucleus nucleic acid binding autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1) 31 Breast(66;0.00519)|Ovarian(120;0.123) OV - Ovarian serous cystadenocarcinoma(65;1.55e-18)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06) CTGCCTGCTCCAGTAAGTGAC 0.627000 31 13 0 0 1 0 0 AAMP 14 broad.mit.edu 37 2 219131236 219131236 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:219131236G>A ENST00000248450.4 - 5 779 c.609C>T c.(607-609)gtC>gtT p.V203V AAMP_ENST00000444053.1_Silent_p.V204V|AAMP_ENST00000420660.1_Silent_p.V184V Q13685 AAMP_HUMAN angio-associated, migratory cell protein 203 angiogenesis|cell differentiation|positive regulation of endothelial cell migration|smooth muscle cell migration cell surface|cytoplasm|plasma membrane heparin binding haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(4)|ovary(2)|skin(1) 11 Renal(207;0.0474) Epithelial(149;7.19e-07)|all cancers(144;0.000131)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) CACCATTCGGGACTTTCCACA 0.622000 34 51 0 0 1 0 0 EXTL3 2137 broad.mit.edu 37 8 28574802 28574802 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:28574802C>T ENST00000220562.4 + 3 2128 c.1226C>T c.(1225-1227)cCg>cTg p.P409L EXTL3_ENST00000523149.1_Missense_Mutation_p.P25L|EXTL3_ENST00000519886.1_Intron NM_001440.2 NP_001431.1 O43909 EXTL3_HUMAN exostosin-like glycosyltransferase 3 409 integral to membrane|intrinsic to endoplasmic reticulum membrane glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|metal ion binding|protein binding biliary_tract(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(8)|ovary(1)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(1) 36 Ovarian(32;0.069) KIRC - Kidney renal clear cell carcinoma(542;0.107)|Kidney(114;0.129)|Colorectal(74;0.228) CCCAGCCTGCCGACTGAGTGG 0.597000 34 69 0 0 1 0 0 CR1 1378 broad.mit.edu 37 1 207753715 207753715 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:207753715C>T ENST00000367049.4 + 30 5067 c.5067C>T c.(5065-5067)caC>caT p.H1689H RP11-78B10.2_ENST00000596003.1_RNA|CR1_ENST00000400960.2_Silent_p.H1239H|CR1_ENST00000367052.1_Silent_p.H1239H|CR1_ENST00000367053.1_Silent_p.H1239H|RP11-78B10.2_ENST00000597497.1_RNA|CR1_ENST00000367051.1_Silent_p.H1239H NM_000651.4 NP_000642.3 P17927 CR1_HUMAN complement component (3b/4b) receptor 1 (Knops blood group) 1239 Sushi 26. complement activation, classical pathway|innate immune response integral to plasma membrane complement receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 82 CGTCTCTGCACTGCACACCCC 0.572000 119 132 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179583539 179583539 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:179583539C>T ENST00000589042.1 - 84 24612 c.24388G>A c.(24388-24390)Gat>Aat p.D8130N TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.D7813N|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.D6886N|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 7813 Ig-like 63. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GTGACAAAATCTTCCAGAGAG 0.488000 18 35 0 0 1 0 0 PHYHIPL 84457 broad.mit.edu 37 10 61005234 61005234 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:61005234G>A ENST00000373880.4 + 5 1278 c.1014G>A c.(1012-1014)gtG>gtA p.V338V PHYHIPL_ENST00000373878.3_Silent_p.V312V NM_032439.3 NP_115815.2 Q96FC7 PHIPL_HUMAN phytanoyl-CoA 2-hydroxylase interacting protein-like 338 NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(3)|skin(1)|urinary_tract(1) 18 CTGACCCTGTGGATCTTTCTG 0.433000 43 64 0 0 1 0 0 ABCD4 5826 broad.mit.edu 37 14 74766913 74766913 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr14:74766913G>A ENST00000356924.4 - 2 240 c.97C>T c.(97-99)Cct>Tct p.P33S ABCD4_ENST00000557588.1_Missense_Mutation_p.P33S|ABCD4_ENST00000557554.1_5'UTR|ABCD4_ENST00000298816.7_Intron NM_005050.3 NP_005041.1 O14678 ABCD4_HUMAN ATP-binding cassette, sub-family D (ALD), member 4 33 ATP-binding cassette (ABC) transporter complex|integral to membrane|peroxisomal membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances cervix(2)|endometrium(3)|kidney(3)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 27 BRCA - Breast invasive adenocarcinoma(234;0.00153) GACCAAGAAGGAAACAAAACC 0.512000 37 56 0 0 1 0 0 CST1 1469 broad.mit.edu 37 20 23728477 23728477 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr20:23728477C>T ENST00000304749.2 - 3 472 c.402G>A c.(400-402)gtG>gtA p.V134V CST1_ENST00000398402.1_Silent_p.V134V NM_001898.2 NP_001889.2 P01037 CYTN_HUMAN cystatin SN 134 extracellular region cysteine-type endopeptidase inhibitor activity kidney(1)|large_intestine(1)|lung(8)|ovary(1)|stomach(1)|urinary_tract(1) 13 Lung NSC(19;0.0676)|all_lung(19;0.148) ACCTGGATTTCACCAGGGACC 0.557000 26 42 0 0 1 0 0 PRDM9 56979 broad.mit.edu 37 5 23522800 23522800 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:23522800G>A ENST00000296682.3 + 8 870 c.688G>A c.(688-690)Gtg>Atg p.V230M NM_020227.2 NP_064612.2 Q9NQV7 PRDM9_HUMAN PR domain containing 9 230 meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleoplasm histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11) 172 GGACAGTGCAGTGGACAAGGG 0.552000 HNSCC(3;0.000094) 32 26 0 0 1 0 0 NOX1 27035 broad.mit.edu 37 X 100103676 100103676 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chrX:100103676G>A ENST00000372966.3 - 12 1716 c.1511C>T c.(1510-1512)tCc>tTc p.S504F NOX1_ENST00000372960.4_Missense_Mutation_p.S467F|NOX1_ENST00000372964.1_Intron|NOX1_ENST00000217885.5_Missense_Mutation_p.S455F NM_007052.4|NM_013955.2 NP_008983.2|NP_039249.1 Q9Y5S8 NOX1_HUMAN NADPH oxidase 1 504 Interaction with NOXO1. angiogenesis|cell migration|electron transport chain|FADH2 metabolic process|hydrogen peroxide metabolic process|inflammatory response|intracellular pH elevation|positive regulation of integrin biosynthetic process|positive regulation of smooth muscle cell proliferation|positive regulation vascular endothelial growth factor production|respiratory burst|response to pH|signal transduction|superoxide anion generation cell junction|early endosome|invadopodium membrane|NADPH oxidase complex electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|Rac GTPase binding|superoxide-generating NADPH oxidase activity|voltage-gated proton channel activity cervix(1)|lung(3)|ovary(1)|skin(2) 7 TCTCCCAAAGGAGGTTTTCTG 0.428000 10 119 0 0 1 0 0 NBPF1 55672 broad.mit.edu 37 1 16902934 16902934 + Silent SNP G G C TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:16902934G>C ENST00000430580.2 - 19 2834 c.1947C>G c.(1945-1947)acC>acG p.T649T NBPF1_ENST00000287968.8_Silent_p.T14T|NBPF1_ENST00000432949.1_Silent_p.T107T NM_017940.3 NP_060410.2 Q3BBV0 NBPF1_HUMAN neuroblastoma breakpoint family, member 1 649 cytoplasm UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179) CCCTTAACTGGGTCAGCTCTC 0.507000 26 506 0 0 1 0 0 SIGLEC1 6614 broad.mit.edu 37 20 3672145 3672145 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr20:3672145G>A ENST00000344754.4 - 17 4432 c.4433C>T c.(4432-4434)aCc>aTc p.T1478I SIGLEC1_ENST00000202578.4_Missense_Mutation_p.T1478I NM_023068.3 NP_075556.1 Q9BZZ2 SN_HUMAN sialic acid binding Ig-like lectin 1, sialoadhesin 1478 Ig-like C2-type 15. cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response extracellular region|integral to membrane|plasma membrane sugar binding NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1) 70 CCATGCAAAGGTGGAGTTGCC 0.677000 42 83 0 0 1 0 0 CALCRL 10203 broad.mit.edu 37 2 188211077 188211077 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:188211077C>T ENST00000409998.1 - 16 2001 c.1220G>A c.(1219-1221)gGa>gAa p.G407E CALCRL_ENST00000392370.3_Missense_Mutation_p.G407E|AC007319.1_ENST00000412276.1_RNA|CALCRL_ENST00000410068.1_Missense_Mutation_p.G407E|AC007319.1_ENST00000453517.1_RNA Q16602 CALRL_HUMAN calcitonin receptor-like 407 integral to plasma membrane endometrium(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(1) 32 OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(96;0.227) AAAGCTGTTTCCAAATTGGAT 0.378000 27 34 0 0 1 0 0 TBC1D9 23158 broad.mit.edu 37 4 141592068 141592068 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:141592068C>T ENST00000442267.2 - 7 1146 c.1072G>A c.(1072-1074)Gaa>Aaa p.E358K NM_015130.2 NP_055945.2 Q6ZT07 TBCD9_HUMAN TBC1 domain family, member 9 (with GRAM domain) 358 GRAM 2. intracellular calcium ion binding|Rab GTPase activator activity endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1) 31 all_hematologic(180;0.162) Medulloblastoma(177;0.00498) TCTGCCTTTTCCACAATTGTC 0.458000 58 100 0 0 1 0 0 PDZD2 23037 broad.mit.edu 37 5 32052775 32052775 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:32052775C>T ENST00000438447.1 + 9 2112 c.1724C>T c.(1723-1725)cCt>cTt p.P575L PDZD2_ENST00000282493.3_Missense_Mutation_p.P575L O15018 PDZD2_HUMAN PDZ domain containing 2 575 cell adhesion cell-cell junction|endoplasmic reticulum|extracellular region|nucleus NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 148 GTGGAATCTCCTTGGAGGCTC 0.478000 69 125 0 0 1 0 0 EGFR 1956 broad.mit.edu 37 7 55241648 55241648 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:55241648C>T ENST00000275493.2 + 18 2273 c.2096C>T c.(2095-2097)cCc>cTc p.P699L EGFR_ENST00000455089.1_Missense_Mutation_p.P654L|EGFR_ENST00000442591.1_Intron|EGFR_ENST00000454757.2_Missense_Mutation_p.P646L NM_005228.3 NP_005219.2 P00533 EGFR_HUMAN epidermal growth factor receptor 699 Important for dimerization, phosphorylation and activation. activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity p.P699L(1) NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6) 14110 all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318) GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607) Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072) GGAGAAGCTCCCAACCAAGCT 0.537000 8 """A, O, Mis""" """glioma, NSCLC""" NSCLC Lung Cancer, Familial Clustering of TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08) 65 118 0 0 1 0 0 PRKG2 5593 broad.mit.edu 37 4 82031632 82031632 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:82031632C>T ENST00000395578.1 - 15 2026 c.1910G>A c.(1909-1911)gGa>gAa p.G637E PRKG2_ENST00000418486.2_Missense_Mutation_p.G608E|PRKG2_ENST00000545647.1_Missense_Mutation_p.G217E|PRKG2_ENST00000509169.1_5'UTR|PRKG2_ENST00000264399.1_Missense_Mutation_p.G637E Q13237 KGP2_HUMAN protein kinase, cGMP-dependent, type II 637 Protein kinase. platelet activation|signal transduction cytosol ATP binding|cGMP binding|cGMP-dependent protein kinase activity NS(1)|breast(4)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2) 37 CACTAGAATTCCCAGTGACCA 0.423000 31 62 0 0 1 0 0 PCDHB7 56129 broad.mit.edu 37 5 140554723 140554723 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:140554723C>T ENST00000231137.3 + 1 2481 c.2307C>T c.(2305-2307)atC>atT p.I769I NM_018940.2 NP_061763.1 Q9Y5E2 PCDB7_HUMAN 769 calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1) 119 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) AACCAATTATCCCCAACCTGC 0.488000 35 150 0 0 1 0 0 ZNF679 168417 broad.mit.edu 37 7 63726349 63726349 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:63726349G>A ENST00000421025.1 + 5 607 c.338G>A c.(337-339)aGa>aAa p.R113K ZNF679_ENST00000255746.4_Missense_Mutation_p.R113K NM_001159524.1|NM_153363.2 NP_001152996.1|NP_699194.2 Q8IYX0 ZN679_HUMAN zinc finger protein 679 113 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|kidney(3)|lung(11)|skin(1)|stomach(1) 18 GTAATACCAAGAAGATATGGA 0.363000 13 54 0 0 1 0 0 OR13C2 392376 broad.mit.edu 37 9 107367631 107367631 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:107367631G>A ENST00000542196.1 - 1 320 c.278C>T c.(277-279)tCc>tTc p.S93F NM_001004481.1 NP_001004481.1 Q8NGS9 O13C2_HUMAN olfactory receptor, family 13, subfamily C, member 2 93 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 22 GCCAGAAAGGGAAATGGTCTT 0.517000 42 83 0 0 1 0 0 ELMO1 9844 broad.mit.edu 37 7 37298927 37298927 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:37298927C>T ENST00000310758.4 - 6 919 c.272G>A c.(271-273)cGa>cAa p.R91Q ELMO1_ENST00000448602.1_Missense_Mutation_p.R91Q|ELMO1_ENST00000442504.1_Missense_Mutation_p.R91Q NM_001206480.1|NM_014800.10 NP_001193409.1|NP_055615.8 Q92556 ELMO1_HUMAN engulfment and cell motility 1 91 actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction cytoskeleton|cytosol|plasma membrane SH3 domain binding breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 58 GGACTGGATTCGTTCATGGAG 0.502000 37 58 0 0 1 0 0 HNRNPUL1 11100 broad.mit.edu 37 19 41809933 41809933 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:41809933C>T ENST00000392006.3 + 13 2202 c.2029C>T c.(2029-2031)Cgg>Tgg p.R677W HNRNPUL1_ENST00000263367.3_Missense_Mutation_p.R588W|HNRNPUL1_ENST00000595018.1_Missense_Mutation_p.R577W|HNRNPUL1_ENST00000593587.1_Missense_Mutation_p.R577W|HNRNPUL1_ENST00000602130.1_Missense_Mutation_p.R677W|HNRNPUL1_ENST00000378215.4_Missense_Mutation_p.R563W|HNRNPUL1_ENST00000352456.3_Missense_Mutation_p.R577W NM_007040.3 NP_008971.2 Q9BUJ2 HNRL1_HUMAN heterogeneous nuclear ribonucleoprotein U-like 1 677 Asn-rich.|Necessary for interaction with TP53. nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent heterogeneous nuclear ribonucleoprotein complex|nucleoplasm enzyme binding|RNA binding breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(1)|urinary_tract(1) 29 TAACAACAACCGGGATAACAA 0.577000 7 145 0 0 1 0 0 RNF167 26001 broad.mit.edu 37 17 4845926 4845926 + Missense_Mutation SNP T T C TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:4845926T>C ENST00000262482.6 + 5 1002 c.346T>C c.(346-348)Tcc>Ccc p.S116P RNF167_ENST00000576229.1_Missense_Mutation_p.S81P|RNF167_ENST00000575111.1_Missense_Mutation_p.S116P|RNF167_ENST00000570492.1_3'UTR|RNF167_ENST00000572430.1_Missense_Mutation_p.S116P|RNF167_ENST00000571816.1_Missense_Mutation_p.S116P NM_015528.1 NP_056343.1 Q9H6Y7 RN167_HUMAN ring finger protein 167 116 PA. negative regulation of cell cycle|protein polyubiquitination cytoplasm|endomembrane system|integral to membrane protein binding|ubiquitin-protein ligase activity|zinc ion binding endometrium(1)|large_intestine(2)|lung(1) 4 CAATGTGAATTCCAATGAACT 0.512000 53 122 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140454029 140454029 + Silent SNP A A G TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:140454029A>G ENST00000288602.6 - 14 1759 c.1699T>C c.(1699-1701)Tta>Cta p.L567L NM_004333.4 NP_004324.2 P15056 BRAF_HUMAN v-raf murine sarcoma viral oncogene homolog B 567 Protein kinase. activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission cytosol|nucleus|plasma membrane ATP binding|metal ion binding SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2) NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3) 27380 Melanoma(164;0.00956) Sorafenib(DB00398) TTGGCGTGTAAGTAACTGAAA 0.388000 61 """Mis, T, O""" """AKAP9, KIAA1549""" """melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma""" Cardio-facio-cutaneous syndrome Cardiofaciocutaneous syndrome 15 127 0 0 1 0 0 PGM2 55276 broad.mit.edu 37 4 37841721 37841721 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:37841721C>T ENST00000381967.4 + 6 659 c.559C>T c.(559-561)Cct>Tct p.P187S PGM2_ENST00000544359.1_Missense_Mutation_p.P48S|PGM2_ENST00000537241.1_Missense_Mutation_p.P27S NM_018290.3 NP_060760.2 Q96G03 PGM2_HUMAN phosphoglucomutase 2 187 glucose 1-phosphate metabolic process|glycogen biosynthetic process|glycogen catabolic process cytosol magnesium ion binding|phosphoglucomutase activity|phosphopentomutase activity breast(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|urinary_tract(1) 19 GATCATTTCTCCTCACGATAA 0.418000 42 99 0 0 1 0 0 FAT4 79633 broad.mit.edu 37 4 126367465 126367465 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:126367465G>A ENST00000394329.3 + 8 7224 c.7211G>A c.(7210-7212)gGa>gAa p.G2404E FAT4_ENST00000335110.5_Missense_Mutation_p.G702E NM_024582.4 NP_078858.4 Q6V0I7 FAT4_HUMAN FAT atypical cadherin 4 2404 Cadherin 23. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6) 355 ATCATCGGTGGAAACTCTCAG 0.353000 41 76 0 0 1 0 0 PCNXL2 80003 broad.mit.edu 37 1 233150453 233150453 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:233150453C>T ENST00000258229.8 - 28 5144 c.4910G>A c.(4909-4911)gGg>gAg p.G1637E PCNXL2_ENST00000344698.2_Missense_Mutation_p.G289E NM_014801.3 NP_055616.3 A6NKB5 PCX2_HUMAN pecanex-like 2 (Drosophila) 1637 integral to membrane NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 86 all_cancers(173;0.0347)|Prostate(94;0.137) AGCTCTCCTCCCCAGGGTGCA 0.537000 7 121 0 0 1 0 0 COL21A1 81578 broad.mit.edu 37 6 55922577 55922577 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:55922577C>T ENST00000244728.5 - 30 3149 c.2752G>A c.(2752-2754)Gat>Aat p.D918N COL21A1_ENST00000370819.1_Missense_Mutation_p.D915N|COL21A1_ENST00000370808.2_Missense_Mutation_p.D284N|COL21A1_ENST00000467045.1_5'UTR|COL21A1_ENST00000535941.1_Missense_Mutation_p.D918N NM_030820.3 NP_110447.2 Q96P44 COLA1_HUMAN collagen, type XXI, alpha 1 918 cell adhesion collagen|cytoplasm structural molecule activity breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2) 41 Lung NSC(77;0.0483) LUSC - Lung squamous cell carcinoma(124;0.181) TGGTCTCCATCTTTGCCAGGG 0.527000 6 17 0 0 1 0 0 PLCE1 51196 broad.mit.edu 37 10 96068428 96068428 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:96068428C>T ENST00000260766.3 + 27 6609 c.5975C>T c.(5974-5976)tCc>tTc p.S1992F PLCE1_ENST00000371385.3_Missense_Mutation_p.S1684F|PLCE1_ENST00000371380.2_Missense_Mutation_p.S1992F|PLCE1_ENST00000371375.1_Missense_Mutation_p.S1684F NM_016341.3 NP_057425.3 Q9P212 PLCE1_HUMAN phospholipase C, epsilon 1 1992 activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction cytosol|Golgi membrane|membrane fraction|plasma membrane calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1) 8 Colorectal(252;0.0458) GAAGAAAATTCCTCTGGCAAT 0.413000 43 109 0 0 1 0 0 ABAT 18 broad.mit.edu 37 16 8873388 8873388 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr16:8873388C>T ENST00000396600.2 + 15 2260 c.1322C>T c.(1321-1323)tCc>tTc p.S441F ABAT_ENST00000268251.8_Missense_Mutation_p.S441F|ABAT_ENST00000569156.1_Missense_Mutation_p.S441F|ABAT_ENST00000567812.1_Missense_Mutation_p.S456F|ABAT_ENST00000425191.2_Missense_Mutation_p.S441F NM_000663.4 NP_000654.2 P80404 GABT_HUMAN 4-aminobutyrate aminotransferase 441 behavioral response to cocaine|gamma-aminobutyric acid catabolic process|neurotransmitter catabolic process|neurotransmitter secretion 4-aminobutyrate transaminase complex|mitochondrial matrix (S)-3-amino-2-methylpropionate transaminase activity|4-aminobutyrate transaminase activity|protein homodimerization activity|pyridoxal phosphate binding|succinate-semialdehyde dehydrogenase binding breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|skin(3)|upper_aerodigestive_tract(2) 26 Divalproex sodium(DB00510)|Isoniazid(DB00951)|L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119)|Tiagabine(DB00906)|Valproic Acid(DB00313)|Vigabatrin(DB01080) ACCTTTTGCTCCTTCGATACT 0.522000 28 38 0 0 1 0 0 FMN2 56776 broad.mit.edu 37 1 240256692 240256692 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:240256692C>T ENST00000319653.9 + 1 1513 c.1283C>T c.(1282-1284)tCg>tTg p.S428L NM_020066.4 NP_064450.3 Q9NZ56 FMN2_HUMAN formin 2 428 actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions actin binding NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2) 178 Ovarian(103;0.127) all_cancers(173;0.013) OV - Ovarian serous cystadenocarcinoma(106;0.0106) CAGCTCAGCTCGCCCAATCAC 0.667000 54 130 0 0 1 0 0 MAPK4 5596 broad.mit.edu 37 18 48255801 48255801 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr18:48255801G>A ENST00000400384.2 + 6 2377 c.1341G>A c.(1339-1341)aaG>aaA p.K447K MAPK4_ENST00000592595.1_3'UTR|MAPK4_ENST00000540640.1_Silent_p.K236K NM_002747.3 NP_002738.2 P31152 MK04_HUMAN mitogen-activated protein kinase 4 447 cell cycle ATP binding|MAP kinase activity lung(4)|skin(3)|upper_aerodigestive_tract(1) 8 Colorectal(6;0.0297) Colorectal(21;0.156) GCGACAACAAGCCGCACCACT 0.706000 5 11 0 0 1 0 0 ABCC3 8714 broad.mit.edu 37 17 48757227 48757227 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:48757227G>A ENST00000285238.8 + 26 3854 c.3774G>A c.(3772-3774)gaG>gaA p.E1258E NM_003786.3 NP_003777.2 O15438 MRP3_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 3 1258 bile acid metabolic process integral to plasma membrane|membrane fraction ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 33 BRCA - Breast invasive adenocarcinoma(22;3.05e-09) Glibenclamide(DB01016) TGGCTGTGGAGAGGGTCAAGG 0.522000 22 59 0 0 1 0 0 BTBD16 118663 broad.mit.edu 37 10 124096184 124096184 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:124096184C>T ENST00000368994.2 + 15 1693 c.1442C>T c.(1441-1443)tCc>tTc p.S481F BTBD16_ENST00000260723.4_Missense_Mutation_p.S480F Q32M84 BTBDG_HUMAN BTB (POZ) domain containing 16 480 breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(3)|skin(2)|stomach(1)|urinary_tract(1) 15 all_neural(114;0.107)|Lung NSC(174;0.175)|all_lung(145;0.222)|Breast(234;0.238) ACCACGTCATCCTGCAAAAGC 0.483000 33 58 0 0 1 0 0 KIF2B 84643 broad.mit.edu 37 17 51901310 51901310 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:51901310G>A ENST00000268919.4 + 1 1072 c.916G>A c.(916-918)Gga>Aga p.G306R NM_032559.4 NP_115948.4 Q8N4N8 KIF2B_HUMAN kinesin family member 2B 306 Kinesin-motor. G -> R (in Ref. 1; AAK20830). blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle ATP binding|microtubule motor activity NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 104 TGGGCAGACGGGAAGTGGGAA 0.552000 36 77 0 0 1 0 0 ZNF608 57507 broad.mit.edu 37 5 123984589 123984589 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:123984589G>A ENST00000306315.5 - 4 1923 c.1488C>T c.(1486-1488)tcC>tcT p.S496S ZNF608_ENST00000504926.1_Silent_p.S69S NM_020747.2 NP_065798.2 Q9ULD9 ZN608_HUMAN zinc finger protein 608 496 intracellular zinc ion binding breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1) 46 all_cancers(142;0.186)|Prostate(80;0.081) KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221) OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783) TTTTGTTGGTGGAGGAAGGGC 0.557000 32 103 0 0 1 0 0 FBXO42 54455 broad.mit.edu 37 1 16578204 16578204 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:16578204G>A ENST00000375592.3 - 10 1331 c.1115C>T c.(1114-1116)cCa>cTa p.P372L NM_018994.1 NP_061867.1 Q6P3S6 FBX42_HUMAN F-box protein 42 372 autonomic_ganglia(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 26 Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00475)|all_lung(284;0.00671)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646) UCEC - Uterine corpus endometrioid carcinoma (279;0.0193)|Colorectal(212;3.16e-07)|COAD - Colon adenocarcinoma(227;1.46e-05)|BRCA - Breast invasive adenocarcinoma(304;4.37e-05)|Kidney(64;0.000246)|KIRC - Kidney renal clear cell carcinoma(64;0.00336)|STAD - Stomach adenocarcinoma(313;0.0139)|READ - Rectum adenocarcinoma(331;0.0693) GATAGGTGATGGGCGAGAGTT 0.557000 22 69 0 0 1 0 0 DCTN1 1639 broad.mit.edu 37 2 74596228 74596228 + Silent SNP G G C TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:74596228G>C ENST00000361874.3 - 15 2015 c.1698C>G c.(1696-1698)gcC>gcG p.A566A DCTN1_ENST00000409567.3_Silent_p.A546A|DCTN1_ENST00000394003.3_Silent_p.A559A|DCTN1_ENST00000407639.2_Silent_p.A432A|DCTN1_ENST00000409868.1_Silent_p.A549A|DCTN1_ENST00000409438.1_Silent_p.A432A|DCTN1_ENST00000409240.1_Silent_p.A529A NM_004082.4 NP_004073.2 Q14203 DCTN1_HUMAN dynactin 1 566 cell death|G2/M transition of mitotic cell cycle|mitosis|nervous system development centrosome|cytosol|kinetochore|microtubule|spindle pole motor activity|protein binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(1)|skin(3) 45 TCCTGACCTTGGCATGGGCCT 0.542000 34 82 0 0 1 0 0 LMBRD2 92255 broad.mit.edu 37 5 36136471 36136471 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:36136471C>T ENST00000296603.4 - 6 1149 c.687G>A c.(685-687)aaG>aaA p.K229K NM_001007527.1 NP_001007528.1 Q68DH5 LMBD2_HUMAN LMBR1 domain containing 2 229 integral to membrane breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 all_lung(31;0.000146) Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) GTTTGGCTGCCTTAAAATACG 0.403000 7 388 0 0 1 0 0 LINC00842 643650 broad.mit.edu 37 10 47133511 47133511 + RNA SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:47133511C>T ENST00000422732.2 - 0 435 NR_033957.1 TTGCCAAAATCATTGTAGCTT 0.478000 40 236 0 0 1 0 0 MYO9A 4649 broad.mit.edu 37 15 72191103 72191103 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr15:72191103C>T ENST00000356056.5 - 25 4213 c.3741G>A c.(3739-3741)caG>caA p.Q1247Q MYO9A_ENST00000566885.1_Silent_p.Q867Q|MYO9A_ENST00000564571.1_Silent_p.Q1247Q|MYO9A_ENST00000444904.1_Silent_p.Q1228Q|MYO9A_ENST00000563542.1_5'UTR|MYO9A_ENST00000424560.1_Silent_p.Q1247Q NM_006901.3 NP_008832.2 B2RTY4 MYO9A_HUMAN myosin IXA 1247 Tail. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception cytosol|integral to membrane|unconventional myosin complex actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 88 GCACATCTTCCTGCAAGTCCA 0.483000 16 189 0 0 1 0 0 HAO2 51179 broad.mit.edu 37 1 119929290 119929290 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:119929290C>T ENST00000361035.4 + 6 929 c.646C>T c.(646-648)Ctc>Ttc p.L216F HAO2_ENST00000325945.3_Missense_Mutation_p.L203F NM_001005783.1 NP_001005783.1 Q9NYQ3 HAOX2_HUMAN hydroxyacid oxidase 2 (long chain) 203 FMN hydroxy acid dehydrogenase. fatty acid alpha-oxidation peroxisome (S)-2-hydroxy-acid oxidase activity breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(2) 30 all_neural(166;0.187) all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284) Lung(183;0.0155)|LUSC - Lung squamous cell carcinoma(189;0.0856) CAGCACTTCTCTCTGCTGGAA 0.433000 35 91 0 0 1 0 0 RIMBP2 23504 broad.mit.edu 37 12 130926869 130926869 + Nonsense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:130926869C>T ENST00000261655.4 - 8 1140 c.977G>A c.(976-978)tGg>tAg p.W326* RIMBP2_ENST00000535703.1_Nonsense_Mutation_p.W234*|RIMBP2_ENST00000536002.1_Nonsense_Mutation_p.W234* NM_015347.4 NP_056162.4 O15034 RIMB2_HUMAN RIMS binding protein 2 326 Fibronectin type-III 1. cell junction|synapse NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1) 96 all_neural(191;0.101)|Medulloblastoma(191;0.163) all_epithelial(31;0.213) OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05) CACCGTTCCCCATCCTGGTGG 0.552000 17 180 0 0 1 0 0 PPP3R2 5535 broad.mit.edu 37 9 104356757 104356757 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:104356757G>A ENST00000374806.1 - 1 526 c.456C>T c.(454-456)tcC>tcT p.S152S GRIN3A_ENST00000361820.3_Intron NM_147180.2 NP_671709.1 Q96LZ3 CANB2_HUMAN protein phosphatase 3, regulatory subunit B, beta 149 EF-hand 4. calcium ion binding p.S152S(1) breast(1)|endometrium(2)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 22 Acute lymphoblastic leukemia(62;0.0527) Cyclosporine(DB00091) ATTCCTCAAAGGATATCTTCC 0.502000 45 81 0 0 1 0 0 SLC41A2 84102 broad.mit.edu 37 12 105289105 105289105 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:105289105C>T ENST00000258538.3 - 3 809 c.682G>A c.(682-684)Gat>Aat p.D228N NM_032148.3 NP_115524.3 Q96JW4 S41A2_HUMAN solute carrier family 41 (magnesium transporter), member 2 228 integral to membrane|plasma membrane magnesium ion transmembrane transporter activity breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1) 22 ATGGGTGAATCCATCTTCCCA 0.343000 17 48 0 0 1 0 0 DNMT3B 1789 broad.mit.edu 37 20 31376689 31376689 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr20:31376689C>T ENST00000328111.2 + 7 1005 c.684C>T c.(682-684)ctC>ctT p.L228L DNMT3B_ENST00000375623.4_Silent_p.L186L|DNMT3B_ENST00000456297.2_Silent_p.L152L|DNMT3B_ENST00000201963.3_Silent_p.L240L|DNMT3B_ENST00000443239.3_Silent_p.L186L|DNMT3B_ENST00000348286.2_Silent_p.L228L|DNMT3B_ENST00000353855.2_Silent_p.L228L|DNMT3B_ENST00000344505.4_Silent_p.L228L NM_006892.3 NP_008823.1 Q9UBC3 DNM3B_HUMAN DNA (cytosine-5-)-methyltransferase 3 beta 228 Interaction with DNMT1 and DNMT3A.|PWWP. negative regulation of histone H3-K9 methylation|positive regulation of gene expression|positive regulation of histone H3-K4 methylation metal ion binding|protein binding|transcription corepressor activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 TAGGGGACCTCGTGTGGGGAA 0.582000 21 66 0 0 1 0 0 CYP4F3 4051 broad.mit.edu 37 19 15758110 15758110 + Silent SNP C C T rs142788549 byFrequency TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:15758110C>T ENST00000221307.7 + 5 549 c.501C>T c.(499-501)ttC>ttT p.F167F CYP4F3_ENST00000585846.1_Silent_p.F167F|CYP4F3_ENST00000591058.1_Silent_p.F167F|CYP4F3_ENST00000586182.1_Silent_p.F167F NM_000896.2 NP_000887.2 Q08477 CP4F3_HUMAN cytochrome P450, family 4, subfamily F, polypeptide 3 167 leukotriene metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1) 34 TGAAGATTTTCAATGAGAGTG 0.502000 57 143 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179399672 179399672 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:179399672C>T ENST00000589042.1 - 358 101894 c.101670G>A c.(101668-101670)atG>atA p.M33890I TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.M24950I|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.M32249I|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.M31322I|TTN-AS1_ENST00000585487.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.M24825I|TTN_ENST00000342175.6_Missense_Mutation_p.M25017I|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000419746.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 32249 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) ACTCAAAGATCATAACTAATT 0.333000 29 32 0 0 1 0 0 HLCS 3141 broad.mit.edu 37 21 38132083 38132083 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr21:38132083G>A ENST00000399120.1 - 10 2970 c.1740C>T c.(1738-1740)atC>atT p.I580I HLCS_ENST00000336648.3_Silent_p.I580I NM_001242784.1 NP_001229713.1 P50747 BPL1_HUMAN holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase) 580 cell proliferation|histone biotinylation|response to biotin chromatin|cytosol|mitochondrion|nuclear lamina|nuclear matrix ATP binding|biotin binding|biotin-[acetyl-CoA-carboxylase] ligase activity|biotin-[methylcrotonoyl-CoA-carboxylase] ligase activity|biotin-[methylmalonyl-CoA-carboxytransferase] ligase activity|biotin-[propionyl-CoA-carboxylase (ATP-hydrolyzing)] ligase activity|enzyme binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1) 24 Myeloproliferative disorder(46;0.0422) Biotin(DB00121) GAACTCCGCCGATCTTCATGA 0.373000 15 147 0 0 1 0 0 CYP4F8 11283 broad.mit.edu 37 19 15740094 15740094 + RNA SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:15740094G>A ENST00000441682.2 + 0 1550 P98187 CP4F8_HUMAN cytochrome P450, family 4, subfamily F, polypeptide 8 prostaglandin metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome alkane 1-monooxygenase activity|aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(1) 26 CGACCACAGGGAGCCACGCAG 0.652000 5 31 0 0 1 0 0 DALRD3 55152 broad.mit.edu 37 3 49054933 49054933 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:49054933G>A ENST00000440857.1 - 5 933 c.231C>T c.(229-231)ctC>ctT p.L77L DALRD3_ENST00000341949.4_Silent_p.L244L|DALRD3_ENST00000441576.2_Silent_p.L244L|DALRD3_ENST00000395462.4_Silent_p.L77L|DALRD3_ENST00000313778.5_Silent_p.L77L Q5D0E6 DALD3_HUMAN DALR anticodon binding domain containing 3 244 arginyl-tRNA aminoacylation cytoplasm arginine-tRNA ligase activity|ATP binding breast(2)|endometrium(2)|large_intestine(2)|lung(5)|skin(1) 12 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244) GCACAGAGAGGAGATCCTCAG 0.572000 25 47 0 0 1 0 0 IL1RAPL1 11141 broad.mit.edu 37 X 29973843 29973843 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chrX:29973843C>T ENST00000378993.1 + 11 2670 c.1997C>T c.(1996-1998)tCg>tTg p.S666L IL1RAPL1_ENST00000302196.4_Missense_Mutation_p.S666L NM_014271.3 NP_055086.1 Q9NZN1 IRPL1_HUMAN interleukin 1 receptor accessory protein-like 1 666 innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development cytoplasm|integral to membrane|plasma membrane protein binding|transmembrane receptor activity biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 62 CAGACAAAATCGAGCAGGGAG 0.532000 10 17 0 0 1 0 0 KIF13B 23303 broad.mit.edu 37 8 28950363 28950363 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:28950363G>A ENST00000524189.1 - 37 4395 c.4357C>T c.(4357-4359)Cct>Tct p.P1453S KIF13B_ENST00000404075.3_5'UTR NM_015254.3 NP_056069.2 Q9NQT8 KI13B_HUMAN kinesin family member 13B 1453 microtubule-based movement|protein targeting|signal transduction|T cell activation cytoplasm|microtubule ATP binding|microtubule motor activity|protein kinase binding endometrium(6)|kidney(1)|lung(20)|urinary_tract(1) 28 Ovarian(32;0.000536) KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181) GATTTGACAGGATTCAAGTAG 0.478000 10 23 0 0 1 0 0 LRMP 4033 broad.mit.edu 37 12 25260969 25260969 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:25260969G>A ENST00000354454.3 + 21 2304 c.1475G>A c.(1474-1476)cGa>cAa p.R492Q LRMP_ENST00000547044.1_Missense_Mutation_p.R492Q|LRMP_ENST00000548766.1_Missense_Mutation_p.R492Q NM_006152.3 NP_006143.2 Q12912 LRMP_HUMAN lymphoid-restricted membrane protein 548 vesicle fusion|vesicle targeting endoplasmic reticulum membrane|integral to plasma membrane breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 19 Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Colorectal(261;0.11) ACCAGACTCCGACACAATGGG 0.438000 53 111 0 0 1 0 0 NCR2 9436 broad.mit.edu 37 6 41304125 41304125 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:41304125C>T ENST00000373083.4 + 2 575 c.353C>T c.(352-354)tCt>tTt p.S118F NCR2_ENST00000373086.3_Missense_Mutation_p.S118F|NCR2_ENST00000373089.5_Missense_Mutation_p.S118F NM_001199510.1 NP_001186439.1 O95944 NCTR2_HUMAN natural cytotoxicity triggering receptor 2 118 Ig-like. cellular defense response integral to plasma membrane transmembrane receptor activity NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1) 14 Ovarian(28;0.0327)|Colorectal(47;0.196) TCTGACAACTCTGTCTCTAAG 0.532000 47 149 0 0 1 0 0 GPHN 10243 broad.mit.edu 37 14 67635682 67635682 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr14:67635682C>T ENST00000478722.1 + 21 3129 c.2008C>T c.(2008-2010)Ctc>Ttc p.L670F GPHN_ENST00000305960.9_Missense_Mutation_p.L606F|GPHN_ENST00000544752.2_3'UTR|GPHN_ENST00000315266.5_Missense_Mutation_p.L637F|GPHN_ENST00000543237.1_Missense_Mutation_p.L683F NM_020806.4 NP_065857.1 Q9NQX3 GEPH_HUMAN gephyrin 637 MPT adenylyltransferase. Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process cell junction|cytoplasm|cytoskeleton|postsynaptic membrane ATP binding|metal ion binding|nucleotidyltransferase activity large_intestine(8)|liver(1)|ovary(2)|stomach(1) 12 all_cancers(7;0.0476)|all_hematologic(31;0.0116) Epithelial(1;1.73e-08)|all cancers(60;3.15e-07)|OV - Ovarian serous cystadenocarcinoma(108;0.000275)|BRCA - Breast invasive adenocarcinoma(234;0.00323)|Colorectal(3;0.0938)|KIRC - Kidney renal clear cell carcinoma(182;0.184) CACCTGCAATCTCTTTGTTGT 0.423000 T MLL AL 5 91 0 0 1 0 0 MYLK 4638 broad.mit.edu 37 3 123471232 123471232 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:123471232C>T ENST00000360772.3 - 6 697 c.319G>A c.(319-321)Gaa>Aaa p.E107K MYLK_ENST00000360304.3_Missense_Mutation_p.E107K|MYLK_ENST00000359169.1_Missense_Mutation_p.E107K|MYLK_ENST00000475616.1_Missense_Mutation_p.E107K|MYLK_ENST00000346322.5_Missense_Mutation_p.E107K Q15746 MYLK_HUMAN myosin light chain kinase 107 Ig-like C2-type 1. aorta smooth muscle tissue morphogenesis|muscle contraction cytosol actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 113 Lung NSC(201;0.0496) GBM - Glioblastoma multiforme(114;0.0736) TTGGTGGCTTCACAGGTATAC 0.597000 51 115 0 0 1 0 0 CARD11 84433 broad.mit.edu 37 7 2979502 2979502 + Nonsense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:2979502G>A ENST00000396946.4 - 6 1148 c.745C>T c.(745-747)Cag>Tag p.Q249* NM_032415.4 NP_115791.3 Q9BXL7 CAR11_HUMAN caspase recruitment domain family, member 11 249 positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway cytosol|membrane raft|plasma membrane CARD domain binding|guanylate kinase activity NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2) 150 Ovarian(82;0.0115) OV - Ovarian serous cystadenocarcinoma(56;8.44e-14) TTTAGAGACTGATTTCTCTCC 0.483000 Mis DLBCL 74 131 0 0 1 0 0 PDLIM7 9260 broad.mit.edu 37 5 176911120 176911120 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:176911120G>A ENST00000355841.2 - 11 1188 c.1122C>T c.(1120-1122)atC>atT p.I374I PDLIM7_ENST00000505746.1_5'UTR|PDLIM7_ENST00000356618.4_3'UTR|PDLIM7_ENST00000359895.2_Silent_p.I340I NM_005451.3 NP_005442.2 Q9NR12 PDLI7_HUMAN PDZ and LIM domain 7 (enigma) 374 LIM zinc-binding 2. cell differentiation|multicellular organismal development|ossification|receptor-mediated endocytosis cytoplasm|focal adhesion protein binding|zinc ion binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1) 10 all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) CCCTGTTCCGGATGGGCGTCT 0.622000 56 109 0 0 1 0 0 TUBE1 51175 broad.mit.edu 37 6 112400878 112400878 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:112400878C>T ENST00000368662.5 - 6 484 c.406G>A c.(406-408)Gat>Aat p.D136N TUBE1_ENST00000604814.1_5'UTR NM_016262.4 NP_057346.1 Q9UJT0 TBE_HUMAN tubulin, epsilon 1 136 centrosome cycle|microtubule-based movement|protein polymerization microtubule|pericentriolar material GTP binding|GTPase activity|structural constituent of cytoskeleton cervix(1)|endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|upper_aerodigestive_tract(1) 12 all_cancers(87;0.0101)|all_hematologic(75;0.000258)|Colorectal(196;0.0466)|all_epithelial(87;0.1) all cancers(137;0.0217)|OV - Ovarian serous cystadenocarcinoma(136;0.0613)|Epithelial(106;0.0636)|GBM - Glioblastoma multiforme(226;0.0972)|BRCA - Breast invasive adenocarcinoma(108;0.246) TGCAAGCAATCACAGTGCTCT 0.383000 11 117 0 0 1 0 0 P2RX1 5023 broad.mit.edu 37 17 3808188 3808188 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:3808188G>A ENST00000225538.3 - 3 595 c.321C>T c.(319-321)atC>atT p.I107I NM_002558.2 NP_002549.1 P51575 P2RX1_HUMAN purinergic receptor P2X, ligand-gated ion channel, 1 107 platelet activation integral to plasma membrane calcium channel activity|extracellular ATP-gated cation channel activity|purinergic nucleotide receptor activity cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2) 13 LUAD - Lung adenocarcinoma(2;1.9e-05)|Lung(3;0.0173) TCGGGGTCACGATGAAATTGG 0.617000 5 10 0 0 1 0 0 CNTN6 27255 broad.mit.edu 37 3 1269577 1269577 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:1269577C>T ENST00000446702.2 + 4 885 c.258C>T c.(256-258)atC>atT p.I86I CNTN6_ENST00000350110.2_Silent_p.I86I|CNTN6_ENST00000539053.1_Silent_p.I14I Q9UQ52 CNTN6_HUMAN contactin 6 86 Ig-like C2-type 1. axon guidance|cell adhesion|central nervous system development|Notch signaling pathway anchored to membrane|plasma membrane breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 90 all_cancers(2;0.000164)|all_epithelial(2;0.107) Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139) GTCTTGCAATCAATAGCCCCC 0.433000 43 98 0 0 1 0 0 TRHR 7201 broad.mit.edu 37 8 110099744 110099744 + Translation_Start_Site SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:110099744G>A ENST00000518632.1 + 2 354 c.3G>A c.(1-3)atG>atA p.M1I TRHR_ENST00000311762.2_Start_Codon_SNP_p.M1I P34981 TRFR_HUMAN thyrotropin-releasing hormone receptor 1 integral to plasma membrane thyrotropin-releasing hormone receptor activity endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(12)|prostate(4)|skin(4)|urinary_tract(1) 37 OV - Ovarian serous cystadenocarcinoma(57;2.3e-11) TTCTAAAGATGGAAAACGAGA 0.463000 23 45 0 0 1 0 0 GMPPA 29926 broad.mit.edu 37 2 220369990 220369990 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:220369990C>T ENST00000358215.3 + 8 1030 c.661C>T c.(661-663)Cgc>Tgc p.R221C GMPPA_ENST00000373908.1_Missense_Mutation_p.R221C|GMPPA_ENST00000373917.3_Missense_Mutation_p.R221C|GMPPA_ENST00000313597.5_Missense_Mutation_p.R221C|GMPPA_ENST00000341142.3_Missense_Mutation_p.R221C|AC053503.11_ENST00000429882.1_RNA NM_205847.2 NP_995319.1 Q96IJ6 GMPPA_HUMAN GDP-mannose pyrophosphorylase A 221 dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine GTP binding|mannose-1-phosphate guanylyltransferase activity breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(6)|prostate(1)|skin(1) 20 Renal(207;0.0183) Epithelial(149;3.82e-10)|all cancers(144;6.25e-08)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00807)|READ - Rectum adenocarcinoma(5;0.148) AGGTACCATCCGCCTAGAGCA 0.582000 31 47 0 0 1 0 0 NRXN3 9369 broad.mit.edu 37 14 79181112 79181112 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr14:79181112G>A ENST00000554719.1 + 5 1046 c.555G>A c.(553-555)gtG>gtA p.V185V NRXN3_ENST00000335750.5_Silent_p.V185V NM_004796.4 NP_004787.2 Q9HDB5 NRX3B_HUMAN neurexin 3 189 Laminin G-like. angiogenesis|cell adhesion integral to membrane NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1) 104 Renal(4;0.00876) BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223) CTATATCAGTGAACAGCAGGC 0.572000 138 240 0 0 1 0 0 SLC1A2 6506 broad.mit.edu 37 11 35440501 35440501 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:35440501C>T ENST00000278379.3 - 1 295 c.13G>A c.(13-15)Gaa>Aaa p.E5K SLC1A2_ENST00000606205.1_Missense_Mutation_p.E5K|SLC1A2_ENST00000395750.1_Intron|SLC1A2_ENST00000395753.1_Intron NM_004171.3 NP_004162.2 P43004 EAA2_HUMAN solute carrier family 1 (glial high affinity glutamate transporter), member 2 5 D-aspartate import|L-glutamate import|synaptic transmission integral to membrane|membrane fraction high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|urinary_tract(1) 24 all_lung(20;0.211)|all_epithelial(35;0.234) all_hematologic(20;0.109) STAD - Stomach adenocarcinoma(6;0.00731) L-Glutamic Acid(DB00142) CCTCACCCTTCCGTAGATGCC 0.677000 4 12 0 0 1 0 0 KIAA1217 56243 broad.mit.edu 37 10 24822115 24822115 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:24822115G>A ENST00000376451.2 + 11 2672 c.2412G>A c.(2410-2412)aaG>aaA p.K804K KIAA1217_ENST00000307544.6_Silent_p.K804K|KIAA1217_ENST00000396446.1_Silent_p.K804K|KIAA1217_ENST00000376452.3_Silent_p.K1085K|KIAA1217_ENST00000396445.1_Silent_p.K804K|KIAA1217_ENST00000376462.1_Silent_p.K1041K|KIAA1217_ENST00000458595.1_Silent_p.K1086K|KIAA1217_ENST00000376454.3_Silent_p.K1121K Q5T5P2 SKT_HUMAN KIAA1217 1121 embryonic skeletal system development cytoplasm breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1) 70 CCTCCTCAAAGGATGAGGAGG 0.552000 25 71 0 0 1 0 0 ZNF607 84775 broad.mit.edu 37 19 38189615 38189615 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:38189615C>T ENST00000355202.4 - 5 2012 c.1417G>A c.(1417-1419)Gga>Aga p.G473R CTD-2528L19.4_ENST00000586606.2_Intron|ZNF607_ENST00000395835.3_Missense_Mutation_p.G472R NM_032689.4 NP_116078.4 Q96SK3 ZN607_HUMAN zinc finger protein 607 473 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|lung(8)|urinary_tract(1) 27 UCEC - Uterine corpus endometrioid carcinoma (49;0.0775) GGTTTCTCTCCTGTATGAATT 0.378000 38 102 0 0 1 0 0 STAB2 55576 broad.mit.edu 37 12 104126933 104126933 + Silent SNP G G A rs145207929 by1000genomes TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:104126933G>A ENST00000388887.2 + 51 5637 c.5433G>A c.(5431-5433)ttG>ttA p.L1811L NM_017564.9 NP_060034.9 Q8WWQ8 STAB2_HUMAN stabilin 2 1811 FAS1 6. angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis cytoplasm|external side of plasma membrane|integral to plasma membrane Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2) 174 AGGAGTATTTGAAGTTTCATG 0.468000 45 121 0 0 1 0 0 GRIA2 2891 broad.mit.edu 37 4 158262426 158262426 + Missense_Mutation SNP G G T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:158262426G>T ENST00000296526.7 + 12 2180 c.1855G>T c.(1855-1857)Ggg>Tgg p.G619W GRIA2_ENST00000393815.2_Missense_Mutation_p.G572W|GRIA2_ENST00000264426.9_Missense_Mutation_p.G619W|GRIA2_ENST00000449365.1_Missense_Mutation_p.G572W|GRIA2_ENST00000507898.1_Missense_Mutation_p.G572W NM_000826.3 NP_000817.2 P42262 GRIA2_HUMAN glutamate receptor, ionotropic, AMPA 2 619 synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 79 all_hematologic(180;0.24) Renal(120;0.0458) COAD - Colon adenocarcinoma(41;0.0294) L-Glutamic Acid(DB00142) ATCCCTCTCTGGGCGCATTGT 0.393000 55 132 4.00338e-15 4.03593e-15 1 1 0 OR6B1 135946 broad.mit.edu 37 7 143701623 143701623 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:143701623C>T ENST00000408922.2 + 1 602 c.534C>T c.(532-534)ttC>ttT p.F178F NM_001005281.1 NP_001005281.1 O95007 OR6B1_HUMAN olfactory receptor, family 6, subfamily B, member 1 178 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(3)|large_intestine(3)|lung(15)|ovary(2)|skin(2)|urinary_tract(1) 27 Melanoma(164;0.0783) ACCACTTCTTCTGTGACATCT 0.488000 43 128 0 0 1 0 0 OR11L1 391189 broad.mit.edu 37 1 248004380 248004380 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:248004380G>A ENST00000355784.2 - 1 874 c.819C>T c.(817-819)atC>atT p.I273I NM_001001959.1 NP_001001959.1 Q8NGX0 O11L1_HUMAN olfactory receptor, family 11, subfamily L, member 1 273 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 57 all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858) OV - Ovarian serous cystadenocarcinoma(106;0.0319) AGACAGAAATGATCTTGTTGA 0.473000 20 89 0 0 1 0 0 CCDC102B 79839 broad.mit.edu 37 18 66506087 66506087 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr18:66506087G>A ENST00000360242.5 + 3 868 c.751G>A c.(751-753)Gaa>Aaa p.E251K CCDC102B_ENST00000319445.6_Missense_Mutation_p.E251K|CCDC102B_ENST00000577772.1_3'UTR|CCDC102B_ENST00000584156.1_Missense_Mutation_p.E251K|CCDC102B_ENST00000358653.5_Missense_Mutation_p.E251K NM_024781.2 NP_079057.2 Q68D86 C102B_HUMAN coiled-coil domain containing 102B 251 breast(2)|endometrium(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|stomach(1) 36 Esophageal squamous(42;0.0559)|Colorectal(73;0.0604) TCTGCCTTTGGAAAATGAAGT 0.388000 26 39 0 0 1 0 0 SNTG2 54221 broad.mit.edu 37 2 1271294 1271294 + Nonsense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:1271294G>A ENST00000308624.5 + 14 1364 c.1235G>A c.(1234-1236)tGg>tAg p.W412* SNTG2_ENST00000407292.1_Nonsense_Mutation_p.W285* NM_018968.3 NP_061841.2 Q9NY99 SNTG2_HUMAN syntrophin, gamma 2 412 PH. central nervous system development cytoplasm|cytoskeleton|sarcolemma|syntrophin complex actin binding|PDZ domain binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 52 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.00469) all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173) CTGGCCATGTGGGAGAAGTCC 0.542000 12 31 0 0 1 0 0 SLC6A11 6538 broad.mit.edu 37 3 10967745 10967745 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:10967745C>T ENST00000254488.2 + 9 1242 c.1176C>T c.(1174-1176)tcC>tcT p.S392S NM_014229.1 NP_055044.1 P48066 S6A11_HUMAN solute carrier family 6 (neurotransmitter transporter), member 11 392 neurotransmitter secretion integral to plasma membrane gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(13)|ovary(1)|skin(4) 35 OV - Ovarian serous cystadenocarcinoma(96;0.229) TGCCTCTCTCCCCGCTGTGGG 0.642000 124 357 0 0 1 0 0 BTN2A3P 54718 broad.mit.edu 37 6 26426594 26426594 + RNA SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:26426594C>T ENST00000466808.2 + 0 910 ACGGTGAGGTCGTGCCTGCCC 0.587000 46 117 0 0 1 0 0 CCDC97 90324 broad.mit.edu 37 19 41825558 41825558 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:41825558C>T ENST00000269967.3 + 3 704 c.582C>T c.(580-582)acC>acT p.T194T NM_052848.1 NP_443080.1 Q96F63 CCD97_HUMAN coiled-coil domain containing 97 194 biliary_tract(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6) 17 AGTATCTCACCCAGGAGGAGC 0.647000 6 213 0 0 1 0 0 XKR7 343702 broad.mit.edu 37 20 30556347 30556347 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr20:30556347G>A ENST00000217299.3 + 1 543 c.369G>A c.(367-369)ccG>ccA p.P123P NM_001011718.1 NP_001011718.1 Q5GH72 XKR7_HUMAN XK, Kell blood group complex subunit-related family, member 7 123 integral to membrane breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 34 Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347) CAGGGTCCCCGGGACCCGCCG 0.672000 19 16 0 0 1 0 0 USP29 57663 broad.mit.edu 37 19 57641733 57641733 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:57641733G>A ENST00000254181.4 + 4 2144 c.1690G>A c.(1690-1692)Gaa>Aaa p.E564K USP29_ENST00000598197.1_Missense_Mutation_p.E564K NM_020903.2 NP_065954.1 Q9HBJ7 UBP29_HUMAN ubiquitin specific peptidase 29 564 protein modification process|ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 85 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) TGAAGTCCTGGAAGTCTCTCA 0.443000 74 155 0 0 1 0 0 GABRR1 2569 broad.mit.edu 37 6 89888648 89888648 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:89888648C>T ENST00000435811.1 - 9 1684 c.1230G>A c.(1228-1230)ctG>ctA p.L410L GABRR1_ENST00000454853.2_Silent_p.L427L|GABRR1_ENST00000369451.3_Silent_p.L340L NM_001256703.1 NP_001243632.1 P24046 GBRR1_HUMAN gamma-aminobutyric acid (GABA) A receptor, rho 1 427 gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(7)|lung(16)|pancreas(1)|prostate(1)|skin(1)|stomach(1) 35 all_cancers(76;9.49e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.46e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114) BRCA - Breast invasive adenocarcinoma(108;0.00917) Picrotoxin(DB00466) AGGCCAGGGTCAGCTGCACCA 0.537000 112 63 0 0 1 0 0 ATP2B2 491 broad.mit.edu 37 3 10452398 10452398 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:10452398C>T ENST00000397077.1 - 5 876 c.301G>A c.(301-303)Gag>Aag p.E101K ATP2B2_ENST00000352432.4_Missense_Mutation_p.E101K|ATP2B2_ENST00000343816.4_Missense_Mutation_p.E101K|ATP2B2_ENST00000383800.4_Missense_Mutation_p.E101K|ATP2B2_ENST00000360273.2_Missense_Mutation_p.E101K Q01814 AT2B2_HUMAN ATPase, Ca++ transporting, plasma membrane 2 101 ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation cytosol|integral to membrane|plasma membrane ATP binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2) 74 TGCAGCGCCTCCCACACGAGC 0.557000 126 364 0 0 1 0 0 TBC1D32 221322 broad.mit.edu 37 6 121544469 121544469 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:121544469G>A ENST00000275159.6 - 21 2393 c.2394C>T c.(2392-2394)tcC>tcT p.S798S TBC1D32_ENST00000398197.2_5'UTR|TBC1D32_ENST00000398212.2_Silent_p.S798S TBC1 domain family, member 32 TAGCAGGATAGGATAACAAGT 0.343000 6 95 0 0 1 0 0 SPHKAP 80309 broad.mit.edu 37 2 228881276 228881276 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:228881276C>T ENST00000392056.3 - 7 4340 c.4294G>A c.(4294-4296)Gaa>Aaa p.E1432K SPHKAP_ENST00000344657.5_Missense_Mutation_p.E1432K NM_001142644.1 NP_001136116.1 Q2M3C7 SPKAP_HUMAN SPHK1 interactor, AKAP domain containing 1432 cytoplasm protein binding NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 185 Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23) Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232) TGATCTGTTTCAATCTGAATC 0.453000 37 98 0 0 1 0 0 PDE2A 5138 broad.mit.edu 37 11 72301547 72301547 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:72301547G>A ENST00000334456.5 - 8 872 c.627C>T c.(625-627)ccC>ccT p.P209P PDE2A_ENST00000444035.2_Silent_p.P200P|PDE2A_ENST00000376450.3_Intron|PDE2A_ENST00000418754.2_Silent_p.P94P|PDE2A_ENST00000544570.1_Silent_p.P202P|PDE2A_ENST00000540345.1_Silent_p.P200P NM_002599.4 NP_002590.1 O00408 PDE2A_HUMAN phosphodiesterase 2A, cGMP-stimulated 209 platelet activation|signal transduction cytosol 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity|metal ion binding breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 36 BRCA - Breast invasive adenocarcinoma(5;3.55e-05) Sildenafil(DB00203)|Sulindac(DB00605) TCCCCTCCGGGGGGTTCTGGA 0.736000 3 16 0 0 1 0 0 TET1 80312 broad.mit.edu 37 10 70333054 70333054 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:70333054C>T ENST00000373644.4 + 2 1168 c.959C>T c.(958-960)tCt>tTt p.S320F NM_030625.2 NP_085128.2 Q8NFU7 TET1_HUMAN tet methylcytosine dioxygenase 1 320 DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2) 21 CTTGGTGGGTCTACGTCTCCT 0.458000 6 212 0 0 1 0 0 CYFIP2 26999 broad.mit.edu 37 5 156786060 156786060 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:156786060C>T ENST00000442283.2 + 25 2856 c.574C>T c.(574-576)Cgt>Tgt p.R192C CYFIP2_ENST00000347377.6_Silent_p.F907F|CYFIP2_ENST00000435847.2_Silent_p.F606F|CYFIP2_ENST00000522463.1_Silent_p.F711F|CYFIP2_ENST00000377576.3_Silent_p.F907F|CYFIP2_ENST00000318218.6_Silent_p.F932F|CYFIP2_ENST00000521420.1_Silent_p.F881F|CYFIP2_ENST00000541131.1_Silent_p.F832F NM_001037333.1 NP_001032410.1 Q96F07 CYFP2_HUMAN cytoplasmic FMR1 interacting protein 2 0 apoptosis|cell-cell adhesion cell junction|perinuclear region of cytoplasm|synapse|synaptosome protein binding p.F932F(2) breast(1)|endometrium(12)|kidney(2)|lung(23) 38 Renal(175;0.00212) Medulloblastoma(196;0.0306)|all_neural(177;0.0897) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) ACAGGAATTTCGTGGGGCCAC 0.488000 13 258 0 0 1 0 0 UBXN2B 137886 broad.mit.edu 37 8 59360028 59360028 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:59360028C>T ENST00000399598.2 + 8 1036 c.914C>T c.(913-915)cCg>cTg p.P305L NM_001077619.1 NP_001071087.1 Q14CS0 UBX2B_HUMAN UBX domain protein 2B 305 UBX. cytosol|endoplasmic reticulum|Golgi apparatus|nucleus p.P305L(1) endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 13 ACTTCATTTCCGAATAAAGAG 0.388000 54 78 0 0 1 0 0 ANO2 57101 broad.mit.edu 37 12 5756937 5756937 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:5756937G>A ENST00000327087.8 - 16 1647 c.1576C>T c.(1576-1578)Cgt>Tgt p.R526C ANO2_ENST00000546188.1_Missense_Mutation_p.R527C|ANO2_ENST00000538154.1_5'UTR|ANO2_ENST00000356134.5_Missense_Mutation_p.R527C Q9NQ90 ANO2_HUMAN anoctamin 2 531 chloride channel complex|plasma membrane intracellular calcium activated chloride channel activity p.R527C(1)|p.R526C(1) central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1) 58 CCTGGGAAACGATCCTTCCAG 0.438000 11 12 0 0 1 0 0 OTUD6A 139562 broad.mit.edu 37 X 69283045 69283045 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chrX:69283045C>T ENST00000338352.2 + 1 705 c.671C>T c.(670-672)gCc>gTc p.A224V NM_207320.1 NP_997203.1 Q7L8S5 OTU6A_HUMAN OTU domain containing 6A 224 OTU. autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|skin(3)|urinary_tract(1) 23 GAGCTGAGGGCCCTGTCGCAC 0.617000 41 11 0 0 1 0 0 HNRNPCL1 343069 broad.mit.edu 37 1 12908038 12908038 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:12908038C>T ENST00000317869.6 - 2 330 c.105G>A c.(103-105)gcG>gcA p.A35A NM_001013631.1|NM_001136561.2|NM_001146181.1 NP_001013653.1|NP_001130033.2|NP_001139653.1 heterogeneous nuclear ribonucleoprotein C-like 1 p.A35A(1) NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|stomach(2) 29 TGGAAAAGATCGCCTCCACAT 0.473000 80 217 0 0 1 0 0 SLC28A1 9154 broad.mit.edu 37 15 85478657 85478657 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr15:85478657G>A ENST00000394573.1 + 15 1691 c.1489G>A c.(1489-1491)Gag>Aag p.E497K SLC28A1_ENST00000286749.3_Missense_Mutation_p.E497K|SLC28A1_ENST00000537216.1_Missense_Mutation_p.E497K|SLC28A1_ENST00000537624.1_Missense_Mutation_p.E497K|SLC28A1_ENST00000538177.1_Intron NM_004213.3 NP_004204.3 O00337 S28A1_HUMAN solute carrier family 28 (concentrative nucleoside transporter), member 1 497 nucleobase, nucleoside and nucleotide metabolic process integral to plasma membrane|membrane fraction nucleoside binding breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1) 41 BRCA - Breast invasive adenocarcinoma(143;0.0587) GTTTCTGAACGAGTTTGTGGC 0.597000 59 109 0 0 1 0 0 GSTM5 2949 broad.mit.edu 37 1 110256324 110256324 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:110256324G>A ENST00000369813.1 + 3 1083 c.178G>A c.(178-180)Gag>Aag p.E60K GSTM5_ENST00000256593.3_Missense_Mutation_p.E101K|GSTM5_ENST00000369812.5_Missense_Mutation_p.E120K|GSTM5_ENST00000492718.1_3'UTR P46439 GSTM5_HUMAN glutathione S-transferase mu 5 101 GST N-terminal.|Glutathione binding (By similarity). xenobiotic metabolic process endoplasmic reticulum membrane glutathione transferase activity NS(1)|central_nervous_system(6)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2) 21 all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244) Colorectal(144;0.0131)|all cancers(265;0.0252)|Epithelial(280;0.0265)|Lung(183;0.0425)|COAD - Colon adenocarcinoma(174;0.0474)|LUSC - Lung squamous cell carcinoma(189;0.228) Glutathione(DB00143) GGACATTTTGGAGAACCAGGT 0.532000 20 39 0 0 1 0 0 VPS13B 157680 broad.mit.edu 37 8 100523541 100523541 + Silent SNP T T A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:100523541T>A ENST00000358544.2 + 29 4620 c.4509T>A c.(4507-4509)ctT>ctA p.L1503L VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Silent_p.L1478L NM_017890.4 NP_060360.3 Q7Z7G8 VP13B_HUMAN vacuolar protein sorting 13 homolog B (yeast) 1503 protein transport NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9) 193 Breast(36;3.73e-07) OV - Ovarian serous cystadenocarcinoma(57;0.00636) ATATTGTTCTTTATTTTCCTT 0.363000 35 46 0 0 1 0 0 SYT16 83851 broad.mit.edu 37 14 62547909 62547909 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr14:62547909G>A ENST00000430451.2 + 4 1548 c.1351G>A c.(1351-1353)Gag>Aag p.E451K NM_031914.2 NP_114120.2 Q17RD7 SYT16_HUMAN synaptotagmin XVI 451 C2 1. central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 35 OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118) AATGATGGGAGAGAAACTATT 0.522000 8 26 0 0 1 0 0 DRD5 1816 broad.mit.edu 37 4 9784435 9784435 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:9784435C>T ENST00000304374.2 + 1 1178 c.782C>T c.(781-783)tCc>tTc p.S261F NM_000798.4 NP_000789.1 P21918 DRD5_HUMAN dopamine receptor D5 261 activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic integral to plasma membrane NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1) 57 Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624) AGGATTTCCTCCCTGGAGAGG 0.627000 39 52 0 0 1 0 0 PPFIA2 8499 broad.mit.edu 37 12 81719646 81719646 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:81719646C>T ENST00000550584.2 - 21 2847 c.2552G>A c.(2551-2553)gGc>gAc p.G851D PPFIA2_ENST00000548586.1_Missense_Mutation_p.G851D|PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000407050.4_Missense_Mutation_p.G777D|PPFIA2_ENST00000549325.1_Missense_Mutation_p.G833D|PPFIA2_ENST00000550359.2_Missense_Mutation_p.G698D|PPFIA2_ENST00000541017.1_Missense_Mutation_p.G68D|PPFIA2_ENST00000552948.1_Missense_Mutation_p.G851D|PPFIA2_ENST00000549396.1_Missense_Mutation_p.G851D|PPFIA2_ENST00000443686.3_Missense_Mutation_p.G752D|PPFIA2_ENST00000333447.7_Missense_Mutation_p.G833D|PPFIA2_ENST00000541570.2_Missense_Mutation_p.G418D NM_001220473.1 NP_001207402.1 B7Z663 B7Z663_HUMAN protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2 777 NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5) 85 CTCCATAAAGCCTCCTGTGAA 0.423000 11 25 0 0 1 0 0 SRRM2 23524 broad.mit.edu 37 16 2813750 2813750 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr16:2813750C>T ENST00000301740.8 + 11 3770 c.3221C>T c.(3220-3222)cCa>cTa p.P1074L NM_016333.3 NP_057417.3 Q9UQ35 SRRM2_HUMAN serine/arginine repetitive matrix 2 1074 Ser-rich. Cajal body|catalytic step 2 spliceosome|nuclear speck C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7) 105 ACTTCAAGTCCAGAAGTGAGA 0.473000 57 137 0 0 1 0 0 ZDBF2 57683 broad.mit.edu 37 2 207174070 207174070 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:207174070G>A ENST00000374423.3 + 5 5204 c.4818G>A c.(4816-4818)cgG>cgA p.R1606R NM_020923.1 NP_065974.1 Q9HCK1 ZDBF2_HUMAN zinc finger, DBF-type containing 2 1606 nucleic acid binding|zinc ion binding endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 95 TAATAAACCGGAAGAAGGACT 0.378000 15 25 0 0 1 0 0 FAT2 2196 broad.mit.edu 37 5 150886966 150886966 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:150886966C>T ENST00000261800.5 - 22 12278 c.12266G>A c.(12265-12267)aGg>aAg p.R4089K NM_001447.2 NP_001438.1 Q9NYQ8 FAT2_HUMAN FAT atypical cadherin 2 4089 epithelial cell migration|homophilic cell adhesion cell-cell adherens junction|integral to membrane|nucleus calcium ion binding NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1) 196 Medulloblastoma(196;0.0912)|all_hematologic(541;0.104) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) ACCAACACTCCTGGCCAGGAG 0.577000 45 74 0 0 1 0 0 COL15A1 1306 broad.mit.edu 37 9 101829206 101829206 + Nonsense_Mutation SNP C C T rs146129537 TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:101829206C>T ENST00000375001.3 + 40 4117 c.3694C>T c.(3694-3696)Cga>Tga p.R1232* NM_001855.3 NP_001846.3 P39059 COFA1_HUMAN collagen, type XV, alpha 1 1232 Nonhelical region 10 (NC10). angiogenesis|cell differentiation|signal transduction collagen type XV|extracellular space|integral to membrane binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 107 Acute lymphoblastic leukemia(62;0.0562) TGGGGACATTCGAGCTGATTT 0.483000 45 81 0 0 1 0 0 DSCAM 1826 broad.mit.edu 37 21 41550970 41550970 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr21:41550970G>A ENST00000400454.1 - 15 3308 c.2831C>T c.(2830-2832)tCg>tTg p.S944L NM_001389.3 NP_001380.2 O60469 DSCAM_HUMAN Down syndrome cell adhesion molecule 944 Fibronectin type-III 1. cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction protein binding NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4) 142 all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103) GATGGTGGCCGAGTTCAGCTG 0.488000 31 62 0 0 1 0 0 TLR5 7100 broad.mit.edu 37 1 223285308 223285308 + Missense_Mutation SNP A A T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:223285308A>T ENST00000540964.1 - 4 1527 c.1066T>A c.(1066-1068)Ttc>Atc p.F356I TLR5_ENST00000342210.6_Missense_Mutation_p.F356I O60602 TLR5_HUMAN toll-like receptor 5 356 cellular response to mechanical stimulus|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of toll-like receptor signaling pathway integral to membrane|plasma membrane interleukin-1 receptor binding|transmembrane receptor activity breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 32 GBM - Glioblastoma multiforme(131;0.0851) AGTCCATAGAAATTCGAACTG 0.353000 86 105 0 0 1 0 0 CXorf48 54967 broad.mit.edu 37 X 134303675 134303675 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chrX:134303675C>T ENST00000344129.2 - 2 348 c.122G>A c.(121-123)gGa>gAa p.G41E CXorf48_ENST00000276241.6_Missense_Mutation_p.G41E NM_017863.2 NP_060333.1 Q8WUE5 CX048_HUMAN chromosome X open reading frame 48 41 endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3) 5 Acute lymphoblastic leukemia(192;0.000127) TGTGACAACTCCCTGCACAGT 0.418000 19 9 0 0 1 0 0 ADAMTS2 9509 broad.mit.edu 37 5 178581122 178581122 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:178581122G>A ENST00000251582.7 - 8 1411 c.1310C>T c.(1309-1311)cCc>cTc p.P437L ADAMTS2_ENST00000274609.5_Missense_Mutation_p.P437L NM_014244.4 NP_055059.2 O95450 ATS2_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 2 437 Peptidase M12B. collagen catabolic process proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7) 72 all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326) all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GBM - Glioblastoma multiforme(465;0.0473) CTGCACCAGGGGCGCCATGAT 0.701000 7 20 0 0 1 0 0 ITGA7 3679 broad.mit.edu 37 12 56101383 56101383 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:56101383G>A ENST00000257880.7 - 1 303 c.84C>T c.(82-84)ttC>ttT p.F28F ITGA7_ENST00000555728.1_Silent_p.F28F|ITGA7_ENST00000452168.2_Intron|ITGA7_ENST00000394229.2_Silent_p.F28F|ITGA7_ENST00000553804.1_Silent_p.F28F|ITGA7_ENST00000394230.2_Silent_p.F28F|ITGA7_ENST00000347027.6_Silent_p.F28F|ITGA7_ENST00000257879.6_Silent_p.F28F Q13683 ITA7_HUMAN integrin, alpha 7 28 cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape integrin complex receptor activity breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 50 CAGCCCGTGAGAAGAGCAGTT 0.662000 7 13 0 0 1 0 0 PTPRZ1 5803 broad.mit.edu 37 7 121652081 121652081 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:121652081G>A ENST00000393386.2 + 12 3392 c.2981G>A c.(2980-2982)gGg>gAg p.G994E PTPRZ1_ENST00000483028.1_Intron|PTPRZ1_ENST00000449182.1_Intron NM_001206838.1|NM_002851.2 NP_001193767.1|NP_002842.2 P23471 PTPRZ_HUMAN protein tyrosine phosphatase, receptor-type, Z polypeptide 1 994 central nervous system development integral to plasma membrane protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2) 106 TCTGGTGATGGGGAATGGTCT 0.448000 6 252 0 0 1 0 0 CHD8 57680 broad.mit.edu 37 14 21862188 21862188 + Missense_Mutation SNP T T A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr14:21862188T>A ENST00000399982.2 - 31 5830 c.5766A>T c.(5764-5766)aaA>aaT p.K1922N CHD8_ENST00000430710.3_Missense_Mutation_p.K1643N|CHD8_ENST00000557364.1_Missense_Mutation_p.K1922N NM_001170629.1 NP_001164100.1 Q9HCK8 CHD8_HUMAN chromodomain helicase DNA binding protein 8 1922 ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent MLL1 complex ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 85 all_cancers(95;0.00121) Epithelial(56;2.55e-06)|all cancers(55;1.73e-05) GBM - Glioblastoma multiforme(265;0.00424) GCTCCCACCATTTGGGCAATT 0.547000 24 66 0 0 1 0 0 FER1L5 90342 broad.mit.edu 37 2 97363441 97363441 + RNA SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:97363441G>A ENST00000457909.1 + 0 3682 A0AVI2 FR1L5_HUMAN fer-1-like 5 (C. elegans) integral to membrane NS(1)|autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(9)|large_intestine(9)|lung(6)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2) 38 AGCTGTTCTGGGCCACAGATG 0.542000 22 56 0 0 1 0 0 MYH1 4619 broad.mit.edu 37 17 10408132 10408132 + Nonsense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:10408132G>A ENST00000226207.5 - 22 2780 c.2686C>T c.(2686-2688)Caa>Taa p.Q896* CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA NM_005963.3 NP_005954.3 P12882 MYH1_HUMAN myosin, heavy chain 1, skeletal muscle, adult 896 muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5) 176 CTCACAGCTTGAACCTGGAGT 0.423000 22 51 0 0 1 0 0 SLCO6A1 133482 broad.mit.edu 37 5 101834398 101834398 + Missense_Mutation SNP G G T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:101834398G>T ENST00000506729.1 - 1 322 c.151C>A c.(151-153)Ctg>Atg p.L51M SLCO6A1_ENST00000379807.3_Missense_Mutation_p.L51M|SLCO6A1_ENST00000389019.3_Missense_Mutation_p.L51M|SLCO6A1_ENST00000513675.1_Missense_Mutation_p.L51M|SLCO6A1_ENST00000379810.1_Missense_Mutation_p.L51M Q86UG4 SO6A1_HUMAN solute carrier organic anion transporter family, member 6A1 51 integral to membrane|plasma membrane transporter activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323) Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113) AGTAGTCTCAGATACCGGTGT 0.577000 155 311 1.23459e-71 1.25084e-71 1 1 0 ACSM2A 123876 broad.mit.edu 37 16 20477043 20477043 + Nonsense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr16:20477043C>T ENST00000573854.1 + 3 496 c.382C>T c.(382-384)Cga>Tga p.R128* ACSM2A_ENST00000219054.6_Nonsense_Mutation_p.R128*|ACSM2A_ENST00000396104.2_Nonsense_Mutation_p.R128*|ACSM2A_ENST00000424070.1_Nonsense_Mutation_p.R128*|ACSM2A_ENST00000417235.2_Nonsense_Mutation_p.R49*|ACSM2A_ENST00000575558.1_3'UTR|ACSM2A_ENST00000536134.1_5'UTR|ACSM2A_ENST00000575690.1_Nonsense_Mutation_p.R128* NM_001010845.2 NP_001010845.1 Q08AH3 ACS2A_HUMAN acyl-CoA synthetase medium-chain family member 2A 128 fatty acid metabolic process mitochondrial matrix ATP binding|butyrate-CoA ligase activity|metal ion binding breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1) 51 GGGCTGCATTCGAGCAGGTTG 0.562000 9 38 0 0 1 0 0 GABRG2 2566 broad.mit.edu 37 5 161530934 161530934 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:161530934G>A ENST00000356592.3 + 6 1131 c.671G>A c.(670-672)cGa>cAa p.R224Q GABRG2_ENST00000414552.2_Missense_Mutation_p.R264Q|GABRG2_ENST00000393933.4_Missense_Mutation_p.R129Q|GABRG2_ENST00000361925.4_Missense_Mutation_p.R224Q NM_000816.3|NM_198904.2 NP_000807.2|NP_944494.1 P18507 GBRG2_HUMAN gamma-aminobutyric acid (GABA) A receptor, gamma 2 224 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 62 Renal(175;0.000319) Medulloblastoma(196;0.0208)|all_neural(177;0.0672) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136) CAATGGAAGCGAAGTTCTGTT 0.398000 32 53 0 0 1 0 0 PPP2R2B 5521 broad.mit.edu 37 5 146077708 146077708 + Splice_Site SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:146077708C>T ENST00000394413.3 - 3 739 c.e3-1 PPP2R2B_ENST00000394410.2_Splice_Site|PPP2R2B_ENST00000504198.1_Splice_Site|PPP2R2B_ENST00000394414.1_Splice_Site|PPP2R2B_ENST00000336640.6_Splice_Site|PPP2R2B_ENST00000508545.2_Splice_Site|PPP2R2B_ENST00000394409.3_Splice_Site|PPP2R2B_ENST00000530902.1_Splice_Site|PPP2R2B_ENST00000453001.1_Splice_Site|PPP2R2B_ENST00000356826.3_Splice_Site|PPP2R2B_ENST00000394411.4_Splice_Site Q00005 2ABB_HUMAN protein phosphatase 2, regulatory subunit B, beta apoptosis|signal transduction cytoskeleton|mitochondrial outer membrane|protein phosphatase type 2A complex protein binding|protein phosphatase type 2A regulator activity endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(9)|ovary(1)|prostate(4)|skin(3) 32 KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) GATTTTTACTCTGTAGGAAAG 0.408000 64 115 0 0 1 0 0 NFKBIE 4794 broad.mit.edu 37 6 44233322 44233322 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:44233322C>T ENST00000275015.5 - 1 178 c.179G>A c.(178-180)gGa>gAa p.G60E NM_004556.2 NP_004547.2 O00221 IKBE_HUMAN nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, epsilon 60 cytoplasmic sequestering of transcription factor protein binding breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|urinary_tract(1) 10 all_cancers(18;2e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) GGGTCCTCCTCCTCGCCCCGC 0.766000 3 11 0 0 1 0 0 CCDC155 147872 broad.mit.edu 37 19 49913031 49913031 + Missense_Mutation SNP G G T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:49913031G>T ENST00000447857.3 + 15 1373 c.1168G>T c.(1168-1170)Gat>Tat p.D390Y NM_144688.4 NP_653289.3 Q8N6L0 CC155_HUMAN coiled-coil domain containing 155 390 integral to membrane calcium ion binding NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(10)|ovary(1)|stomach(1) 22 GGCAACTGCTGATCTCTCCAA 0.502000 17 54 0.000566183 0.000567726 1 1 0 SLC22A2 6582 broad.mit.edu 37 6 160662558 160662558 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:160662558G>A ENST00000366953.3 - 9 1707 c.1449C>T c.(1447-1449)ttC>ttT p.F483F SLC22A2_ENST00000491092.1_5'UTR NM_003058.3 NP_003049.2 O15244 S22A2_HUMAN solute carrier family 22 (organic cation transporter), member 2 483 body fluid secretion|neurotransmitter biosynthetic process|neurotransmitter secretion integral to plasma membrane|membrane fraction neurotransmitter transporter activity|organic cation transmembrane transporter activity breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(16)|prostate(2)|skin(1) 27 Breast(66;0.000776)|Ovarian(120;0.0303) OV - Ovarian serous cystadenocarcinoma(65;2.28e-17)|BRCA - Breast invasive adenocarcinoma(81;6.29e-06) GGTAGACCAGGAATGGCGTGA 0.423000 44 34 0 0 1 0 0 ATP10B 23120 broad.mit.edu 37 5 159992573 159992573 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:159992573C>T ENST00000327245.5 - 26 5119 c.4273G>A c.(4273-4275)Gag>Aag p.E1425K NM_025153.2 NP_079429.2 O94823 AT10B_HUMAN ATPase, class V, type 10B 1425 ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1) 75 Renal(175;0.00196) Medulloblastoma(196;0.0377)|all_neural(177;0.121) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) AGCAGGTGCTCCCCGGATGAG 0.557000 16 152 0 0 1 0 0 TRIM9 114088 broad.mit.edu 37 14 51467434 51467434 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr14:51467434C>T ENST00000298355.3 - 6 2552 c.1431G>A c.(1429-1431)ctG>ctA p.L477L TRIM9_ENST00000338969.5_Silent_p.L473L|TRIM9_ENST00000360392.4_Silent_p.L477L NM_015163.5 NP_055978.4 Q9C026 TRIM9_HUMAN tripartite motif containing 9 477 Fibronectin type-III. proteasomal ubiquitin-dependent protein catabolic process cell junction|cytoskeleton|dendrite|synaptic vesicle protein homodimerization activity|ubiquitin-protein ligase activity|zinc ion binding breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 all_epithelial(31;0.00418)|Breast(41;0.148) CATCCAGCTCCAGAATGTATC 0.547000 13 37 0 0 1 0 0 RAI1 10743 broad.mit.edu 37 17 17697985 17697985 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:17697985C>T ENST00000353383.1 + 3 2192 c.1723C>T c.(1723-1725)Cta>Tta p.L575L RAI1_ENST00000261641.6_Silent_p.L575L NM_030665.3 NP_109590.3 Q7Z5J4 RAI1_HUMAN retinoic acid induced 1 575 cytoplasm|nucleus zinc ion binding breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7) 48 READ - Rectum adenocarcinoma(1115;0.0276) CTTCCAGAGCCTACACGGCAG 0.627000 55 149 0 0 1 0 0 KMT2C 58508 broad.mit.edu 37 7 151878119 151878119 + Missense_Mutation SNP G G A rs143627631 by1000genomes TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:151878119G>A ENST00000355193.2 - 36 7044 c.6826C>T c.(6826-6828)Cct>Tct p.P2276S KMT2C_ENST00000262189.6_Missense_Mutation_p.P2276S lysine (K)-specific methyltransferase 2C GGGGGCCTAGGTGTCTGGGAA 0.532000 43 141 0 0 1 0 0 HAS1 3036 broad.mit.edu 37 19 52219574 52219574 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:52219574G>A ENST00000540069.2 - 4 1053 c.993C>T c.(991-993)acC>acT p.T331T HAS1_ENST00000601714.1_Silent_p.T339T|HAS1_ENST00000222115.1_Silent_p.T332T|HAS1_ENST00000594621.1_Intron Q92839 HAS1_HUMAN hyaluronan synthase 1 332 cell adhesion integral to plasma membrane hyaluronan synthase activity|protein binding breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(4) 40 all_neural(266;0.0189)|Medulloblastoma(540;0.146) GBM - Glioblastoma multiforme(134;0.00102)|OV - Ovarian serous cystadenocarcinoma(262;0.0177) AAGTACAGTGGGTACCCAGGA 0.542000 30 88 0 0 1 0 0 IL7R 3575 broad.mit.edu 37 5 35876529 35876529 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:35876529C>T ENST00000303115.3 + 8 1450 c.1321C>T c.(1321-1323)Ctg>Ttg p.L441L IL7R_ENST00000343305.4_3'UTR NM_002185.3 NP_002176.2 P16871 IL7RA_HUMAN interleukin 7 receptor 441 immune response|regulation of DNA recombination extracellular region|integral to membrane antigen binding|interleukin-7 receptor activity NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3) 126 all_lung(31;0.00015) Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202) TCTTACTTCCCTGGGATCAAA 0.483000 """Mis, O""" """ALL, ETP ALL""" Severe combined immune deficiency 26 64 0 0 1 0 0 ZNF25 219749 broad.mit.edu 37 10 38246405 38246405 + Nonsense_Mutation SNP G G A rs149774401 TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:38246405G>A ENST00000302609.7 - 3 297 c.85C>T c.(85-87)Cag>Tag p.Q29* ZNF25_ENST00000374633.1_5'UTR NM_145011.2 NP_659448.1 P17030 ZNF25_HUMAN zinc finger protein 25 29 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 all_neural(218;0.0218)|Breast(68;0.0389)|Ovarian(717;0.0443)|Renal(717;0.157) AGAGTCCTCTGAGCAGGGGTC 0.433000 45 131 0 0 1 0 0 EPB41L2 2037 broad.mit.edu 37 6 131211548 131211548 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:131211548G>A ENST00000337057.3 - 11 1727 c.1546C>T c.(1546-1548)Cgc>Tgc p.R516C EPB41L2_ENST00000525271.1_Missense_Mutation_p.R516C|EPB41L2_ENST00000525193.1_Missense_Mutation_p.R516C|EPB41L2_ENST00000527411.1_Missense_Mutation_p.R516C|EPB41L2_ENST00000530481.1_Missense_Mutation_p.R516C|EPB41L2_ENST00000528282.1_Missense_Mutation_p.R516C|EPB41L2_ENST00000445890.2_Missense_Mutation_p.R516C|EPB41L2_ENST00000368128.2_Missense_Mutation_p.R516C|EPB41L2_ENST00000527659.1_Missense_Mutation_p.R516C|EPB41L2_ENST00000529208.1_Missense_Mutation_p.R516C|EPB41L2_ENST00000392427.3_Missense_Mutation_p.R516C NM_001431.3 NP_001422.1 O43491 E41L2_HUMAN erythrocyte membrane protein band 4.1-like 2 516 Hydrophilic. cortical actin cytoskeleton organization extrinsic to membrane|plasma membrane|spectrin actin binding|structural molecule activity autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2) 44 Breast(56;0.0639) OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355) CCACTATAGCGAAATTTGGAC 0.517000 55 119 0 0 1 0 0 CACNA1G 8913 broad.mit.edu 37 17 48696175 48696175 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:48696175G>A ENST00000352832.5 + 31 5857 c.5485G>A c.(5485-5487)Gag>Aag p.E1829K CACNA1G_ENST00000515411.1_Missense_Mutation_p.E1845K|CACNA1G_ENST00000514717.1_Missense_Mutation_p.E1806K|CACNA1G_ENST00000429973.2_Missense_Mutation_p.E1845K|CACNA1G_ENST00000503485.1_Missense_Mutation_p.E1829K|CACNA1G_ENST00000514181.1_Missense_Mutation_p.E1838K|CACNA1G_ENST00000515165.1_Missense_Mutation_p.E1863K|CACNA1G_ENST00000514079.1_Missense_Mutation_p.E1870K|CACNA1G_ENST00000359106.5_Missense_Mutation_p.E1863K|CACNA1G_ENST00000505165.1_Missense_Mutation_p.E1863K|CACNA1G_ENST00000513964.1_Missense_Mutation_p.E1818K|CACNA1G_ENST00000502264.1_Missense_Mutation_p.E1840K|CACNA1G_ENST00000358244.5_Missense_Mutation_p.E1829K|CACNA1G_ENST00000512389.1_Missense_Mutation_p.E1852K|CACNA1G_ENST00000510115.1_Missense_Mutation_p.E1829K|CACNA1G_ENST00000510366.1_Missense_Mutation_p.E1811K|CACNA1G_ENST00000360761.4_Missense_Mutation_p.E1840K|CACNA1G_ENST00000513689.2_Missense_Mutation_p.E1818K|CACNA1G_ENST00000507336.1_Missense_Mutation_p.E1852K|CACNA1G_ENST00000442258.2_Missense_Mutation_p.E1822K|CACNA1G_ENST00000507510.2_Missense_Mutation_p.E1863K|CACNA1G_ENST00000354983.4_Missense_Mutation_p.E1829K|CACNA1G_ENST00000507609.1_Missense_Mutation_p.E1856K|CACNA1G_ENST00000515765.1_Missense_Mutation_p.E1852K|CACNA1G_ENST00000507896.1_Missense_Mutation_p.E1852K NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2 NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1 O43497 CAC1G_HUMAN calcium channel, voltage-dependent, T type, alpha 1G subunit 1863 axon guidance voltage-gated calcium channel complex low voltage-gated calcium channel activity breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23) 47 Breast(11;6.7e-17) BRCA - Breast invasive adenocarcinoma(22;7.52e-09) Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909) GGAGGCCAAGGAGGAGGCCGA 0.627000 5 59 0 0 1 0 0 OR52E8 390079 broad.mit.edu 37 11 5878282 5878282 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:5878282G>A ENST00000537935.1 - 1 682 c.651C>T c.(649-651)atC>atT p.I217I TRIM5_ENST00000380027.1_Intron NM_001005168.1 NP_001005168.1 Q6IFG1 O52E8_HUMAN olfactory receptor, family 52, subfamily E, member 8 217 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 20 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.114) Epithelial(150;2.37e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) GAATAATAAGGATAACATCCA 0.478000 30 33 0 0 1 0 0 ZNF160 90338 broad.mit.edu 37 19 53572226 53572226 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:53572226G>A ENST00000601421.1 - 3 2329 c.1453C>T c.(1453-1455)Cgt>Tgt p.R485C ZNF160_ENST00000418871.1_Missense_Mutation_p.R521C|ZNF160_ENST00000429604.1_Missense_Mutation_p.R521C|ZNF160_ENST00000599056.1_Missense_Mutation_p.R521C Q9HCG1 ZN160_HUMAN zinc finger protein 160 521 hemopoiesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.R521C(1) NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 35 GBM - Glioblastoma multiforme(134;0.02) AGACTTGAACGAACACTGAAG 0.398000 53 132 0 0 1 0 0 ANGPTL1 9068 broad.mit.edu 37 1 178834408 178834408 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:178834408C>T ENST00000234816.2 - 3 951 c.504G>A c.(502-504)atG>atA p.M168I RALGPS2_ENST00000324778.4_Intron|RALGPS2_ENST00000367635.3_Intron|RALGPS2_ENST00000367634.2_Intron|ANGPTL1_ENST00000367629.1_Missense_Mutation_p.M168I NM_004673.3 NP_004664.1 O95841 ANGL1_HUMAN angiopoietin-like 1 168 extracellular space receptor binding breast(2)|endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1) 14 ATCTTGTTGCCATCTTCAACA 0.383000 6 62 0 0 1 0 0 SLC16A5 9121 broad.mit.edu 37 17 73096826 73096826 + Silent SNP C C T rs138345813 TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:73096826C>T ENST00000450736.2 + 4 1483 c.1068C>T c.(1066-1068)atC>atT p.I356I SLC16A5_ENST00000538213.2_Silent_p.I396I|SLC16A5_ENST00000580123.1_Silent_p.I356I|SLC16A5_ENST00000329783.4_Silent_p.I356I O15375 MOT6_HUMAN solute carrier family 16 (monocarboxylate transporter), member 5 356 organic anion transport integral to plasma membrane|membrane fraction secondary active monocarboxylate transmembrane transporter activity|symporter activity central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1) 22 all_lung(278;0.226) LUSC - Lung squamous cell carcinoma(166;0.162)|Lung(188;0.235) Pyruvic acid(DB00119) TCATGGACATCGTCCCCATGG 0.617000 25 89 0 0 1 0 0 XIRP2 129446 broad.mit.edu 37 2 168103242 168103242 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:168103242C>T ENST00000409195.1 + 9 5429 c.5340C>T c.(5338-5340)atC>atT p.I1780I XIRP2_ENST00000295237.9_Silent_p.I1780I|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409273.1_Silent_p.I1558I NM_152381.5 NP_689594.4 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 1605 actin cytoskeleton organization cell junction actin binding NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7) 315 AGAAAGAAATCATTGGTGGTG 0.418000 6 113 0 0 1 0 0 SPATA31A3 727830 broad.mit.edu 37 9 40702793 40702793 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:40702793C>T ENST00000356699.5 + 4 479 c.450C>T c.(448-450)tcC>tcT p.S150S SPATA31A3_ENST00000463536.1_3'UTR NM_001083124.1 NP_001076593.1 SPATA31 subfamily A, member 3 CCATTCTCTCCCTGTTAGCTT 0.597000 142 498 0 0 1 0 0 SLC6A19 340024 broad.mit.edu 37 5 1217037 1217037 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:1217037G>A ENST00000304460.10 + 8 1206 c.1150G>A c.(1150-1152)Gac>Aac p.D384N NM_001003841.2 NP_001003841.1 Q695T7 S6A19_HUMAN solute carrier family 6 (neutral amino acid transporter), member 19 384 cellular nitrogen compound metabolic process integral to plasma membrane amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(25)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 44 all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10) Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185) CCAGACCTGCGACATCAACGC 0.657000 100 193 0 0 1 0 0 APEX2 27301 broad.mit.edu 37 X 55033193 55033193 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chrX:55033193C>T ENST00000374987.3 + 6 948 c.882C>T c.(880-882)ttC>ttT p.F294F NM_014481.2 NP_055296.2 Q9UBZ4 APEX2_HUMAN APEX nuclease (apurinic/apyrimidinic endonuclease) 2 294 cell cycle|DNA recombination|DNA repair nucleus DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|endonuclease activity|exonuclease activity|zinc ion binding breast(1)|endometrium(8)|large_intestine(4)|lung(6)|prostate(1)|urinary_tract(1) 21 AGGCCTCTTTCCTGCTGCCTG 0.602000 Other BER factors 18 6 0 0 1 0 0 CAMKK1 84254 broad.mit.edu 37 17 3779539 3779539 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:3779539G>A ENST00000381771.2 - 11 1235 c.1088C>T c.(1087-1089)tCc>tTc p.S363F CAMKK1_ENST00000381769.2_Missense_Mutation_p.S352F|CAMKK1_ENST00000348335.2_Missense_Mutation_p.S325F|CAMKK1_ENST00000158166.5_Missense_Mutation_p.S363F Q8N5S9 KKCC1_HUMAN calcium/calmodulin-dependent protein kinase kinase 1, alpha 325 Protein kinase. synaptic transmission cytosol|nucleus ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1) 11 LUAD - Lung adenocarcinoma(2;2.11e-05)|Lung(3;0.0176) GCTCTGGCCGGAATCAGAAAT 0.627000 13 75 0 0 1 0 0 MAP3K8 1326 broad.mit.edu 37 10 30748208 30748208 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:30748208G>A ENST00000263056.1 + 8 1747 c.1051G>A c.(1051-1053)Gaa>Aaa p.E351K MAP3K8_ENST00000542547.1_Missense_Mutation_p.E351K|MAP3K8_ENST00000375321.1_Missense_Mutation_p.E351K NM_001244134.1|NM_005204.3 NP_001231063.1|NP_005195.2 P41279 M3K8_HUMAN mitogen-activated protein kinase kinase kinase 8 351 Protein kinase. cell cycle|T cell costimulation cytosol ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 23 Prostate(175;0.151) ACCTCCACTGGAAGACATTGC 0.498000 26 64 0 0 1 0 0 ZNF782 158431 broad.mit.edu 37 9 99580875 99580875 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:99580875G>A ENST00000481138.1 - 6 2091 c.1430C>T c.(1429-1431)cCt>cTt p.P477L ZNF782_ENST00000535338.1_Missense_Mutation_p.P345L NM_001001662.1 NP_001001662.1 Q6ZMW2 ZN782_HUMAN zinc finger protein 782 477 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(8)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(3) 33 Acute lymphoblastic leukemia(62;0.0527) ACATTCAAAAGGTTTCTCCCC 0.413000 85 201 0 0 1 0 0 IKZF2 22807 broad.mit.edu 37 2 213872178 213872178 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:213872178C>T ENST00000457361.1 - 8 1655 c.1487G>A c.(1486-1488)cGg>cAg p.R496Q IKZF2_ENST00000374327.4_Missense_Mutation_p.R351Q|IKZF2_ENST00000434687.1_Missense_Mutation_p.R496Q|IKZF2_ENST00000342002.2_Missense_Mutation_p.R502Q|IKZF2_ENST00000413091.3_3'UTR|IKZF2_ENST00000421754.2_Missense_Mutation_p.R422Q|IKZF2_ENST00000451136.2_Missense_Mutation_p.R424Q|IKZF2_ENST00000374319.4_Missense_Mutation_p.R470Q NM_016260.2 NP_057344.2 Q9UKS7 IKZF2_HUMAN IKAROS family zinc finger 2 (Helios) 496 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 Esophageal squamous(248;0.0559)|Renal(323;0.218) UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;2.97e-07)|all cancers(144;1.53e-05)|LUSC - Lung squamous cell carcinoma(224;0.00599)|Lung(261;0.00792) CAGTGGGTCCCGGTAGCCATG 0.507000 63 129 0 0 1 0 0 ADAMTSL1 92949 broad.mit.edu 37 9 18639268 18639268 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:18639268C>T ENST00000380548.4 + 7 1032 c.693C>T c.(691-693)acC>acT p.T231T ADAMTSL1_ENST00000276935.6_Silent_p.T231T|ADAMTSL1_ENST00000327883.7_Silent_p.T231T|ADAMTSL1_ENST00000380566.4_Silent_p.T231T NM_001040272.5 NP_001035362.3 Q8N6G6 ATL1_HUMAN ADAMTS-like 1 231 proteinaceous extracellular matrix metallopeptidase activity|zinc ion binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 42 GBM - Glioblastoma multiforme(50;1.29e-17) AAACCAAAACCCTCCAGGGGA 0.428000 17 17 0 0 1 0 0 HUNK 30811 broad.mit.edu 37 21 33371134 33371134 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr21:33371134C>T ENST00000270112.2 + 11 2142 c.1782C>T c.(1780-1782)tcC>tcT p.S594S NM_014586.1 NP_055401.1 P57058 HUNK_HUMAN hormonally up-regulated Neu-associated kinase 594 multicellular organismal development|signal transduction ATP binding|protein serine/threonine kinase activity breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(2)|stomach(1) 30 GCAGAAATTCCAGCGAGAGGA 0.552000 25 56 0 0 1 0 0 CHD5 26038 broad.mit.edu 37 1 6196641 6196641 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:6196641G>A ENST00000262450.3 - 17 2731 c.2632C>T c.(2632-2634)Ccc>Tcc p.P878S CHD5_ENST00000378021.1_5'UTR NM_015557.2 NP_056372.1 Q8TDI0 CHD5_HUMAN chromodomain helicase DNA binding protein 5 878 Helicase ATP-binding. chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2) 16 Ovarian(185;0.0634) all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15) Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193) TTCTGAAGGGGGGTCCCTGTC 0.557000 56 123 0 0 1 0 0 MAGEB18 286514 broad.mit.edu 37 X 26157494 26157494 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chrX:26157494G>A ENST00000325250.1 + 2 579 c.392G>A c.(391-393)gGa>gAa p.G131E NM_173699.3 NP_775970.1 Q96M61 MAGBI_HUMAN melanoma antigen family B, 18 131 MAGE. protein binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(17)|skin(2)|stomach(1)|urinary_tract(2) 33 ATTACAAAGGGAGATATGATA 0.423000 3 5 0 0 1 0 0 PVRL3 25945 broad.mit.edu 37 3 110831176 110831176 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:110831176C>T ENST00000485303.1 + 2 735 c.460C>T c.(460-462)Ccg>Tcg p.P154S PVRL3_ENST00000319792.3_Missense_Mutation_p.P154S|PVRL3_ENST00000493615.1_Missense_Mutation_p.P131S|PVRL3_ENST00000488016.1_3'UTR NM_001243286.1|NM_015480.2 NP_001230215.1|NP_056295.1 Q9NQS3 PVRL3_HUMAN poliovirus receptor-related 3 154 Ig-like V-type. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane cell adhesion molecule binding|protein homodimerization activity breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(3) 19 TGTTACATTCCCGCTTGGAAA 0.338000 5 102 0 0 1 0 0 SPTB 6710 broad.mit.edu 37 14 65262127 65262127 + Silent SNP G G A rs149192360 byFrequency TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr14:65262127G>A ENST00000389722.3 - 11 1625 c.1572C>T c.(1570-1572)ctC>ctT p.L524L SPTB_ENST00000556626.1_Silent_p.L524L|SPTB_ENST00000389720.3_Silent_p.L524L|SPTB_ENST00000389721.5_Silent_p.L524L|SPTB_ENST00000542895.1_Silent_p.L524L NM_001024858.2 NP_001020029.1 P11277 SPTB1_HUMAN spectrin, beta, erythrocytic 524 actin filament capping|axon guidance cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton actin filament binding|structural constituent of cytoskeleton breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3) 106 all_lung(585;4.15e-09) all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628) GGGTGGTCTCGAGCCTCTGGC 0.622000 23 71 0 0 1 0 0 PSME4 23198 broad.mit.edu 37 2 54135958 54135958 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:54135958G>A ENST00000404125.1 - 22 2647 c.2592C>T c.(2590-2592)caC>caT p.H864H PSME4_ENST00000421748.2_Intron NM_014614.2 NP_055429.2 Q14997 PSME4_HUMAN proteasome (prosome, macropain) activator subunit 4 864 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|spermatogenesis|viral reproduction nuclear speck|proteasome complex binding breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2) 60 Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181) TTACTTCTCGGTGGTTCTCTC 0.303000 44 110 0 0 1 0 0 OR2A12 346525 broad.mit.edu 37 7 143792671 143792671 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:143792671C>T ENST00000408949.2 + 1 531 c.471C>T c.(469-471)gtC>gtT p.V157V NM_001004135.1 NP_001004135.1 Q8NGT7 O2A12_HUMAN olfactory receptor, family 2, subfamily A, member 12 157 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(14)|ovary(2) 25 Melanoma(164;0.0783) TGGCTCTGGTCCATATTACTC 0.448000 82 160 0 0 1 0 0 MAGEC1 9947 broad.mit.edu 37 X 140995322 140995322 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chrX:140995322C>T ENST00000285879.4 + 4 2418 c.2132C>T c.(2131-2133)cCt>cTt p.P711L MAGEC1_ENST00000406005.2_Intron NM_005462.4 NP_005453.2 O60732 MAGC1_HUMAN melanoma antigen family C, 1 711 protein binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1) 127 Acute lymphoblastic leukemia(192;6.56e-05) CTCCATTTTCCTCAGAGTCCT 0.557000 HNSCC(15;0.026) 96 45 0 0 1 0 0 NCOA3 8202 broad.mit.edu 37 20 46268712 46268712 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr20:46268712C>T ENST00000372004.3 + 16 3213 c.2997C>T c.(2995-2997)ggC>ggT p.G999G NCOA3_ENST00000341724.6_Silent_p.G929G|NCOA3_ENST00000371997.3_Silent_p.G994G|NCOA3_ENST00000371998.3_Silent_p.G999G NM_001174087.1|NM_001174088.1|NM_006534.3|NM_181659.2 NP_001167558.1|NP_001167559.1|NP_006525.2|NP_858045.1 Q9Y6Q9 NCOA3_HUMAN nuclear receptor coactivator 3 999 androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleoplasm androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 52 ATCCCTATGGCCAAGCAGCAG 0.468000 31 71 0 0 1 0 0 ERC2 26059 broad.mit.edu 37 3 55733455 55733455 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:55733455C>T ENST00000288221.6 - 16 3053 c.2798G>A c.(2797-2799)cGa>cAa p.R933Q NM_015576.1 NP_056391.1 O15083 ERC2_HUMAN ELKS/RAB6-interacting/CAST family member 2 933 cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome protein binding p.R933Q(2) breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1) 31 KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219) CCCAGGAGATCgatggtggtg 0.493000 92 164 0 0 1 0 0 SCN3B 55800 broad.mit.edu 37 11 123508916 123508916 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:123508916C>T ENST00000392770.2 - 4 1364 c.562G>A c.(562-564)Gaa>Aaa p.E188K SCN3B_ENST00000530277.1_Missense_Mutation_p.E188K|SCN3B_ENST00000299333.3_Missense_Mutation_p.E188K NM_018400.3 NP_060870.1 Q9NY72 SCN3B_HUMAN sodium channel, voltage-gated, type III, beta subunit 188 axon guidance integral to membrane|plasma membrane voltage-gated sodium channel activity p.E188K(1) central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|skin(2) 26 Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;5.37e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0227) GCTGCCTCTTCGGCTTTTGAG 0.463000 24 17 0 0 1 0 0 GRIN2B 2904 broad.mit.edu 37 12 13716663 13716663 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:13716663C>T ENST00000279593.3 - 13 3718 c.3509G>A c.(3508-3510)gGa>gAa p.G1170E NM_000834.3 NP_000825.2 Q13224 NMDE2_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2B 1170 response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1) 143 Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) ACAGGGCCCTCCTCCGCTGAC 0.587000 41 67 0 0 1 0 0 PCDH15 65217 broad.mit.edu 37 10 55626567 55626567 + Silent SNP T T A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:55626567T>A ENST00000373965.2 - 28 3967 c.3573A>T c.(3571-3573)atA>atT p.I1191I PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000437009.1_Silent_p.I1113I|PCDH15_ENST00000395445.1_Silent_p.I1191I|PCDH15_ENST00000395433.1_Silent_p.I1162I|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395430.1_Silent_p.I1184I|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000395432.2_Silent_p.I1147I|PCDH15_ENST00000395438.1_Silent_p.I1184I|PCDH15_ENST00000409834.1_Silent_p.I795I|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000361849.3_Silent_p.I1184I|PCDH15_ENST00000414778.1_Silent_p.I1189I|PCDH15_ENST00000320301.6_Silent_p.I1184I NM_001142771.1|NM_001142772.1 NP_001136243.1|NP_001136244.1 Q96QU1 PCD15_HUMAN protocadherin-related 15 1184 Cadherin 11. equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1) 237 Melanoma(3;0.117)|Lung SC(717;0.238) TTGGTGGTATTATGAGTCTGT 0.363000 HNSCC(58;0.16) 26 109 0 0 1 0 0 OR4C13 283092 broad.mit.edu 37 11 49974717 49974717 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:49974717C>T ENST00000555099.1 + 1 775 c.743C>T c.(742-744)tCc>tTc p.S248F NM_001001955.2 NP_001001955.2 Q8NGP0 OR4CD_HUMAN olfactory receptor, family 4, subfamily C, member 13 248 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.S248F(1) autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1) 43 GTCATCTTATCCTTTATACCC 0.433000 51 148 0 0 1 0 0 ZBBX 79740 broad.mit.edu 37 3 167023494 167023494 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:167023494C>T ENST00000392766.2 - 17 2002 c.1662G>A c.(1660-1662)ttG>ttA p.L554L ZBBX_ENST00000392764.1_Silent_p.L525L|ZBBX_ENST00000307529.5_Silent_p.L554L|ZBBX_ENST00000455345.2_Silent_p.L554L|ZBBX_ENST00000392767.2_Silent_p.L554L NM_001199201.1|NM_024687.3 NP_001186130.1|NP_078963.2 A8MT70 ZBBX_HUMAN zinc finger, B-box domain containing 554 intracellular zinc ion binding NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1) 70 TGCTCAATTCCAAGGATTCTT 0.323000 27 64 0 0 1 0 0 ANK3 288 broad.mit.edu 37 10 61831458 61831458 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:61831458G>A ENST00000280772.1 - 37 9372 c.9181C>T c.(9181-9183)Ccc>Tcc p.P3061S ANK3_ENST00000355288.2_Intron|ANK3_ENST00000503366.1_Intron|ANK3_ENST00000373827.2_Intron NM_020987.3 NP_066267.2 Q12955 ANK3_HUMAN ankyrin 3, node of Ranvier (ankyrin G) 3061 establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 196 TCACTAGAGGGAGATTCCTTT 0.473000 57 103 0 0 1 0 0 GLRA1 2741 broad.mit.edu 37 5 151235902 151235902 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:151235902G>A ENST00000274576.4 - 5 811 c.519C>T c.(517-519)ttC>ttT p.F173F GLRA1_ENST00000455880.2_Silent_p.F173F|GLRA1_ENST00000471351.2_5'UTR|GLRA1_ENST00000545569.1_Silent_p.F90F NM_000171.3|NM_001146040.1 NP_000162.2|NP_001139512.1 P23415 GLRA1_HUMAN glycine receptor, alpha 1 173 muscle contraction|negative regulation of transmission of nerve impulse|neuropeptide signaling pathway|positive regulation of acrosome reaction|regulation of membrane potential|startle response cell junction|chloride channel complex|integral to plasma membrane|intracellular membrane-bounded organelle|postsynaptic membrane extracellular-glycine-gated chloride channel activity|glycine binding|protein binding|receptor activity|taurine binding|transmitter-gated ion channel activity breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 23 all_hematologic(541;0.0341)|Medulloblastoma(196;0.0912) Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785) Desflurane(DB01189)|Enflurane(DB00228)|Ethanol(DB00898)|Glycine(DB00145)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236) CATCCATGGGGAAATTCTTCA 0.498000 25 52 0 0 1 0 0 TIAM2 26230 broad.mit.edu 37 6 155450828 155450828 + Missense_Mutation SNP G G T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:155450828G>T ENST00000461783.3 + 6 1744 c.471G>T c.(469-471)aaG>aaT p.K157N TIAM2_ENST00000367174.2_5'UTR|TIAM2_ENST00000456144.1_Missense_Mutation_p.K157N|TIAM2_ENST00000360366.4_Missense_Mutation_p.K157N|TIAM2_ENST00000529824.2_Missense_Mutation_p.K157N|TIAM2_ENST00000318981.5_Missense_Mutation_p.K157N Q8IVF5 TIAM2_HUMAN T-cell lymphoma invasion and metastasis 2 157 apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|filopodium|growth cone|lamellipodium receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4) 65 Ovarian(120;0.196) OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053) AAGACCGCAAGAGCCCCCGAG 0.572000 53 31 4.78724e-31 4.844e-31 1 1 0 PHF21A 51317 broad.mit.edu 37 11 45987125 45987125 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:45987125G>A ENST00000257821.4 - 9 1360 c.737C>T c.(736-738)cCt>cTt p.P246L PHF21A_ENST00000418153.2_Missense_Mutation_p.P245L|PHF21A_ENST00000323180.6_Missense_Mutation_p.P246L NM_001101802.1 NP_001095272.1 Q96BD5 PF21A_HUMAN PHD finger protein 21A 245 blood coagulation|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|transcription, DNA-dependent histone deacetylase complex DNA binding|zinc ion binding central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(10)|lung(9)|skin(2)|upper_aerodigestive_tract(2) 29 TGGGGCAATAGGAATGTTATT 0.498000 OREG0020936 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 16 26 0 0 1 0 0 MUC4 4585 broad.mit.edu 37 3 195517752 195517752 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:195517752C>T ENST00000463781.3 - 2 1158 c.699G>A c.(697-699)ggG>ggA p.G233G MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Silent_p.G233G|MUC4_ENST00000346145.4_Intron NM_018406.6 NP_060876.5 Q99102 MUC4_HUMAN mucin 4, cell surface associated 238 cell-matrix adhesion integral to plasma membrane|proteinaceous extracellular matrix ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;2.37e-05) GAGAAACAGTCCCTGTCACAT 0.473000 17 194 0 0 1 0 0 NBEAL1 65065 broad.mit.edu 37 2 204045175 204045175 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:204045175G>A ENST00000449802.1 + 42 6781 c.6448G>A c.(6448-6450)Gat>Aat p.D2150N NM_001114132.1 NP_001107604.1 Q6ZS30 NBEL1_HUMAN neurobeachin-like 1 2150 BEACH. binding NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 37 TAATCCATATGATGTTAAAGA 0.348000 36 80 0 0 1 0 0 AP3B2 8120 broad.mit.edu 37 15 83330671 83330671 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr15:83330671G>A ENST00000261722.3 - 24 3072 c.2865C>T c.(2863-2865)acC>acT p.T955T AP3B2_ENST00000535348.1_Silent_p.T923T|RP11-752G15.3_ENST00000560650.1_RNA|AP3B2_ENST00000535359.1_Silent_p.T974T NM_004644.3 NP_004635.2 Q13367 AP3B2_HUMAN adaptor-related protein complex 3, beta 2 subunit 955 endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport clathrin coated vesicle membrane|COPI-coated vesicle|membrane coat binding|protein transporter activity breast(4)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(2) 41 BRCA - Breast invasive adenocarcinoma(143;0.229) GTCGGGTCTGGGTGCTGGGAG 0.537000 14 25 0 0 1 0 0 HLA-G 3135 broad.mit.edu 37 6 29796412 29796412 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:29796412G>A ENST00000428701.1 + 4 614 c.436G>A c.(436-438)Gat>Aat p.D146N HLA-G_ENST00000376815.3_Intron|HLA-G_ENST00000360323.6_Missense_Mutation_p.D146N|HLA-G_ENST00000376828.2_Missense_Mutation_p.D151N|HLA-G_ENST00000376818.3_Intron NM_002127.5 NP_002118.1 P17693 HLAG_HUMAN major histocompatibility complex, class I, G 146 Alpha-2. antigen processing and presentation of peptide antigen via MHC class I|cellular defense response|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway integral to membrane|MHC class I protein complex MHC class I receptor activity central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(4)|ovary(3)|pancreas(1)|prostate(5)|skin(1) 21 CGATGGCAAGGATTACCTCGC 0.627000 8 278 0 0 1 0 0 DNAH17 8632 broad.mit.edu 37 17 76492080 76492080 + Missense_Mutation SNP T T G TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:76492080T>G ENST00000389840.5 - 38 5862 c.5738A>C c.(5737-5739)aAa>aCa p.K1913T RP11-559N14.5_ENST00000591373.1_RNA|DNAH17_ENST00000585328.1_Missense_Mutation_p.K1922T dynein, axonemal, heavy chain 17 NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 116 BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656) GAATGCTTTTTTCTTGGCCCG 0.532000 17 82 0 0 1 0 0 IL7R 3575 broad.mit.edu 37 5 35876381 35876381 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:35876381G>A ENST00000303115.3 + 8 1302 c.1173G>A c.(1171-1173)agG>agA p.R391R IL7R_ENST00000343305.4_3'UTR NM_002185.3 NP_002176.2 P16871 IL7RA_HUMAN interleukin 7 receptor 391 immune response|regulation of DNA recombination extracellular region|integral to membrane antigen binding|interleukin-7 receptor activity NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3) 126 all_lung(31;0.00015) Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202) TAGACTGCAGGGAGAGTGGCA 0.537000 """Mis, O""" """ALL, ETP ALL""" Severe combined immune deficiency 39 82 0 0 1 0 0 APTX 54840 broad.mit.edu 37 9 32984667 32984667 + Silent SNP G G A rs146721073 TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:32984667G>A ENST00000379817.2 - 5 928 c.732C>T c.(730-732)ctC>ctT p.L244L APTX_ENST00000436040.2_Intron|APTX_ENST00000309615.3_Silent_p.L258L|APTX_ENST00000397172.3_Silent_p.L186L|APTX_ENST00000463596.1_Silent_p.L244L|APTX_ENST00000379825.2_Silent_p.L258L|APTX_ENST00000468275.1_Silent_p.L244L|APTX_ENST00000379813.3_Silent_p.L244L|APTX_ENST00000379819.1_Silent_p.L258L|APTX_ENST00000476858.1_Silent_p.L204L Q7Z2E3 APTX_HUMAN aprataxin 258 HIT. cell death|double-strand break repair|regulation of protein stability|response to hydrogen peroxide|single strand break repair chromatin|nucleolus|nucleoplasm chromatin binding|damaged DNA binding|DNA 5'-adenosine monophosphate hydrolase activity|double-stranded DNA binding|double-stranded RNA binding|phosphoglycolate phosphatase activity|phosphoprotein binding|polynucleotide 3'-phosphatase activity|protein N-terminus binding|zinc ion binding endometrium(1)|lung(1)|ovary(2)|prostate(2) 6 LUSC - Lung squamous cell carcinoma(29;0.0302) GBM - Glioblastoma multiforme(74;0.105) ATCGGAAGCGGAGTTTGCTGG 0.542000 Editing and processing nucleases 48 112 0 0 1 0 0 KSR2 283455 broad.mit.edu 37 12 117962858 117962858 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:117962858C>T ENST00000425217.1 - 14 1985 c.1931G>A c.(1930-1932)gGa>gAa p.G644E KSR2_ENST00000339824.5_Missense_Mutation_p.G673E|KSR2_ENST00000302438.5_Missense_Mutation_p.G370E|KSR2_ENST00000545002.1_5'UTR NM_173598.4 NP_775869.3 Q6VAB6 KSR2_HUMAN kinase suppressor of ras 2 673 intracellular signal transduction cytoplasm|membrane ATP binding|metal ion binding|protein serine/threonine kinase activity NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 67 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) GCGGCCCTTTCCAATGAGCTC 0.622000 24 46 0 0 1 0 0 OR2A14 135941 broad.mit.edu 37 7 143826993 143826993 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:143826993C>T ENST00000408899.2 + 1 843 c.788C>T c.(787-789)tCc>tTc p.S263F NM_001001659.1 NP_001001659.1 Q96R47 O2A14_HUMAN olfactory receptor, family 2, subfamily A, member 14 263 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(4)|lung(17)|skin(1) 22 Melanoma(164;0.0783) GCCCCCAAGTCCCGCCATCCT 0.552000 88 341 0 0 1 0 0 LAMA3 3909 broad.mit.edu 37 18 21390454 21390454 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr18:21390454C>T ENST00000313654.9 + 13 1969 c.1728C>T c.(1726-1728)ttC>ttT p.F576F LAMA3_ENST00000399516.3_Silent_p.F576F NM_198129.1 NP_937762.1 Q16787 LAMA3_HUMAN laminin, alpha 3 576 Domain V.|Laminin EGF-like 5. cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4) 128 all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) CTTATGATTTCCCCCACTGCC 0.562000 46 70 0 0 1 0 0 MAP3K3 4215 broad.mit.edu 37 17 61766199 61766199 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:61766199C>T ENST00000361357.3 + 11 1240 c.922C>T c.(922-924)Cgg>Tgg p.R308W MAP3K3_ENST00000579585.1_Missense_Mutation_p.R308W|MAP3K3_ENST00000577395.1_Missense_Mutation_p.R273W|MAP3K3_ENST00000577784.1_3'UTR|MAP3K3_ENST00000361733.3_Missense_Mutation_p.R277W|MAP3K3_ENST00000584573.1_Missense_Mutation_p.R304W NM_203351.1 NP_976226.1 Q99759 M3K3_HUMAN mitogen-activated protein kinase kinase kinase 3 277 MAPKKK cascade|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autophosphorylation cytosol ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding p.R277W(1) breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 28 AACCTACCCCCGGCGCTACCA 0.532000 45 151 0 0 1 0 0 SRP68 6730 broad.mit.edu 37 17 74036987 74036987 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:74036987G>A ENST00000307877.2 - 14 1758 c.1597C>T c.(1597-1599)Ctt>Ttt p.L533F SRP68_ENST00000539137.1_Missense_Mutation_p.L495F|SRP68_ENST00000542536.2_5'UTR|SRP68_ENST00000355113.5_Missense_Mutation_p.L432F|SRP68_ENST00000602720.1_Missense_Mutation_p.L194F NM_014230.3 NP_055045.2 Q9UHB9 SRP68_HUMAN signal recognition particle 68kDa 533 response to drug cytosol|endoplasmic reticulum|nucleolus|ribosome|signal recognition particle, endoplasmic reticulum targeting RNA binding|signal recognition particle binding NS(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|lung(4)|ovary(2)|prostate(3) 23 GGCTCACCAAGGATGGCTGCG 0.547000 77 69 0 0 1 0 0 TP53BP2 7159 broad.mit.edu 37 1 223986340 223986340 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:223986340G>A ENST00000391878.2 - 13 1906 c.1138C>T c.(1138-1140)Cct>Tct p.P380S TP53BP2_ENST00000391879.2_Intron|TP53BP2_ENST00000343537.7_Missense_Mutation_p.P509S|TP53BP2_ENST00000498843.1_5'UTR NM_005426.2 NP_005417.1 Q13625 ASPP2_HUMAN tumor protein p53 binding protein, 2 503 apoptosis|cell cycle|induction of apoptosis|negative regulation of cell cycle|signal transduction nucleus|perinuclear region of cytoplasm NF-kappaB binding|protein binding|SH3 domain binding|SH3/SH2 adaptor activity NS(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(2) 29 GBM - Glioblastoma multiforme(131;0.0958) GGTTTTGTAGGAACAGGAGGT 0.373000 62 81 0 0 1 0 0 HIPK2 28996 broad.mit.edu 37 7 139316467 139316467 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:139316467G>A ENST00000406875.3 - 3 1202 c.1108C>T c.(1108-1110)Cct>Tct p.P370S HIPK2_ENST00000428878.2_Missense_Mutation_p.P370S|HIPK2_ENST00000342645.6_Missense_Mutation_p.P370S NM_022740.4 NP_073577.3 Q9H2X6 HIPK2_HUMAN homeodomain interacting protein kinase 2 370 Interaction with DAXX.|Protein kinase. apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|negative regulation of BMP signaling pathway|positive regulation of JNK cascade|positive regulation of transforming growth factor beta receptor signaling pathway|SMAD protein signal transduction|transcription, DNA-dependent|virus-host interaction centrosome|nuclear membrane|PML body ATP binding|protein serine/threonine kinase activity|SMAD binding|transcription corepressor activity|virion binding breast(4)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 Melanoma(164;0.205) ATGATCTCAGGGGCCCTGAAA 0.443000 8 42 0 0 1 0 0 CHKA 1119 broad.mit.edu 37 11 67833919 67833919 + Silent SNP G G A rs80257081 TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:67833919G>A ENST00000265689.4 - 8 1019 c.993C>T c.(991-993)ttC>ttT p.F331F CHKA_ENST00000356135.5_Silent_p.F313F NM_001277.2 NP_001268.2 P35790 CHKA_HUMAN choline kinase alpha 331 lipid transport|phosphatidylethanolamine biosynthetic process cytoplasm ATP binding|choline kinase activity|drug binding|ethanolamine kinase activity|signal transducer activity central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1) 13 Choline(DB00122) TGCTGTATTCGAAATCAATGA 0.343000 47 109 0 0 1 0 0 DDI1 414301 broad.mit.edu 37 11 103908193 103908193 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:103908193G>A ENST00000302259.3 + 1 886 c.643G>A c.(643-645)Gaa>Aaa p.E215K PDGFD_ENST00000302251.5_Intron|PDGFD_ENST00000393158.2_Intron NM_001001711.2 NP_001001711.1 Q8WTU0 DDI1_HUMAN DNA-damage inducible 1 homolog 1 (S. cerevisiae) 215 proteolysis aspartic-type endopeptidase activity central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(12)|liver(2)|lung(21)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 52 Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164) BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169) GGCCAAAATAGAAGAGGAAAT 0.493000 19 139 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179477782 179477782 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:179477782C>T ENST00000589042.1 - 265 49890 c.49666G>A c.(49666-49668)Gga>Aga p.G16556R TTN_ENST00000359218.5_Missense_Mutation_p.G7616R|TTN_ENST00000591111.1_Missense_Mutation_p.G14915R|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G13988R|TTN_ENST00000460472.2_Missense_Mutation_p.G7491R|TTN_ENST00000342175.6_Missense_Mutation_p.G7683R|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589907.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 14915 Fibronectin type-III 20. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GTTGGTTTTCCAGGGGGCCAT 0.363000 24 54 0 0 1 0 0 C3 718 broad.mit.edu 37 19 6694563 6694563 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:6694563C>T ENST00000245907.6 - 24 3125 c.3033G>A c.(3031-3033)ggG>ggA p.G1011G NM_000064.2 NP_000055.2 P01024 CO3_HUMAN complement component 3 1011 complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production extracellular space endopeptidase inhibitor activity|receptor binding breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3) 72 GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661) TGTTCTGTTCCCCGCAGCCCG 0.622000 52 81 0 0 1 0 0 FAM126A 84668 broad.mit.edu 37 7 23015906 23015906 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:23015906G>A ENST00000432176.2 - 7 781 c.549C>T c.(547-549)ttC>ttT p.F183F FAM126A_ENST00000409923.1_Silent_p.F183F NM_032581.3 NP_115970.2 Q9BYI3 HYCCI_HUMAN family with sequence similarity 126, member A 183 cytoplasm|membrane signal transducer activity breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|urinary_tract(2) 23 ACAACAAAAGGAATGTCAACA 0.353000 32 59 0 0 1 0 0 SEC61A2 55176 broad.mit.edu 37 10 12198941 12198941 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:12198941C>T ENST00000379033.3 + 7 733 c.586C>T c.(586-588)Cat>Tat p.H196Y SEC61A2_ENST00000304267.8_Missense_Mutation_p.H218Y|SEC61A2_ENST00000379020.4_Missense_Mutation_p.H218Y|SEC61A2_ENST00000298428.9_Missense_Mutation_p.H218Y|SEC61A2_ENST00000495368.1_3'UTR NM_001142628.1 NP_001136100.1 Q9H9S3 S61A2_HUMAN Sec61 alpha 2 subunit (S. cerevisiae) 218 endoplasmic reticulum membrane|integral to membrane P-P-bond-hydrolysis-driven protein transmembrane transporter activity cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 14 Renal(717;0.228) AGCTCTGTTCCATTTGTTGGC 0.468000 33 92 0 0 1 0 0 ZNF208 7757 broad.mit.edu 37 19 22156113 22156113 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:22156113G>A ENST00000397126.4 - 4 1871 c.1723C>T c.(1723-1725)Cat>Tat p.H575Y ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron NM_007153.3 NP_009084.2 zinc finger protein 208 breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 113 all_lung(12;0.0961)|Lung NSC(12;0.103) TCTACAGTATGAATTTTCTTA 0.348000 19 56 0 0 1 0 0 UNC13A 23025 broad.mit.edu 37 19 17743631 17743631 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:17743631C>T ENST00000428389.2 - 29 3651 c.3652G>A c.(3652-3654)Gaa>Aaa p.E1218K UNC13A_ENST00000552293.1_Missense_Mutation_p.E1130K|UNC13A_ENST00000550896.1_Missense_Mutation_p.E1128K|UNC13A_ENST00000551649.1_Missense_Mutation_p.E1130K|UNC13A_ENST00000519716.2_Missense_Mutation_p.E1130K|UNC13A_ENST00000252773.7_Missense_Mutation_p.E1130K Q9UPW8 UN13A_HUMAN unc-13 homolog A (C. elegans) 1130 MHD1. exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2) 61 GCGGGAAGTTCCGTCACATAC 0.552000 40 71 0 0 1 0 0 ZNF93 81931 broad.mit.edu 37 19 20045187 20045187 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:20045187C>T ENST00000343769.5 + 4 1451 c.1423C>T c.(1423-1425)Cat>Tat p.H475Y AC007204.2_ENST00000592245.1_lincRNA NM_031218.3 NP_112495.2 P35789 ZNF93_HUMAN zinc finger protein 93 475 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(6)|kidney(2)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1) 24 TAAGAAAATTCATACTGGAGA 0.368000 28 90 0 0 1 0 0 IKZF1 10320 broad.mit.edu 37 7 50467669 50467669 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:50467669G>A ENST00000331340.3 + 8 1059 c.904G>A c.(904-906)Gag>Aag p.E302K IKZF1_ENST00000438033.1_Missense_Mutation_p.E215K|IKZF1_ENST00000349824.4_Missense_Mutation_p.E159K|IKZF1_ENST00000343574.5_Missense_Mutation_p.E215K|IKZF1_ENST00000357364.4_Missense_Mutation_p.E215K|IKZF1_ENST00000346667.4_Missense_Mutation_p.E72K|IKZF1_ENST00000440768.2_3'UTR|IKZF1_ENST00000359197.5_Missense_Mutation_p.E260K|IKZF1_ENST00000439701.1_Missense_Mutation_p.E260K NM_001220769.1|NM_001220772.1|NM_001220773.1|NM_001220775.1|NM_006060.4 NP_001207698.1|NP_001207701.1|NP_001207702.1|NP_001207704.1|NP_006051.1 Q13422 IKZF1_HUMAN IKAROS family zinc finger 1 (Ikaros) 302 cell cycle|chromatin modification|mesoderm development cytoplasm|nucleus zinc ion binding p.?(28) haematopoietic_and_lymphoid_tissue(275)|lung(1) 276 Glioma(55;0.08)|all_neural(89;0.245) Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07) CTACGAGAAGGAGAACGAAAT 0.642000 """D,T""" BCL6 """ALL, DLBCL""" 8 16 0 0 1 0 0 CROT 54677 broad.mit.edu 37 7 87027869 87027869 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:87027869C>T ENST00000331536.3 + 18 1933 c.1748C>T c.(1747-1749)tCc>tTc p.S583F CROT_ENST00000419147.2_Missense_Mutation_p.S611F NM_021151.3 NP_066974.2 Q9UKG9 OCTC_HUMAN carnitine O-octanoyltransferase 583 fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy|transport peroxisomal matrix carnitine O-octanoyltransferase activity p.S583F(1) NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 37 Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203) L-Carnitine(DB00583) GCCTGGAAATCCTGTCCCGAG 0.403000 43 128 0 0 1 0 0 MGAM 8972 broad.mit.edu 37 7 141734530 141734530 + Silent SNP G G T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:141734530G>T ENST00000475668.2 + 16 1902 c.1848G>T c.(1846-1848)gcG>gcT p.A616A MGAM_ENST00000549489.2_Silent_p.A616A O43451 MGA_HUMAN maltase-glucoamylase (alpha-glucosidase) 616 Maltase. polysaccharide digestion|starch catabolic process apical plasma membrane|integral to membrane carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity p.A616A(6) cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2) 13 Melanoma(164;0.0272) Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878) CTACCTTTGCGGGCTCTGGCA 0.498000 35 71 1.06647e-15 1.07551e-15 1 1 0 RASSF8 11228 broad.mit.edu 37 12 26217503 26217503 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:26217503C>T ENST00000405154.2 + 3 375 c.176C>T c.(175-177)cCt>cTt p.P59L RASSF8_ENST00000282884.9_Missense_Mutation_p.P59L|RASSF8_ENST00000542865.1_Missense_Mutation_p.P59L|RASSF8_ENST00000541490.1_Missense_Mutation_p.P59L|RASSF8_ENST00000381352.3_Missense_Mutation_p.P59L NM_001164748.1 NP_001158220.1 Q8NHQ8 RASF8_HUMAN Ras association (RalGDS/AF-6) domain family (N-terminal) member 8 59 Ras-associating. signal transduction cervix(2)|endometrium(1)|large_intestine(6)|lung(15)|urinary_tract(1) 25 Colorectal(261;0.0847) CATGAAAATCCTATCATATCC 0.433000 8 178 0 0 1 0 0 AHNAK 79026 broad.mit.edu 37 11 62290135 62290135 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:62290135G>A ENST00000378024.4 - 5 12028 c.11754C>T c.(11752-11754)gcC>gcT p.A3918A AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron NM_001620.1 NP_001611.1 Q09666 AHNK_HUMAN AHNAK nucleoprotein 3918 nervous system development nucleus protein binding NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 268 Melanoma(852;0.155) CCACATCTGGGGCATTAATAT 0.478000 156 337 0 0 1 0 0 NCOA6 23054 broad.mit.edu 37 20 33330180 33330180 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr20:33330180G>A ENST00000374796.2 - 12 6450 c.3880C>T c.(3880-3882)Cct>Tct p.P1294S NCOA6_ENST00000359003.2_Missense_Mutation_p.P1294S Q14686 NCOA6_HUMAN nuclear receptor coactivator 6 1294 NCOA1-binding region. brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter transcription factor complex chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1) 107 AAATTGGAAGGATTCATGGTA 0.433000 45 105 0 0 1 0 0 C6 729 broad.mit.edu 37 5 41176678 41176678 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:41176678C>T ENST00000263413.3 - 8 1331 c.1067G>A c.(1066-1068)cGa>cAa p.R356Q C6_ENST00000475349.1_5'UTR|C6_ENST00000337836.5_Missense_Mutation_p.R356Q NM_001115131.1 NP_001108603.2 P13671 CO6_HUMAN complement component 6 356 MACPF. complement activation, classical pathway|cytolysis|innate immune response membrane attack complex protein binding central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2) 96 Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157) ATCGAATATTCGGCTGTACAA 0.423000 30 115 0 0 1 0 0 HMG20B 10362 broad.mit.edu 37 19 3573720 3573720 + Missense_Mutation SNP T T A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:3573720T>A ENST00000333651.6 + 3 144 c.69T>A c.(67-69)caT>caA p.H23Q HMG20B_ENST00000585741.1_3'UTR|MFSD12_ENST00000591878.1_5'UTR NM_006339.2 NP_006330.2 Q9P0W2 HM20B_HUMAN high mobility group 20B 23 blood coagulation|cell cycle|chromatin modification chromosome|nucleoplasm DNA binding|sequence-specific DNA binding transcription factor activity cervix(1) 1 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0025)|STAD - Stomach adenocarcinoma(1328;0.18) CGGGCCAGCATGGGGGCTTCG 0.701000 6 20 0 0 1 0 0 ESR1 2099 broad.mit.edu 37 6 152332867 152332867 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:152332867C>T ENST00000440973.1 + 7 1543 c.1173C>T c.(1171-1173)ctC>ctT p.L391L ESR1_ENST00000443427.1_Silent_p.L391L|ESR1_ENST00000544394.1_Silent_p.L218L|ESR1_ENST00000338799.5_Silent_p.L391L|ESR1_ENST00000456483.2_Silent_p.L279L|ESR1_ENST00000406599.1_Intron|ESR1_ENST00000206249.3_Silent_p.L391L NM_001122742.1 NP_001116214.1 P03372 ESR1_HUMAN estrogen receptor 1 391 Interaction with AKAP13.|Steroid-binding. positive regulation of retinoic acid receptor signaling pathway|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to estradiol stimulus chromatin remodeling complex|cytoplasm|nucleoplasm beta-catenin binding|enzyme binding|estrogen receptor activity|estrogen response element binding|nitric-oxide synthase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(19)|ovary(1)|prostate(2)|skin(1) 49 Ovarian(120;0.0448) BRCA - Breast invasive adenocarcinoma(37;0.0841) OV - Ovarian serous cystadenocarcinoma(155;4.55e-10) Chlorotrianisene(DB00269)|Clomifene(DB00882)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Desogestrel(DB00304)|Dienestrol(DB00890)|Diethylstilbestrol(DB00255)|Dromostanolone(DB00858)|Drospirenone(DB01395)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Fluoxymesterone(DB01185)|Fulvestrant(DB00947)|Letrozole(DB01006)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Melatonin(DB01065)|Mestranol(DB01357)|Naloxone(DB01183)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)|Quinestrol(DB04575)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Toremifene(DB00539) TGATTGGTCTCGTCTGGCGCT 0.498000 50 122 0 0 1 0 0 BAGE2 85319 broad.mit.edu 37 21 11047480 11047480 + RNA SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr21:11047480C>T ENST00000470054.1 - 0 774 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) AAACAACTTACTTTGCATTTC 0.328000 20 436 0 0 1 0 0 ZNF90 7643 broad.mit.edu 37 19 20228649 20228649 + Nonsense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:20228649C>T ENST00000418063.2 + 4 398 c.286C>T c.(286-288)Caa>Taa p.Q96* ZNF90_ENST00000474284.1_Intron NM_007138.1 NP_009069.1 Q03938 ZNF90_HUMAN zinc finger protein 90 96 Golgi apparatus|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|lung(2)|ovary(1)|skin(1) 5 AGATTCCTTCCAAAAAGTGAT 0.348000 7 26 0 0 1 0 0 RHAG 6005 broad.mit.edu 37 6 49585792 49585792 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:49585792C>T ENST00000371175.4 - 3 507 c.481G>A c.(481-483)Gaa>Aaa p.E161K RHAG_ENST00000229810.7_Missense_Mutation_p.E161K NM_000324.2 NP_000315.2 Q02094 RHAG_HUMAN Rh-associated glycoprotein 161 carbon dioxide transport|cellular ion homeostasis integral to plasma membrane ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 39 Lung NSC(77;0.0255) TTAAATATTTCACTAACCAGG 0.383000 18 50 0 0 1 0 0 DLG2 1740 broad.mit.edu 37 11 83177832 83177832 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:83177832C>T ENST00000398309.2 - 21 2803 c.2333G>A c.(2332-2334)gGa>gAa p.G778E DLG2_ENST00000280241.8_Missense_Mutation_p.G817E|DLG2_ENST00000418306.2_Missense_Mutation_p.G657E|DLG2_ENST00000543673.1_Missense_Mutation_p.G883E|DLG2_ENST00000531015.1_Missense_Mutation_p.G745E|DLG2_ENST00000426717.2_Missense_Mutation_p.G242E|DLG2_ENST00000537455.1_Missense_Mutation_p.G528E|DLG2_ENST00000404783.3_Missense_Mutation_p.G256E|DLG2_ENST00000524982.1_Missense_Mutation_p.G774E|DLG2_ENST00000330014.6_Missense_Mutation_p.G699E|DLG2_ENST00000376104.2_Missense_Mutation_p.G883E|DLG2_ENST00000376106.3_Missense_Mutation_p.G242E|DLG2_ENST00000532653.1_Missense_Mutation_p.G760E NM_001364.3 NP_001355.2 Q15700 DLG2_HUMAN discs, large homolog 2 (Drosophila) 778 Guanylate kinase-like. cell junction|postsynaptic density|postsynaptic membrane guanylate kinase activity|protein binding breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 71 all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036) GATAGCATTTCCTGATACATC 0.403000 26 84 0 0 1 0 0 ZNF485 220992 broad.mit.edu 37 10 44104712 44104712 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:44104712C>T ENST00000361807.3 + 4 355 c.161C>T c.(160-162)tCt>tTt p.S54F ZNF485_ENST00000374435.3_Missense_Mutation_p.S54F|ZNF485_ENST00000374437.2_Intron NM_145312.3 NP_660355.2 Q8NCK3 ZN485_HUMAN zinc finger protein 485 54 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1) 16 GGGCTTCTCTCTTCCAAACCA 0.473000 5 50 0 0 1 0 0 DNAH2 146754 broad.mit.edu 37 17 7701961 7701961 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:7701961C>T ENST00000572933.1 + 55 9944 c.8484C>T c.(8482-8484)tcC>tcT p.S2828S DNAH2_ENST00000389173.2_Silent_p.S2828S Q9P225 DYH2_HUMAN dynein, axonemal, heavy chain 2 2828 AAA 4 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1) 189 all_cancers(10;4.66e-07)|Prostate(122;0.081) CTGATGAGTCCTTCCTAGAGG 0.527000 33 84 0 0 1 0 0 ATAD5 79915 broad.mit.edu 37 17 29161167 29161167 + Splice_Site SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:29161167C>T ENST00000321990.4 + 2 446 c.66_splice c.e2-1 p.P23_splice NM_024857.3 NP_079133.3 Q96QE3 ATAD5_HUMAN ATPase family, AAA domain containing 5 23 response to DNA damage stimulus nucleus ATP binding|nucleoside-triphosphatase activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1) 51 all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393) AATTGCCAGCCATGCAAAAAG 0.303000 44 81 0 0 1 0 0 PCP2 126006 broad.mit.edu 37 19 7696656 7696656 + Silent SNP T T C TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:7696656T>C ENST00000311069.5 - 4 620 c.330A>G c.(328-330)caA>caG p.Q110Q CTD-3214H19.4_ENST00000595866.1_Intron|PET100_ENST00000594797.1_3'UTR|PCP2_ENST00000598935.1_Silent_p.Q94Q NM_174895.1 NP_777555.1 Q8IVA1 PCP2_HUMAN Purkinje cell protein 2 110 signal transduction GTPase activator activity endometrium(1)|urinary_tract(1) 2 TGAGCAGGGGTTGGGGACTGA 0.692000 11 55 0 0 1 0 0 KRT80 144501 broad.mit.edu 37 12 52585421 52585421 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:52585421G>A ENST00000313234.5 - 1 363 c.266C>T c.(265-267)gCc>gTc p.A89V KRT80_ENST00000394815.2_Missense_Mutation_p.A89V NM_001081492.1 NP_001074961.1 Q6KB66 K2C80_HUMAN keratin 80 89 Coil 1A.|Rod. keratin filament structural molecule activity endometrium(2)|large_intestine(2)|lung(1) 5 BRCA - Breast invasive adenocarcinoma(357;0.108) ATCATTGAGGGCCTTCATCTC 0.572000 36 126 0 0 1 0 0 DLEC1 9940 broad.mit.edu 37 3 38129841 38129841 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:38129841G>A ENST00000308059.6 + 10 1648 c.1627G>A c.(1627-1629)Gtg>Atg p.V543M DLEC1_ENST00000452631.2_Missense_Mutation_p.V543M|DLEC1_ENST00000346219.3_Missense_Mutation_p.V543M Q9Y238 DLEC1_HUMAN deleted in lung and esophageal cancer 1 543 negative regulation of cell proliferation cytoplasm NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 51 KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827) CCTGCCTTCGGTGTTTGAGCT 0.453000 7 127 0 0 1 0 0 EFS 10278 broad.mit.edu 37 14 23828717 23828717 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr14:23828717G>A ENST00000216733.3 - 4 1577 c.970C>T c.(970-972)Cct>Tct p.P324S EFS_ENST00000429593.2_Missense_Mutation_p.P155S|EFS_ENST00000351354.3_Missense_Mutation_p.P231S NM_005864.2 NP_005855.1 O43281 EFS_HUMAN embryonal Fyn-associated substrate 324 Pro-rich. cell adhesion|intracellular signal transduction cytoplasm SH3 domain binding endometrium(2)|kidney(1)|large_intestine(1)|liver(1)|lung(5)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2) 16 all_cancers(95;7.12e-06) GBM - Glioblastoma multiforme(265;0.00649) CCTGGGGCAGGAGAGGGCACT 0.736000 14 42 0 0 1 0 0 ERBB4 2066 broad.mit.edu 37 2 212566827 212566827 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:212566827C>T ENST00000342788.4 - 12 1664 c.1354G>A c.(1354-1356)Gaa>Aaa p.E452K ERBB4_ENST00000436443.1_Missense_Mutation_p.E452K|ERBB4_ENST00000402597.1_Missense_Mutation_p.E452K NM_005235.2 NP_005226.1 Q15303 ERBB4_HUMAN v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4 452 cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway basolateral plasma membrane|cytoplasm|integral to membrane|nucleus ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity p.E452K(2) NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 179 Renal(323;0.06)|Lung NSC(271;0.197) UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266) GCGCTGATTTCCTTCAGGGAC 0.448000 TSP Lung(8;0.080) 48 98 0 0 1 0 0 AXDND1 126859 broad.mit.edu 37 1 179494559 179494559 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:179494559G>A ENST00000367618.3 + 22 2974 c.2587G>A c.(2587-2589)Gaa>Aaa p.E863K NM_144696.4 NP_653297.3 Q5T1B0 AXDN1_HUMAN axonemal dynein light chain domain containing 1 863 Glu-rich. NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2) 59 ACTTCAGGAGGAAAATAAAGA 0.343000 10 49 0 0 1 0 0 FPR3 2359 broad.mit.edu 37 19 52327782 52327782 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:52327782G>A ENST00000339223.4 + 2 960 c.781G>A c.(781-783)Ggc>Agc p.G261S FPR3_ENST00000595991.1_Missense_Mutation_p.G261S NM_002030.3 NP_002021.3 P25089 FPR3_HUMAN formyl peptide receptor 3 261 cellular component movement|chemotaxis integral to membrane|plasma membrane N-formyl peptide receptor activity NS(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(3) 35 TGAACTAATTGGCATTCTAAT 0.408000 30 87 0 0 1 0 0 ACAN 176 broad.mit.edu 37 15 89402550 89402550 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr15:89402550G>A ENST00000439576.2 + 12 7108 c.6734G>A c.(6733-6735)gGa>gAa p.G2245E ACAN_ENST00000561243.1_Missense_Mutation_p.G2245E|ACAN_ENST00000352105.7_Missense_Mutation_p.G2245E|ACAN_ENST00000559004.1_Missense_Mutation_p.G2245E NM_013227.3 NP_037359.3 E7EX88 E7EX88_HUMAN aggrecan 2245 cell adhesion hyaluronic acid binding|sugar binding NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 93 Lung NSC(78;0.0392)|all_lung(78;0.077) BRCA - Breast invasive adenocarcinoma(143;0.146) CTGTACTCAGGAGAAGAGACT 0.542000 12 20 0 0 1 0 0 AMPD1 270 broad.mit.edu 37 1 115229505 115229505 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:115229505G>A ENST00000369538.3 - 3 376 c.329C>T c.(328-330)aCt>aTt p.T110I AMPD1_ENST00000520113.2_Missense_Mutation_p.T114I|AMPD1_ENST00000353928.6_Missense_Mutation_p.T81I NM_001172626.1 NP_001166097.1 P23109 AMPD1_HUMAN adenosine monophosphate deaminase 1 81 purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage cytosol AMP deaminase activity|metal ion binding NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 45 all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211) all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) Adenosine monophosphate(DB00131) CAAATTAACAGTCTTCCGTCC 0.388000 30 85 0 0 1 0 0 UGT1A3 54659 broad.mit.edu 37 2 234638479 234638479 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:234638479C>T ENST00000482026.1 + 1 726 c.707C>T c.(706-708)tCt>tTt p.S236F UGT1A6_ENST00000480628.1_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A8_ENST00000373450.4_Intron|UGT1A4_ENST00000373409.3_Intron|UGT1A5_ENST00000373414.3_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A6_ENST00000305139.6_Intron NM_019093.2 NP_061966.1 breast(2)|endometrium(7)|kidney(18)|large_intestine(6)|lung(10)|ovary(1)|skin(1)|urinary_tract(1) 46 Breast(86;0.000765)|all_lung(227;0.00266)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0456)|Lung SC(224;0.128) Epithelial(121;2.4e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000476)|Lung(119;0.00243)|LUSC - Lung squamous cell carcinoma(224;0.00599) AGCCTTGCCTCTGAGCTTTTT 0.502000 118 210 0 0 1 0 0 TMEM151A 256472 broad.mit.edu 37 11 66062689 66062689 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:66062689C>T ENST00000327259.4 + 2 1116 c.972C>T c.(970-972)ccC>ccT p.P324P NM_153266.3 NP_694998.1 Q8N4L1 T151A_HUMAN transmembrane protein 151A 324 integral to membrane central_nervous_system(1)|kidney(4)|lung(6) 11 CCAGCTcgcccccgccggggg 0.716000 7 10 0 0 1 0 0 HOXC10 3226 broad.mit.edu 37 12 54379561 54379561 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:54379561C>T ENST00000303460.4 + 1 592 c.518C>T c.(517-519)cCt>cTt p.P173L NM_017409.3 NP_059105.2 Q9NYD6 HXC10_HUMAN homeobox C10 173 positive regulation of cell proliferation nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(2)|large_intestine(3)|lung(14)|pancreas(1) 20 TTCGAAGCCCCTTTCGAGCAG 0.652000 34 47 0 0 1 0 0 TRRAP 8295 broad.mit.edu 37 7 98509802 98509802 + Missense_Mutation SNP C C T rs147405090 TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:98509802C>T ENST00000359863.4 + 18 2374 c.2165C>T c.(2164-2166)tCc>tTc p.S722F TRRAP_ENST00000355540.3_Missense_Mutation_p.S722F|TRRAP_ENST00000446306.3_Missense_Mutation_p.S721F NM_001244580.1 NP_001231509.1 Q9Y4A5 TRRAP_HUMAN transformation/transcription domain-associated protein 722 histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity p.S722F(10) NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2) 176 all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274) STAD - Stomach adenocarcinoma(171;0.215) GGCTCTGTCTCCCTCTTTGCA 0.463000 42 182 0 0 1 0 0 UGT1A5 54579 broad.mit.edu 37 2 234621827 234621827 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:234621827G>A ENST00000373414.3 + 1 190 c.190G>A c.(190-192)Gag>Aag p.E64K UGT1A6_ENST00000480628.1_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A8_ENST00000373450.4_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A6_ENST00000305139.6_Intron NM_019078.1 NP_061951.1 cervix(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|urinary_tract(1) 22 Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128) Epithelial(121;4.51e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000523)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.00645) CCTCACCCTGGAGGTGAATAT 0.562000 38 60 0 0 1 0 0 FNDC3B 64778 broad.mit.edu 37 3 172013252 172013252 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:172013252G>A ENST00000336824.4 + 8 1048 c.949G>A c.(949-951)Gag>Aag p.E317K FNDC3B_ENST00000416957.1_Missense_Mutation_p.E317K|FNDC3B_ENST00000415807.2_Missense_Mutation_p.E317K NM_001135095.1 NP_001128567.1 Q53EP0 FND3B_HUMAN fibronectin type III domain containing 3B 317 Fibronectin type-III 1. endoplasmic reticulum|integral to membrane breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(26)|ovary(3)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1) 69 all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165) LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14) GBM - Glioblastoma multiforme(1;0.0494) CTACAGTTACGAGGTGGCCTT 0.433000 57 123 0 0 1 0 0 DYSF 8291 broad.mit.edu 37 2 71871148 71871148 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:71871148G>A ENST00000258104.3 + 41 4741 c.4464G>A c.(4462-4464)agG>agA p.R1488R DYSF_ENST00000409651.1_Silent_p.R1520R|DYSF_ENST00000479049.2_3'UTR|DYSF_ENST00000410041.1_Silent_p.R1506R|DYSF_ENST00000394120.2_Silent_p.R1489R|DYSF_ENST00000429174.2_Silent_p.R1509R|DYSF_ENST00000409366.1_Silent_p.R1510R|DYSF_ENST00000409744.1_Silent_p.R1496R|DYSF_ENST00000409582.3_Silent_p.R1526R|DYSF_ENST00000409762.1_Silent_p.R1505R|DYSF_ENST00000413539.2_Silent_p.R1519R|DYSF_ENST00000410020.3_Silent_p.R1527R NM_001130976.1|NM_003494.3 NP_001124448.1|NP_003485.1 O75923 DYSF_HUMAN dysferlin 1488 cytoplasmic vesicle membrane|integral to membrane|sarcolemma calcium-dependent phospholipid binding autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2) 111 TAGGGGAGAGGGAAAAGTGCG 0.517000 13 19 0 0 1 0 0 RGS3 5998 broad.mit.edu 37 9 116345774 116345774 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:116345774G>A ENST00000374140.2 + 21 2291 c.2082G>A c.(2080-2082)gaG>gaA p.E694E RGS3_ENST00000462143.1_Silent_p.E15E|RGS3_ENST00000343817.5_Silent_p.E413E|RGS3_ENST00000342620.5_Intron|RP11-168K11.2_ENST00000428429.1_RNA|RGS3_ENST00000374134.3_Silent_p.E15E|RGS3_ENST00000350696.5_Silent_p.E694E|RGS3_ENST00000394646.3_Intron NM_144488.4 NP_652759.3 P49796 RGS3_HUMAN regulator of G-protein signaling 3 694 inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway cytosol|nucleus|plasma membrane GTPase activator activity|signal transducer activity cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 48 TGGCCTTGGAGGAAGGGAAGG 0.557000 13 55 0 0 1 0 0 PSMB11 122706 broad.mit.edu 37 14 23511855 23511855 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr14:23511855G>A ENST00000408907.2 + 1 480 c.421G>A c.(421-423)Gga>Aga p.G141R NM_001099780.1 NP_001093250.1 A5LHX3 PSB11_HUMAN proteasome (prosome, macropain) subunit, beta type, 11 141 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction cytoplasm|nucleus|proteasome core complex threonine-type endopeptidase activity endometrium(1)|kidney(2)|lung(4) 7 all_cancers(95;3.3e-05) GBM - Glioblastoma multiforme(265;0.00643) TCAATACCGGGGACTGGATCT 0.627000 36 116 0 0 1 0 0 DCLK3 85443 broad.mit.edu 37 3 36779949 36779949 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:36779949C>T ENST00000416516.2 - 2 692 c.202G>A c.(202-204)Gga>Aga p.G68R NM_033403.1 NP_208382.1 Q9C098 DCLK3_HUMAN doublecortin-like kinase 3 68 cytoplasm|nucleus ATP binding|protein serine/threonine kinase activity breast(3)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 48 GCCTTGCATCCTGCAACTTCG 0.597000 77 152 0 0 1 0 0 KRT24 192666 broad.mit.edu 37 17 38857444 38857444 + Missense_Mutation SNP T T A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:38857444T>A ENST00000264651.2 - 3 859 c.803A>T c.(802-804)cAg>cTg p.Q268L NM_019016.2 NP_061889.2 Q2M2I5 K1C24_HUMAN keratin 24 268 Coil 1B.|Rod. cytoplasm|intermediate filament structural molecule activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 Breast(137;0.00526) ACTCTCAATCTGCATCTCCAG 0.507000 6 117 0 0 1 0 0 DNMT1 1786 broad.mit.edu 37 19 10250843 10250843 + Nonsense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:10250843G>A ENST00000340748.4 - 32 3872 c.3637C>T c.(3637-3639)Cag>Tag p.Q1213* DNMT1_ENST00000359526.4_Nonsense_Mutation_p.Q1229*|DNMT1_ENST00000540357.1_Nonsense_Mutation_p.Q1213*|DNMT1_ENST00000589538.1_Intron P26358 DNMT1_HUMAN DNA (cytosine-5-)-methyltransferase 1 1213 Catalytic.|Interaction with the PRC2/EED-EZH2 complex (By similarity). chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent nucleus DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1) 70 OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06) Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035) TCTCCCTTCTGGGGCAGCCGC 0.622000 56 108 0 0 1 0 0 FBXO40 51725 broad.mit.edu 37 3 121341701 121341701 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:121341701C>T ENST00000338040.4 + 3 1839 c.1425C>T c.(1423-1425)ttC>ttT p.F475F NM_016298.3 NP_057382.2 Q9UH90 FBX40_HUMAN F-box protein 40 475 muscle cell differentiation centrosome|nucleus ubiquitin-protein ligase activity|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(11)|lung(19)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 46 GBM - Glioblastoma multiforme(114;0.189) GCTCTGCCTTCACTTTCACTT 0.542000 19 41 0 0 1 0 0 CXorf22 170063 broad.mit.edu 37 X 35938099 35938099 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chrX:35938099G>A ENST00000297866.5 + 1 249 c.183G>A c.(181-183)ccG>ccA p.P61P NM_152632.3 NP_689845.2 Q6ZTR5 CX022_HUMAN chromosome X open reading frame 22 61 breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3) 44 ACCGCCTCCCGATTACTGTGC 0.577000 4 27 0 0 1 0 0 CAMSAP3 57662 broad.mit.edu 37 19 7677870 7677870 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:7677870G>A ENST00000446248.2 + 13 2673 c.2572G>A c.(2572-2574)Gag>Aag p.E858K CAMSAP3_ENST00000160298.4_Missense_Mutation_p.E831K NM_001080429.2 NP_001073898.1 Q9P1Y5 CAMP3_HUMAN calmodulin regulated spectrin-associated protein family, member 3 831 epithelial cell-cell adhesion|microtubule anchoring|regulation of microtubule cytoskeleton organization|zonula adherens maintenance cytoplasm|microtubule|zonula adherens microtubule minus-end binding cervix(1)|endometrium(7)|kidney(3)|lung(6)|urinary_tract(2) 19 CCTGGCGGAGGAGACGCCCCC 0.726000 3 17 0 0 1 0 0 SLC18A2 6571 broad.mit.edu 37 10 119029946 119029946 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:119029946G>A ENST00000298472.5 + 15 1555 c.1412G>A c.(1411-1413)cGa>cAa p.R471Q SLC18A2_ENST00000497497.1_3'UTR NM_003054.4 NP_003045.2 Q05940 VMAT2_HUMAN solute carrier family 18 (vesicular monoamine transporter), member 2 471 neurotransmitter secretion clathrin sculpted monoamine transport vesicle membrane|integral to plasma membrane|membrane fraction monoamine transmembrane transporter activity NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16) 29 Colorectal(252;0.19) all cancers(201;0.029) Alseroxylon(DB00386)|Reserpine(DB00206)|Tetrabenazine(DB04844) TTTTTTCTTCGAAGTCCACCT 0.393000 43 88 0 0 1 0 0 ASTN1 460 broad.mit.edu 37 1 177133588 177133588 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:177133588C>T ENST00000367654.2 - 1 238 c.225G>A c.(223-225)ccG>ccA p.P75P ASTN1_ENST00000367657.3_Silent_p.P75P|ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000361833.2_Silent_p.P75P|ASTN1_ENST00000424564.2_Silent_p.P75P O14525 ASTN1_HUMAN astrotactin 1 75 cell migration|neuron cell-cell adhesion integral to membrane NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3) 153 CCATTTCTCCCGGGAAGTCGT 0.667000 37 21 0 0 1 0 0 PTGIR 5739 broad.mit.edu 37 19 47124833 47124833 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:47124833G>A ENST00000291294.2 - 3 998 c.865C>T c.(865-867)Ccc>Tcc p.P289S PTGIR_ENST00000598865.1_Missense_Mutation_p.P77S|PTGIR_ENST00000594275.1_Missense_Mutation_p.P46S|PTGIR_ENST00000597185.1_Missense_Mutation_p.P18S NM_000960.3 NP_000951.1 P43119 PI2R_HUMAN prostaglandin I2 (prostacyclin) receptor (IP) 289 cell-cell signaling|G-protein signaling, coupled to cyclic nucleotide second messenger|platelet activation integral to plasma membrane G-protein coupled receptor activity|guanyl-nucleotide exchange factor activity endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 13 Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212) OV - Ovarian serous cystadenocarcinoma(262;0.000327)|all cancers(93;0.000641)|Epithelial(262;0.0174)|GBM - Glioblastoma multiforme(486;0.0331) Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Epoprostenol(DB01240)|Iloprost(DB01088)|Misoprostol(DB00929) AAGACCCAGGGGTCCAGGATG 0.627000 52 80 0 0 1 0 0 PLCH1 23007 broad.mit.edu 37 3 155314127 155314127 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:155314127C>T ENST00000460012.1 - 3 387 c.30G>A c.(28-30)atG>atA p.M10I PLCH1_ENST00000494598.1_Missense_Mutation_p.M28I|PLCH1_ENST00000414191.1_Missense_Mutation_p.M10I|PLCH1_ENST00000340059.7_Missense_Mutation_p.M28I|PLCH1_ENST00000334686.6_Missense_Mutation_p.M10I|PLCH1_ENST00000447496.2_Missense_Mutation_p.M28I Q4KWH8 PLCH1_HUMAN phospholipase C, eta 1 28 lipid catabolic process|phosphatidylinositol-mediated signaling membrane calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4) 107 Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114) TCAGCTTGATCATCTGTGTCC 0.507000 41 69 0 0 1 0 0 ZNF540 163255 broad.mit.edu 37 19 38103348 38103348 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:38103348G>A ENST00000592533.1 + 5 1499 c.1167G>A c.(1165-1167)ggG>ggA p.G389G ZNF540_ENST00000589117.1_Silent_p.G357G|ZNF540_ENST00000343599.5_Silent_p.G389G|ZNF540_ENST00000316433.4_Silent_p.G389G NM_152606.4 NP_689819.1 zinc finger protein 540 breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(13)|lung(8)|skin(1) 28 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) AGGAGTGTGGGAAATCATTTA 0.363000 48 91 0 0 1 0 0 DAOA 267012 broad.mit.edu 37 13 106124932 106124932 + Translation_Start_Site SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr13:106124932G>A ENST00000329625.5 + 0 244 DAOA_ENST00000375936.3_Missense_Mutation_p.G60E|DAOA-AS1_ENST00000448407.1_RNA P59103 DAOA_HUMAN D-amino acid oxidase activator Golgi apparatus endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|skin(1) 13 Lung NSC(43;0.01)|all_neural(89;0.0741)|Lung SC(71;0.14)|Medulloblastoma(90;0.169) AGGAAAGAAGGATGGAAGAGA 0.408000 7 44 0 0 1 0 0 DPYS 1807 broad.mit.edu 37 8 105405031 105405031 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:105405031C>T ENST00000351513.2 - 8 1556 c.1424G>A c.(1423-1425)cGa>cAa p.R475Q DPYS_ENST00000521601.1_Intron NM_001385.2 NP_001376.1 Q14117 DPYS_HUMAN dihydropyrimidinase 475 protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process cytosol dihydropyrimidinase activity|zinc ion binding NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229) CTGCTTTATTCGTTTGTAAAT 0.473000 121 221 0 0 1 0 0 TNS1 7145 broad.mit.edu 37 2 218713453 218713453 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:218713453G>A ENST00000171887.4 - 17 1864 c.1412C>T c.(1411-1413)tCg>tTg p.S471L TNS1_ENST00000480665.1_5'UTR|TNS1_ENST00000419504.1_Missense_Mutation_p.S471L|TNS1_ENST00000430930.1_Missense_Mutation_p.S471L NM_022648.4 NP_072174.3 Q9HBL0 TENS1_HUMAN tensin 1 471 cytoplasm|cytoskeleton|focal adhesion actin binding breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 79 Renal(207;0.0483)|Lung NSC(271;0.213) Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013) GGGCACAGCCGAGCCCCCTGC 0.632000 45 112 0 0 1 0 0 CAGE1 285782 broad.mit.edu 37 6 7378879 7378879 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:7378879G>A ENST00000502583.1 - 4 1222 c.658C>T c.(658-660)Cct>Tct p.P220S CAGE1_ENST00000509324.1_Intron|CAGE1_ENST00000379918.4_Missense_Mutation_p.P220S|CAGE1_ENST00000338150.4_Missense_Mutation_p.P220S|CAGE1_ENST00000296742.7_Missense_Mutation_p.P84S|CAGE1_ENST00000512086.1_Missense_Mutation_p.P220S NM_001170692.1 NP_001164163.1 Q8TC20 CAGE1_HUMAN cancer antigen 1 220 breast(1)|cervix(1)|endometrium(3)|kidney(2)|lung(11)|urinary_tract(1) 19 Ovarian(93;0.0418) GGTTGGCTAGGGTTGAGGGCA 0.408000 74 257 0 0 1 0 0 TBC1D21 161514 broad.mit.edu 37 15 74174086 74174086 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr15:74174086G>A ENST00000300504.2 + 3 353 c.270G>A c.(268-270)agG>agA p.R90R TBC1D21_ENST00000535547.2_Silent_p.R54R|TBC1D21_ENST00000562056.1_Silent_p.R90R NM_153356.1 NP_699187.1 Q8IYX1 TBC21_HUMAN TBC1 domain family, member 21 90 Rab-GAP TBC. intracellular Rab GTPase activator activity breast(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1) 17 ACAGCATGAGGAGGTAGAACA 0.607000 12 35 0 0 1 0 0 OR2T11 127077 broad.mit.edu 37 1 248789789 248789789 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:248789789G>A ENST00000330803.2 - 1 702 c.641C>T c.(640-642)tCc>tTc p.S214F NM_001001964.1 NP_001001964.1 Q8NH01 O2T11_HUMAN olfactory receptor, family 2, subfamily T, member 11 (gene/pseudogene) 214 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|large_intestine(5)|lung(20)|skin(2) 28 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) GAGGGAGTAGGAAGTGGAGAT 0.493000 72 43 0 0 1 0 0 GLYR1 84656 broad.mit.edu 37 16 4895076 4895076 + Splice_Site SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr16:4895076G>A ENST00000321919.9 - 3 230 c.155_splice c.e3+1 p.H52_splice GLYR1_ENST00000381983.3_Splice_Site_p.H52_splice|GLYR1_ENST00000591451.1_Splice_Site_p.H52_splice|GLYR1_ENST00000436648.5_Splice_Site_p.H52_splice NM_032569.3 NP_115958.2 Q49A26 GLYR1_HUMAN glyoxylate reductase 1 homolog (Arabidopsis) 52 PWWP. pentose-phosphate shunt nucleus coenzyme binding|DNA binding|methylated histone residue binding|phosphogluconate dehydrogenase (decarboxylating) activity endometrium(1)|kidney(1)|large_intestine(7)|lung(6)|prostate(2)|skin(1)|urinary_tract(1) 19 ACTACTCACTGATCTTCTGTT 0.418000 56 170 0 0 1 0 0 TVP23B 51030 broad.mit.edu 37 17 18702241 18702241 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:18702241C>T ENST00000476139.1 + 5 1671 c.255C>T c.(253-255)ttC>ttT p.F85F TVP23B_ENST00000574226.1_Silent_p.F149F|TVP23B_ENST00000581733.1_Silent_p.F85F|TVP23B_ENST00000307767.8_Silent_p.F149F trans-golgi network vesicle protein 23 homolog B (S. cerevisiae) TCTTCTCCTTCAGAGTAAAGT 0.388000 52 112 0 0 1 0 0 MST1L 11223 broad.mit.edu 37 1 17083833 17083833 + RNA SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:17083833C>T ENST00000455405.2 - 0 755 GATTCTAATTCCTTTCAGGAC 0.572000 3 35 0 0 1 0 0 SCN11A 11280 broad.mit.edu 37 3 38892219 38892219 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:38892219G>A ENST00000302328.3 - 25 4278 c.4080C>T c.(4078-4080)ttC>ttT p.F1360F SCN11A_ENST00000444237.2_Silent_p.F1360F|SCN11A_ENST00000456224.3_Silent_p.F1322F|SCN11A_ENST00000450244.1_Silent_p.F1360F NM_014139.2 NP_054858.2 Q9UI33 SCNBA_HUMAN sodium channel, voltage-gated, type XI, alpha subunit 1360 response to drug voltage-gated sodium channel complex voltage-gated sodium channel activity p.F1360F(1) NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3) 119 Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226) Cocaine(DB00907) TGACTATGTCGAACACGAGAC 0.313000 29 70 0 0 1 0 0 C22orf31 25770 broad.mit.edu 37 22 29455150 29455150 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr22:29455150C>T ENST00000216071.4 - 3 504 c.453G>A c.(451-453)gaG>gaA p.E151E NM_015370.1 NP_056185.1 O95567 CV031_HUMAN chromosome 22 open reading frame 31 151 cervix(1)|endometrium(1)|kidney(17)|large_intestine(2)|lung(4)|prostate(1)|skin(1) 27 TTAGTTTTTTCTCCTTTGAAC 0.478000 69 110 0 0 1 0 0 WISP1 8840 broad.mit.edu 37 8 134239716 134239716 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:134239716C>T ENST00000250160.6 + 5 973 c.867C>T c.(865-867)ggC>ggT p.G289G WISP1_ENST00000519433.1_Silent_p.G44G|WISP1_ENST00000220856.6_Silent_p.G202G|WISP1_ENST00000517423.1_Silent_p.L138L|WISP1_ENST00000377863.2_Silent_p.G117G NM_003882.3 NP_003873.1 O95388 WISP1_HUMAN WNT1 inducible signaling pathway protein 1 289 CTCK. cell adhesion|cell-cell signaling|regulation of cell growth|Wnt receptor signaling pathway extracellular region|soluble fraction insulin-like growth factor binding central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 21 all_epithelial(106;5.39e-23)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0107) CACTTGCGGGCTGCATCAGCA 0.522000 43 107 0 0 1 0 0 LIPC 3990 broad.mit.edu 37 15 58830561 58830561 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr15:58830561G>A ENST00000414170.3 + 3 405 c.118G>A c.(118-120)Gaa>Aaa p.E40K LIPC_ENST00000433326.2_Missense_Mutation_p.E40K|LIPC_ENST00000356113.6_Missense_Mutation_p.E40K|LIPC_ENST00000299022.5_Missense_Mutation_p.E40K P11150 LIPC_HUMAN lipase, hepatic 40 cholesterol homeostasis|chylomicron remnant clearance|fatty acid biosynthetic process|high-density lipoprotein particle remodeling|intermediate-density lipoprotein particle remodeling|low-density lipoprotein particle remodeling|phosphatidylcholine catabolic process|triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle remodeling high-density lipoprotein particle apolipoprotein binding|heparin binding|low-density lipoprotein particle binding|phospholipase activity|triglyceride lipase activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 Colorectal(260;0.215) GBM - Glioblastoma multiforme(80;0.00213)|all cancers(107;0.00548) TCAAGCTGTTGAAACAAACAA 0.468000 54 163 0 0 1 0 0 UNC93A 54346 broad.mit.edu 37 6 167705044 167705044 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:167705044G>A ENST00000230256.3 + 1 242 c.67G>A c.(67-69)Gga>Aga p.G23R UNC93A_ENST00000366830.2_3'UTR|UNC93A_ENST00000366829.2_Missense_Mutation_p.G23R NM_018974.3 NP_061847.2 Q86WB7 UN93A_HUMAN unc-93 homolog A (C. elegans) 23 integral to membrane|plasma membrane breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 40 Breast(66;7.62e-05)|Ovarian(120;0.105) OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492) TACAGCCTATGGAGGTCTGCA 0.463000 5 133 0 0 1 0 0 SLCO6A1 133482 broad.mit.edu 37 5 101735289 101735289 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:101735289G>A ENST00000506729.1 - 10 1955 c.1784C>T c.(1783-1785)tCt>tTt p.S595F SLCO6A1_ENST00000379807.3_Missense_Mutation_p.S595F|SLCO6A1_ENST00000389019.3_Missense_Mutation_p.S533F|SLCO6A1_ENST00000513675.1_Missense_Mutation_p.S342F|SLCO6A1_ENST00000379810.1_Missense_Mutation_p.S342F Q86UG4 SO6A1_HUMAN solute carrier organic anion transporter family, member 6A1 595 integral to membrane|plasma membrane transporter activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323) Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113) TGGTACACCAGAAAAACCAGA 0.308000 23 67 0 0 1 0 0 APLNR 187 broad.mit.edu 37 11 57004401 57004401 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:57004401G>A ENST00000606794.1 - 1 274 c.78C>T c.(76-78)tcC>tcT p.S26S NM_005161.4 NP_005152.1 P35414 APJ_HUMAN apelin receptor 26 integral to plasma membrane G-protein coupled receptor activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 32 GGGCCCCCGAGGATTTCCAGT 0.577000 55 138 0 0 1 0 0 RASGRP3 25780 broad.mit.edu 37 2 33783333 33783333 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:33783333G>A ENST00000403687.3 + 16 2375 c.1635G>A c.(1633-1635)agG>agA p.R545R RASGRP3_ENST00000407811.1_Silent_p.R544R|RASGRP3_ENST00000402538.3_Silent_p.R545R|AC020594.5_ENST00000437680.1_RNA NM_001139488.1 NP_001132960.1 Q8IV61 GRP3_HUMAN RAS guanyl releasing protein 3 (calcium and DAG-regulated) 545 MAPKKK cascade|small GTPase mediated signal transduction integral to plasma membrane|intracellular calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity|protein binding|Rap GTPase activator activity|signal transducer activity large_intestine(3)|lung(3)|ovary(2)|pancreas(1)|stomach(2) 11 all_hematologic(175;0.115) TGGCCTGCAGGAGATTTGCCC 0.552000 3 24 0 0 1 0 0 FOLH1B 219595 broad.mit.edu 37 11 89431793 89431793 + RNA SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:89431793G>A ENST00000532352.1 + 0 2075 Q9HBA9 FOH1B_HUMAN folate hydrolase 1B proteolysis cytoplasm dipeptidase activity|metal ion binding|metallopeptidase activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2) 48 ACTCTGTATTGAATTTGTGTG 0.328000 13 36 0 0 1 0 0 TG 7038 broad.mit.edu 37 8 133880386 133880386 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:133880386C>T ENST00000220616.4 + 2 134 c.94C>T c.(94-96)Cgt>Tgt p.R32C TG_ENST00000377869.1_Missense_Mutation_p.R32C NM_003235.4 NP_003226.4 P01266 THYG_HUMAN thyroglobulin 32 Thyroglobulin type-1 1. hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation extracellular space hormone activity NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8) 168 Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735) BRCA - Breast invasive adenocarcinoma(115;0.000701) KIRC - Kidney renal clear cell carcinoma(542;0.0546) CCAGCCCCTTCGTCCCTGTGA 0.547000 34 77 0 0 1 0 0 ERO1LB 56605 broad.mit.edu 37 1 236390021 236390021 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:236390021C>T ENST00000354619.5 - 11 932 c.731G>A c.(730-732)aGa>aAa p.R244K NM_019891.3 NP_063944.3 Q86YB8 ERO1B_HUMAN ERO1-like beta (S. cerevisiae) 244 electron transport chain|protein thiol-disulfide exchange|transport endoplasmic reticulum membrane flavin adenine dinucleotide binding|oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor|unfolded protein binding NS(1)|endometrium(3)|large_intestine(8)|lung(8)|skin(2)|urinary_tract(1) 23 Ovarian(103;0.0634)|Breast(184;0.247) all_cancers(173;0.123)|Acute lymphoblastic leukemia(190;0.205)|Prostate(94;0.219) OV - Ovarian serous cystadenocarcinoma(106;0.00162) ATAGAAGACTCTTTTCTCCAG 0.318000 5 167 0 0 1 0 0 PPARGC1A 10891 broad.mit.edu 37 4 23826113 23826113 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:23826113G>A ENST00000264867.2 - 6 895 c.776C>T c.(775-777)tCt>tTt p.S259F PPARGC1A_ENST00000509702.1_5'UTR NM_013261.3 NP_037393.1 Q9UBK2 PRGC1_HUMAN peroxisome proliferator-activated receptor gamma, coactivator 1 alpha 259 androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mitochondrion organization|mRNA processing|neuron death|positive regulation of fatty acid oxidation|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|RNA splicing|temperature homeostasis|transcription initiation from RNA polymerase II promoter DNA-directed RNA polymerase II, core complex androgen receptor binding|DNA binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|RNA binding|RNA polymerase II transcription cofactor activity|transcription factor binding central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5) 51 Breast(46;0.0503) CAGAGGAAGAGATAAAGTTGT 0.348000 111 207 0 0 1 0 0 NAT1 9 broad.mit.edu 37 8 18080227 18080227 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:18080227C>T ENST00000539092.1 + 5 1362 c.671C>T c.(670-672)tCc>tTc p.S224F NAT1_ENST00000545197.1_Missense_Mutation_p.S286F|NAT1_ENST00000535084.1_Missense_Mutation_p.S224F|NAT1_ENST00000517492.1_Missense_Mutation_p.S224F|NAT1_ENST00000520546.1_Missense_Mutation_p.S224F|NAT1_ENST00000541942.1_Missense_Mutation_p.S224F|NAT1_ENST00000517441.1_3'UTR|NAT1_ENST00000307719.4_Missense_Mutation_p.S224F|NAT1_ENST00000518029.1_Missense_Mutation_p.S224F NM_001160170.1|NM_001160172.1 NP_001153642.1|NP_001153644.1 P18440 ARY1_HUMAN N-acetyltransferase 1 (arylamine N-acetyltransferase) 224 xenobiotic metabolic process cytosol arylamine N-acetyltransferase activity NS(1)|breast(1)|endometrium(3)|kidney(1)|lung(2)|urinary_tract(1) 9 Colorectal(111;0.0519)|COAD - Colon adenocarcinoma(73;0.208) TCATTTTGTTCCTTGCAGACC 0.398000 41 59 0 0 1 0 0 PTPRC 5788 broad.mit.edu 37 1 198671603 198671603 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:198671603G>A ENST00000367376.2 + 6 692 c.521G>A c.(520-522)aGc>aAc p.S174N PTPRC_ENST00000391970.3_3'UTR|PTPRC_ENST00000442510.2_Missense_Mutation_p.S176N|PTPRC_ENST00000352140.3_Intron|PTPRC_ENST00000348564.6_Intron|PTPRC_ENST00000594404.1_Intron NM_002838.4 NP_002829.3 P08575 PTPRC_HUMAN protein tyrosine phosphatase, receptor type, C 174 axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway focal adhesion|integral to plasma membrane|membrane raft protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3) 111 GCACACCACAGCTCTGCTGCC 0.522000 124 339 0 0 1 0 0 EGF 1950 broad.mit.edu 37 4 110865168 110865168 + Missense_Mutation SNP T T C TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:110865168T>C ENST00000265171.5 + 4 1125 c.680T>C c.(679-681)cTt>cCt p.L227P EGF_ENST00000509793.1_Missense_Mutation_p.L227P|EGF_ENST00000503392.1_Missense_Mutation_p.L227P NM_001178130.1|NM_001963.4 NP_001171601.1|NP_001954.2 P01133 EGF_HUMAN epidermal growth factor 227 angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface integral to membrane|plasma membrane|platelet alpha granule lumen calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 50 Hepatocellular(203;0.0893) OV - Ovarian serous cystadenocarcinoma(123;9.87e-06) Sulindac(DB00605) AGCAATTCTCTTATTTGCTCC 0.373000 4 75 0 0 1 0 0 KCNK9 51305 broad.mit.edu 37 8 140630838 140630838 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:140630838G>A ENST00000520439.1 - 2 851 c.788C>T c.(787-789)tCc>tTc p.S263F KCNK9_ENST00000303015.1_Missense_Mutation_p.S263F Q9NPC2 KCNK9_HUMAN potassium channel, subfamily K, member 9 263 integral to membrane|membrane fraction potassium channel activity|voltage-gated ion channel activity NS(1)|endometrium(9)|kidney(1)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1) 43 all_cancers(97;3.94e-14)|all_epithelial(106;4.81e-13)|Lung NSC(106;8.18e-05)|all_lung(105;0.00015)|Ovarian(258;0.00235)|Acute lymphoblastic leukemia(118;0.155) Ovarian(118;0.134) BRCA - Breast invasive adenocarcinoma(115;0.0855) TCCGGCGAGGGATGCCCTCTC 0.637000 36 88 0 0 1 0 0 DNAH9 1770 broad.mit.edu 37 17 11833360 11833360 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:11833360C>T ENST00000262442.3 + 63 12123 c.12055C>T c.(12055-12057)Ccc>Tcc p.P4019S DNAH9_ENST00000396001.2_Missense_Mutation_p.P331S|DNAH9_ENST00000454412.2_Intron NM_001372.3 NP_001363.2 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 4019 AAA 6 (By similarity). cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4) 290 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) CAATGAGCCCCCCACGGGCAT 0.597000 13 53 0 0 1 0 0 HNF1B 6928 broad.mit.edu 37 17 36047338 36047338 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:36047338C>T ENST00000560016.1 - 8 1725 c.1592G>A c.(1591-1593)gGa>gAa p.G531E HNF1B_ENST00000225893.4_3'UTR|HNF1B_ENST00000427275.2_Missense_Mutation_p.G440E|HNF1B_ENST00000561193.1_3'UTR P35680 HNF1B_HUMAN HNF1 homeobox B 0 endocrine pancreas development|genitalia development|kidney development|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|pronephric nephron tubule development|regulation of pronephros size nucleus DNA binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(6)|kidney(3)|large_intestine(2)|liver(1)|lung(3)|ovary(3)|prostate(1)|skin(2) 28 Breast(25;0.00765)|Ovarian(249;0.15) STAD - Stomach adenocarcinoma(1;0.0142) AAAACAGGGTCCTTGTTGTTG 0.567000 24 75 0 0 1 0 0 HDAC4 9759 broad.mit.edu 37 2 240016696 240016696 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:240016696G>A ENST00000541256.1 - 15 2273 c.2197C>T c.(2197-2199)Cct>Tct p.P733S HDAC4_ENST00000543185.1_Intron|HDAC4_ENST00000345617.3_Intron P56524 HDAC4_HUMAN histone deacetylase 4 0 Histone deacetylase. B cell differentiation|cardiac muscle hypertrophy in response to stress|chromatin remodeling|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of glycolysis|negative regulation of myotube differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development|peptidyl-lysine deacetylation|positive regulation of cell proliferation|positive regulation of protein sumoylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|response to denervation involved in regulation of muscle adaptation|response to interleukin-1|transcription, DNA-dependent histone deacetylase complex|transcriptional repressor complex activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|potassium ion binding|repressing transcription factor binding|zinc ion binding NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(5) 62 all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159) Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04) CACATTAAAGGAACACTTACC 0.557000 9 192 0 0 1 0 0 CYP3A7 1551 broad.mit.edu 37 7 99315247 99315247 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:99315247C>T ENST00000336374.2 - 5 336 c.334G>A c.(334-336)Gga>Aga p.G112R NM_000765.3 NP_000756.2 P24462 CP3A7_HUMAN cytochrome P450, family 3, subfamily A, polypeptide 7 112 xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding autonomic_ganglia(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(4)|upper_aerodigestive_tract(1) 32 Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228) TTCATAAATCCCACTGGCCCG 0.428000 33 67 0 0 1 0 0 PRPF8 10594 broad.mit.edu 37 17 1565047 1565047 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:1565047G>A ENST00000572621.1 - 25 4325 c.4060C>T c.(4060-4062)Cgt>Tgt p.R1354C PRPF8_ENST00000304992.6_Missense_Mutation_p.R1354C Q6P2Q9 PRP8_HUMAN pre-mRNA processing factor 8 1354 catalytic step 2 spliceosome|nuclear speck|U5 snRNP protein binding|RNA binding NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3) 77 UCEC - Uterine corpus endometrioid carcinoma (25;0.0855) ATTCCTGAACGAAAGTGTGTG 0.448000 41 59 0 0 1 0 0 PRR12 57479 broad.mit.edu 37 19 50099984 50099984 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:50099984C>T ENST00000418929.2 + 4 2404 c.2392C>T c.(2392-2394)Ccc>Tcc p.P798S NM_020719.1 NP_065770.1 Q9ULL5 PRR12_HUMAN proline rich 12 489 DNA binding p.Q800fs*26(1) NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2) 11 all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887) OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132) GCCTCCGCCTCCCCCCCAGCT 0.721000 17 34 0 0 1 0 0 ALOX12B 242 broad.mit.edu 37 17 7979497 7979497 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:7979497C>T ENST00000319144.4 - 11 1788 c.1528G>A c.(1528-1530)Gag>Aag p.E510K ALOX12B_ENST00000577351.1_5'UTR NM_001139.2 NP_001130.1 O75342 LX12B_HUMAN arachidonate 12-lipoxygenase, 12R type 510 Lipoxygenase. epidermis development|leukotriene biosynthetic process arachidonate 12-lipoxygenase activity|iron ion binding|lipoxygenase activity endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|stomach(1) 16 GCTCACTTCTCCAGTGCATTC 0.572000 Multiple Myeloma(8;0.094) 26 86 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179425194 179425194 + Silent SNP C C G TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:179425194C>G ENST00000589042.1 - 326 85889 c.85665G>C c.(85663-85665)acG>acC p.T28555T TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Silent_p.T19615T|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Silent_p.T26914T|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Silent_p.T25987T|TTN_ENST00000460472.2_Silent_p.T19490T|TTN_ENST00000342175.6_Silent_p.T19682T|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 26914 Ig-like 132. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TTTCCAAAGACGTGGGTGGAC 0.393000 18 29 0 0 1 0 0 CIITA 4261 broad.mit.edu 37 16 11003023 11003023 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr16:11003023G>A ENST00000324288.8 + 12 2928 c.2795G>A c.(2794-2796)gGa>gAa p.G932E CIITA_ENST00000537380.1_Intron|CIITA_ENST00000381835.5_Missense_Mutation_p.G348E NM_000246.3 NP_000237.2 P33076 C2TA_HUMAN class II, major histocompatibility complex, transactivator 932 interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|response to antibiotic|transcription, DNA-dependent nucleus activating transcription factor binding|ATP binding|protein C-terminus binding|protein complex binding|transcription coactivator activity|transcription regulatory region DNA binding central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2) 12 GAAGACCTGGGAAAGCTTGTG 0.542000 T """FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6""" """PMBL, Hodgkin Lymphona, """ 25 74 0 0 1 0 0 DAND5 199699 broad.mit.edu 37 19 13084270 13084270 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:13084270C>T ENST00000317060.2 + 2 571 c.392C>T c.(391-393)tCt>tTt p.S131F DAND5_ENST00000585548.1_3'UTR NM_152654.2 NP_689867.1 Q8N907 DAND5_HUMAN DAN domain family member 5, BMP antagonist 131 CTCK. extracellular region kidney(2)|lung(3)|ovary(1) 6 OV - Ovarian serous cystadenocarcinoma(19;1.87e-18) CATTGCTCCTCTCTCTACATC 0.622000 52 114 0 0 1 0 0 SLC19A2 10560 broad.mit.edu 37 1 169446428 169446428 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:169446428G>A ENST00000236137.5 - 2 1008 c.772C>T c.(772-774)Cct>Tct p.P258S SLC19A2_ENST00000367804.3_Intron|SLC19A2_ENST00000367802.3_Intron NM_006996.2 NP_008927.1 O60779 S19A2_HUMAN solute carrier family 19 (thiamine transporter), member 2 258 thiamine-containing compound metabolic process integral to membrane|plasma membrane folic acid binding|folic acid transporter activity|reduced folate carrier activity|thiamine uptake transmembrane transporter activity breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|upper_aerodigestive_tract(1) 11 all_hematologic(923;0.208) ATATTTAGAGGGATTTTTGAC 0.483000 52 182 0 0 1 0 0 SFXN5 94097 broad.mit.edu 37 2 73198711 73198711 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:73198711G>A ENST00000272433.2 - 11 859 c.729C>T c.(727-729)atC>atT p.I243I SFXN5_ENST00000410065.1_Intron|SFXN5_ENST00000474528.1_5'UTR NM_144579.2 NP_653180.1 Q8TD22 SFXN5_HUMAN sideroflexin 5 243 iron ion homeostasis integral to membrane cation transmembrane transporter activity breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(2)|prostate(1) 9 GTCGGGCTGCGATCTTGGAGG 0.597000 23 36 0 0 1 0 0 OR2T3 343173 broad.mit.edu 37 1 248637188 248637188 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:248637188C>T ENST00000359594.2 + 1 562 c.537C>T c.(535-537)atC>atT p.I179I NM_001005495.1 NP_001005495.1 Q8NH03 OR2T3_HUMAN olfactory receptor, family 2, subfamily T, member 3 179 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|endometrium(5)|lung(19)|ovary(1)|prostate(1)|skin(3) 31 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) CTAGGAAAATCCTGAGTTTTT 0.522000 79 60 0 0 1 0 0 BEND7 222389 broad.mit.edu 37 10 13541750 13541750 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:13541750C>T ENST00000396898.2 - 3 475 c.476G>A c.(475-477)gGc>gAc p.G159D BEND7_ENST00000341083.3_Intron|BEND7_ENST00000396900.2_Intron|BEND7_ENST00000378605.3_Missense_Mutation_p.G107D Q8N7W2 BEND7_HUMAN BEN domain containing 7 150 protein binding breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(2)|ovary(2)|prostate(1)|stomach(1) 17 CCCATGAGAGCCTTCTGAATG 0.443000 33 92 0 0 1 0 0 SLCO1B3 28234 broad.mit.edu 37 12 21036450 21036450 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:21036450G>A ENST00000381545.3 + 13 1815 c.1596G>A c.(1594-1596)agG>agA p.R532R LST3_ENST00000381541.3_Intron|LST3_ENST00000540229.1_Silent_p.R532R|SLCO1B7_ENST00000554957.1_Intron|SLCO1B3_ENST00000553473.1_Silent_p.R532R|SLCO1B3_ENST00000261196.2_Silent_p.R532R NM_019844.3 NP_062818.1 Q9NPD5 SO1B3_HUMAN solute carrier organic anion transporter family, member 1B3 532 bile acid metabolic process|sodium-independent organic anion transport basolateral plasma membrane|cytoplasm|integral to plasma membrane bile acid transmembrane transporter activity|organic anion transmembrane transporter activity breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2) 63 Esophageal squamous(101;0.149) CTTGTACAAGGAAATTTTTCA 0.373000 35 74 0 0 1 0 0 ARHGEF12 23365 broad.mit.edu 37 11 120312876 120312876 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:120312876C>T ENST00000397843.2 + 15 1433 c.1267C>T c.(1267-1269)Ctt>Ttt p.L423F ARHGEF12_ENST00000356641.3_Missense_Mutation_p.L404F|ARHGEF12_ENST00000532993.1_Missense_Mutation_p.L320F NM_015313.2 NP_056128.1 Q9NZN5 ARHGC_HUMAN Rho guanine nucleotide exchange factor (GEF) 12 423 RGSL. apoptosis|axon guidance|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|membrane G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity NS(1)|breast(5)|endometrium(6)|kidney(5)|large_intestine(13)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(2) 61 Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231) TCGCATCTTCCTTGAGTTTCA 0.383000 T MLL AML 4 36 0 0 1 0 0 CHD1 1105 broad.mit.edu 37 5 98236587 98236587 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:98236587C>T ENST00000284049.3 - 6 936 c.787G>A c.(787-789)Gtt>Att p.V263I NM_001270.2 NP_001261.2 O14646 CHD1_HUMAN chromodomain helicase DNA binding protein 1 263 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding|methylated histone residue binding NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2) 49 all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117) COAD - Colon adenocarcinoma(37;0.0717) Epirubicin(DB00445) GGTTGAGGAACATCCTCTCCA 0.378000 47 73 0 0 1 0 0 LAMA1 284217 broad.mit.edu 37 18 6966249 6966249 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr18:6966249G>A ENST00000389658.3 - 49 7040 c.6947C>T c.(6946-6948)tCt>tTt p.S2316F NM_005559.3 NP_005550.2 P25391 LAMA1_HUMAN laminin, alpha 1 2316 Laminin G-like 2. axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development extracellular space|laminin-1 complex|laminin-3 complex extracellular matrix structural constituent|receptor binding NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3) 205 Colorectal(10;0.172) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) CTCCACGACAGAGTACCCACT 0.463000 25 29 0 0 1 0 0 C9orf156 51531 broad.mit.edu 37 9 100675781 100675781 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:100675781G>A ENST00000375119.3 - 3 387 c.311C>T c.(310-312)cCt>cTt p.P104L C9orf156_ENST00000478126.1_5'UTR NM_016481.3 NP_057565.3 Q9BU70 NAP1_HUMAN chromosome 9 open reading frame 156 104 interspecies interaction between organisms hydrolase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)|skin(1) 13 Acute lymphoblastic leukemia(62;0.158) ATTCAGCCTAGGAGGCTGCAC 0.423000 35 79 0 0 1 0 0 ANKK1 255239 broad.mit.edu 37 11 113270413 113270413 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:113270413G>A ENST00000303941.3 + 8 1816 c.1722G>A c.(1720-1722)ctG>ctA p.L574L NM_178510.1 NP_848605.1 Q8NFD2 ANKK1_HUMAN ankyrin repeat and kinase domain containing 1 574 ATP binding|protein serine/threonine kinase activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|stomach(1) 29 all_cancers(61;1.53e-11)|all_epithelial(67;3e-06)|Melanoma(852;4.04e-05)|all_hematologic(158;0.000315)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0461)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Prostate(24;0.194) BRCA - Breast invasive adenocarcinoma(274;4.82e-06)|Epithelial(105;5.41e-05)|all cancers(92;0.000442)|OV - Ovarian serous cystadenocarcinoma(223;0.238) GCAAATACCTGATCTGCAAGA 0.627000 12 17 0 0 1 0 0 UMOD 7369 broad.mit.edu 37 16 20360527 20360527 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr16:20360527G>A ENST00000396134.2 - 4 318 c.195C>T c.(193-195)tgC>tgT p.C65C UMOD_ENST00000302509.4_Silent_p.C32C|UMOD_ENST00000570689.1_Silent_p.C32C|UMOD_ENST00000396142.2_Silent_p.C32C|UMOD_ENST00000396138.4_Silent_p.C81C|UMOD_ENST00000424589.1_Silent_p.C65C NM_001278614.1 NP_001265543.1 P07911 UROM_HUMAN uromodulin 32 EGF-like 2; calcium-binding (Potential). cellular defense response|negative regulation of cell proliferation anchored to membrane|apical plasma membrane|basolateral plasma membrane|cilium membrane|extrinsic to membrane|primary cilium|spindle pole calcium ion binding endometrium(5)|kidney(1)|large_intestine(7)|lung(20)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 41 GACATTCAGAGCACCATCCTG 0.587000 17 26 0 0 1 0 0 HIST1H2AG 8969 broad.mit.edu 37 6 27101030 27101030 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:27101030C>T ENST00000359193.2 + 1 199 c.180C>T c.(178-180)acC>acT p.T60T NM_021064.4 NP_066408.1 P0C0S8 H2A1_HUMAN histone cluster 1, H2ag 60 nucleosome assembly nucleosome|nucleus DNA binding|enzyme binding biliary_tract(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1) 17 AGTACCTGACCGCCGAGATCC 0.682000 47 160 0 0 1 0 0 SNHG14 104472715 broad.mit.edu 37 15 25337195 25337195 + RNA SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr15:25337195C>T ENST00000546682.1 + 0 969 SNHG14_ENST00000549804.2_RNA|SNHG14_ENST00000553108.1_RNA NR_003361.1 AAGGACTTCTCTTTGTGAGGC 0.552000 8 11 0 0 1 0 0 IGHG3 3502 broad.mit.edu 37 14 106235853 106235853 + RNA SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr14:106235853C>T ENST00000390551.2 - 0 853 TCATCTCCTCCCGGGATGGGG 0.642000 5 285 0 0 1 0 0 BAGE2 85319 broad.mit.edu 37 21 11097640 11097640 + RNA SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr21:11097640G>A ENST00000470054.1 - 0 229 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) gacaatgccagaaaaacctac 0.567000 8 119 0 0 1 0 0 GDF2 2658 broad.mit.edu 37 10 48414498 48414498 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:48414498C>T ENST00000249598.1 - 2 529 c.370G>A c.(370-372)Gag>Aag p.E124K NM_016204.1 NP_057288.1 Q9UK05 GDF2_HUMAN growth differentiation factor 2 124 activin receptor signaling pathway|BMP signaling pathway|cartilage development|cellular iron ion homeostasis|growth|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of DNA replication|negative regulation of endothelial cell proliferation|ossification|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent extracellular space cytokine activity|growth factor activity breast(1)|endometrium(2)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 28 GGGAAGTCCTCTGTGGCAGTT 0.507000 21 51 0 0 1 0 0 VCX 26609 broad.mit.edu 37 X 7811746 7811746 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chrX:7811746C>T ENST00000381059.3 + 3 529 c.310C>T c.(310-312)Ctg>Ttg p.L104L VCX_ENST00000341408.4_Silent_p.L104L NM_013452.2 NP_038480.2 Q9H320 VCX1_HUMAN variable charge, X-linked 104 10 X 10 AA tandem repeats of L-S-Q-E-S- [EQ]-V-E-E-P.|Glu-rich. chromatin organization|ribosome assembly|spermatogenesis nucleolus chromatin binding NS(1)|endometrium(4)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1) 10 Colorectal(8;0.0136)|Medulloblastoma(8;0.184) GCACGACCCCCTGAGTCAGGA 0.677000 23 83 0 0 1 0 0 MYO5B 4645 broad.mit.edu 37 18 47432805 47432805 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr18:47432805C>T ENST00000285039.7 - 19 2697 c.2398G>A c.(2398-2400)Gga>Aga p.G800R NM_001080467.2 NP_001073936.1 Q9ULV0 MYO5B_HUMAN myosin VB 800 IQ 2. protein transport myosin complex actin binding|ATP binding|calmodulin binding|motor activity NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4) 87 READ - Rectum adenocarcinoma(32;0.103) GCCAGGTGTCCCCGGCAGTAC 0.582000 17 55 0 0 1 0 0 OR4D2 124538 broad.mit.edu 37 17 56247769 56247769 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:56247769C>T ENST00000545221.1 + 1 753 c.753C>T c.(751-753)ttC>ttT p.F251F NM_001004707.3 NP_001004707.1 P58180 OR4D2_HUMAN olfactory receptor, family 4, subfamily D, member 2 251 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|kidney(1)|large_intestine(1)|lung(19)|ovary(1)|skin(2)|stomach(1) 26 CCATGATCTTCGTTCCAAGCA 0.537000 65 168 0 0 1 0 0 CHDC2 286464 broad.mit.edu 37 X 36103431 36103431 + Splice_Site SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chrX:36103431G>A ENST00000378660.1 + 5 605 c.416_splice c.e5-1 p.R139_splice CHDC2_ENST00000313548.4_Splice_Site_p.R139_splice calponin homology domain containing 2 TTTCTCATAGGGATGTATATA 0.303000 48 23 0 0 1 0 0 OR5K2 402135 broad.mit.edu 37 3 98216534 98216534 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:98216534G>A ENST00000427338.1 + 1 87 c.10G>A c.(10-12)Gaa>Aaa p.E4K NM_001004737.1 NP_001004737.1 Q8NHB8 OR5K2_HUMAN olfactory receptor, family 5, subfamily K, member 2 4 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|large_intestine(1)|lung(10)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 18 AATGGTTGAAGAAAATCATAC 0.368000 47 81 0 0 1 0 0 AJAP1 55966 broad.mit.edu 37 1 4772595 4772595 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:4772595C>T ENST00000378191.4 + 2 1046 c.665C>T c.(664-666)aCc>aTc p.T222I AJAP1_ENST00000378190.3_Missense_Mutation_p.T222I NM_018836.3 NP_061324.1 Q9UKB5 AJAP1_HUMAN adherens junctions associated protein 1 222 Thr-rich. cell adhesion adherens junction|apical plasma membrane|basolateral plasma membrane|integral to membrane endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1) 24 all_cancers(77;0.071)|Ovarian(185;0.0721) all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215) Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689) accaccaccaccaccaccacg 0.622000 9 52 0 0 1 0 0 PLCE1 51196 broad.mit.edu 37 10 95791419 95791419 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:95791419G>A ENST00000260766.3 + 2 1250 c.616G>A c.(616-618)Gaa>Aaa p.E206K PLCE1_ENST00000371380.2_Missense_Mutation_p.E206K NM_016341.3 NP_057425.3 Q9P212 PLCE1_HUMAN phospholipase C, epsilon 1 206 activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction cytosol|Golgi membrane|membrane fraction|plasma membrane calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1) 8 Colorectal(252;0.0458) TACCCTATCAGAAAACTTAAT 0.408000 30 70 0 0 1 0 0 UGT2A1 10941 broad.mit.edu 37 4 70512677 70512677 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:70512677G>A ENST00000503640.1 - 1 741 c.686C>T c.(685-687)tCa>tTa p.S229L UGT2A1_ENST00000286604.4_Missense_Mutation_p.S229L|UGT2A1_ENST00000512704.1_Missense_Mutation_p.S229L|UGT2A1_ENST00000514019.1_Missense_Mutation_p.S229L NM_006798.3 NP_006789.2 Q9Y4X1 UD2A1_HUMAN UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus 229 detection of chemical stimulus|sensory perception of smell integral to membrane glucuronosyltransferase activity NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(1)|skin(2) 30 TGAATCCCATGATTTCCAAAG 0.328000 26 62 0 0 1 0 0 GABRP 2568 broad.mit.edu 37 5 170239206 170239206 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:170239206C>T ENST00000518525.1 + 11 1731 c.1267C>T c.(1267-1269)Cct>Tct p.P423S GABRP_ENST00000265294.4_Missense_Mutation_p.P423S|GABRP_ENST00000519385.1_3'UTR O00591 GBRP_HUMAN gamma-aminobutyric acid (GABA) A receptor, pi 423 cell junction|chloride channel complex|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity NS(1)|breast(1)|cervix(1)|endometrium(5)|large_intestine(4)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 29 Renal(175;0.000159)|Lung NSC(126;0.0122)|all_lung(126;0.0193) Medulloblastoma(196;0.0109)|all_neural(177;0.0298) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) ACTACTGTTTCCTTTGATTTT 0.353000 32 100 0 0 1 0 0 ABCB11 8647 broad.mit.edu 37 2 169792860 169792860 + Nonsense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:169792860C>T ENST00000263817.6 - 22 2818 c.2694G>A c.(2692-2694)tgG>tgA p.W898* NM_003742.2 NP_003733.2 O95342 ABCBB_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 11 898 ABC transmembrane type-1 2. bile acid biosynthetic process apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1) 57 Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016) GGCTCAGCTTCCAGCTAAAGG 0.502000 39 79 0 0 1 0 0 ITGAX 3687 broad.mit.edu 37 16 31371245 31371245 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr16:31371245C>T ENST00000268296.4 + 7 687 c.566C>T c.(565-567)tCc>tTc p.S189F ITGAX_ENST00000562522.1_Missense_Mutation_p.S189F NM_000887.3 NP_000878.2 P20702 ITAX_HUMAN integrin, alpha X (complement component 3 receptor 4 subunit) 189 VWFA. blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis integrin complex protein binding|receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 77 TCCCAGTTTTCCCTGATGCAG 0.572000 44 83 0 0 1 0 0 PATE2 399967 broad.mit.edu 37 11 125647831 125647831 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:125647831G>A ENST00000358524.3 - 3 188 c.143C>T c.(142-144)tCc>tTc p.S48F PATE2_ENST00000436890.2_Intron NM_212555.2 NP_997720.1 Q6UY27 PATE2_HUMAN prostate and testis expressed 2 48 extracellular space endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|prostate(1) 6 CAGGGAGCAGGATGTCATGAC 0.403000 19 18 0 0 1 0 0 SZT2 23334 broad.mit.edu 37 1 43904693 43904693 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:43904693C>T ENST00000562955.1 + 47 6550 c.6550C>T c.(6550-6552)Cta>Tta p.L2184L SZT2_ENST00000471177.1_3'UTR|SZT2_ENST00000372442.1_Silent_p.L1342L NM_015284.3 NP_056099.3 Q5T011 SZT2_HUMAN seizure threshold 2 homolog (mouse) 2241 peroxisome NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 113 GGCATGGTACCTACGGCAGAA 0.577000 73 120 0 0 1 0 0 TRPM1 4308 broad.mit.edu 37 15 31340111 31340111 + Missense_Mutation SNP A A C TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr15:31340111A>C ENST00000542188.1 - 13 1968 c.1655T>G c.(1654-1656)cTg>cGg p.L552R TRPM1_ENST00000397795.2_Missense_Mutation_p.L513R|TRPM1_ENST00000256552.6_Missense_Mutation_p.L535R NM_001252020.1 NP_001238949.1 Q7Z4N2 TRPM1_HUMAN transient receptor potential cation channel, subfamily M, member 1 513 cellular response to light stimulus|visual perception integral to plasma membrane calcium channel activity|receptor activity NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3) 99 all_lung(180;1.92e-11) all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199) ATCCCTCACCAGCAGATGAAG 0.408000 36 107 0 0 1 0 0 ZEB1 6935 broad.mit.edu 37 10 31809818 31809818 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:31809818G>A ENST00000446923.2 + 7 1898 c.1507G>A c.(1507-1509)Gac>Aac p.D503N ZEB1_ENST00000320985.10_Missense_Mutation_p.D519N|ZEB1_ENST00000560721.2_Missense_Mutation_p.D499N|ZEB1_ENST00000361642.5_Missense_Mutation_p.D520N|ZEB1_ENST00000542815.3_Missense_Mutation_p.D452N|ZEB1_ENST00000559858.1_3'UTR NM_001128128.2|NM_001174094.1 NP_001121600.1|NP_001167565.1 P37275 ZEB1_HUMAN zinc finger E-box binding homeobox 1 519 cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation cytoplasm E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4) 77 Prostate(175;0.0156) GTCTGAGAAGGACAAAAGCTT 0.368000 44 89 0 0 1 0 0 C9 735 broad.mit.edu 37 5 39315936 39315936 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:39315936G>A ENST00000263408.4 - 6 906 c.811C>T c.(811-813)Cgg>Tgg p.R271W C9_ENST00000509186.1_5'UTR NM_001737.3 NP_001728.1 P02748 CO9_HUMAN complement component 9 271 MACPF. complement activation, alternative pathway|complement activation, classical pathway|cytolysis|hemolysis by symbiont of host erythrocytes extracellular region|membrane attack complex central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 32 all_lung(31;0.000197) all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511) Epithelial(62;0.158) TATGAAAACCGAAAACTACCC 0.323000 30 174 0 0 1 0 0 PRDM5 11107 broad.mit.edu 37 4 121675722 121675722 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:121675722G>A ENST00000264808.3 - 14 1849 c.1609C>T c.(1609-1611)Cgt>Tgt p.R537C PRDM5_ENST00000515109.1_Intron|PRDM5_ENST00000428209.2_Missense_Mutation_p.R506C|PRDM5_ENST00000506065.1_5'UTR NM_018699.2 NP_061169.2 Q9NQX1 PRDM5_HUMAN PR domain containing 5 537 histone deacetylation|histone H3-K9 methylation|mitotic cell cycle|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus repressing transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(17)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 GTGTGAGTACGAATGTGCATC 0.313000 18 33 0 0 1 0 0 IGHV1-24 28467 broad.mit.edu 37 14 106733418 106733418 + RNA SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr14:106733418G>A ENST00000390610.2 - 0 136 CTCAGCCCCAGACTGTACCAG 0.587000 94 141 0 0 1 0 0 ZDHHC5 25921 broad.mit.edu 37 11 57457583 57457583 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:57457583C>T ENST00000287169.3 + 5 1827 c.465C>T c.(463-465)tcC>tcT p.S155S ZDHHC5_ENST00000527985.1_Silent_p.S102S NM_015457.2 NP_056272.2 Q9C0B5 ZDHC5_HUMAN zinc finger, DHHC-type containing 5 155 integral to membrane acyltransferase activity|zinc ion binding endometrium(6)|kidney(3)|large_intestine(3)|lung(5)|skin(1) 18 TCCTCCTTTCCCTGACAGCCC 0.493000 20 179 0 0 1 0 0 STRA6 64220 broad.mit.edu 37 15 74486149 74486149 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr15:74486149C>T ENST00000323940.5 - 8 957 c.712G>A c.(712-714)Ggc>Agc p.G238S STRA6_ENST00000449139.2_Missense_Mutation_p.G238S|STRA6_ENST00000535552.1_Missense_Mutation_p.G275S|STRA6_ENST00000574439.1_5'UTR|STRA6_ENST00000423167.2_Missense_Mutation_p.G229S|STRA6_ENST00000563965.1_Missense_Mutation_p.G277S|STRA6_ENST00000416286.3_Missense_Mutation_p.G230S|STRA6_ENST00000574278.1_Missense_Mutation_p.G253S|STRA6_ENST00000395105.4_Missense_Mutation_p.G238S NM_001142617.1|NM_001142618.1|NM_001142619.1 NP_001136089.1|NP_001136090.1|NP_001136091.1 Q9BX79 STRA6_HUMAN stimulated by retinoic acid 6 238 adrenal gland development|alveolar primary septum development|developmental growth|diaphragm development|digestive tract morphogenesis|ear development|embryonic camera-type eye formation|embryonic digestive tract development|eyelid development in camera-type eye|face morphogenesis|feeding behavior|female genitalia development|kidney development|lung vasculature development|neuromuscular process|nose morphogenesis|paramesonephric duct development|positive regulation of behavior|pulmonary artery morphogenesis|pulmonary valve morphogenesis|smooth muscle tissue development|transport|uterus morphogenesis|ventricular septum development|vocal learning integral to membrane|plasma membrane|protein complex receptor activity NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(5)|skin(1)|stomach(2) 26 ACCTTGGAGCCTGCTCCTGTC 0.617000 51 111 0 0 1 0 0 MC3R 4159 broad.mit.edu 37 20 54824379 54824379 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr20:54824379G>A ENST00000243911.2 + 1 592 c.480G>A c.(478-480)aaG>aaA p.K160K NM_019888.3 NP_063941.3 P41968 MC3R_HUMAN melanocortin 3 receptor 197 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|positive regulation of cAMP biosynthetic process integral to plasma membrane melanocyte-stimulating hormone receptor activity|neuropeptide binding|protein binding breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(3)|skin(1) 26 Colorectal(105;0.202) CCGTGAGGAAGGCCCTCACCT 0.587000 5 195 0 0 1 0 0 F7 2155 broad.mit.edu 37 13 113760188 113760188 + Silent SNP T T C TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr13:113760188T>C ENST00000375581.3 + 1 68 c.33T>C c.(31-33)ctT>ctC p.L11L F7_ENST00000346342.3_Silent_p.L11L|F7_ENST00000541084.1_Silent_p.L26L NM_000131.4 NP_000122.1 P08709 FA7_HUMAN coagulation factor VII (serum prothrombin conversion accelerator) 11 anti-apoptosis|blood coagulation, extrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of leukocyte chemotaxis|positive regulation of platelet-derived growth factor receptor signaling pathway|positive regulation of positive chemotaxis|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis endoplasmic reticulum lumen|Golgi lumen|plasma membrane calcium ion binding|glycoprotein binding|serine-type endopeptidase activity large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 16 all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163) all_cancers(25;0.118)|all_lung(25;0.0364)|all_epithelial(44;0.0393)|Lung NSC(25;0.128)|Breast(118;0.188) all cancers(43;0.0737)|Epithelial(84;0.213)|BRCA - Breast invasive adenocarcinoma(86;0.218) Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Menadione(DB00170) TCCTCTGCCTTCTGCTTGGGC 0.602000 6 5 0 0 1 0 0 TAS1R1 80835 broad.mit.edu 37 1 6637105 6637105 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:6637105G>A ENST00000333172.6 + 5 1762 c.1569G>A c.(1567-1569)ggG>ggA p.G523G TAS1R1_ENST00000351136.3_Silent_p.G269G|TAS1R1_ENST00000328191.4_Intron NM_138697.3 NP_619642.2 Q7RTX1 TS1R1_HUMAN taste receptor, type 1, member 1 523 sensory perception of umami taste plasma membrane protein heterodimerization activity|taste receptor activity NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(13)|ovary(1)|skin(1)|urinary_tract(2) 29 Ovarian(185;0.0212)|all_lung(157;0.154) all_cancers(23;8.73e-34)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443) Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642) TGCCCTGTGGGGCTGGGACCT 0.612000 20 57 0 0 1 0 0 NRCAM 4897 broad.mit.edu 37 7 107849893 107849893 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:107849893G>A ENST00000379028.3 - 12 1517 c.1047C>T c.(1045-1047)atC>atT p.I349I NRCAM_ENST00000379024.4_Silent_p.I330I|NRCAM_ENST00000425651.2_Silent_p.I349I|NRCAM_ENST00000351718.4_Silent_p.I343I|NRCAM_ENST00000413765.2_Silent_p.I330I|NRCAM_ENST00000379022.4_Silent_p.I349I Q92823 NRCAM_HUMAN neuronal cell adhesion molecule 349 Ig-like 3. angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly external side of plasma membrane|integral to plasma membrane ankyrin binding breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4) 65 TGGTATGGTGGATGGCTCCTA 0.343000 41 138 0 0 1 0 0 PKHD1L1 93035 broad.mit.edu 37 8 110534454 110534454 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:110534454C>T ENST00000378402.5 + 74 12175 c.12071C>T c.(12070-12072)tCt>tTt p.S4024F NM_177531.4 NP_803875.2 Q86WI1 PKHL1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 4024 immune response cytosol|extracellular space|integral to membrane receptor activity NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4) 263 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) ATTGCTGGTTCTCTTGGACAA 0.383000 HNSCC(38;0.096) 20 41 0 0 1 0 0 ZKSCAN7 55888 broad.mit.edu 37 3 44612166 44612166 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:44612166C>T ENST00000273320.3 + 6 1993 c.1564C>T c.(1564-1566)Cct>Tct p.P522S ZKSCAN7_ENST00000341840.3_Intron|RP11-944L7.4_ENST00000457331.1_RNA|ZKSCAN7_ENST00000426540.1_Missense_Mutation_p.P522S|ZKSCAN7_ENST00000431636.1_Intron NM_018651.2 NP_061121.2 zinc finger with KRAB and SCAN domains 7 TGGTAAGAAACCTTACAAATG 0.448000 68 133 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179413359 179413359 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:179413359C>T ENST00000589042.1 - 339 93218 c.92994G>A c.(92992-92994)gtG>gtA p.V30998V TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Silent_p.V22058V|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Silent_p.V29357V|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Silent_p.V28430V|TTN_ENST00000460472.2_Silent_p.V21933V|TTN_ENST00000342175.6_Silent_p.V22125V|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 29357 Fibronectin type-III 126. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TGTTGTTTTCCACAGTAAGGG 0.473000 75 192 0 0 1 0 0 SNORD3B-2 780852 broad.mit.edu 37 17 18967367 18967367 + RNA SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:18967367C>T ENST00000364880.1 - 0 82 tacctctcttcctcggggttt 0.493000 20 98 0 0 1 0 0 XRCC6 2547 broad.mit.edu 37 22 42052982 42052982 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr22:42052982C>T ENST00000359308.4 + 9 2022 c.1367C>T c.(1366-1368)cCa>cTa p.P456L XRCC6_ENST00000428575.2_Missense_Mutation_p.P323L|XRCC6_ENST00000360079.3_Missense_Mutation_p.P456L|XRCC6_ENST00000402580.3_Missense_Mutation_p.P415L|XRCC6_ENST00000405506.1_Missense_Mutation_p.P406L|XRCC6_ENST00000405878.1_Missense_Mutation_p.P456L P12956 XRCC6_HUMAN X-ray repair complementing defective repair in Chinese hamster cells 6 456 Ku. DNA ligation|double-strand break repair via nonhomologous end joining|initiation of viral infection|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|provirus integration|telomere maintenance|transcription, DNA-dependent DNA-dependent protein kinase-DNA ligase 4 complex|Ku70:Ku80 complex|membrane fraction|nuclear telomere cap complex|transcription factor complex 5'-deoxyribose-5-phosphate lyase activity|ATP binding|ATP-dependent DNA helicase activity|double-stranded DNA binding|protein C-terminus binding|transcription regulatory region DNA binding p.A454fs*7(2) central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 31 ATGGCAACTCCAGAGCAGGTG 0.433000 Non-homologous end-joining 20 73 0 0 1 0 0 RAB19 401409 broad.mit.edu 37 7 140111659 140111659 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:140111659C>T ENST00000275874.5 + 4 526 c.328C>T c.(328-330)Cct>Tct p.P110S RAB19_ENST00000356407.3_Intron|RAB19_ENST00000537763.1_Intron A4D1S5 RAB19_HUMAN RAB19, member RAS oncogene family 67 protein transport|small GTPase mediated signal transduction plasma membrane GTP binding breast(3)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1) 9 Melanoma(164;0.0142) GACTCTCCTTCCTGTCCTTCT 0.527000 13 133 0 0 1 0 0 PLCL1 5334 broad.mit.edu 37 2 198948679 198948679 + Nonsense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:198948679G>A ENST00000428675.1 + 2 836 c.438G>A c.(436-438)tgG>tgA p.W146* PLCL1_ENST00000437704.2_Nonsense_Mutation_p.W48* NM_006226.3 NP_006217.3 Q15111 PLCL1_HUMAN phospholipase C-like 1 146 Interaction with PPP1C.|PH. intracellular signal transduction|lipid metabolic process cytoplasm calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 80 Quinacrine(DB01103) CTCTTCGCTGGGAACCTTCAA 0.448000 30 40 0 0 1 0 0 MYBL2 4605 broad.mit.edu 37 20 42331475 42331475 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr20:42331475C>T ENST00000217026.4 + 8 1424 c.1297C>T c.(1297-1299)Ctg>Ttg p.L433L MYBL2_ENST00000396863.4_Silent_p.L409L NM_002466.2 NP_002457.1 P10244 MYBB_HUMAN v-myb avian myeloblastosis viral oncogene homolog-like 2 433 nucleus DNA binding|sequence-specific DNA binding transcription factor activity endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 46 Myeloproliferative disorder(115;0.00452) COAD - Colon adenocarcinoma(18;0.0031) TCTGTCCTTCCTGGATTCCTG 0.607000 35 87 0 0 1 0 0 NCKAP5 344148 broad.mit.edu 37 2 133489373 133489373 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:133489373G>A ENST00000409261.1 - 17 5753 c.5380C>T c.(5380-5382)Ccc>Tcc p.P1794S NCKAP5_ENST00000409213.1_Missense_Mutation_p.P475S|NCKAP5_ENST00000405974.3_Missense_Mutation_p.P475S|NCKAP5_ENST00000317721.6_Missense_Mutation_p.P1794S NM_207363.2 NP_997246.2 O14513 NCKP5_HUMAN NCK-associated protein 5 1794 protein binding NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 118 GTCATGATGGGGTCGGATGTG 0.537000 22 59 0 0 1 0 0 PAPPA2 60676 broad.mit.edu 37 1 176526025 176526025 + Missense_Mutation SNP G G C TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:176526025G>C ENST00000367662.3 + 2 1731 c.567G>C c.(565-567)agG>agC p.R189S PAPPA2_ENST00000367661.3_Missense_Mutation_p.R189S NM_020318.2 NP_064714.2 Q9BXP8 PAPP2_HUMAN pappalysin 2 189 cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1) 226 AGACCCAAAGGAGGGGCTGGG 0.587000 117 162 0 0 1 0 0 ABCC12 94160 broad.mit.edu 37 16 48158182 48158182 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr16:48158182C>T ENST00000311303.3 - 10 1874 c.1529G>A c.(1528-1530)gGa>gAa p.G510E ABCC12_ENST00000416054.1_Missense_Mutation_p.G510E|ABCC12_ENST00000448542.1_Missense_Mutation_p.G510E NM_033226.2 NP_150229.2 Q96J65 MRP9_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 12 510 ABC transporter 1. integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1) 90 all_cancers(37;0.0474)|all_lung(18;0.047) CCCACATATTCCCAAGATCTT 0.507000 16 143 0 0 1 0 0 ZNF727 442319 broad.mit.edu 37 7 63538735 63538735 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:63538735C>T ENST00000550760.3 + 4 1487 c.1308C>T c.(1306-1308)ttC>ttT p.F436F NM_001159522.1 NP_001152994.1 A8MUV8 ZN727_HUMAN zinc finger protein 727 436 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|kidney(2)|skin(1)|stomach(1)|urinary_tract(1) 8 TTAAGTGGTTCCCAGACCTGA 0.393000 5 30 0 0 1 0 0 SLCO1C1 53919 broad.mit.edu 37 12 20870110 20870110 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:20870110C>T ENST00000381552.1 + 7 1089 c.721C>T c.(721-723)Ctg>Ttg p.L241L SLCO1C1_ENST00000266509.2_Silent_p.L241L|SLCO1C1_ENST00000545102.1_Silent_p.L123L|SLCO1C1_ENST00000545604.1_Silent_p.L241L|SLCO1C1_ENST00000540354.1_Silent_p.L192L Q9NYB5 SO1C1_HUMAN solute carrier organic anion transporter family, member 1C1 241 sodium-independent organic anion transport integral to membrane|plasma membrane thyroid hormone transmembrane transporter activity NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 60 Esophageal squamous(101;0.149) CTTTGGTTTCCTGTTAGGCTC 0.333000 29 67 0 0 1 0 0 ZNF573 126231 broad.mit.edu 37 19 38230803 38230803 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:38230803C>T ENST00000339503.4 - 8 915 c.414G>A c.(412-414)ggG>ggA p.G138G ZNF573_ENST00000536220.1_Silent_p.G108G|ZNF573_ENST00000392138.1_Silent_p.G109G|ZNF573_ENST00000357309.3_Silent_p.G108G|ZNF573_ENST00000590414.2_Silent_p.G196G NM_152360.3 NP_689573.3 Q86YE8 ZN573_HUMAN zinc finger protein 573 176 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|cervix(3)|endometrium(2)|large_intestine(8)|liver(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)|Lung(45;0.0813)|LUSC - Lung squamous cell carcinoma(53;0.146) TAAAGTTCTTCCCACATTCTG 0.398000 7 148 0 0 1 0 0 CNBD2 140894 broad.mit.edu 37 20 34596245 34596245 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr20:34596245G>A ENST00000373973.3 + 9 1170 c.997G>A c.(997-999)Gaa>Aaa p.E333K CNBD2_ENST00000538900.1_Missense_Mutation_p.E333K|CNBD2_ENST00000349339.1_Missense_Mutation_p.E333K cyclic nucleotide binding domain containing 2 AAGATTTAAGGAATTCCAGAT 0.403000 8 190 0 0 1 0 0 KIF12 113220 broad.mit.edu 37 9 116854906 116854906 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:116854906G>A ENST00000374118.3 - 14 1436 c.1199C>T c.(1198-1200)gCc>gTc p.A400V NM_138424.1 NP_612433.1 Q96FN5 KIF12_HUMAN kinesin family member 12 533 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1) 17 GCCACCTGAGGCCTCAGGGTC 0.652000 4 9 0 0 1 0 0 TRIM7 81786 broad.mit.edu 37 5 180622312 180622312 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:180622312C>T ENST00000393315.1 - 7 1463 c.766G>A c.(766-768)Gcc>Acc p.A256T TRIM7_ENST00000274773.7_Missense_Mutation_p.A464T|TRIM7_ENST00000393319.3_Missense_Mutation_p.A282T|TRIM7_ENST00000504241.1_5'UTR|TRIM7_ENST00000361809.3_Missense_Mutation_p.A256T|TRIM7_ENST00000422067.2_Missense_Mutation_p.A256T NM_203296.1 NP_976041.1 Q9C029 TRIM7_HUMAN tripartite motif containing 7 464 cytoplasm|nucleus zinc ion binding NS(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)|stomach(1) 17 all_cancers(89;6.03e-06)|all_epithelial(37;7.1e-07)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684) all_cancers(40;0.000172)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;2e-06)|Epithelial(171;1.35e-05)|OV - Ovarian serous cystadenocarcinoma(192;0.000128)|Kidney(146;0.0674)|GBM - Glioblastoma multiforme(465;0.0802) AGGTCCAGGGCCACCCGCACG 0.701000 8 19 0 0 1 0 0 TCHHL1 126637 broad.mit.edu 37 1 152058145 152058145 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:152058145C>T ENST00000368806.1 - 3 2077 c.2013G>A c.(2011-2013)gaG>gaA p.E671E NM_001008536.1 NP_001008536.1 Q5QJ38 TCHL1_HUMAN trichohyalin-like 1 671 calcium ion binding breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1) 60 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.246) CACCTGTGATCTCTATTTCCA 0.512000 95 237 0 0 1 0 0 OR5K1 26339 broad.mit.edu 37 3 98188698 98188698 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:98188698C>T ENST00000332650.5 + 1 375 c.278C>T c.(277-279)tCc>tTc p.S93F NM_001004736.2 NP_001004736.2 Q8NHB7 OR5K1_HUMAN olfactory receptor, family 5, subfamily K, member 1 93 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(1)|large_intestine(4)|lung(21)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 AAAAGGATTTCCCTCTATGAA 0.428000 84 206 0 0 1 0 0 LIPG 9388 broad.mit.edu 37 18 47108778 47108778 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr18:47108778G>A ENST00000261292.4 + 7 1361 c.1083G>A c.(1081-1083)atG>atA p.M361I LIPG_ENST00000427224.2_Missense_Mutation_p.M287I NM_006033.2 NP_006024.1 Q9Y5X9 LIPE_HUMAN lipase, endothelial 361 PLAT. cholesterol homeostasis|high-density lipoprotein particle remodeling|phospholipid catabolic process|phospholipid homeostasis|positive regulation of cholesterol transport|positive regulation of high-density lipoprotein particle clearance|reverse cholesterol transport extracellular space heparin binding|lipoprotein lipase activity|phospholipase A1 activity|protein binding|triglyceride lipase activity autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(2) 18 ACAAGAACATGGGAGAAATTG 0.448000 5 96 0 0 1 0 0 GTF3C1 2975 broad.mit.edu 37 16 27480857 27480857 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr16:27480857C>T ENST00000356183.4 - 32 4844 c.4829G>A c.(4828-4830)gGc>gAc p.G1610D GTF3C1_ENST00000561623.1_Missense_Mutation_p.G1610D NM_001520.3 NP_001511.2 Q12789 TF3C1_HUMAN general transcription factor IIIC, polypeptide 1, alpha 220kDa 1610 transcription factor TFIIIC complex DNA binding|protein binding breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2) 80 CTCCAGGCTGCCGTCCTTCCC 0.597000 43 101 0 0 1 0 0 ELP4 26610 broad.mit.edu 37 11 31531539 31531539 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:31531539C>T ENST00000395934.2 + 1 215 c.208C>T c.(208-210)Cta>Tta p.L70L ELP4_ENST00000379163.5_Silent_p.L70L|ELP4_ENST00000350638.5_Silent_p.L70L Q96EB1 ELP4_HUMAN elongator acetyltransferase complex subunit 4 70 histone acetylation|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|DNA-directed RNA polymerase II, holoenzyme|Elongator holoenzyme complex|transcription elongation factor complex phosphorylase kinase regulator activity|protein binding breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3) 20 Lung SC(675;0.225) GCTCCCAGCCCTAGACCAGCT 0.632000 20 62 0 0 1 0 0 PLD5 200150 broad.mit.edu 37 1 242271114 242271114 + Missense_Mutation SNP T T G TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:242271114T>G ENST00000442594.2 - 9 1331 c.822A>C c.(820-822)aaA>aaC p.K274N PLD5_ENST00000536534.1_Missense_Mutation_p.K366N|PLD5_ENST00000427495.1_Missense_Mutation_p.K304N NM_152666.2 NP_689879.2 Q8N7P1 PLD5_HUMAN phospholipase D family, member 5 366 integral to membrane catalytic activity breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(22)|ovary(6)|skin(3)|urinary_tract(1) 55 Melanoma(84;0.242) OV - Ovarian serous cystadenocarcinoma(106;0.0329) CTTCTCTTATTTTTGCATCCA 0.348000 12 173 0 0 1 0 0 KLHL26 55295 broad.mit.edu 37 19 18779140 18779140 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:18779140C>T ENST00000300976.4 + 3 1023 c.933C>T c.(931-933)ctC>ctT p.L311L KLHL26_ENST00000599006.1_Intron NM_018316.1 NP_060786.1 Q53HC5 KLH26_HUMAN kelch-like family member 26 311 breast(1)|central_nervous_system(1)|kidney(1)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 17 TGCCCTCGCTCGTCACCTTCG 0.677000 26 63 0 0 1 0 0 GRIK5 2901 broad.mit.edu 37 19 42546821 42546821 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:42546821C>T ENST00000262895.3 - 11 1355 c.1356G>A c.(1354-1356)cgG>cgA p.R452R GRIK5_ENST00000593562.1_Silent_p.R452R|GRIK5_ENST00000301218.4_Silent_p.R452R NM_002088.4 NP_002079.3 Q16478 GRIK5_HUMAN glutamate receptor, ionotropic, kainate 5 452 cell junction|postsynaptic membrane extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 35 Prostate(69;0.059) L-Glutamic Acid(DB00142) CGGCCAGCTCCCGCAGCATGT 0.677000 29 63 0 0 1 0 0 MYOM3 127294 broad.mit.edu 37 1 24384018 24384018 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:24384018C>T ENST00000330966.7 - 37 4321 c.4159G>A c.(4159-4161)Gaa>Aaa p.E1387K MYOM3_ENST00000374434.3_Missense_Mutation_p.E1384K|RP11-293P20.2_ENST00000439239.2_RNA|MYOM3_ENST00000338909.5_Missense_Mutation_p.E277K Q5VTT5 MYOM3_HUMAN myomesin 3 1384 Ig-like C2-type 4. NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2) 68 Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153) CCCCTCACTTCCATGCGGTAT 0.552000 25 55 0 0 1 0 0 MYO16 23026 broad.mit.edu 37 13 109704667 109704667 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr13:109704667C>T ENST00000356711.2 + 25 2952 c.2826C>T c.(2824-2826)atC>atT p.I942I MYO16_ENST00000357550.2_Silent_p.I942I|MYO16_ENST00000457511.2_Silent_p.I454I NM_015011.1 NP_055826.1 Q9Y6X6 MYO16_HUMAN myosin XVI 942 Myosin head-like 2. cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane actin filament binding|ATP binding|motor activity NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 121 all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104) BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201) ATGTCGTGATCAATCATTTGT 0.368000 8 89 0 0 1 0 0 COL13A1 1305 broad.mit.edu 37 10 71562447 71562447 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:71562447G>A ENST00000356340.3 + 1 804 c.268G>A c.(268-270)Gga>Aga p.G90R COL13A1_ENST00000354547.3_Missense_Mutation_p.G90R|COL13A1_ENST00000398972.3_Missense_Mutation_p.G90R|COL13A1_ENST00000522165.1_Missense_Mutation_p.G90R|COL13A1_ENST00000398968.3_Missense_Mutation_p.G90R|COL13A1_ENST00000398964.3_Missense_Mutation_p.G90R|COL13A1_ENST00000398969.3_Missense_Mutation_p.G90R|COL13A1_ENST00000398974.3_Missense_Mutation_p.G90R|COL13A1_ENST00000520267.1_Missense_Mutation_p.G90R|COL13A1_ENST00000398966.3_Missense_Mutation_p.G90R|COL13A1_ENST00000398978.3_Missense_Mutation_p.G90R|COL13A1_ENST00000398973.3_Missense_Mutation_p.G90R|COL13A1_ENST00000517713.1_Missense_Mutation_p.G90R|COL13A1_ENST00000398971.3_Missense_Mutation_p.G90R|COL13A1_ENST00000357811.3_Missense_Mutation_p.G90R|COL13A1_ENST00000520133.1_Missense_Mutation_p.G90R Q5TAT6 CODA1_HUMAN collagen, type XIII, alpha 1 90 Nonhelical region 1 (NC1). cell differentiation|cell-cell adhesion|cell-matrix adhesion|endochondral ossification|morphogenesis of a branching structure collagen type XIII|integral to membrane extracellular matrix structural constituent|heparin binding|protein binding endometrium(5)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1) 28 Atorvastatin(DB01076)|Simvastatin(DB00641) GGCTATTTTGGGACGAGTCAA 0.647000 96 241 0 0 1 0 0 MAPK4 5596 broad.mit.edu 37 18 48248367 48248367 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr18:48248367G>A ENST00000400384.2 + 4 1787 c.751G>A c.(751-753)Gaa>Aaa p.E251K MAPK4_ENST00000592595.1_Intron|MAPK4_ENST00000540640.1_Missense_Mutation_p.E40K NM_002747.3 NP_002738.2 P31152 MK04_HUMAN mitogen-activated protein kinase 4 251 Protein kinase. cell cycle ATP binding|MAP kinase activity p.E251*(2) lung(4)|skin(3)|upper_aerodigestive_tract(1) 8 Colorectal(6;0.0297) Colorectal(21;0.156) AATCCGGGAGGAAGACAAGGA 0.577000 18 45 0 0 1 0 0 ZNF107 51427 broad.mit.edu 37 7 64168631 64168631 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:64168631C>T ENST00000395391.1 + 4 3324 c.1949C>T c.(1948-1950)aCc>aTc p.T650I ZNF107_ENST00000344930.3_Missense_Mutation_p.T650I|ZNF107_ENST00000423627.1_Missense_Mutation_p.T650I Q9UII5 ZN107_HUMAN zinc finger protein 107 650 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(18)|ovary(1)|stomach(1) 37 Lung NSC(55;0.00948)|all_lung(88;0.0249) TGCTCCTCAACCCTTAATAGA 0.373000 24 91 0 0 1 0 0 TBX5 6910 broad.mit.edu 37 12 114804101 114804101 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:114804101G>A ENST00000310346.4 - 8 1517 c.851C>T c.(850-852)tCa>tTa p.S284L TBX5_ENST00000526441.1_Missense_Mutation_p.S284L|TBX5_ENST00000405440.2_Missense_Mutation_p.S284L|TBX5_ENST00000349716.5_Missense_Mutation_p.S234L NM_000192.3 NP_000183.2 Q99593 TBX5_HUMAN T-box 5 284 cardiac left ventricle formation|cell migration involved in coronary vasculogenesis|cell-cell signaling|embryonic arm morphogenesis|induction of apoptosis|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|pericardium development|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|ventricular septum development cytoplasm|nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(29)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 56 Medulloblastoma(191;0.163)|all_neural(191;0.178) BRCA - Breast invasive adenocarcinoma(302;0.0893) CAAATTGGATGAGGTGGAGAG 0.572000 48 87 0 0 1 0 0 TRBV3-1 28619 broad.mit.edu 37 7 142008581 142008581 + RNA SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:142008581C>T ENST00000390387.3 + 0 101 TTGCAGGTCCCTTGGACACAG 0.458000 14 54 0 0 1 0 0 SLC5A7 60482 broad.mit.edu 37 2 108609428 108609428 + Splice_Site SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:108609428G>A ENST00000264047.2 + 4 569 c.292_splice c.e4-1 p.G98_splice SLC5A7_ENST00000540517.1_5'UTR|SLC5A7_ENST00000409059.1_Splice_Site_p.G98_splice NM_021815.2 NP_068587.1 Q9GZV3 SC5A7_HUMAN solute carrier family 5 (sodium/choline cotransporter), member 7 98 acetylcholine biosynthetic process|neurotransmitter secretion integral to membrane|plasma membrane choline:sodium symporter activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2) 49 Choline(DB00122) TAATTTTTAGGTGGCCTGTTC 0.373000 45 95 0 0 1 0 0 CKB 1152 broad.mit.edu 37 14 103987710 103987710 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr14:103987710C>T ENST00000348956.2 - 5 900 c.543G>A c.(541-543)gaG>gaA p.E181E NM_001823.4 NP_001814.2 P12277 KCRB_HUMAN creatine kinase, brain 181 Phosphagen kinase C-terminal. creatine metabolic process cytosol ATP binding|creatine kinase activity lung(2)|prostate(1) 3 Melanoma(154;0.155) Epithelial(46;0.14) Creatine(DB00148) GCTGCTCCGCCTCCGTCATGC 0.716000 18 41 0 0 1 0 0 SLC1A7 6512 broad.mit.edu 37 1 53600101 53600101 + Splice_Site SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:53600101C>T ENST00000371494.4 - 2 263 c.135_splice c.e2-1 p.E46_splice SLC1A7_ENST00000371491.4_Splice_Site_p.E46_splice NM_006671.4 NP_006662.3 O00341 EAA5_HUMAN solute carrier family 1 (glutamate transporter), member 7 46 integral to membrane|plasma membrane high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1) 26 Colorectal(1306;0.234) L-Glutamic Acid(DB00142) TAACTAATTTCCTGAAAACAC 0.498000 7 18 0 0 1 0 0 MCU 90550 broad.mit.edu 37 10 74644071 74644071 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:74644071C>T ENST00000536019.1 + 7 1207 c.762C>T c.(760-762)ttC>ttT p.F254F MCU_ENST00000357157.6_Silent_p.F282F|MCU_ENST00000373053.3_Silent_p.F303F|MCU_ENST00000605416.1_3'UTR NM_001270680.1 NP_001257609.1 Q8NE86 MCU_HUMAN mitochondrial calcium uniporter 303 elevation of mitochondrial calcium ion concentration|mitochondrial calcium ion transport|protein complex oligomerization integral to membrane|mitochondrial inner membrane protein binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|urinary_tract(1) 14 TACTATTTTTCCATAAAGGAG 0.323000 7 99 0 0 1 0 0 OSCP1 127700 broad.mit.edu 37 1 36883802 36883802 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:36883802C>T ENST00000356637.5 - 11 1171 c.1108G>A c.(1108-1110)Gag>Aag p.E370K OSCP1_ENST00000315643.9_Intron|OSCP1_ENST00000495222.1_5'UTR|OSCP1_ENST00000235532.5_Missense_Mutation_p.E360K|OSCP1_ENST00000433045.2_Missense_Mutation_p.E315K Q8WVF1 OSCP1_HUMAN organic solute carrier partner 1 370 transport basal plasma membrane NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1) 22 CTTGGCTGCTCCGTGATCTCA 0.572000 14 37 0 0 1 0 0 CA8 767 broad.mit.edu 37 8 61192413 61192413 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:61192413C>T ENST00000317995.4 - 2 391 c.127G>A c.(127-129)Gat>Aat p.D43N NM_004056.4 NP_004047.3 P35219 CAH8_HUMAN carbonic anhydrase VIII 43 one-carbon metabolic process carbonate dehydratase activity|zinc ion binding endometrium(2)|large_intestine(5)|lung(6)|prostate(2)|skin(1) 16 all_cancers(86;0.172)|all_epithelial(80;0.0383)|all_lung(136;0.0413)|Lung NSC(129;0.0474) CCATTAGCATCAGGAAACACC 0.373000 13 37 0 0 1 0 0 MYH4 4622 broad.mit.edu 37 17 10357101 10357101 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:10357101C>T ENST00000255381.2 - 23 2903 c.2793G>A c.(2791-2793)gaG>gaA p.E931E CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA NM_017533.2 NP_060003.2 Q9Y623 MYH4_HUMAN myosin, heavy chain 4, skeletal muscle 931 muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 149 CTTCCTCATCCTCAGCTCTTT 0.438000 122 245 0 0 1 0 0 L1CAM 3897 broad.mit.edu 37 X 153134975 153134975 + Splice_Site SNP G G C TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chrX:153134975G>C ENST00000370060.1 - 11 1456 c.1267_splice c.e11+1 p.Q423_splice L1CAM_ENST00000370057.3_Splice_Site_p.Q423_splice|L1CAM_ENST00000538883.1_Splice_Site_p.Q425_splice|L1CAM_ENST00000361981.3_Splice_Site_p.Q418_splice|L1CAM_ENST00000370055.1_Splice_Site_p.Q418_splice|L1CAM_ENST00000361699.4_Splice_Site_p.Q423_splice|L1CAM_ENST00000543994.1_Splice_Site_p.Q425_splice NM_001278116.1 NP_001265045.1 P32004 L1CAM_HUMAN L1 cell adhesion molecule 423 axon guidance|blood coagulation|cell death|leukocyte migration integral to membrane NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 81 all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05) GGGCACTCACGGACAACGTAG 0.612000 13 4 0 0 1 0 0 NCKAP5 344148 broad.mit.edu 37 2 133540229 133540229 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:133540229C>T ENST00000409261.1 - 14 4528 c.4155G>A c.(4153-4155)aaG>aaA p.K1385K NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000317721.6_Silent_p.K1385K NM_207363.2 NP_997246.2 O14513 NCKP5_HUMAN NCK-associated protein 5 1385 protein binding NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 118 GCTGGTCTTCCTTTCCAGGTG 0.602000 24 50 0 0 1 0 0 WNT7B 7477 broad.mit.edu 37 22 46345931 46345931 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr22:46345931G>A ENST00000339464.4 - 2 541 c.167C>T c.(166-168)cCc>cTc p.P56L WNT7B_ENST00000409496.3_Missense_Mutation_p.P60L|WNT7B_ENST00000410089.1_Missense_Mutation_p.P40L|WNT7B_ENST00000410058.1_Missense_Mutation_p.P56L NM_058238.2 NP_478679.1 P56706 WNT7B_HUMAN wingless-type MMTV integration site family, member 7B 56 activation of JUN kinase activity|anterior/posterior pattern formation|axis specification|axonogenesis|canonical Wnt receptor signaling pathway|cell-cell signaling|cellular response to retinoic acid|central nervous system vasculogenesis|chorio-allantoic fusion|developmental growth involved in morphogenesis|embryonic placenta morphogenesis|establishment or maintenance of polarity of embryonic epithelium|fibroblast proliferation|forebrain regionalization|inner medullary collecting duct development|lens fiber cell development|lobar bronchus development|lung epithelium development|lung morphogenesis|lung-associated mesenchyme development|mammary gland epithelium development|metanephric collecting duct development|metanephric loop of Henle development|metanephros morphogenesis|negative regulation of smoothened signaling pathway|outer medullary collecting duct development|oxygen homeostasis|positive regulation of JNK cascade|positive regulation of osteoblast differentiation|renal inner medulla development|renal outer medulla development|stem cell proliferation|synapse organization|trachea cartilage morphogenesis|Wnt receptor signaling pathway, calcium modulating pathway extracellular space|plasma membrane|proteinaceous extracellular matrix extracellular matrix structural constituent|frizzled binding|signal transducer activity endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 19 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|LUAD - Lung adenocarcinoma(64;0.247) GATGGCATCGGGCCGACTCTG 0.627000 36 49 0 0 1 0 0 LRP2 4036 broad.mit.edu 37 2 170175275 170175275 + Missense_Mutation SNP A A T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:170175275A>T ENST00000263816.3 - 3 592 c.307T>A c.(307-309)Tgc>Agc p.C103S LRP2_ENST00000443831.1_Missense_Mutation_p.C103S NM_004525.2 NP_004516.2 P98164 LRP2_HUMAN low density lipoprotein receptor-related protein 2 103 LDL-receptor class A 2. C -> R (found in a renal cell carcinoma sample; somatic mutation). hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process coated pit|integral to membrane|lysosome calcium ion binding|receptor activity|SH3 domain binding p.C103R(1) biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13) 315 STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101) Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013) CACTTACAGCAATCTTGACGT 0.453000 8 101 0 0 1 0 0 ANK3 288 broad.mit.edu 37 10 61830966 61830966 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:61830966C>T ENST00000280772.1 - 37 9864 c.9673G>A c.(9673-9675)Gaa>Aaa p.E3225K ANK3_ENST00000355288.2_Intron|ANK3_ENST00000503366.1_Intron|ANK3_ENST00000373827.2_Intron NM_020987.3 NP_066267.2 Q12955 ANK3_HUMAN ankyrin 3, node of Ranvier (ankyrin G) 3225 establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding p.E3225K(1) NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 196 ACTGCTGTTTCCTCCACTGTA 0.478000 58 132 0 0 1 0 0 IGHM 3507 broad.mit.edu 37 14 106321716 106321716 + RNA SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr14:106321716G>A ENST00000390559.2 - 0 517 GTAGGTCGTGGGCCCAGACTC 0.632000 24 30 0 0 1 0 0 ACACA 31 broad.mit.edu 37 17 35601521 35601521 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:35601521G>A ENST00000353139.5 - 21 3206 c.2725C>T c.(2725-2727)Cct>Tct p.P909S ACACA_ENST00000394406.2_Missense_Mutation_p.P872S|ACACA_ENST00000335166.5_Missense_Mutation_p.P794S|ACACA_ENST00000360679.3_Missense_Mutation_p.P814S NM_198834.1|NM_198839.1 NP_942131.1|NP_942136.1 Q13085 ACACA_HUMAN acetyl-CoA carboxylase alpha 872 acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process cytosol acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 83 Breast(25;0.00157)|Ovarian(249;0.15) Biotin(DB00121) CTAAAGAAAGGATCTGGAAGG 0.438000 5 134 0 0 1 0 0 FCGBP 8857 broad.mit.edu 37 19 40362835 40362835 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:40362835C>T ENST00000221347.6 - 32 15242 c.15235G>A c.(15235-15237)Gac>Aac p.D5079N NM_003890.2 NP_003881.2 Q9Y6R7 FCGBP_HUMAN Fc fragment of IgG binding protein 5079 extracellular region protein binding NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3) 165 all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06) Epithelial(26;6.25e-23)|all cancers(26;1.13e-20) GCGCACAGGTCGTATACGCAT 0.672000 72 186 0 0 1 0 0 NOP56 10528 broad.mit.edu 37 20 2633988 2633988 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr20:2633988C>T ENST00000329276.5 + 3 673 c.157C>T c.(157-159)Ccc>Tcc p.P53S NM_006392.3 NP_006383.2 O00567 NOP56_HUMAN NOP56 ribonucleoprotein 53 rRNA processing box C/D snoRNP complex|pre-snoRNP complex protein binding|snoRNA binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1) 25 GGCCTTTTGTCCCTTTGCCTC 0.552000 74 187 0 0 1 0 0 ACACB 32 broad.mit.edu 37 12 109689861 109689861 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:109689861G>A ENST00000338432.7 + 42 5920 c.5801G>A c.(5800-5802)cGa>cAa p.R1934Q ACACB_ENST00000377848.3_Missense_Mutation_p.R1934Q|ACACB_ENST00000377854.5_Missense_Mutation_p.R1864Q|ACACB_ENST00000543201.1_Missense_Mutation_p.R600Q O00763 ACACB_HUMAN acetyl-CoA carboxylase beta 1934 Carboxyltransferase. acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation cytosol|endomembrane system|Golgi apparatus|membrane acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 Biotin(DB00121) GTGACCTGCCGAGCCATTGGG 0.602000 7 20 0 0 1 0 0 SPIC 121599 broad.mit.edu 37 12 101880274 101880274 + Nonsense_Mutation SNP A A T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:101880274A>T ENST00000551346.1 + 6 631 c.472A>T c.(472-474)Aaa>Taa p.K158* SPIC_ENST00000299272.5_Nonsense_Mutation_p.K158* Q8N5J4 SPIC_HUMAN Spi-C transcription factor (Spi-1/PU.1 related) 158 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|prostate(2)|skin(4)|upper_aerodigestive_tract(2) 22 GGGGAAAAGAAAAGGCAACAG 0.423000 49 74 0 0 1 0 0 MUC2 4583 broad.mit.edu 37 11 1097181 1097181 + Splice_Site SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:1097181G>A ENST00000441003.2 + 35 6624 c.e35-1 MUC2_ENST00000361558.6_Splice_Site NM_002457.2 NP_002448.2 Q02817 MUC2_HUMAN mucin 2, oligomeric mucus/gel-forming inner mucus layer|outer mucus layer protein binding NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 102 all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191) BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) Pranlukast(DB01411) GTCGGCCACAGGTGCAGGTGA 0.627000 9 64 0 0 1 0 0 SHC4 399694 broad.mit.edu 37 15 49217128 49217128 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr15:49217128C>T ENST00000332408.4 - 2 1032 c.604G>A c.(604-606)Gtg>Atg p.V202M NM_203349.3 NP_976224.3 Q6S5L8 SHC4_HUMAN SHC (Src homology 2 domain containing) family, member 4 202 PID. intracellular signal transduction cell junction|postsynaptic membrane breast(1)|endometrium(2)|large_intestine(8)|lung(11)|ovary(3)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1) 29 all_lung(180;0.00466) all cancers(107;9.4e-08)|GBM - Glioblastoma multiforme(94;5.94e-07) GATTGCAGCACTTCAACACAG 0.408000 35 64 0 0 1 0 0 F2RL1 2150 broad.mit.edu 37 5 76129454 76129454 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:76129454C>T ENST00000296677.4 + 2 1228 c.1022C>T c.(1021-1023)cCc>cTc p.P341L NM_005242.4 NP_005233.3 P55085 PAR2_HUMAN coagulation factor II (thrombin) receptor-like 1 341 blood coagulation|elevation of cytosolic calcium ion concentration|positive regulation of leukocyte chemotaxis|positive regulation of positive chemotaxis|regulation of blood coagulation Golgi apparatus|integral to plasma membrane receptor binding|thrombin receptor activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1) 13 all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11) OV - Ovarian serous cystadenocarcinoma(54;7.7e-51)|Epithelial(54;2.77e-45)|all cancers(79;3.47e-41) TGCATCGACCCCTTTGTCTAT 0.478000 184 437 0 0 1 0 0 PAQR9 344838 broad.mit.edu 37 3 142681965 142681965 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:142681965C>T ENST00000340634.3 - 1 213 c.214G>A c.(214-216)Gag>Aag p.E72K RP11-372E1.6_ENST00000594095.1_RNA NM_198504.2 NP_940906.1 Q6ZVX9 PAQR9_HUMAN progestin and adipoQ receptor family member IX 72 integral to membrane receptor activity endometrium(2)|large_intestine(7)|lung(12)|prostate(1) 22 GCTAGGCACTCCTGGGCCGTG 0.632000 10 15 0 0 1 0 0 STAT2 6773 broad.mit.edu 37 12 56737218 56737218 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:56737218G>A ENST00000314128.4 - 24 2534 c.2511C>T c.(2509-2511)ccC>ccT p.P837P STAT2_ENST00000557235.1_Silent_p.P833P|STAT2_ENST00000556539.1_5'UTR P52630 STAT2_HUMAN signal transducer and activator of transcription 2, 113kDa 837 interspecies interaction between organisms|JAK-STAT cascade|regulation of transcription from RNA polymerase II promoter|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway cytosol|nucleoplasm|plasma membrane calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity NS(1)|endometrium(2)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|skin(3) 31 AGAAGTGGCTGGGGCGGGAGA 0.483000 23 60 0 0 1 0 0 TTF2 8458 broad.mit.edu 37 1 117644097 117644097 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:117644097C>T ENST00000369466.3 + 23 3484 c.3440C>T c.(3439-3441)tCt>tTt p.S1147F TTF2_ENST00000480701.1_3'UTR NM_003594.3 NP_003585.3 Q9UNY4 TTF2_HUMAN transcription termination factor, RNA polymerase II 1147 Helicase C-terminal. mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|termination of RNA polymerase II transcription cytoplasm|spliceosomal complex|transcription elongation factor complex ATP binding|ATP-dependent helicase activity|DNA binding|DNA-dependent ATPase activity|protein binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(24)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2) 50 Lung SC(450;0.225) all_cancers(81;4.23e-06)|all_epithelial(167;3.65e-07)|all_lung(203;2.81e-06)|Lung NSC(69;1.98e-05) Lung(183;0.0553)|Colorectal(144;0.179)|LUSC - Lung squamous cell carcinoma(189;0.19) TCTGGAGAATCTGTCACCAAG 0.423000 105 237 0 0 1 0 0 SCRT2 85508 broad.mit.edu 37 20 644447 644447 + Silent SNP G G T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr20:644447G>T ENST00000246104.6 - 2 1369 c.792C>A c.(790-792)gcC>gcA p.A264A RP5-850E9.3_ENST00000488788.2_Intron NM_033129.3 NP_149120.1 Q9NQ03 SCRT2_HUMAN scratch family zinc finger 2 264 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding kidney(1)|liver(1)|ovary(1) 3 AGTGCTTGAAGGCCGAGTGCG 0.687000 4 13 5.9392e-07 5.96554e-07 1 1 0 SIX6 4990 broad.mit.edu 37 14 60976662 60976662 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr14:60976662G>A ENST00000327720.5 + 1 994 c.546G>A c.(544-546)agG>agA p.R182R NM_007374.2 NP_031400.2 O95475 SIX6_HUMAN SIX homeobox 6 182 organ morphogenesis|visual perception nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(2) 11 OV - Ovarian serous cystadenocarcinoma(108;0.088) GCCGACAAAGGGACCGAGCGG 0.632000 10 24 0 0 1 0 0 OXGR1 27199 broad.mit.edu 37 13 97639571 97639571 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr13:97639571C>T ENST00000298440.1 - 4 686 c.443G>A c.(442-444)cGa>cAa p.R148Q OXGR1_ENST00000543457.1_Missense_Mutation_p.R148Q NM_080818.3 NP_543008.3 Q96P68 OXGR1_HUMAN oxoglutarate (alpha-ketoglutarate) receptor 1 148 integral to membrane|plasma membrane purinergic nucleotide receptor activity, G-protein coupled NS(1)|large_intestine(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 15 all_neural(89;0.0982)|Medulloblastoma(90;0.163) BRCA - Breast invasive adenocarcinoma(86;0.186) AACTGCACATCGAGTTTTGTG 0.463000 7 43 0 0 1 0 0 GBX2 2637 broad.mit.edu 37 2 237075029 237075029 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:237075029G>A ENST00000306318.4 - 2 972 c.575C>T c.(574-576)cCg>cTg p.P192L GBX2_ENST00000465889.1_5'UTR|GBX2_ENST00000551105.1_Silent_p.P204P NM_001485.2 NP_001476.2 P52951 GBX2_HUMAN gastrulation brain homeobox 2 192 LPPAHPHHQIPSLPTGFCSSLAQGMALTSTLMATLPGGFSA SPQHQEAAAARKFAPQPLPGGGNFDKAEALQADAEDGKGFL AKEGSLLAFSAAETVQASLVGAVRGQGKDESKVEDDPKG -> CRPHTLTTRSPACPQASAPAWRRAWRSPLRSWPRSPAA SPRRPSTRRRQRPASSRRSRCPAAVTSTRRRRCRLTRRTAK ASWPKRARCSPSPRPRRCRLRSSGLSEGKGKTSQRWKTTRS (in Ref. 1; AAC03241). nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.P192Q(1) endometrium(1)|kidney(1)|large_intestine(1)|lung(4) 7 Breast(86;0.00235)|Renal(207;0.00339)|all_hematologic(139;0.00357)|all_lung(227;0.0616)|Acute lymphoblastic leukemia(138;0.0775)|Ovarian(221;0.089)|Lung NSC(271;0.179) Epithelial(121;4.5e-25)|OV - Ovarian serous cystadenocarcinoma(60;5.16e-11)|BRCA - Breast invasive adenocarcinoma(100;3.4e-05)|Lung(119;0.00195)|LUSC - Lung squamous cell carcinoma(224;0.00471) CTTGCCCTTCGGGTCGTCTTC 0.557000 53 126 0 0 1 0 0 PIDD 55367 broad.mit.edu 37 11 802336 802336 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:802336G>A ENST00000347755.5 - 6 1176 c.1035C>T c.(1033-1035)ttC>ttT p.F345F PIDD_ENST00000411829.2_Silent_p.F345F NM_145886.3|NM_145887.3 NP_665893.2|NP_665894.2 Q9HB75 PIDD_HUMAN p53-induced death domain protein 345 ZU5 1. apoptosis|signal transduction cytoplasm|nucleus death receptor binding CTCCCGCTGGGAACTGCAGGC 0.662000 41 28 0 0 1 0 0 DNAH11 8701 broad.mit.edu 37 7 21657349 21657349 + Missense_Mutation SNP C C G TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:21657349C>G ENST00000328843.6 + 23 4254 c.4223C>G c.(4222-4224)cCt>cGt p.P1408R DNAH11_ENST00000409508.3_Missense_Mutation_p.P1403R Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 1408 Stem (By similarity). microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 230 TTACAGAGCCCTGCCCTCAGG 0.517000 Kartagener syndrome 5 41 0 0 1 0 0 WASF2 10163 broad.mit.edu 37 1 27741417 27741417 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:27741417G>A ENST00000430629.2 - 6 793 c.578C>T c.(577-579)cCa>cTa p.P193L WASF2_ENST00000536657.1_Missense_Mutation_p.P193L NM_001201404.1|NM_006990.3 NP_001188333.1|NP_008921.1 Q9Y6W5 WASF2_HUMAN WAS protein family, member 2 193 actin cytoskeleton organization|G-protein signaling, coupled to cAMP nucleotide second messenger actin cytoskeleton|lamellipodium actin binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 18 all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0446)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.7e-08)|COAD - Colon adenocarcinoma(152;2e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00139)|KIRC - Kidney renal clear cell carcinoma(1967;0.00204)|STAD - Stomach adenocarcinoma(196;0.00325)|READ - Rectum adenocarcinoma(331;0.0481) GATTTTACGTGGGTTTACATT 0.378000 11 134 0 0 1 0 0 SYNE2 23224 broad.mit.edu 37 14 64637090 64637090 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr14:64637090C>T ENST00000357395.3 + 95 17444 c.6300C>T c.(6298-6300)ttC>ttT p.F2100F SYNE2_ENST00000358025.3_Silent_p.F5715F|SYNE2_ENST00000344113.4_Silent_p.F5715F|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000394768.2_Silent_p.F2100F|SYNE2_ENST00000554584.1_Intron|SYNE2_ENST00000555002.1_Silent_p.F2349F Q8WXH0 SYNE2_HUMAN spectrin repeat containing, nuclear envelope 2 5715 centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc actin binding|protein binding NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4) 224 all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681) TGTTTCGCTTCCTCACTGACA 0.532000 22 40 0 0 1 0 0 IRF8 3394 broad.mit.edu 37 16 85953803 85953803 + Silent SNP C C T rs148203070 TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr16:85953803C>T ENST00000268638.5 + 8 1499 c.1077C>T c.(1075-1077)ccC>ccT p.P359P IRF8_ENST00000562492.1_Silent_p.P155P NM_002163.2 NP_002154.1 Q02556 IRF8_HUMAN interferon regulatory factor 8 359 interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway nucleus DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1) 24 Prostate(104;0.0771) ATATGGCCCCCTTGCGCTCCA 0.502000 29 17 0 0 1 0 0 PCDHB5 26167 broad.mit.edu 37 5 140516137 140516137 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:140516137C>T ENST00000231134.5 + 1 1338 c.1121C>T c.(1120-1122)tCc>tTc p.S374F NM_015669.2 NP_056484.1 Q9Y5E4 PCDB5_HUMAN 374 Cadherin 4. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding|protein binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2) 81 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GATCCAGACTCCGGGGACAAC 0.488000 36 84 0 0 1 0 0 ZNF713 349075 broad.mit.edu 37 7 56007448 56007448 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:56007448C>T ENST00000429591.2 + 4 1080 c.1042C>T c.(1042-1044)Cat>Tat p.H348Y MRPS17_ENST00000426595.1_Intron NM_182633.1 NP_872439.1 Q8N859 ZN713_HUMAN zinc finger protein 713 348 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 25 Breast(14;0.214) Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099) TACTGAACATCATAGACTTCA 0.408000 48 116 0 0 1 0 0 PRMT8 56341 broad.mit.edu 37 12 3702296 3702296 + Missense_Mutation SNP T T A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:3702296T>A ENST00000382622.3 + 10 1523 c.1133T>A c.(1132-1134)tTt>tAt p.F378Y PRMT8_ENST00000261252.4_3'UTR|PRMT8_ENST00000452611.2_Missense_Mutation_p.F369Y NM_019854.4 NP_062828.3 Q9NR22 ANM8_HUMAN protein arginine methyltransferase 8 378 regulation of protein binding cytoplasm|plasma membrane histone-arginine N-methyltransferase activity|protein heterodimerization activity|protein homodimerization activity|protein-arginine omega-N asymmetric methyltransferase activity|protein-arginine omega-N monomethyltransferase activity breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(3)|skin(5)|upper_aerodigestive_tract(1) 37 OV - Ovarian serous cystadenocarcinoma(31;0.0109)|COAD - Colon adenocarcinoma(12;0.0264) GACTTGGATTTTAAGGGACAG 0.517000 12 41 0 0 1 0 0 TLR10 81793 broad.mit.edu 37 4 38775715 38775715 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:38775715G>A ENST00000308973.4 - 4 2102 c.1497C>T c.(1495-1497)ttC>ttT p.F499F TLR10_ENST00000508334.1_Silent_p.F499F|TLR10_ENST00000361424.2_Silent_p.F499F|TLR10_ENST00000506111.1_Silent_p.F499F NM_001017388.2|NM_001195107.1|NM_030956.3 NP_001017388.1|NP_001182036.1|NP_112218.2 Q9BXR5 TLR10_HUMAN toll-like receptor 10 499 inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway integral to membrane|plasma membrane transmembrane receptor activity breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(2) 25 GGCTGAGAATGAAGTTCATTT 0.378000 47 106 0 0 1 0 0 LRP1 4035 broad.mit.edu 37 12 57604541 57604541 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:57604541C>T ENST00000243077.3 + 83 13261 c.12795C>T c.(12793-12795)ccC>ccT p.P4265P NM_002332.2 NP_002323.2 Q07954 LRP1_HUMAN low density lipoprotein receptor-related protein 1 4265 EGF-like 18. aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity coated pit|integral to plasma membrane|nucleus apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 184 BRCA - Breast invasive adenocarcinoma(357;0.0103) Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031) TCACGGGCCCCAAATGCACCC 0.657000 53 89 0 0 1 0 0 HAO1 54363 broad.mit.edu 37 20 7915255 7915255 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr20:7915255C>T ENST00000378789.3 - 2 216 c.165G>A c.(163-165)cgG>cgA p.R55R NM_017545.2 NP_060015.1 Q9UJM8 HAOX1_HUMAN hydroxyacid oxidase (glycolate oxidase) 1 55 FMN hydroxy acid dehydrogenase. cellular nitrogen compound metabolic process|fatty acid alpha-oxidation|glycolate catabolic process|glyoxylate metabolic process peroxisomal matrix FMN binding|glycolate oxidase activity|glyoxylate oxidase activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 36 CAGCAACATTCCGGAGCATCC 0.413000 20 55 0 0 1 0 0 MAP7D1 55700 broad.mit.edu 37 1 36641854 36641854 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:36641854C>T ENST00000316156.4 + 6 1247 c.794C>T c.(793-795)aCg>aTg p.T265M MAP7D1_ENST00000373151.2_Missense_Mutation_p.T302M|MAP7D1_ENST00000373150.4_Missense_Mutation_p.T302M|MAP7D1_ENST00000474796.1_3'UTR Q3KQU3 MA7D1_HUMAN MAP7 domain containing 1 302 cytoplasm|spindle breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1) 19 Myeloproliferative disorder(586;0.0393) CGTCTGATGACGCCCACTCTC 0.687000 21 32 0 0 1 0 0 ATP6V0A4 50617 broad.mit.edu 37 7 138440508 138440508 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:138440508G>A ENST00000310018.2 - 10 1024 c.742C>T c.(742-744)Cct>Tct p.P248S ATP6V0A4_ENST00000393054.1_Missense_Mutation_p.P248S|ATP6V0A4_ENST00000353492.4_Missense_Mutation_p.P248S NM_020632.2|NM_130840.2 NP_065683.2|NP_570855.2 Q9HBG4 VPP4_HUMAN ATPase, H+ transporting, lysosomal V0 subunit a4 248 cellular iron ion homeostasis|excretion|insulin receptor signaling pathway|ossification|regulation of pH|sensory perception of sound|transferrin transport apical plasma membrane|brush border membrane|endosome membrane|integral to membrane|proton-transporting two-sector ATPase complex, proton-transporting domain ATPase binding|hydrogen ion transmembrane transporter activity NS(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 36 TCTGGGCAAGGGTAGACAGTG 0.502000 23 61 0 0 1 0 0 CENPL 91687 broad.mit.edu 37 1 173780340 173780340 + Nonsense_Mutation SNP G G T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:173780340G>T ENST00000356198.2 - 3 383 c.98C>A c.(97-99)tCg>tAg p.S33* CENPL_ENST00000367710.3_Nonsense_Mutation_p.S33*|CENPL_ENST00000345664.6_Nonsense_Mutation_p.S33* NM_001127181.2 NP_001120653.1 Q8N0S6 CENPL_HUMAN centromere protein L 33 mitotic prometaphase chromosome, centromeric region|cytosol|nucleus breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(3) 11 CTTCCTGACCGATTCTAATCG 0.458000 47 165 8.94452e-30 9.04901e-30 1 1 0 ZSCAN18 65982 broad.mit.edu 37 19 58596195 58596195 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:58596195C>T ENST00000240727.6 - 7 1789 c.1390G>A c.(1390-1392)Gag>Aag p.E464K ZSCAN18_ENST00000601144.1_Missense_Mutation_p.E464K|ZSCAN18_ENST00000600404.1_Missense_Mutation_p.E520K|ZSCAN18_ENST00000421612.2_Missense_Mutation_p.E328K NM_023926.4 NP_076415.3 Q8TBC5 ZSC18_HUMAN zinc finger and SCAN domain containing 18 464 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|skin(3) 19 Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.114)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152) TTCTCCTTCTCGTGGGTCTTC 0.706000 12 6 0 0 1 0 0 KCNJ5 3762 broad.mit.edu 37 11 128781711 128781711 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:128781711C>T ENST00000529694.1 + 2 919 c.543C>T c.(541-543)ttC>ttT p.F181F KCNJ5_ENST00000533599.1_Silent_p.F181F|KCNJ5_ENST00000338350.4_Silent_p.F181F NM_000890.3 NP_000881.3 P48544 IRK5_HUMAN potassium inwardly-rectifying channel, subfamily J, member 5 181 synaptic transmission voltage-gated potassium channel complex G-protein activated inward rectifier potassium channel activity|protein binding NS(1)|breast(1)|endometrium(4)|large_intestine(4)|liver(2)|lung(9)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 26 all_hematologic(175;0.0641) Lung NSC(97;0.00038)|all_lung(97;0.000817)|Breast(109;0.00123)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.0059)|LUSC - Lung squamous cell carcinoma(976;0.021)|Lung(977;0.0215) Glibenclamide(DB01016) TCAATGCCTTCATGGTGGGGT 0.537000 5 147 0 0 1 0 0 PXDN 7837 broad.mit.edu 37 2 1652161 1652161 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:1652161G>A ENST00000252804.4 - 17 3441 c.3391C>T c.(3391-3393)Ccc>Tcc p.P1131S NM_012293.1 NP_036425.1 Q92626 PXDN_HUMAN peroxidasin homolog (Drosophila) 1131 extracellular matrix organization|hydrogen peroxide catabolic process|immune response endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 112 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716) all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228) AGCTGCGAGGGCACACGCATT 0.627000 20 59 0 0 1 0 0 NME1 4830 broad.mit.edu 37 17 49237340 49237340 + Splice_Site SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:49237340G>A ENST00000511355.1 + 3 212 c.e3-1 NME1_ENST00000336097.3_Splice_Site|NME1_ENST00000013034.3_Splice_Site|NME2_ENST00000555572.1_Splice_Site|NME1_ENST00000480143.1_Splice_Site|NME2_ENST00000393193.2_Splice_Site|NME1_ENST00000393196.3_Splice_Site|NME2_ENST00000376392.6_Splice_Site NME/NM23 nucleoside diphosphate kinase 1 endometrium(1)|large_intestine(1)|lung(1) 3 BRCA - Breast invasive adenocarcinoma(22;1.54e-08) CTGTTGAATAGGCTTCCGAAG 0.468000 7 159 0 0 1 0 0 ITPRIPL1 150771 broad.mit.edu 37 2 96993745 96993745 + Missense_Mutation SNP G G A rs141148427 byFrequency TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:96993745G>A ENST00000361124.4 + 1 1811 c.1400G>A c.(1399-1401)cGg>cAg p.R467Q ITPRIPL1_ENST00000439118.2_Missense_Mutation_p.R459Q|ITPRIPL1_ENST00000542887.1_Missense_Mutation_p.R451Q|ITPRIPL1_ENST00000536814.1_Missense_Mutation_p.R451Q NM_178495.5 NP_848590.3 Q6GPH6 IPIL1_HUMAN inositol 1,4,5-trisphosphate receptor interacting protein-like 1 459 integral to membrane breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 CTCTTGCTACGGCTGCCCCTC 0.557000 57 126 0 0 1 0 0 CTC-260E6.6 0 broad.mit.edu 37 19 20369281 20369281 + RNA SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:20369281G>A ENST00000593655.1 - 0 199 GGCATAGTACGAAATTGGGAT 0.378000 57 142 0 0 1 0 0 SLC38A4 55089 broad.mit.edu 37 12 47173604 47173604 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:47173604G>A ENST00000447411.1 - 8 823 c.617C>T c.(616-618)tCt>tTt p.S206F SLC38A4_ENST00000266579.4_Missense_Mutation_p.S206F NM_001143824.1 NP_001137296.1 Q969I6 S38A4_HUMAN solute carrier family 38, member 4 206 cellular nitrogen compound metabolic process|sodium ion transport integral to membrane|plasma membrane amino acid transmembrane transporter activity|symporter activity NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|skin(1) 21 Lung SC(27;0.192)|Renal(347;0.236) AATTCCAACAGACACAAATAT 0.313000 19 42 0 0 1 0 0 USP1 7398 broad.mit.edu 37 1 62916199 62916199 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:62916199G>A ENST00000339950.4 + 9 2720 c.1905G>A c.(1903-1905)gtG>gtA p.V635V USP1_ENST00000371146.1_Silent_p.V635V NM_003368.4 NP_003359.3 O94782 UBP1_HUMAN ubiquitin specific peptidase 1 635 DNA repair|monoubiquitinated protein deubiquitination|regulation of DNA repair|response to UV|ubiquitin-dependent protein catabolic process nucleoplasm cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity breast(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|prostate(2)|stomach(1) 19 all_neural(321;0.0281) BRCA - Breast invasive adenocarcinoma(111;8.01e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00245)|OV - Ovarian serous cystadenocarcinoma(397;0.0535) CAAGGGGTGTGGTTGAGAATT 0.358000 22 53 0 0 1 0 0 DUSP10 11221 broad.mit.edu 37 1 221879678 221879678 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:221879678G>A ENST00000366899.3 - 3 1180 c.942C>T c.(940-942)acC>acT p.T314T DUSP10_ENST00000544095.1_5'UTR|DUSP10_ENST00000468085.1_5'UTR|DUSP10_ENST00000323825.3_5'UTR NM_007207.4 NP_009138.1 Q9Y6W6 DUS10_HUMAN dual specificity phosphatase 10 314 inactivation of MAPK activity|JNK cascade|negative regulation of JNK cascade|negative regulation of JUN kinase activity|negative regulation of stress-activated MAPK cascade Golgi apparatus|nucleus MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity NS(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 GBM - Glioblastoma multiforme(131;0.0103) CGATGTCAGGGGTGGTGGGGA 0.622000 54 137 0 0 1 0 0 SUGP2 10147 broad.mit.edu 37 19 19135713 19135713 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:19135713G>A ENST00000601879.1 - 3 1741 c.1444C>T c.(1444-1446)Ctt>Ttt p.L482F SUGP2_ENST00000600377.1_Missense_Mutation_p.L496F|SUGP2_ENST00000337018.6_Missense_Mutation_p.L482F|SUGP2_ENST00000456085.2_Missense_Mutation_p.L251F|SUGP2_ENST00000452918.2_Missense_Mutation_p.L482F Q8IX01 SUGP2_HUMAN SURP and G patch domain containing 2 482 mRNA processing|RNA splicing nucleus RNA binding NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 43 TGTCCCAAAAGGGCCAAAGAC 0.522000 108 164 0 0 1 0 0 SLC38A4 55089 broad.mit.edu 37 12 47172358 47172358 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:47172358G>A ENST00000447411.1 - 10 1125 c.919C>T c.(919-921)Cat>Tat p.H307Y SLC38A4_ENST00000266579.4_Missense_Mutation_p.H307Y NM_001143824.1 NP_001137296.1 Q969I6 S38A4_HUMAN solute carrier family 38, member 4 307 cellular nitrogen compound metabolic process|sodium ion transport integral to membrane|plasma membrane amino acid transmembrane transporter activity|symporter activity NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|skin(1) 21 Lung SC(27;0.192)|Renal(347;0.236) CCACTGTCATGAAGAGAGCCC 0.478000 38 65 0 0 1 0 0 C9orf131 138724 broad.mit.edu 37 9 35044640 35044640 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:35044640G>A ENST00000312292.5 + 2 2061 c.2014G>A c.(2014-2016)Gag>Aag p.E672K C9orf131_ENST00000354479.5_Missense_Mutation_p.E599K|C9orf131_ENST00000421362.2_Missense_Mutation_p.E624K NM_001040410.1|NM_203299.2 NP_001035500.1|NP_976044.2 Q5VYM1 CI131_HUMAN chromosome 9 open reading frame 131 672 cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(23)|prostate(2)|skin(2)|stomach(1) 39 all_epithelial(49;0.22) LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309) GCCTGACGGGGAGGCAGTGGA 0.542000 41 71 0 0 1 0 0 PLCZ1 89869 broad.mit.edu 37 12 18876332 18876332 + Nonsense_Mutation SNP G G A rs138801851 TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:18876332G>A ENST00000266505.7 - 4 543 c.280C>T c.(280-282)Caa>Taa p.Q94* PLCZ1_ENST00000539875.1_Intron|RP11-361I14.2_ENST00000536931.1_RNA|PLCZ1_ENST00000447925.2_Nonsense_Mutation_p.Q92*|PLCZ1_ENST00000435379.1_Intron Q86YW0 PLCZ1_HUMAN phospholipase C, zeta 1 94 intracellular signal transduction|lipid catabolic process|multicellular organismal development nucleus|perinuclear region of cytoplasm calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1) 31 Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241) GTCAGAAATTGAGCCAGATTA 0.343000 28 54 0 0 1 0 0 PKHD1L1 93035 broad.mit.edu 37 8 110454359 110454359 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:110454359C>T ENST00000378402.5 + 35 4432 c.4328C>T c.(4327-4329)tCc>tTc p.S1443F NM_177531.4 NP_803875.2 Q86WI1 PKHL1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 1443 IPT/TIG 7. immune response cytosol|extracellular space|integral to membrane receptor activity NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4) 263 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) TTTTCTGTCTCCAGTCCTGGA 0.423000 HNSCC(38;0.096) 23 58 0 0 1 0 0 C7orf63 79846 broad.mit.edu 37 7 89938589 89938589 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:89938589C>T ENST00000389297.4 + 22 2814 c.2563C>T c.(2563-2565)Ctt>Ttt p.L855F C7orf63_ENST00000316089.8_Missense_Mutation_p.L809F|C7orf63_ENST00000497910.1_Missense_Mutation_p.L837F NM_001039706.2|NM_001160138.1 NP_001034795.2|NP_001153610.1 A5D8W1 CG063_HUMAN chromosome 7 open reading frame 63 855 binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|prostate(3) 37 AGCAAAAAGCCTTCAAGAAAA 0.294000 10 140 0 0 1 0 0 TPO 7173 broad.mit.edu 37 2 1418243 1418243 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:1418243C>T ENST00000345913.4 + 2 154 c.63C>T c.(61-63)ccC>ccT p.P21P TPO_ENST00000337415.3_Silent_p.P21P|TPO_ENST00000497517.2_Intron|TPO_ENST00000329066.4_Silent_p.P21P|TPO_ENST00000539820.1_Silent_p.P21P|TPO_ENST00000382201.3_Silent_p.P21P|TPO_ENST00000382269.3_Silent_p.P21P|TPO_ENST00000349624.3_Silent_p.P21P|TPO_ENST00000346956.3_Silent_p.P21P|TPO_ENST00000382198.1_Silent_p.P21P NM_000547.5 NP_000538.3 P07202 PERT_HUMAN thyroid peroxidase 21 cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process cell surface|cytoplasm|integral to plasma membrane calcium ion binding|heme binding|iodide peroxidase activity breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627) all_cancers(51;0.0338) all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12) Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550) CCTTCTTCCCCTTCATCTCGA 0.448000 16 37 0 0 1 0 0 CAPSL 133690 broad.mit.edu 37 5 35910488 35910488 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:35910488C>T ENST00000397367.2 - 3 421 c.295G>A c.(295-297)Gaa>Aaa p.E99K CAPSL_ENST00000514524.1_Missense_Mutation_p.E99K|CAPSL_ENST00000397366.1_Missense_Mutation_p.E99K NM_144647.3 NP_653248.3 Q8WWF8 CAPSL_HUMAN calcyphosine-like 99 EF-hand 2. cytoplasm calcium ion binding central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(10)|skin(1)|urinary_tract(1) 19 all_lung(31;0.000268) Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.167)|Colorectal(62;0.202) AGAAGAAATTCATTGAAGTCT 0.393000 33 116 0 0 1 0 0 ENPEP 2028 broad.mit.edu 37 4 111430816 111430816 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:111430816C>T ENST00000265162.5 + 5 1389 c.1047C>T c.(1045-1047)atC>atT p.I349I NM_001977.3 NP_001968.3 Q07075 AMPE_HUMAN glutamyl aminopeptidase (aminopeptidase A) 349 cell migration|cell proliferation|cell-cell signaling|proteolysis integral to plasma membrane aminopeptidase activity|metalloexopeptidase activity|zinc ion binding breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1) 54 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.0031) L-Glutamic Acid(DB00142) TAGATAAAATCGCTATTCCAG 0.378000 10 89 0 0 1 0 0 HTR3D 200909 broad.mit.edu 37 3 183755916 183755916 + Missense_Mutation SNP A A T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:183755916A>T ENST00000382489.3 + 6 768 c.768A>T c.(766-768)gaA>gaT p.E256D HTR3D_ENST00000428798.2_Missense_Mutation_p.E208D|HTR3D_ENST00000334128.2_Missense_Mutation_p.E83D|HTR3D_ENST00000453435.1_Missense_Mutation_p.E37D NM_001163646.1 NP_001157118.1 Q70Z44 5HT3D_HUMAN 5-hydroxytryptamine (serotonin) receptor 3D, ionotropic 256 integral to membrane|plasma membrane extracellular ligand-gated ion channel activity|receptor activity large_intestine(3)|lung(3)|prostate(1)|skin(1)|stomach(2) 10 all_cancers(143;2.33e-10)|Ovarian(172;0.0303) Epithelial(37;6.23e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22) TGCCACTGGAAAGTGGGAATT 0.542000 30 92 0 0 1 0 0 GLI1 2735 broad.mit.edu 37 12 57857781 57857781 + Splice_Site SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:57857781G>A ENST00000228682.2 + 3 191 c.e3-1 GLI1_ENST00000546141.1_Intron|GLI1_ENST00000543426.1_Intron NM_005269.2 NP_005260.1 P08151 GLI1_HUMAN GLI family zinc finger 1 epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter cytosol|nucleus transcription regulatory region DNA binding|zinc ion binding NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 69 GBM - Glioblastoma multiforme(3;3.99e-32) CTTTTTTCTAGGACTGTCTGG 0.542000 128 272 0 0 1 0 0 WRAP73 49856 broad.mit.edu 37 1 3551779 3551779 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:3551779G>A ENST00000378322.3 - 7 741 c.683C>T c.(682-684)tCt>tTt p.S228F WRAP73_ENST00000270708.7_Missense_Mutation_p.S228F Q9P2S5 WRP73_HUMAN WD repeat containing, antisense to TP73 228 centrosome protein binding endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|pancreas(1) 12 CCAGGCCACAGACTTGATGCC 0.567000 28 70 0 0 1 0 0 SCARA5 286133 broad.mit.edu 37 8 27845065 27845065 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:27845065G>A ENST00000354914.3 - 2 553 c.68C>T c.(67-69)tCc>tTc p.S23F SCARA5_ENST00000301906.4_Missense_Mutation_p.S23F|SCARA5_ENST00000518030.1_Missense_Mutation_p.S23F|SCARA5_ENST00000380385.2_Missense_Mutation_p.S23F|SCARA5_ENST00000524352.1_Missense_Mutation_p.S23F NM_173833.5 NP_776194.2 Q6ZMJ2 SCAR5_HUMAN scavenger receptor class A, member 5 (putative) 23 cellular iron ion homeostasis|endocytosis|iron ion transmembrane transport|protein homotrimerization integral to plasma membrane ferritin receptor activity|scavenger receptor activity central_nervous_system(1)|large_intestine(6)|lung(5)|prostate(3)|skin(3) 18 Ovarian(32;0.0218) UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)|Colorectal(74;0.228) GCCATCAAAGGAATCCTCACA 0.562000 57 138 0 0 1 0 0 DFNB31 25861 broad.mit.edu 37 9 117168831 117168831 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:117168831G>A ENST00000362057.3 - 9 2208 c.2040C>T c.(2038-2040)ttC>ttT p.F680F DFNB31_ENST00000374059.3_Silent_p.F329F|DFNB31_ENST00000265134.6_Silent_p.F297F NM_001173425.1|NM_015404.3 NP_001166896.1|NP_056219.3 Q9P202 WHRN_HUMAN deafness, autosomal recessive 31 680 Pro-rich. inner ear receptor stereocilium organization|retina homeostasis|sensory perception of light stimulus|sensory perception of sound cytoplasm|growth cone|stereocilium central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|ovary(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 GGACCCGTGGGAAGGGGCCGA 0.677000 37 84 0 0 1 0 0 NXNL1 115861 broad.mit.edu 37 19 17571363 17571363 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:17571363C>T ENST00000301944.2 - 1 400 c.316G>A c.(316-318)Gat>Aat p.D106N CTD-2521M24.10_ENST00000594663.1_Missense_Mutation_p.D13N NM_138454.1 NP_612463.1 Q96CM4 NXNL1_HUMAN nucleoredoxin-like 1 106 Thioredoxin. cell redox homeostasis nuclear outer membrane central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1) 6 CTCCTCAGATCATCCTCAAAG 0.572000 24 51 0 0 1 0 0 AIRE 326 broad.mit.edu 37 21 45708281 45708281 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr21:45708281G>A ENST00000291582.5 + 5 719 c.592G>A c.(592-594)Gac>Aac p.D198N NM_000383.3 NP_000374.1 O43918 AIRE_HUMAN autoimmune regulator 198 SAND. positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus chromatin binding|histone binding|transcription regulatory region DNA binding|translation regulator activity|zinc ion binding breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|skin(2)|urinary_tract(1) 14 Colorectal(79;0.0806) GTCCTCCGGGGACGTCCCGGG 0.632000 Autoimmune PolyEndocrinopathy Candidiasis Ectodermal Dystrophy 50 89 0 0 1 0 0 CSMD1 64478 broad.mit.edu 37 8 3087637 3087637 + Nonsense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:3087637G>A ENST00000602557.1 - 28 4828 c.4273C>T c.(4273-4275)Caa>Taa p.Q1425* CSMD1_ENST00000602723.1_Nonsense_Mutation_p.Q1425*|CSMD1_ENST00000537824.1_Nonsense_Mutation_p.Q1424*|CSMD1_ENST00000400186.3_Nonsense_Mutation_p.Q1425*|CSMD1_ENST00000539096.1_Nonsense_Mutation_p.Q1424*|CSMD1_ENST00000523387.1_5'UTR|CSMD1_ENST00000542608.1_Nonsense_Mutation_p.Q1424*|CSMD1_ENST00000520002.1_Nonsense_Mutation_p.Q1425* Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 1425 Sushi 8. integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) GCTTGTCCTTGGAGCTGATAG 0.502000 25 42 0 0 1 0 0 RPS6KA4 8986 broad.mit.edu 37 11 64138850 64138850 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:64138850C>T ENST00000528057.1 + 17 2284 c.2196C>T c.(2194-2196)acC>acT p.T732T RPS6KA4_ENST00000294261.4_Silent_p.T491T|RPS6KA4_ENST00000334205.4_Silent_p.T739T NM_001006944.1 NP_001006945.1 O75676 KS6A4_HUMAN ribosomal protein S6 kinase, 90kDa, polypeptide 4 739 axon guidance|histone phosphorylation|interleukin-1-mediated signaling pathway|intracellular protein kinase cascade|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus ATP binding|magnesium ion binding|mitogen-activated protein kinase p38 binding|ribosomal protein S6 kinase activity breast(1)|endometrium(3)|lung(7)|ovary(1)|prostate(1) 13 GGAGCGCCACCGCCTCCCGCC 0.736000 7 77 0 0 1 0 0 PCDHA7 56141 broad.mit.edu 37 5 140214053 140214053 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:140214053G>A ENST00000525929.1 + 1 85 c.85G>A c.(85-87)Ggc>Agc p.G29S PCDHA7_ENST00000378125.3_Missense_Mutation_p.G29S|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron NM_018910.2 NP_061733.1 NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 63 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGCAGGGAGAGGCCAGCTCCA 0.587000 80 108 0 0 1 0 0 SHANK2 22941 broad.mit.edu 37 11 70333086 70333086 + Silent SNP G G A rs141260875 TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:70333086G>A ENST00000338508.4 - 32 3314 c.3315C>T c.(3313-3315)tcC>tcT p.S1105S SHANK2_ENST00000423696.2_Silent_p.S725S|SHANK2_ENST00000409161.1_Silent_p.S508S|SHANK2_ENST00000449833.2_Silent_p.S509S Q9UPX8 SHAN2_HUMAN SH3 and multiple ankyrin repeat domains 2 725 intracellular signal transduction cell junction|cytoplasm|postsynaptic density|postsynaptic membrane GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 62 LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071) CCAGGTCTGTGGAGAGGAAGG 0.701000 37 64 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179426896 179426896 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:179426896C>T ENST00000589042.1 - 326 84187 c.83963G>A c.(83962-83964)gGa>gAa p.G27988E TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G19048E|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.G26347E|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G25420E|TTN_ENST00000460472.2_Missense_Mutation_p.G18923E|TTN_ENST00000342175.6_Missense_Mutation_p.G19115E|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 26347 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TTGAGGTCTTCCTTTGAATGG 0.373000 9 31 0 0 1 0 0 SHANK2 22941 broad.mit.edu 37 11 70333232 70333232 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:70333232C>T ENST00000338508.4 - 32 3168 c.3169G>A c.(3169-3171)Gac>Aac p.D1057N SHANK2_ENST00000423696.2_Missense_Mutation_p.D677N|SHANK2_ENST00000409161.1_Missense_Mutation_p.D460N|SHANK2_ENST00000449833.2_Missense_Mutation_p.D461N Q9UPX8 SHAN2_HUMAN SH3 and multiple ankyrin repeat domains 2 677 intracellular signal transduction cell junction|cytoplasm|postsynaptic density|postsynaptic membrane GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 62 LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071) GCCTGGGGGTCGATCTCCATG 0.692000 58 117 0 0 1 0 0 CEP290 80184 broad.mit.edu 37 12 88479925 88479925 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:88479925G>A ENST00000552810.1 - 34 4671 c.4328C>T c.(4327-4329)cCt>cTt p.P1443L CEP290_ENST00000397838.3_Missense_Mutation_p.P503L|CEP290_ENST00000547691.2_Missense_Mutation_p.P503L|CEP290_ENST00000309041.7_Missense_Mutation_p.P1445L NM_025114.3 NP_079390.3 O15078 CE290_HUMAN centrosomal protein 290kDa 1443 cilium assembly|eye photoreceptor cell development|G2/M transition of mitotic cell cycle|hindbrain development|otic vesicle formation|positive regulation of transcription, DNA-dependent|pronephros development|protein transport cell surface|centrosome|cytosol|nucleus|photoreceptor connecting cilium protein binding breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1) 73 ACTAGGGTCAGGGATTGATCC 0.353000 16 53 0 0 1 0 0 OR52E6 390078 broad.mit.edu 37 11 5862275 5862275 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:5862275G>A ENST00000329322.5 - 1 852 c.853C>T c.(853-855)Cct>Tct p.P285S OR52E6_ENST00000379946.2_Missense_Mutation_p.P289S|TRIM5_ENST00000380027.1_Intron NM_001005167.1 NP_001005167.1 Q96RD3 O52E6_HUMAN olfactory receptor, family 52, subfamily E, member 6 285 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.P289S(1) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 27 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;2.55e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) AGGGTGGGAGGAACAACCACA 0.408000 41 36 0 0 1 0 0 ST18 9705 broad.mit.edu 37 8 53025833 53025833 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:53025833C>T ENST00000276480.7 - 26 3752 c.3069G>A c.(3067-3069)ctG>ctA p.L1023L NM_014682.2 NP_055497.1 O60284 ST18_HUMAN suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein) 1023 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 85 Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229) AGTCCCGTTCCAGATTGCTGT 0.453000 43 85 0 0 1 0 0 C1orf226 400793 broad.mit.edu 37 1 162353431 162353431 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:162353431C>T ENST00000458626.2 + 2 949 c.777C>T c.(775-777)ctC>ctT p.L259L C1orf226_ENST00000426197.2_Silent_p.L302L NM_001085375.1 NP_001078844.1 A1L170 CA226_HUMAN chromosome 1 open reading frame 226 259 p.L302L(2) central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|upper_aerodigestive_tract(1) 12 CCTCCAGCCTCGACAATGAGG 0.587000 13 20 0 0 1 0 0 AKAP11 11215 broad.mit.edu 37 13 42874323 42874323 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr13:42874323C>T ENST00000025301.2 + 8 1616 c.1441C>T c.(1441-1443)Cat>Tat p.H481Y NM_016248.3 NP_057332.1 Q9UKA4 AKA11_HUMAN A kinase (PRKA) anchor protein 11 481 intracellular protein kinase cascade microtubule organizing center protein kinase A binding|protein phosphatase 1 binding breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(2) 56 Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114) OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19) TCATGAAAATCATGATTCTGT 0.388000 48 106 0 0 1 0 0 TRBV7-7 28591 broad.mit.edu 37 7 142119915 142119915 + RNA SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:142119915G>A ENST00000390377.1 - 0 251 TCTCTGCAGAGAACCGATCAC 0.542000 39 177 0 0 1 0 0 DUOX1 53905 broad.mit.edu 37 15 45427437 45427437 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr15:45427437G>A ENST00000321429.4 + 6 850 c.443G>A c.(442-444)aGa>aAa p.R148K DUOX1_ENST00000389037.3_Missense_Mutation_p.R148K NM_017434.3 NP_059130.2 Q9NRD9 DUOX1_HUMAN dual oxidase 1 148 Peroxidase-like; mediates peroxidase activity. cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation apical plasma membrane|integral to membrane calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|NADP binding|peroxidase activity breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1) 57 all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027) all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717) CCCTTCCAGAGAAGCCGCTGG 0.721000 12 57 0 0 1 0 0 MEGF10 84466 broad.mit.edu 37 5 126778722 126778722 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:126778722C>T ENST00000274473.6 + 20 2662 c.2395C>T c.(2395-2397)Cgc>Tgc p.R799C MEGF10_ENST00000503335.2_Missense_Mutation_p.R799C NM_032446.2 NP_115822.1 Q96KG7 MEG10_HUMAN multiple EGF-like-domains 10 799 EGF-like 15.|Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern. cell adhesion|phagocytosis basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 68 Prostate(80;0.165) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123) CTATGGCTGTCGCCAGATATG 0.502000 33 59 0 0 1 0 0 AGAP3 116988 broad.mit.edu 37 7 150813919 150813919 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:150813919C>T ENST00000397238.2 + 2 371 c.371C>T c.(370-372)tCc>tTc p.S124F AGAP3_ENST00000479901.1_Missense_Mutation_p.S124F|AGAP3_ENST00000476375.1_3'UTR|AGAP3_ENST00000473312.1_Missense_Mutation_p.S124F|AGAP3_ENST00000335367.3_Missense_Mutation_p.S304F|AGAP3_ENST00000463381.1_5'UTR NM_031946.4 NP_114152.3 Q96P47 AGAP3_HUMAN ArfGAP with GTPase domain, ankyrin repeat and PH domain 3 88 Small GTPase-like. regulation of ARF GTPase activity|small GTPase mediated signal transduction cytoplasm|membrane ARF GTPase activator activity|GTP binding|GTPase activity|zinc ion binding central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|liver(2)|lung(9)|ovary(2)|prostate(3)|urinary_tract(1) 28 CTGAGCCGCTCCGTACCGGAG 0.677000 66 183 0 0 1 0 0 ACMSD 130013 broad.mit.edu 37 2 135596255 135596255 + Translation_Start_Site SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:135596255G>A ENST00000356140.5 + 1 139 c.3G>A c.(1-3)atG>atA p.M1I AC016725.4_ENST00000392929.2_RNA|ACMSD_ENST00000392928.1_5'UTR|ACMSD_ENST00000283054.4_5'UTR NM_138326.2 NP_612199.2 Q8TDX5 ACMSD_HUMAN aminocarboxymuconate semialdehyde decarboxylase 1 quinolinate metabolic process|tryptophan catabolic process cytosol aminocarboxymuconate-semialdehyde decarboxylase activity|metal ion binding endometrium(3)|large_intestine(4)|lung(6)|skin(1) 14 BRCA - Breast invasive adenocarcinoma(221;0.115) CTGTGGAGATGAAAATTGACA 0.348000 32 44 0 0 1 0 0 OR4C12 283093 broad.mit.edu 37 11 50003543 50003543 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:50003543G>A ENST00000335238.4 - 1 528 c.495C>T c.(493-495)ccC>ccT p.P165P NM_001005270.2 NP_001005270.1 Q96R67 OR4CC_HUMAN olfactory receptor, family 4, subfamily C, member 12 165 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|kidney(4)|large_intestine(3)|liver(1)|lung(19)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 36 GGCCACAGAAGGGCAGCCATA 0.478000 86 133 0 0 1 0 0 ASMT 438 broad.mit.edu 37 X 1743174 1743174 + Missense_Mutation SNP A A T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chrX:1743174A>T ENST00000381241.3 + 3 456 c.257A>T c.(256-258)aAc>aTc p.N86I ASMT_ENST00000381229.4_Missense_Mutation_p.N86I|ASMT_ENST00000381233.3_Missense_Mutation_p.N86I NM_001171038.1|NM_004043.2 NP_001164509.1|NP_004034.2 P46597 HIOM_HUMAN acetylserotonin O-methyltransferase 86 melatonin biosynthetic process|translation cytosol acetylserotonin O-methyltransferase activity|S-methyltransferase activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|skin(1) 16 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) TTCTATCGAAACACAGAGCTG 0.552000 238 133 0 0 1 0 0 KRT77 374454 broad.mit.edu 37 12 53097193 53097193 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:53097193G>A ENST00000341809.3 - 1 54 c.26C>T c.(25-27)tCc>tTc p.S9F KRT77_ENST00000537195.1_5'UTR NM_175078.2 NP_778253.2 Q7Z794 K2C1B_HUMAN keratin 77 9 Head. keratin filament structural molecule activity NS(2)|endometrium(2)|large_intestine(3)|lung(11)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2) 25 ACTAAACGCGGACTGAGAACT 0.542000 26 64 0 0 1 0 0 RGS7 6000 broad.mit.edu 37 1 241032153 241032153 + Splice_Site SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:241032153C>T ENST00000366565.1 - 8 832 c.e8-1 RGS7_ENST00000366563.1_Splice_Site|RGS7_ENST00000401882.1_Splice_Site|RGS7_ENST00000331110.7_Splice_Site|RGS7_ENST00000446183.2_Splice_Site|RGS7_ENST00000348120.2_Splice_Site|RGS7_ENST00000366564.1_Splice_Site|RGS7_ENST00000407727.1_Splice_Site|RGS7_ENST00000366562.4_Splice_Site NM_002924.4 NP_002915.3 P49802 RGS7_HUMAN regulator of G-protein signaling 7 G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway cytoplasm|heterotrimeric G-protein complex GTPase activator activity|protein binding|signal transducer activity breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 76 all_cancers(173;0.0131) OV - Ovarian serous cystadenocarcinoma(106;0.027) CCAGGCTCTCCTGAAAAACAT 0.458000 64 118 0 0 1 0 0 ATP1B4 23439 broad.mit.edu 37 X 119500416 119500416 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chrX:119500416G>A ENST00000218008.3 + 2 157 c.100G>A c.(100-102)Gat>Aat p.D34N ATP1B4_ENST00000361319.3_Missense_Mutation_p.D34N|ATP1B4_ENST00000539306.1_Missense_Mutation_p.D34N NM_001142447.2 NP_001135919.1 Q9UN42 AT1B4_HUMAN ATPase, Na+/K+ transporting, beta 4 polypeptide 34 ATP biosynthetic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent integral to plasma membrane|nuclear inner membrane sodium:potassium-exchanging ATPase activity breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1) 33 CTACTTAGCAGATGAAGAGGA 0.488000 49 18 0 0 1 0 0 SIGLEC5 8778 broad.mit.edu 37 19 52130843 52130843 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:52130843G>A ENST00000222107.4 - 6 1292 c.1154C>T c.(1153-1155)tCc>tTc p.S385F SIGLEC5_ENST00000534261.2_Missense_Mutation_p.S385F|SIGLEC5_ENST00000570106.2_Missense_Mutation_p.S385F|SIGLEC5_ENST00000599649.1_Missense_Mutation_p.S385F|SIGLEC5_ENST00000429354.3_Missense_Mutation_p.S385F O15389 SIGL5_HUMAN sialic acid binding Ig-like lectin 5 385 cell adhesion integral to membrane sugar binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|large_intestine(4)|lung(9)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 27 all_neural(266;0.0726) GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0218) AGCTGAGCTGGAGTTGACCTT 0.647000 33 65 0 0 1 0 0 MAGEB6 158809 broad.mit.edu 37 X 26212733 26212733 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chrX:26212733C>T ENST00000379034.1 + 2 919 c.770C>T c.(769-771)tCc>tTc p.S257F NM_173523.2 NP_775794.2 Q8N7X4 MAGB6_HUMAN melanoma antigen family B, 6 257 MAGE. breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2) 33 GAAATGGATTCCAGCGGCGAG 0.532000 48 28 0 0 1 0 0 TIMD4 91937 broad.mit.edu 37 5 156381609 156381609 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:156381609C>T ENST00000274532.2 - 2 273 c.217G>A c.(217-219)Gga>Aga p.G73R TIMD4_ENST00000407087.3_Missense_Mutation_p.G73R NM_138379.2 NP_612388.2 Q96H15 TIMD4_HUMAN T-cell immunoglobulin and mucin domain containing 4 73 Ig-like V-type. integral to membrane NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(23)|ovary(2)|skin(2) 37 Renal(175;0.00488) Medulloblastoma(196;0.0523)|all_neural(177;0.21) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) ACCCTCATTCCATCAGTGCGG 0.517000 41 85 0 0 1 0 0 HOXA2 3199 broad.mit.edu 37 7 27142001 27142001 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:27142001G>A ENST00000222718.5 - 1 429 c.119C>T c.(118-120)tCg>tTg p.S40L NM_006735.3 NP_006726.1 O43364 HXA2_HUMAN homeobox A2 40 nucleus sequence-specific DNA binding transcription factor activity breast(3)|cervix(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(1) 22 TGAAAGCGTCGAGGTCTTGAT 0.562000 9 134 0 0 1 0 0 CLDN17 26285 broad.mit.edu 37 21 31538635 31538635 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr21:31538635C>T ENST00000286808.3 - 1 336 c.301G>A c.(301-303)Ggc>Agc p.G101S NM_012131.2 NP_036263.1 P56750 CLD17_HUMAN claudin 17 101 calcium-independent cell-cell adhesion|tight junction assembly Golgi apparatus|integral to membrane|tight junction identical protein binding|structural molecule activity NS(1)|breast(1)|endometrium(2)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1) 23 TGCTTCATGCCACAGATGCCA 0.567000 15 101 0 0 1 0 0 CBLB 868 broad.mit.edu 37 3 105456071 105456071 + Missense_Mutation SNP G G T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:105456071G>T ENST00000264122.4 - 8 1336 c.1015C>A c.(1015-1017)Cct>Act p.P339T CBLB_ENST00000545639.1_3'UTR|CBLB_ENST00000405772.1_Missense_Mutation_p.P339T|CBLB_ENST00000394027.3_Missense_Mutation_p.P361T|CBLB_ENST00000403724.1_Missense_Mutation_p.P339T NM_170662.3 NP_733762.2 Q13191 CBLB_HUMAN Cbl proto-oncogene B, E3 ubiquitin protein ligase 339 Cbl-PTB.|SH2-like. cell surface receptor linked signaling pathway|NLS-bearing substrate import into nucleus cytoplasm|nucleus calcium ion binding|ligase activity|signal transducer activity|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(2)|urinary_tract(2) 49 GTTAAATCAGGATTATAACTC 0.274000 Mis S AML 33 65 4.11147e-13 4.14207e-13 1 1 0 SYNE1 23345 broad.mit.edu 37 6 152647763 152647763 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:152647763G>A ENST00000367255.5 - 79 15562 c.14961C>T c.(14959-14961)acC>acT p.T4987T SYNE1_ENST00000265368.4_Silent_p.T4987T|SYNE1_ENST00000423061.1_Silent_p.T4916T|SYNE1_ENST00000448038.1_Silent_p.T4916T|SYNE1_ENST00000341594.5_Silent_p.T4734T NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 4987 cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19) 524 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) TTTCAGTCAAGGTAGCCTGAA 0.403000 HNSCC(10;0.0054) 34 13 0 0 1 0 0 OR4K5 79317 broad.mit.edu 37 14 20388793 20388793 + Missense_Mutation SNP T T G TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr14:20388793T>G ENST00000315915.4 + 1 53 c.28T>G c.(28-30)Tct>Gct p.S10A NM_001005483.1 NP_001005483.1 Q8NGD3 OR4K5_HUMAN olfactory receptor, family 4, subfamily K, member 5 10 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1) 47 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) TTCAGTGGTGTCTGAATTTGT 0.363000 41 87 0 0 1 0 0 CDH12 1010 broad.mit.edu 37 5 21760714 21760714 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:21760714G>A ENST00000382254.1 - 13 2672 c.1586C>T c.(1585-1587)tCa>tTa p.S529L CDH12_ENST00000504376.2_Missense_Mutation_p.S529L|CDH12_ENST00000522262.1_Missense_Mutation_p.S489L|CDH12_ENST00000521384.1_5'UTR|RP11-804N13.1_ENST00000522350.1_RNA NM_004061.3 NP_004052.2 P55289 CAD12_HUMAN cadherin 12, type 2 (N-cadherin 2) 529 Cadherin 5. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 120 AGCCTCAGGTGATAATCTAAA 0.383000 HNSCC(59;0.17) 73 48 0 0 1 0 0 SCN2A 6326 broad.mit.edu 37 2 166245725 166245725 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:166245725G>A ENST00000375437.2 + 27 5699 c.5409G>A c.(5407-5409)gaG>gaA p.E1803E SCN2A_ENST00000375427.2_Silent_p.E1803E|SCN2A_ENST00000357398.3_Silent_p.E1803E|SCN2A_ENST00000283256.6_Silent_p.E1803E NM_001040142.1 NP_001035232.1 Q99250 SCN2A_HUMAN sodium channel, voltage-gated, type II, alpha subunit 1803 myelination node of Ranvier|voltage-gated sodium channel complex voltage-gated sodium channel activity NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 118 Lamotrigine(DB00555) AGGTTTGGGAGAAGTTTGATC 0.458000 46 114 0 0 1 0 0 SNX24 28966 broad.mit.edu 37 5 122181348 122181348 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:122181348C>T ENST00000261369.4 + 1 205 c.20C>T c.(19-21)tCc>tTc p.S7F SNX24_ENST00000511211.1_Intron|SNX24_ENST00000513881.1_Missense_Mutation_p.S7F|SNX24_ENST00000395451.4_Missense_Mutation_p.S7F|SNX24_ENST00000506996.1_Missense_Mutation_p.S7F NM_014035.2 NP_054754.1 Q9Y343 SNX24_HUMAN sorting nexin 24 7 PX. cell communication|protein transport cytoplasmic vesicle membrane phosphatidylinositol binding lung(5) 5 Prostate(80;0.0387) KIRC - Kidney renal clear cell carcinoma(527;0.0897)|Kidney(363;0.137) OV - Ovarian serous cystadenocarcinoma(64;0.000654)|Epithelial(69;0.0016)|all cancers(49;0.0139) TACATCCCGTCCTTTCGCTAT 0.766000 12 17 0 0 1 0 0 ARMC5 79798 broad.mit.edu 37 16 31471177 31471177 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr16:31471177C>T ENST00000457010.2 + 1 1033 c.332C>T c.(331-333)cCc>cTc p.P111L ARMC5_ENST00000563544.1_Missense_Mutation_p.P111L|ARMC5_ENST00000538189.1_Missense_Mutation_p.P143L|ARMC5_ENST00000268314.4_Missense_Mutation_p.P111L|ARMC5_ENST00000408912.3_Missense_Mutation_p.P206L NM_024742.2 NP_079018.1 Q96C12 ARMC5_HUMAN armadillo repeat containing 5 111 binding central_nervous_system(1)|endometrium(4)|large_intestine(3)|liver(2)|lung(12)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 28 ggccccgcccccTCCGCTGTG 0.741000 15 22 0 0 1 0 0 DPPA2 151871 broad.mit.edu 37 3 109028056 109028056 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:109028056C>T ENST00000478945.1 - 4 549 c.303G>A c.(301-303)cgG>cgA p.R101R NM_138815.3 NP_620170.3 Q7Z7J5 DPPA2_HUMAN developmental pluripotency associated 2 101 SAP. nucleus nucleic acid binding breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 GACACCAGTCCCGCAAAGTGT 0.448000 115 209 0 0 1 0 0 LPHN2 23266 broad.mit.edu 37 1 82416166 82416166 + Splice_Site SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:82416166G>A ENST00000370728.1 + 9 2137 c.1492_splice c.e9+1 p.G498_splice LPHN2_ENST00000335786.5_Splice_Site_p.G498_splice|LPHN2_ENST00000271029.4_Splice_Site_p.G498_splice|LPHN2_ENST00000394879.1_Splice_Site_p.G498_splice|LPHN2_ENST00000370713.1_Splice_Site_p.G498_splice|LPHN2_ENST00000370717.2_Splice_Site_p.G498_splice|LPHN2_ENST00000370730.1_Splice_Site_p.G498_splice|LPHN2_ENST00000370723.1_Splice_Site_p.G498_splice|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000370727.1_Splice_Site_p.G498_splice|LPHN2_ENST00000370715.1_Splice_Site_p.G498_splice|LPHN2_ENST00000370725.1_Splice_Site_p.G498_splice|LPHN2_ENST00000359929.3_Splice_Site_p.G498_splice|LPHN2_ENST00000370721.1_Splice_Site_p.G436_splice|LPHN2_ENST00000319517.6_Splice_Site_p.G498_splice O95490 LPHN2_HUMAN latrophilin 2 498 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 119 all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248) GGGAACAAGAGGTATTTTCTA 0.388000 18 50 0 0 1 0 0 OR4D2 124538 broad.mit.edu 37 17 56247655 56247655 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:56247655C>T ENST00000545221.1 + 1 639 c.639C>T c.(637-639)ctC>ctT p.L213L NM_001004707.3 NP_001004707.1 P58180 OR4D2_HUMAN olfactory receptor, family 4, subfamily D, member 2 213 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|kidney(1)|large_intestine(1)|lung(19)|ovary(1)|skin(2)|stomach(1) 26 GGTTCTTCCTCCTCCTGATGT 0.542000 49 113 0 0 1 0 0 OBSCN 84033 broad.mit.edu 37 1 228462004 228462004 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:228462004C>T ENST00000570156.2 + 23 6741 c.6667C>T c.(6667-6669)Ctt>Ttt p.L2223F OBSCN_ENST00000284548.11_Missense_Mutation_p.L1848F|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000422127.1_Missense_Mutation_p.L1848F|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000359599.6_Missense_Mutation_p.L695F|RP5-1139B12.2_ENST00000602517.1_RNA NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 1206 Ig-like 22. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) CAACACGCAGCTTCGGGTGGG 0.682000 78 76 0 0 1 0 0 DNAH8 1769 broad.mit.edu 37 6 38905782 38905782 + Missense_Mutation SNP G G T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:38905782G>T ENST00000359357.3 + 76 11199 c.10945G>T c.(10945-10947)Gta>Tta p.V3649L DNAH8_ENST00000441566.1_Missense_Mutation_p.V3613L|DNAH8_ENST00000449981.2_Missense_Mutation_p.V3866L|RP1-207H1.3_ENST00000416948.1_RNA dynein, axonemal, heavy chain 8 NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4) 260 TCTCATTGGTGTACTTCGAAC 0.458000 34 144 1.22384e-17 1.23506e-17 1 1 0 PTGFR 5737 broad.mit.edu 37 1 78958521 78958521 + Silent SNP T T C TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:78958521T>C ENST00000370756.3 + 2 330 c.93T>C c.(91-93)ttT>ttC p.F31F PTGFR_ENST00000370757.3_Silent_p.F31F|PTGFR_ENST00000370758.1_Silent_p.F31F NM_001039585.1 NP_001034674.1 P43088 PF2R_HUMAN prostaglandin F receptor (FP) 31 parturition extracellular region|integral to plasma membrane prostaglandin F receptor activity breast(6)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1) 33 Colorectal(170;0.248) Bimatoprost(DB00905)|Latanoprost(DB00654)|Travoprost(DB00287) TTTCCGTATTTTTTTCAGTAA 0.448000 61 85 0 0 1 0 0 ARPP21 10777 broad.mit.edu 37 3 35732412 35732412 + Nonsense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:35732412C>T ENST00000187397.4 + 9 1057 c.601C>T c.(601-603)Cga>Tga p.R201* ARPP21_ENST00000458225.1_Nonsense_Mutation_p.R201*|ARPP21_ENST00000444190.1_Nonsense_Mutation_p.R201*|ARPP21_ENST00000417925.1_Nonsense_Mutation_p.R201*|ARPP21_ENST00000337271.5_Nonsense_Mutation_p.R201* NM_016300.4 NP_057384.2 Q9UBL0 ARP21_HUMAN cAMP-regulated phosphoprotein, 21kDa 201 R3H. cytoplasm nucleic acid binding cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 61 GCTTGTCCATCGAGTGGCAGC 0.378000 9 123 0 0 1 0 0 TRRAP 8295 broad.mit.edu 37 7 98608860 98608860 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:98608860G>A ENST00000359863.4 + 70 11291 c.11082G>A c.(11080-11082)gaG>gaA p.E3694E TRRAP_ENST00000355540.3_Silent_p.E3665E|TRRAP_ENST00000446306.3_Silent_p.E3683E NM_001244580.1 NP_001231509.1 Q9Y4A5 TRRAP_HUMAN transformation/transcription domain-associated protein 3694 PI3K/PI4K. histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2) 176 all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274) STAD - Stomach adenocarcinoma(171;0.215) TCAACCCCGAGATGTTACAGA 0.493000 14 300 0 0 1 0 0 SLITRK6 84189 broad.mit.edu 37 13 86368512 86368512 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr13:86368512C>T ENST00000400286.2 - 2 2730 c.2132G>A c.(2131-2133)gGa>gAa p.G711E NM_032229.2 NP_115605.2 Q9H5Y7 SLIK6_HUMAN SLIT and NTRK-like family, member 6 711 integral to membrane p.G711E(1) breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 all_neural(89;0.117)|Medulloblastoma(90;0.163) GBM - Glioblastoma multiforme(99;0.0456) TGCATCACTTCCTTCTTTCTC 0.413000 27 229 0 0 1 0 0 POLR1B 84172 broad.mit.edu 37 2 113317045 113317045 + Silent SNP C C T rs113632213 TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:113317045C>T ENST00000263331.5 + 9 2086 c.1506C>T c.(1504-1506)acC>acT p.T502T POLR1B_ENST00000541869.1_Silent_p.T540T|POLR1B_ENST00000417433.2_Silent_p.T446T|POLR1B_ENST00000409894.3_Intron|POLR1B_ENST00000537335.1_Silent_p.T291T NM_019014.4 NP_061887.2 Q9H9Y6 RPA2_HUMAN polymerase (RNA) I polypeptide B, 128kDa 502 termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter nucleoplasm DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding breast(3)|endometrium(9)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 42 CCGTGCATACCCCAGACGGGG 0.562000 10 156 0 0 1 0 0 RHPN2 85415 broad.mit.edu 37 19 33502701 33502701 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:33502701C>T ENST00000254260.3 - 6 512 c.477G>A c.(475-477)cgG>cgA p.R159R RHPN2_ENST00000400226.4_Silent_p.R8R NM_033103.4 NP_149094.3 Q8IUC4 RHPN2_HUMAN rhophilin, Rho GTPase binding protein 2 159 BRO1. signal transduction perinuclear region of cytoplasm protein binding NS(1)|breast(3)|central_nervous_system(5)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(3)|skin(3)|urinary_tract(1) 44 Esophageal squamous(110;0.137) GGCTAGGCGTCCGACAAGCCT 0.597000 18 50 0 0 1 0 0 ZNF436-AS1 148898 broad.mit.edu 37 1 23697631 23697631 + Splice_Site SNP G G A rs34362736 TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:23697631G>A ENST00000454117.1 + 2 296 c.e2-1 C1orf213_ENST00000437367.2_Splice_Site|C1orf213_ENST00000335648.3_3'UTR|C1orf213_ENST00000458053.1_Splice_Site|C1orf213_ENST00000518821.1_Splice_Site kidney(1) 1 Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;4.97e-26)|Colorectal(126;4.8e-08)|COAD - Colon adenocarcinoma(152;2.83e-06)|GBM - Glioblastoma multiforme(114;5.23e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|KIRC - Kidney renal clear cell carcinoma(1967;0.00314)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0827)|LUSC - Lung squamous cell carcinoma(448;0.184) TTATTCCTCAGGCCTGCGGGG 0.557000 5 18 0 0 1 0 0 ZNF83 55769 broad.mit.edu 37 19 53138343 53138343 + Translation_Start_Site SNP C C A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:53138343C>A ENST00000597597.1 - 0 1996 ZNF83_ENST00000301096.3_De_novo_Start_OutOfFrame|ZNF83_ENST00000598536.1_De_novo_Start_OutOfFrame|ZNF83_ENST00000597161.1_De_novo_Start_OutOfFrame|ZNF83_ENST00000536937.1_De_novo_Start_OutOfFrame|ZNF83_ENST00000596930.1_De_novo_Start_OutOfFrame|ZNF83_ENST00000601257.1_De_novo_Start_OutOfFrame|ZNF83_ENST00000544146.1_De_novo_Start_InFrame|ZNF83_ENST00000545872.1_De_novo_Start_OutOfFrame|ZNF83_ENST00000600714.1_De_novo_Start_OutOfFrame P51522 ZNF83_HUMAN zinc finger protein 83 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2) 18 OV - Ovarian serous cystadenocarcinoma(262;0.00841)|GBM - Glioblastoma multiforme(134;0.0244) TTCCTGACGCCTTTGCTTTCC 0.438000 15 45 6.72482e-11 6.76734e-11 1 1 0 USH2A 7399 broad.mit.edu 37 1 216040395 216040395 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:216040395C>T ENST00000366943.2 - 44 9185 c.8799G>A c.(8797-8799)gcG>gcA p.A2933A USH2A_ENST00000307340.3_Silent_p.A2933A O75445 USH2A_HUMAN Usher syndrome 2A (autosomal recessive, mild) 2933 Fibronectin type-III 16. maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3) 527 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) TAAGGACACTCGCAGTGAGAT 0.453000 HNSCC(13;0.011) 6 113 0 0 1 0 0 WNT2 7472 broad.mit.edu 37 7 116960655 116960655 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:116960655C>T ENST00000265441.3 - 2 575 c.276G>A c.(274-276)agG>agA p.R92R AC002465.2_ENST00000436097.1_RNA NM_003391.2 NP_003382.1 P09544 WNT2_HUMAN wingless-type MMTV integration site family member 2 92 atrial cardiac muscle tissue morphogenesis|canonical Wnt receptor signaling pathway|cardiac epithelial to mesenchymal transition|cellular response to retinoic acid|cellular response to transforming growth factor beta stimulus|dorsal/ventral axis specification|iris morphogenesis|labyrinthine layer blood vessel development|lens development in camera-type eye|lung induction|mammary gland epithelium development|neuron differentiation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of fibroblast proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|Wnt receptor signaling pathway, calcium modulating pathway cytoplasm|extracellular space|proteinaceous extracellular matrix cytokine activity|frizzled binding|frizzled-2 binding|signal transducer activity breast(2)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|ovary(3)|prostate(1)|skin(2) 31 all_epithelial(6;2.24e-06)|Lung NSC(10;0.000936)|all_lung(10;0.00109) STAD - Stomach adenocarcinoma(10;0.000512) LUSC - Lung squamous cell carcinoma(290;0.133) GGCTGTGATCCCTGTCCAGGG 0.582000 23 40 0 0 1 0 0 COL11A1 1301 broad.mit.edu 37 1 103354310 103354310 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:103354310G>A ENST00000358392.2 - 61 4876 c.4559C>T c.(4558-4560)cCt>cTt p.P1520L COL11A1_ENST00000353414.4_Missense_Mutation_p.P1469L|COL11A1_ENST00000512756.1_Missense_Mutation_p.P1392L|COL11A1_ENST00000370096.3_Missense_Mutation_p.P1508L NM_080629.2 NP_542196.2 P12107 COBA1_HUMAN collagen, type XI, alpha 1 1508 Triple-helical region. collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception collagen type XI extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1) 258 all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181) Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248) TGGGCCTTGAGGACCCTACAA 0.333000 27 65 0 0 1 0 0 ZNF768 79724 broad.mit.edu 37 16 30536209 30536209 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr16:30536209G>A ENST00000380412.5 - 2 1427 c.1252C>T c.(1252-1254)Ccc>Tcc p.P418S ZNF768_ENST00000562803.1_Missense_Mutation_p.P387S NM_024671.3 NP_078947.3 Q9H5H4 ZN768_HUMAN zinc finger protein 768 418 regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter DNA-directed RNA polymerase II, core complex DNA binding|zinc ion binding endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1) 15 CGGGCATGGGGGATAAGGGCC 0.672000 7 60 0 0 1 0 0 MXRA5 25878 broad.mit.edu 37 X 3242868 3242868 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chrX:3242868C>T ENST00000217939.6 - 5 1012 c.858G>A c.(856-858)caG>caA p.Q286Q NM_015419.3 NP_056234.2 Q9NR99 MXRA5_HUMAN matrix-remodelling associated 5 286 extracellular region NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2) 157 all_lung(23;0.00031)|Lung NSC(23;0.000946) TGCTCCTGTTCTGTCTCAGAG 0.488000 79 16 0 0 1 0 0 MYOCD 93649 broad.mit.edu 37 17 12656149 12656149 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:12656149C>T ENST00000425538.1 + 10 1744 c.1544C>T c.(1543-1545)tCc>tTc p.S515F MYOCD_ENST00000343344.4_Missense_Mutation_p.S515F|MYOCD_ENST00000395988.1_Missense_Mutation_p.S419F NM_001146312.1|NM_153604.2 NP_001139784.1|NP_705832.1 Q8IZQ8 MYCD_HUMAN myocardin 515 cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation nucleus nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 70 UCEC - Uterine corpus endometrioid carcinoma (92;0.0969) GGGCTGGACTCCGAGAAGGAC 0.577000 18 36 0 0 1 0 0 DGCR5 26220 broad.mit.edu 37 22 18979626 18979626 + RNA SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr22:18979626C>T ENST00000438934.1 + 0 2977 DGCR5_ENST00000537283.1_RNA|DGCR5_ENST00000440005.2_RNA GTGTCTCCCCCTTCAGCCCCC 0.632000 5 11 0 0 1 0 0 TOR2A 27433 broad.mit.edu 37 9 130494384 130494384 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:130494384G>A ENST00000373284.5 - 5 941 c.895C>T c.(895-897)Cct>Tct p.P299S TOR2A_ENST00000458505.3_3'UTR|TOR2A_ENST00000472723.1_5'UTR|TOR2A_ENST00000373281.5_3'UTR|TOR2A_ENST00000336067.6_3'UTR NM_001085347.2 NP_001078816.1 Q5JU69 TOR2A_HUMAN torsin family 2, member A 299 chaperone mediated protein folding requiring cofactor endoplasmic reticulum|extracellular region ATP binding|nucleoside-triphosphatase activity NS(1)|endometrium(2) 3 TCGTCTTCAGGGAAGAAGGTG 0.637000 7 160 0 0 1 0 0 COL24A1 255631 broad.mit.edu 37 1 86591213 86591213 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:86591213G>A ENST00000370571.2 - 3 1172 c.806C>T c.(805-807)cCc>cTc p.P269L COL24A1_ENST00000436319.1_Missense_Mutation_p.P269L NM_152890.5 NP_690850.2 Q17RW2 COOA1_HUMAN collagen, type XXIV, alpha 1 269 cell adhesion collagen extracellular matrix structural constituent NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 101 all cancers(265;0.0627)|Epithelial(280;0.0689) TTTGGGCGGGGGAGAGTGTTC 0.398000 52 90 0 0 1 0 0 NTSR2 23620 broad.mit.edu 37 2 11809692 11809692 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:11809692C>T ENST00000306928.5 - 1 598 c.564G>A c.(562-564)gaG>gaA p.E188E NM_012344.3 NP_036476.1 O95665 NTR2_HUMAN neurotensin receptor 2 188 sensory perception integral to plasma membrane breast(1)|large_intestine(7)|lung(7)|prostate(1)|urinary_tract(1) 17 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.129)|OV - Ovarian serous cystadenocarcinoma(76;0.24) Levocabastine(DB01106) GCGAGGCGGGCTCCGGCTCCC 0.711000 10 24 0 0 1 0 0 OR4N4 283694 broad.mit.edu 37 15 22382615 22382615 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr15:22382615C>T ENST00000328795.4 + 1 234 c.143C>T c.(142-144)aCc>aTc p.T48I RP11-69H14.6_ENST00000558896.1_RNA NM_001005241.2 NP_001005241.2 Q8N0Y3 OR4N4_HUMAN olfactory receptor, family 4, subfamily N, member 4 48 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 40 all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101) GBM - Glioblastoma multiforme(6;0.124) all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963) ATTATTTTCACCATAAGGTCA 0.458000 18 405 0 0 1 0 0 DPYD 1806 broad.mit.edu 37 1 97839148 97839148 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:97839148C>T ENST00000370192.3 - 16 2127 c.2027G>A c.(2026-2028)gGa>gAa p.G676E NM_000110.3 NP_000101.2 Q12882 DPYD_HUMAN dihydropyrimidine dehydrogenase 676 Uracil binding (Potential). 'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process cytosol 4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1) 83 all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994) Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216) Capecitabine(DB01101)|Enfuvirtide(DB00109) TCCTCTTTCTCCCATGCCATG 0.443000 26 56 0 0 1 0 0 FAM47A 158724 broad.mit.edu 37 X 34148044 34148044 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chrX:34148044G>A ENST00000346193.3 - 1 2403 c.2352C>T c.(2350-2352)atC>atT p.I784I NM_203408.3 NP_981953.2 Q5JRC9 FA47A_HUMAN family with sequence similarity 47, member A 784 NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2) 97 ATGCCTCTACGATTTCTTTGT 0.373000 45 32 0 0 1 0 0 GPHA2 170589 broad.mit.edu 37 11 64702860 64702860 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:64702860C>T ENST00000279168.2 - 2 127 c.73G>A c.(73-75)Gag>Aag p.E25K GPHA2_ENST00000532246.1_Missense_Mutation_p.E25K|GPHA2_ENST00000533257.1_Missense_Mutation_p.E25K NM_130769.3 NP_570125.1 Q96T91 GPHA2_HUMAN glycoprotein hormone alpha 2 25 extracellular region hormone activity central_nervous_system(1)|endometrium(1)|prostate(1) 3 ATGACTGCCTCCTGGCCCCAG 0.602000 9 29 0 0 1 0 0 BNC1 646 broad.mit.edu 37 15 83933212 83933212 + Missense_Mutation SNP T T A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr15:83933212T>A ENST00000345382.2 - 4 876 c.791A>T c.(790-792)tAt>tTt p.Y264F RP11-382A20.4_ENST00000565495.1_RNA|BNC1_ENST00000569704.1_Missense_Mutation_p.Y257F NM_001717.3 NP_001708.3 Q01954 BNC1_HUMAN basonuclin 1 264 epidermis development|positive regulation of cell proliferation cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1) 56 CTCCAACATATATTGTTCGGG 0.498000 26 59 0 0 1 0 0 CDCA2 157313 broad.mit.edu 37 8 25319698 25319698 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:25319698C>T ENST00000330560.3 + 4 838 c.361C>T c.(361-363)Cct>Tct p.P121S CDCA2_ENST00000380665.3_Missense_Mutation_p.P106S NM_152562.2 NP_689775.2 Q69YH5 CDCA2_HUMAN cell division cycle associated 2 121 cell division|mitosis cytoplasm|nucleus breast(3)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(7)|lung(10)|ovary(1)|prostate(3) 35 all_cancers(63;0.0378)|Ovarian(32;0.000878)|all_epithelial(46;0.0162)|Breast(100;0.0164)|Prostate(55;0.191) UCEC - Uterine corpus endometrioid carcinoma (27;0.022)|Epithelial(17;1.37e-11)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0443) TAGGAAATCTCCTTTGGCACA 0.433000 5 80 0 0 1 0 0 NEK9 91754 broad.mit.edu 37 14 75562103 75562103 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr14:75562103G>A ENST00000238616.5 - 18 2363 c.2205C>T c.(2203-2205)tcC>tcT p.S735S NM_033116.4 NP_149107.4 Q8TD19 NEK9_HUMAN NIMA-related kinase 9 735 Interaction with NEK6. cell division|mitosis mitochondrion|nucleus ATP binding|metal ion binding|protein kinase binding|protein serine/threonine kinase activity endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1) 31 BRCA - Breast invasive adenocarcinoma(234;0.00718) CACTGCTATTGGAACGGATGG 0.388000 21 37 0 0 1 0 0 OVGP1 5016 broad.mit.edu 37 1 111957665 111957665 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:111957665G>A ENST00000369732.3 - 11 1513 c.1458C>T c.(1456-1458)tcC>tcT p.S486S NM_002557.3 NP_002548.3 Q12889 OVGP1_HUMAN oviductal glycoprotein 1, 120kDa 486 chitin catabolic process|female pregnancy|single fertilization transport vesicle cation binding|chitinase activity NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1) 39 all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302) Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14) CAGGGGTCATGGACTGATGAC 0.527000 40 72 0 0 1 0 0 BMP2 650 broad.mit.edu 37 20 6759411 6759411 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr20:6759411G>A ENST00000378827.4 + 3 2085 c.866G>A c.(865-867)cGg>cAg p.R289Q NM_001200.2 NP_001191.1 P12643 BMP2_HUMAN bone morphogenetic protein 2 289 BMP signaling pathway involved in heart induction|bone mineralization involved in bone maturation|cardiac cell differentiation|cardiac epithelial to mesenchymal transition|cartilage development|growth|negative regulation of cell cycle|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|pathway-restricted SMAD protein phosphorylation|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cartilage development|positive regulation of endothelial cell proliferation|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of phosphatase activity|positive regulation of transcription from RNA polymerase II promoter|SMAD protein signal transduction extracellular space activin receptor activity, type II|BMP receptor binding|cytokine activity|growth factor activity|phosphatase activator activity|protein heterodimerization activity|SMAD binding|transforming growth factor beta receptor binding breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1) 13 Simvastatin(DB00641) CACAAACAGCGGAAACGCCTT 0.507000 22 63 0 0 1 0 0 MCM2 4171 broad.mit.edu 37 3 127323952 127323952 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:127323952G>A ENST00000265056.7 + 4 870 c.626G>A c.(625-627)aGc>aAc p.S209N NM_004526.2 NP_004517.2 P49736 MCM2_HUMAN minichromosome maintenance complex component 2 209 Interaction with MYST2 (By similarity). cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle chromatin|MCM complex ATP binding|helicase activity|metal ion binding ovary(3)|skin(2)|stomach(1) 6 CACGTCGACAGCCACGGCCAC 0.627000 6 231 0 0 1 0 0 RMDN2 151393 broad.mit.edu 37 2 38178744 38178744 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:38178744C>T ENST00000407257.1 + 2 533 c.386C>T c.(385-387)tCc>tTc p.S129F RMDN2_ENST00000406384.1_Intron|RMDN2_ENST00000402091.3_Missense_Mutation_p.S129F|RMDN2-AS1_ENST00000414365.2_RNA|RMDN2_ENST00000354545.2_Intron|RMDN2_ENST00000234195.3_Missense_Mutation_p.S129F|RMDN2_ENST00000417700.2_Intron regulator of microtubule dynamics 2 CGTTTCTCATCCCGTAAACTA 0.368000 9 157 0 0 1 0 0 CROT 54677 broad.mit.edu 37 7 86978493 86978493 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:86978493G>A ENST00000331536.3 + 3 294 c.109G>A c.(109-111)Gaa>Aaa p.E37K CROT_ENST00000442291.1_Missense_Mutation_p.E37K|CROT_ENST00000419147.2_Missense_Mutation_p.E37K|CROT_ENST00000412227.2_Missense_Mutation_p.E37K NM_021151.3 NP_066974.2 Q9UKG9 OCTC_HUMAN carnitine O-octanoyltransferase 37 fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy|transport peroxisomal matrix carnitine O-octanoyltransferase activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 37 Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203) L-Carnitine(DB00583) AAAATACCTTGAATCAGGTAT 0.338000 31 83 0 0 1 0 0 SGMS1 259230 broad.mit.edu 37 10 52071133 52071133 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:52071133G>A ENST00000361781.2 - 9 1743 c.784C>T c.(784-786)Ctc>Ttc p.L262F SGMS1_ENST00000429490.1_Missense_Mutation_p.L93F NM_147156.3 NP_671512.1 Q86VZ5 SMS1_HUMAN sphingomyelin synthase 1 268 apoptosis|cell growth|sphingomyelin biosynthetic process endoplasmic reticulum|Golgi trans cisterna|integral to Golgi membrane|nucleus|plasma membrane ceramide cholinephosphotransferase activity|kinase activity|sphingomyelin synthase activity endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 16 CCAGCAATGAGCTTCATTATT 0.448000 28 50 0 0 1 0 0 TRIM27 5987 broad.mit.edu 37 6 28871934 28871934 + Silent SNP A A T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:28871934A>T ENST00000377199.3 - 8 1811 c.1455T>A c.(1453-1455)gcT>gcA p.A485A TRIM27_ENST00000377194.3_3'UTR NM_006510.4 NP_006501.1 P14373 TRI27_HUMAN tripartite motif containing 27 485 B30.2/SPRY. cell proliferation|negative regulation of gene expression, epigenetic|negative regulation of transcription from RNA polymerase II promoter|protein trimerization|spermatogenesis|transcription, DNA-dependent cytoplasm|integral to plasma membrane|membrane fraction|nuclear membrane|PML body DNA binding|protein binding|transmembrane receptor protein tyrosine kinase activity|zinc ion binding endometrium(1)|large_intestine(2)|lung(6)|ovary(1) 10 TGATCAGAGGAGCTGCACTTT 0.517000 T RET papillary thyroid 44 219 0 0 1 0 0 PPFIA3 8541 broad.mit.edu 37 19 49633831 49633831 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:49633831C>T ENST00000334186.4 + 7 1203 c.854C>T c.(853-855)tCc>tTc p.S285F PPFIA3_ENST00000602351.1_Missense_Mutation_p.S285F NM_003660.2 NP_003651.1 O75145 LIPA3_HUMAN protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 3 285 cell surface|cytoplasm protein binding NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(16)|pancreas(1)|prostate(1)|skin(4)|urinary_tract(1) 35 all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392) all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677) GAAGCCAACTCCAAGCTGCAG 0.682000 6 14 0 0 1 0 0 PPM1E 22843 broad.mit.edu 37 17 56833470 56833470 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:56833470G>A ENST00000308249.2 + 1 241 c.112G>A c.(112-114)Gaa>Aaa p.E38K NM_014906.4 NP_055721.3 Q8WY54 PPM1E_HUMAN protein phosphatase, Mg2+/Mn2+ dependent, 1E 38 11 X 2 AA tandem repeats of P-E.|Glu-rich.|Pro-rich. protein dephosphorylation cytoplasm|nucleolus|protein serine/threonine phosphatase complex metal ion binding|protein serine/threonine phosphatase activity biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2) 33 Medulloblastoma(34;0.127)|all_neural(34;0.237) BRCA - Breast invasive adenocarcinoma(1;5.76e-11) acccgaacccgaacccgaacc 0.677000 4 33 0 0 1 0 0 LRRIQ4 344657 broad.mit.edu 37 3 169540459 169540459 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:169540459G>A ENST00000340806.6 + 1 750 c.750G>A c.(748-750)ccG>ccA p.P250P NM_001080460.1 NP_001073929.1 A6NIV6 LRIQ4_HUMAN leucine-rich repeats and IQ motif containing 4 250 breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 30 ACTCCATCCCGAAGAGCTTCG 0.587000 25 49 0 0 1 0 0 REG1A 5967 broad.mit.edu 37 2 79348777 79348777 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:79348777G>A ENST00000233735.1 + 3 257 c.154G>A c.(154-156)Gaa>Aaa p.E52K NM_002909.4 NP_002900.2 P05451 REG1A_HUMAN regenerating islet-derived 1 alpha 52 C-type lectin. positive regulation of cell proliferation extracellular region growth factor activity|sugar binding NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(26)|prostate(1)|upper_aerodigestive_tract(1) 39 CTACTTTAATGAAGACCGTGA 0.552000 101 162 0 0 1 0 0 ANK1 286 broad.mit.edu 37 8 41557004 41557004 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:41557004C>T ENST00000396942.1 - 23 2607 c.2524G>A c.(2524-2526)Gag>Aag p.E842K ANK1_ENST00000379758.2_Missense_Mutation_p.E842K|ANK1_ENST00000352337.4_Missense_Mutation_p.E842K|ANK1_ENST00000265709.8_Missense_Mutation_p.E883K|ANK1_ENST00000396945.1_Missense_Mutation_p.E842K|ANK1_ENST00000289734.7_Missense_Mutation_p.E842K|ANK1_ENST00000347528.4_Missense_Mutation_p.E842K P16157 ANK1_HUMAN ankyrin 1, erythrocytic 842 axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 122 Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211) all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188) OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264) TCCAGCAGCTCCTTCTCTTCA 0.582000 70 164 0 0 1 0 0 KIAA0141 9812 broad.mit.edu 37 5 141318100 141318100 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:141318100G>A ENST00000432126.2 + 12 1458 c.1324G>A c.(1324-1326)Gac>Aac p.D442N KIAA0141_ENST00000194118.4_Missense_Mutation_p.D442N NM_001142603.1|NM_014773.3 NP_001136075.1|NP_055588.3 Q14154 DELE_HUMAN KIAA0141 442 apoptosis|regulation of caspase activity mitochondrion protein binding endometrium(3)|large_intestine(4)|lung(5)|skin(1)|urinary_tract(3) 16 all_hematologic(541;0.118) KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGGGCCCAGCGACCTGACAGT 0.552000 63 108 0 0 1 0 0 THPO 7066 broad.mit.edu 37 3 184094045 184094045 + Translation_Start_Site SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:184094045C>T ENST00000204615.7 - 2 217 c.3G>A c.(1-3)atG>atA p.M1I EIF2B5_ENST00000444495.1_Intron|THPO_ENST00000445696.2_Start_Codon_SNP_p.M1I|THPO_ENST00000421442.2_Start_Codon_SNP_p.M1I NM_000460.2|NM_001177597.1|NM_001177598.1 NP_000451.1|NP_001171068.1|NP_001171069.1 P40225 TPO_HUMAN thrombopoietin 1 cell proliferation|platelet activation extracellular space cytokine activity|growth factor activity|hormone activity NS(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1) 16 all_cancers(143;6.33e-11)|Ovarian(172;0.0339) Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) CAGTCAGCTCCATTCTGGCCG 0.612000 97 265 0 0 1 0 0 NELL2 4753 broad.mit.edu 37 12 45059361 45059361 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:45059361G>A ENST00000429094.2 - 13 1854 c.1350C>T c.(1348-1350)taC>taT p.Y450Y NELL2_ENST00000452445.2_Silent_p.Y450Y|NELL2_ENST00000437801.2_Silent_p.Y500Y|NELL2_ENST00000395487.2_Silent_p.Y449Y|NELL2_ENST00000333837.4_Silent_p.Y473Y|NELL2_ENST00000551601.1_Silent_p.Y449Y|NELL2_ENST00000549027.1_Silent_p.Y449Y NM_001145108.1 NP_001138580.1 Q99435 NELL2_HUMAN NEL-like 2 (chicken) 450 EGF-like 2; calcium-binding (Potential). cell adhesion extracellular region calcium ion binding|protein binding|structural molecule activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 65 Lung SC(27;0.192) Lung NSC(34;0.144) GBM - Glioblastoma multiforme(48;0.092) TTTCACGACAGTAATGGCGCC 0.403000 23 61 0 0 1 0 0 FOXP2 93986 broad.mit.edu 37 7 114282576 114282576 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:114282576C>T ENST00000393500.3 + 13 1482 c.662C>T c.(661-663)tCc>tTc p.S221F FOXP2_ENST00000403559.4_Missense_Mutation_p.S313F|FOXP2_ENST00000360232.4_Missense_Mutation_p.S296F|FOXP2_ENST00000350908.4_Missense_Mutation_p.S296F|FOXP2_ENST00000393491.3_Missense_Mutation_p.S204F|FOXP2_ENST00000408937.3_Missense_Mutation_p.S321F|FOXP2_ENST00000378237.3_Missense_Mutation_p.S296F|FOXP2_ENST00000393494.2_Missense_Mutation_p.S296F|FOXP2_ENST00000393489.3_Missense_Mutation_p.S204F|FOXP2_ENST00000393498.2_Missense_Mutation_p.S275F|FOXP2_ENST00000390668.3_Missense_Mutation_p.S320F O15409 FOXP2_HUMAN forkhead box P2 296 Gln-rich. camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning cytoplasm|transcription factor complex chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 52 ACTAACAATTCCTCCTCGACT 0.448000 38 139 0 0 1 0 0 RP11-287D1.3 0 broad.mit.edu 37 2 74589185 74589185 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:74589185G>A ENST00000451608.2 - 4 431 c.432C>T c.(430-432)ttC>ttT p.F144F DCTN1_ENST00000409567.3_Silent_p.F1206F|DCTN1_ENST00000394003.3_Silent_p.F1224F|DCTN1_ENST00000361874.3_Silent_p.F1231F|DCTN1_ENST00000407639.2_Silent_p.F1097F|DCTN1_ENST00000409868.1_Silent_p.F1209F|DCTN1_ENST00000409438.1_Silent_p.F1092F|DCTN1_ENST00000409240.1_Silent_p.F1189F TCACCCTGAGGAAGGCTGATG 0.607000 14 62 0 0 1 0 0 WNK4 65266 broad.mit.edu 37 17 40936445 40936445 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:40936445C>T ENST00000246914.5 + 4 1039 c.1018C>T c.(1018-1020)Ccg>Tcg p.P340S NM_032387.4 NP_115763.2 Q96J92 WNK4_HUMAN WNK lysine deficient protein kinase 4 340 Protein kinase. intracellular protein kinase cascade tight junction ATP binding|protein serine/threonine kinase activity NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1) 35 Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.0749) TACAGGGACCCCGGAATTCAT 0.607000 16 24 0 0 1 0 0 SLC5A12 159963 broad.mit.edu 37 11 26743259 26743259 + Translation_Start_Site SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:26743259C>T ENST00000396005.3 - 1 312 c.3G>A c.(1-3)atG>atA p.M1I SLC5A12_ENST00000280467.6_Start_Codon_SNP_p.M1I NM_178498.3 NP_848593.2 Q1EHB4 SC5AC_HUMAN solute carrier family 5 (sodium/monocarboxylate cotransporter), member 12 1 sodium ion transport apical plasma membrane|integral to membrane symporter activity p.M1I(2) breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1) 35 TCTTCACCTCCATATTGGAAA 0.408000 54 118 0 0 1 0 0 PTCHD2 57540 broad.mit.edu 37 1 11591708 11591708 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:11591708C>T ENST00000294484.6 + 17 3454 c.3316C>T c.(3316-3318)Cac>Tac p.H1106Y PTCHD2_ENST00000389575.3_Missense_Mutation_p.H1106Y NM_020780.1 NP_065831.1 Q9P2K9 PTHD2_HUMAN patched domain containing 2 1106 cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway endoplasmic reticulum|integral to membrane|nuclear membrane hedgehog receptor activity NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 76 Ovarian(185;0.249) Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549) GCAGCTGTCCCACGGGGCAGT 0.662000 21 45 0 0 1 0 0 VIL1 7429 broad.mit.edu 37 2 219294332 219294332 + Silent SNP C C T rs150029516 TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:219294332C>T ENST00000248444.5 + 8 871 c.783C>T c.(781-783)tcC>tcT p.S261S VIL1_ENST00000392114.2_5'UTR|VIL1_ENST00000440053.1_Silent_p.S261S NM_007127.2 NP_009058.2 P09327 VILI_HUMAN villin 1 261 Core. actin filament capping|actin filament depolymerization|actin filament polymerization|actin filament severing|apoptosis|cellular response to epidermal growth factor stimulus|cytoplasmic actin-based contraction involved in cell motility|epidermal growth factor receptor signaling pathway|positive regulation of actin filament bundle assembly|positive regulation of epithelial cell migration|regulation of actin nucleation|regulation of cell shape|regulation of lamellipodium morphogenesis|regulation of wound healing|response to bacterium actin filament bundle|cytoplasm|filopodium tip|intracellular membrane-bounded organelle|lamellipodium|microvillus|ruffle actin filament binding|calcium ion binding|caspase inhibitor activity|lysophosphatidic acid binding|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 Renal(207;0.0474) Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) TGTCTGACTCCGAGGGGAATC 0.627000 67 142 0 0 1 0 0 THADA 63892 broad.mit.edu 37 2 43798859 43798859 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:43798859G>A ENST00000403856.1 - 14 2198 c.2051C>T c.(2050-2052)tCt>tTt p.S684F THADA_ENST00000404790.1_Missense_Mutation_p.S684F|THADA_ENST00000402360.2_Missense_Mutation_p.S684F|THADA_ENST00000405975.2_Missense_Mutation_p.S684F|THADA_ENST00000405006.4_Missense_Mutation_p.S684F|THADA_ENST00000330266.7_Missense_Mutation_p.S394F|THADA_ENST00000415080.2_Missense_Mutation_p.S394F Q6YHU6 THADA_HUMAN thyroid adenoma associated 684 binding breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 66 Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837) TTTAAGAAGAGAACAGATCTG 0.408000 48 98 0 0 1 0 0 EXD2 55218 broad.mit.edu 37 14 69704486 69704486 + Missense_Mutation SNP A A T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr14:69704486A>T ENST00000409014.1 + 10 1769 c.1112A>T c.(1111-1113)gAt>gTt p.D371V EXD2_ENST00000312994.5_Missense_Mutation_p.D496V|EXD2_ENST00000409018.3_Missense_Mutation_p.D496V|EXD2_ENST00000409675.1_Missense_Mutation_p.D371V|EXD2_ENST00000409242.1_Missense_Mutation_p.D371V|EXD2_ENST00000492815.1_3'UTR|EXD2_ENST00000409949.1_Missense_Mutation_p.D371V|EXD2_ENST00000449989.1_Missense_Mutation_p.D371V NM_001193360.1 NP_001180289.1 Q9NVH0 EXD2_HUMAN exonuclease 3'-5' domain containing 2 371 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process intracellular 3'-5' exonuclease activity|nucleic acid binding breast(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(7)|prostate(1)|urinary_tract(1) 14 CTGCTGGAAGATCCTGAGCGC 0.617000 13 29 0 0 1 0 0 LRRC15 131578 broad.mit.edu 37 3 194081061 194081061 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:194081061G>A ENST00000347624.3 - 2 797 c.712C>T c.(712-714)Cct>Tct p.P238S LRRC15_ENST00000428839.1_Missense_Mutation_p.P244S|LRRC15_ENST00000439944.2_Missense_Mutation_p.P244S NM_130830.4 NP_570843.2 Q8TF66 LRC15_HUMAN leucine rich repeat containing 15 238 integral to membrane biliary_tract(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(20)|ovary(4)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 all_cancers(143;5.31e-09)|Ovarian(172;0.0634) OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;4.94e-05) AAGAGACCAGGGGAGAGCAGT 0.552000 53 135 0 0 1 0 0 RYR1 6261 broad.mit.edu 37 19 38976479 38976479 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:38976479C>T ENST00000355481.4 + 34 5315 c.5184C>T c.(5182-5184)tcC>tcT p.S1728S RYR1_ENST00000360985.3_Silent_p.S1728S|RYR1_ENST00000359596.3_Silent_p.S1728S NM_000540.2|NM_001042723.1 NP_000531.2|NP_001036188.1 P21817 RYR1_HUMAN ryanodine receptor 1 (skeletal) 1728 6 X approximate repeats. muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7) 285 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) GCCGCCGCTCCATGCTCTCTG 0.647000 64 109 0 0 1 0 0 PLCB1 23236 broad.mit.edu 37 20 8862424 8862424 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr20:8862424G>A ENST00000338037.6 + 32 3606 c.3579G>A c.(3577-3579)gtG>gtA p.V1193V PLCB1_ENST00000378641.3_3'UTR NM_015192.2 NP_056007.1 Q9NQ66 PLCB1_HUMAN phospholipase C, beta 1 (phosphoinositide-specific) 1193 activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission cytosol|nuclear chromatin|nuclear speck calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4) 95 CTGGAAAAGTGAACCACAAGA 0.502000 74 159 0 0 1 0 0 SLAMF7 57823 broad.mit.edu 37 1 160722032 160722032 + Missense_Mutation SNP G G A rs34005665 byFrequency TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:160722032G>A ENST00000359331.4 + 5 837 c.826G>A c.(826-828)Gaa>Aaa p.E276K SLAMF7_ENST00000368043.3_Silent_p.P310P|SLAMF7_ENST00000368042.3_Silent_p.P203P|SLAMF7_ENST00000458104.2_Missense_Mutation_p.E129K|SLAMF7_ENST00000444090.2_Missense_Mutation_p.E145K|SLAMF7_ENST00000458602.2_Silent_p.P163P|SLAMF7_ENST00000441662.2_Silent_p.P179P Q9NQ25 SLAF7_HUMAN SLAM family member 7 0 cell adhesion|natural killer cell activation|natural killer cell mediated cytotoxicity integral to membrane receptor activity breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(4) 24 all_cancers(52;2.63e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.0175) TGGAAATACCGAAAAAGGTAA 0.363000 18 67 0 0 1 0 0 APBA3 9546 broad.mit.edu 37 19 3759748 3759748 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:3759748G>A ENST00000316757.3 - 2 715 c.515C>T c.(514-516)cCg>cTg p.P172L NM_004886.3 NP_004877.1 O96018 APBA3_HUMAN amyloid beta (A4) precursor protein-binding, family A, member 3 172 intracellular signal transduction|protein transport intracellular|membrane protein binding endometrium(1)|large_intestine(1)|skin(1) 3 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00467)|STAD - Stomach adenocarcinoma(1328;0.18) CCAGGGTTCCGGGGAACTGCT 0.657000 30 57 0 0 1 0 0 DCC 1630 broad.mit.edu 37 18 50278669 50278669 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr18:50278669G>A ENST00000442544.2 + 2 953 c.337G>A c.(337-339)Gga>Aga p.G113R DCC_ENST00000412726.1_5'UTR NM_005215.3 NP_005206.2 P43146 DCC_HUMAN deleted in colorectal carcinoma 113 Ig-like C2-type 1. apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development cytosol|integral to membrane NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6) 148 all_cancers(7;0.11)|all_epithelial(6;0.00126) Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942) GCCAGATGAGGGACTTTACCA 0.448000 44 72 0 0 1 0 0 CLVS1 157807 broad.mit.edu 37 8 62212722 62212722 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:62212722G>A ENST00000519846.1 + 3 808 c.336G>A c.(334-336)aaG>aaA p.K112K CLVS1_ENST00000325897.4_Silent_p.K112K|RP11-787D18.1_ENST00000518064.1_RNA|CLVS1_ENST00000518592.1_Intron Q8IUQ0 CLVS1_HUMAN clavesin 1 112 lysosome organization clathrin-coated vesicle|early endosome membrane|trans-Golgi network phosphatidylinositol-3,5-bisphosphate binding|transporter activity endometrium(3)|kidney(4)|large_intestine(4)|lung(21)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 41 AAAACTTCAAGGCAGATGATC 0.512000 35 55 0 0 1 0 0 GIPC2 54810 broad.mit.edu 37 1 78546431 78546431 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:78546431G>A ENST00000370759.3 + 2 506 c.313G>A c.(313-315)Gat>Aat p.D105N GIPC2_ENST00000476882.1_3'UTR NM_017655.4 NP_060125.4 Q8TF65 GIPC2_HUMAN GIPC PDZ domain containing family, member 2 105 cytoplasm endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(2) 20 AGGACTAGAAGATTTCATATT 0.358000 50 120 0 0 1 0 0 ABCB4 5244 broad.mit.edu 37 7 87031601 87031601 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:87031601C>T ENST00000265723.4 - 28 3783 c.3672G>A c.(3670-3672)ctG>ctA p.L1224L ABCB4_ENST00000453593.1_Silent_p.L1170L|ABCB4_ENST00000545634.1_Silent_p.L1217L|ABCB4_ENST00000359206.3_Silent_p.L1217L|ABCB4_ENST00000358400.3_Silent_p.L1170L NM_000443.3|NM_018849.2 NP_000434.1|NP_061337.1 P21439 MDR3_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 4 1224 ABC transporter 2. cellular lipid metabolic process apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction ATP binding|xenobiotic-transporting ATPase activity breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 77 Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203) TGGCTTTGTCCAGGGCTTCTT 0.408000 34 81 0 0 1 0 0 ZFHX4 79776 broad.mit.edu 37 8 77616766 77616766 + Missense_Mutation SNP G G T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:77616766G>T ENST00000521891.2 + 2 891 c.443G>T c.(442-444)aGt>aTt p.S148I ZFHX4_ENST00000455469.2_Missense_Mutation_p.S148I|ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000050961.6_Missense_Mutation_p.S148I|ZFHX4_ENST00000518282.1_Missense_Mutation_p.S148I NM_024721.4 NP_078997.4 Q86UP3 ZFHX4_HUMAN zinc finger homeobox 4 148 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6) 432 BRCA - Breast invasive adenocarcinoma(89;0.0895) TCCAAAGAAAGTGGGCAGAAT 0.483000 HNSCC(33;0.089) 8 72 5.18039e-06 5.19893e-06 1 1 0 POU2AF1 5450 broad.mit.edu 37 11 111229588 111229588 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:111229588C>T ENST00000393067.3 - 2 586 c.72G>A c.(70-72)gtG>gtA p.V24V NM_006235.2 NP_006226.2 Q16633 OBF1_HUMAN POU class 2 associating factor 1 24 humoral immune response|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter nucleus protein binding|transcription coactivator activity breast(1)|kidney(2)|lung(2) 5 all_cancers(61;1.36e-12)|all_epithelial(67;1.87e-07)|Melanoma(852;1.46e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|all_neural(223;0.0146)|Medulloblastoma(222;0.0245)|Breast(348;0.0389) Epithelial(105;1.01e-06)|BRCA - Breast invasive adenocarcinoma(274;3.12e-06)|all cancers(92;1.8e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0364) CTGGCTCCTTCACACGGACGC 0.632000 T BCL6 NHL 22 14 0 0 1 0 0 GIMAP1 170575 broad.mit.edu 37 7 150417600 150417600 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:150417600G>A ENST00000307194.5 + 3 648 c.508G>A c.(508-510)Gag>Aag p.E170K NM_130759.3 NP_570115.1 GTPase, IMAP family member 1 NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 28 OV - Ovarian serous cystadenocarcinoma(82;0.0145) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) GAGCAACACAGAGAACCGGGC 0.647000 39 145 0 0 1 0 0 PRUNE2 158471 broad.mit.edu 37 9 79318509 79318509 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:79318509G>A ENST00000428286.1 - 9 8143 c.6943C>T c.(6943-6945)Ctg>Ttg p.L2315L PRUNE2_ENST00000376718.3_Silent_p.L2674L Q8WUY3 PRUN2_HUMAN prune homolog 2 (Drosophila) 2674 apoptosis|G1 phase|induction of apoptosis cytoplasm metal ion binding|pyrophosphatase activity endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1) 16 AGAATCTGCAGCTGGGGACCC 0.567000 24 69 0 0 1 0 0 HOMER2 9455 broad.mit.edu 37 15 83527825 83527825 + Silent SNP G G A rs1051936 TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr15:83527825G>A ENST00000304231.8 - 5 675 c.483C>T c.(481-483)caC>caT p.H161H HOMER2_ENST00000450735.2_Silent_p.H150H|HOMER2_ENST00000399166.2_Silent_p.H150H|HOMER2_ENST00000426485.1_Silent_p.H161H NM_199330.2 NP_955362.1 Q9NSB8 HOME2_HUMAN homer homolog 2 (Drosophila) 161 H -> Q (in Ref. 1; AAC71027/AAC71028). metabotropic glutamate receptor signaling pathway cell junction|cytoplasm|postsynaptic density|postsynaptic membrane cervix(1)|endometrium(2)|lung(6) 9 CAGACTTCAGGTGTGTGTTGG 0.512000 32 113 0 0 1 0 0 GRID1 2894 broad.mit.edu 37 10 87407059 87407059 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:87407059G>A ENST00000327946.7 - 13 2178 c.2093C>T c.(2092-2094)cCc>cTc p.P698L RP11-93H12.4_ENST00000474115.2_RNA|GRID1_ENST00000536331.1_Missense_Mutation_p.P269L NM_017551.2 NP_060021.1 Q9ULK0 GRID1_HUMAN glutamate receptor, ionotropic, delta 1 698 cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5) 106 L-Glutamic Acid(DB00142) CTGCTCCAGGGGGTTGGTGCC 0.542000 Multiple Myeloma(13;0.14) 10 490 0 0 1 0 0 TICRR 90381 broad.mit.edu 37 15 90128991 90128991 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr15:90128991C>T ENST00000268138.7 + 4 1334 c.1229C>T c.(1228-1230)tCc>tTc p.S410F TICRR_ENST00000560985.1_Missense_Mutation_p.S409F|RP11-429B14.1_ENST00000559041.1_RNA TOPBP1-interacting checkpoint and replication regulator GGAGTTATTTCCCCACTCTCT 0.522000 27 54 0 0 1 0 0 VAV1 7409 broad.mit.edu 37 19 6828467 6828467 + Missense_Mutation SNP A A T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:6828467A>T ENST00000304076.2 + 11 1155 c.1061A>T c.(1060-1062)gAg>gTg p.E354V VAV1_ENST00000596764.1_Missense_Mutation_p.E322V|VAV1_ENST00000599806.1_Missense_Mutation_p.E299V|VAV1_ENST00000539284.1_Missense_Mutation_p.E257V|VAV1_ENST00000602142.1_Missense_Mutation_p.E354V NM_001258206.1 NP_001245135.1 P15498 VAV_HUMAN vav 1 guanine nucleotide exchange factor 354 DH. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|T cell costimulation cytosol|plasma membrane metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2) 62 ATGGAGAAGGAGAACCTGCGG 0.632000 8 68 0 0 1 0 0 HIST1H1T 3010 broad.mit.edu 37 6 26108040 26108040 + Silent SNP C C T rs141494120 byFrequency TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:26108040C>T ENST00000338379.4 - 1 324 c.282G>A c.(280-282)aaG>aaA p.K94K NM_005323.3 NP_005314.2 P22492 H1T_HUMAN histone cluster 1, H1t 94 H15. cell differentiation|multicellular organismal development|nucleosome assembly|spermatogenesis nucleosome DNA binding breast(2)|endometrium(1)|lung(3)|ovary(2)|prostate(1) 9 CCAGGATTCCCTTGTTCACTA 0.483000 6 188 0 0 1 0 0 NAT2 10 broad.mit.edu 37 8 18258335 18258335 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:18258335C>T ENST00000286479.3 + 2 929 c.822C>T c.(820-822)tcC>tcT p.S274S NAT2_ENST00000520116.1_Silent_p.S144S NM_000015.2 NP_000006.2 P11245 ARY2_HUMAN N-acetyltransferase 2 (arylamine N-acetyltransferase) 274 xenobiotic metabolic process cytosol arylamine N-acetyltransferase activity kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(2) 12 Colorectal(111;0.0531)|COAD - Colon adenocarcinoma(73;0.21) TTAAGATTTCCTTGGGGAGAA 0.358000 Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of 39 48 0 0 1 0 0 ZNF366 167465 broad.mit.edu 37 5 71756703 71756703 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:71756703C>T ENST00000318442.5 - 2 1111 c.621G>A c.(619-621)caG>caA p.Q207Q NM_152625.1 NP_689838.1 Q8N895 ZN366_HUMAN zinc finger protein 366 207 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 35 Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155) OV - Ovarian serous cystadenocarcinoma(47;2.51e-53) GTTCCGGGGGCTGCTTGGGCA 0.642000 40 107 0 0 1 0 0 CYP2C8 1558 broad.mit.edu 37 10 96827158 96827158 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:96827158G>A ENST00000539050.1 - 2 591 c.30C>T c.(28-30)ttC>ttT p.F10F CYP2C8_ENST00000535898.1_Intron|CYP2C8_ENST00000371270.3_Intron P10632 CP2C8_HUMAN cytochrome P450, family 2, subfamily C, polypeptide 8 169 exogenous drug catabolic process|organic acid metabolic process|oxidative demethylation|xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|caffeine oxidase activity|electron carrier activity|heme binding|oxygen binding breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|skin(3) 21 Colorectal(252;0.0397) all cancers(201;6.21e-05) Aminophenazone(DB01424)|Amiodarone(DB01118)|Amodiaquine(DB00613)|Benzphetamine(DB00865)|Carbamazepine(DB00564)|Cerivastatin(DB00439)|Diclofenac(DB00586)|Fluvastatin(DB01095)|Fosphenytoin(DB01320)|Gemfibrozil(DB01241)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lovastatin(DB00227)|Midazolam(DB00683)|Montelukast(DB00471)|Nicardipine(DB00622)|Paclitaxel(DB01229)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Repaglinide(DB00912)|Rifampin(DB01045)|Rosiglitazone(DB00412)|Simvastatin(DB00641)|Sitagliptin(DB01261)|Tolbutamide(DB01124)|Torasemide(DB00214)|Tretinoin(DB00755)|Trimethoprim(DB00440)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zopiclone(DB01198) CACAGCCAAGGAAGAAAGTGC 0.478000 23 52 0 0 1 0 0 ARHGEF12 23365 broad.mit.edu 37 11 120312875 120312875 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:120312875C>T ENST00000397843.2 + 15 1432 c.1266C>T c.(1264-1266)ttC>ttT p.F422F ARHGEF12_ENST00000356641.3_Silent_p.F403F|ARHGEF12_ENST00000532993.1_Silent_p.F319F NM_015313.2 NP_056128.1 Q9NZN5 ARHGC_HUMAN Rho guanine nucleotide exchange factor (GEF) 12 422 RGSL. apoptosis|axon guidance|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|membrane G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity NS(1)|breast(5)|endometrium(6)|kidney(5)|large_intestine(13)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(2) 61 Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231) GTCGCATCTTCCTTGAGTTTC 0.378000 T MLL AML 4 35 0 0 1 0 0 MAN2B1 4125 broad.mit.edu 37 19 12767477 12767477 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:12767477G>A ENST00000456935.2 - 13 1592 c.1552C>T c.(1552-1554)Ctg>Ttg p.L518L MAN2B1_ENST00000495617.1_5'UTR|MAN2B1_ENST00000221363.4_Silent_p.L517L NM_000528.3|NM_001173498.1 NP_000519.2|NP_001166969.1 O00754 MA2B1_HUMAN mannosidase, alpha, class 2B, member 1 518 protein deglycosylation lysosome alpha-mannosidase activity|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 33 TTCCGCCCCAGGGGATTATAA 0.592000 50 110 0 0 1 0 0 EPPK1 83481 broad.mit.edu 37 8 144941794 144941794 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:144941794C>T ENST00000525985.1 - 2 5699 c.5628G>A c.(5626-5628)ggG>ggA p.G1876G P58107 EPIPL_HUMAN epiplakin 1 1876 cytoplasm|cytoskeleton protein binding|structural molecule activity NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) CCCCAGTCCTCCCCACACGAA 0.617000 49 66 0 0 1 0 0 C9orf78 51759 broad.mit.edu 37 9 132591793 132591793 + Silent SNP C C T rs144931603 TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:132591793C>T ENST00000372447.3 - 7 623 c.570G>A c.(568-570)acG>acA p.T190T C9orf78_ENST00000461762.1_5'UTR NM_016520.2 NP_057604.1 Q9NZ63 CI078_HUMAN chromosome 9 open reading frame 78 190 kidney(2)|lung(7)|ovary(1)|prostate(1)|stomach(2) 13 Ovarian(14;0.00556) TGGCATCCTCCGTGGAAATGA 0.473000 7 268 0 0 1 0 0 TMEFF2 23671 broad.mit.edu 37 2 192821105 192821105 + Splice_Site SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:192821105C>T ENST00000392314.1 - 8 1137 c.e8-1 TMEFF2_ENST00000272771.5_Splice_Site|AC098617.1_ENST00000424116.2_RNA|AC098617.1_ENST00000428980.2_RNA Q9UIK5 TEFF2_HUMAN transmembrane protein with EGF-like and two follistatin-like domains 2 extracellular region|integral to membrane breast(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(12)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 27 OV - Ovarian serous cystadenocarcinoma(117;0.0835) TTAGCATTCTCTGTGAATACA 0.393000 47 80 0 0 1 0 0 FOXO1 2308 broad.mit.edu 37 13 41133797 41133797 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr13:41133797C>T ENST00000379561.5 - 2 2215 c.1831G>A c.(1831-1833)Gac>Aac p.D611N NM_002015.3 NP_002006.2 Q12778 FOXO1_HUMAN forkhead box O1 611 anti-apoptosis|blood vessel development|embryo development|endocrine pancreas development|insulin receptor signaling pathway|negative regulation of stress-activated MAPK cascade|nerve growth factor receptor signaling pathway|pattern specification process|phosphatidylinositol-mediated signaling|positive regulation of transcription from RNA polymerase II promoter|regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|response to DNA damage stimulus|tissue development cytosol|transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|protein kinase binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding PAX7/FOXO1(197)|PAX3/FOXO1(749) central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1) 20 Lung NSC(96;1.18e-05)|Breast(139;0.00394)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(188;0.194) all cancers(112;7.32e-09)|Epithelial(112;2.87e-06)|OV - Ovarian serous cystadenocarcinoma(117;6.98e-05)|GBM - Glioblastoma multiforme(144;0.00394)|BRCA - Breast invasive adenocarcinoma(63;0.0815) ATGTCACAGTCTAAGCGCTCA 0.488000 61 96 0 0 1 0 0 TMEM115 11070 broad.mit.edu 37 3 50395890 50395890 + Nonsense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:50395890C>T ENST00000266025.3 - 1 1151 c.605G>A c.(604-606)tGg>tAg p.W202* XXcos-LUCA11.5_ENST00000606589.1_Intron NM_007024.4 NP_008955.1 Q12893 TM115_HUMAN transmembrane protein 115 202 negative regulation of cell proliferation Golgi apparatus|integral to membrane|nucleus breast(2)|endometrium(1)|lung(1)|prostate(1) 5 BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607) AAGATATACCCAACTGGAGAG 0.632000 13 69 0 0 1 0 0 SPEF2 79925 broad.mit.edu 37 5 35641632 35641632 + Silent SNP A A C TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:35641632A>C ENST00000440995.2 + 3 261 c.261A>C c.(259-261)acA>acC p.T87T SPEF2_ENST00000282469.6_Silent_p.T87T|SPEF2_ENST00000509059.1_Silent_p.T87T|SPEF2_ENST00000356031.3_Silent_p.T87T Q9C093 SPEF2_HUMAN sperm flagellar 2 87 CH. nucleobase, nucleoside, nucleotide and nucleic acid metabolic process ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 37 all_lung(31;7.56e-05) Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) GCATCATCACAGAAAAGCCTG 0.438000 5 172 0 0 1 0 0 CCBL2 56267 broad.mit.edu 37 1 89418754 89418754 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:89418754G>A ENST00000260508.4 - 10 1283 c.946C>T c.(946-948)Cct>Tct p.P316S CCBL2_ENST00000446900.2_5'UTR|CCBL2_ENST00000370485.2_3'UTR|CCBL2_ENST00000370491.3_Missense_Mutation_p.P282S NM_001008661.2 NP_001008661.1 Q6YP21 KAT3_HUMAN cysteine conjugate-beta lyase 2 316 biosynthetic process|kynurenine metabolic process|tryptophan catabolic process cysteine-S-conjugate beta-lyase activity|kynurenine-glyoxylate transaminase activity|kynurenine-oxoglutarate transaminase activity|pyridoxal phosphate binding endometrium(3)|kidney(4)|large_intestine(2)|lung(4)|ovary(2)|skin(2)|soft_tissue(1) 18 Lung NSC(277;0.123) all cancers(265;0.0117)|Epithelial(280;0.0341) L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114) ACCTGTAAAGGAGTTGCACAA 0.343000 16 47 0 0 1 0 0 PLB1 151056 broad.mit.edu 37 2 28852029 28852029 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:28852029G>A ENST00000422425.2 + 52 3806 c.3762G>A c.(3760-3762)ggG>ggA p.G1254G PLB1_ENST00000327757.5_Silent_p.G1265G|PLB1_ENST00000541605.1_Silent_p.G230G NM_001170585.1 NP_001164056.1 Q6P1J6 PLB1_HUMAN phospholipase B1 1265 4 X 308-326 AA approximate repeats. lipid catabolic process|retinoid metabolic process|steroid metabolic process apical plasma membrane|integral to membrane lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2) 69 Acute lymphoblastic leukemia(172;0.155) GCCAAGGCGGGAAATGTGCCA 0.617000 18 48 0 0 1 0 0 PLEKHM1P 440456 broad.mit.edu 37 17 62796923 62796923 + RNA SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:62796923G>A ENST00000582986.1 - 0 997 NR_024386.1 TGCTCAGGTAGAGGCGGAACT 0.622000 13 43 0 0 1 0 0 SOBP 55084 broad.mit.edu 37 6 107955804 107955804 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:107955804G>A ENST00000317357.5 + 6 2415 c.1756G>A c.(1756-1758)Gac>Aac p.D586N NM_018013.3 NP_060483.3 A7XYQ1 SOBP_HUMAN sine oculis binding protein homolog (Drosophila) 586 metal ion binding endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2) 26 all_cancers(87;5.26e-06)|Acute lymphoblastic leukemia(125;2.87e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.00193)|Colorectal(196;0.156) BRCA - Breast invasive adenocarcinoma(108;0.026)|all cancers(137;0.087)|Epithelial(106;0.104)|OV - Ovarian serous cystadenocarcinoma(136;0.154) GTCCCCCCGGGACTCCAAGCA 0.731000 14 22 0 0 1 0 0 PRUNE2 158471 broad.mit.edu 37 9 79403317 79403317 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:79403317C>T ENST00000376713.3 - 7 1011 c.890G>A c.(889-891)gGa>gAa p.G297E PRUNE2_ENST00000376718.3_Intron|PRUNE2_ENST00000428286.1_Intron Q8WUY3 PRUN2_HUMAN prune homolog 2 (Drosophila) 0 apoptosis|G1 phase|induction of apoptosis cytoplasm metal ion binding|pyrophosphatase activity endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1) 16 CCACTACTTTCCTCTTTGTAA 0.413000 6 15 0 0 1 0 0 ATG9B 285973 broad.mit.edu 37 7 150714297 150714297 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:150714297C>T ENST00000605938.1 - 9 2190 c.2115G>A c.(2113-2115)gaG>gaA p.E705E ATG9B_ENST00000494791.1_5'UTR|ATG9B_ENST00000444312.1_Silent_p.E191E|ATG9B_ENST00000377974.2_Silent_p.E705E NM_173681.5 NP_775952.4 Q674R7 ATG9B_HUMAN autophagy related 9B 705 autophagic vacuole assembly autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(4)|prostate(1) 14 all_neural(206;0.219) OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) TCAAAGAAAGCTCAGTCTTGC 0.592000 20 68 0 0 1 0 0 LOC202181 202181 broad.mit.edu 37 5 177059694 177059694 + RNA SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:177059694G>A ENST00000515045.1 - 0 234 NR_026921.1 AGTCCACTGCGATCTTTTGTC 0.433000 5 14 0 0 1 0 0 MPHOSPH9 10198 broad.mit.edu 37 12 123645826 123645826 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:123645826C>T ENST00000606320.1 - 22 3444 c.3238G>A c.(3238-3240)Gag>Aag p.E1080K MPHOSPH9_ENST00000541076.2_Missense_Mutation_p.E1050K|MPHOSPH9_ENST00000392425.3_Missense_Mutation_p.E928K|MPHOSPH9_ENST00000302349.5_Missense_Mutation_p.E928K Q99550 MPP9_HUMAN M-phase phosphoprotein 9 928 M phase of mitotic cell cycle centriole|Golgi membrane p.E928Q(1) NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(18)|prostate(2)|skin(1) 33 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000182)|Epithelial(86;0.00046)|BRCA - Breast invasive adenocarcinoma(302;0.169) TTATTCTTCTCCCAGGCTGTT 0.433000 62 121 0 0 1 0 0 KRBA1 84626 broad.mit.edu 37 7 149419929 149419929 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:149419929C>T ENST00000255992.10 + 7 1053 c.654C>T c.(652-654)atC>atT p.I218I KRBA1_ENST00000485033.2_Silent_p.I218I|KRBA1_ENST00000479560.1_3'UTR|KRBA1_ENST00000319551.8_Silent_p.I218I NM_032534.2 NP_115923.2 A5PL33 KRBA1_HUMAN KRAB-A domain containing 1 218 breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(17)|ovary(1)|prostate(1) 27 Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) TGAAGGAAATCCTTGTGCCTG 0.617000 27 136 0 0 1 0 0 HMGCS2 3158 broad.mit.edu 37 1 120293450 120293450 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:120293450C>T ENST00000369406.3 - 9 1551 c.1502G>A c.(1501-1503)cGa>cAa p.R501Q HMGCS2_ENST00000544913.2_Missense_Mutation_p.R459Q NM_005518.3 NP_005509.1 P54868 HMCS2_HUMAN 3-hydroxy-3-methylglutaryl-CoA synthase 2 (mitochondrial) 501 acetoacetic acid biosynthetic process|cholesterol biosynthetic process|isoprenoid biosynthetic process|ketone body biosynthetic process mitochondrial matrix hydroxymethylglutaryl-CoA synthase activity NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 28 all_cancers(5;6.38e-10)|all_epithelial(5;1.1e-10)|Melanoma(3;1.93e-05)|Breast(55;0.218)|all_neural(166;0.219) all_lung(203;1.29e-06)|Lung NSC(69;9.35e-06)|all_epithelial(167;0.00124) Lung(183;0.0112)|LUSC - Lung squamous cell carcinoma(189;0.0595) GGCATACTTTCGGCGATGCTG 0.512000 11 47 0 0 1 0 0 RNF148 378925 broad.mit.edu 37 7 122342704 122342704 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:122342704C>T ENST00000434824.1 - 1 317 c.101G>A c.(100-102)gGa>gAa p.G34E CADPS2_ENST00000449022.2_Intron|CADPS2_ENST00000412584.2_Intron|CADPS2_ENST00000313070.7_Intron|CADPS2_ENST00000334010.7_Intron|RNF148_ENST00000447240.1_Missense_Mutation_p.G34E NM_198085.1 NP_932351.1 Q8N7C7 RN148_HUMAN ring finger protein 148 34 integral to membrane zinc ion binding endometrium(2)|kidney(1)|large_intestine(6)|lung(7) 16 AATGGCTTTTCCGTTTGAGTC 0.418000 12 59 0 0 1 0 0 SPRR2G 6706 broad.mit.edu 37 1 153122541 153122541 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:153122541G>A ENST00000368748.4 - 2 84 c.46C>T c.(46-48)Cct>Tct p.P16S NM_001014291.3 NP_001014313.1 Q9BYE4 SPR2G_HUMAN small proline-rich protein 2G 16 keratinization cornified envelope|cytoplasm endometrium(1)|lung(1)|skin(1) 3 all_lung(78;1.78e-30)|Lung NSC(65;7.29e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.171) GGGCACACAGGAGGTGGCTGG 0.572000 8 220 0 0 1 0 0 SYT15 83849 broad.mit.edu 37 10 46965099 46965099 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:46965099G>A ENST00000374323.3 - 5 1592 c.1005C>T c.(1003-1005)ctC>ctT p.L335L SYT15_ENST00000374325.3_Silent_p.L282L|SYT15_ENST00000374321.4_Silent_p.L282L|SYT15_ENST00000503753.1_Silent_p.L282L|RP11-38L15.3_ENST00000506914.1_RNA Q9BQS2 SYT15_HUMAN synaptotagmin XV 282 C2 2. integral to membrane|plasma membrane cervix(1)|endometrium(5)|kidney(2)|lung(5) 13 GGCAGAACTGGAGGTCGCCAA 0.627000 7 102 0 0 1 0 0 LRRC4B 94030 broad.mit.edu 37 19 51022373 51022373 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:51022373C>T ENST00000599957.1 - 3 794 c.597G>A c.(595-597)tcG>tcA p.S199S LRRC4B_ENST00000389201.3_Silent_p.S199S Q9NT99 LRC4B_HUMAN leucine rich repeat containing 4B 199 cell junction|integral to membrane|presynaptic membrane breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(1)|lung(11)|prostate(4)|skin(1)|urinary_tract(1) 30 all_neural(266;0.131) OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188) AGGCCGCCTCCGAGATGTATT 0.657000 31 58 0 0 1 0 0 CCDC135 84229 broad.mit.edu 37 16 57732922 57732922 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr16:57732922G>A ENST00000360716.3 + 4 585 c.364G>A c.(364-366)Gag>Aag p.E122K CCDC135_ENST00000336825.8_Missense_Mutation_p.E122K|CCDC135_ENST00000394337.4_Missense_Mutation_p.E122K|RP11-405F3.4_ENST00000563062.1_RNA Q8IY82 CC135_HUMAN coiled-coil domain containing 135 122 cytoplasm breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 30 CCCCCTGAACGAGTGTGAAGT 0.642000 34 153 0 0 1 0 0 ALOX12B 242 broad.mit.edu 37 17 7980484 7980484 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:7980484G>A ENST00000319144.4 - 9 1359 c.1099C>T c.(1099-1101)Ccc>Tcc p.P367S ALOX12B_ENST00000577351.1_5'UTR NM_001139.2 NP_001130.1 O75342 LX12B_HUMAN arachidonate 12-lipoxygenase, 12R type 367 Lipoxygenase. epidermis development|leukotriene biosynthetic process arachidonate 12-lipoxygenase activity|iron ion binding|lipoxygenase activity endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|stomach(1) 16 AGGAAGATGGGGCAATCTGGC 0.602000 Multiple Myeloma(8;0.094) 12 34 0 0 1 0 0 DDX31 64794 broad.mit.edu 37 9 135545421 135545421 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:135545421C>T ENST00000372159.3 - 1 367 c.216G>A c.(214-216)agG>agA p.R72R DDX31_ENST00000372153.1_Silent_p.R72R|DDX31_ENST00000480876.1_5'UTR|GTF3C4_ENST00000372146.4_Intron|DDX31_ENST00000310532.2_Silent_p.R72R|GTF3C4_ENST00000483873.2_Intron NM_022779.7 NP_073616.6 Q9H8H2 DDX31_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 31 72 nucleolus ATP binding|ATP-dependent helicase activity|RNA binding breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(1) 27 OV - Ovarian serous cystadenocarcinoma(145;2.67e-06)|Epithelial(140;7.61e-05) CGCCACCGCCCCTTCCGGGTC 0.751000 10 6 0 0 1 0 0 PARVG 64098 broad.mit.edu 37 22 44581753 44581753 + Splice_Site SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr22:44581753G>A ENST00000422871.1 + 4 568 c.e4+1 PARVG_ENST00000453888.3_Splice_Site|PARVG_ENST00000444313.2_Splice_Site|PARVG_ENST00000415224.1_Splice_Site NM_001137605.1 NP_001131077.1 Q9HBI0 PARVG_HUMAN parvin, gamma cell-matrix adhesion cytoplasm|cytoskeleton|focal adhesion actin binding endometrium(2)|kidney(1)|large_intestine(4)|lung(10) 17 Ovarian(80;0.024)|all_neural(38;0.0299) ACTGCAGAAGGTACAGCAGCC 0.607000 24 31 0 0 1 0 0 ZFHX4 79776 broad.mit.edu 37 8 77764826 77764826 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:77764826C>T ENST00000521891.2 + 10 6117 c.5669C>T c.(5668-5670)tCc>tTc p.S1890F ZFHX4_ENST00000455469.2_Missense_Mutation_p.S1845F|ZFHX4_ENST00000050961.6_Missense_Mutation_p.S1845F|ZFHX4_ENST00000518282.1_Missense_Mutation_p.S1864F NM_024721.4 NP_078997.4 Q86UP3 ZFHX4_HUMAN zinc finger homeobox 4 1845 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.S1890Y(1) NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6) 432 BRCA - Breast invasive adenocarcinoma(89;0.0895) AAGCAAAAATCCTTGGAACCA 0.433000 HNSCC(33;0.089) 15 18 0 0 1 0 0 TRIM48 79097 broad.mit.edu 37 11 55033101 55033101 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:55033101C>T ENST00000417545.2 + 3 571 c.485C>T c.(484-486)tCt>tTt p.S162F NM_024114.3 NP_077019.2 Q8IWZ4 TRI48_HUMAN tripartite motif containing 48 146 intracellular zinc ion binding endometrium(13)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 38 AAAATGCAGTCTTTATGGGAA 0.423000 7 64 0 0 1 0 0 OR4Q3 441669 broad.mit.edu 37 14 20215708 20215708 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr14:20215708G>A ENST00000331723.1 + 1 122 c.122G>A c.(121-123)gGa>gAa p.G41E NM_172194.1 NP_751944.1 Q8NH05 OR4Q3_HUMAN olfactory receptor, family 4, subfamily Q, member 3 41 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2) 47 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) ATTGTCCTGGGAAACCTCTTG 0.398000 66 126 0 0 1 0 0 DSG3 1830 broad.mit.edu 37 18 29039024 29039024 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr18:29039024G>A ENST00000257189.4 + 5 484 c.401G>A c.(400-402)gGa>gAa p.G134E NM_001944.2 NP_001935.2 P32926 DSG3_HUMAN desmoglein 3 134 Cadherin 1. cellular component disassembly involved in apoptosis|homophilic cell adhesion cytosol|desmosome|integral to membrane calcium ion binding breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1) 62 OV - Ovarian serous cystadenocarcinoma(10;0.00504) AATGCCCAAGGACTAGATGTA 0.328000 17 60 0 0 1 0 0 CNTN5 53942 broad.mit.edu 37 11 99786792 99786792 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:99786792G>A ENST00000524871.1 + 7 874 c.584G>A c.(583-585)gGa>gAa p.G195E CNTN5_ENST00000528682.1_Missense_Mutation_p.G195E|CNTN5_ENST00000527185.1_Missense_Mutation_p.G195E|CNTN5_ENST00000279463.3_Missense_Mutation_p.G195E|CNTN5_ENST00000418526.2_Missense_Mutation_p.G121E NM_014361.3 NP_055176.1 O94779 CNTN5_HUMAN contactin 5 195 cell adhesion anchored to membrane|plasma membrane protein binding p.G195E(1) NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 81 all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219) BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196) ACAGATCTGGGAAATTTTAGT 0.423000 8 11 0 0 1 0 0 FAM90A1 55138 broad.mit.edu 37 12 8376074 8376074 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:8376074C>T ENST00000538603.1 - 6 961 c.403G>A c.(403-405)Gga>Aga p.G135R FAM90A1_ENST00000307435.6_Missense_Mutation_p.G135R NM_018088.3 NP_060558.3 Q86YD7 F90A1_HUMAN family with sequence similarity 90, member A1 135 nucleic acid binding|zinc ion binding endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 25 Kidney(36;0.0866) TCCGTGGATCCTTTTTGATTT 0.517000 40 235 0 0 1 0 0 OR4Q3 441669 broad.mit.edu 37 14 20216515 20216515 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr14:20216515C>T ENST00000331723.1 + 1 929 c.929C>T c.(928-930)cCa>cTa p.P310L NM_172194.1 NP_751944.1 Q8NH05 OR4Q3_HUMAN olfactory receptor, family 4, subfamily Q, member 3 310 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2) 47 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) TGTGGCATTCCATTGCCTTGT 0.393000 16 28 0 0 1 0 0 BRINP2 57795 broad.mit.edu 37 1 177226514 177226514 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:177226514C>T ENST00000361539.4 + 4 975 c.663C>T c.(661-663)gcC>gcT p.A221A FAM5B_ENST00000478325.1_3'UTR NM_021165.2 NP_066988.1 Q9C0B6 FAM5B_HUMAN 221 extracellular region breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(21)|liver(1)|lung(41)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 94 CCACGGGGGCCATCAAGGTAA 0.617000 23 21 0 0 1 0 0 RNF217 154214 broad.mit.edu 37 6 125397908 125397908 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:125397908G>A ENST00000521654.2 + 4 1387 c.1387G>A c.(1387-1389)Gga>Aga p.G463R RNF217_ENST00000368414.2_Missense_Mutation_p.G25R|RNF217_ENST00000560949.1_Missense_Mutation_p.G228R|RNF217_ENST00000359704.2_Missense_Mutation_p.G171R|RNF217_ENST00000275184.6_Missense_Mutation_p.G107R Q8TC41 RN217_HUMAN ring finger protein 217 171 protein ubiquitination involved in ubiquitin-dependent protein catabolic process integral to membrane ubiquitin-protein ligase activity|zinc ion binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(1) 11 LUSC - Lung squamous cell carcinoma(4;0.0263)|Lung(4;0.0828) GBM - Glioblastoma multiforme(226;0.0162) CCGATTTTTTGGAGACCACAC 0.453000 45 111 0 0 1 0 0 CELSR3 1951 broad.mit.edu 37 3 48677271 48677271 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:48677271G>A ENST00000544264.1 - 35 10042 c.9762C>T c.(9760-9762)atC>atT p.I3254I CELSR3_ENST00000164024.4_Silent_p.I3249I Q9NYQ7 CELR3_HUMAN cadherin, EGF LAG seven-pass G-type receptor 3 3249 homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity|protein binding NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 83 BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619) AAGAGGCAAGGATGGAGGAAA 0.607000 21 221 0 0 1 0 0 KHNYN 23351 broad.mit.edu 37 14 24901147 24901147 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr14:24901147C>T ENST00000251343.5 + 3 819 c.680C>T c.(679-681)cCc>cTc p.P227L KHNYN_ENST00000556842.1_Missense_Mutation_p.P227L|KHNYN_ENST00000553935.1_Missense_Mutation_p.P227L O15037 KHNYN_HUMAN KH and NYN domain containing 227 kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(3) 24 GTGAGAGCTCCCCCTAGTGAC 0.642000 OREG0022627 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 43 92 0 0 1 0 0 DNAH1 25981 broad.mit.edu 37 3 52426950 52426950 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:52426950C>T ENST00000420323.2 + 65 10644 c.10383C>T c.(10381-10383)tcC>tcT p.S3461S NM_015512.4 NP_056327.4 Q9P2D7 DYH1_HUMAN dynein, axonemal, heavy chain 1 3526 AAA 5 (By similarity). ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1) 62 BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) TCTGTGTGTCCGACCTGGCCA 0.567000 80 237 0 0 1 0 0 SCN4A 6329 broad.mit.edu 37 17 62018650 62018650 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:62018650C>T ENST00000578147.1 - 24 5068 c.4992G>A c.(4990-4992)ctG>ctA p.L1664L SCN4A_ENST00000435607.1_Silent_p.L1664L P35499 SCN4A_HUMAN sodium channel, voltage-gated, type IV, alpha subunit 1664 muscle contraction voltage-gated sodium channel complex voltage-gated sodium channel activity breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 101 Lamotrigine(DB00555) TGGGCAAGTCCAGTGTGATGA 0.582000 40 146 0 0 1 0 0 GABRG1 2565 broad.mit.edu 37 4 46099293 46099293 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:46099293G>A ENST00000295452.4 - 2 345 c.178C>T c.(178-180)Cat>Tat p.H60Y NM_173536.3 NP_775807.2 Q8N1C3 GBRG1_HUMAN gamma-aminobutyric acid (GABA) A receptor, gamma 1 60 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 76 Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23) TCTCCTTCATGAATTTTTGGG 0.368000 53 134 0 0 1 0 0 CACNA1I 8911 broad.mit.edu 37 22 40043848 40043848 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr22:40043848G>A ENST00000336649.4 + 11 1484 c.1484G>A c.(1483-1485)gGa>gAa p.G495E CACNA1I_ENST00000401624.1_Missense_Mutation_p.G495E|CACNA1I_ENST00000400164.3_Intron|CACNA1I_ENST00000407673.1_Intron|CACNA1I_ENST00000404898.1_Intron|CACNA1I_ENST00000402142.3_Missense_Mutation_p.G495E Q9P0X4 CAC1I_HUMAN calcium channel, voltage-dependent, T type, alpha 1I subunit 495 axon guidance|signal transduction voltage-gated calcium channel complex low voltage-gated calcium channel activity|protein binding breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 60 Melanoma(58;0.0749) Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661) aagggtcagggagatgaaggg 0.537000 44 72 0 0 1 0 0 PCDHB2 56133 broad.mit.edu 37 5 140475133 140475133 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:140475133C>T ENST00000194155.4 + 1 907 c.759C>T c.(757-759)atC>atT p.I253I NM_018936.2 NP_061759.1 Q9Y5E7 PCDB2_HUMAN 253 Cadherin 3. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2) 71 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) AGGTGCAGATCCCGGAGGACA 0.522000 35 66 0 0 1 0 0 METTL17 64745 broad.mit.edu 37 14 21464975 21464975 + Missense_Mutation SNP T T G TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr14:21464975T>G ENST00000339374.6 + 14 1530 c.1297T>G c.(1297-1299)Tgg>Ggg p.W433G RP11-84C10.4_ENST00000557335.1_RNA|METTL17_ENST00000556670.2_Missense_Mutation_p.W424G|METTL17_ENST00000382985.4_Missense_Mutation_p.L457R NM_001029991.1|NM_022734.2 NP_001025162.1|NP_073571.1 Q9H7H0 MET17_HUMAN methyltransferase like 17 433 translation mitochondrion|ribosome copper ion binding|methyltransferase activity central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(2) 20 TGTCAGCTCCTGGGGAGATCT 0.522000 42 134 0 0 1 0 0 PCDHGA8 9708 broad.mit.edu 37 5 140774643 140774643 + Nonsense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:140774643C>T ENST00000398604.2 + 1 2263 c.2263C>T c.(2263-2265)Cag>Tag p.Q755* PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron NM_032088.1 NP_114477.1 endometrium(6)|kidney(6)|large_intestine(6)|lung(30)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1) 51 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GACCTATTCCCAGGAAGTCTC 0.567000 27 93 0 0 1 0 0 ADAMTS15 170689 broad.mit.edu 37 11 130332574 130332574 + Nonsense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:130332574C>T ENST00000299164.2 + 4 1441 c.1441C>T c.(1441-1443)Cag>Tag p.Q481* NM_139055.2 NP_620686.1 Q8TE58 ATS15_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 15 481 Disintegrin. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(8)|urinary_tract(1) 36 all_hematologic(175;0.0429) Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215) GATGGTGTGCCAGACCCGCCA 0.627000 24 49 0 0 1 0 0 FAT4 79633 broad.mit.edu 37 4 126329628 126329628 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:126329628G>A ENST00000394329.3 + 4 5612 c.5599G>A c.(5599-5601)Gat>Aat p.D1867N FAT4_ENST00000335110.5_Missense_Mutation_p.D165N NM_024582.4 NP_078858.4 Q6V0I7 FAT4_HUMAN FAT atypical cadherin 4 1867 Cadherin 18. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6) 355 TTTAGCCACGGATGATGACTC 0.323000 42 97 0 0 1 0 0 ATP6V1G3 127124 broad.mit.edu 37 1 198492664 198492664 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:198492664C>T ENST00000367381.1 - 5 337 c.232G>A c.(232-234)Gaa>Aaa p.E78K ATP6V1G3_ENST00000367382.1_Missense_Mutation_p.E72K|ATP6V1G3_ENST00000489986.1_Missense_Mutation_p.E78K|ATP6V1G3_ENST00000281087.2_Missense_Mutation_p.E72K|ATP6V1G3_ENST00000309309.7_3'UTR Q96LB4 VATG3_HUMAN ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G3 72 cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport cytosol|plasma membrane|vacuolar proton-transporting V-type ATPase complex ATPase binding central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|prostate(1) 7 TCTTCTATTTCATCTGAGAGA 0.348000 17 72 0 0 1 0 0 LIFR 3977 broad.mit.edu 37 5 38482167 38482167 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:38482167C>T ENST00000263409.4 - 20 2986 c.2824G>A c.(2824-2826)Gaa>Aaa p.E942K LIFR_ENST00000453190.2_Missense_Mutation_p.E942K NM_002310.5 NP_002301.1 P42702 LIFR_HUMAN leukemia inhibitory factor receptor alpha 942 positive regulation of cell proliferation extracellular region|integral to plasma membrane ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2) 78 all_lung(31;0.00021) ACATGGTTTTCAGGCTCTGCA 0.453000 T PLAG1 salivary adenoma 85 334 0 0 1 0 0 CA11 770 broad.mit.edu 37 19 49142303 49142303 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:49142303G>A ENST00000084798.4 - 8 1482 c.803C>T c.(802-804)tCc>tTc p.S268F SEC1P_ENST00000430145.2_RNA NM_001217.3 NP_001208.2 O75493 CAH11_HUMAN carbonic anhydrase XI 268 extracellular region breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8) 14 all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) OV - Ovarian serous cystadenocarcinoma(262;0.000103)|all cancers(93;0.000119)|GBM - Glioblastoma multiforme(486;0.00634)|Epithelial(262;0.016) GAGTCTCAGGGAGTGCATCTG 0.622000 18 43 0 0 1 0 0 DKK4 27121 broad.mit.edu 37 8 42231776 42231776 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:42231776C>T ENST00000220812.2 - 4 703 c.517G>A c.(517-519)Gga>Aga p.G173R NM_014420.2 NP_055235.1 Q9UBT3 DKK4_HUMAN dickkopf WNT signaling pathway inhibitor 4 173 DKK-type Cys-2. multicellular organismal development|negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway extracellular region NS(1)|endometrium(1)|large_intestine(7)|lung(3)|ovary(1)|upper_aerodigestive_tract(1) 14 all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;2.58e-12)|Lung NSC(13;4.24e-11)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.1)|Lung SC(25;0.211) all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954) BRCA - Breast invasive adenocarcinoma(8;3.48e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00523)|Lung(22;0.00597)|LUSC - Lung squamous cell carcinoma(45;0.024) CAGACCTGTCCCTCCAAAAGG 0.493000 42 106 0 0 1 0 0 SPTA1 6708 broad.mit.edu 37 1 158653263 158653263 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:158653263G>A ENST00000368148.3 - 3 468 c.288C>T c.(286-288)tcC>tcT p.S96S SPTA1_ENST00000368147.3_Silent_p.S96S NM_003126.2 NP_003117.2 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 (elliptocytosis 2) 96 actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6) 307 all_hematologic(112;0.0378) CTGCTTCAAGGGATTGATGCT 0.403000 5 127 0 0 1 0 0 METTL6 131965 broad.mit.edu 37 3 15457442 15457442 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:15457442G>A ENST00000443029.1 - 4 608 c.368C>T c.(367-369)cCt>cTt p.P123L METTL6_ENST00000450816.2_Missense_Mutation_p.P78L|METTL6_ENST00000383789.5_Missense_Mutation_p.P123L|METTL6_ENST00000383790.3_Missense_Mutation_p.P123L Q8TCB7 METL6_HUMAN methyltransferase like 6 123 methyltransferase activity endometrium(1)|kidney(1)|large_intestine(9)|lung(3)|prostate(1) 15 ATCATATAAAGGATTTTGCTA 0.373000 8 87 0 0 1 0 0 KIAA1462 57608 broad.mit.edu 37 10 30316266 30316266 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:30316266C>T ENST00000375377.1 - 3 2912 c.2811G>A c.(2809-2811)gtG>gtA p.V937V NM_020848.2 NP_065899.1 Q9P266 K1462_HUMAN KIAA1462 937 breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1) 75 CACCTTCTTCCACGCGAAAGC 0.607000 45 82 0 0 1 0 0 UGT8 7368 broad.mit.edu 37 4 115544645 115544645 + Silent SNP C C G TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:115544645C>G ENST00000310836.6 + 2 1131 c.609C>G c.(607-609)tcC>tcG p.S203S UGT8_ENST00000394511.3_Silent_p.S203S NM_001128174.1 NP_001121646.1 Q16880 CGT_HUMAN UDP glycosyltransferase 8 203 central nervous system development|peripheral nervous system development integral to membrane 2-hydroxyacylsphingosine 1-beta-galactosyltransferase activity|UDP-galactose:glucosylceramide beta-1,4-galactosyltransferase activity breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 31 Ovarian(17;0.156) OV - Ovarian serous cystadenocarcinoma(123;0.000632) ACCTCATTTCCAGATTAGGGG 0.448000 10 142 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179574293 179574293 + Splice_Site SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:179574293C>T ENST00000589042.1 - 99 28977 c.28753_splice c.e99+1 p.E9585_splice TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Splice_Site_p.E9268_splice|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Splice_Site_p.E8341_splice|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000431752.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 9268 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GATAACTCACCTTTGATGACG 0.438000 22 37 0 0 1 0 0 CHL1 10752 broad.mit.edu 37 3 401977 401977 + Missense_Mutation SNP T T G TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:401977T>G ENST00000256509.2 + 12 1818 c.1176T>G c.(1174-1176)ttT>ttG p.F392L CHL1_ENST00000397491.2_Missense_Mutation_p.F376L NM_001253387.1|NM_001253388.1|NM_006614.3 NP_001240316.1|NP_001240317.1|NP_006605.2 O00533 CHL1_HUMAN cell adhesion molecule L1-like 376 Ig-like C2-type 4. axon guidance|cell adhesion|signal transduction integral to membrane|plasma membrane|proteinaceous extracellular matrix NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1) 93 all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201) Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198) ATCATCCATTTGCTGGTGATG 0.358000 28 75 0 0 1 0 0 RPS2 6187 broad.mit.edu 37 16 2013234 2013234 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr16:2013234G>A ENST00000529806.1 - 2 387 c.201C>T c.(199-201)ttC>ttT p.F67F RPS2_ENST00000343262.4_Silent_p.F97F|RPS2_ENST00000530225.1_Silent_p.F97F|RPS2_ENST00000526522.1_Silent_p.F97F P15880 RS2_HUMAN ribosomal protein S2 97 endocrine pancreas development|translational elongation|translational termination|viral transcription cytosolic small ribosomal subunit|nucleoplasm fibroblast growth factor 1 binding|fibroblast growth factor 3 binding|RNA binding|structural constituent of ribosome endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|urinary_tract(2) 7 AGGCCCCCAGGAAGAAATCAA 0.448000 4 14 0 0 1 0 0 PLEKHA4 57664 broad.mit.edu 37 19 49351192 49351192 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:49351192G>A ENST00000263265.6 - 14 2086 c.1531C>T c.(1531-1533)Ccc>Tcc p.P511S PLEKHA4_ENST00000355496.5_Missense_Mutation_p.P486S NM_020904.2 NP_065955.2 Q9H4M7 PKHA4_HUMAN pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4 511 cytoplasm|membrane 1-phosphatidylinositol binding NS(1)|breast(5)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2) 30 all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;0.000108)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.00027)|all cancers(93;0.00084)|GBM - Glioblastoma multiforme(486;0.0244)|Epithelial(262;0.0364) TGGAGCACGGGAGATGGGGAG 0.602000 19 45 0 0 1 0 0 IP6K1 9807 broad.mit.edu 37 3 49785265 49785265 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:49785265G>A ENST00000321599.4 - 2 510 c.209C>T c.(208-210)aCc>aTc p.T70I IP6K1_ENST00000395238.1_Intron|IP6K1_ENST00000468463.1_Missense_Mutation_p.T70I|IP6K1_ENST00000460540.1_Intron NM_001242829.1|NM_153273.3 NP_001229758.1|NP_695005.1 Q92551 IP6K1_HUMAN inositol hexakisphosphate kinase 1 70 phosphatidylinositol phosphorylation cytoplasm|nucleus ATP binding|inositol hexakisphosphate 5-kinase activity|inositol trisphosphate 3-kinase activity breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(2)|skin(2) 15 GTATTCAGGGGTGAACTCCTT 0.507000 14 42 0 0 1 0 0 KLHL38 340359 broad.mit.edu 37 8 124663857 124663857 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:124663857C>T ENST00000325995.7 - 1 1333 c.1310G>A c.(1309-1311)gGa>gAa p.G437E CTD-2552K11.2_ENST00000524355.1_RNA NM_001081675.2 NP_001075144.2 Q2WGJ6 KLH38_HUMAN kelch-like family member 38 437 breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(16)|pancreas(1)|prostate(3)|stomach(1) 38 GTCCTCTCCTCCAAAGAGATA 0.537000 89 132 0 0 1 0 0 FRG1 2483 broad.mit.edu 37 4 190878601 190878601 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:190878601G>A ENST00000226798.4 + 6 703 c.481G>A c.(481-483)Gaa>Aaa p.E161K FRG1_ENST00000514482.1_3'UTR NM_004477.2 NP_004468.1 Q14331 FRG1_HUMAN FSHD region gene 1 161 rRNA processing Cajal body|catalytic step 2 spliceosome|nuclear speck|nucleolus NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1) 32 all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147) all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161) TAGATGCAATGAAGCAGGGGA 0.378000 6 84 0 0 1 0 0 LOC150776 150776 broad.mit.edu 37 2 132275369 132275369 + RNA SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:132275369C>T ENST00000438378.2 + 0 1642 NR_026922.1 ACCGCGCACTCCGCACAGACC 0.587000 18 34 0 0 1 0 0 GJA10 84694 broad.mit.edu 37 6 90604924 90604924 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:90604924C>T ENST00000369352.1 + 1 737 c.737C>T c.(736-738)tCc>tTc p.S246F NM_032602.1 NP_115991.1 Q969M2 CXA10_HUMAN gap junction protein, alpha 10, 62kDa 246 synaptic transmission connexon complex|integral to membrane gap junction channel activity breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|skin(3)|urinary_tract(1) 37 all_cancers(76;5.71e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00527) BRCA - Breast invasive adenocarcinoma(108;0.0915) TATAAGAAATCCAGCAGTGAG 0.393000 53 81 0 0 1 0 0 SPEG 10290 broad.mit.edu 37 2 220341617 220341617 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:220341617G>A ENST00000312358.7 + 19 4605 c.4473G>A c.(4471-4473)atG>atA p.M1491I SPEG_ENST00000485813.1_3'UTR NM_005876.4 NP_005867.3 Q15772 SPEG_HUMAN SPEG complex locus 1491 Ig-like 8. muscle organ development|negative regulation of cell proliferation nucleus ATP binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4) 100 Renal(207;0.0183) Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163) AGTCCATCATGGAGGACGTGG 0.607000 12 133 0 0 1 0 0 SLC12A4 6560 broad.mit.edu 37 16 67980408 67980408 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr16:67980408G>A ENST00000422611.2 - 17 2415 c.2376C>T c.(2374-2376)tcC>tcT p.S792S SLC12A4_ENST00000576616.1_Silent_p.S790S|SLC12A4_ENST00000338335.3_Intron|SLC12A4_ENST00000537830.2_Silent_p.S784S|SLC12A4_ENST00000316341.3_Silent_p.S790S|SLC12A4_ENST00000572037.1_Silent_p.S742S|SLC12A4_ENST00000541864.2_Silent_p.S759S NM_001145962.1 NP_001139434.1 Q9UP95 S12A4_HUMAN solute carrier family 12 (potassium/chloride transporter), member 4 790 cell volume homeostasis|potassium ion transport|sodium ion transport integral to plasma membrane|membrane fraction potassium:chloride symporter activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|prostate(4)|skin(2)|urinary_tract(3) 29 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121) Bumetanide(DB00887)|Potassium Chloride(DB00761) CCAGCACCACGGAGTTATGCC 0.677000 33 43 0 0 1 0 0 DNAH17 8632 broad.mit.edu 37 17 76471834 76471834 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:76471834G>A ENST00000389840.5 - 53 8318 c.8194C>T c.(8194-8196)Cct>Tct p.P2732S DNAH17_ENST00000585328.1_Missense_Mutation_p.P2741S|DNAH17_ENST00000586052.1_5'UTR dynein, axonemal, heavy chain 17 NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 116 BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656) TCGGTTACAGGAACATATTTG 0.443000 16 37 0 0 1 0 0 NR5A2 2494 broad.mit.edu 37 1 200089954 200089954 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:200089954G>A ENST00000367362.3 + 7 1495 c.1249G>A c.(1249-1251)Gca>Aca p.A417T NR5A2_ENST00000236914.3_Missense_Mutation_p.A371T|NR5A2_ENST00000544748.1_Missense_Mutation_p.A345T NM_001276464.1|NM_205860.1 NP_001263393.1|NP_995582.1 O00482 NR5A2_HUMAN nuclear receptor subfamily 5, group A, member 2 417 embryo development|positive regulation of viral genome replication|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor cytoplasm|nucleoplasm lipid binding|protein binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 31 Prostate(682;0.19) TTCCATAATAGCATCACAAGC 0.423000 4 111 0 0 1 0 0 ZNF341 84905 broad.mit.edu 37 20 32336799 32336799 + Missense_Mutation SNP G G C TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr20:32336799G>C ENST00000375200.1 + 4 775 c.410G>C c.(409-411)aGc>aCc p.S137T ZNF341_ENST00000342427.2_Missense_Mutation_p.S137T Q9BYN7 ZN341_HUMAN zinc finger protein 341 137 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3) 31 ATCTTGGTGAGCGATGATGTG 0.587000 24 54 0 0 1 0 0 CCM2L 140706 broad.mit.edu 37 20 30602742 30602742 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr20:30602742C>T ENST00000300415.8 + 2 79 c.66C>T c.(64-66)ccC>ccT p.P22P CCM2L_ENST00000262659.8_Silent_p.P22P cerebral cavernous malformation 2-like TGGTGTTCCCCAAGGCCGGGC 0.602000 89 196 0 0 1 0 0 COL14A1 7373 broad.mit.edu 37 8 121381663 121381663 + Silent SNP A A G TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:121381663A>G ENST00000297848.3 + 47 5520 c.5250A>G c.(5248-5250)caA>caG p.Q1750Q COL14A1_ENST00000309791.4_Silent_p.Q1750Q|COL14A1_ENST00000247781.3_Silent_p.Q1655Q NM_021110.1 NP_066933.1 Q05707 COEA1_HUMAN collagen, type XIV, alpha 1 1750 Triple-helical region 2 (COL1). cell-cell adhesion|collagen fibril organization collagen type XIV|extracellular space collagen binding|extracellular matrix structural constituent|protein binding, bridging NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2) 119 Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161) OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503) CTGGACCCCAAGGTCCTTCTG 0.592000 44 81 0 0 1 0 0 ITGB4 3691 broad.mit.edu 37 17 73744921 73744921 + Splice_Site SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:73744921G>A ENST00000200181.3 + 27 3298 c.e27-1 ITGB4_ENST00000449880.2_Splice_Site|ITGB4_ENST00000339591.3_Splice_Site|ITGB4_ENST00000579662.1_Splice_Site|ITGB4_ENST00000450894.3_Splice_Site NM_000213.3 NP_000204.3 P16144 ITB4_HUMAN integrin, beta 4 cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding cell leading edge|cell surface|hemidesmosome|integrin complex protein binding|receptor activity breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1) 43 all_cancers(13;1.5e-07) all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154) TCCACTCCCAGGACTACATCC 0.622000 4 21 0 0 1 0 0 CCR6 1235 broad.mit.edu 37 6 167550735 167550735 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:167550735G>A ENST00000341935.5 + 3 1569 c.1017G>A c.(1015-1017)agG>agA p.R339R CCR6_ENST00000400926.2_Silent_p.R339R|CCR6_ENST00000349984.4_Silent_p.R339R NM_031409.3 NP_113597.2 P51684 CCR6_HUMAN chemokine (C-C motif) receptor 6 339 cellular defense response|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|humoral immune response integral to plasma membrane C-C chemokine receptor activity endometrium(3)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1) 14 Breast(66;1.53e-05)|Ovarian(120;0.0606) OV - Ovarian serous cystadenocarcinoma(33;8.21e-20)|BRCA - Breast invasive adenocarcinoma(81;4.55e-06)|GBM - Glioblastoma multiforme(31;0.00507) GTGTGAGAAGGAAGTACAAGT 0.502000 44 71 0 0 1 0 0 FAM153B 202134 broad.mit.edu 37 5 175528581 175528581 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:175528581G>A ENST00000253490.4 + 12 718 c.661G>A c.(661-663)Gaa>Aaa p.E221K FAM153B_ENST00000510151.1_Missense_Mutation_p.E144K|FAM153B_ENST00000515817.1_Missense_Mutation_p.E144K|FAM153B_ENST00000512862.1_Intron P0C7A2 F153B_HUMAN family with sequence similarity 153, member B 221 p.E221K(1)|p.E221*(1) endometrium(3)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|prostate(1) 16 all_cancers(89;0.00406)|Renal(175;0.000269)|Lung NSC(126;0.0103)|all_lung(126;0.0164) Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183) Kidney(146;0.0965) CACACTGGCCGAACGTACGTA 0.463000 20 203 0 0 1 0 0 DSG3 1830 broad.mit.edu 37 18 29039894 29039894 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr18:29039894G>A ENST00000257189.4 + 6 687 c.604G>A c.(604-606)Gaa>Aaa p.E202K NM_001944.2 NP_001935.2 P32926 DSG3_HUMAN desmoglein 3 202 Cadherin 2. cellular component disassembly involved in apoptosis|homophilic cell adhesion cytosol|desmosome|integral to membrane calcium ion binding breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1) 62 OV - Ovarian serous cystadenocarcinoma(10;0.00504) TGTCTCTCAGGAACCAGCAGG 0.458000 18 45 0 0 1 0 0 IQGAP2 10788 broad.mit.edu 37 5 75993819 75993819 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:75993819G>A ENST00000274364.6 + 33 4511 c.4214G>A c.(4213-4215)cGa>cAa p.R1405Q IQGAP2_ENST00000502745.1_Missense_Mutation_p.R901Q|CTD-2384B11.2_ENST00000507514.1_RNA|IQGAP2_ENST00000396234.3_Missense_Mutation_p.R901Q|IQGAP2_ENST00000379730.3_Missense_Mutation_p.R907Q NM_006633.2 NP_006624.2 Q13576 IQGA2_HUMAN IQ motif containing GTPase activating protein 2 1405 small GTPase mediated signal transduction actin cytoskeleton actin binding|calmodulin binding|GTPase inhibitor activity|Ras GTPase activator activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 68 all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149) all cancers(79;1.38e-36) TAGGATATTCGAAATCAAAGA 0.363000 22 29 0 0 1 0 0 FAM83G 644815 broad.mit.edu 37 17 18906832 18906832 + Splice_Site SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:18906832C>T ENST00000388995.6 - 2 746 c.e2+1 SLC5A10_ENST00000317977.6_Intron|SLC5A10_ENST00000395647.2_Intron|SLC5A10_ENST00000395645.3_Intron|SLC5A10_ENST00000395643.2_Intron|SLC5A10_ENST00000417251.2_Intron|FAM83G_ENST00000345041.4_Splice_Site|SLC5A10_ENST00000395642.1_Intron|FAM83G_ENST00000585154.2_Splice_Site A6ND36 FA83G_HUMAN family with sequence similarity 83, member G central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(3)|stomach(1) 22 CGCTGCCTCACCTTCTGTGCC 0.647000 24 47 0 0 1 0 0 DSEL 92126 broad.mit.edu 37 18 65181491 65181491 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr18:65181491C>T ENST00000310045.7 - 2 1858 c.385G>A c.(385-387)Gaa>Aaa p.E129K NM_032160.2 NP_115536.1 Q8IZU8 DSEL_HUMAN dermatan sulfate epimerase-like 119 integral to membrane isomerase activity|sulfotransferase activity NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 74 Esophageal squamous(42;0.129) CCATAAATTTCATTCCACTTG 0.403000 36 81 0 0 1 0 0 WNK3 65267 broad.mit.edu 37 X 54265396 54265396 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chrX:54265396G>A ENST00000354646.2 - 18 4226 c.3788C>T c.(3787-3789)cCt>cTt p.P1263L WNK3_ENST00000375159.2_Missense_Mutation_p.P1263L|WNK3_ENST00000375169.3_Intron NM_020922.4 NP_065973.2 Q9BYP7 WNK3_HUMAN WNK lysine deficient protein kinase 3 1247 intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation adherens junction|tight junction ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 80 CTTGCTAATAGGATTTTTGAG 0.463000 4 51 0 0 1 0 0 SFTPA1 653509 broad.mit.edu 37 10 81371747 81371747 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:81371747C>T ENST00000398636.3 + 3 304 c.166C>T c.(166-168)Cct>Tct p.P56S SFTPA1_ENST00000428376.2_Missense_Mutation_p.P56S|SFTPA1_ENST00000419470.2_Missense_Mutation_p.P71S|SFTPA1_ENST00000372313.5_Intron|SFTPA1_ENST00000372308.3_Missense_Mutation_p.P56S NM_001164644.1|NM_001164646.1|NM_005411.4 NP_001158116.1|NP_001158118.1|NP_005402.3 Q8IWL2 SFTA1_HUMAN surfactant protein A1 56 Collagen-like. cell junction assembly|respiratory gaseous exchange collagen|extracellular space lipid transporter activity|sugar binding endometrium(1)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 12 all_cancers(46;0.197)|Breast(12;0.000326)|Prostate(51;0.00985)|all_epithelial(25;0.0149) Epithelial(14;0.00957)|all cancers(16;0.0179)|Colorectal(32;0.229) AGACCCTGGCCCTCCAGGTAC 0.627000 36 77 0 0 1 0 0 EIF4B 1975 broad.mit.edu 37 12 53413721 53413721 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:53413721C>T ENST00000262056.9 + 4 714 c.388C>T c.(388-390)Ccc>Tcc p.P130S EIF4B_ENST00000416762.3_Intron|EIF4B_ENST00000420463.3_Missense_Mutation_p.P130S|RP11-983P16.4_ENST00000552905.1_RNA|EIF4B_ENST00000551527.1_3'UTR NM_001417.4 NP_001408.2 P23588 IF4B_HUMAN eukaryotic translation initiation factor 4B 130 RRM. insulin receptor signaling pathway|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation cytosol|eukaryotic translation initiation factor 4F complex nucleotide binding|translation initiation factor activity breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|stomach(1)|upper_aerodigestive_tract(1) 22 ACCACGTGAACCCAGCAATCC 0.418000 14 46 0 0 1 0 0 SCAND3 114821 broad.mit.edu 37 6 28543374 28543374 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:28543374C>T ENST00000452236.2 - 3 1725 c.1108G>A c.(1108-1110)Gaa>Aaa p.E370K NM_052923.1 NP_443155.1 Q6R2W3 SCND3_HUMAN SCAN domain containing 3 370 Integrase catalytic. DNA integration|viral reproduction nucleus DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3) 71 GAACTAACTTCCTTAATTGAT 0.343000 11 253 0 0 1 0 0 XDH 7498 broad.mit.edu 37 2 31610704 31610704 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:31610704C>T ENST00000379416.3 - 8 672 c.624G>A c.(622-624)caG>caA p.Q208Q XDH_ENST00000491727.1_5'UTR NM_000379.3 NP_000370.2 P47989 XDH_HUMAN xanthine dehydrogenase 208 purine nucleotide catabolic process|xanthine catabolic process cytosol|extracellular region|peroxisome 2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1) 74 Acute lymphoblastic leukemia(172;0.155) Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163) AAATGGGCTCCTGGGTTGGAT 0.522000 3 9 0 0 1 0 0 NHSL2 340527 broad.mit.edu 37 X 71359895 71359895 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chrX:71359895C>T ENST00000373677.1 + 2 2661 c.1399C>T c.(1399-1401)Ctg>Ttg p.L467L NHSL2_ENST00000540800.1_Silent_p.L833L|NHSL2_ENST00000510661.1_Silent_p.L602L|NHSL2_ENST00000535692.1_Silent_p.L467L F5H593 F5H593_HUMAN NHS-like 2 833 NS(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(10)|lung(7)|stomach(1) 28 Renal(35;0.156) TTCTGTTCGCCTGAGGTCGGT 0.512000 11 9 0 0 1 0 0 DCHS2 54798 broad.mit.edu 37 4 155312429 155312429 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:155312429C>T ENST00000357232.3 - 1 20 c.21G>A c.(19-21)acG>acA p.T7T DCHS2_ENST00000339452.1_Intron NM_017639.3 NP_060109.2 Q6V1P9 PCD23_HUMAN dachsous cadherin-related 2 7 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 176 all_hematologic(180;0.208) Renal(120;0.0854) LUSC - Lung squamous cell carcinoma(193;0.107) tctctgatttcgttatctcat 0.383000 8 17 0 0 1 0 0 C19orf48 84798 broad.mit.edu 37 19 51301460 51301460 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:51301460G>A ENST00000598463.1 - 5 1344 c.246C>T c.(244-246)tcC>tcT p.S82S C19orf48_ENST00000391812.1_Silent_p.S82S|C19orf48_ENST00000345523.4_Silent_p.S82S|C19orf48_ENST00000596655.1_Silent_p.S82S Q6RUI8 CS048_HUMAN chromosome 19 open reading frame 48 82 endometrium(1)|kidney(1)|lung(1)|ovary(1) 4 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.00531)|GBM - Glioblastoma multiforme(134;0.0145) GGTGGCGTATGGACAGCTCCT 0.642000 75 141 0 0 1 0 0 ERBB4 2066 broad.mit.edu 37 2 212288973 212288973 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:212288973G>A ENST00000342788.4 - 23 3083 c.2773C>T c.(2773-2775)Cca>Tca p.P925S ERBB4_ENST00000436443.1_Missense_Mutation_p.P925S|ERBB4_ENST00000402597.1_Missense_Mutation_p.P915S NM_005235.2 NP_005226.1 Q15303 ERBB4_HUMAN v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4 925 Protein kinase. cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway basolateral plasma membrane|cytoplasm|integral to membrane|nucleus ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 179 Renal(323;0.06)|Lung NSC(271;0.197) UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266) TCTCGCGTTGGAATTCCATCA 0.383000 TSP Lung(8;0.080) 25 55 0 0 1 0 0 EED 8726 broad.mit.edu 37 11 85989020 85989020 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:85989020C>T ENST00000263360.6 + 11 1872 c.1186C>T c.(1186-1188)Cct>Tct p.P396S EED_ENST00000327320.4_Missense_Mutation_p.P396S|EED_ENST00000528180.1_Missense_Mutation_p.P316S|EED_ENST00000351625.6_Missense_Mutation_p.P421S|EED_ENST00000527888.1_Missense_Mutation_p.P61S NM_003797.3 NP_003788.2 O75530 EED_HUMAN embryonic ectoderm development 396 Interaction with EZH2 (By similarity).|Required for interaction with the matrix protein MA of HIV-1. negative regulation of transcription, DNA-dependent|transcription, DNA-dependent ESC/E(Z) complex histone methyltransferase activity|identical protein binding haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1) 21 Acute lymphoblastic leukemia(157;7.24e-07)|all_hematologic(158;0.00092) AGTAGAAGATCCTCATAAAGC 0.299000 47 133 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9086766 9086766 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:9086766G>A ENST00000397910.4 - 1 5252 c.5049C>T c.(5047-5049)ctC>ctT p.L1683L NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 1683 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 TAGTAACAAGGAGTCCCATTG 0.473000 48 99 0 0 1 0 0 EP400 57634 broad.mit.edu 37 12 132498130 132498130 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:132498130C>T ENST00000333577.4 + 19 3924 c.3815C>T c.(3814-3816)cCc>cTc p.P1272L EP400_ENST00000389562.2_Missense_Mutation_p.P1235L|EP400_ENST00000389561.2_Missense_Mutation_p.P1236L|EP400_ENST00000330386.6_Missense_Mutation_p.P1236L|EP400_ENST00000332482.4_Missense_Mutation_p.P1199L Q96L91 EP400_HUMAN E1A binding protein p400 1272 Interactions with RUVBL1 and RUVBL2. histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 161 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.198) OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06) ATCTCCAGGCCCTACCTGAGC 0.557000 27 55 0 0 1 0 0 IL2RB 3560 broad.mit.edu 37 22 37535157 37535157 + Splice_Site SNP G G A rs146185118 byFrequency TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr22:37535157G>A ENST00000216223.5 - 5 586 c.388_splice c.e5+1 p.L130_splice NM_000878.3 NP_000869.1 P14784 IL2RB_HUMAN interleukin 2 receptor, beta 130 interspecies interaction between organisms|positive regulation of survival gene product expression|protein complex assembly external side of plasma membrane|integral to plasma membrane interleukin-2 receptor activity breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(5) 23 Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004) CCTCACTCACGGTTCTCAAAG 0.627000 13 44 0 0 1 0 0 LRIT2 340745 broad.mit.edu 37 10 85981767 85981767 + Missense_Mutation SNP A A C TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:85981767A>C ENST00000372113.4 - 3 1567 c.1562T>G c.(1561-1563)tTt>tGt p.F521C LRIT2_ENST00000538192.1_Missense_Mutation_p.F531C NM_001017924.2 NP_001017924.1 A6NDA9 LRIT2_HUMAN leucine-rich repeat, immunoglobulin-like and transmembrane domains 2 521 integral to membrane central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|prostate(6)|urinary_tract(1) 32 ATGTTCTCTAAAGGAGCCATC 0.597000 69 144 0 0 1 0 0 HCN1 348980 broad.mit.edu 37 5 45262291 45262291 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:45262291G>A ENST00000303230.4 - 8 2462 c.2405C>T c.(2404-2406)tCc>tTc p.S802F NM_021072.3 NP_066550.2 O60741 HCN1_HUMAN hyperpolarization activated cyclic nucleotide-gated potassium channel 1 802 integral to membrane cAMP binding|sodium channel activity|voltage-gated potassium channel activity NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5) 156 ATGAGGTCTGGAAATCAGAGT 0.657000 30 87 0 0 1 0 0 ZNF721 170960 broad.mit.edu 37 4 435917 435917 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:435917G>A ENST00000338977.5 - 2 2351 c.2303C>T c.(2302-2304)cCc>cTc p.P768L ZNF721_ENST00000506646.1_Intron|ZNF721_ENST00000511833.2_Missense_Mutation_p.P780L|ZNF721_ENST00000507078.1_Intron|ABCA11P_ENST00000451020.2_RNA zinc finger protein 721 endometrium(2)|kidney(2)|large_intestine(15)|lung(6)|ovary(1)|skin(1)|stomach(5)|urinary_tract(1) 33 ACATTTGTAGGGTTTCTTTCC 0.358000 14 29 0 0 1 0 0 C3orf56 285311 broad.mit.edu 37 3 126915867 126915867 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:126915867C>T ENST00000398112.1 + 2 579 c.339C>T c.(337-339)ccC>ccT p.P113P NM_001007534.2 NP_001007535.1 chromosome 3 open reading frame 56 breast(1)|endometrium(2)|kidney(1)|lung(5) 9 GBM - Glioblastoma multiforme(114;0.142) GCTTTGACCCCCTCATAGGAA 0.582000 84 200 0 0 1 0 0 FMN2 56776 broad.mit.edu 37 1 240255461 240255461 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:240255461G>A ENST00000319653.9 + 1 282 c.52G>A c.(52-54)Gaa>Aaa p.E18K NM_020066.4 NP_064450.3 Q9NZ56 FMN2_HUMAN formin 2 18 actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions actin binding NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2) 178 Ovarian(103;0.127) all_cancers(173;0.013) OV - Ovarian serous cystadenocarcinoma(106;0.0106) TGCTTTGCACGAAGGCGGCGG 0.682000 7 10 0 0 1 0 0 KIAA0907 22889 broad.mit.edu 37 1 155885707 155885707 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:155885707C>T ENST00000368320.3 - 13 1627 c.1602G>A c.(1600-1602)gaG>gaA p.E534E KIAA0907_ENST00000368321.3_Silent_p.E534E Q7Z7F0 K0907_HUMAN KIAA0907 534 breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1) 21 Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195) OV - Ovarian serous cystadenocarcinoma(3;8.82e-06) TTTCATCGGACTCTGTTTTTA 0.428000 130 423 0 0 1 0 0 ATP2B3 492 broad.mit.edu 37 X 152807906 152807906 + Splice_Site SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chrX:152807906G>A ENST00000370186.1 + 5 1116 c.790_splice c.e5+1 p.G264_splice ATP2B3_ENST00000370181.2_Splice_Site_p.G264_splice|ATP2B3_ENST00000263519.4_Splice_Site_p.G264_splice|ATP2B3_ENST00000349466.2_Splice_Site_p.G264_splice|ATP2B3_ENST00000393842.1_Splice_Site_p.G264_splice|ATP2B3_ENST00000359149.3_Splice_Site_p.G264_splice Q16720 AT2B3_HUMAN ATPase, Ca++ transporting, plasma membrane 3 264 ATP biosynthetic process|platelet activation integral to membrane|plasma membrane ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3) 50 all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) GCTGCTCTCAGGTGAGGGCCA 0.652000 25 21 0 0 1 0 0 DCAF17 80067 broad.mit.edu 37 2 172330436 172330436 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:172330436C>T ENST00000375255.3 + 10 1369 c.1042C>T c.(1042-1044)Cat>Tat p.H348Y DCAF17_ENST00000539783.1_Intron|DCAF17_ENST00000468592.1_3'UTR NM_025000.3 NP_079276.2 Q5H9S7 DCA17_HUMAN DDB1 and CUL4 associated factor 17 348 CUL4 RING ubiquitin ligase complex|integral to membrane|nucleolus endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|prostate(1) 17 GATCTATTTCCATCCTGATGC 0.358000 4 57 0 0 1 0 0 CIDEA 1149 broad.mit.edu 37 18 12277230 12277230 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr18:12277230C>T ENST00000320477.9 + 5 686 c.621C>T c.(619-621)tcC>tcT p.S207S CIDEA_ENST00000521296.1_3'UTR NM_001279.3 NP_001270.1 O60543 CIDEA_HUMAN cell death-inducing DFFA-like effector a 207 DNA damage response, signal transduction resulting in induction of apoptosis|DNA fragmentation involved in apoptotic nuclear change|lipid metabolic process|lipid storage|negative regulation of apoptosis|negative regulation of cytokine secretion|negative regulation of lipid catabolic process|negative regulation of transforming growth factor beta receptor signaling pathway|negative regulation of tumor necrosis factor production|positive regulation of sequestering of triglyceride|temperature homeostasis mitochondrial envelope|nucleus protein homodimerization activity central_nervous_system(1)|endometrium(1)|kidney(1)|lung(6)|ovary(1)|pancreas(1)|prostate(2) 13 AGCGGCCATCCCTCCGGTCAC 0.572000 26 63 0 0 1 0 0 ESM1 11082 broad.mit.edu 37 5 54275214 54275214 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:54275214C>T ENST00000381405.4 - 3 646 c.501G>A c.(499-501)gtG>gtA p.V167V ESM1_ENST00000598310.1_5'UTR|ESM1_ENST00000381403.4_Silent_p.V117V NM_007036.4 NP_008967.1 Q9NQ30 ESM1_HUMAN endothelial cell-specific molecule 1 167 angiogenesis|regulation of cell growth extracellular region growth factor activity|insulin-like growth factor binding breast(1)|kidney(1)|large_intestine(4)|lung(4) 10 Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.116) Lung(15;0.23) CATTCTCTTTCACAACTTCTT 0.438000 49 99 0 0 1 0 0 RHCE 6006 broad.mit.edu 37 1 25712297 25712297 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:25712297G>A ENST00000349320.3 - 9 1318 c.930C>T c.(928-930)tcC>tcT p.S310S RHCE_ENST00000243186.6_Silent_p.S326S|RHCE_ENST00000455194.1_Silent_p.S221S|RHCE_ENST00000425135.1_Intron|RHCE_ENST00000340849.4_Silent_p.S221S|RHCE_ENST00000413854.1_Silent_p.S326S|RHCE_ENST00000346452.4_Silent_p.S175S|RHCE_ENST00000374352.2_Silent_p.S310S|RHCE_ENST00000349438.4_Intron|RHCE_ENST00000294413.7_Silent_p.S326S P18577 RHCE_HUMAN Rh blood group, CcEe antigens 326 integral to plasma membrane endometrium(8)|large_intestine(6)|lung(3) 17 Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936) UCEC - Uterine corpus endometrioid carcinoma (279;0.0426)|OV - Ovarian serous cystadenocarcinoma(117;2.12e-27)|Colorectal(126;3.16e-08)|COAD - Colon adenocarcinoma(152;1.72e-06)|STAD - Stomach adenocarcinoma(196;0.00035)|KIRC - Kidney renal clear cell carcinoma(1967;0.000769)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|GBM - Glioblastoma multiforme(114;0.00458)|READ - Rectum adenocarcinoma(331;0.0649) AGTGCATGACGGAGATGTGGT 0.517000 62 130 0 0 1 0 0 NCKAP1L 3071 broad.mit.edu 37 12 54902250 54902250 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:54902250G>A ENST00000293373.6 + 5 520 c.441G>A c.(439-441)cgG>cgA p.R147R NCKAP1L_ENST00000545638.2_Silent_p.R97R NM_005337.4 NP_005328.2 P55160 NCKPL_HUMAN NCK-associated protein 1-like 147 actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis cytosol|integral to plasma membrane|membrane fraction|SCAR complex protein complex binding|protein kinase activator activity|Rac GTPase activator activity NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2) 80 TTCTGTCACGGATTGAAGATC 0.423000 93 213 0 0 1 0 0 SPOCD1 90853 broad.mit.edu 37 1 32280373 32280373 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:32280373C>T ENST00000360482.2 - 2 691 c.562G>A c.(562-564)Gag>Aag p.E188K SPOCD1_ENST00000533231.1_Missense_Mutation_p.E188K|SPOCD1_ENST00000257100.3_Intron|SPOCD1_ENST00000373648.2_Missense_Mutation_p.E188K NM_144569.4 NP_653170.3 Q6ZMY3 SPOC1_HUMAN SPOC domain containing 1 188 transcription, DNA-dependent NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(1)|lung(7)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2) 37 Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199) STAD - Stomach adenocarcinoma(196;0.18) CCAGGGGGCTCCTCTTTGCTG 0.592000 69 128 0 0 1 0 0 MYOM2 9172 broad.mit.edu 37 8 2044109 2044109 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:2044109G>A ENST00000262113.4 + 18 2289 c.2148G>A c.(2146-2148)ggG>ggA p.G716G MYOM2_ENST00000523438.1_Silent_p.G141G NM_003970.2 NP_003961.2 P54296 MYOM2_HUMAN myomesin 2 716 Fibronectin type-III 4. muscle contraction myosin filament structural constituent of muscle autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3) 104 Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217) BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179) ATCCTTATGGGATTACGCTCC 0.617000 95 146 0 0 1 0 0 SPHKAP 80309 broad.mit.edu 37 2 228846481 228846481 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:228846481C>T ENST00000392056.3 - 12 5101 c.5055G>A c.(5053-5055)caG>caA p.Q1685Q SPHKAP_ENST00000344657.5_Silent_p.Q1656Q NM_001142644.1 NP_001136116.1 Q2M3C7 SPKAP_HUMAN SPHK1 interactor, AKAP domain containing 1685 cytoplasm protein binding NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 185 Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23) Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232) TCCCATCCTTCTGCTCCTCAT 0.448000 44 67 0 0 1 0 0 CSMD1 64478 broad.mit.edu 37 8 3267101 3267101 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:3267101G>A ENST00000602557.1 - 14 2146 c.1591C>T c.(1591-1593)Cct>Tct p.P531S CSMD1_ENST00000602723.1_Missense_Mutation_p.P531S|CSMD1_ENST00000537824.1_Missense_Mutation_p.P530S|CSMD1_ENST00000400186.3_Missense_Mutation_p.P531S|CSMD1_ENST00000539096.1_Missense_Mutation_p.P530S|CSMD1_ENST00000542608.1_Missense_Mutation_p.P530S|CSMD1_ENST00000520002.1_Missense_Mutation_p.P531S Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 531 Sushi 3. integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) GGGATTCCAGGATCCCCACAC 0.473000 12 16 0 0 1 0 0 OR52E6 390078 broad.mit.edu 37 11 5862720 5862720 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:5862720C>T ENST00000329322.5 - 1 407 c.408G>A c.(406-408)atG>atA p.M136I OR52E6_ENST00000379946.2_Missense_Mutation_p.M140I|TRIM5_ENST00000380027.1_Intron NM_001005167.1 NP_001005167.1 Q96RD3 O52E6_HUMAN olfactory receptor, family 52, subfamily E, member 6 136 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 27 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;2.55e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) TGGTGAGGATCATGGTGTACC 0.478000 85 92 0 0 1 0 0 TRBV2 28620 broad.mit.edu 37 7 142000981 142000981 + RNA SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:142000981C>T ENST00000455382.2 + 0 147 TGAAGTCACCCAGACTCCCAG 0.418000 13 37 0 0 1 0 0 TENM4 26011 broad.mit.edu 37 11 78383207 78383207 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:78383207G>A ENST00000278550.7 - 31 6126 c.5664C>T c.(5662-5664)tcC>tcT p.S1888S NM_001098816.2 NP_001092286.2 teneurin transmembrane protein 4 AACCCCCAGGGGAGTATGTCA 0.587000 20 47 0 0 1 0 0 C7 730 broad.mit.edu 37 5 40959706 40959706 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:40959706G>A ENST00000313164.9 + 12 2004 c.1645G>A c.(1645-1647)Gag>Aag p.E549K NM_000587.2 NP_000578.2 P10643 CO7_HUMAN complement component 7 549 TSP type-1 2. complement activation, alternative pathway|complement activation, classical pathway|cytolysis extracellular region|membrane attack complex Ovarian(839;0.0112) CGAAGATGAGGAGCTGGAGCA 0.522000 9 24 0 0 1 0 0 BAI2 576 broad.mit.edu 37 1 32205608 32205608 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:32205608G>A ENST00000373658.3 - 14 2427 c.2086C>T c.(2086-2088)Cgt>Tgt p.R696C BAI2_ENST00000257070.4_Missense_Mutation_p.R696C|BAI2_ENST00000527361.1_Missense_Mutation_p.R696C|BAI2_ENST00000398542.1_Missense_Mutation_p.R629C|BAI2_ENST00000440175.2_Missense_Mutation_p.R338C|BAI2_ENST00000398556.3_Missense_Mutation_p.R644C|BAI2_ENST00000398547.1_Missense_Mutation_p.R629C|BAI2_ENST00000373655.2_Missense_Mutation_p.R696C|BAI2_ENST00000398538.1_Missense_Mutation_p.R684C NM_001703.2 NP_001694.2 O60241 BAI2_HUMAN brain-specific angiogenesis inhibitor 2 696 negative regulation of angiogenesis|neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 55 Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174) STAD - Stomach adenocarcinoma(196;0.0557) TCCACGACACGGAGCAGGTGC 0.587000 21 41 0 0 1 0 0 ADAMTSL1 92949 broad.mit.edu 37 9 18639267 18639267 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:18639267C>T ENST00000380548.4 + 7 1031 c.692C>T c.(691-693)aCc>aTc p.T231I ADAMTSL1_ENST00000276935.6_Missense_Mutation_p.T231I|ADAMTSL1_ENST00000327883.7_Missense_Mutation_p.T231I|ADAMTSL1_ENST00000380566.4_Missense_Mutation_p.T231I NM_001040272.5 NP_001035362.3 Q8N6G6 ATL1_HUMAN ADAMTS-like 1 231 proteinaceous extracellular matrix metallopeptidase activity|zinc ion binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 42 GBM - Glioblastoma multiforme(50;1.29e-17) GAAACCAAAACCCTCCAGGGG 0.428000 17 17 0 0 1 0 0 FBN3 84467 broad.mit.edu 37 19 8137963 8137963 + Missense_Mutation SNP A A C TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:8137963A>C ENST00000600128.1 - 62 8335 c.7921T>G c.(7921-7923)Ttc>Gtc p.F2641V FBN3_ENST00000601739.1_Missense_Mutation_p.F2641V|FBN3_ENST00000270509.2_Missense_Mutation_p.F2641V Q75N90 FBN3_HUMAN fibrillin 3 2641 EGF-like 44; calcium-binding. proteinaceous extracellular matrix calcium ion binding|extracellular matrix structural constituent NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 132 CCAGCCCGGAAGTAGCCTTGA 0.647000 35 141 0 0 1 0 0 GLYATL1 92292 broad.mit.edu 37 11 58722310 58722310 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:58722310C>T ENST00000300079.5 + 5 397 c.347C>T c.(346-348)tCa>tTa p.S116L RP11-142C4.6_ENST00000533954.1_RNA|GLYATL1_ENST00000317391.4_Missense_Mutation_p.S85L NM_001220496.1|NM_080661.3 NP_001207425.1|NP_542392.2 Q969I3 GLYL1_HUMAN glycine-N-acyltransferase-like 1 85 mitochondrion glycine N-acyltransferase activity NS(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|skin(4)|urinary_tract(1) 34 Glycine(DB00145) CCTCAAAAATCAGAAGAAGTT 0.398000 25 57 0 0 1 0 0 ATAD3C 219293 broad.mit.edu 37 1 1396230 1396230 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:1396230G>A ENST00000378785.2 + 10 1908 c.913G>A c.(913-915)Gag>Aag p.E305K NM_001039211.2 NP_001034300.2 Q5T2N8 ATD3C_HUMAN ATPase family, AAA domain containing 3C 305 ATP binding|nucleoside-triphosphatase activity autonomic_ganglia(1)|endometrium(1)|kidney(1)|lung(4) 7 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217) Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145) AGGGCAGGAGGAGCGGGCGCG 0.607000 26 47 0 0 1 0 0 UGT1A5 54579 broad.mit.edu 37 2 234622415 234622415 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:234622415G>A ENST00000373414.3 + 1 778 c.778G>A c.(778-780)Gac>Aac p.D260N UGT1A6_ENST00000480628.1_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A8_ENST00000373450.4_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A6_ENST00000305139.6_Intron NM_019078.1 NP_061951.1 cervix(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|urinary_tract(1) 22 Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128) Epithelial(121;4.51e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000523)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.00645) GTTCCGAGGGGACTTTGTGAT 0.522000 101 210 0 0 1 0 0 NLRP2 55655 broad.mit.edu 37 19 55497631 55497631 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:55497631C>T ENST00000543010.1 + 8 2457 c.2314C>T c.(2314-2316)Ccc>Tcc p.P772S NLRP2_ENST00000263437.6_Missense_Mutation_p.P769S|NLRP2_ENST00000427260.2_Missense_Mutation_p.P749S|NLRP2_ENST00000537859.1_Missense_Mutation_p.P750S|NLRP2_ENST00000339757.7_Missense_Mutation_p.P750S|NLRP2_ENST00000538819.1_Missense_Mutation_p.P748S|NLRP2_ENST00000391721.4_Missense_Mutation_p.P748S|NLRP2_ENST00000448584.2_Missense_Mutation_p.P772S NM_001174081.1 NP_001167552.1 Q9NX02 NALP2_HUMAN NLR family, pyrin domain containing 2 772 apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion cytoplasm ATP binding|Pyrin domain binding large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3) 11 BRCA - Breast invasive adenocarcinoma(297;0.163) GBM - Glioblastoma multiforme(193;0.028) TGATATGTTTCCCGCATTGTG 0.443000 28 81 0 0 1 0 0 FAM149A 25854 broad.mit.edu 37 4 187073146 187073146 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:187073146C>T ENST00000356371.5 + 4 906 c.906C>T c.(904-906)acC>acT p.T302T FAM149A_ENST00000514153.1_Silent_p.T11T|FAM149A_ENST00000502970.1_Silent_p.T11T|FAM149A_ENST00000503432.1_Silent_p.T11T|FAM149A_ENST00000227065.4_Silent_p.T11T|FAM149A_ENST00000389354.5_Silent_p.T11T|FAM149A_ENST00000514829.1_3'UTR A5PLN7 F149A_HUMAN family with sequence similarity 149, member A 302 breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(8)|pancreas(1)|prostate(1)|skin(2) 25 all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243) OV - Ovarian serous cystadenocarcinoma(60;1.19e-10)|BRCA - Breast invasive adenocarcinoma(30;1.22e-05)|GBM - Glioblastoma multiforme(59;0.000122)|STAD - Stomach adenocarcinoma(60;0.000288)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.166) ACCCTCAGACCCAGAGTCTGC 0.517000 17 73 0 0 1 0 0 ARHGEF1 9138 broad.mit.edu 37 19 42392168 42392168 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:42392168C>T ENST00000599846.1 + 2 140 c.15C>T c.(13-15)gcC>gcT p.A5A ARHGEF1_ENST00000337665.4_Silent_p.A20A|ARHGEF1_ENST00000354532.3_Silent_p.A5A|ARHGEF1_ENST00000596957.1_Intron|ARHGEF1_ENST00000378152.4_Silent_p.A20A|ARHGEF1_ENST00000347545.4_Silent_p.A5A Q92888 ARHG1_HUMAN Rho guanine nucleotide exchange factor (GEF) 1 5 cell proliferation|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis|regulation of Rho protein signal transduction|Rho protein signal transduction cytosol|plasma membrane GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity breast(2)|endometrium(8)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 Renal(1328;0.000518)|Hepatocellular(1079;0.0046)|Medulloblastoma(540;0.0425) Epithelial(262;5.89e-46)|GBM - Glioblastoma multiforme(1328;2.49e-12)|STAD - Stomach adenocarcinoma(1328;0.00644) AAGACTTCGCCCGAGGGGCGG 0.652000 32 42 0 0 1 0 0 KCNG4 93107 broad.mit.edu 37 16 84256380 84256380 + Missense_Mutation SNP C C T rs142789456 TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr16:84256380C>T ENST00000308251.4 - 3 1071 c.1003G>A c.(1003-1005)Gtc>Atc p.V335I NM_172347.2 NP_758857.1 Q8TDN1 KCNG4_HUMAN potassium voltage-gated channel, subfamily G, member 4 335 voltage-gated potassium channel complex voltage-gated potassium channel activity breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(3) 31 ACACGCAGGACCAGCCCCACC 0.697000 3 15 0 0 1 0 0 XKR4 114786 broad.mit.edu 37 8 56436532 56436532 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:56436532G>A ENST00000327381.5 + 3 1799 c.1699G>A c.(1699-1701)Gat>Aat p.D567N NM_052898.1 NP_443130.1 Q5GH76 XKR4_HUMAN XK, Kell blood group complex subunit-related family, member 4 567 integral to membrane NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 34 Epithelial(17;0.000117)|all cancers(17;0.000836) CGCAGAGCGGGATGGGTGTGT 0.542000 47 63 0 0 1 0 0 ZCCHC10 54819 broad.mit.edu 37 5 132334420 132334420 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:132334420G>A ENST00000324170.3 - 4 434 c.368C>T c.(367-369)tCc>tTc p.S123F ZCCHC10_ENST00000509437.1_Missense_Mutation_p.S145F|ZCCHC10_ENST00000508080.1_5'UTR|ZCCHC10_ENST00000355372.2_Missense_Mutation_p.S139F|ZCCHC10_ENST00000509008.1_3'UTR|ZCCHC10_ENST00000513541.1_3'UTR|ZCCHC10_ENST00000513848.1_Missense_Mutation_p.S109F NM_017665.1 NP_060135.1 Q8TBK6 ZCH10_HUMAN zinc finger, CCHC domain containing 10 145 Ser-rich. nucleic acid binding|zinc ion binding skin(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) ggaactagaggagCTTTCATC 0.493000 14 34 0 0 1 0 0 DOCK2 1794 broad.mit.edu 37 5 169108789 169108789 + Missense_Mutation SNP A A T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:169108789A>T ENST00000256935.8 + 7 592 c.512A>T c.(511-513)aAt>aTt p.N171I NM_004946.2 NP_004937.1 Q92608 DOCK2_HUMAN dedicator of cytokinesis 2 171 actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction cytoskeleton|cytosol|endomembrane system|membrane electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3) 160 Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) GAAGACGGAAATATCTTGGAC 0.418000 50 117 0 0 1 0 0 ING2 3622 broad.mit.edu 37 4 184431719 184431719 + Missense_Mutation SNP C C G TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:184431719C>G ENST00000302327.3 + 2 659 c.457C>G c.(457-459)Cgc>Ggc p.R153G ING2_ENST00000434682.2_Missense_Mutation_p.R113G NM_001564.2 NP_001555.1 Q9H160 ING2_HUMAN inhibitor of growth family, member 2 153 chromatin modification|positive regulation of transcription, DNA-dependent|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of growth|signal transduction|transcription, DNA-dependent CCAAT-binding factor complex|Sin3 complex chromatin binding|DNA binding|protein complex binding|zinc ion binding breast(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1) 7 all_lung(41;5.16e-14)|Lung NSC(41;1.33e-13)|Colorectal(36;0.00139)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|all_hematologic(60;0.0207)|Prostate(90;0.0235)|all_neural(102;0.202) all cancers(43;1.15e-26)|Epithelial(43;2.98e-22)|OV - Ovarian serous cystadenocarcinoma(60;7.64e-10)|GBM - Glioblastoma multiforme(59;4.22e-06)|Colorectal(24;5.87e-06)|STAD - Stomach adenocarcinoma(60;2.09e-05)|COAD - Colon adenocarcinoma(29;5.15e-05)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155) AAGAAGACCCCGCAGGCAGCG 0.463000 30 40 0 0 1 0 0 RAB27B 5874 broad.mit.edu 37 18 52556612 52556612 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr18:52556612G>A ENST00000262094.5 + 6 1146 c.625G>A c.(625-627)Gaa>Aaa p.E209K RP11-839G9.1_ENST00000588466.1_RNA NM_004163.4 NP_004154.2 O00194 RB27B_HUMAN RAB27B, member RAS oncogene family 209 protein transport|small GTPase mediated signal transduction Golgi apparatus|plasma membrane GTP binding|GTPase activity p.E209*(1) large_intestine(3)|lung(3)|skin(1) 7 Colorectal(16;0.0273)|READ - Rectum adenocarcinoma(59;0.219) CTTGGATGGGGAAAAGCCACC 0.393000 4 80 0 0 1 0 0 NPAS2 4862 broad.mit.edu 37 2 101611898 101611898 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:101611898G>A ENST00000335681.5 + 21 2614 c.2329G>A c.(2329-2331)Gac>Aac p.D777N NPAS2_ENST00000542504.1_Missense_Mutation_p.D842N|AC016738.4_ENST00000452364.1_RNA NM_002518.3 NP_002509.2 Q99743 NPAS2_HUMAN neuronal PAS domain protein 2 777 central nervous system development|positive regulation of transcription from RNA polymerase II promoter|rhythmic process transcription factor complex DNA binding|Hsp90 protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity cervix(1)|endometrium(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 TGAGCAGCAGGACTCGCTACT 0.567000 46 102 0 0 1 0 0 HYDIN 54768 broad.mit.edu 37 16 71212846 71212846 + Missense_Mutation SNP C C G TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr16:71212846C>G ENST00000393567.2 - 4 516 c.366G>C c.(364-366)ttG>ttC p.L122F HYDIN_ENST00000393550.2_Missense_Mutation_p.L122F|HYDIN_ENST00000538248.1_Missense_Mutation_p.L149F|HYDIN_ENST00000321489.5_Missense_Mutation_p.L122F|HYDIN_ENST00000448691.1_Missense_Mutation_p.L122F|HYDIN_ENST00000448089.2_Missense_Mutation_p.L122F|HYDIN_ENST00000288168.10_Missense_Mutation_p.L139F|HYDIN_ENST00000541601.1_Missense_Mutation_p.L139F NM_001270974.1 NP_001257903.1 Q4G0P3 HYDIN_HUMAN HYDIN, axonemal central pair apparatus protein 122 breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 43 Ovarian(137;0.0654) CATTGTTCCTCAAAATCAGTG 0.403000 4 114 0 0 1 0 0 OR4D10 390197 broad.mit.edu 37 11 59245422 59245422 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:59245422C>T ENST00000530162.1 + 1 577 c.520C>T c.(520-522)Ctt>Ttt p.L174F NM_001004705.1 NP_001004705.1 Q8NGI6 OR4DA_HUMAN olfactory receptor, family 4, subfamily D, member 10 174 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 ACCCAATGTTCTTGACACTTT 0.502000 73 110 0 0 1 0 0 HABP2 3026 broad.mit.edu 37 10 115338471 115338471 + Nonsense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:115338471G>A ENST00000351270.3 + 7 750 c.654G>A c.(652-654)tgG>tgA p.W218* HABP2_ENST00000541666.1_Nonsense_Mutation_p.W218*|HABP2_ENST00000542051.1_Nonsense_Mutation_p.W192*|HABP2_ENST00000537906.1_3'UTR NM_004132.3 NP_004123.1 Q14520 HABP2_HUMAN hyaluronan binding protein 2 218 Kringle. cell adhesion|proteolysis extracellular space glycosaminoglycan binding|serine-type endopeptidase activity breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|skin(2)|upper_aerodigestive_tract(2) 23 Colorectal(252;0.0233)|Breast(234;0.0672) Epithelial(162;0.00319)|all cancers(201;0.0112) GCCTTTACTGGAACTCCCACC 0.478000 5 131 0 0 1 0 0 DYNC1I2 1781 broad.mit.edu 37 2 172563838 172563838 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:172563838C>T ENST00000534253.2 + 5 454 c.286C>T c.(286-288)Cca>Tca p.P96S DYNC1I2_ENST00000409453.1_Missense_Mutation_p.P96S|DYNC1I2_ENST00000410079.3_Missense_Mutation_p.P108S|DYNC1I2_ENST00000397119.3_Missense_Mutation_p.P96S|DYNC1I2_ENST00000340296.4_Missense_Mutation_p.P90S|DYNC1I2_ENST00000409197.1_Missense_Mutation_p.P90S|DYNC1I2_ENST00000358002.6_Missense_Mutation_p.P108S|DYNC1I2_ENST00000263811.4_Missense_Mutation_p.P90S|DYNC1I2_ENST00000409317.1_Missense_Mutation_p.P90S|AC068039.1_ENST00000598148.1_Intron|DYNC1I2_ENST00000508530.1_Missense_Mutation_p.P90S|DYNC1I2_ENST00000409773.1_Missense_Mutation_p.P96S Q13409 DC1I2_HUMAN dynein, cytoplasmic 1, intermediate chain 2 96 G2/M transition of mitotic cell cycle|interspecies interaction between organisms|microtubule-based movement|transport centrosome|cytosol|dynein complex|microtubule|vesicle microtubule motor activity breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(2)|ovary(1) 15 OV - Ovarian serous cystadenocarcinoma(117;0.198) TGTGAGCACTCCAAGTGAAGC 0.453000 11 103 0 0 1 0 0 PCDH17 27253 broad.mit.edu 37 13 58298958 58298958 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr13:58298958G>A ENST00000377918.3 + 4 3036 c.3010G>A c.(3010-3012)Gac>Aac p.D1004N NM_001040429.2 NP_001035519.1 O14917 PCD17_HUMAN protocadherin 17 1004 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding|protein binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 120 Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132) GBM - Glioblastoma multiforme(99;1.06e-05) ATTTGGAAAAGACAAGCGAGA 0.433000 32 69 0 0 1 0 0 EIF4G1 1981 broad.mit.edu 37 3 184041590 184041590 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:184041590C>T ENST00000342981.4 + 15 2714 c.2300C>T c.(2299-2301)tCc>tTc p.S767F EIF4G1_ENST00000352767.3_Missense_Mutation_p.S773F|EIF4G1_ENST00000350481.5_Missense_Mutation_p.S602F|EIF4G1_ENST00000427845.1_Missense_Mutation_p.S680F|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000392537.2_Missense_Mutation_p.S679F|EIF4G1_ENST00000434061.2_Missense_Mutation_p.S571F|EIF4G1_ENST00000435046.2_Missense_Mutation_p.S570F|EIF4G1_ENST00000441154.1_Missense_Mutation_p.S603F|EIF4G1_ENST00000346169.2_Missense_Mutation_p.S766F|EIF4G1_ENST00000414031.1_Missense_Mutation_p.S726F|EIF4G1_ENST00000411531.1_Missense_Mutation_p.S727F|EIF4G1_ENST00000319274.6_Missense_Mutation_p.S766F|EIF4G1_ENST00000382330.3_Missense_Mutation_p.S773F|EIF4G1_ENST00000424196.1_Missense_Mutation_p.S773F NM_182917.4 NP_886553.3 Q04637 IF4G1_HUMAN eukaryotic translation initiation factor 4 gamma, 1 766 MIF4G.|eIF3/EIF4A-binding. insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation cytosol|eukaryotic translation initiation factor 4F complex protein binding|translation initiation factor activity central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 75 all_cancers(143;1.06e-10)|Ovarian(172;0.0339) Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) AGGGTGCGCTCCATCCTGAAT 0.572000 49 72 0 0 1 0 0 SRGAP3 9901 broad.mit.edu 37 3 9032286 9032286 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:9032286G>A ENST00000383836.3 - 21 3223 c.2796C>T c.(2794-2796)tcC>tcT p.S932S SRGAP3_ENST00000360413.3_Silent_p.S908S NM_014850.3 NP_055665.1 O43295 SRGP2_HUMAN SLIT-ROBO Rho GTPase activating protein 3 932 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|protein binding SRGAP3/RAF1(6) breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 54 OV - Ovarian serous cystadenocarcinoma(96;0.0563) AGTGCCCTTCGGAGAGCGCCT 0.652000 T RAF1 pilocytic astrocytoma 6 17 0 0 1 0 0 OR4A47 403253 broad.mit.edu 37 11 48511096 48511096 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:48511096C>T ENST00000446524.1 + 1 828 c.752C>T c.(751-753)cCt>cTt p.P251L NM_001005512.2 NP_001005512.2 Q6IF82 O4A47_HUMAN olfactory receptor, family 4, subfamily A, member 47 251 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(18)|ovary(1)|skin(1)|urinary_tract(2) 29 TTCTTTGTTCCTTGTATTTTT 0.428000 26 254 0 0 1 0 0 BAGE2 85319 broad.mit.edu 37 21 11039189 11039189 + RNA SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr21:11039189G>A ENST00000470054.1 - 0 1014 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) AAGAGTGACAGATTCAATGAC 0.428000 27 477 0 0 1 0 0 KRT36 8689 broad.mit.edu 37 17 39642819 39642819 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:39642819G>A ENST00000393986.2 - 8 1275 c.1063C>T c.(1063-1065)Cct>Tct p.P355S KRT36_ENST00000328119.6_Missense_Mutation_p.P405S O76013 KRT36_HUMAN keratin 36 405 Coil 2.|Rod. intermediate filament protein binding|structural constituent of epidermis breast(2)|cervix(1)|kidney(2)|large_intestine(3)|lung(8)|skin(1) 17 Breast(137;0.000286) GGTTGGGGAGGAAGCCTGAGG 0.577000 8 13 0 0 1 0 0 HCLS1 3059 broad.mit.edu 37 3 121361780 121361780 + Nonsense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:121361780G>A ENST00000314583.3 - 6 539 c.448C>T c.(448-450)Cag>Tag p.Q150* HCLS1_ENST00000473883.1_5'UTR|HCLS1_ENST00000428394.2_Nonsense_Mutation_p.Q150* NM_005335.4 NP_005326.2 P14317 HCLS1_HUMAN hematopoietic cell-specific Lyn substrate 1 150 erythrocyte differentiation|intracellular signal transduction|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of STAT protein|response to hormone stimulus mitochondrion|nucleus|plasma membrane DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 35 GBM - Glioblastoma multiforme(114;0.0912) TTGCCTTTCTGAGATGTGTGC 0.458000 50 104 0 0 1 0 0 C19orf47 126526 broad.mit.edu 37 19 40827876 40827876 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:40827876C>T ENST00000582783.1 - 9 1194 c.1182G>A c.(1180-1182)ggG>ggA p.G394G C19orf47_ENST00000584868.1_Intron|C19orf47_ENST00000392035.2_Silent_p.G327G NM_001256440.1 NP_001243369.1 Q8N9M1 CS047_HUMAN chromosome 19 open reading frame 47 394 endometrium(5)|kidney(2)|lung(7)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1) 20 Lung(22;0.000636) TGGAGCTGCTCCCCCGGGGCC 0.642000 23 45 0 0 1 0 0 B4GALNT3 283358 broad.mit.edu 37 12 662760 662760 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:662760G>A ENST00000266383.5 + 14 1684 c.1671G>A c.(1669-1671)agG>agA p.R557R NM_173593.3 NP_775864.3 Q6L9W6 B4GN3_HUMAN beta-1,4-N-acetyl-galactosaminyl transferase 3 557 Golgi cisterna membrane|integral to membrane N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 26 all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215) OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262) ACAGCCCCAGGAAGACTCAGT 0.642000 38 67 0 0 1 0 0 FARP2 9855 broad.mit.edu 37 2 242423731 242423731 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:242423731C>T ENST00000264042.3 + 21 2576 c.2406C>T c.(2404-2406)ccC>ccT p.P802P NM_014808.2 NP_055623.1 O94887 FARP2_HUMAN FERM, RhoGEF and pleckstrin domain protein 2 802 PH 1. axon guidance|neuron remodeling|Rac protein signal transduction|regulation of Rho protein signal transduction cytoskeleton|cytosol|extrinsic to membrane cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 43 all_cancers(19;4.88e-34)|all_epithelial(40;4.81e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Lung NSC(271;0.0886)|Ovarian(221;0.0905)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238) Epithelial(32;1.81e-33)|all cancers(36;1.61e-30)|OV - Ovarian serous cystadenocarcinoma(60;6.83e-15)|Kidney(56;1.19e-08)|KIRC - Kidney renal clear cell carcinoma(57;8.98e-08)|BRCA - Breast invasive adenocarcinoma(100;1.49e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00125)|Colorectal(34;0.0199)|COAD - Colon adenocarcinoma(134;0.121) GCCTCCTTCCCCTCCAAGGCA 0.577000 24 59 0 0 1 0 0 HAPLN1 1404 broad.mit.edu 37 5 82937418 82937418 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:82937418G>A ENST00000274341.4 - 5 1812 c.962C>T c.(961-963)cCa>cTa p.P321L NM_001884.3 NP_001875.1 P10915 HPLN1_HUMAN hyaluronan and proteoglycan link protein 1 321 Link 2. cell adhesion proteinaceous extracellular matrix hyaluronic acid binding breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|liver(1)|lung(15)|ovary(1)|prostate(1)|skin(1) 34 Lung NSC(167;0.0484)|all_lung(232;0.0522)|Ovarian(174;0.142) OV - Ovarian serous cystadenocarcinoma(54;7.82e-42)|Epithelial(54;5.88e-35)|all cancers(79;1.14e-29) GCGCCTTCTTGGCCTAGAGAT 0.537000 86 161 0 0 1 0 0 DNAH7 56171 broad.mit.edu 37 2 196771633 196771633 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:196771633C>T ENST00000312428.6 - 26 4305 c.4205G>A c.(4204-4206)aGa>aAa p.R1402K NM_018897.2 NP_061720.2 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 1402 AAA 1 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3) 205 TCCATTACCTCTTTGGATAGT 0.373000 18 37 0 0 1 0 0 CASR 846 broad.mit.edu 37 3 122003021 122003021 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:122003021G>A ENST00000498619.1 + 7 2688 c.2250G>A c.(2248-2250)gtG>gtA p.V750V CASR_ENST00000490131.1_Silent_p.V740V|CASR_ENST00000296154.5_Silent_p.V740V NM_001178065.1 NP_001171536.1 P41180 CASR_HUMAN calcium-sensing receptor 740 anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification integral to plasma membrane G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 84 GBM - Glioblastoma multiforme(114;0.226) Cinacalcet(DB01012) TCATCTGTGTGATCTGGCTCT 0.592000 30 58 0 0 1 0 0 DUSP27 92235 broad.mit.edu 37 1 167064092 167064092 + Silent SNP G G A rs150412578 by1000genomes TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:167064092G>A ENST00000361200.2 + 2 172 c.6G>A c.(4-6)gcG>gcA p.A2A DUSP27_ENST00000443333.1_Silent_p.A2A|DUSP27_ENST00000271385.5_Silent_p.A2A Q5VZP5 DUS27_HUMAN dual specificity phosphatase 27 (putative) 2 protein dephosphorylation protein tyrosine/serine/threonine phosphatase activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3) 89 TTGTCATGGCGACCAGAAAGG 0.552000 10 17 0 0 1 0 0 SPHKAP 80309 broad.mit.edu 37 2 228882420 228882420 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:228882420C>T ENST00000392056.3 - 7 3196 c.3150G>A c.(3148-3150)acG>acA p.T1050T SPHKAP_ENST00000344657.5_Silent_p.T1050T NM_001142644.1 NP_001136116.1 Q2M3C7 SPKAP_HUMAN SPHK1 interactor, AKAP domain containing 1050 cytoplasm protein binding NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 185 Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23) Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232) TAGAGAACTCCGTTAGGTTCA 0.542000 51 104 0 0 1 0 0 CLTCL1 8218 broad.mit.edu 37 22 19171065 19171065 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr22:19171065C>T ENST00000263200.10 - 30 4737 c.4665G>A c.(4663-4665)caG>caA p.Q1555Q CLTCL1_ENST00000353891.5_Silent_p.Q1498Q|CLTCL1_ENST00000442042.2_5'UTR|CLTCL1_ENST00000427926.1_Silent_p.Q1555Q NM_007098.3 NP_009029.3 P53675 CLH2_HUMAN clathrin, heavy chain-like 1 1555 Heavy chain arm.|Proximal segment.|Trimerization (By similarity). anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network protein binding|signal transducer activity|structural molecule activity breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 49 Colorectal(54;0.0993) CCAGGAACCACTGCAGCAACT 0.597000 T ? ALCL 27 65 0 0 1 0 0 FREM1 158326 broad.mit.edu 37 9 14806700 14806700 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:14806700G>A ENST00000380881.4 - 19 4051 c.3236C>T c.(3235-3237)cCt>cTt p.P1079L FREM1_ENST00000422223.2_Missense_Mutation_p.P1078L|FREM1_ENST00000380880.3_Missense_Mutation_p.P1078L Q5H8C1 FREM1_HUMAN FRAS1 related extracellular matrix 1 1078 cell communication|multicellular organismal development basement membrane|integral to membrane metal ion binding|sugar binding breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 GBM - Glioblastoma multiforme(50;3.53e-06) ACCCACAGAAGGGAGTATATT 0.428000 6 6 0 0 1 0 0 NPSR1 387129 broad.mit.edu 37 7 34884512 34884512 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:34884512G>A ENST00000360581.1 + 7 890 c.762G>A c.(760-762)ggG>ggA p.G254G NPSR1_ENST00000381539.3_Silent_p.G254G|NPSR1_ENST00000359791.1_Silent_p.G254G|NPSR1_ENST00000381542.1_Silent_p.G188G|NPSR1_ENST00000531252.1_Silent_p.G243G NM_207172.1 NP_997055.1 Q6W5P4 NPSR1_HUMAN neuropeptide S receptor 1 254 cytoplasm|integral to membrane|plasma membrane vasopressin receptor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(7) 31 Halothane(DB01159) CTACAGATGGGAAACTGTGCA 0.403000 34 77 0 0 1 0 0 SCNN1G 6340 broad.mit.edu 37 16 23226575 23226575 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr16:23226575C>T ENST00000300061.2 + 13 1878 c.1735C>T c.(1735-1737)Ccc>Tcc p.P579S NM_001039.3 NP_001030.2 P51170 SCNNG_HUMAN sodium channel, non-voltage-gated 1, gamma subunit 579 excretion|sensory perception of taste apical plasma membrane|integral to plasma membrane ligand-gated sodium channel activity|WW domain binding NS(2)|autonomic_ganglia(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 34 GBM - Glioblastoma multiforme(48;0.0366) Amiloride(DB00594)|Triamterene(DB00384) GAAACAGGCTCCCCCATGTCC 0.562000 5 178 0 0 1 0 0 OR2T10 127069 broad.mit.edu 37 1 248756722 248756722 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:248756722G>A ENST00000330500.2 - 1 378 c.348C>T c.(346-348)gcC>gcT p.A116A NM_001004693.1 NP_001004693.1 Q8NGZ9 O2T10_HUMAN olfactory receptor, family 2, subfamily T, member 10 116 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(17)|skin(3)|upper_aerodigestive_tract(1) 26 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) AGGCCATGGCGGCTAGAAGGC 0.562000 12 91 0 0 1 0 0 CDC27 996 broad.mit.edu 37 17 45214689 45214689 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:45214689C>T ENST00000066544.3 - 14 1835 c.1742G>A c.(1741-1743)cGg>cAg p.R581Q CDC27_ENST00000527547.1_Missense_Mutation_p.R580Q|CDC27_ENST00000446365.2_Missense_Mutation_p.R520Q|CDC27_ENST00000531206.1_Missense_Mutation_p.R587Q NM_001114091.1|NM_001256.3 NP_001107563.1|NP_001247.3 P30260 CDC27_HUMAN cell division cycle 27 581 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule protein phosphatase binding NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2) 90 ATCATGTTCCCGTTGCAGACT 0.358000 4 81 0 0 1 0 0 ANO4 121601 broad.mit.edu 37 12 101433734 101433734 + Splice_Site SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:101433734G>A ENST00000392979.3 + 10 1155 c.792_splice c.e10-1 p.G265_splice ANO4_ENST00000299222.9_5'UTR|ANO4_ENST00000392977.3_Splice_Site_p.G300_splice NM_178826.3 NP_849148.2 Q32M45 ANO4_HUMAN anoctamin 4 300 chloride channel complex chloride channel activity NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1) 78 TTATCCCAGGGAAGTTATAGA 0.453000 HNSCC(74;0.22) 52 108 0 0 1 0 0 ZNF429 353088 broad.mit.edu 37 19 21719093 21719093 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:21719093C>T ENST00000358491.4 + 4 446 c.238C>T c.(238-240)Cat>Tat p.H80Y ZNF429_ENST00000594022.1_3'UTR|ZNF429_ENST00000597078.1_Intron NM_001001415.2 NP_001001415.2 Q86V71 ZN429_HUMAN zinc finger protein 429 80 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|kidney(2)|large_intestine(13)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2) 34 TGTGTGTTCTCATTTTGCTGA 0.308000 18 47 0 0 1 0 0 PRKACB 5567 broad.mit.edu 37 1 84649786 84649786 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:84649786C>T ENST00000370689.2 + 4 568 c.304C>T c.(304-306)Cct>Tct p.P102S PRKACB_ENST00000370685.3_Missense_Mutation_p.P149S|PRKACB_ENST00000470673.1_3'UTR|PRKACB_ENST00000370680.1_Missense_Mutation_p.P108S|PRKACB_ENST00000370688.3_Missense_Mutation_p.P102S|PRKACB_ENST00000394838.2_Missense_Mutation_p.P109S|PRKACB_ENST00000394839.2_Intron|PRKACB_ENST00000370682.3_Missense_Mutation_p.P106S NM_001242862.1|NM_002731.2 NP_001229791.1|NP_002722.1 P22694 KAPCB_HUMAN protein kinase, cAMP-dependent, catalytic, beta 102 Protein kinase. activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein signaling, coupled to cAMP nucleotide second messenger|gluconeogenesis|intracellular protein kinase cascade|nerve growth factor receptor signaling pathway|regulation of insulin secretion|synaptic transmission|transmembrane transport|triglyceride catabolic process|water transport cAMP-dependent protein kinase complex|centrosome|cytosol|nucleoplasm|plasma membrane ATP binding|cAMP-dependent protein kinase activity|magnesium ion binding|protein binding breast(1)|endometrium(2)|kidney(1)|lung(11)|ovary(1) 16 all cancers(265;0.00536)|Epithelial(280;0.0161)|OV - Ovarian serous cystadenocarcinoma(397;0.141) AGTGAATTTTCCTTTCCTTGT 0.264000 4 125 0 0 1 0 0 TBC1D13 54662 broad.mit.edu 37 9 131568245 131568245 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:131568245C>T ENST00000372648.5 + 10 1176 c.1026C>T c.(1024-1026)ttC>ttT p.F342F TBC1D13_ENST00000539497.1_Silent_p.F161F|TBC1D13_ENST00000223865.8_Silent_p.F217F NM_018201.3 NP_060671.3 Q9NVG8 TBC13_HUMAN TBC1 domain family, member 13 342 Rab-GAP TBC. intracellular Rab GTPase activator activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2) 6 ACTCCCTCTTCGCCGATGACA 0.582000 7 89 0 0 1 0 0 PKD1L1 168507 broad.mit.edu 37 7 47917170 47917170 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:47917170G>A ENST00000289672.2 - 22 3630 c.3580C>T c.(3580-3582)Cgg>Tgg p.R1194W NM_138295.3 NP_612152.1 Q8TDX9 PK1L1_HUMAN polycystic kidney disease 1 like 1 1194 REJ. cell-cell adhesion integral to membrane BBS9/PKD1L1(2) NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5) 142 GCCATGTCCCGAGGAGCCGGG 0.542000 48 94 0 0 1 0 0 MME 4311 broad.mit.edu 37 3 154858057 154858057 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:154858057C>T ENST00000460393.1 + 10 1053 c.933C>T c.(931-933)aaC>aaT p.N311N MME_ENST00000493237.1_Silent_p.N311N|MME_ENST00000492661.1_Silent_p.N311N|MME_ENST00000360490.2_Silent_p.N311N|MME_ENST00000462745.1_Silent_p.N311N NM_000902.3|NM_007287.2 NP_000893.2|NP_009218.2 P08473 NEP_HUMAN membrane metallo-endopeptidase 311 cell-cell signaling|proteolysis integral to plasma membrane metal ion binding|metalloendopeptidase activity|protein binding central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 64 all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122) LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135) Candoxatril(DB00616) TCCAAAATAACTTTTCACTAG 0.328000 12 37 0 0 1 0 0 BRINP3 339479 broad.mit.edu 37 1 190067749 190067749 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:190067749G>A ENST00000367462.3 - 8 1931 c.1700C>T c.(1699-1701)cCa>cTa p.P567L FAM5C_ENST00000534846.1_Missense_Mutation_p.P465L|FAM5C_ENST00000484105.1_5'UTR NM_199051.1 NP_950252.1 Q76B58 FAM5C_HUMAN 567 extracellular region NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2) 164 Prostate(682;0.198) AGCCAACACTGGCTCCAAGGT 0.458000 83 109 0 0 1 0 0 FOXN4 121643 broad.mit.edu 37 12 109723196 109723196 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:109723196G>A ENST00000299162.5 - 8 918 c.814C>T c.(814-816)Ctg>Ttg p.L272L FOXN4_ENST00000355216.1_Silent_p.L92L NM_213596.2 NP_998761.2 Q96NZ1 FOXN4_HUMAN forkhead box N4 272 axon extension|embryo development|organ development|pattern specification process|regulation of heart contraction|regulation of sequence-specific DNA binding transcription factor activity|tissue development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding large_intestine(5)|lung(9)|ovary(2) 16 ATGCGGGCCAGGTTCAGAGCC 0.607000 20 41 0 0 1 0 0 DNAH9 1770 broad.mit.edu 37 17 11651035 11651035 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:11651035G>A ENST00000262442.3 + 32 6630 c.6562G>A c.(6562-6564)Gat>Aat p.D2188N DNAH9_ENST00000454412.2_Missense_Mutation_p.D2188N NM_001372.3 NP_001363.2 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 2188 AAA 2 (By similarity). cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4) 290 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) AGTCACAAATGATGAGCTCTT 0.522000 24 59 0 0 1 0 0 EPHA6 285220 broad.mit.edu 37 3 97194269 97194269 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:97194269C>T ENST00000389672.5 + 8 2006 c.1968C>T c.(1966-1968)ctC>ctT p.L656L EPHA6_ENST00000514100.1_Silent_p.L48L|EPHA6_ENST00000442602.2_Silent_p.L22L|EPHA6_ENST00000502694.1_Silent_p.L48L NM_001080448.2 NP_001073917.2 Q9UF33 EPHA6_HUMAN EPH receptor A6 561 Protein kinase. integral to plasma membrane ATP binding|ephrin receptor activity NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2) 101 TCACTCTCCTCGTCATCCTCA 0.403000 8 21 0 0 1 0 0 SLC10A2 6555 broad.mit.edu 37 13 103718345 103718345 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr13:103718345G>A ENST00000245312.3 - 1 851 c.255C>T c.(253-255)atC>atT p.I85I NM_000452.2 NP_000443.1 Q12908 NTCP2_HUMAN solute carrier family 10 (sodium/bile acid cotransporter), member 2 85 bile acid metabolic process|organic anion transport integral to plasma membrane bile acid:sodium symporter activity breast(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 all_neural(89;0.0662)|Medulloblastoma(90;0.163)|Lung SC(71;0.211) CCACCGACAGGATGAATCCTG 0.527000 15 105 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9091402 9091402 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:9091402C>T ENST00000397910.4 - 1 616 c.413G>A c.(412-414)gGa>gAa p.G138E NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 138 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 GGTAAAATTTCCTTCTGTGGA 0.493000 23 56 0 0 1 0 0 ABCA8 10351 broad.mit.edu 37 17 66925248 66925248 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:66925248G>A ENST00000269080.2 - 8 1204 c.1067C>T c.(1066-1068)tCc>tTc p.S356F ABCA8_ENST00000430352.2_Missense_Mutation_p.S356F|ABCA8_ENST00000586539.1_Missense_Mutation_p.S356F NM_007168.2 NP_009099.1 O94911 ABCA8_HUMAN ATP-binding cassette, sub-family A (ABC1), member 8 356 integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4) 83 Breast(10;4.56e-13) CCACTCCAAGGATGCAGGAAG 0.478000 29 75 0 0 1 0 0 AOX1 316 broad.mit.edu 37 2 201527596 201527596 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:201527596G>A ENST00000374700.2 + 31 3688 c.3447G>A c.(3445-3447)atG>atA p.M1149I AOX1_ENST00000485106.1_3'UTR NM_001159.3 NP_001150.3 Q06278 ADO_HUMAN aldehyde oxidase 1 1149 inflammatory response|reactive oxygen species metabolic process cytoplasm 2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 81 Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909) AGTCAGACATGAACTGGGAGA 0.468000 38 80 0 0 1 0 0 SEC23A 10484 broad.mit.edu 37 14 39517893 39517893 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr14:39517893G>A ENST00000537403.1 - 11 2296 c.1094C>T c.(1093-1095)tCc>tTc p.S365F SEC23A_ENST00000545328.2_Missense_Mutation_p.S538F|SEC23A_ENST00000307712.6_Missense_Mutation_p.S567F|SEC23A_ENST00000536508.1_Missense_Mutation_p.S441F Q15436 SC23A_HUMAN Sec23 homolog A (S. cerevisiae) 567 COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine COPII vesicle coat|cytosol|Golgi membrane|smooth endoplasmic reticulum membrane protein binding|zinc ion binding kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(1) 23 Hepatocellular(127;0.213) Lung(238;0.00047)|LUAD - Lung adenocarcinoma(48;0.000565) GBM - Glioblastoma multiforme(112;0.0151) AAATCTGAAGGAACTTGGGTC 0.318000 4 75 0 0 1 0 0 ATXN2L 11273 broad.mit.edu 37 16 28847405 28847405 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr16:28847405C>T ENST00000336783.4 + 22 3214 c.3047C>T c.(3046-3048)tCc>tTc p.S1016F ATXN2L_ENST00000395547.2_Missense_Mutation_p.S1016F|ATXN2L_ENST00000382686.4_Missense_Mutation_p.S1016F|ATXN2L_ENST00000340394.8_Missense_Mutation_p.S1016F|ATXN2L_ENST00000325215.6_Missense_Mutation_p.S1016F|ATXN2L_ENST00000570200.1_Missense_Mutation_p.S1016F|RP11-24N18.1_ENST00000563565.1_RNA|ATXN2L_ENST00000564304.1_Missense_Mutation_p.S1022F NM_007245.3 NP_009176.2 Q8WWM7 ATX2L_HUMAN ataxin 2-like 1016 membrane breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 36 CTCTCAGCTTCCACACCCTCA 0.672000 61 129 0 0 1 0 0 HTR2A 3356 broad.mit.edu 37 13 47409352 47409352 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr13:47409352C>T ENST00000378688.4 - 3 1167 c.1036G>A c.(1036-1038)Gcc>Acc p.A346T HTR2A_ENST00000542664.1_Missense_Mutation_p.A346T|HTR2A_ENST00000543956.1_Missense_Mutation_p.A262T P28223 5HT2A_HUMAN 5-hydroxytryptamine (serotonin) receptor 2A, G protein-coupled 346 ERK1 and ERK2 cascade|phosphatidylinositol 3-kinase cascade|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission integral to plasma membrane 1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|serotonin binding|serotonin receptor activity breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 36 all_lung(13;7.2e-10)|Lung NSC(96;3.77e-07)|Breast(56;2.06e-05)|Prostate(109;0.00116)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|Myeloproliferative disorder(33;0.0333) GBM - Glioblastoma multiforme(144;4.67e-05)|COAD - Colon adenocarcinoma(199;0.224) Aripiprazole(DB01238)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cisapride(DB00604)|Clomipramine(DB01242)|Clozapine(DB00363)|Cyclobenzaprine(DB00924)|Cyproheptadine(DB00434)|Dihydroergotamine(DB00320)|Donepezil(DB00843)|Epinastine(DB00751)|Ergotamine(DB00696)|Fluvoxamine(DB00176)|Mesoridazine(DB00933)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Olanzapine(DB00334)|Paliperidone(DB01267)|Paroxetine(DB00715)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246) CAGATGACGGCCATGATGTTT 0.493000 46 98 0 0 1 0 0 SLC2A4 6517 broad.mit.edu 37 17 7186672 7186672 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:7186672C>T ENST00000317370.8 + 2 410 c.142C>T c.(142-144)Cct>Tct p.P48S SLC2A4_ENST00000424875.2_Missense_Mutation_p.P38S|SLC2A4_ENST00000571308.1_Missense_Mutation_p.P48S|RP1-4G17.2_ENST00000576271.1_RNA NM_001042.2 NP_001033.1 P14672 GTR4_HUMAN solute carrier family 2 (facilitated glucose transporter), member 4 48 carbohydrate metabolic process|glucose homeostasis|glucose import external side of plasma membrane|integral to plasma membrane|perinuclear region of cytoplasm D-glucose transmembrane transporter activity|protein binding breast(1)|endometrium(3)|large_intestine(7)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 17 CATCAATGCCCCTCAGAAGGT 0.612000 54 75 0 0 1 0 0 SEC14L5 9717 broad.mit.edu 37 16 5057362 5057362 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr16:5057362C>T ENST00000251170.7 + 13 1627 c.1447C>T c.(1447-1449)Ccc>Tcc p.P483S NM_014692.1 NP_055507.1 O43304 S14L5_HUMAN SEC14-like 5 (S. cerevisiae) 483 integral to membrane|intracellular transporter activity NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|skin(1) 29 GTGTAATGTCCCCGAAGGAGG 0.597000 5 28 0 0 1 0 0 MEGF8 1954 broad.mit.edu 37 19 42839490 42839490 + Missense_Mutation SNP A A C TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:42839490A>C ENST00000334370.4 + 5 1416 c.781A>C c.(781-783)Aac>Cac p.N261H MEGF8_ENST00000251268.6_Missense_Mutation_p.N261H NM_001410.2 NP_001401.2 Q7Z7M0 MEGF8_HUMAN multiple EGF-like-domains 8 261 integral to membrane calcium ion binding|structural molecule activity breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 50 Prostate(69;0.00682) CGTCCTATACAACTTCTCCGC 0.617000 37 77 0 0 1 0 0 HCN1 348980 broad.mit.edu 37 5 45262552 45262552 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:45262552C>T ENST00000303230.4 - 8 2201 c.2144G>A c.(2143-2145)cGa>cAa p.R715Q NM_021072.3 NP_066550.2 O60741 HCN1_HUMAN hyperpolarization activated cyclic nucleotide-gated potassium channel 1 715 integral to membrane cAMP binding|sodium channel activity|voltage-gated potassium channel activity p.R715Q(1) NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5) 156 GTGGAAAGTTCGAGCGGCCAG 0.647000 16 65 0 0 1 0 0 ZNF573 126231 broad.mit.edu 37 19 38230056 38230056 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:38230056C>T ENST00000339503.4 - 8 1662 c.1161G>A c.(1159-1161)aaG>aaA p.K387K ZNF573_ENST00000536220.1_Silent_p.K357K|ZNF573_ENST00000392138.1_Silent_p.K358K|ZNF573_ENST00000357309.3_Silent_p.K357K|ZNF573_ENST00000590414.2_Silent_p.K445K NM_152360.3 NP_689573.3 Q86YE8 ZN573_HUMAN zinc finger protein 573 425 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|cervix(3)|endometrium(2)|large_intestine(8)|liver(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)|Lung(45;0.0813)|LUSC - Lung squamous cell carcinoma(53;0.146) TTTTACACTCCTTACATTCAA 0.368000 61 141 0 0 1 0 0 PRAMEF1 65121 broad.mit.edu 37 1 12854196 12854196 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:12854196G>A ENST00000332296.7 + 3 523 c.420G>A c.(418-420)agG>agA p.R140R NM_023013.2 NP_075389.1 O95521 PRAM1_HUMAN PRAME family member 1 140 cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 35 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) ACTGTCCAAGGATGGGAGAGC 0.532000 15 439 0 0 1 0 0 ITGB2 3689 broad.mit.edu 37 21 46319060 46319060 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr21:46319060G>A ENST00000397850.2 - 9 1367 c.915C>T c.(913-915)ggC>ggT p.G305G ITGB2_ENST00000397857.1_Silent_p.G305G|ITGB2_ENST00000355153.4_Silent_p.G305G|ITGB2_ENST00000397854.3_Silent_p.G248G|ITGB2_ENST00000302347.5_Silent_p.G305G|ITGB2_ENST00000397852.1_Silent_p.G305G P05107 ITB2_HUMAN integrin, beta 2 (complement component 3 receptor 3 and 4 subunit) 305 VWFA. apoptosis|blood coagulation|cell-cell signaling|cell-matrix adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|multicellular organismal development|neutrophil chemotaxis|regulation of cell shape|regulation of immune response|regulation of peptidyl-tyrosine phosphorylation integrin complex glycoprotein binding|protein kinase binding|receptor activity breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(4)|skin(3) 35 Colorectal(79;0.0669) Simvastatin(DB00641) GCGCCAGCTGGCCCACCGATG 0.627000 21 46 0 0 1 0 0 OR1J2 26740 broad.mit.edu 37 9 125273253 125273253 + Missense_Mutation SNP C C T rs150299329 TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:125273253C>T ENST00000335302.5 + 1 173 c.173C>T c.(172-174)cCc>cTc p.P58L NM_054107.1 NP_473448.1 Q8NGS2 OR1J2_HUMAN olfactory receptor, family 1, subfamily J, member 2 58 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(7)|stomach(1) 26 CTTCACACCCCCATGTACTTC 0.527000 39 196 0 0 1 0 0 MTCH1 23787 broad.mit.edu 37 6 36945899 36945899 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:36945899G>A ENST00000373627.5 - 4 670 c.546C>T c.(544-546)tcC>tcT p.S182S MTCH1_ENST00000373616.5_Silent_p.S182S|MTCH1_ENST00000538808.1_Silent_p.S26S NM_001271641.1 NP_001258570.1 Q9NZJ7 MTCH1_HUMAN mitochondrial carrier 1 182 activation of caspase activity|neuronal ion channel clustering|positive regulation of apoptosis|regulation of signal transduction|transport integral to membrane|mitochondrial inner membrane protein binding endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1) 6 CATCCTTGTTGGAAACCTGCT 0.502000 24 107 0 0 1 0 0 KCNH7 90134 broad.mit.edu 37 2 163250930 163250930 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:163250930C>T ENST00000332142.5 - 12 2778 c.2679G>A c.(2677-2679)agG>agA p.R893R NM_033272.3 NP_150375.2 Q9NS40 KCNH7_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 7 893 regulation of transcription, DNA-dependent integral to membrane protein binding|signal transducer activity NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3) 108 Ibutilide(DB00308) ATGACAATTTCCTTCTTCTTA 0.333000 36 31 0 0 1 0 0 CSMD1 64478 broad.mit.edu 37 8 2823435 2823435 + Nonsense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:2823435G>A ENST00000602557.1 - 60 9700 c.9145C>T c.(9145-9147)Cag>Tag p.Q3049* CSMD1_ENST00000602723.1_Intron|CSMD1_ENST00000537824.1_Nonsense_Mutation_p.Q3048*|CSMD1_ENST00000400186.3_Intron|CSMD1_ENST00000542608.1_Intron|CSMD1_ENST00000520002.1_Nonsense_Mutation_p.Q3049* Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 3049 Sushi 24. integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) GTCCCAAACTGGATGCCATTT 0.433000 6 16 0 0 1 0 0 NIPBL 25836 broad.mit.edu 37 5 36985275 36985275 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:36985275G>A ENST00000282516.8 + 10 2492 c.1993G>A c.(1993-1995)Gag>Aag p.E665K NIPBL_ENST00000504430.1_3'UTR|NIPBL_ENST00000448238.2_Missense_Mutation_p.E665K NM_015384.4|NM_133433.3 NP_056199.2|NP_597677.2 Q6KC79 NIPBL_HUMAN Nipped-B homolog (Drosophila) 665 brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis SMC loading complex chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding p.E665K(2) autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4) 128 all_lung(31;0.000447)|Hepatocellular(1;0.108) Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202) CAAACAAAACGAGAGCACCAT 0.343000 5 184 0 0 1 0 0 DGKB 1607 broad.mit.edu 37 7 14613956 14613956 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:14613956C>T ENST00000403951.2 - 20 2073 c.1654G>A c.(1654-1656)Gaa>Aaa p.E552K DGKB_ENST00000402815.1_Missense_Mutation_p.E551K|DGKB_ENST00000444700.2_Missense_Mutation_p.E533K|DGKB_ENST00000407950.1_Missense_Mutation_p.E544K|DGKB_ENST00000258767.5_Missense_Mutation_p.E552K|DGKB_ENST00000406247.3_Missense_Mutation_p.E552K|DGKB_ENST00000403963.1_5'UTR|DGKB_ENST00000399322.3_Missense_Mutation_p.E552K Q9Y6T7 DGKB_HUMAN diacylglycerol kinase, beta 90kDa 552 DAGKc. activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation cytoplasm|plasma membrane ATP binding|calcium ion binding|diacylglycerol kinase activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 72 Phosphatidylserine(DB00144) GTGCTGTTTTCAATGTCTTTT 0.348000 47 93 0 0 1 0 0 CNTFR 1271 broad.mit.edu 37 9 34552687 34552687 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:34552687C>T ENST00000378980.3 - 8 1227 c.934G>A c.(934-936)Gag>Aag p.E312K CNTFR_ENST00000351266.4_Missense_Mutation_p.E312K NM_001207011.1|NM_147164.2 NP_001193940.1|NP_671693.1 P26992 CNTFR_HUMAN ciliary neurotrophic factor receptor 312 nervous system development anchored to membrane|extrinsic to membrane|plasma membrane ciliary neurotrophic factor receptor activity|receptor binding breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(4)|skin(1) 15 all_epithelial(49;0.0899) STAD - Stomach adenocarcinoma(86;0.212) GBM - Glioblastoma multiforme(74;0.00494) GCCTGGGCCTCCGTGGTGAGG 0.647000 35 47 0 0 1 0 0 OR6C4 341418 broad.mit.edu 37 12 55945126 55945126 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:55945126G>A ENST00000394256.2 + 1 144 c.116G>A c.(115-117)gGa>gAa p.G39E RP11-110A12.2_ENST00000555138.1_RNA|RP11-110A12.2_ENST00000556750.1_RNA NM_001005494.1 NP_001005494.1 Q8NGE1 OR6C4_HUMAN olfactory receptor, family 6, subfamily C, member 4 39 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1) 11 AGTATCCTAGGAAATCTGACT 0.418000 90 201 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9050038 9050038 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:9050038G>A ENST00000397910.4 - 5 31796 c.31593C>T c.(31591-31593)ttC>ttT p.F10531F NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 10533 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 GAACATCAGGGAAAACATATG 0.478000 137 270 0 0 1 0 0 CPNE3 8895 broad.mit.edu 37 8 87567117 87567117 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:87567117C>T ENST00000521271.1 + 15 1321 c.1159C>T c.(1159-1161)Cct>Tct p.P387S CPNE3_ENST00000198765.4_Missense_Mutation_p.P387S NM_003909.3 NP_003900.1 O75131 CPNE3_HUMAN copine III 387 VWFA. lipid metabolic process|vesicle-mediated transport cytosol calcium-dependent phospholipid binding|protein serine/threonine kinase activity|transporter activity NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 23 GTCTTGTCTTCCTCAGATAAA 0.398000 50 103 0 0 1 0 0 MROH9 80133 broad.mit.edu 37 1 170952642 170952642 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:170952642G>A ENST00000367759.4 + 9 850 c.696G>A c.(694-696)aaG>aaA p.K232K MROH9_ENST00000367758.3_Silent_p.K232K NM_001163629.1 NP_001157101.1 maestro heat-like repeat family member 9 p.K232N(2) TTCTACCCAAGGAGTTTCAAC 0.363000 20 61 0 0 1 0 0 LILRA2 11027 broad.mit.edu 37 19 55086317 55086317 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:55086317G>A ENST00000251377.3 + 5 605 c.472G>A c.(472-474)Gga>Aga p.G158R LILRB1_ENST00000448689.1_Intron|LILRA2_ENST00000391738.3_Missense_Mutation_p.G158R|LILRA2_ENST00000391737.1_Missense_Mutation_p.G146R|LILRA2_ENST00000495786.1_3'UTR|LILRB1_ENST00000418536.2_Intron|LILRB1_ENST00000396321.2_Intron|LILRA2_ENST00000251376.3_Missense_Mutation_p.G158R leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2 breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 50 GBM - Glioblastoma multiforme(193;0.0963) GTGTAAGGAAGGAGAAGATGA 0.602000 77 180 0 0 1 0 0 ELMOD1 55531 broad.mit.edu 37 11 107518235 107518235 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:107518235G>A ENST00000265840.7 + 7 727 c.462G>A c.(460-462)cgG>cgA p.R154R ELMOD1_ENST00000531234.1_Silent_p.R148R|ELMOD1_ENST00000443271.2_Silent_p.R154R NM_018712.3 NP_061182.3 Q8N336 ELMD1_HUMAN ELMO/CED-12 domain containing 1 154 ELMO. phagocytosis cytoskeleton GTPase activator activity endometrium(2)|large_intestine(5)|liver(2)|lung(7)|pancreas(2)|prostate(1) 19 Melanoma(852;0.000288)|Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00301)|all_epithelial(67;0.00304)|Breast(348;0.104) BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Epithelial(105;0.00027)|all cancers(92;0.00481) TGGAATCTCGGATTTCTAAGC 0.388000 21 20 0 0 1 0 0 ALK 238 broad.mit.edu 37 2 29450499 29450499 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:29450499C>T ENST00000389048.3 - 17 3761 c.2855G>A c.(2854-2856)gGg>gAg p.G952E ALK_ENST00000431873.1_Intron NM_004304.4 NP_004295.2 Q9UM73 ALK_HUMAN anaplastic lymphoma receptor tyrosine kinase 952 protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9) NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2) 340 Acute lymphoblastic leukemia(172;0.155) Adenosine triphosphate(DB00171) CCCATCTTCCCCATCCATTTC 0.507000 """T, Mis, A""" """NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22""" """ALCL, NSCLC, Neuroblastoma""" neuroblastoma Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome 51 102 0 0 1 0 0 COBL 23242 broad.mit.edu 37 7 51261210 51261210 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:51261210G>A ENST00000395542.2 - 3 506 c.322C>T c.(322-324)Cgg>Tgg p.R108W COBL_ENST00000441453.1_Missense_Mutation_p.R108W|COBL_ENST00000395540.2_Missense_Mutation_p.R108W|COBL_ENST00000265136.7_Missense_Mutation_p.R108W O75128 COBL_HUMAN cordon-bleu WH2 repeat protein 108 NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 65 Glioma(55;0.08) TCTGAAGACCGAATTTCAAGG 0.418000 24 56 0 0 1 0 0 PLCG2 5336 broad.mit.edu 37 16 81888120 81888120 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr16:81888120C>T ENST00000359376.3 + 3 479 c.265C>T c.(265-267)Cgc>Tgc p.R89C PLCG2_ENST00000565400.1_3'UTR NM_002661.3 NP_002652.2 P16885 PLCG2_HUMAN phospholipase C, gamma 2 (phosphatidylinositol-specific) 89 PH. intracellular signal transduction|phospholipid catabolic process|platelet activation plasma membrane phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1) 58 AAAAGCAGTTCGCCAGAAAGA 0.458000 67 60 0 0 1 0 0 SLC38A1 81539 broad.mit.edu 37 12 46622946 46622946 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:46622946G>A ENST00000398637.5 - 5 998 c.304C>T c.(304-306)Cta>Tta p.L102L SLC38A1_ENST00000549049.1_Silent_p.L102L|SLC38A1_ENST00000439706.1_Silent_p.L102L|SLC38A1_ENST00000549633.1_5'UTR|SLC38A1_ENST00000552197.1_Silent_p.L102L|SLC38A1_ENST00000546893.1_Silent_p.L102L NM_001077484.1|NM_001278387.1|NM_001278388.1|NM_001278389.1|NM_030674.3 NP_001070952.1|NP_001265316.1|NP_001265317.1|NP_001265318.1|NP_109599.3 Q9H2H9 S38A1_HUMAN solute carrier family 38, member 1 102 cellular nitrogen compound metabolic process|neurotransmitter uptake integral to membrane|plasma membrane sodium:amino acid symporter activity NS(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(2) 23 Lung SC(27;0.137)|Renal(347;0.236) all cancers(1;0.00805)|OV - Ovarian serous cystadenocarcinoma(5;0.0106)|Epithelial(2;0.0344) AGAAAAAGTAGGATTCCAGTG 0.388000 11 30 0 0 1 0 0 STAT4 6775 broad.mit.edu 37 2 191923489 191923489 + Silent SNP T T C TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:191923489T>C ENST00000392320.2 - 11 1355 c.1041A>G c.(1039-1041)ctA>ctG p.L347L STAT4_ENST00000358470.4_Silent_p.L347L NM_003151.3 NP_003142.1 Q14765 STAT4_HUMAN signal transducer and activator of transcription 4 347 JAK-STAT cascade cytoplasm|nucleus calcium ion binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity breast(4)|endometrium(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1) 42 OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204) GCAATTTTATTAGTAGCCTGG 0.239000 9 26 0 0 1 0 0 SCAND3 114821 broad.mit.edu 37 6 28554291 28554291 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:28554291C>T ENST00000452236.2 - 1 821 c.204G>A c.(202-204)gaG>gaA p.E68E SCAND3_ENST00000530247.1_Intron NM_052923.1 NP_443155.1 Q6R2W3 SCND3_HUMAN SCAN domain containing 3 68 SCAN box. DNA integration|viral reproduction nucleus DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3) 71 GACTCAGAGCCTCCCTGGGCC 0.532000 41 125 0 0 1 0 0 GRIN3A 116443 broad.mit.edu 37 9 104433273 104433273 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:104433273C>T ENST00000361820.3 - 3 2021 c.1421G>A c.(1420-1422)gGa>gAa p.G474E NM_133445.2 NP_597702.2 Q8TCU5 NMD3A_HUMAN glutamate receptor, ionotropic, N-methyl-D-aspartate 3A 474 response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1) 80 Acute lymphoblastic leukemia(62;0.0568) Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740) CATTGGCTTTCCCATGGGGTC 0.502000 80 181 0 0 1 0 0 COL4A5 1287 broad.mit.edu 37 X 107911605 107911605 + Missense_Mutation SNP C C T rs104886391 TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chrX:107911605C>T ENST00000328300.6 + 41 3905 c.3661C>T c.(3661-3663)Cca>Tca p.P1221S COL4A5_ENST00000361603.2_Missense_Mutation_p.P1221S NM_033380.2 NP_203699.1 P29400 CO4A5_HUMAN collagen, type IV, alpha 5 1221 Triple-helical region. axon guidance collagen type IV extracellular matrix structural constituent|protein binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 99 CCTTCCAGGTCCAAAGGGCGA 0.517000 Alport syndrome with Diffuse Leiomyomatosis 19 11 0 0 1 0 0 C17orf70 80233 broad.mit.edu 37 17 79517843 79517843 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:79517843C>T ENST00000537152.1 - 3 749 c.224G>A c.(223-225)gGg>gAg p.G75E C17orf70_ENST00000327787.8_Missense_Mutation_p.G226E NM_025161.5 NP_079437.5 Q0VG06 FP100_HUMAN chromosome 17 open reading frame 70 226 DNA repair cytoplasm|intermediate filament cytoskeleton|nucleoplasm DNA binding breast(1)|central_nervous_system(1)|endometrium(1)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 19 all_neural(118;0.0878)|Melanoma(429;0.242) BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0371) AAAGAGGAGCCCGAAGAGGGC 0.642000 24 46 0 0 1 0 0 NBPF10 100132406 broad.mit.edu 37 1 145323685 145323685 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:145323685C>T ENST00000342960.5 + 27 3557 c.3522C>T c.(3520-3522)gaC>gaT p.D1174D NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron NM_001039703.4 NP_001034792.4 A6NDV3 A6NDV3_HUMAN neuroblastoma breakpoint family, member 10 1174 NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2) 73 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) AGGAAGAAGACCAAGACCCAC 0.468000 70 1569 0 0 1 0 0 C16orf78 123970 broad.mit.edu 37 16 49430546 49430546 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr16:49430546G>A ENST00000299191.3 + 4 724 c.607G>A c.(607-609)Gaa>Aaa p.E203K NM_144602.2 NP_653203.1 Q8WTQ4 CP078_HUMAN chromosome 16 open reading frame 78 203 breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|upper_aerodigestive_tract(1) 22 ACCTAAGATGGAAACCATGAG 0.552000 14 15 0 0 1 0 0 PIWIL3 440822 broad.mit.edu 37 22 25124351 25124351 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr22:25124351C>T ENST00000332271.5 - 15 2141 c.1725G>A c.(1723-1725)ctG>ctA p.L575L PIWIL3_ENST00000533313.1_Intron|PIWIL3_ENST00000527701.1_Intron|PIWIL3_ENST00000532537.2_Intron NM_001008496.3|NM_001255975.1 NP_001008496.2|NP_001242904.1 Q7Z3Z3 PIWL3_HUMAN piwi-like RNA-mediated gene silencing 3 575 cell differentiation|gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatogenesis cytoplasm RNA binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(15)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 50 CCTTGAAAACCAGCAAACATG 0.408000 34 94 0 0 1 0 0 SCN4B 6330 broad.mit.edu 37 11 118023336 118023336 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:118023336C>T ENST00000324727.4 - 1 199 c.53G>A c.(52-54)gGg>gAg p.G18E SCN4B_ENST00000529878.1_Missense_Mutation_p.G18E NM_001142349.1|NM_174934.3 NP_001135821.1|NP_777594.1 Q8IWT1 SCN4B_HUMAN sodium channel, voltage-gated, type IV, beta subunit 18 voltage-gated sodium channel complex voltage-gated sodium channel activity kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1) 7 all_hematologic(175;0.0487) Medulloblastoma(222;0.0523)|all_hematologic(192;0.232) BRCA - Breast invasive adenocarcinoma(274;3.33e-05)|Epithelial(105;0.00126) ACCCAAAAGCCCAGTGCCCAG 0.657000 9 20 0 0 1 0 0 LEPREL1 55214 broad.mit.edu 37 3 189689789 189689789 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:189689789C>T ENST00000319332.5 - 12 1904 c.1707G>A c.(1705-1707)caG>caA p.Q569Q LEPREL1_ENST00000427335.2_Silent_p.Q388Q NM_018192.3 NP_060662.2 Q8IVL5 P3H2_HUMAN leprecan-like 1 569 Fe2OG dioxygenase. collagen metabolic process|negative regulation of cell proliferation|peptidyl-proline hydroxylation basement membrane|endoplasmic reticulum|Golgi apparatus iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(5) 41 all_cancers(143;4.01e-10)|Ovarian(172;0.0925) Lung(62;4.35e-05) GBM - Glioblastoma multiforme(93;0.02) L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126) TTCTTCTATCCTGCTGACCTG 0.473000 14 28 0 0 1 0 0 GPR110 266977 broad.mit.edu 37 6 46974998 46974998 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:46974998C>T ENST00000371253.2 - 12 2739 c.2524G>A c.(2524-2526)Gac>Aac p.D842N GPR110_ENST00000283297.5_Missense_Mutation_p.D645N|GPR110_ENST00000449332.2_5'UTR NM_153840.2 NP_722582.2 Q5T601 GP110_HUMAN G protein-coupled receptor 110 842 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 29 ACCTTACTGTCCAAGAGTATT 0.328000 24 73 0 0 1 0 0 GAD1 2571 broad.mit.edu 37 2 171686043 171686043 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:171686043G>A ENST00000358196.3 + 4 754 c.204G>A c.(202-204)aaG>aaA p.K68K GAD1_ENST00000429023.1_3'UTR|GAD1_ENST00000375272.1_Silent_p.K68K|GAD1_ENST00000344257.5_Silent_p.K68K NM_000817.2 NP_000808.2 Q99259 DCE1_HUMAN glutamate decarboxylase 1 (brain, 67kDa) 68 K -> R (in Ref. 2; AAA62368). glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion|protein-pyridoxal-5-phosphate linkage clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|plasma membrane glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(15)|ovary(1)|urinary_tract(2) 35 L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114) GTGCCTTCAAGGAGAGGCAAT 0.532000 51 116 0 0 1 0 0 OR6C2 341416 broad.mit.edu 37 12 55846379 55846379 + Missense_Mutation SNP C C A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:55846379C>A ENST00000322678.1 + 1 382 c.382C>A c.(382-384)Ctt>Att p.L128I RP11-110A12.2_ENST00000555138.1_RNA|RP11-110A12.2_ENST00000556750.1_RNA|RP11-110A12.2_ENST00000555146.1_RNA|RP11-110A12.2_ENST00000554049.1_RNA NM_054105.1 NP_473446.1 Q9NZP2 OR6C2_HUMAN olfactory receptor, family 6, subfamily C, member 2 128 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity kidney(2)|large_intestine(5)|lung(8)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 23 CTGTAAACCCCTTCATTATGT 0.433000 42 121 2.64894e-19 2.67506e-19 1 1 0 XYLT1 64131 broad.mit.edu 37 16 17228396 17228396 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr16:17228396G>A ENST00000261381.6 - 9 2045 c.1961C>T c.(1960-1962)tCc>tTc p.S654F CTD-2576D5.4_ENST00000567344.1_RNA NM_022166.3 NP_071449.1 Q86Y38 XYLT1_HUMAN xylosyltransferase I 654 glycosaminoglycan biosynthetic process endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane acetylglucosaminyltransferase activity|protein xylosyltransferase activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 67 GCGGGCAAAGGAGTGGTACAA 0.627000 44 118 0 0 1 0 0 WDR96 80217 broad.mit.edu 37 10 105923972 105923972 + Missense_Mutation SNP C C A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:105923972C>A ENST00000357060.3 - 24 3241 c.3126G>T c.(3124-3126)aaG>aaT p.K1042N WDR96_ENST00000428666.1_Missense_Mutation_p.K1043N NM_025145.5 NP_079421.5 Q8NDM7 WDR96_HUMAN WD repeat domain 96 1042 NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 72 CATTTCTTTCCTTCACGCGTG 0.353000 14 29 0.000151284 0.000151748 1 1 0 PCSK5 5125 broad.mit.edu 37 9 78638703 78638703 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:78638703G>A ENST00000545128.1 + 4 999 c.461G>A c.(460-462)gGa>gAa p.G154E PCSK5_ENST00000376767.3_Missense_Mutation_p.G154E|PCSK5_ENST00000376752.4_Missense_Mutation_p.G154E NM_001190482.1 NP_001177411.1 Q92824 PCSK5_HUMAN proprotein convertase subtilisin/kexin type 5 154 Catalytic. anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release extracellular space|Golgi lumen|stored secretory granule peptide binding|serine-type endopeptidase activity NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 55 AATATCGAAGGAGCCTGGAAG 0.453000 55 105 0 0 1 0 0 SORCS2 57537 broad.mit.edu 37 4 7684526 7684526 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:7684526G>A ENST00000507866.2 + 10 1507 c.1398G>A c.(1396-1398)atG>atA p.M466I SORCS2_ENST00000329016.9_Missense_Mutation_p.M294I NM_020777.2 NP_065828.2 Q96PQ0 SORC2_HUMAN sortilin-related VPS10 domain containing receptor 2 466 integral to membrane neuropeptide receptor activity autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(8)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 42 GGAAAGTGATGACGCTTATAA 0.468000 16 16 0 0 1 0 0 FAM81A 145773 broad.mit.edu 37 15 59752248 59752248 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr15:59752248C>T ENST00000288228.5 + 3 324 c.137C>T c.(136-138)gCc>gTc p.A46V NM_152450.2 NP_689663.2 Q8TBF8 FA81A_HUMAN family with sequence similarity 81, member A 46 endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|skin(1) 10 ACCACCGCCGCCCTCGTAGAG 0.537000 14 41 0 0 1 0 0 H3F3B 3021 broad.mit.edu 37 17 73775164 73775164 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:73775164G>A ENST00000254810.4 - 2 224 c.92C>T c.(91-93)cCc>cTc p.P31L H3F3B_ENST00000589599.1_Missense_Mutation_p.P31L|H3F3B_ENST00000586607.1_Missense_Mutation_p.P31L|H3F3B_ENST00000587560.1_Missense_Mutation_p.P31L|H3F3B_ENST00000591890.1_Missense_Mutation_p.P31L|H3F3B_ENST00000592643.1_Missense_Mutation_p.P31L|H3F3B_ENST00000593254.1_Intron NM_005324.3 NP_005315.1 P84243 H33_HUMAN H3 histone, family 3B (H3.3B) 31 blood coagulation|nucleosome assembly nucleoplasm|nucleosome DNA binding large_intestine(1)|lung(4)|ovary(2)|skin(1) 8 all_cancers(13;1.5e-07) all cancers(21;2.61e-06)|Epithelial(20;7.39e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|LUSC - Lung squamous cell carcinoma(166;0.154) GCCGGTAGAGGGAGCGCTTTT 0.637000 OREG0024740 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 5 72 0 0 1 0 0 CHP2 63928 broad.mit.edu 37 16 23767209 23767209 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr16:23767209C>T ENST00000300113.2 + 3 605 c.182C>T c.(181-183)cCc>cTc p.P61L NM_022097.2 NP_071380.1 O43745 CHP2_HUMAN calcineurin-like EF-hand protein 2 61 EF-hand 1. calcium ion binding central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(2)|stomach(1) 9 GBM - Glioblastoma multiforme(48;0.0144) GCCGTGAACCCCCTGGGAGAC 0.587000 22 52 0 0 1 0 0 TRERF1 55809 broad.mit.edu 37 6 42236944 42236944 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:42236944C>T ENST00000541110.1 - 5 953 c.385G>A c.(385-387)Gag>Aag p.E129K TRERF1_ENST00000340840.2_Missense_Mutation_p.E129K|TRERF1_ENST00000354325.2_Missense_Mutation_p.E129K|TRERF1_ENST00000372917.4_Missense_Mutation_p.E129K|TRERF1_ENST00000372922.4_Missense_Mutation_p.E129K Q96PN7 TREF1_HUMAN transcriptional regulating factor 1 129 cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process nucleus DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2) 45 Colorectal(47;0.196) Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152) GTCCGGATCTCGCTGGCCTGG 0.547000 107 444 0 0 1 0 0 RELN 5649 broad.mit.edu 37 7 103474025 103474025 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:103474025G>A ENST00000428762.1 - 3 591 c.432C>T c.(430-432)atC>atT p.I144I RELN_ENST00000424685.2_Silent_p.I144I|RELN_ENST00000343529.5_Silent_p.I144I NM_005045.3 NP_005036.2 P78509 RELN_HUMAN reelin 144 Reelin. axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2) 227 COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184) GAGCAATCCAGATGAAACTGA 0.488000 32 72 0 0 1 0 0 TRANK1 9881 broad.mit.edu 37 3 36884145 36884145 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:36884145C>T ENST00000429976.2 - 17 5363 c.5116G>A c.(5116-5118)Gga>Aga p.G1706R TRANK1_ENST00000428977.2_Missense_Mutation_p.G1156R|TRANK1_ENST00000301807.6_Missense_Mutation_p.G1156R O15050 TRNK1_HUMAN tetratricopeptide repeat and ankyrin repeat containing 1 1706 DNA repair ATP binding|ATP-dependent DNA helicase activity|DNA binding NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 73 TAGTAATCTCCCTGTGCAATC 0.498000 4 38 0 0 1 0 0 ITPR1 3708 broad.mit.edu 37 3 4725385 4725385 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:4725385C>T ENST00000354582.6 + 28 3751 c.3401C>T c.(3400-3402)tCc>tTc p.S1134F ITPR1_ENST00000443694.2_Missense_Mutation_p.S1119F|ITPR1_ENST00000456211.2_Missense_Mutation_p.S1110F|ITPR1_ENST00000423119.2_Missense_Mutation_p.S1125F|ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000302640.8_Missense_Mutation_p.S1119F|ITPR1_ENST00000357086.4_Missense_Mutation_p.S1125F Q14643 ITPR1_HUMAN inositol 1,4,5-trisphosphate receptor, type 1 1134 activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding p.S1125Y(1)|p.S1110Y(1)|p.S1119Y(1) NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2) 106 Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982) CAACTGAGGTCCATCGTGGAA 0.468000 49 83 0 0 1 0 0 CYP2C19 1557 broad.mit.edu 37 10 96540335 96540335 + Silent SNP C C T rs145272564 TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:96540335C>T ENST00000371321.3 + 4 643 c.561C>T c.(559-561)ttC>ttT p.F187F CYP2C19_ENST00000464755.1_3'UTR NM_000769.1 NP_000760.1 P33261 CP2CJ_HUMAN cytochrome P450, family 2, subfamily C, polypeptide 19 187 exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome (S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 43 Colorectal(252;0.09) all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838) Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582) AGAAACGTTTCGATTATAAAG 0.403000 80 125 0 0 1 0 0 MAN1A1 4121 broad.mit.edu 37 6 119526035 119526035 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:119526035C>T ENST00000368468.3 - 7 1446 c.1005G>A c.(1003-1005)agG>agA p.R335R NM_005907.3 NP_005898.2 P33908 MA1A1_HUMAN mannosidase, alpha, class 1A, member 1 335 post-translational protein modification|protein N-linked glycosylation via asparagine endoplasmic reticulum|ER-Golgi intermediate compartment|Golgi membrane|integral to membrane|membrane fraction calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|skin(3) 24 all_epithelial(87;0.173) OV - Ovarian serous cystadenocarcinoma(136;0.0612)|GBM - Glioblastoma multiforme(226;0.0702)|all cancers(137;0.115) AGGGCCAGTTCCTTCCAATAC 0.443000 31 74 0 0 1 0 0 NETO2 81831 broad.mit.edu 37 16 47117415 47117415 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr16:47117415G>A ENST00000562435.1 - 9 1679 c.1295C>T c.(1294-1296)tCc>tTc p.S432F NETO2_ENST00000303155.5_Missense_Mutation_p.S425F NM_018092.4 NP_060562.3 Q8NC67 NETO2_HUMAN neuropilin (NRP) and tolloid (TLL)-like 2 432 integral to membrane receptor activity breast(1)|cervix(1)|endometrium(1)|large_intestine(8)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(4) 29 all_cancers(37;0.00114)|all_lung(18;0.00432)|Lung NSC(13;0.0384)|Breast(268;0.174) GATGCAGCGGGAGGCGGTGGA 0.532000 HNSCC(25;0.065) 13 102 0 0 1 0 0 GEMIN5 25929 broad.mit.edu 37 5 154291379 154291379 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:154291379G>A ENST00000285873.7 - 15 2150 c.2075C>T c.(2074-2076)cCt>cTt p.P692L NM_001252156.1|NM_015465.4 NP_001239085.1|NP_056280.2 Q8TEQ6 GEMI5_HUMAN gem (nuclear organelle) associated protein 5 692 ncRNA metabolic process|protein complex assembly|spliceosomal snRNP assembly Cajal body|cytosol|spliceosomal complex protein binding|snRNA binding breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 38 Renal(175;0.00488) Medulloblastoma(196;0.0354)|all_neural(177;0.147) KIRC - Kidney renal clear cell carcinoma(527;0.00112) TGGATCCAAAGGAGACCATGC 0.532000 29 49 0 0 1 0 0 ZNF256 10172 broad.mit.edu 37 19 58455307 58455307 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:58455307G>A ENST00000282308.3 - 2 351 c.155C>T c.(154-156)tCc>tTc p.S52F ZNF256_ENST00000598928.1_Intron NM_005773.2 NP_005764.2 Q9Y2P7 ZN256_HUMAN zinc finger protein 256 52 KRAB. multicellular organismal development|negative regulation of transcription, DNA-dependent nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(1) 19 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0155) CTTACCCAGGGAGGTTGTAAG 0.512000 41 90 0 0 1 0 0 LRTM2 654429 broad.mit.edu 37 12 1943837 1943837 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:1943837G>A ENST00000543818.1 + 5 1905 c.1063G>A c.(1063-1065)Gac>Aac p.D355N CACNA2D4_ENST00000588077.1_Intron|LRTM2_ENST00000543730.1_3'UTR|LRTM2_ENST00000299194.1_Missense_Mutation_p.D355N|CACNA2D4_ENST00000587995.1_Intron|CACNA2D4_ENST00000586184.1_Intron|CACNA2D4_ENST00000382722.5_Intron|CACNA2D4_ENST00000585732.1_Intron|LRTM2_ENST00000535041.1_Missense_Mutation_p.D355N|CACNA2D4_ENST00000585708.1_Intron NM_001039029.2|NM_001163925.1|NM_001163926.1 NP_001034118.1|NP_001157397.1|NP_001157398.1 Q8N967 LRTM2_HUMAN leucine-rich repeats and transmembrane domains 2 355 integral to membrane NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|urinary_tract(1) 20 Ovarian(42;0.107) OV - Ovarian serous cystadenocarcinoma(31;0.000834) CCTGATGGGGGACCCCGAGGG 0.652000 8 98 0 0 1 0 0 SKP2 6502 broad.mit.edu 37 5 36182008 36182008 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:36182008C>T ENST00000274255.6 + 10 1346 c.1150C>T c.(1150-1152)Cct>Tct p.P384S SKP2_ENST00000274254.5_Intron|SKP2_ENST00000508514.1_Missense_Mutation_p.P177S|SKP2_ENST00000546211.1_Missense_Mutation_p.P170S NM_005983.3 NP_005974.2 Q13309 SKP2_HUMAN S-phase kinase-associated protein 2, E3 ubiquitin protein ligase 384 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|G1/S transition of mitotic cell cycle|S phase of mitotic cell cycle nucleoplasm|SCF ubiquitin ligase complex protein binding breast(1)|central_nervous_system(2)|ovary(1) 4 all_lung(31;5.63e-05) Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) GGAAGCCCTTCCTCATCTACA 0.443000 48 164 0 0 1 0 0 DNAH5 1767 broad.mit.edu 37 5 13752242 13752242 + Splice_Site SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:13752242C>T ENST00000265104.4 - 64 11133 c.e64+1 NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) GTTTAACCTACCTTAAAGGTA 0.383000 Kartagener syndrome 26 27 0 0 1 0 0 SLITRK4 139065 broad.mit.edu 37 X 142718417 142718417 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chrX:142718417G>A ENST00000381779.4 - 2 733 c.508C>T c.(508-510)Ctt>Ttt p.L170F SLITRK4_ENST00000356928.1_Missense_Mutation_p.L170F|SLITRK4_ENST00000338017.4_Missense_Mutation_p.L170F NM_001184749.1|NM_001184750.1|NM_173078.3 NP_001171678.1|NP_001171679.1|NP_775101.1 Q8IW52 SLIK4_HUMAN SLIT and NTRK-like family, member 4 170 integral to membrane autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2) 60 Acute lymphoblastic leukemia(192;6.56e-05) TTATCAGGAAGGAATGAAATC 0.403000 58 30 0 0 1 0 0 COL5A2 1290 broad.mit.edu 37 2 189928722 189928722 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:189928722C>T ENST00000374866.3 - 26 2028 c.1754G>A c.(1753-1755)gGa>gAa p.G585E NM_000393.3 NP_000384.2 P05997 CO5A2_HUMAN collagen, type V, alpha 2 585 axon guidance|collagen fibril organization|eye morphogenesis|skin development collagen type V extracellular matrix structural constituent NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3) 95 OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127) TCCAAGTTTTCCTTCAGGACC 0.333000 15 36 0 0 1 0 0 PEG3 5178 broad.mit.edu 37 19 57328195 57328195 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:57328195C>T ENST00000326441.9 - 10 1978 c.1615G>A c.(1615-1617)Gaa>Aaa p.E539K ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000601070.1_Intron|PEG3_ENST00000593695.1_Missense_Mutation_p.E413K|PEG3_ENST00000598410.1_Missense_Mutation_p.E415K|PEG3_ENST00000423103.2_Missense_Mutation_p.E539K|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000593711.1_Intron NM_006210.2 NP_006201.1 Q9GZU2 PEG3_HUMAN paternally expressed 3 539 apoptosis|viral reproduction cytoplasm|nucleus nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6) 170 Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0269) TCCTCACATTCCTGATTCTTA 0.443000 78 150 0 0 1 0 0 GCH1 2643 broad.mit.edu 37 14 55310786 55310786 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr14:55310786G>A ENST00000491895.2 - 6 890 c.702C>T c.(700-702)ttC>ttT p.F234F GCH1_ENST00000543643.2_Intron|GCH1_ENST00000536224.2_Intron|GCH1_ENST00000395514.1_Silent_p.F234F|GCH1_ENST00000254299.4_5'UTR NM_000161.2 NP_000152.1 P30793 GCH1_HUMAN GTP cyclohydrolase 1 234 F -> S (in DYT5). dopamine biosynthetic process|GTP catabolic process|neuromuscular process controlling posture|nitric oxide biosynthetic process|positive regulation of nitric-oxide synthase activity|protein homooligomerization|response to interferon-gamma|response to lipopolysaccharide|response to pain|response to tumor necrosis factor|tetrahydrobiopterin biosynthetic process|tetrahydrofolate biosynthetic process cytoplasmic vesicle|cytosol|nuclear membrane|protein complex GTP binding|GTP cyclohydrolase I activity|protein homodimerization activity|zinc ion binding endometrium(2)|lung(7)|skin(2) 11 GATCCTCCCGGAACACACCCA 0.478000 49 102 0 0 1 0 0 NLRP9 338321 broad.mit.edu 37 19 56244187 56244187 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:56244187G>A ENST00000332836.2 - 2 1037 c.1010C>T c.(1009-1011)cCc>cTc p.P337L NM_176820.2 NP_789790.2 Q7RTR0 NALP9_HUMAN NLR family, pyrin domain containing 9 337 NACHT. cytoplasm ATP binding NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3) 74 Colorectal(82;0.000133)|Ovarian(87;0.133) GBM - Glioblastoma multiforme(193;0.123) GCACGTAAAGGGATTATGGCA 0.428000 52 132 0 0 1 0 0 SLC6A10P 386757 broad.mit.edu 37 16 32891133 32891133 + RNA SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr16:32891133G>A ENST00000330048.5 - 0 2925 NR_003083.2 TCACCATGGAGAGATCAATGA 0.602000 43 102 0 0 1 0 0 GRM8 2918 broad.mit.edu 37 7 126173816 126173816 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:126173816G>A ENST00000339582.2 - 9 2428 c.1620C>T c.(1618-1620)cgC>cgT p.R540R GRM8_ENST00000358373.3_Silent_p.R540R|GRM8_ENST00000444921.2_Silent_p.R540R|GRM8_ENST00000480995.1_5'UTR O00222 GRM8_HUMAN glutamate receptor, metabotropic 8 540 negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception integral to plasma membrane breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4) 125 Prostate(267;0.186) L-Glutamic Acid(DB00142) AACCTTCACAGCGTTCACAGT 0.562000 HNSCC(24;0.065) 54 155 0 0 1 0 0 FGFR2 2263 broad.mit.edu 37 10 123244973 123244973 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:123244973C>T ENST00000358487.5 - 16 2403 c.2131G>A c.(2131-2133)Gaa>Aaa p.E711K FGFR2_ENST00000357555.5_Missense_Mutation_p.E622K|FGFR2_ENST00000369056.1_Missense_Mutation_p.E712K|FGFR2_ENST00000369061.4_Missense_Mutation_p.E599K|FGFR2_ENST00000360144.3_Missense_Mutation_p.E623K|FGFR2_ENST00000457416.2_Missense_Mutation_p.E712K|FGFR2_ENST00000369060.4_Missense_Mutation_p.E595K|FGFR2_ENST00000351936.6_Missense_Mutation_p.E709K|FGFR2_ENST00000356226.4_Missense_Mutation_p.E594K|FGFR2_ENST00000478859.1_Missense_Mutation_p.E483K|FGFR2_ENST00000346997.2_Missense_Mutation_p.E709K|FGFR2_ENST00000369059.1_Missense_Mutation_p.E597K NM_000141.4 NP_000132.3 P21802 FGFR2_HUMAN fibroblast growth factor receptor 2 711 Protein kinase. angiogenesis|axonogenesis|bone mineralization|bone morphogenesis|branch elongation involved in salivary gland morphogenesis|branching involved in embryonic placenta morphogenesis|branching morphogenesis of a nerve|bud elongation involved in lung branching|cell fate commitment|cell growth|cell-cell signaling|cellular response to protein stimulus|embryonic digestive tract morphogenesis|embryonic pattern specification|epithelial cell proliferation involved in salivary gland morphogenesis|fibroblast growth factor receptor signaling pathway involved in hemopoiesis|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptosis in bone marrow|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow|hair follicle morphogenesis|insulin receptor signaling pathway|lacrimal gland development|lateral sprouting from an epithelium|limb bud formation|lung alveolus development|lung lobe morphogenesis|lung-associated mesenchyme development|mammary gland bud formation|membranous septum morphogenesis|mesenchymal cell differentiation involved in lung development|mesenchymal cell proliferation involved in lung development|midbrain development|multicellular organism growth|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|organ growth|otic vesicle formation|outflow tract septum morphogenesis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell cycle|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of ERK1 and ERK2 cascade|positive regulation of mesenchymal cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis|prostate epithelial cord elongation|pyramidal neuron development|regulation of branching involved in prostate gland morphogenesis|regulation of cell fate commitment|regulation of fibroblast growth factor receptor signaling pathway|regulation of multicellular organism growth|regulation of smooth muscle cell differentiation|regulation of smoothened signaling pathway|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development|ureteric bud development|ventricular cardiac muscle tissue morphogenesis|ventricular zone neuroblast division cell cortex|cell surface|excitatory synapse|extracellular region|integral to membrane|nucleus|plasma membrane ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|heparin binding|protein binding breast(3)|central_nervous_system(3)|cervix(2)|endometrium(98)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|lung(21)|ovary(4)|skin(30)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(2) 181 Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107) STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722) all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845) Palifermin(DB00039) TTAAAAAGTTCCTCCACGGGA 0.537000 5 Mis """gastric. NSCLC, endometrial""" """Crouzon, Pfeiffer, and Apert syndromes""" Saethre-Chotzen syndrome;Apert syndrome 50 98 0 0 1 0 0 USH2A 7399 broad.mit.edu 37 1 215847850 215847850 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:215847850C>T ENST00000366943.2 - 63 13789 c.13403G>A c.(13402-13404)aGa>aAa p.R4468K USH2A_ENST00000307340.3_Missense_Mutation_p.R4468K O75445 USH2A_HUMAN Usher syndrome 2A (autosomal recessive, mild) 4468 Fibronectin type-III 30. maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3) 527 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) ATTTGGGTTTCTTGGAGGTTT 0.458000 HNSCC(13;0.011) 24 211 0 0 1 0 0 RYR3 6263 broad.mit.edu 37 15 34110877 34110877 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr15:34110877G>A ENST00000389232.4 + 76 10768 c.10698G>A c.(10696-10698)acG>acA p.T3566T RYR3_ENST00000415757.3_Silent_p.T3561T NM_001036.3 NP_001027.3 Q15413 RYR3_HUMAN ryanodine receptor 3 3566 cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity p.T3565T(1) NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3) 311 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) ACGCTCTCACGGAGAGGAGGT 0.517000 12 32 0 0 1 0 0 RP1 6101 broad.mit.edu 37 8 55537813 55537813 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:55537813G>A ENST00000220676.1 + 4 1519 c.1371G>A c.(1369-1371)gtG>gtA p.V457V NM_006269.1 NP_006260.1 P56715 RP1_HUMAN retinitis pigmentosa 1 (autosomal dominant) 457 axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment microtubule binding NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2) 169 all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123) OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285) TAAGAAGAGTGAGACAAAAGA 0.418000 40 69 0 0 1 0 0 KLHL2 11275 broad.mit.edu 37 4 166150047 166150047 + Missense_Mutation SNP T T A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:166150047T>A ENST00000226725.6 + 3 500 c.241T>A c.(241-243)Ttt>Att p.F81I KLHL2_ENST00000421009.2_Silent_p.I24I|KLHL2_ENST00000514860.1_Missense_Mutation_p.F85I|KLHL2_ENST00000538127.1_Intron NM_007246.3 NP_009177.3 O95198 KLHL2_HUMAN kelch-like family member 2 81 BTB. intracellular protein transport actin cytoskeleton|cytoplasm actin binding|transporter activity endometrium(3)|large_intestine(5)|lung(4)|prostate(1)|urinary_tract(1) 14 all_hematologic(180;0.221) GBM - Glioblastoma multiforme(119;2.94e-27)|COAD - Colon adenocarcinoma(41;1.4e-05)|Kidney(143;4.95e-05)|KIRC - Kidney renal clear cell carcinoma(143;0.000927) TAGTCCTTATTTTCATGCCAT 0.353000 9 30 0 0 1 0 0 ZNF518B 85460 broad.mit.edu 37 4 10445364 10445364 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:10445364G>A ENST00000326756.3 - 3 3027 c.2589C>T c.(2587-2589)ctC>ctT p.L863L NM_053042.2 NP_444270.2 Q9C0D4 Z518B_HUMAN zinc finger protein 518B 863 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1) 42 GTCCATACAAGAGGCCAGTTT 0.423000 29 83 0 0 1 0 0 FMNL2 114793 broad.mit.edu 37 2 153431746 153431746 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:153431746C>T ENST00000288670.9 + 7 1060 c.693C>T c.(691-693)atC>atT p.I231I NM_052905.3 NP_443137.2 Q96PY5 FMNL2_HUMAN formin-like 2 231 GBD/FH3. actin cytoskeleton organization cytoplasm actin binding|Rho GTPase binding central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(2)|lung(3)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 23 TACGTGCCATCATGAATTATC 0.383000 5 9 0 0 1 0 0 KIAA1549L 25758 broad.mit.edu 37 11 33682434 33682434 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:33682434C>T ENST00000321505.4 + 19 5322 c.5142C>T c.(5140-5142)gcC>gcT p.A1714A KIAA1549L_ENST00000389726.3_Silent_p.A1720A KIAA1549-like CAGTGTTCGCCATCCCAGCTG 0.557000 9 40 0 0 1 0 0 OR2J3 442186 broad.mit.edu 37 6 29080307 29080307 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:29080307C>T ENST00000377169.1 + 1 640 c.640C>T c.(640-642)Ctc>Ttc p.L214F NM_001005216.2 NP_001005216.2 O76001 OR2J3_HUMAN olfactory receptor, family 2, subfamily J, member 3 214 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 24 TCTCATACCTCTCATCCTCAT 0.458000 22 122 0 0 1 0 0 ZNF331 55422 broad.mit.edu 37 19 54074905 54074905 + Missense_Mutation SNP G G T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:54074905G>T ENST00000253144.9 + 6 1390 c.57G>T c.(55-57)gaG>gaT p.E19D ZNF331_ENST00000513999.1_Missense_Mutation_p.E19D|ZNF331_ENST00000513265.1_Missense_Mutation_p.E19D|ZNF331_ENST00000511593.2_Missense_Mutation_p.E19D|ZNF331_ENST00000511154.1_Missense_Mutation_p.E19D|ZNF331_ENST00000411977.2_Missense_Mutation_p.E19D|ZNF331_ENST00000449416.1_Missense_Mutation_p.E19D|ZNF331_ENST00000512387.1_Missense_Mutation_p.E19D NM_001253801.1|NM_018555.5 NP_001240730.1|NP_061025.5 Q9NQX6 ZN331_HUMAN zinc finger protein 331 19 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 10 GBM - Glioblastoma multiforme(134;0.00555) CTCAGGAGGAGTGGGCCTGTC 0.512000 T ? follicular thyroid adenoma 141 260 7.32028e-54 7.41407e-54 1 1 0 PPARGC1A 10891 broad.mit.edu 37 4 23797526 23797526 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:23797526G>A ENST00000264867.2 - 13 2435 c.2316C>T c.(2314-2316)gaC>gaT p.D772D PPARGC1A_ENST00000509702.1_5'UTR NM_013261.3 NP_037393.1 Q9UBK2 PRGC1_HUMAN peroxisome proliferator-activated receptor gamma, coactivator 1 alpha 772 androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mitochondrion organization|mRNA processing|neuron death|positive regulation of fatty acid oxidation|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|RNA splicing|temperature homeostasis|transcription initiation from RNA polymerase II promoter DNA-directed RNA polymerase II, core complex androgen receptor binding|DNA binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|RNA binding|RNA polymerase II transcription cofactor activity|transcription factor binding central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5) 51 Breast(46;0.0503) TGGAAGCAGGGTCAAAGTCAT 0.403000 38 71 0 0 1 0 0 RTL1 388015 broad.mit.edu 37 14 101350957 101350957 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr14:101350957C>T ENST00000534062.1 - 1 227 c.169G>A c.(169-171)Gag>Aag p.E57K NM_001134888.2 NP_001128360.1 E9PKS8 E9PKS8_HUMAN retrotransposon-like 1 57 breast(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(5)|pancreas(1)|prostate(2)|skin(2) 21 CTGGGGGGCTCCTTCTTTTCC 0.632000 27 40 0 0 1 0 0 SLC7A2 6542 broad.mit.edu 37 8 17406340 17406340 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:17406340C>T ENST00000470360.1 + 6 923 c.806C>T c.(805-807)tCa>tTa p.S269L SLC7A2_ENST00000494857.1_Missense_Mutation_p.S229L|SLC7A2_ENST00000004531.10_Missense_Mutation_p.S269L|SLC7A2_ENST00000398090.3_Missense_Mutation_p.S269L|SLC7A2_ENST00000522656.1_Missense_Mutation_p.S229L P52569 CTR2_HUMAN solute carrier family 7 (cationic amino acid transporter, y+ system), member 2 229 cellular amino acid metabolic process|ion transport cytoplasm|integral to plasma membrane|membrane fraction basic amino acid transmembrane transporter activity breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1) 25 Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216) L-Lysine(DB00123)|L-Ornithine(DB00129) AAAAATATATCAGCAAGTGCC 0.328000 12 96 0 0 1 0 0 SPTLC3 55304 broad.mit.edu 37 20 13071798 13071798 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr20:13071798G>A ENST00000399002.2 + 5 949 c.675G>A c.(673-675)atG>atA p.M225I SPTLC3_ENST00000378194.4_Missense_Mutation_p.M225I NM_018327.2 NP_060797.2 Q9NUV7 SPTC3_HUMAN serine palmitoyltransferase, long chain base subunit 3 225 sphingoid biosynthetic process integral to membrane|serine C-palmitoyltransferase complex pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups p.M225I(1) breast(1)|endometrium(1)|large_intestine(7)|lung(14)|skin(1)|urinary_tract(1) 25 Pyridoxal Phosphate(DB00114) AAGCAGCTATGGTCTTTGGGA 0.423000 47 111 0 0 1 0 0 CATSPERB 79820 broad.mit.edu 37 14 92191496 92191496 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr14:92191496G>A ENST00000256343.3 - 3 252 c.96C>T c.(94-96)cgC>cgT p.R32R NM_024764.2 NP_079040.2 Q9H7T0 CTSRB_HUMAN catsper channel auxiliary subunit beta 32 cell differentiation|multicellular organismal development|spermatogenesis integral to membrane NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2) 54 all_cancers(154;0.0663)|all_epithelial(191;0.236) AACATGCAAAGCGTTTCTCTG 0.299000 17 34 0 0 1 0 0 DOPEY2 9980 broad.mit.edu 37 21 37586432 37586432 + Missense_Mutation SNP T T G TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr21:37586432T>G ENST00000399151.3 + 8 1043 c.958T>G c.(958-960)Tat>Gat p.Y320D NM_005128.2 NP_005119.2 Q9Y3R5 DOP2_HUMAN dopey family member 2 320 endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport Golgi membrane autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 CTCAAATTCTTATGAAGACCA 0.393000 16 155 0 0 1 0 0 RTCA 8634 broad.mit.edu 37 1 100741244 100741244 + Silent SNP T T A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:100741244T>A ENST00000370128.4 + 7 874 c.705T>A c.(703-705)ccT>ccA p.P235P RTCA_ENST00000260563.4_Silent_p.P248P NM_003729.3 NP_003720.1 O00442 RTC1_HUMAN RNA 3'-terminal phosphate cyclase 235 RNA processing mitochondrion|nucleoplasm ATP binding|protein binding|RNA binding|RNA-3'-phosphate cyclase activity TTCAAGAACCTAAAGACCAAG 0.363000 45 87 0 0 1 0 0 PXDNL 137902 broad.mit.edu 37 8 52384783 52384783 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:52384783C>T ENST00000356297.4 - 8 876 c.776G>A c.(775-777)gGa>gAa p.G259E PXDNL_ENST00000543296.1_Missense_Mutation_p.G259E NM_144651.4 NP_653252.3 A1KZ92 PXDNL_HUMAN peroxidasin homolog (Drosophila)-like 259 Ig-like C2-type 1. hydrogen peroxide catabolic process extracellular space heme binding|peroxidase activity NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 48 all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015) TTTGGGGTTTCCTTCCGCCCG 0.443000 6 135 0 0 1 0 0 ZNF391 346157 broad.mit.edu 37 6 27368871 27368871 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:27368871G>A ENST00000244576.4 + 3 1267 c.722G>A c.(721-723)cGa>cAa p.R241Q NM_001076781.1 NP_001070249.1 Q9UJN7 ZN391_HUMAN zinc finger protein 391 241 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|large_intestine(6)|lung(7)|pancreas(2)|skin(3)|upper_aerodigestive_tract(1) 21 CAGCATCAACGAATACACACT 0.433000 32 63 0 0 1 0 0 MSLNL 401827 broad.mit.edu 37 16 824434 824434 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr16:824434G>A ENST00000293892.3 - 8 1806 c.1807C>T c.(1807-1809)Ctg>Ttg p.L603L MSLNL_ENST00000442466.1_Silent_p.L252L Q96KJ4 MSLNL_HUMAN mesothelin-like 252 cell adhesion integral to membrane breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(15)|ovary(2)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2) 36 TGCGCCCACAGGTGAGGGCTG 0.711000 12 8 0 0 1 0 0 LIPN 643418 broad.mit.edu 37 10 90537765 90537765 + Splice_Site SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:90537765G>A ENST00000404459.1 + 9 963 c.e9-1 NM_001102469.1 NP_001095939.1 Q5VXI9 LIPN_HUMAN lipase, family member N lipid catabolic process extracellular region hydrolase activity endometrium(1)|kidney(1)|large_intestine(5)|lung(1)|skin(1) 9 Colorectal(252;0.0161) Colorectal(12;4.83e-05)|COAD - Colon adenocarcinoma(12;6.5e-05) CTCTCCCACAGAGTCATCCCC 0.483000 14 41 0 0 1 0 0 WDR64 128025 broad.mit.edu 37 1 241920715 241920715 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:241920715C>T ENST00000366552.2 + 14 2078 c.1871C>T c.(1870-1872)cCa>cTa p.P624L WDR64_ENST00000437684.2_Missense_Mutation_p.P624L NM_144625.4 NP_653226.4 B1ANS9 WDR64_HUMAN WD repeat domain 64 624 breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(17)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 Ovarian(103;0.103) all_cancers(173;0.0121) OV - Ovarian serous cystadenocarcinoma(106;0.0116) ATTCCTTTCCCAGATGTCGAG 0.403000 38 97 0 0 1 0 0 VSTM4 196740 broad.mit.edu 37 10 50315896 50315896 + Missense_Mutation SNP G G A rs139444035 byFrequency TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:50315896G>A ENST00000332853.3 - 2 223 c.200C>T c.(199-201)tCc>tTc p.S67F VSTM4_ENST00000298454.3_Missense_Mutation_p.S67F NM_001031746.3 NP_001026916.2 Q8IW00 CJ072_HUMAN V-set and transmembrane domain containing 4 67 Ig-like. integral to membrane|plasma membrane breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|skin(2) 31 GGAGTCGAAGGAGTGTGCAAA 0.602000 17 68 0 0 1 0 0 PSG7 5676 broad.mit.edu 37 19 43428934 43428934 + RNA SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:43428934G>A ENST00000406070.2 - 0 1382 NM_002783.2 NP_002774.2 Q13046 PSG7_HUMAN pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene) female pregnancy extracellular region Prostate(69;0.00682) catgggagaagatggaattgg 0.408000 14 66 0 0 1 0 0 SLC13A2 9058 broad.mit.edu 37 17 26818772 26818772 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:26818772G>A ENST00000444914.3 + 6 1347 c.927G>A c.(925-927)gtG>gtA p.V309V SLC13A2_ENST00000545060.1_Silent_p.V217V|SLC13A2_ENST00000314669.5_Silent_p.V260V|SLC13A2_ENST00000537681.1_Silent_p.V189V NM_001145975.1 NP_001139447.1 Q13183 S13A2_HUMAN solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 2 260 integral to plasma membrane|membrane fraction low affinity sodium:dicarboxylate symporter activity breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 all_lung(13;0.000871)|Lung NSC(42;0.0027) UCEC - Uterine corpus endometrioid carcinoma (53;0.154) Succinic acid(DB00139) ACGGCAACGTGGTGAACTTCG 0.587000 40 78 0 0 1 0 0 MGAT4C 25834 broad.mit.edu 37 12 86373156 86373156 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:86373156G>A ENST00000604798.1 - 8 2552 c.1348C>T c.(1348-1350)Cca>Tca p.P450S MGAT4C_ENST00000549405.2_Missense_Mutation_p.P450S|MGAT4C_ENST00000552808.2_Missense_Mutation_p.P450S|MGAT4C_ENST00000332156.1_Missense_Mutation_p.P450S|MGAT4C_ENST00000548651.1_Missense_Mutation_p.P450S|MGAT4C_ENST00000393205.2_Missense_Mutation_p.P479S Q9UBM8 MGT4C_HUMAN mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme C (putative) 450 post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 41 ATATCAAATGGAATTTTTTGA 0.318000 6 55 0 0 1 0 0 BAZ2B 29994 broad.mit.edu 37 2 160206848 160206848 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:160206848C>T ENST00000392783.2 - 28 4729 c.4234G>A c.(4234-4236)Gaa>Aaa p.E1412K BAZ2B_ENST00000392782.1_Missense_Mutation_p.E1376K|BAZ2B_ENST00000355831.2_Missense_Mutation_p.E1378K|BAZ2B_ENST00000343439.5_Missense_Mutation_p.E1312K NM_013450.2 NP_038478.2 Q9UIF8 BAZ2B_HUMAN bromodomain adjacent to zinc finger domain, 2B 1412 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1) 82 TTTTCTCTTTCTTTTGCAATT 0.318000 5 20 0 0 1 0 0 DCHS2 54798 broad.mit.edu 37 4 155163820 155163820 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:155163820G>A ENST00000357232.3 - 22 5680 c.5681C>T c.(5680-5682)cCc>cTc p.P1894L NM_017639.3 NP_060109.2 Q6V1P9 PCD23_HUMAN dachsous cadherin-related 2 1894 Cadherin 17. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 176 all_hematologic(180;0.208) Renal(120;0.0854) LUSC - Lung squamous cell carcinoma(193;0.107) TGCTTCAGAGGGGAGAAAAGC 0.393000 38 91 0 0 1 0 0 OR6N2 81442 broad.mit.edu 37 1 158746625 158746625 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:158746625G>A ENST00000339258.1 - 1 800 c.801C>T c.(799-801)tcC>tcT p.S267S NM_001005278.1 NP_001005278.1 Q8NGY6 OR6N2_HUMAN olfactory receptor, family 6, subfamily N, member 2 267 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|large_intestine(6)|lung(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 all_hematologic(112;0.0378) CAAGGGTCAGGGAATAGCTCT 0.428000 28 111 0 0 1 0 0 TRIM51 84767 broad.mit.edu 37 11 55658717 55658717 + Missense_Mutation SNP G G A rs138042923 by1000genomes TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:55658717G>A ENST00000449290.2 + 7 1060 c.968G>A c.(967-969)gGa>gAa p.G323E TRIM51_ENST00000244891.3_Missense_Mutation_p.G180E NM_032681.3 NP_116070.2 Q9BSJ1 SPRY5_HUMAN tripartite motif-containing 51 323 B30.2/SPRY. intracellular zinc ion binding p.G323A(1)|p.G164A(1) GATATCACTGGAAAATCTGAA 0.443000 62 130 0 0 1 0 0 ALOX12 239 broad.mit.edu 37 17 6902626 6902626 + Splice_Site SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:6902626G>A ENST00000251535.6 + 6 701 c.646_splice c.e6-1 p.E216_splice AC027763.2_ENST00000399541.2_Intron|RP11-589P10.7_ENST00000572547.1_RNA|AC027763.2_ENST00000574377.1_3'UTR NM_000697.2 NP_000688.2 P18054 LOX12_HUMAN arachidonate 12-lipoxygenase 216 Lipoxygenase. anti-apoptosis|cellular component movement|fatty acid oxidation|leukotriene biosynthetic process|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of cell proliferation|superoxide anion generation cytosol|sarcolemma arachidonate 12-lipoxygenase activity|hepoxilin-epoxide hydrolase activity|iron ion binding|lipoxygenase activity|protein binding breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)|urinary_tract(1) 19 CCACCAAAGAGAAGGTTCGCC 0.532000 25 44 0 0 1 0 0 PTPN13 5783 broad.mit.edu 37 4 87684072 87684072 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:87684072C>T ENST00000436978.1 + 24 4226 c.3746C>T c.(3745-3747)tCc>tTc p.S1249F PTPN13_ENST00000511467.1_Missense_Mutation_p.S1249F|PTPN13_ENST00000316707.6_Missense_Mutation_p.S1058F|PTPN13_ENST00000427191.2_Missense_Mutation_p.S1230F|PTPN13_ENST00000411767.2_Missense_Mutation_p.S1249F NM_080683.2|NM_080685.2 NP_542414.1|NP_542416.1 Q12923 PTN13_HUMAN protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase) 1249 cytoplasm|cytoskeleton|plasma membrane protein binding|protein tyrosine phosphatase activity NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2) 93 Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242) OV - Ovarian serous cystadenocarcinoma(123;0.00082) TCTCAAGATTCCAGGACTGAG 0.552000 30 48 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179452849 179452849 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:179452849C>T ENST00000589042.1 - 305 63509 c.63285G>A c.(63283-63285)ccG>ccA p.P21095P TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000359218.5_Silent_p.P12155P|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Silent_p.P19454P|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Silent_p.P18527P|TTN_ENST00000460472.2_Silent_p.P12030P|TTN_ENST00000342175.6_Silent_p.P12222P|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000419746.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 19454 Fibronectin type-III 52. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) ATCCAATGATCGGTGCACCAC 0.478000 18 40 0 0 1 0 0 COL7A1 1294 broad.mit.edu 37 3 48612532 48612532 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:48612532C>T ENST00000328333.8 - 75 6351 c.6244G>A c.(6244-6246)Gga>Aga p.G2082R COL7A1_ENST00000454817.1_Missense_Mutation_p.G2050R NM_000094.3 NP_000085.1 Q02388 CO7A1_HUMAN collagen, type VII, alpha 1 2082 Triple-helical region. cell adhesion|epidermis development basement membrane|collagen type VII protein binding|serine-type endopeptidase inhibitor activity NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5) 137 BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) CCAGGGGTTCCAGGGAGTCCA 0.647000 25 94 0 0 1 0 0 DDX39A 10212 broad.mit.edu 37 19 14522340 14522340 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:14522340G>A ENST00000242776.4 - 4 508 c.407C>T c.(406-408)tCc>tTc p.S136F DDX39A_ENST00000454233.2_Missense_Mutation_p.S136F|DDX39A_ENST00000592927.1_5'UTR NM_005804.3 NP_005795.2 O00148 DX39A_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 39A 136 Helicase ATP-binding. mRNA export from nucleus|nuclear mRNA splicing, via spliceosome nucleus ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding NS(1)|endometrium(5)|kidney(1)|lung(2)|ovary(1)|pancreas(1) 11 CATGTACTTGGAAAAGCGCTC 0.587000 36 64 0 0 1 0 0 FLG2 388698 broad.mit.edu 37 1 152324635 152324635 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:152324635C>T ENST00000388718.5 - 3 5699 c.5627G>A c.(5626-5628)aGg>aAg p.R1876K FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA NM_001014342.2 NP_001014364.1 Q5D862 FILA2_HUMAN filaggrin family member 2 1876 calcium ion binding|structural molecule activity p.R1876M(1) NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 188 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GCCAGATCTCCTTCTTCCAGT 0.507000 27 458 0 0 1 0 0 TMPRSS11D 9407 broad.mit.edu 37 4 68699048 68699048 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:68699048C>T ENST00000283916.6 - 7 664 c.566G>A c.(565-567)gGa>gAa p.G189E RP11-453E17.1_ENST00000500538.2_RNA|TMPRSS11D_ENST00000509584.1_5'UTR|TMPRSS11D_ENST00000545541.1_Missense_Mutation_p.G72E NM_004262.2 NP_004253.1 O60235 TM11D_HUMAN transmembrane protease, serine 11D 189 Peptidase S1. proteolysis|respiratory gaseous exchange extracellular region|integral to plasma membrane serine-type endopeptidase activity cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 23 CTCAGTGCCTCCAAGGATTCT 0.507000 9 243 0 0 1 0 0 TBC1D22B 55633 broad.mit.edu 37 6 37247122 37247122 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:37247122G>A ENST00000373491.3 + 3 302 c.156G>A c.(154-156)aaG>aaA p.K52K NM_017772.2 NP_060242.2 Q9NU19 TB22B_HUMAN TBC1 domain family, member 22B 52 intracellular Rab GTPase activator activity breast(1)|endometrium(1)|large_intestine(2)|lung(10)|prostate(1) 15 OV - Ovarian serous cystadenocarcinoma(102;0.241) TTCCTCTGAAGAATAAGAAGG 0.438000 58 179 0 0 1 0 0 BFSP2 8419 broad.mit.edu 37 3 133191275 133191275 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:133191275G>A ENST00000302334.2 + 6 1199 c.1110G>A c.(1108-1110)ctG>ctA p.L370L BFSP2_ENST00000511434.1_3'UTR NM_003571.2 NP_003562.1 Q13515 BFSP2_HUMAN beaded filament structural protein 2, phakinin 370 Rod. response to stimulus|visual perception cytoplasm|intermediate filament|membrane structural constituent of cytoskeleton|structural constituent of eye lens NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|urinary_tract(1) 13 TCGGCCGGCTGGAGGCGGAGC 0.637000 20 58 0 0 1 0 0 CCDC28A 25901 broad.mit.edu 37 6 139094890 139094890 + Missense_Mutation SNP C C T rs143573686 TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:139094890C>T ENST00000332797.6 + 1 234 c.79C>T c.(79-81)Ctc>Ttc p.L27F NM_015439.2 NP_056254.1 Q8IWP9 CC28A_HUMAN coiled-coil domain containing 28A 27 autonomic_ganglia(1)|large_intestine(3)|lung(8)|ovary(1) 13 OV - Ovarian serous cystadenocarcinoma(155;0.000201)|GBM - Glioblastoma multiforme(68;0.000306) GAGGCTGTACCTCTTACGTCA 0.632000 98 186 0 0 1 0 0 ZNF438 220929 broad.mit.edu 37 10 31137980 31137980 + Missense_Mutation SNP A A C TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:31137980A>C ENST00000538351.1 - 7 1961 c.1207T>G c.(1207-1209)Tct>Gct p.S403A ZNF438_ENST00000452305.1_Missense_Mutation_p.S442A|ZNF438_ENST00000444692.2_Missense_Mutation_p.S442A|ZNF438_ENST00000375311.1_Missense_Mutation_p.S16A|ZNF438_ENST00000361310.3_Missense_Mutation_p.S452A|ZNF438_ENST00000436087.2_Missense_Mutation_p.S452A|ZNF438_ENST00000442986.1_Missense_Mutation_p.S452A|ZNF438_ENST00000413025.1_Missense_Mutation_p.S452A|ZNF438_ENST00000331737.6_Missense_Mutation_p.S442A NM_001143769.1 NP_001137241.1 Q7Z4V0 ZN438_HUMAN zinc finger protein 438 452 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(15)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 Prostate(175;0.0587) GTAGTTGGAGAAGCCAGGGAG 0.458000 6 101 0 0 1 0 0 WNT2 7472 broad.mit.edu 37 7 116960654 116960654 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:116960654C>T ENST00000265441.3 - 2 576 c.277G>A c.(277-279)Gat>Aat p.D93N AC002465.2_ENST00000436097.1_RNA NM_003391.2 NP_003382.1 P09544 WNT2_HUMAN wingless-type MMTV integration site family member 2 93 atrial cardiac muscle tissue morphogenesis|canonical Wnt receptor signaling pathway|cardiac epithelial to mesenchymal transition|cellular response to retinoic acid|cellular response to transforming growth factor beta stimulus|dorsal/ventral axis specification|iris morphogenesis|labyrinthine layer blood vessel development|lens development in camera-type eye|lung induction|mammary gland epithelium development|neuron differentiation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of fibroblast proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|Wnt receptor signaling pathway, calcium modulating pathway cytoplasm|extracellular space|proteinaceous extracellular matrix cytokine activity|frizzled binding|frizzled-2 binding|signal transducer activity breast(2)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|ovary(3)|prostate(1)|skin(2) 31 all_epithelial(6;2.24e-06)|Lung NSC(10;0.000936)|all_lung(10;0.00109) STAD - Stomach adenocarcinoma(10;0.000512) LUSC - Lung squamous cell carcinoma(290;0.133) AGGCTGTGATCCCTGTCCAGG 0.582000 22 40 0 0 1 0 0 OR2T1 26696 broad.mit.edu 37 1 248569724 248569724 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:248569724C>T ENST00000366474.1 + 1 429 c.429C>T c.(427-429)tcC>tcT p.S143S NM_030904.1 NP_112166.1 O43869 OR2T1_HUMAN olfactory receptor, family 2, subfamily T, member 1 143 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 39 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) GGACCATTTCCTTTGTGGGGT 0.473000 151 96 0 0 1 0 0 PDZRN4 29951 broad.mit.edu 37 12 41949548 41949548 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:41949548G>A ENST00000298919.7 + 7 959 c.571G>A c.(571-573)Gat>Aat p.D191N PDZRN4_ENST00000402685.2_Missense_Mutation_p.D451N|PDZRN4_ENST00000539469.2_Missense_Mutation_p.D193N Q6ZMN7 PZRN4_HUMAN PDZ domain containing ring finger 4 451 ubiquitin-protein ligase activity|zinc ion binding breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 77 all_cancers(12;0.000673) Lung NSC(34;0.0205)|all_lung(34;0.0264) TCGAGAAGGGGATCGGATTTT 0.408000 49 84 0 0 1 0 0 MAPK4 5596 broad.mit.edu 37 18 48190589 48190589 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr18:48190589G>A ENST00000400384.2 + 2 1297 c.261G>A c.(259-261)aaG>aaA p.K87K MAPK4_ENST00000588540.1_Silent_p.K87K|MAPK4_ENST00000592595.1_Silent_p.K87K|MAPK4_ENST00000540640.1_Intron NM_002747.3 NP_002738.2 P31152 MK04_HUMAN mitogen-activated protein kinase 4 87 Protein kinase. cell cycle ATP binding|MAP kinase activity lung(4)|skin(3)|upper_aerodigestive_tract(1) 8 Colorectal(6;0.0297) Colorectal(21;0.156) TCGGTCCCAAGGGCACTGACC 0.612000 22 60 0 0 1 0 0 CBLN2 147381 broad.mit.edu 37 18 70205419 70205419 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr18:70205419G>A ENST00000269503.4 - 5 1440 c.667C>T c.(667-669)Cct>Tct p.P223S CBLN2_ENST00000584764.1_Missense_Mutation_p.P107S|CBLN2_ENST00000583651.1_5'UTR|CBLN2_ENST00000585159.1_Missense_Mutation_p.P223S|CBLN2_ENST00000581073.1_Missense_Mutation_p.P109S NM_182511.3 NP_872317.1 Q8IUK8 CBLN2_HUMAN cerebellin 2 precursor 223 C1q. integral to membrane endometrium(2)|lung(15) 17 Esophageal squamous(42;0.131) GTTTATAGAGGAAACACCAAG 0.507000 48 87 0 0 1 0 0 TRIM51HP 440041 broad.mit.edu 37 11 55065577 55065577 + RNA SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:55065577C>T ENST00000526016.1 - 0 131 NR_038174.2 CATGTTGTCTCCTTGCATTTA 0.493000 22 31 0 0 1 0 0 SP140L 93349 broad.mit.edu 37 2 231248236 231248236 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:231248236G>A ENST00000243810.6 + 8 649 c.649G>A c.(649-651)Ggg>Agg p.G217R SP140L_ENST00000415673.2_Missense_Mutation_p.G217R|SP140L_ENST00000396563.4_Missense_Mutation_p.G217R|SP140L_ENST00000444636.1_Missense_Mutation_p.G217R Q9H930 LY10L_HUMAN SP140 nuclear body protein-like 217 nucleus DNA binding|metal ion binding central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|skin(1) 20 AAAAAAGAAGGGGCATGGCTG 0.338000 6 25 0 0 1 0 0 HDAC9 9734 broad.mit.edu 37 7 18688140 18688140 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:18688140C>T ENST00000406451.3 + 11 1442 c.1292C>T c.(1291-1293)tCa>tTa p.S431L HDAC9_ENST00000405010.3_Missense_Mutation_p.S431L|HDAC9_ENST00000401921.1_Missense_Mutation_p.S390L|HDAC9_ENST00000441542.2_Missense_Mutation_p.S434L|HDAC9_ENST00000456174.2_Missense_Mutation_p.S403L|HDAC9_ENST00000432645.2_Missense_Mutation_p.S431L|HDAC9_ENST00000428307.2_Missense_Mutation_p.S387L|HDAC9_ENST00000417496.2_Missense_Mutation_p.S429L|HDAC9_ENST00000524023.1_Missense_Mutation_p.S354L|HDAC9_ENST00000406072.1_Missense_Mutation_p.S418L NM_178423.1|NM_178425.2 NP_848510.1|NP_848512.1 Q9UKV0 HDAC9_HUMAN histone deacetylase 9 431 B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 82 all_lung(11;0.187) Valproic Acid(DB00313) GAGAGAATTTCACCTGGCATT 0.473000 39 78 0 0 1 0 0 STK33 65975 broad.mit.edu 37 11 8494753 8494753 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:8494753C>T ENST00000447869.1 - 2 1214 c.296G>A c.(295-297)gGa>gAa p.G99E STK33_ENST00000534493.1_Missense_Mutation_p.G58E|STK33_ENST00000315204.1_Missense_Mutation_p.G99E|STK33_ENST00000358872.3_Intron|STK33_ENST00000396672.1_Missense_Mutation_p.G99E|STK33_ENST00000396673.1_Missense_Mutation_p.G99E Q9BYT3 STK33_HUMAN serine/threonine kinase 33 99 Golgi apparatus|nucleus|perinuclear region of cytoplasm ATP binding|protein serine/threonine kinase activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|skin(3) 23 Epithelial(150;2.13e-06)|BRCA - Breast invasive adenocarcinoma(625;0.239) AGGAACTTTTCCTTCTGTAAA 0.383000 43 83 0 0 1 0 0 DNMT3B 1789 broad.mit.edu 37 20 31395581 31395581 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr20:31395581C>T ENST00000328111.2 + 23 2755 c.2434C>T c.(2434-2436)Cct>Tct p.P812S DNMT3B_ENST00000456297.2_Missense_Mutation_p.P653S|DNMT3B_ENST00000201963.3_Missense_Mutation_p.P804S|DNMT3B_ENST00000443239.3_Missense_Mutation_p.P687S|DNMT3B_ENST00000348286.2_Missense_Mutation_p.P729S|DNMT3B_ENST00000353855.2_Missense_Mutation_p.P792S|DNMT3B_ENST00000344505.4_Missense_Mutation_p.S752F NM_006892.3 NP_008823.1 Q9UBC3 DNM3B_HUMAN DNA (cytosine-5-)-methyltransferase 3 beta 812 negative regulation of histone H3-K9 methylation|positive regulation of gene expression|positive regulation of histone H3-K4 methylation metal ion binding|protein binding|transcription corepressor activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 CTTTGGCTTTCCTGTGCACTA 0.592000 19 245 0 0 1 0 0 ARID1A 8289 broad.mit.edu 37 1 27092825 27092825 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:27092825C>T ENST00000324856.7 + 9 3217 c.2846C>T c.(2845-2847)tCc>tTc p.S949F ARID1A_ENST00000457599.2_Missense_Mutation_p.S949F|ARID1A_ENST00000374152.2_Missense_Mutation_p.S566F NM_006015.4 NP_006006.3 O14497 ARI1A_HUMAN AT rich interactive domain 1A (SWI-like) 949 androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent nBAF complex|npBAF complex|SWI/SNF complex DNA binding|protein binding ARID1A/MAST2_ENST00000361297(2) NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24) 411 all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242) CCCCCATATTCCATGGGTGGA 0.473000 """Mis, N, F, S, D""" """clear cell ovarian carcinoma, RCC""" 6 170 0 0 1 0 0 EXTL1 2134 broad.mit.edu 37 1 26357637 26357637 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:26357637G>A ENST00000374280.3 + 5 1983 c.1116G>A c.(1114-1116)cgG>cgA p.R372R EXTL1_ENST00000484339.1_3'UTR NM_004455.2 NP_004446.2 Q92935 EXTL1_HUMAN exostosin-like glycosyltransferase 1 372 skeletal system development integral to membrane|intrinsic to endoplasmic reticulum membrane glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|protein binding central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|stomach(1)|urinary_tract(1) 23 Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00594)|READ - Rectum adenocarcinoma(331;0.0649) TTCAGGACCGGATTTTTGGAA 0.587000 10 162 0 0 1 0 0 SLC35F4 341880 broad.mit.edu 37 14 58063511 58063511 + Missense_Mutation SNP C C A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr14:58063511C>A ENST00000339762.6 - 1 104 c.105G>T c.(103-105)tgG>tgT p.W35C SLC35F4_ENST00000557430.1_Intron|SLC35F4_ENST00000554729.1_Intron|SLC35F4_ENST00000556826.1_Intron solute carrier family 35, member F4 breast(1)|endometrium(4)|large_intestine(3)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 GTCCTGGCTTCCATACCTCCT 0.438000 4 56 2.56e-06 2.5696e-06 1 1 0 CCDC15 80071 broad.mit.edu 37 11 124908375 124908375 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:124908375C>T ENST00000529051.1 + 14 2719 c.2460C>T c.(2458-2460)atC>atT p.I820I CCDC15_ENST00000530061.1_3'UTR|CCDC15_ENST00000344762.5_Silent_p.I820I Q0P6D6 CCD15_HUMAN coiled-coil domain containing 15 820 centrosome central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(1) 23 all_hematologic(175;0.215) Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.68e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0413) AGCAGAGGATCCTAAGAATGA 0.313000 3 6 0 0 1 0 0 MYH7 4625 broad.mit.edu 37 14 23894089 23894089 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr14:23894089G>A ENST00000355349.3 - 22 2730 c.2568C>T c.(2566-2568)ttC>ttT p.F856F NM_000257.2 NP_000248.2 P12883 MYH7_HUMAN myosin, heavy chain 7, cardiac muscle, beta 856 adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 137 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00725) TGAGGCGTGTGAACTCCTCCT 0.557000 54 96 0 0 1 0 0 FBL 2091 broad.mit.edu 37 19 40331145 40331145 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:40331145G>A ENST00000221801.3 - 3 305 c.192C>T c.(190-192)ttC>ttT p.F64F NM_001436.3 NP_001427.2 P22087 FBRL_HUMAN fibrillarin 64 DMA/Gly-rich. rRNA processing|tRNA processing box C/D snoRNP complex|Cajal body methyltransferase activity|protein binding|RNA binding endometrium(1)|kidney(1)|large_intestine(4)|lung(2)|ovary(1) 9 all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06) Renal(1328;0.000518)|Hepatocellular(1079;0.0893) Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23) GBM - Glioblastoma multiforme(1328;0.000826)|STAD - Stomach adenocarcinoma(1328;0.138) CACCAGAATGGAAGCCTCCAC 0.572000 33 273 0 0 1 0 0 SLC8A3 6547 broad.mit.edu 37 14 70633595 70633595 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr14:70633595G>A ENST00000381269.2 - 2 2298 c.1545C>T c.(1543-1545)tcC>tcT p.S515S SLC8A3_ENST00000357887.3_Silent_p.S515S|SLC8A3_ENST00000356921.2_Silent_p.S515S|SLC8A3_ENST00000528359.1_Silent_p.S515S|SLC8A3_ENST00000534137.1_Silent_p.S515S NM_058240.2|NM_183002.1 NP_489479.1|NP_892114.1 P57103 NAC3_HUMAN solute carrier family 8 (sodium/calcium exchanger), member 3 515 cell communication|platelet activation integral to membrane|plasma membrane calcium:sodium antiporter activity|calmodulin binding NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6) 54 BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555) CCACACAAGGGGAGGCTAGGA 0.498000 33 65 0 0 1 0 0 MGAM 8972 broad.mit.edu 37 7 141794574 141794574 + Nonsense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:141794574C>T ENST00000475668.2 + 63 7423 c.7369C>T c.(7369-7371)Caa>Taa p.Q2457* MGAM_ENST00000549489.2_Nonsense_Mutation_p.Q1561* O43451 MGA_HUMAN maltase-glucoamylase (alpha-glucosidase) 1561 polysaccharide digestion|starch catabolic process apical plasma membrane|integral to membrane carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2) 13 Melanoma(164;0.0272) Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878) TGGGTTCTTTCAAGATGCTGA 0.483000 22 112 0 0 1 0 0 LDB3 11155 broad.mit.edu 37 10 88477793 88477793 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:88477793C>T ENST00000429277.2 + 11 1909 c.1764C>T c.(1762-1764)tcC>tcT p.S588S LDB3_ENST00000458213.2_Silent_p.S473S|LDB3_ENST00000263066.6_Silent_p.S473S|LDB3_ENST00000361373.4_Silent_p.S583S|LDB3_ENST00000352360.5_Silent_p.S326S NM_001171610.1 NP_001165081.1 O75112 LDB3_HUMAN LIM domain binding 3 583 LIM zinc-binding 1. cytoskeleton|perinuclear region of cytoplasm|pseudopodium zinc ion binding breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|soft_tissue(1) 25 GCAAGACTTCCCTGGCAGATG 0.527000 6 141 0 0 1 0 0 FAM151A 338094 broad.mit.edu 37 1 55078376 55078376 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:55078376C>T ENST00000302250.2 - 5 743 c.583G>A c.(583-585)Gcc>Acc p.A195T ACOT11_ENST00000371316.3_Intron|FAM151A_ENST00000371304.2_Missense_Mutation_p.A195T NM_176782.2 NP_788954.2 Q8WW52 F151A_HUMAN family with sequence similarity 151, member A 195 integral to membrane breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1) 12 TGGACCAGGGCCAGGAACCTG 0.572000 29 53 0 0 1 0 0 DMWD 1762 broad.mit.edu 37 19 46287538 46287538 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:46287538G>A ENST00000270223.6 - 5 2033 c.1988C>T c.(1987-1989)tCc>tTc p.S663F AC011530.4_ENST00000593999.1_Intron|DMWD_ENST00000377735.3_Missense_Mutation_p.S638F NM_004943.1 NP_004934.1 Q09019 DMWD_HUMAN dystrophia myotonica, WD repeat containing 663 meiosis central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1) 16 Ovarian(192;0.0308)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.00604)|GBM - Glioblastoma multiforme(486;0.0807)|Epithelial(262;0.236) GCCTGGTTGGGAGGAGATGCC 0.642000 36 63 0 0 1 0 0 BMPR2 659 broad.mit.edu 37 2 203420465 203420465 + Missense_Mutation SNP T T C TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:203420465T>C ENST00000374580.4 + 12 2616 c.2077T>C c.(2077-2079)Ttc>Ctc p.F693L BMPR2_ENST00000374574.2_Intron NM_001204.6 NP_001195.2 Q13873 BMPR2_HUMAN bone morphogenetic protein receptor, type II (serine/threonine kinase) 693 anterior/posterior pattern formation|BMP signaling pathway|cellular response to starvation|lung alveolus development|mesoderm formation|negative regulation of cell growth|negative regulation of systemic arterial blood pressure|negative regulation of vasoconstriction|positive regulation of BMP signaling pathway|positive regulation of bone mineralization|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of epithelial cell migration|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|regulation of lung blood pressure|transcription from RNA polymerase II promoter|vascular endothelial growth factor receptor signaling pathway integral to plasma membrane ATP binding|metal ion binding|transforming growth factor beta receptor activity autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(11)|lung(7)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2) 42 TCTTAAACAGTTCAGTGGCCC 0.448000 7 116 0 0 1 0 0 FAM171A1 221061 broad.mit.edu 37 10 15290666 15290666 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:15290666G>A ENST00000378116.4 - 5 732 c.726C>T c.(724-726)gtC>gtT p.V242V FAM171A1_ENST00000477161.1_5'UTR NM_001010924.1 NP_001010924.1 Q5VUB5 F1711_HUMAN family with sequence similarity 171, member A1 242 integral to membrane breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 52 GCCACGCCGCGACATAGGCAT 0.552000 48 106 0 0 1 0 0 AMBN 258 broad.mit.edu 37 4 71472271 71472271 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:71472271G>A ENST00000322937.6 + 13 1271 c.1168G>A c.(1168-1170)Gaa>Aaa p.E390K AMBN_ENST00000449493.2_Missense_Mutation_p.E375K NM_016519.5 NP_057603.1 Q9NP70 AMBN_HUMAN ameloblastin (enamel matrix protein) 390 bone mineralization|cell adhesion|cell proliferation|odontogenesis of dentine-containing tooth proteinaceous extracellular matrix growth factor activity|structural constituent of tooth enamel NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1) 29 Lung(101;0.235) GATGACCCCTGAATTAGCTGA 0.547000 28 48 0 0 1 0 0 TRABD2A 129293 broad.mit.edu 37 2 85066366 85066366 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:85066366G>A ENST00000335459.5 - 3 956 c.751C>T c.(751-753)Ctg>Ttg p.L251L TRABD2A_ENST00000409520.2_Silent_p.L300L|TRABD2A_ENST00000409133.1_Silent_p.L300L NM_001080824.1 NP_001074293.1 TraB domain containing 2A TTGTAGATCAGCTCCCGGCGT 0.498000 34 53 0 0 1 0 0 RBBP5 5929 broad.mit.edu 37 1 205069131 205069131 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:205069131G>A ENST00000264515.6 - 8 955 c.814C>T c.(814-816)Cgg>Tgg p.R272W RBBP5_ENST00000367164.1_Missense_Mutation_p.R272W NM_001193273.1|NM_005057.3 NP_001180202.1|NP_005048.2 Q15291 RBBP5_HUMAN retinoblastoma binding protein 5 272 histone H3-K4 methylation|regulation of transcription, DNA-dependent|response to estrogen stimulus|transcription, DNA-dependent MLL1 complex|Set1C/COMPASS complex methylated histone residue binding|transcription regulatory region DNA binding p.R272W(1) cervix(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1) 27 Breast(84;0.0505) BRCA - Breast invasive adenocarcinoma(75;0.0923) GCATGCTGCCGGGCAGAACCT 0.517000 105 96 0 0 1 0 0 HRASLS2 54979 broad.mit.edu 37 11 63326130 63326130 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:63326130C>T ENST00000255695.1 - 3 179 c.121G>A c.(121-123)Gaa>Aaa p.E41K NM_017878.1 NP_060348.1 Q9NWW9 HRSL2_HUMAN HRAS-like suppressor 2 41 lipid catabolic process cytoplasm acyltransferase activity|hydrolase activity breast(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1) 6 CCAGCAATTTCACCTGTGCAA 0.592000 61 100 0 0 1 0 0 NRG1 3084 broad.mit.edu 37 8 32585577 32585577 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:32585577C>T ENST00000341377.5 + 6 1130 c.613C>T c.(613-615)Ccc>Tcc p.P205S NRG1_ENST00000521670.1_Missense_Mutation_p.P205S|NRG1_ENST00000338921.4_Missense_Mutation_p.P205S|NRG1_ENST00000520502.2_Missense_Mutation_p.P260S|NRG1_ENST00000519301.1_Missense_Mutation_p.P150S|NRG1_ENST00000539990.1_Missense_Mutation_p.P51S|NRG1_ENST00000523079.1_Missense_Mutation_p.P205S|NRG1_ENST00000356819.4_Missense_Mutation_p.P205S|NRG1_ENST00000287842.3_Missense_Mutation_p.P205S|NRG1_ENST00000287845.5_Missense_Mutation_p.P171S|NRG1_ENST00000405005.2_Missense_Mutation_p.P205S|NRG1_ENST00000520407.1_Missense_Mutation_p.P386S|NRG1_ENST00000287840.5_Missense_Mutation_p.P205S Q02297 NRG1_HUMAN neuregulin 1 205 EGF-like. activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|Notch signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane cytokine activity|ErbB-3 class receptor binding|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1) 39 Breast(100;0.203) KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943) CCTTTCAAACCCCTCGAGATA 0.423000 39 81 0 0 1 0 0 INTS2 57508 broad.mit.edu 37 17 59996779 59996779 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:59996779G>A ENST00000444766.3 - 5 730 c.655C>T c.(655-657)Cct>Tct p.P219S INTS2_ENST00000251334.6_Missense_Mutation_p.P211S NM_020748.2 NP_065799.1 Q9H0H0 INT2_HUMAN integrator complex subunit 2 219 snRNA processing integral to membrane|integrator complex|nuclear membrane protein binding NS(1)|breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 38 AAACTATCAGGAACATTGGCC 0.388000 4 9 0 0 1 0 0 TNFRSF21 27242 broad.mit.edu 37 6 47251825 47251825 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:47251825C>T ENST00000296861.2 - 3 1485 c.1092G>A c.(1090-1092)gtG>gtA p.V364V NM_014452.3 NP_055267.1 O75509 TNR21_HUMAN tumor necrosis factor receptor superfamily, member 21 364 cellular lipid metabolic process cytoplasm|integral to membrane protein binding|receptor activity breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(7)|pancreas(1)|skin(2) 21 Lung(136;0.189) ACACCACAATCACCACAAGCA 0.512000 65 211 0 0 1 0 0 MAGI1 9223 broad.mit.edu 37 3 65365005 65365005 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:65365005C>T ENST00000330909.8 - 18 3009 c.3010G>A c.(3010-3012)Ggg>Agg p.G1004R MAGI1_ENST00000483466.1_Missense_Mutation_p.G1004R|MAGI1_ENST00000497477.2_Missense_Mutation_p.G976R|MAGI1_ENST00000402939.2_Missense_Mutation_p.G976R NM_015520.1 NP_056335.1 Q96QZ7 MAGI1_HUMAN membrane associated guanylate kinase, WW and PDZ domain containing 1 1004 Interaction with FCHSD2.|PDZ 5. cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly tight junction ATP binding|protein C-terminus binding breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5) 51 Lung NSC(201;0.0016) BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133) TCGTTCTCCCCGCGCCGGATC 0.677000 7 29 0 0 1 0 0 ZNF442 79973 broad.mit.edu 37 19 12461019 12461019 + Silent SNP G G C rs138796747 byFrequency TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:12461019G>C ENST00000242804.4 - 6 1962 c.1380C>G c.(1378-1380)ccC>ccG p.P460P ZNF442_ENST00000438182.1_Silent_p.P391P NM_030824.2 NP_110451.1 Q9H7R0 ZN442_HUMAN zinc finger protein 442 460 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 31 TACATTTATAGGGTTTCTCTC 0.378000 11 128 0 0 1 0 0 NOM1 64434 broad.mit.edu 37 7 156746817 156746817 + Missense_Mutation SNP C C G TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:156746817C>G ENST00000275820.3 + 3 1148 c.1133C>G c.(1132-1134)gCt>gGt p.A378G NOM1_ENST00000460332.1_3'UTR NM_138400.1 NP_612409.1 Q5C9Z4 NOM1_HUMAN nucleolar protein with MIF4G domain 1 378 MIF4G. RNA metabolic process nucleolus protein binding endometrium(5)|kidney(4)|large_intestine(9)|lung(7)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1) 31 Ovarian(565;0.218) all_hematologic(28;0.0749) OV - Ovarian serous cystadenocarcinoma(82;0.00301) UCEC - Uterine corpus endometrioid carcinoma (81;0.169) CCCAACATGGCTTCCATCAGT 0.458000 22 110 0 0 1 0 0 RPSA 3921 broad.mit.edu 37 3 39453451 39453451 + Nonsense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:39453451G>A ENST00000301821.6 + 6 801 c.692G>A c.(691-693)tGg>tAg p.W231* RPSA_ENST00000478027.1_3'UTR|RPSA_ENST00000443003.1_Nonsense_Mutation_p.W236* NM_001012321.1|NM_002295.4 NP_001012321.1|NP_002286.2 P08865 RSSA_HUMAN ribosomal protein SA 231 cell adhesion|endocrine pancreas development|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 3'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|ribosomal small subunit assembly|rRNA export from nucleus|translational elongation|translational termination|viral transcription 90S preribosome|cytosolic small ribosomal subunit|nucleus|plasma membrane protein binding|receptor activity|ribosome binding|structural constituent of ribosome endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1) 7 KIRC - Kidney renal clear cell carcinoma(284;0.0509)|Kidney(284;0.064) CAGGGTGAATGGACTGCTCCC 0.493000 4 144 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179613553 179613553 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:179613553G>A ENST00000360870.5 - 46 13796 c.13574C>T c.(13573-13575)tCa>tTa p.S4525L TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Intron|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000578746.1_RNA NM_133379.3 NP_596870.2 Q8WZ42 TITIN_HUMAN titin 655 Ig-like 25. K -> R (in Ref. 1; CAA62189). ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.S4525L(1) NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) AATGTTAGATGAATCTGATTC 0.323000 36 89 0 0 1 0 0 CHD6 84181 broad.mit.edu 37 20 40034123 40034123 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr20:40034123G>A ENST00000373233.3 - 37 7435 c.7258C>T c.(7258-7260)Ctt>Ttt p.L2420F CHD6_ENST00000480022.1_5'UTR NM_032221.3 NP_115597.3 Q8TD26 CHD6_HUMAN chromodomain helicase DNA binding protein 6 2420 chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9) 129 Myeloproliferative disorder(115;0.00425) TTTTCTGGAAGAAACCCCTGG 0.567000 11 46 0 0 1 0 0 NCAM1 4684 broad.mit.edu 37 11 113133598 113133598 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:113133598C>T ENST00000533760.1 + 17 2377 c.1778C>T c.(1777-1779)aCc>aTc p.T593I NCAM1_ENST00000316851.7_Intron|NCAM1_ENST00000397957.4_Intron NM_001242608.1 NP_001229537.1 P13591 NCAM1_HUMAN neural cell adhesion molecule 1 721 Fibronectin type-III 1. axon guidance|interferon-gamma-mediated signaling pathway anchored to membrane|extracellular region|Golgi membrane|integral to membrane breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1) 49 all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207) BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212) GCATCCTACACCTTTGTCTCA 0.418000 12 13 0 0 1 0 0 FAT4 79633 broad.mit.edu 37 4 126239395 126239395 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:126239395G>A ENST00000394329.3 + 1 1842 c.1829G>A c.(1828-1830)gGg>gAg p.G610E NM_024582.4 NP_078858.4 Q6V0I7 FAT4_HUMAN FAT atypical cadherin 4 610 Cadherin 6. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6) 355 GCAACTGACGGGGACCTGGGT 0.537000 43 72 0 0 1 0 0 PARP4 143 broad.mit.edu 37 13 25034155 25034155 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr13:25034155G>A ENST00000381989.3 - 18 2358 c.2253C>T c.(2251-2253)acC>acT p.T751T NM_006437.3 NP_006428.2 Q9UKK3 PARP4_HUMAN poly (ADP-ribose) polymerase family, member 4 751 cell death|DNA repair|inflammatory response|protein ADP-ribosylation|response to drug|transport cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule DNA binding|enzyme binding|NAD+ ADP-ribosyltransferase activity autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 63 all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052) all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195) AGGGTGCTACGGTGGCGGGCA 0.468000 13 34 0 0 1 0 0 SIM1 6492 broad.mit.edu 37 6 100868807 100868807 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:100868807G>A ENST00000369208.3 - 10 1808 c.1026C>T c.(1024-1026)ctC>ctT p.L342L SIM1_ENST00000262901.4_Silent_p.L342L P81133 SIM1_HUMAN single-minded family bHLH transcription factor 1 342 Single-minded C-terminal. cell differentiation|nervous system development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5) 79 all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13) BRCA - Breast invasive adenocarcinoma(108;0.0774) GATCCAGGGAGAGCTGCAGCC 0.527000 14 21 0 0 1 0 0 GLIPR1L1 256710 broad.mit.edu 37 12 75756960 75756960 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:75756960G>A ENST00000312442.2 + 4 646 c.600G>A c.(598-600)aaG>aaA p.K200K GLIPR1L1_ENST00000378695.4_Silent_p.K200K|CAPS2_ENST00000442339.2_Intron NM_152779.2 NP_689992.1 Q6UWM5 GPRL1_HUMAN GLI pathogenesis-related 1 like 1 200 extracellular region endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1) 10 AATGTGTAAAGAACCTCTGCA 0.289000 11 24 0 0 1 0 0 CHD5 26038 broad.mit.edu 37 1 6212561 6212561 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:6212561C>T ENST00000262450.3 - 6 880 c.781G>A c.(781-783)Gat>Aat p.D261N CHD5_ENST00000378021.1_5'UTR NM_015557.2 NP_056372.1 Q8TDI0 CHD5_HUMAN chromodomain helicase DNA binding protein 5 261 Lys-rich. chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2) 16 Ovarian(185;0.0634) all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15) Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193) TTCTTCCCATCTTTGGAGCCT 0.542000 26 59 0 0 1 0 0 CPXM2 119587 broad.mit.edu 37 10 125514227 125514227 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:125514227G>A ENST00000241305.3 - 13 2123 c.1969C>T c.(1969-1971)Cca>Tca p.P657S CPXM2_ENST00000368854.3_5'UTR NM_198148.2 NP_937791.2 Q8N436 CPXM2_HUMAN carboxypeptidase X (M14 family), member 2 657 cell adhesion|proteolysis extracellular space metallocarboxypeptidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3) 47 all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233) COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237) ATGGCGTTTGGGATTCCTTTT 0.458000 53 149 0 0 1 0 0 AHDC1 27245 broad.mit.edu 37 1 27877183 27877183 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:27877183G>A ENST00000374011.2 - 6 2412 c.1444C>T c.(1444-1446)Ccc>Tcc p.P482S AHDC1_ENST00000247087.5_Missense_Mutation_p.P482S|AHDC1_ENST00000482400.2_Intron NM_001029882.2 NP_001025053.1 Q5TGY3 AHDC1_HUMAN AT hook, DNA binding motif, containing 1 482 DNA binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 42 all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291) AGCGATACGGGGATCTTGGCC 0.632000 16 28 0 0 1 0 0 SERPINA1 5265 broad.mit.edu 37 14 94844804 94844804 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr14:94844804C>T ENST00000448921.1 - 7 1811 c.1239G>A c.(1237-1239)gtG>gtA p.V413V SERPINA1_ENST00000440909.1_Silent_p.V413V|SERPINA1_ENST00000449399.3_Silent_p.V413V|SERPINA1_ENST00000404814.4_Silent_p.V413V|SERPINA1_ENST00000393087.4_Silent_p.V413V|SERPINA1_ENST00000437397.1_Silent_p.V413V|SERPINA1_ENST00000393088.4_Silent_p.V413V|SERPINA1_ENST00000355814.4_Silent_p.V413V NM_001002236.2|NM_001127701.1|NM_001127703.1|NM_001127704.1|NM_001127705.1 NP_001002236.1|NP_001121173.1|NP_001121175.1|NP_001121176.1|NP_001121177.1 P01009 A1AT_HUMAN serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1 413 acute-phase response|platelet activation|platelet degranulation|regulation of proteolysis extracellular space|platelet alpha granule lumen|proteinaceous extracellular matrix protease binding|serine-type endopeptidase inhibitor activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|skin(6)|stomach(1) 24 all_cancers(154;0.0649)|all_epithelial(191;0.223) Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221) Alpha-1-proteinase inhibitor(DB00058) GGGTGGGATTCACCACTTTTC 0.507000 5 87 0 0 1 0 0 IGKV1D-16 28901 broad.mit.edu 37 2 90139124 90139124 + RNA SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:90139124C>T ENST00000492446.1 + 0 47 AGGGTCCTCGCTCAGCTCCTG 0.532000 26 271 0 0 1 0 0 C6 729 broad.mit.edu 37 5 41160292 41160292 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:41160292C>T ENST00000263413.3 - 11 1900 c.1636G>A c.(1636-1638)Ggc>Agc p.G546S C6_ENST00000337836.5_Missense_Mutation_p.G546S NM_001115131.1 NP_001108603.2 P13671 CO6_HUMAN complement component 6 546 EGF-like. complement activation, classical pathway|cytolysis|innate immune response membrane attack complex protein binding central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2) 96 Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157) CCATAGGTGCCACTCTGACAC 0.468000 63 185 0 0 1 0 0 MTSS1L 92154 broad.mit.edu 37 16 70712215 70712215 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr16:70712215C>T ENST00000338779.6 - 8 838 c.564G>A c.(562-564)cgG>cgA p.R188R NM_138383.2 NP_612392.1 Q765P7 MTSSL_HUMAN metastasis suppressor 1-like 188 IMD. filopodium assembly|signal transduction actin binding|cytoskeletal adaptor activity|SH3 domain binding breast(1)|central_nervous_system(2)|endometrium(1)|liver(1)|lung(1)|skin(1) 7 CGATCAGCGCCCGGCGCACGG 0.662000 49 42 0 0 1 0 0 TPH2 121278 broad.mit.edu 37 12 72343377 72343377 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:72343377G>A ENST00000333850.3 + 5 691 c.550G>A c.(550-552)Gac>Aac p.D184N TPH2_ENST00000546576.1_3'UTR NM_173353.3 NP_775489.2 Q8IWU9 TPH2_HUMAN tryptophan hydroxylase 2 184 aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process cytosol amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 41 L-Tryptophan(DB00150) GGGATTTAAGGACAATGTCTA 0.353000 29 61 0 0 1 0 0 FAM115A 9747 broad.mit.edu 37 7 143573390 143573390 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:143573390G>A ENST00000479870.1 - 2 520 c.312C>T c.(310-312)atC>atT p.I104I FAM115A_ENST00000392900.3_Intron|FAM115A_ENST00000355951.2_Silent_p.I104I NM_001206938.1|NM_001206941.1|NM_014719.2 NP_001193867.1|NP_001193870.1|NP_055534.1 Q9Y4C2 F115A_HUMAN family with sequence similarity 115, member A 104 NS(1)|endometrium(1)|lung(5) 7 Melanoma(164;0.0903) AGCCCTCGAGGATTTTGGCCA 0.547000 34 109 0 0 1 0 0 EMC3 55831 broad.mit.edu 37 3 10011406 10011406 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:10011406G>A ENST00000245046.2 - 7 1112 c.654C>T c.(652-654)ttC>ttT p.F218F NM_018447.2 NP_060917.1 ER membrane protein complex subunit 3 AGTATACCTTGAAAGCTTTGT 0.468000 39 68 0 0 1 0 0 LAMA2 3908 broad.mit.edu 37 6 129636777 129636777 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:129636777C>T ENST00000421865.2 + 25 3761 c.3712C>T c.(3712-3714)Cca>Tca p.P1238S NM_000426.3|NM_001079823.1 NP_000417.2|NP_001073291.1 P24043 LAMA2_HUMAN laminin, alpha 2 1238 Laminin IV type A 2. cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity p.P1238S(1) NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2) 194 OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245) TTGGAAACTTCCAGAACAATT 0.378000 6 87 0 0 1 0 0 SCN5A 6331 broad.mit.edu 37 3 38645489 38645489 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:38645489C>T ENST00000413689.1 - 12 1797 c.1604G>A c.(1603-1605)cGa>cAa p.R535Q SCN5A_ENST00000443581.1_Missense_Mutation_p.R535Q|SCN5A_ENST00000451551.2_Missense_Mutation_p.R535Q|SCN5A_ENST00000414099.2_Missense_Mutation_p.R535Q|SCN5A_ENST00000423572.2_Missense_Mutation_p.R535Q|SCN5A_ENST00000450102.2_Missense_Mutation_p.R535Q|SCN5A_ENST00000449557.2_Missense_Mutation_p.R535Q|SCN5A_ENST00000333535.4_Missense_Mutation_p.R535Q|SCN5A_ENST00000455624.2_Missense_Mutation_p.R535Q|SCN5A_ENST00000425664.1_Missense_Mutation_p.R535Q NM_001099404.1|NM_001160160.1 NP_001092874.1|NP_001153632.1 Q14524 SCN5A_HUMAN sodium channel, voltage-gated, type V, alpha subunit 535 blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction sarcolemma|voltage-gated sodium channel complex protein binding|voltage-gated sodium channel activity NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4) 107 Medulloblastoma(35;0.163) KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1) Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661) ACCCAGGTCTCGCCTGCGAAA 0.582000 6 24 0 0 1 0 0 TRIM31 11074 broad.mit.edu 37 6 30080228 30080228 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:30080228C>T ENST00000376734.3 - 2 480 c.355G>A c.(355-357)Gaa>Aaa p.E119K TRIM31_ENST00000540829.1_Missense_Mutation_p.E119K|TRIM31-AS1_ENST00000440874.1_RNA NM_007028.3 NP_008959.3 Q9BZY9 TRI31_HUMAN tripartite motif containing 31 119 mitochondrion ligase activity|zinc ion binding central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(2) 15 TCCTTGGATTCACGACACACA 0.493000 45 92 0 0 1 0 0 SOSTDC1 25928 broad.mit.edu 37 7 16502463 16502463 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:16502463G>A ENST00000396652.1 - 5 1115 c.403C>T c.(403-405)Cct>Tct p.P135S SOSTDC1_ENST00000307068.4_Missense_Mutation_p.P111S Q6X4U4 SOSD1_HUMAN sclerostin domain containing 1 111 CTCK. Wnt receptor signaling pathway central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(2) 6 Lung NSC(10;0.185) UCEC - Uterine corpus endometrioid carcinoma (126;0.177) ATCCAGTTAGGGAGCACTGGC 0.562000 38 77 0 0 1 0 0 ZNF831 128611 broad.mit.edu 37 20 57767921 57767921 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr20:57767921C>T ENST00000371030.2 + 1 1847 c.1847C>T c.(1846-1848)tCc>tTc p.S616F NM_178457.1 NP_848552.1 Q5JPB2 ZN831_HUMAN zinc finger protein 831 616 intracellular nucleic acid binding|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3) 125 all_lung(29;0.0085) AAGATGTTCTCCCAGGAGAAG 0.592000 49 104 0 0 1 0 0 SLC5A4 6527 broad.mit.edu 37 22 32626954 32626954 + Splice_Site SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr22:32626954C>T ENST00000266086.4 - 10 1141 c.e10+1 RP1-90G24.10_ENST00000434942.1_RNA NM_014227.2 NP_055042.1 Q9NY91 SC5A4_HUMAN solute carrier family 5 (glucose activated ion channel), member 4 carbohydrate transport|sodium ion transport integral to membrane symporter activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|pancreas(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 CATTTTCCTACCTTGGGGCAT 0.532000 12 43 0 0 1 0 0 CYFIP2 26999 broad.mit.edu 37 5 156742004 156742004 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:156742004G>A ENST00000347377.6 + 13 1689 c.1258G>A c.(1258-1260)Gac>Aac p.D420N CYFIP2_ENST00000521420.1_Missense_Mutation_p.D394N|CYFIP2_ENST00000442283.2_5'UTR|CYFIP2_ENST00000541131.1_Missense_Mutation_p.D345N|CYFIP2_ENST00000318218.6_Missense_Mutation_p.D420N|CYFIP2_ENST00000522463.1_Missense_Mutation_p.D224N|CYFIP2_ENST00000377576.3_Missense_Mutation_p.D420N|CYFIP2_ENST00000435847.2_Missense_Mutation_p.D94N NM_001037332.2 NP_001032409.2 Q96F07 CYFP2_HUMAN cytoplasmic FMR1 interacting protein 2 420 apoptosis|cell-cell adhesion cell junction|perinuclear region of cytoplasm|synapse|synaptosome protein binding breast(1)|endometrium(12)|kidney(2)|lung(23) 38 Renal(175;0.00212) Medulloblastoma(196;0.0306)|all_neural(177;0.0897) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) TCATCCCACAGACAAGTTCTG 0.493000 5 8 0 0 1 0 0 CRYAA 1409 broad.mit.edu 37 21 44592263 44592263 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr21:44592263C>T ENST00000291554.2 + 3 487 c.395C>T c.(394-396)tCc>tTc p.S132F CRYAA_ENST00000398132.1_Missense_Mutation_p.S95F|CRYAA_ENST00000482775.1_3'UTR|CRYAA_ENST00000398133.1_Missense_Mutation_p.S112F NM_000394.2 NP_000385.1 P02489 CRYAA_HUMAN crystallin, alpha A 132 anti-apoptosis|negative regulation of intracellular transport|protein homooligomerization|response to heat|visual perception cytoplasm|nucleus structural constituent of eye lens|unfolded protein binding NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1) 11 CTCTCTTGCTCCCTGTCTGCC 0.672000 34 95 0 0 1 0 0 CDHR2 54825 broad.mit.edu 37 5 176011847 176011847 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:176011847G>A ENST00000510636.1 + 19 2839 c.2565G>A c.(2563-2565)ggG>ggA p.G855G CDHR2_ENST00000261944.5_Silent_p.G855G|CDHR2_ENST00000506348.1_Silent_p.G855G NM_001171976.1 NP_001165447.1 Q9BYE9 CDHR2_HUMAN cadherin-related family member 2 855 Cadherin 8. homophilic cell adhesion|negative regulation of cell growth apical plasma membrane|cell junction|integral to membrane calcium ion binding|protein binding breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1) 56 CCAAGGCCGGGGTCGATGTGG 0.607000 42 62 0 0 1 0 0 NCOA6 23054 broad.mit.edu 37 20 33330663 33330663 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr20:33330663G>A ENST00000374796.2 - 12 5967 c.3397C>T c.(3397-3399)Cct>Tct p.P1133S NCOA6_ENST00000359003.2_Missense_Mutation_p.P1133S Q14686 NCOA6_HUMAN nuclear receptor coactivator 6 1133 NCOA1-binding region. brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter transcription factor complex chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1) 107 CTTGCTTCAGGGAGTGAGGCC 0.532000 45 89 0 0 1 0 0 STX5 6811 broad.mit.edu 37 11 62592521 62592521 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:62592521G>A ENST00000294179.3 - 8 819 c.666C>T c.(664-666)gcC>gcT p.A222A STX5_ENST00000394690.1_Silent_p.A168A|STX5_ENST00000377897.4_Silent_p.A222A|STX5_ENST00000541317.1_Silent_p.A126A NM_001244666.1|NM_003164.4 NP_001231595.1|NP_003155.2 Q13190 STX5_HUMAN syntaxin 5 222 intracellular protein transport|retrograde transport, endosome to Golgi|vesicle targeting ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|nucleus|SNARE complex protein N-terminus binding|SNAP receptor activity breast(2)|endometrium(2)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 18 GGTGGTTAGGGGCAAGGGGCA 0.572000 4 65 0 0 1 0 0 CLEC4C 170482 broad.mit.edu 37 12 7882279 7882279 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:7882279G>A ENST00000542353.1 - 7 1045 c.555C>T c.(553-555)ttC>ttT p.F185F CLEC4C_ENST00000540085.1_Silent_p.F154F|CLEC4C_ENST00000360345.3_Silent_p.F185F|CLEC4C_ENST00000354629.5_Silent_p.F154F NM_130441.2 NP_569708.1 Q8WTT0 CLC4C_HUMAN C-type lectin domain family 4, member C 185 C-type lectin. innate immune response integral to membrane sugar binding autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 Kidney(36;0.0915) CTGAAGAACGGAAATTTATTA 0.393000 42 113 0 0 1 0 0 CCDC60 160777 broad.mit.edu 37 12 119943007 119943007 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:119943007C>T ENST00000327554.2 + 7 1247 c.782C>T c.(781-783)tCg>tTg p.S261L RP11-768F21.1_ENST00000509470.2_lincRNA NM_178499.3 NP_848594.2 Q8IWA6 CCD60_HUMAN coiled-coil domain containing 60 261 endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 40 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) BRCA - Breast invasive adenocarcinoma(302;0.207) AACCCTGGCTCGGATGAGCCC 0.567000 96 170 0 0 1 0 0 DFNB59 494513 broad.mit.edu 37 2 179325723 179325723 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:179325723G>A ENST00000409117.3 + 7 1137 c.781G>A c.(781-783)Gat>Aat p.D261N DFNB59_ENST00000375129.4_Missense_Mutation_p.D261N NM_001042702.3 NP_001036167.1 Q0ZLH3 PJVK_HUMAN deafness, autosomal recessive 59 261 sensory perception of sound breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(1) 18 OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.0159)|all cancers(119;0.0564) AAGAGTGATGGATGTCATTTC 0.333000 55 134 0 0 1 0 0 KIAA1462 57608 broad.mit.edu 37 10 30317571 30317571 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:30317571G>A ENST00000375377.1 - 3 1607 c.1506C>T c.(1504-1506)ggC>ggT p.G502G NM_020848.2 NP_065899.1 Q9P266 K1462_HUMAN KIAA1462 502 breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1) 75 CGGGGGGCTGGCCCCACAGCC 0.647000 65 160 0 0 1 0 0 PHC1 1911 broad.mit.edu 37 12 9085217 9085217 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:9085217C>T ENST00000433083.2 + 7 1174 c.1029C>T c.(1027-1029)ctC>ctT p.L343L PHC1_ENST00000536844.1_Silent_p.L167L|PHC1_ENST00000544916.1_Silent_p.L388L|PHC1_ENST00000433847.2_3'UTR|PHC1_ENST00000543824.1_Silent_p.L388L P78364 PHC1_HUMAN polyhomeotic homolog 1 (Drosophila) 388 multicellular organismal development PcG protein complex DNA binding|zinc ion binding breast(2)|cervix(1)|endometrium(5)|large_intestine(8)|liver(2)|lung(3)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 27 AGATCCACCTCCAGCAGAAAC 0.527000 21 92 0 0 1 0 0 RFX6 222546 broad.mit.edu 37 6 117241596 117241596 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:117241596G>A ENST00000332958.2 + 12 1322 c.1306G>A c.(1306-1308)Gaa>Aaa p.E436K NM_173560.3 NP_775831.2 Q8HWS3 RFX6_HUMAN regulatory factor X, 6 436 glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation nucleus protein binding|transcription regulatory region DNA binding cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 59 CACAGACACTGAATCTGGTAT 0.413000 72 96 0 0 1 0 0 CMYA5 202333 broad.mit.edu 37 5 79031191 79031191 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:79031191C>T ENST00000446378.2 + 2 6634 c.6603C>T c.(6601-6603)gaC>gaT p.D2201D NM_153610.3 NP_705838.3 Q8N3K9 CMYA5_HUMAN cardiomyopathy associated 5 2201 perinuclear region of cytoplasm NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1) 128 Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262) OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35) AACAAGAAGACTTAGAAACAC 0.408000 73 108 0 0 1 0 0 PCBP3 54039 broad.mit.edu 37 21 47350724 47350724 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr21:47350724C>T ENST00000400314.1 + 13 1159 c.821C>T c.(820-822)tCc>tTc p.S274F PRED62_ENST00000593412.1_Intron|PCBP3_ENST00000400310.1_Intron|PCBP3_ENST00000400308.1_Missense_Mutation_p.S248F|PCBP3_ENST00000468429.1_3'UTR|PCBP3_ENST00000449640.1_Missense_Mutation_p.S274F|PCBP3_ENST00000400304.1_Missense_Mutation_p.S264F|PCBP3_ENST00000400309.1_Missense_Mutation_p.S273F P57721 PCBP3_HUMAN poly(rC) binding protein 3 274 mRNA metabolic process cytosol|mitochondrion|nucleus|ribonucleoprotein complex DNA binding|RNA binding biliary_tract(1)|endometrium(3)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 17 all_hematologic(128;0.24) Colorectal(79;0.0411)|READ - Rectum adenocarcinoma(84;0.0649) ttacactcctccgaagaagct 0.517000 24 47 0 0 1 0 0 FOXR2 139628 broad.mit.edu 37 X 55650403 55650403 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chrX:55650403C>T ENST00000339140.3 + 1 571 c.259C>T c.(259-261)Ctg>Ttg p.L87L NM_198451.3 NP_940853.1 Q6PJQ5 FOXR2_HUMAN forkhead box R2 87 embryo development|organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(8)|prostate(1)|skin(1)|urinary_tract(1) 19 CCCCAATATCCTGTGCCCCCT 0.552000 33 15 0 0 1 0 0 XIRP2 129446 broad.mit.edu 37 2 168101443 168101443 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:168101443G>A ENST00000409195.1 + 9 3630 c.3541G>A c.(3541-3543)Gaa>Aaa p.E1181K XIRP2_ENST00000295237.9_Missense_Mutation_p.E1181K|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.E959K NM_152381.5 NP_689594.4 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 1006 actin cytoskeleton organization cell junction actin binding NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7) 315 ACAAGGAGAAGAAGTGAAGGA 0.378000 4 98 0 0 1 0 0 MTMR4 9110 broad.mit.edu 37 17 56572993 56572993 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:56572993G>A ENST00000323456.5 - 16 2634 c.2510C>T c.(2509-2511)cCc>cTc p.P837L MTMR4_ENST00000579925.1_Missense_Mutation_p.P780L NM_004687.4 NP_004678.3 Q9NYA4 MTMR4_HUMAN myotubularin related protein 4 837 cytoplasm|membrane metal ion binding|protein tyrosine phosphatase activity breast(10)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|skin(5) 36 Medulloblastoma(34;0.127)|all_neural(34;0.237) AGACCCTGAGGGATCTTGGTT 0.517000 31 104 0 0 1 0 0 ABLIM2 84448 broad.mit.edu 37 4 8089946 8089946 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:8089946G>A ENST00000296372.8 - 4 546 c.404C>T c.(403-405)tCc>tTc p.S135F ABLIM2_ENST00000361737.5_Missense_Mutation_p.S135F|ABLIM2_ENST00000341937.5_Missense_Mutation_p.S135F|ABLIM2_ENST00000407564.3_Missense_Mutation_p.S135F|ABLIM2_ENST00000546334.1_Missense_Mutation_p.S135F|ABLIM2_ENST00000361581.5_Missense_Mutation_p.S135F|ABLIM2_ENST00000545242.1_Missense_Mutation_p.S135F|ABLIM2_ENST00000505872.1_Missense_Mutation_p.S135F|ABLIM2_ENST00000318888.4_5'UTR|ABLIM2_ENST00000447017.2_Missense_Mutation_p.S135F|ABLIM2_ENST00000428004.2_Missense_Mutation_p.S135F Q6H8Q1 ABLM2_HUMAN actin binding LIM protein family, member 2 135 LIM zinc-binding 2. axon guidance|cytoskeleton organization actin cytoskeleton|cytoplasm|intermediate filament cytoskeleton|nucleus actin binding|zinc ion binding NS(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|pancreas(3)|prostate(2)|urinary_tract(1) 25 TACGGGCAGGGAACACTTCTG 0.642000 11 25 0 0 1 0 0 DENND4B 9909 broad.mit.edu 37 1 153915521 153915521 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:153915521G>A ENST00000361217.4 - 3 821 c.403C>T c.(403-405)Cct>Tct p.P135S NM_014856.2 NP_055671.2 O75064 DEN4B_HUMAN DENN/MADD domain containing 4B 135 MABP. NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1) 36 all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) GGGCCTGGAGGGGCCAGGTTT 0.647000 43 52 0 0 1 0 0 SZT2 23334 broad.mit.edu 37 1 43906183 43906183 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:43906183C>T ENST00000562955.1 + 51 7099 c.7099C>T c.(7099-7101)Ccc>Tcc p.P2367S SZT2_ENST00000372442.1_Missense_Mutation_p.P1525S NM_015284.3 NP_056099.3 Q5T011 SZT2_HUMAN seizure threshold 2 homolog (mouse) 2424 peroxisome p.P1525S(2) NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 113 TAGCACCTTTCCCCCTGCCCC 0.567000 8 174 0 0 1 0 0 UBQLN3 50613 broad.mit.edu 37 11 5529725 5529725 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:5529725G>A ENST00000311659.4 - 2 1211 c.1064C>T c.(1063-1065)tCc>tTc p.S355F HBG2_ENST00000380259.2_Intron NM_017481.2 NP_059509.1 Q9H347 UBQL3_HUMAN ubiquilin 3 355 NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2) 39 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) AGTTCCTAGGGACTGGGGGTT 0.493000 50 48 0 0 1 0 0 ADCY8 114 broad.mit.edu 37 8 131964130 131964130 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:131964130G>A ENST00000286355.5 - 3 3317 c.1225C>T c.(1225-1227)Cgc>Tgc p.R409C ADCY8_ENST00000377928.3_Missense_Mutation_p.R409C NM_001115.2 NP_001106.1 P40145 ADCY8_HUMAN adenylate cyclase 8 (brain) 409 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|membrane fraction|plasma membrane ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding p.R409G(2) NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2) 134 Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000538) TTCTCATAGCGATGGATGTAG 0.517000 HNSCC(32;0.087) 24 49 0 0 1 0 0 BDP1 55814 broad.mit.edu 37 5 70805815 70805815 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:70805815C>T ENST00000358731.4 + 17 3159 c.2896C>T c.(2896-2898)Cca>Tca p.P966S BDP1_ENST00000380675.2_5'UTR NM_018429.2 NP_060899.2 A6H8Y1 BDP1_HUMAN B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB 966 9 X 55 AA repeats of G-R-R-X-I-S-P-X-E-N- G-X-E-E-V-K-P-X-X-E-M-E-T-D-L-K-X-T-G-R- E-X-X-X-R-E-K-T-X-E-X-X-D-A-X-E-E-I-D-X- D-L-E-E-T. regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter nucleoplasm DNA binding NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 72 Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50) TGAGAGTTCCCCAAGGGAGAA 0.448000 43 104 0 0 1 0 0 DPYD 1806 broad.mit.edu 37 1 97770838 97770838 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:97770838C>T ENST00000370192.3 - 18 2376 c.2276G>A c.(2275-2277)cGa>cAa p.R759Q DPYD-AS1_ENST00000422980.1_RNA NM_000110.3 NP_000101.2 Q12882 DPYD_HUMAN dihydropyrimidine dehydrogenase 759 'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process cytosol 4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1) 83 all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994) Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216) Capecitabine(DB01101)|Enfuvirtide(DB00109) ATATGTAGTTCGCTTTGCAAT 0.478000 28 70 0 0 1 0 0 DNAH7 56171 broad.mit.edu 37 2 196788394 196788394 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:196788394G>A ENST00000312428.6 - 23 3850 c.3750C>T c.(3748-3750)ctC>ctT p.L1250L NM_018897.2 NP_061720.2 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 1250 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3) 205 CAAGTGATGAGAGGACATCTC 0.408000 32 57 0 0 1 0 0 AFF2 2334 broad.mit.edu 37 X 148048474 148048474 + Missense_Mutation SNP T T A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chrX:148048474T>A ENST00000370460.2 + 14 3547 c.3068T>A c.(3067-3069)aTt>aAt p.I1023N AFF2_ENST00000370457.5_Missense_Mutation_p.I988N|AFF2_ENST00000342251.3_Missense_Mutation_p.I990N|AFF2_ENST00000286437.5_Missense_Mutation_p.I664N NM_001169123.1|NM_002025.3 NP_001162594.1|NP_002016.2 P51816 AFF2_HUMAN AF4/FMR2 family, member 2 1023 brain development|mRNA processing|regulation of RNA splicing|RNA splicing nuclear speck G-quadruplex RNA binding|protein binding breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 109 Acute lymphoblastic leukemia(192;6.56e-05) accactaccatttccaccatc 0.562000 136 38 0 0 1 0 0 MYH1 4619 broad.mit.edu 37 17 10398601 10398601 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:10398601C>T ENST00000226207.5 - 36 5297 c.5203G>A c.(5203-5205)Gag>Aag p.E1735K CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA NM_005963.3 NP_005954.3 P12882 MYH1_HUMAN myosin, heavy chain 1, skeletal muscle, adult 1735 muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5) 176 ATGTCTGTCTCCAGCTTCTTC 0.428000 68 106 0 0 1 0 0 LECT2 3950 broad.mit.edu 37 5 135286995 135286995 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:135286995G>A ENST00000274507.1 - 3 406 c.206C>T c.(205-207)cCa>cTa p.P69L LECT2_ENST00000471827.1_5'UTR|FBXL21_ENST00000467490.1_RNA|LECT2_ENST00000514447.2_Missense_Mutation_p.P69L|LECT2_ENST00000512872.1_5'UTR|LECT2_ENST00000522943.1_Missense_Mutation_p.P69L NM_002302.2 NP_002293.2 O14960 LECT2_HUMAN leukocyte cell-derived chemotaxin 2 69 chemotaxis|skeletal system development cytoplasm|extracellular space large_intestine(1)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 4 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) TCCAGTGAATGGTGCGTACAC 0.458000 27 55 0 0 1 0 0 PAF1 54623 broad.mit.edu 37 19 39879590 39879590 + Missense_Mutation SNP A A T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:39879590A>T ENST00000221265.3 - 8 963 c.633T>A c.(631-633)ttT>ttA p.F211L PAF1_ENST00000595564.1_Missense_Mutation_p.F201L|PAF1_ENST00000221266.7_Intron NM_019088.3 NP_061961.2 Q8N7H5 PAF1_HUMAN Paf1, RNA polymerase II associated factor, homolog (S. cerevisiae) 211 histone H2B ubiquitination|histone monoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent Cdc73/Paf1 complex protein binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)|urinary_tract(2) 17 all_cancers(60;9.14e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.88e-06)|Ovarian(47;0.0512) Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199) GCCTGACCTTAAAGTCTGGGA 0.527000 81 105 0 0 1 0 0 ASTN2 23245 broad.mit.edu 37 9 119770383 119770383 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:119770383C>T ENST00000313400.4 - 7 1679 c.1579G>A c.(1579-1581)Gac>Aac p.D527N ASTN2_ENST00000361209.2_Missense_Mutation_p.D476N|ASTN2_ENST00000373996.3_Missense_Mutation_p.D527N|ASTN2_ENST00000361477.3_5'UTR O75129 ASTN2_HUMAN astrotactin 2 527 EGF-like 1. integral to membrane p.D476N(1) breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1) 102 GTTTCTGGGTCGCAGAGCTGC 0.577000 27 81 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179588293 179588293 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:179588293C>T ENST00000589042.1 - 74 21758 c.21534G>A c.(21532-21534)gtG>gtA p.V7178V TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Silent_p.V6861V|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Silent_p.V5934V|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|RP11-171I2.1_ENST00000590024.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 6861 Ig-like 53. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GGTCTCCTTTCACTAGTTCTC 0.423000 14 37 0 0 1 0 0 SLC22A7 10864 broad.mit.edu 37 6 43266172 43266172 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:43266172C>T ENST00000372585.5 + 1 171 c.76C>T c.(76-78)Ctg>Ttg p.L26L SLC22A7_ENST00000372574.3_Silent_p.L26L|SLC22A7_ENST00000487175.1_Intron|SLC22A7_ENST00000372589.3_Silent_p.L26L NM_153320.2 NP_696961.2 Q9Y694 S22A7_HUMAN solute carrier family 22 (organic anion transporter), member 7 26 basolateral plasma membrane|integral to plasma membrane|membrane fraction anion:anion antiporter activity|sodium-independent organic anion transmembrane transporter activity NS(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(3) 26 Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00998)|OV - Ovarian serous cystadenocarcinoma(102;0.0305) ACTGCTGGCCCTGCCCCGAGT 0.647000 44 107 0 0 1 0 0 HJURP 55355 broad.mit.edu 37 2 234752853 234752853 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:234752853G>A ENST00000411486.2 - 7 637 c.572C>T c.(571-573)cCc>cTc p.P191L HJURP_ENST00000432087.1_Missense_Mutation_p.P137L|HJURP_ENST00000441687.1_Missense_Mutation_p.P106L|HJURP_ENST00000434039.1_Intron NM_018410.3 NP_060880.3 Q8NCD3 HJURP_HUMAN Holliday junction recognition protein 191 cell cycle|CenH3-containing nucleosome assembly at centromere|centromeric core chromatin assembly|chromosome segregation|regulation of DNA binding|regulation of protein complex assembly condensed chromosome kinetochore|cytoplasm|nucleolus|nucleoplasm DNA binding|histone binding NS(2)|breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(3)|lung(11)|ovary(2)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 38 Breast(86;0.00204)|all_lung(227;0.00433)|Renal(207;0.00685)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0719)|Lung SC(224;0.128) Epithelial(121;2.01e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000186)|Lung(119;0.00521)|LUSC - Lung squamous cell carcinoma(224;0.00829) ACACTCACCGGGGGCAGGCAC 0.557000 44 108 0 0 1 0 0 FOXJ3 22887 broad.mit.edu 37 1 42654519 42654519 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:42654519G>A ENST00000372572.1 - 13 1845 c.1534C>T c.(1534-1536)Ctt>Ttt p.L512F FOXJ3_ENST00000372573.1_Missense_Mutation_p.L512F|FOXJ3_ENST00000361346.1_Missense_Mutation_p.L512F|FOXJ3_ENST00000361776.1_Missense_Mutation_p.L478F|FOXJ3_ENST00000545068.1_Missense_Mutation_p.L512F|FOXJ3_ENST00000372571.1_Missense_Mutation_p.L26F NM_001198851.1 NP_001185780.1 Q9UPW0 FOXJ3_HUMAN forkhead box J3 512 embryo development|organ development|pattern specification process|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|tissue development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 18 Ovarian(52;0.01)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0333) AACTGATTAAGAGAAGAACAA 0.398000 25 54 0 0 1 0 0 CACNA1S 779 broad.mit.edu 37 1 201058395 201058395 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:201058395G>A ENST00000362061.3 - 6 1117 c.891C>T c.(889-891)gtC>gtT p.V297V CACNA1S_ENST00000367338.3_Silent_p.V297V NM_000069.2 NP_000060.2 Q13698 CAC1S_HUMAN calcium channel, voltage-dependent, L type, alpha 1S subunit 297 axon guidance I band|T-tubule|voltage-gated calcium channel complex high voltage-gated calcium channel activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 102 Magnesium Sulfate(DB00653)|Verapamil(DB00661) CCCAGTAAAGGACGTCAGTCC 0.607000 35 82 0 0 1 0 0 VN1R2 317701 broad.mit.edu 37 19 53762535 53762535 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:53762535C>T ENST00000341702.3 + 1 991 c.907C>T c.(907-909)Ctc>Ttc p.L303F VN1R2_ENST00000598458.1_3'UTR NM_173856.2 NP_776255.2 Q8NFZ6 VN1R2_HUMAN vomeronasal 1 receptor 2 303 response to pheromone integral to membrane|plasma membrane pheromone receptor activity breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1) 31 GBM - Glioblastoma multiforme(134;0.00301) TAGGAACAATCTCTACCCCAA 0.493000 57 100 0 0 1 0 0 SULT6B1 391365 broad.mit.edu 37 2 37398590 37398590 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:37398590G>A ENST00000535679.1 - 6 767 c.768C>T c.(766-768)ttC>ttT p.F256F SULT6B1_ENST00000379149.2_Silent_p.F152F|SULT6B1_ENST00000407963.1_Silent_p.F218F|SULT6B1_ENST00000260637.3_Silent_p.F218F Q6IMI4 ST6B1_HUMAN sulfotransferase family, cytosolic, 6B, member 1 256 cytoplasm sulfotransferase activity NS(1)|breast(1)|central_nervous_system(1)|large_intestine(3)|lung(5)|ovary(1) 12 all_hematologic(82;0.248) TGCGGAAAAGGAATGGGCCGA 0.463000 57 123 0 0 1 0 0 ABCA8 10351 broad.mit.edu 37 17 66902293 66902293 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:66902293C>T ENST00000269080.2 - 17 2307 c.2170G>A c.(2170-2172)Gat>Aat p.D724N ABCA8_ENST00000430352.2_Missense_Mutation_p.D764N|ABCA8_ENST00000586539.1_Missense_Mutation_p.D764N NM_007168.2 NP_009099.1 O94911 ABCA8_HUMAN ATP-binding cassette, sub-family A (ABC1), member 8 724 integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4) 83 Breast(10;4.56e-13) CTATCAAGATCCTTGTAAAGT 0.313000 28 138 0 0 1 0 0 SLC15A2 6565 broad.mit.edu 37 3 121641895 121641895 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:121641895C>T ENST00000489711.1 + 10 1264 c.876C>T c.(874-876)ctC>ctT p.L292L SLC15A2_ENST00000295605.2_Silent_p.L261L NM_021082.3 NP_066568.3 Q16348 S15A2_HUMAN solute carrier family 15 (oligopeptide transporter), member 2 292 protein transport integral to plasma membrane peptide:hydrogen symporter activity|protein binding NS(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(17)|skin(6)|upper_aerodigestive_tract(2) 36 GBM - Glioblastoma multiforme(114;0.0967) Cefadroxil(DB01140) AGAAGCAGCTCATTATGGATG 0.423000 18 228 0 0 1 0 0 BPIFC 254240 broad.mit.edu 37 22 32831850 32831850 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr22:32831850C>T ENST00000397452.1 - 9 875 c.765G>A c.(763-765)ctG>ctA p.L255L BPIFC_ENST00000534972.1_5'UTR|BPIFC_ENST00000432451.2_Silent_p.L69L|BPIFC_ENST00000300399.3_Silent_p.L255L Q8NFQ6 BPIL2_HUMAN BPI fold containing family C 255 extracellular region lipopolysaccharide binding|phospholipid binding TGAGGTTTTCCAGTGGGTAGA 0.458000 33 59 0 0 1 0 0 TLL1 7092 broad.mit.edu 37 4 166986911 166986911 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:166986911C>T ENST00000061240.2 + 16 2731 c.2084C>T c.(2083-2085)gCt>gTt p.A695V TLL1_ENST00000507499.1_Missense_Mutation_p.A718V NM_012464.4 NP_036596.3 O43897 TLL1_HUMAN tolloid-like 1 695 CUB 3. cell differentiation|proteolysis|skeletal system development extracellular region calcium ion binding|metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 77 all_hematologic(180;0.221) Melanoma(52;0.0315)|Prostate(90;0.0405) GBM - Glioblastoma multiforme(119;0.103) TTCTGTGGCGCTGAAGTGCCT 0.388000 34 79 0 0 1 0 0 PTPRZ1 5803 broad.mit.edu 37 7 121652082 121652082 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:121652082G>A ENST00000393386.2 + 12 3393 c.2982G>A c.(2980-2982)ggG>ggA p.G994G PTPRZ1_ENST00000483028.1_Intron|PTPRZ1_ENST00000449182.1_Intron NM_001206838.1|NM_002851.2 NP_001193767.1|NP_002842.2 P23471 PTPRZ_HUMAN protein tyrosine phosphatase, receptor-type, Z polypeptide 1 994 central nervous system development integral to plasma membrane protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity p.G994G(2) NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2) 106 CTGGTGATGGGGAATGGTCTG 0.448000 6 250 0 0 1 0 0 LMO7 4008 broad.mit.edu 37 13 76381981 76381981 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr13:76381981G>A ENST00000357063.3 + 11 2978 c.1718G>A c.(1717-1719)cGa>cAa p.R573Q LMO7_ENST00000465261.2_Missense_Mutation_p.R288Q|LMO7_ENST00000341547.4_Intron|LMO7_ENST00000526202.1_Intron|LMO7_ENST00000321797.8_Missense_Mutation_p.R288Q|LMO7_ENST00000377534.3_Missense_Mutation_p.R573Q Q8WWI1 LMO7_HUMAN LIM domain 7 573 cytoplasm|nucleus|ubiquitin ligase complex ubiquitin-protein ligase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 56 Breast(118;0.0992) GBM - Glioblastoma multiforme(99;0.0109) ATTGTTCGCCGAATTCCAGCA 0.453000 53 62 0 0 1 0 0 DNAH2 146754 broad.mit.edu 37 17 7671250 7671250 + Silent SNP C C T rs147333435 byFrequency TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:7671250C>T ENST00000572933.1 + 23 5168 c.3708C>T c.(3706-3708)atC>atT p.I1236I DNAH2_ENST00000389173.2_Silent_p.I1236I Q9P225 DYH2_HUMAN dynein, axonemal, heavy chain 2 1236 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1) 189 all_cancers(10;4.66e-07)|Prostate(122;0.081) TCTGGGAGATCGCACGAGACT 0.612000 34 63 0 0 1 0 0 MTTP 4547 broad.mit.edu 37 4 100503146 100503146 + Missense_Mutation SNP G G A rs145545828 byFrequency TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:100503146G>A ENST00000457717.1 + 3 402 c.146G>A c.(145-147)gGa>gAa p.G49E MTTP_ENST00000265517.5_Missense_Mutation_p.G49E|MTTP_ENST00000511045.1_Missense_Mutation_p.G76E|MTTP_ENST00000422897.2_Missense_Mutation_p.G49E NM_000253.2 NP_000244.2 P55157 MTP_HUMAN microsomal triglyceride transfer protein 49 Vitellogenin. lipid metabolic process|lipoprotein metabolic process endoplasmic reticulum lumen lipid binding|lipid transporter activity p.G49V(1) breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1) 57 OV - Ovarian serous cystadenocarcinoma(123;6.04e-09) Hesperetin(DB01094) CGGGGCAAAGGAAAACTGCAA 0.463000 55 84 0 0 1 0 0 HYDIN 54768 broad.mit.edu 37 16 70935101 70935101 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr16:70935101C>T ENST00000393567.2 - 53 9004 c.8854G>A c.(8854-8856)Gaa>Aaa p.E2952K NM_001270974.1 NP_001257903.1 Q4G0P3 HYDIN_HUMAN HYDIN, axonemal central pair apparatus protein 2952 breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 43 Ovarian(137;0.0654) ACCCTGGATTCCTGTCTGCAG 0.438000 5 45 0 0 1 0 0 TRPV4 59341 broad.mit.edu 37 12 110252252 110252252 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:110252252G>A ENST00000418703.2 - 1 444 c.350C>T c.(349-351)tCc>tTc p.S117F TRPV4_ENST00000261740.2_Missense_Mutation_p.S117F|TRPV4_ENST00000346520.2_Missense_Mutation_p.S117F|TRPV4_ENST00000541794.1_Missense_Mutation_p.S117F|TRPV4_ENST00000537083.1_Missense_Mutation_p.S117F|TRPV4_ENST00000544971.1_Missense_Mutation_p.S117F|TRPV4_ENST00000536838.1_Missense_Mutation_p.S83F|TRPV4_ENST00000392719.2_Missense_Mutation_p.S117F NM_001177431.1 NP_001170902.1 Q9HBA0 TRPV4_HUMAN transient receptor potential cation channel, subfamily V, member 4 117 actin cytoskeleton reorganization|actin filament organization|calcium ion import|cell death|cell volume homeostasis|cell-cell junction assembly|cellular hypotonic response|cortical microtubule organization|elevation of cytosolic calcium ion concentration|microtubule polymerization|negative regulation of neuron projection development|osmosensory signaling pathway|positive regulation of microtubule depolymerization|response to mechanical stimulus cortical actin cytoskeleton|filopodium|focal adhesion|growth cone|integral to membrane|lamellipodium|ruffle membrane actin filament binding|alpha-tubulin binding|beta-tubulin binding|calcium channel activity|calmodulin binding|microtubule binding|protein binding|protein kinase C binding|SH2 domain binding breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1) 35 GTTGTCACTGGAGTGGTGACG 0.517000 16 32 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179438274 179438274 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:179438274G>A ENST00000589042.1 - 326 72809 c.72585C>T c.(72583-72585)ttC>ttT p.F24195F TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Silent_p.F15255F|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Silent_p.F22554F|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Silent_p.F21627F|TTN_ENST00000460472.2_Silent_p.F15130F|TTN_ENST00000342175.6_Silent_p.F15322F|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 22554 Ig-like 121. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) CCATGACACGGAATATGTATT 0.453000 109 238 0 0 1 0 0 MYH7B 57644 broad.mit.edu 37 20 33586527 33586527 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr20:33586527G>A ENST00000262873.7 + 33 4217 c.4125G>A c.(4123-4125)aaG>aaA p.K1375K NM_020884.3 NP_065935.2 A7E2Y1 MYH7B_HUMAN myosin, heavy chain 7B, cardiac muscle, beta 1333 membrane|myosin filament actin binding|ATP binding|motor activity NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3) 54 BRCA - Breast invasive adenocarcinoma(18;0.00691) TGCAGGCCAAGAGTGCCCTGG 0.682000 11 20 0 0 1 0 0 OBSCN 84033 broad.mit.edu 37 1 228402588 228402588 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:228402588G>A ENST00000570156.2 + 5 1691 c.1617G>A c.(1615-1617)ggG>ggA p.G539G OBSCN_ENST00000284548.11_Silent_p.G539G|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000422127.1_Silent_p.G539G NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 539 Fibronectin type-III 1. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) CACCCCATGGGGAACGCCCTG 0.602000 28 31 0 0 1 0 0 SLC2A10 81031 broad.mit.edu 37 20 45354539 45354539 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr20:45354539G>A ENST00000359271.2 + 2 1114 c.864G>A c.(862-864)atG>atA p.M288I NM_030777.3 NP_110404.1 O95528 GTR10_HUMAN solute carrier family 2 (facilitated glucose transporter), member 10 288 endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane D-glucose transmembrane transporter activity|sugar:hydrogen symporter activity central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1) 34 Myeloproliferative disorder(115;0.0122) TGACCGCCATGGGGCTGGTGG 0.652000 64 133 0 0 1 0 0 CTTNBP2NL 55917 broad.mit.edu 37 1 112999864 112999864 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:112999864C>T ENST00000271277.6 + 6 1975 c.1750C>T c.(1750-1752)Ccc>Tcc p.P584S CTTNBP2NL_ENST00000607039.1_3'UTR|RP4-671G15.3_ENST00000508462.1_RNA NM_018704.2 NP_061174.1 Q9P2B4 CT2NL_HUMAN CTTNBP2 N-terminal like 584 actin cytoskeleton protein binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1) 29 all_cancers(81;0.00064)|all_epithelial(167;0.000415)|all_lung(203;0.00045)|Lung NSC(69;0.000705) Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) ACCCATCCCACCCAAGAAACC 0.567000 46 86 0 0 1 0 0 DNAH1 25981 broad.mit.edu 37 3 52412782 52412782 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:52412782C>T ENST00000420323.2 + 47 7624 c.7363C>T c.(7363-7365)Ccg>Tcg p.P2455S NM_015512.4 NP_056327.4 Q9P2D7 DYH1_HUMAN dynein, axonemal, heavy chain 1 2455 ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1) 62 BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) CATGGCTGACCCGGCCAAGGT 0.627000 31 121 0 0 1 0 0 SPZ1 84654 broad.mit.edu 37 5 79616165 79616165 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:79616165C>T ENST00000296739.4 + 1 376 c.131C>T c.(130-132)cCt>cTt p.P44L NM_032567.3 NP_115956.3 Q9BXG8 SPZ1_HUMAN spermatogenic leucine zipper 1 44 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding endometrium(2)|kidney(5)|large_intestine(4)|lung(12)|ovary(1)|skin(2) 26 Lung NSC(167;0.0393)|all_lung(232;0.0428)|Ovarian(174;0.113) OV - Ovarian serous cystadenocarcinoma(54;3.43e-47)|Epithelial(54;2.25e-41)|all cancers(79;4.19e-36) TCACATTCCCCTTCCTCCTGG 0.423000 84 146 0 0 1 0 0 PRUNE2 158471 broad.mit.edu 37 9 79319928 79319928 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:79319928G>A ENST00000428286.1 - 8 7385 c.6185C>T c.(6184-6186)tCt>tTt p.S2062F PRUNE2_ENST00000376718.3_Missense_Mutation_p.S2421F Q8WUY3 PRUN2_HUMAN prune homolog 2 (Drosophila) 2421 apoptosis|G1 phase|induction of apoptosis cytoplasm metal ion binding|pyrophosphatase activity endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1) 16 GCATCCCAGAGATTCATCCTC 0.512000 OREG0019258 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 19 39 0 0 1 0 0 CD300C 10871 broad.mit.edu 37 17 72540805 72540805 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:72540805G>A ENST00000330793.1 - 2 703 c.343C>T c.(343-345)Ccg>Tcg p.P115S NM_006678.3 NP_006669.1 Q08708 CLM6_HUMAN CD300c molecule 115 Ig-like V-type. cellular defense response integral to plasma membrane transmembrane receptor activity endometrium(2)|kidney(1)|large_intestine(4)|lung(11)|skin(2)|upper_aerodigestive_tract(1) 21 CGGAGCCACGGTGTATCCACC 0.582000 33 112 0 0 1 0 0 MRPL30 51263 broad.mit.edu 37 2 99812067 99812067 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:99812067C>T ENST00000338148.3 + 6 583 c.385C>T c.(385-387)Cca>Tca p.P129S C2orf15_ENST00000512183.2_Missense_Mutation_p.P129S|MRPL30_ENST00000465432.1_3'UTR NM_145212.3 NP_660213.1 Q8TCC3 RM30_HUMAN mitochondrial ribosomal protein L30 129 translation mitochondrion|ribosome structural constituent of ribosome breast(1)|endometrium(1)|kidney(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 10 ACAAGGACTTCCAGCAGAGGA 0.473000 90 171 0 0 1 0 0 MAST4 375449 broad.mit.edu 37 5 66462496 66462496 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:66462496C>T ENST00000404260.3 + 29 7806 c.7498C>T c.(7498-7500)Ccc>Tcc p.P2500S MAST4_ENST00000403625.2_Missense_Mutation_p.P2497S|MAST4_ENST00000405643.1_Missense_Mutation_p.P2318S|MAST4_ENST00000403666.1_Missense_Mutation_p.P2308S|MAST4_ENST00000261569.7_Missense_Mutation_p.P2303S O15021 MAST4_HUMAN microtubule associated serine/threonine kinase family member 4 2500 cytoplasm ATP binding|magnesium ion binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2) 13 Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245) Lung(70;0.011) GCTTCCAGCCCCCAGCAACAG 0.657000 OREG0016638 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 11 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179632562 179632562 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:179632562C>T ENST00000589042.1 - 40 9619 c.9395G>A c.(9394-9396)gGa>gAa p.G3132E TTN_ENST00000359218.5_Missense_Mutation_p.G3086E|TTN_ENST00000591111.1_Missense_Mutation_p.G3132E|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G3132E|TTN_ENST00000460472.2_Missense_Mutation_p.G3086E|TTN_ENST00000342175.6_Missense_Mutation_p.G3086E|TTN_ENST00000360870.5_Missense_Mutation_p.G3132E NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 2869 Ig-like 18. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) CACGTTGCCTCCTGCCACCAC 0.438000 55 91 0 0 1 0 0 NBEA 26960 broad.mit.edu 37 13 36223953 36223953 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr13:36223953C>T ENST00000540320.1 + 51 8403 c.7869C>T c.(7867-7869)ctC>ctT p.L2623L NBEA_ENST00000379922.3_Silent_p.L201L|NBEA_ENST00000310336.4_Silent_p.L2623L|NBEA_ENST00000537702.1_Silent_p.L416L|NBEA_ENST00000379939.2_Silent_p.L2620L|NBEA_ENST00000400445.3_Silent_p.L2623L Q8NFP9 NBEA_HUMAN neurobeachin 2623 cytosol|endomembrane system|plasma membrane|trans-Golgi network protein binding NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 108 Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207) all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199) GCAGCCGACTCTTTGCAGTGA 0.443000 34 65 0 0 1 0 0 CATSPERD 257062 broad.mit.edu 37 19 5745973 5745973 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:5745973C>T ENST00000381624.3 + 9 768 c.707C>T c.(706-708)tCt>tTt p.S236F CATSPERD_ENST00000381614.2_5'UTR NM_152784.3 NP_689997.3 Q86XM0 TM146_HUMAN catsper channel auxiliary subunit delta 236 integral to membrane TTCGGGCTGTCTTTTGACTAT 0.517000 117 254 0 0 1 0 0 NLRC3 197358 broad.mit.edu 37 16 3611756 3611756 + RNA SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr16:3611756C>T ENST00000301749.7 - 0 2367 NLRC3_ENST00000359128.5_RNA|NLRC3_ENST00000603507.1_RNA|NLRC3_ENST00000448023.2_RNA|NLRC3_ENST00000419350.2_RNA NM_178844.2 NP_849172.2 Q7RTR2 NLRC3_HUMAN NLR family, CARD domain containing 3 I-kappaB kinase/NF-kappaB cascade|negative regulation of NF-kappaB transcription factor activity|T cell activation cytoplasm ATP binding breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 CCAGCAGCTCCATCACGGGGT 0.652000 37 85 0 0 1 0 0 SLC27A2 11001 broad.mit.edu 37 15 50474971 50474971 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr15:50474971C>T ENST00000267842.5 + 1 579 c.347C>T c.(346-348)gCc>gTc p.A116V SLC27A2_ENST00000380902.4_Missense_Mutation_p.A116V NM_003645.3 NP_003636.2 O14975 S27A2_HUMAN solute carrier family 27 (fatty acid transporter), member 2 116 bile acid biosynthetic process|fatty acid alpha-oxidation endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane ATP binding|long-chain fatty acid-CoA ligase activity|phytanate-CoA ligase activity|pristanate-CoA ligase activity NS(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 all_lung(180;0.00177) all cancers(107;1.16e-06)|GBM - Glioblastoma multiforme(94;0.000113) AACGAGCCGGCCTACGTGTGG 0.662000 86 144 0 0 1 0 0 RABEP2 79874 broad.mit.edu 37 16 28926071 28926071 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr16:28926071G>A ENST00000358201.4 - 4 1053 c.465C>T c.(463-465)atC>atT p.I155I RABEP2_ENST00000544477.1_Silent_p.I84I|RABEP2_ENST00000357573.6_Silent_p.I155I NM_024816.2 NP_079092.2 Q9H5N1 RABE2_HUMAN rabaptin, RAB GTPase binding effector protein 2 155 endocytosis|protein transport early endosome growth factor activity|GTPase activator activity breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1) 16 TGGGCAGTACGATCTCCCGCA 0.632000 83 144 0 0 1 0 0 OR5AK2 390181 broad.mit.edu 37 11 56756775 56756775 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:56756775C>T ENST00000326855.2 + 1 429 c.387C>T c.(385-387)ccC>ccT p.P129P NM_001005323.1 NP_001005323.1 Q8NH90 O5AK2_HUMAN olfactory receptor, family 5, subfamily AK, member 2 129 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(3)|endometrium(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 21 TCTGTAAGCCCCTTCACTATA 0.428000 44 93 0 0 1 0 0 OR2W1 26692 broad.mit.edu 37 6 29012884 29012884 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:29012884C>T ENST00000377175.1 - 1 133 c.69G>A c.(67-69)atG>atA p.M23I NM_030903.3 NP_112165.1 Q9Y3N9 OR2W1_HUMAN olfactory receptor, family 2, subfamily W, member 1 23 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|skin(1) 23 GGATCATCTCCATTTTTGGAT 0.403000 53 125 0 0 1 0 0 CD97 976 broad.mit.edu 37 19 14512364 14512364 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:14512364C>T ENST00000242786.5 + 10 1144 c.1064C>T c.(1063-1065)cCt>cTt p.P355L CD97_ENST00000357355.3_Missense_Mutation_p.P306L|CD97_ENST00000358600.3_Missense_Mutation_p.P262L NM_078481.3 NP_510966.1 P48960 CD97_HUMAN CD97 molecule 355 cell adhesion|cell-cell signaling|cellular component movement|immune response|inflammatory response|neuropeptide signaling pathway extracellular space|integral to plasma membrane calcium ion binding|G-protein coupled receptor activity|protein binding breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 30 TACATTTCCCCTTCGAACACA 0.607000 7 89 0 0 1 0 0 SHANK2 22941 broad.mit.edu 37 11 70333366 70333366 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:70333366C>T ENST00000338508.4 - 32 3034 c.3035G>A c.(3034-3036)gGg>gAg p.G1012E SHANK2_ENST00000423696.2_Missense_Mutation_p.G632E|SHANK2_ENST00000409161.1_Missense_Mutation_p.G415E|SHANK2_ENST00000449833.2_Missense_Mutation_p.G416E Q9UPX8 SHAN2_HUMAN SH3 and multiple ankyrin repeat domains 2 632 intracellular signal transduction cell junction|cytoplasm|postsynaptic density|postsynaptic membrane GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 62 LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071) CACCAGCATCCCCTTCCGCCT 0.617000 90 197 0 0 1 0 0 SEMG1 6406 broad.mit.edu 37 20 43836084 43836084 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr20:43836084C>T ENST00000372781.3 + 2 203 c.146C>T c.(145-147)tCt>tTt p.S49F SEMG1_ENST00000244069.6_Missense_Mutation_p.S49F NM_003007.3 NP_002998.1 semenogelin I cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1) 32 Myeloproliferative disorder(115;0.0122) CAGCACTATTCTGGACAAAAA 0.398000 69 124 0 0 1 0 0 SNED1 25992 broad.mit.edu 37 2 241992720 241992720 + Nonsense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:241992720G>A ENST00000310397.8 + 16 2234 c.2234G>A c.(2233-2235)tGg>tAg p.W745* SNED1_ENST00000342631.6_Nonsense_Mutation_p.W745*|SNED1_ENST00000401884.1_Nonsense_Mutation_p.W745*|SNED1_ENST00000405547.3_Nonsense_Mutation_p.W745*|AC005237.4_ENST00000458377.1_RNA|SNED1_ENST00000469006.1_3'UTR NM_001080437.1 NP_001073906.1 Q8TER0 SNED1_HUMAN sushi, nidogen and EGF-like domains 1 745 Sushi. cell-matrix adhesion extracellular region calcium ion binding NS(1)|breast(1)|central_nervous_system(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1) 24 all_cancers(19;7.48e-31)|all_epithelial(40;1.35e-12)|Breast(86;0.000148)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238) Epithelial(32;6.46e-32)|all cancers(36;6.23e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.1e-14)|Kidney(56;6.35e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.98e-08)|BRCA - Breast invasive adenocarcinoma(100;3.66e-06)|Lung(119;0.00072)|LUSC - Lung squamous cell carcinoma(224;0.00553)|Colorectal(34;0.0162)|COAD - Colon adenocarcinoma(134;0.109) CACGGTGTCTGGAGTGAGCCT 0.687000 42 77 0 0 1 0 0 OR2M3 127062 broad.mit.edu 37 1 248367169 248367169 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:248367169C>T ENST00000456743.1 + 1 838 c.800C>T c.(799-801)tCc>tTc p.S267F NM_001004689.1 NP_001004689.1 Q8NG83 OR2M3_HUMAN olfactory receptor, family 2, subfamily M, member 3 267 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 50 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0245) TCTGATCGCTCCCCAACACAG 0.502000 132 182 0 0 1 0 0 FNDC4 64838 broad.mit.edu 37 2 27716873 27716873 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:27716873C>T ENST00000264703.3 - 4 769 c.378G>A c.(376-378)gaG>gaA p.E126E NM_022823.2 NP_073734.1 Q9H6D8 FNDC4_HUMAN fibronectin type III domain containing 4 126 Fibronectin type-III. integral to membrane NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|prostate(1)|skin(1) 9 Acute lymphoblastic leukemia(172;0.155) CTGGGGGACTCTCTCCCCGAA 0.607000 49 105 0 0 1 0 0 LILRB4 11006 broad.mit.edu 37 19 55176600 55176600 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:55176600C>T ENST00000391736.1 + 8 1041 c.726C>T c.(724-726)ccC>ccT p.P242P LILRB4_ENST00000391733.3_Silent_p.P242P|LILRB4_ENST00000430952.2_Silent_p.P242P|LILRB4_ENST00000391734.3_Silent_p.P242P|LILRB4_ENST00000270452.2_Silent_p.P242P NM_001278426.2|NM_001278428.2|NM_001278429.2|NM_001278430.2 NP_001265355.1|NP_001265357.1|NP_001265358.1|NP_001265359.1 Q8NHJ6 LIRB4_HUMAN leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4 242 integral to membrane|plasma membrane antigen binding|receptor activity breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(20)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(3) 39 GBM - Glioblastoma multiforme(193;0.035) AGGACCAGCCCCTCATGCCTA 0.642000 7 16 0 0 1 0 0 FKBP9 11328 broad.mit.edu 37 7 33016078 33016078 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:33016078C>T ENST00000242209.4 + 4 839 c.670C>T c.(670-672)Cct>Tct p.P224S FKBP9_ENST00000489038.1_3'UTR|AVL9_ENST00000404479.1_Intron|FKBP9_ENST00000538336.1_Missense_Mutation_p.P277S|FKBP9_ENST00000538443.1_Missense_Mutation_p.P86S NM_007270.3 NP_009201.2 O95302 FKBP9_HUMAN FK506 binding protein 9, 63 kDa 224 PPIase FKBP-type 2. protein folding endoplasmic reticulum|membrane calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity central_nervous_system(13)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1) 39 GBM - Glioblastoma multiforme(11;0.0156) CATCACCATTCCTCCTTTTCT 0.473000 7 106 0 0 1 0 0 PDE6B 5158 broad.mit.edu 37 4 661768 661768 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:661768G>A ENST00000255622.6 + 21 2519 c.2476G>A c.(2476-2478)Gag>Aag p.E826K PDE6B_ENST00000496514.1_Missense_Mutation_p.E826K|PDE6B_ENST00000429163.2_Missense_Mutation_p.E547K NM_000283.3|NM_001145291.1 NP_000274.2|NP_001138763.1 P35913 PDE6B_HUMAN phosphodiesterase 6B, cGMP-specific, rod, beta 826 cytosolic calcium ion homeostasis|GMP metabolic process|phototransduction, visible light|platelet activation|visual perception cytosol|membrane 3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1) 30 GGAGAAGGAGGAGGAGGAGAG 0.567000 26 101 0 0 1 0 0 BCORL1 63035 broad.mit.edu 37 X 129147563 129147563 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chrX:129147563C>T ENST00000540052.1 + 3 859 c.815C>T c.(814-816)tCg>tTg p.S272L BCORL1_ENST00000218147.7_Missense_Mutation_p.S272L|BCORL1_ENST00000303743.5_Missense_Mutation_p.S272L|BCORL1_ENST00000359304.2_Missense_Mutation_p.S272L NM_021946.4 NP_068765.3 Q5H9F3 BCORL_HUMAN BCL6 corepressor-like 1 272 Pro-rich. chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 75 ATCTCTGACTCGAACCCCCTT 0.637000 77 41 0 0 1 0 0 RBM12 10137 broad.mit.edu 37 20 34242392 34242392 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr20:34242392G>A ENST00000374114.3 - 3 1116 c.853C>T c.(853-855)Cct>Tct p.P285S CPNE1_ENST00000352393.4_Intron|CPNE1_ENST00000397442.1_Intron|CPNE1_ENST00000317619.3_Intron|RBM12_ENST00000359646.1_Missense_Mutation_p.P285S|RBM12_ENST00000374104.3_Missense_Mutation_p.P285S|CPNE1_ENST00000397443.1_Intron|CPNE1_ENST00000397445.1_Intron|CPNE1_ENST00000397446.1_Intron NM_001198838.1|NM_001198840.1|NM_006047.5 NP_001185767.1|NP_001185769.1|NP_006038.2 Q9NTZ6 RBM12_HUMAN RNA binding motif protein 12 285 Pro-rich. nucleus nucleotide binding|protein binding|RNA binding breast(3)|endometrium(7)|kidney(1)|large_intestine(3)|lung(14)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 36 Lung NSC(9;0.00608)|all_lung(11;0.00918) BRCA - Breast invasive adenocarcinoma(18;0.00953) ATCTGGATAGGGTTAACAGGA 0.453000 43 91 0 0 1 0 0 SVEP1 79987 broad.mit.edu 37 9 113192632 113192632 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:113192632C>T ENST00000401783.2 - 33 5788 c.5452G>A c.(5452-5454)Gga>Aga p.G1818R SVEP1_ENST00000374469.1_Missense_Mutation_p.G1795R NM_153366.3 NP_699197.3 Q4LDE5 SVEP1_HUMAN sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 1818 Sushi 7. cell adhesion cytoplasm|extracellular region|membrane calcium ion binding NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4) 147 AACTGGTATCCTTCCTGACAC 0.398000 15 28 0 0 1 0 0 RNF141 50862 broad.mit.edu 37 11 10555689 10555689 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:10555689G>A ENST00000265981.2 - 2 159 c.17C>T c.(16-18)tCg>tTg p.S6L RNF141_ENST00000528665.1_Missense_Mutation_p.S6L NM_016422.3 NP_057506.2 Q8WVD5 RN141_HUMAN ring finger protein 141 6 zinc ion binding breast(1)|endometrium(2)|large_intestine(2)|lung(3)|urinary_tract(1) 9 all cancers(16;4.63e-08)|Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.064) TGTCTGATCCGAAATTTGCTG 0.338000 52 48 0 0 1 0 0 WHSC1 7468 broad.mit.edu 37 4 1905991 1905991 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:1905991C>T ENST00000503128.1 + 3 853 c.646C>T c.(646-648)Cac>Tac p.H216Y WHSC1_ENST00000436793.1_Missense_Mutation_p.H216Y|WHSC1_ENST00000382895.3_Missense_Mutation_p.H216Y|WHSC1_ENST00000398261.1_Missense_Mutation_p.H216Y|WHSC1_ENST00000382892.2_Missense_Mutation_p.H216Y|WHSC1_ENST00000514045.1_Missense_Mutation_p.H216Y|WHSC1_ENST00000382891.5_Missense_Mutation_p.H216Y|WHSC1_ENST00000420906.2_Missense_Mutation_p.H216Y|WHSC1_ENST00000508803.1_Missense_Mutation_p.H216Y O96028 NSD2_HUMAN Wolf-Hirschhorn syndrome candidate 1 216 anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|cytoplasm|nuclear membrane|nucleolus DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3) 48 all_epithelial(65;1.34e-05) OV - Ovarian serous cystadenocarcinoma(23;0.00606) STAD - Stomach adenocarcinoma(129;0.232) AGACAAAGACCACCTGTTGAA 0.448000 T IGH@ MM 39 90 0 0 1 0 0 MR1 3140 broad.mit.edu 37 1 181019241 181019241 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:181019241C>T ENST00000367580.5 + 3 428 c.423C>T c.(421-423)ttC>ttT p.F141F MR1_ENST00000434571.2_Silent_p.F141F|MR1_ENST00000438435.2_3'UTR|MR1_ENST00000282990.6_Silent_p.F141F|MR1_ENST00000367579.3_Intron NM_001531.2 NP_001522.1 Q95460 HMR1_HUMAN major histocompatibility complex, class I-related 141 Alpha-2.|Ligand-binding. antigen processing and presentation of peptide antigen via MHC class I|immune response endoplasmic reticulum|extracellular region|integral to membrane|MHC class I protein complex MHC class I receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1) 18 GGCAGGATTTCCTGATCTTCA 0.502000 25 115 0 0 1 0 0 PRSS1 5644 broad.mit.edu 37 7 142459700 142459700 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:142459700G>A ENST00000486171.1 + 4 335 c.318G>A c.(316-318)aaG>aaA p.K106K PRSS1_ENST00000311737.7_Silent_p.K92K P07477 TRY1_HUMAN protease, serine, 1 (trypsin 1) 92 Peptidase S1. digestion|proteolysis extracellular space metal ion binding|protein binding|serine-type endopeptidase activity central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2) 38 Melanoma(164;0.047) all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165) all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189) ATGCAGCCAAGATCATCCGCC 0.542000 120 341 0 0 1 0 0 SOX30 11063 broad.mit.edu 37 5 157053357 157053357 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:157053357C>T ENST00000265007.6 - 5 2594 c.2253G>A c.(2251-2253)agG>agA p.R751R SOX30_ENST00000519442.1_Silent_p.R446R|SOX30_ENST00000311371.5_3'UTR NM_178424.1 NP_848511.1 O94993 SOX30_HUMAN SRY (sex determining region Y)-box 30 751 regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|response to corticosteroid stimulus|transcription, DNA-dependent nucleus sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1) 23 Renal(175;0.00488) Medulloblastoma(196;0.0354)|all_neural(177;0.138) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) ATTATAAATCCCTGAGCACTT 0.368000 19 90 0 0 1 0 0 COL2A1 1280 broad.mit.edu 37 12 48380878 48380878 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:48380878C>T ENST00000380518.3 - 21 1512 c.1348G>A c.(1348-1350)Ggc>Agc p.G450S COL2A1_ENST00000337299.6_Missense_Mutation_p.G381S|COL2A1_ENST00000493991.1_5'UTR NM_001844.4|NM_033150.2 NP_001835.3|NP_149162.2 P02458 CO2A1_HUMAN collagen, type II, alpha 1 450 Triple-helical region. axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception collagen type II identical protein binding|platelet-derived growth factor binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3) 64 Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214) Collagenase(DB00048) CCTTTCGGGCCCAGAGGACCA 0.612000 44 108 0 0 1 0 0 MKX 283078 broad.mit.edu 37 10 28024273 28024273 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:28024273G>A ENST00000375790.5 - 4 811 c.379C>T c.(379-381)Cgg>Tgg p.R127W MKX_ENST00000419761.1_Missense_Mutation_p.R127W Q8IYA7 MKX_HUMAN mohawk homeobox 127 muscle organ development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)|skin(2) 16 TTCTTAAGCCGACGTCTTGCA 0.353000 38 101 0 0 1 0 0 JARID2 3720 broad.mit.edu 37 6 15374375 15374375 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:15374375G>A ENST00000341776.2 + 2 317 c.73G>A c.(73-75)Gaa>Aaa p.E25K JARID2_ENST00000397311.3_5'UTR NM_004973.3 NP_004964.2 Q92833 JARD2_HUMAN jumonji, AT rich interactive domain 2 25 central nervous system development|chromatin modification|negative regulation of histone methylation|positive regulation of histone H3-K9 methylation|stem cell differentiation|transcription, DNA-dependent chromatin binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1) 59 Breast(50;0.0142)|Ovarian(93;0.103) all_hematologic(90;0.00612) TCCGTGGTCAGAAGAACGGGT 0.428000 89 297 0 0 1 0 0 VWF 7450 broad.mit.edu 37 12 6161810 6161810 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:6161810C>T ENST00000261405.5 - 16 2339 c.2085G>A c.(2083-2085)atG>atA p.M695I NM_000552.3 NP_000543.2 P04275 VWF_HUMAN von Willebrand factor 695 TIL 2. blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5) 129 Antihemophilic Factor(DB00025) CCCTCTCATCCATGTAGAGCC 0.597000 14 98 0 0 1 0 0 OR5J2 282775 broad.mit.edu 37 11 55944750 55944750 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:55944750C>T ENST00000312298.1 + 1 657 c.657C>T c.(655-657)atC>atT p.I219I NM_001005492.1 NP_001005492.1 Q8NH18 OR5J2_HUMAN olfactory receptor, family 5, subfamily J, member 2 219 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1) 44 Esophageal squamous(21;0.00693) TTTCCTACATCTTCATTGCTT 0.483000 39 90 0 0 1 0 0 CRNN 49860 broad.mit.edu 37 1 152383251 152383251 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:152383251C>T ENST00000271835.3 - 3 369 c.307G>A c.(307-309)Gga>Aga p.G103R RP1-91G5.3_ENST00000411804.1_RNA NM_016190.2 NP_057274.1 Q9UBG3 CRNN_HUMAN cornulin 103 cell-cell adhesion|response to heat cytoplasm|membrane calcium ion binding breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 35 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) TGGAGGCTTCCAGACTCTTGA 0.572000 245 285 0 0 1 0 0 KCNH3 23416 broad.mit.edu 37 12 49950203 49950203 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:49950203C>T ENST00000257981.6 + 13 2779 c.2519C>T c.(2518-2520)tCt>tTt p.S840F NM_012284.1 NP_036416.1 Q9ULD8 KCNH3_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 3 840 regulation of transcription, DNA-dependent integral to membrane two-component sensor activity|voltage-gated potassium channel activity NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 36 CCCAAGTTCTCTTTCCGCGTG 0.612000 63 114 0 0 1 0 0 OR9G4 283189 broad.mit.edu 37 11 56511057 56511057 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:56511057G>A ENST00000302957.3 - 1 230 c.231C>T c.(229-231)ttC>ttT p.F77F NM_001005284.1 NP_001005284.1 Q8NGQ1 OR9G4_HUMAN olfactory receptor, family 9, subfamily G, member 4 77 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 34 GATTGCCAATGAAAAAGTACA 0.413000 39 59 0 0 1 0 0 MAGEC1 9947 broad.mit.edu 37 X 140994903 140994903 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chrX:140994903G>A ENST00000285879.4 + 4 1999 c.1713G>A c.(1711-1713)ggG>ggA p.G571G MAGEC1_ENST00000406005.2_Intron NM_005462.4 NP_005453.2 O60732 MAGC1_HUMAN melanoma antigen family C, 1 571 protein binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1) 127 Acute lymphoblastic leukemia(192;6.56e-05) CTCCTCAGGGGGAGGACTCCC 0.597000 HNSCC(15;0.026) 158 188 0 0 1 0 0 THSD7B 80731 broad.mit.edu 37 2 138400083 138400083 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:138400083C>T ENST00000409968.1 + 21 4003 c.3825C>T c.(3823-3825)atC>atT p.I1275I THSD7B_ENST00000272643.3_Silent_p.I1278I|THSD7B_ENST00000413152.2_Silent_p.I1247I|THSD7B_ENST00000543459.1_Intron thrombospondin, type I, domain containing 7B NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 134 BRCA - Breast invasive adenocarcinoma(221;0.19) CTCGATTTATCATTATGCCAA 0.512000 46 80 0 0 1 0 0 IDO2 169355 broad.mit.edu 37 8 39872860 39872860 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:39872860C>T ENST00000502986.2 + 11 1244 c.1002C>T c.(1000-1002)atC>atT p.I334I IDO2_ENST00000343295.4_3'UTR|IDO2_ENST00000389060.4_Silent_p.I321I NM_194294.2 NP_919270.2 Q6ZQW0 I23O2_HUMAN indoleamine 2,3-dioxygenase 2 321 tryptophan catabolic process to kynurenine cytosol heme binding|indoleamine 2,3-dioxygenase activity|tryptophan 2,3-dioxygenase activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(2)|upper_aerodigestive_tract(1) 18 GGGACTACATCCTGTCATCTG 0.507000 27 63 0 0 1 0 0 HSD17B3 3293 broad.mit.edu 37 9 99013735 99013735 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:99013735G>A ENST00000375263.3 - 5 465 c.418C>T c.(418-420)Cca>Tca p.P140S HSD17B3_ENST00000375262.2_Missense_Mutation_p.P140S NM_000197.1 NP_000188.1 P37058 DHB3_HUMAN hydroxysteroid (17-beta) dehydrogenase 3 140 androgen biosynthetic process|male genitalia development endoplasmic reticulum membrane|microsome binding|testosterone 17-beta-dehydrogenase (NAD+) activity|testosterone 17-beta-dehydrogenase (NADP+) activity breast(1)|endometrium(3)|large_intestine(2)|lung(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 13 Acute lymphoblastic leukemia(62;0.0171)|all_hematologic(171;0.214) NADH(DB00157) AAATGGCTTGGGAGAAGGTTT 0.463000 5 87 0 0 1 0 0 PIEZO2 63895 broad.mit.edu 37 18 10696169 10696169 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr18:10696169G>A ENST00000302079.6 - 43 6753 c.6754C>T c.(6754-6756)Ctc>Ttc p.L2252F PIEZO2_ENST00000285141.4_Missense_Mutation_p.L107F|PIEZO2_ENST00000580640.1_Missense_Mutation_p.L2277F|PIEZO2_ENST00000538948.1_Missense_Mutation_p.L209F|PIEZO2_ENST00000503781.3_Missense_Mutation_p.L2252F Q9H5I5 PIEZ2_HUMAN piezo-type mechanosensitive ion channel component 2 2252 integral to membrane ion channel activity GTCTTCCTGAGGTAGAGGGCT 0.507000 51 91 0 0 1 0 0 ATP2B1 490 broad.mit.edu 37 12 90024356 90024356 + Missense_Mutation SNP C C G TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:90024356C>G ENST00000428670.3 - 6 1310 c.854G>C c.(853-855)gGa>gCa p.G285A ATP2B1_ENST00000261173.2_Missense_Mutation_p.G285A|ATP2B1_ENST00000393164.2_Missense_Mutation_p.G28A|ATP2B1_ENST00000348959.3_Missense_Mutation_p.G285A|ATP2B1_ENST00000359142.3_Missense_Mutation_p.G285A P20020 AT2B1_HUMAN ATPase, Ca++ transporting, plasma membrane 1 285 ATP biosynthetic process|platelet activation integral to plasma membrane ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1) 45 AAAGATAATTCCAGTTTGAGA 0.323000 25 49 0 0 1 0 0 MYH13 8735 broad.mit.edu 37 17 10243469 10243469 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:10243469G>A ENST00000418404.3 - 17 2217 c.2054C>T c.(2053-2055)cCt>cTt p.P685L MYH13_ENST00000252172.4_Missense_Mutation_p.P685L|MYH13_ENST00000570743.1_Missense_Mutation_p.P685L|RP11-401O9.3_ENST00000577743.1_RNA Q9UKX3 MYH13_HUMAN myosin, heavy chain 13, skeletal muscle 685 Myosin head-like. muscle contraction muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|microfilament motor activity breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2) 108 GTACTCACCAGGAGTCTTGGT 0.438000 9 11 0 0 1 0 0 PLD3 23646 broad.mit.edu 37 19 40872703 40872703 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:40872703C>T ENST00000409587.1 + 5 523 c.126C>T c.(124-126)gtC>gtT p.V42V PLD3_ENST00000409281.1_Silent_p.V42V|PLD3_ENST00000356508.5_Silent_p.V42V|PLD3_ENST00000409419.1_Silent_p.V42V|PLD3_ENST00000409735.4_Silent_p.V42V Q8IV08 PLD3_HUMAN phospholipase D family, member 3 42 lipid catabolic process endoplasmic reticulum membrane|integral to membrane NAPE-specific phospholipase D activity|phospholipase D activity|protein binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 20 Lung(22;0.000636)|LUSC - Lung squamous cell carcinoma(20;0.00248) TCCTGCTGGTCCTCATTCTGG 0.647000 44 100 0 0 1 0 0 MORC1 27136 broad.mit.edu 37 3 108782021 108782021 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:108782021C>T ENST00000232603.5 - 10 955 c.873G>A c.(871-873)aaG>aaA p.K291K MORC1_ENST00000483760.1_Silent_p.K291K NM_014429.3 NP_055244.3 Q86VD1 MORC1_HUMAN MORC family CW-type zinc finger 1 291 cell differentiation|multicellular organismal development|spermatogenesis nucleus ATP binding|zinc ion binding breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3) 105 CTTCTTCTGCCTTTTTAACTT 0.318000 4 135 0 0 1 0 0 CD2 914 broad.mit.edu 37 1 117303151 117303151 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:117303151G>A ENST00000369478.3 + 3 618 c.510G>A c.(508-510)agG>agA p.R170R NM_001767.3 NP_001758.2 P06729 CD2_HUMAN CD2 molecule 170 Ig-like C2-type. blood coagulation|cell surface receptor linked signaling pathway|cell-cell adhesion|induction of apoptosis|leukocyte migration|membrane raft polarization|natural killer cell activation|positive regulation of myeloid dendritic cell activation|regulation of T cell differentiation|T cell activation integral to plasma membrane receptor activity NS(1)|breast(2)|large_intestine(3)|liver(1)|lung(8)|skin(2)|stomach(1) 18 Lung SC(450;0.225) all_cancers(81;3.15e-06)|Acute lymphoblastic leukemia(138;1.7e-08)|all_epithelial(167;8.38e-07)|all_lung(203;3.37e-06)|Lung NSC(69;2.31e-05) Epithelial(280;6.71e-26)|OV - Ovarian serous cystadenocarcinoma(397;4.74e-24)|all cancers(265;1.93e-22)|Lung(183;0.0543)|Kidney(133;0.0813)|Colorectal(144;0.174)|KIRC - Kidney renal clear cell carcinoma(1967;0.176)|LUSC - Lung squamous cell carcinoma(189;0.189)|BRCA - Breast invasive adenocarcinoma(282;0.201) Alefacept(DB00092) TTTCTCAGAGGGTCATCACAC 0.473000 7 101 0 0 1 0 0 LAMB4 22798 broad.mit.edu 37 7 107664513 107664513 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:107664513C>T ENST00000388781.3 - 34 5340 c.5257G>A c.(5257-5259)Gaa>Aaa p.E1753K LAMB4_ENST00000205386.4_Missense_Mutation_p.E1753K|LAMB4_ENST00000483484.1_5'UTR NM_007356.2 NP_031382.2 A4D0S4 LAMB4_HUMAN laminin, beta 4 1753 Domain I. cell adhesion basement membrane NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4) 97 TATTTTTTTTCTTGTTCAACA 0.373000 15 58 0 0 1 0 0 FNDC3A 22862 broad.mit.edu 37 13 49765165 49765165 + Missense_Mutation SNP A A T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr13:49765165A>T ENST00000492622.2 + 18 2264 c.1959A>T c.(1957-1959)ttA>ttT p.L653F FNDC3A_ENST00000541916.1_Missense_Mutation_p.L653F|FNDC3A_ENST00000398316.3_Missense_Mutation_p.L597F NM_001079673.1 NP_001073141.1 Q9Y2H6 FND3A_HUMAN fibronectin type III domain containing 3A 653 Fibronectin type-III 4. Golgi membrane|integral to membrane endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|prostate(5)|skin(2)|urinary_tract(1) 41 all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19) KIRC - Kidney renal clear cell carcinoma(9;0.206) GBM - Glioblastoma multiforme(99;2.94e-09) CTGAATCTTTACTTGTGCAGA 0.408000 8 112 0 0 1 0 0 SRCRB4D 136853 broad.mit.edu 37 7 76029726 76029726 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:76029726C>T ENST00000275560.3 - 4 699 c.352G>A c.(352-354)Ggc>Agc p.G118S ZP3_ENST00000336517.4_Intron NM_080744.1 NP_542782.1 Q8WTU2 SRB4D_HUMAN scavenger receptor cysteine rich domain containing, group B (4 domains) 118 SRCR 1. extracellular region|membrane scavenger receptor activity autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(9)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 21 AGGATGGGGCCTCGGCCTTGG 0.677000 17 57 0 0 1 0 0 MMP16 4325 broad.mit.edu 37 8 89068426 89068426 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:89068426G>A ENST00000286614.6 - 8 1584 c.1303C>T c.(1303-1305)Ccc>Tcc p.P435S NM_005941.4 NP_005932.2 P51512 MMP16_HUMAN matrix metallopeptidase 16 (membrane-inserted) 435 Hemopexin-like 2. collagen catabolic process|proteolysis cell surface|integral to plasma membrane|proteinaceous extracellular matrix calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3) 81 CCATGAGGGGGAATTCCACTT 0.423000 8 124 0 0 1 0 0 FYB 2533 broad.mit.edu 37 5 39202290 39202290 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:39202290G>A ENST00000351578.6 - 2 963 c.773C>T c.(772-774)cCc>cTc p.P258L FYB_ENST00000505428.1_Missense_Mutation_p.P258L|FYB_ENST00000512982.1_Missense_Mutation_p.P258L|FYB_ENST00000515010.1_Missense_Mutation_p.P258L|FYB_ENST00000540520.1_Missense_Mutation_p.P268L NM_199335.3 NP_955367.1 O15117 FYB_HUMAN FYN binding protein 258 cell junction assembly|immune response|intracellular protein kinase cascade|NLS-bearing substrate import into nucleus|protein phosphorylation|T cell receptor signaling pathway cytosol|nucleus protein binding endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1) 45 all_lung(31;0.000343) Epithelial(62;0.235) TCCAGGAAAGGGCAAACTTGA 0.498000 72 448 0 0 1 0 0 C1R 715 broad.mit.edu 37 12 7244216 7244216 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:7244216G>A ENST00000542285.1 - 2 209 c.60C>T c.(58-60)atC>atT p.I20I P00736 C1R_HUMAN complement component 1, r subcomponent 21 CUB 1. complement activation, classical pathway|innate immune response|proteolysis extracellular region calcium ion binding|serine-type endopeptidase activity endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|pancreas(1) 16 Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072) ACTTCTGAGGGATGGGAATGG 0.547000 4 9 0 0 1 0 0 PAK7 57144 broad.mit.edu 37 20 9543605 9543605 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr20:9543605C>T ENST00000378429.3 - 7 2095 c.1549G>A c.(1549-1551)Gat>Aat p.D517N PAK7_ENST00000353224.5_Missense_Mutation_p.D517N|PAK7_ENST00000378423.1_Missense_Mutation_p.D517N NM_020341.3 NP_065074.1 Q9P286 PAK7_HUMAN p21 protein (Cdc42/Rac)-activated kinase 7 517 Protein kinase. ATP binding|protein binding|protein serine/threonine kinase activity NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3) 81 COAD - Colon adenocarcinoma(9;0.194) CAGAGCTCATCGCCGACAAGG 0.478000 68 165 0 0 1 0 0 RIMS1 22999 broad.mit.edu 37 6 73110333 73110333 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:73110333G>A ENST00000264839.7 + 30 4543 c.4543G>A c.(4543-4545)Gat>Aat p.D1515N RIMS1_ENST00000517960.1_Missense_Mutation_p.D1449N|RIMS1_ENST00000348717.5_Missense_Mutation_p.D1449N|RIMS1_ENST00000522291.1_Missense_Mutation_p.D1265N|RIMS1_ENST00000517827.1_Missense_Mutation_p.D800N|RIMS1_ENST00000425662.2_Missense_Mutation_p.D734N|RIMS1_ENST00000431478.2_3'UTR|RIMS1_ENST00000401910.3_Missense_Mutation_p.D986N|RIMS1_ENST00000491071.2_Missense_Mutation_p.D1455N|RIMS1_ENST00000538414.1_Missense_Mutation_p.D472N|RIMS1_ENST00000523963.1_Missense_Mutation_p.D791N|RIMS1_ENST00000521978.1_Missense_Mutation_p.D1666N|RIMS1_ENST00000520567.1_Missense_Mutation_p.D1316N|RIMS1_ENST00000518273.1_Missense_Mutation_p.D1345N|RIMS1_ENST00000414192.2_Missense_Mutation_p.D193N Q86UR5 RIMS1_HUMAN regulating synaptic membrane exocytosis 1 1666 calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception cell junction|presynaptic membrane metal ion binding|Rab GTPase binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 102 all_epithelial(107;0.179)|all_hematologic(105;0.212) CTCACTGGTGGATCCCACACT 0.522000 65 34 0 0 1 0 0 COL21A1 81578 broad.mit.edu 37 6 56032941 56032941 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:56032941C>T ENST00000244728.5 - 6 1578 c.1181G>A c.(1180-1182)gGa>gAa p.G394E COL21A1_ENST00000370819.1_Missense_Mutation_p.G394E|COL21A1_ENST00000535941.1_Missense_Mutation_p.G394E NM_030820.3 NP_110447.2 Q96P44 COLA1_HUMAN collagen, type XXI, alpha 1 394 TSP N-terminal. cell adhesion collagen|cytoplasm structural molecule activity breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2) 41 Lung NSC(77;0.0483) LUSC - Lung squamous cell carcinoma(124;0.181) TTCTTCTTTTCCAGAATATTT 0.313000 3 9 0 0 1 0 0 MMP1 4312 broad.mit.edu 37 11 102663439 102663439 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:102663439C>T ENST00000315274.6 - 7 997 c.930G>A c.(928-930)ccG>ccA p.P310P WTAPP1_ENST00000525739.2_RNA NM_001145938.1|NM_002421.3 NP_001139410.1|NP_002412.1 P03956 MMP1_HUMAN matrix metallopeptidase 1 (interstitial collagenase) 310 Hemopexin-like 1. blood coagulation|collagen catabolic process|interspecies interaction between organisms|leukocyte migration|proteolysis proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding breast(2)|endometrium(1)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 30 all_epithelial(12;0.0127) all_neural(303;0.000318)|all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) Epithelial(9;0.072)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.233) OV - Ovarian serous cystadenocarcinoma(223;1.82e-07)|Epithelial(105;1.51e-06)|BRCA - Breast invasive adenocarcinoma(274;0.014) GCTCAACTTCCGGGTAGAAGG 0.423000 44 57 0 0 1 0 0 SDAD1P1 157489 broad.mit.edu 37 8 26237392 26237392 + RNA SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:26237392C>T ENST00000519902.1 - 0 2556 TTGGAAATTTCTTGCTGTTCT 0.473000 12 61 0 0 1 0 0 GALNT15 117248 broad.mit.edu 37 3 16261037 16261037 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:16261037G>A ENST00000339732.5 + 7 2023 c.1520G>A c.(1519-1521)gGa>gAa p.G507E GALNT15_ENST00000437509.1_Missense_Mutation_p.G507E NM_054110.4 NP_473451.3 UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 15 AGTTTCTCTGGAAAGGCAAGG 0.527000 94 222 0 0 1 0 0 SYNE1 23345 broad.mit.edu 37 6 152640006 152640006 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:152640006C>T ENST00000367255.5 - 85 16982 c.16381G>A c.(16381-16383)Gac>Aac p.D5461N SYNE1_ENST00000265368.4_Missense_Mutation_p.D5461N|SYNE1_ENST00000423061.1_Missense_Mutation_p.D5390N|SYNE1_ENST00000448038.1_Missense_Mutation_p.D5390N|SYNE1_ENST00000341594.5_Missense_Mutation_p.D5134N NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 5461 cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19) 524 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) ACCTTTTGGTCAGTTTTAGCT 0.353000 HNSCC(10;0.0054) 14 33 0 0 1 0 0 KBTBD12 166348 broad.mit.edu 37 3 127642834 127642834 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:127642834C>T ENST00000405109.1 + 2 1397 c.930C>T c.(928-930)ttC>ttT p.F310F KBTBD12_ENST00000343941.4_Intron|KBTBD12_ENST00000407609.3_Intron|KBTBD12_ENST00000405256.1_Silent_p.F310F Q3ZCT8 KBTBC_HUMAN kelch repeat and BTB (POZ) domain containing 12 310 endometrium(1)|large_intestine(6)|lung(5)|ovary(1) 13 AAACCTATTTCATCTCATCTC 0.418000 38 76 0 0 1 0 0 GAP43 2596 broad.mit.edu 37 3 115395316 115395316 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:115395316G>A ENST00000393780.3 + 3 1063 c.595G>A c.(595-597)Gag>Aag p.E199K GAP43_ENST00000305124.6_Missense_Mutation_p.E163K NM_001130064.1 NP_001123536.1 P17677 NEUM_HUMAN growth associated protein 43 163 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell differentiation|nervous system development|regulation of filopodium assembly|regulation of growth|response to wounding cell junction|filopodium membrane|growth cone membrane|synapse calmodulin binding endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 32 GBM - Glioblastoma multiforme(114;0.164) CCCAGCCAAGGAGGAGCCTAA 0.602000 4 69 0 0 1 0 0 LILRB5 10990 broad.mit.edu 37 19 54760582 54760582 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:54760582C>T ENST00000450632.1 - 3 202 c.125G>A c.(124-126)gGg>gAg p.G42E LILRB5_ENST00000345866.6_Missense_Mutation_p.G42E|LILRB5_ENST00000316219.5_Missense_Mutation_p.G42E|LILRB5_ENST00000449561.2_Missense_Mutation_p.G42E O75023 LIRB5_HUMAN leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5 42 Ig-like C2-type 1. cell surface receptor linked signaling pathway|defense response integral to membrane transmembrane receptor activity NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 56 all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) CACGGGCTTCCCCCGAGCTAT 0.617000 10 205 0 0 1 0 0 MYH2 4620 broad.mit.edu 37 17 10438597 10438597 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:10438597G>A ENST00000245503.5 - 18 2444 c.2060C>T c.(2059-2061)cCt>cTt p.P687L MYH2_ENST00000397183.2_Missense_Mutation_p.P687L|MYH2_ENST00000532183.1_Intron|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA NM_017534.5 NP_060004.3 Q9UKX2 MYH2_HUMAN myosin, heavy chain 2, skeletal muscle, adult 687 Myosin head-like. muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle p.P687L(1) NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4) 176 TTTCTTACCAGGAGTTTTTGT 0.423000 18 39 0 0 1 0 0 ANKRD30A 91074 broad.mit.edu 37 10 37505198 37505198 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:37505198G>A ENST00000374660.1 + 38 3247 c.3148G>A c.(3148-3150)Gga>Aga p.G1050R ANKRD30A_ENST00000361713.1_Missense_Mutation_p.G931R|ANKRD30A_ENST00000602533.1_Missense_Mutation_p.G931R Q9BXX3 AN30A_HUMAN ankyrin repeat domain 30A 1053 nucleus DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3) 158 ACAACGTACAGGAAAAATGGA 0.333000 28 69 0 0 1 0 0 RGS4 5999 broad.mit.edu 37 1 163044336 163044336 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:163044336C>T ENST00000421743.2 + 6 1055 c.895C>T c.(895-897)Cct>Tct p.P299S RGS4_ENST00000527809.1_Missense_Mutation_p.P184S|RGS4_ENST00000367906.3_Missense_Mutation_p.P184S|RGS4_ENST00000367909.6_Missense_Mutation_p.P202S|RGS4_ENST00000531057.1_Intron|RGS4_ENST00000491263.1_3'UTR|RGS4_ENST00000367908.4_3'UTR NM_001102445.2|NM_001113380.1 NP_001095915.1|NP_001106851.1 P49798 RGS4_HUMAN regulator of G-protein signaling 4 202 inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway plasma membrane calmodulin binding|GTPase activator activity|signal transducer activity breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|upper_aerodigestive_tract(2) 21 TTCCCTGGTCCCTCAGTGTGC 0.488000 4 161 0 0 1 0 0 EPS8L3 79574 broad.mit.edu 37 1 110301913 110301913 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:110301913C>T ENST00000369805.3 - 5 581 c.352G>A c.(352-354)Gag>Aag p.E118K EPS8L3_ENST00000361965.4_Missense_Mutation_p.E118K|RP4-735C1.4_ENST00000431955.1_RNA|EPS8L3_ENST00000361852.4_Missense_Mutation_p.E118K|EPS8L3_ENST00000494151.1_5'UTR NM_133181.3|NM_139053.2 NP_573444.2|NP_620641.1 Q8TE67 ES8L3_HUMAN EPS8-like 3 118 cytoplasm protein binding breast(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|upper_aerodigestive_tract(1) 32 all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269) Lung(183;0.0245)|Colorectal(144;0.0365)|all cancers(265;0.103)|Epithelial(280;0.109)|LUSC - Lung squamous cell carcinoma(189;0.137)|COAD - Colon adenocarcinoma(174;0.141) AGGCCCGGCTCCTGCACGGTG 0.602000 95 200 0 0 1 0 0 TTC40 54777 broad.mit.edu 37 10 134622148 134622148 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:134622148G>A ENST00000368586.5 - 58 8025 c.7925C>T c.(7924-7926)gCc>gTc p.A2642V TTC40_ENST00000263170.5_Missense_Mutation_p.A803V NM_001200049.2 NP_001186978.2 Q8IYW2 CJ092_HUMAN tetratricopeptide repeat domain 40 803 breast(1)|endometrium(5)|lung(19)|urinary_tract(3) 28 tgcaccaagggctggggagag 0.706000 8 25 0 0 1 0 0 PLCE1 51196 broad.mit.edu 37 10 95791914 95791914 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:95791914C>T ENST00000260766.3 + 2 1745 c.1111C>T c.(1111-1113)Ccc>Tcc p.P371S PLCE1_ENST00000371380.2_Missense_Mutation_p.P371S NM_016341.3 NP_057425.3 Q9P212 PLCE1_HUMAN phospholipase C, epsilon 1 371 activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction cytosol|Golgi membrane|membrane fraction|plasma membrane calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1) 8 Colorectal(252;0.0458) GAGAAATGGTCCCTTACTGCC 0.488000 36 64 0 0 1 0 0 ZNF568 374900 broad.mit.edu 37 19 37440716 37440716 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:37440716C>T ENST00000415168.1 + 5 845 c.469C>T c.(469-471)Ccc>Tcc p.P157S ZNF568_ENST00000455427.2_Intron|ZNF568_ENST00000427117.1_Intron|ZNF568_ENST00000333987.7_Missense_Mutation_p.P221S NM_001204837.1 NP_001191766.1 Q3ZCX4 ZN568_HUMAN zinc finger protein 568 221 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(9)|ovary(1) 29 Esophageal squamous(110;0.183) COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) TGTTGTAACCCCCTTTAAGTG 0.368000 29 117 0 0 1 0 0 MC4R 4160 broad.mit.edu 37 18 58038616 58038616 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr18:58038616C>T ENST00000299766.3 - 1 1385 c.967G>A c.(967-969)Gga>Aga p.G323R NM_005912.2 NP_005903.2 P32245 MC4R_HUMAN melanocortin 4 receptor 323 feeding behavior|G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of bone resorption|positive regulation of cAMP biosynthetic process integral to membrane|plasma membrane melanocyte-stimulating hormone receptor activity|neuropeptide binding|ubiquitin protein ligase binding endometrium(2)|kidney(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1) 17 Colorectal(73;0.0946) CAAAGGCCTCCCAGGGGATAG 0.418000 43 87 0 0 1 0 0 CCDC157 550631 broad.mit.edu 37 22 30772331 30772331 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr22:30772331C>T ENST00000405659.1 + 11 2650 c.1941C>T c.(1939-1941)tcC>tcT p.S647S CCDC157_ENST00000338306.3_Silent_p.S647S|RP1-130H16.16_ENST00000332468.4_RNA Q569K6 CC157_HUMAN coiled-coil domain containing 157 647 central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(1) 15 AGAGCACATCCCCAGGGTGAG 0.567000 7 142 0 0 1 0 0 ZNF684 127396 broad.mit.edu 37 1 41012620 41012620 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:41012620C>T ENST00000372699.3 + 5 876 c.625C>T c.(625-627)Cat>Tat p.H209Y ZNF684_ENST00000493756.1_3'UTR NM_152373.3 NP_689586.3 Q5T5D7 ZN684_HUMAN zinc finger protein 684 209 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(2)|kidney(2)|lung(3)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 13 Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0393) OV - Ovarian serous cystadenocarcinoma(33;5.42e-18) TCAGAAAATTCATAATGGAGA 0.428000 35 55 0 0 1 0 0 MGAT4C 25834 broad.mit.edu 37 12 86373155 86373155 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:86373155G>A ENST00000604798.1 - 8 2553 c.1349C>T c.(1348-1350)cCa>cTa p.P450L MGAT4C_ENST00000549405.2_Missense_Mutation_p.P450L|MGAT4C_ENST00000552808.2_Missense_Mutation_p.P450L|MGAT4C_ENST00000332156.1_Missense_Mutation_p.P450L|MGAT4C_ENST00000548651.1_Missense_Mutation_p.P450L|MGAT4C_ENST00000393205.2_Missense_Mutation_p.P479L Q9UBM8 MGT4C_HUMAN mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme C (putative) 450 post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 41 TATATCAAATGGAATTTTTTG 0.313000 6 54 0 0 1 0 0 SH3TC2 79628 broad.mit.edu 37 5 148388511 148388511 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:148388511C>T ENST00000538184.1 - 11 2910 c.2022G>A c.(2020-2022)cgG>cgA p.R674R SH3TC2_ENST00000515425.1_Silent_p.R1127R|SH3TC2_ENST00000512049.1_Silent_p.R1120R Q8TF17 S3TC2_HUMAN SH3 domain and tetratricopeptide repeats 2 1127 binding breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 39 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TATTGAAAATCCGGAGCTCAG 0.527000 62 159 0 0 1 0 0 SMAP1 60682 broad.mit.edu 37 6 71501396 71501396 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:71501396C>T ENST00000370455.3 + 5 667 c.419C>T c.(418-420)tCc>tTc p.S140F SMAP1_ENST00000370452.3_Intron|SMAP1_ENST00000316999.5_Intron NM_001044305.1 NP_001037770.1 Q8IYB5 SMAP1_HUMAN small ArfGAP 1 140 regulation of ARF GTPase activity plasma membrane ARF GTPase activator activity|zinc ion binding breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(1) 15 CCACAGATTTCCTCCTCTGAT 0.398000 43 117 0 0 1 0 0 DNAH17 8632 broad.mit.edu 37 17 76510937 76510937 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:76510937G>A ENST00000389840.5 - 26 4144 c.4020C>T c.(4018-4020)atC>atT p.I1340I DNAH17_ENST00000585328.1_Silent_p.I1341I dynein, axonemal, heavy chain 17 NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 116 BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656) GCAGGGACGTGATCACGTTTT 0.562000 28 118 0 0 1 0 0 DRD5 1816 broad.mit.edu 37 4 9784034 9784034 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:9784034C>T ENST00000304374.2 + 1 777 c.381C>T c.(379-381)tcC>tcT p.S127S NM_000798.4 NP_000789.1 P21918 DRD5_HUMAN dopamine receptor D5 127 activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic integral to plasma membrane NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1) 57 Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624) CCACTGCCTCCATCCTGAACC 0.617000 27 58 0 0 1 0 0 IL21R 50615 broad.mit.edu 37 16 27460315 27460315 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr16:27460315G>A ENST00000337929.3 + 9 1801 c.1328G>A c.(1327-1329)gGa>gAa p.G443E IL21R-AS1_ENST00000563191.1_RNA|IL21R_ENST00000395754.4_Missense_Mutation_p.G443E|IL21R_ENST00000395755.1_Missense_Mutation_p.G443E|IL21R_ENST00000564089.1_Missense_Mutation_p.G443E NM_181078.2 NP_851564.1 Q9HBE5 IL21R_HUMAN interleukin 21 receptor 443 natural killer cell activation integral to membrane interleukin-21 receptor activity breast(2)|large_intestine(3)|lung(1)|ovary(2) 8 GGGCCCCTGGGAAGCCTCCTG 0.662000 T BCL6 NHL 25 58 0 0 1 0 0 TIAM1 7074 broad.mit.edu 37 21 32496994 32496994 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr21:32496994C>T ENST00000286827.3 - 28 4623 c.4152G>A c.(4150-4152)aaG>aaA p.K1384K TIAM1_ENST00000541036.1_Silent_p.K1324K NM_003253.2 NP_003244.2 Q13009 TIAM1_HUMAN T-cell lymphoma invasion and metastasis 1 1384 PH 2. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cell-cell junction|cytosol receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2) 115 TTAGGAAATCCTTTCGGCTCT 0.458000 20 32 0 0 1 0 0 PRKDC 5591 broad.mit.edu 37 8 48761735 48761735 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:48761735G>A ENST00000314191.2 - 55 7313 c.7257C>T c.(7255-7257)ttC>ttT p.F2419F PRKDC_ENST00000338368.3_Silent_p.F2419F|PRKDC_ENST00000523565.1_5'UTR NM_006904.6 NP_008835.5 P78527 PRKDC_HUMAN protein kinase, DNA-activated, catalytic polypeptide 2420 cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7) 147 all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391) TGACTTGAACGAAGTCCTTGC 0.448000 Non-homologous end-joining 35 93 0 0 1 0 0 RUVBL2 10856 broad.mit.edu 37 19 49507665 49507665 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:49507665C>T ENST00000413176.2 + 4 1268 c.120C>T c.(118-120)gcC>gcT p.A40A RUVBL2_ENST00000595090.1_Silent_p.A85A|RUVBL2_ENST00000601968.1_Silent_p.A40A Q9Y230 RUVB2_HUMAN RuvB-like AAA ATPase 2 85 cellular response to UV|DNA recombination|DNA repair|histone H2A acetylation|histone H4 acetylation|protein folding|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|Ino80 complex|membrane|MLL1 complex|NuA4 histone acetyltransferase complex|nuclear matrix ATP binding|ATP-dependent DNA helicase activity|damaged DNA binding|identical protein binding|unfolded protein binding large_intestine(1)|upper_aerodigestive_tract(1) 2 all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) all cancers(93;0.000449)|OV - Ovarian serous cystadenocarcinoma(262;0.000555)|GBM - Glioblastoma multiforme(486;0.00585)|Epithelial(262;0.047) GGAAGACGGCCATCGCCATGG 0.602000 37 94 0 0 1 0 0 HEG1 57493 broad.mit.edu 37 3 124738371 124738371 + Silent SNP A A T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:124738371A>T ENST00000311127.4 - 5 1390 c.1323T>A c.(1321-1323)acT>acA p.T441T NM_020733.1 NP_065784.1 Q9ULI3 HEG1_HUMAN heart development protein with EGF-like domains 1 441 extracellular region|integral to membrane calcium ion binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(24)|ovary(2)|urinary_tract(4) 47 ACCTAGACACAGTCTCAGTCT 0.493000 14 257 0 0 1 0 0 NEO1 4756 broad.mit.edu 37 15 73593724 73593724 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr15:73593724C>T ENST00000339362.5 + 29 4675 c.4228C>T c.(4228-4230)Cct>Tct p.P1410S NEO1_ENST00000560262.1_Missense_Mutation_p.P1357S|NEO1_ENST00000261908.6_Missense_Mutation_p.P1410S|NEO1_ENST00000558964.1_Missense_Mutation_p.P1399S Q92859 NEO1_HUMAN neogenin 1 1410 axon guidance|cell adhesion|positive regulation of muscle cell differentiation Golgi apparatus|integral to plasma membrane|nucleus NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(9)|lung(26)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2) 57 AAGGAGCCGGCCTCCTATGCC 0.562000 26 53 0 0 1 0 0 NDUFV1 4723 broad.mit.edu 37 11 67378014 67378014 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:67378014C>T ENST00000322776.6 + 5 826 c.673C>T c.(673-675)Ctg>Ttg p.L225L NDUFV1_ENST00000415352.2_Silent_p.L218L|NDUFV1_ENST00000532303.1_Silent_p.L124L|NDUFV1_ENST00000529927.1_Silent_p.L216L|NDUFV1_ENST00000526169.1_3'UTR NM_001166102.1|NM_007103.3 NP_001159574.1|NP_009034.2 P49821 NDUV1_HUMAN NADH dehydrogenase (ubiquinone) flavoprotein 1, 51kDa 225 mitochondrial electron transport, NADH to ubiquinone|transport mitochondrial respiratory chain complex I 4 iron, 4 sulfur cluster binding|FMN binding|metal ion binding|NAD binding|NADH dehydrogenase (ubiquinone) activity breast(1)|endometrium(3)|large_intestine(2)|lung(7)|prostate(1)|skin(2) 16 NADH(DB00157) CAAGCCCCGCCTGAAGCCCCC 0.617000 32 70 0 0 1 0 0 MYO15A 51168 broad.mit.edu 37 17 18066623 18066623 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:18066623C>T ENST00000205890.5 + 59 10016 c.9678C>T c.(9676-9678)atC>atT p.I3226I MYO15A_ENST00000451725.2_Silent_p.I118I|MYO15A_ENST00000418233.3_Silent_p.I490I NM_016239.3 NP_057323.3 Q9UKN7 MYO15_HUMAN myosin XVA 3226 FERM.|Tail. sensory perception of sound cytoplasm|myosin complex|stereocilium actin binding|ATP binding|calmodulin binding|motor activity breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 99 all_neural(463;0.228) ATCTCAAAATCAAAACATGCA 0.557000 44 108 0 0 1 0 0 TERT 7015 broad.mit.edu 37 5 1294069 1294069 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:1294069G>A ENST00000310581.5 - 2 989 c.932C>T c.(931-933)tCg>tTg p.S311L TERT_ENST00000334602.6_Missense_Mutation_p.S311L|TERT_ENST00000296820.5_Missense_Mutation_p.S311L|TERT_ENST00000508104.2_Missense_Mutation_p.S311L NM_001193376.1|NM_198253.2 NP_001180305.1|NP_937983.2 O14746 TERT_HUMAN telomerase reverse transcriptase 311 Linker.|Required for oligomerization. anti-apoptosis|DNA strand elongation|replicative senescence|telomere formation via telomerase|telomere maintenance via telomerase cytoplasm|nucleolus|PML body|telomerase holoenzyme complex protein homodimerization activity|telomeric DNA binding|telomeric RNA binding|telomeric template RNA reverse transcriptase activity NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(3)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 41 all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10) Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185) TGGTGGCCGCGATGTGGATGG 0.697000 TERT Mutation-Associated Haematological Disorders;Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis 4 13 0 0 1 0 0 DCAF6 55827 broad.mit.edu 37 1 168032897 168032897 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:168032897G>A ENST00000367840.3 + 18 2433 c.2339G>A c.(2338-2340)cGg>cAg p.R780Q DCAF6_ENST00000432587.2_Missense_Mutation_p.R749Q|DCAF6_ENST00000312263.6_Missense_Mutation_p.R689Q|DCAF6_ENST00000367843.3_Missense_Mutation_p.R709Q NM_001198956.1 NP_001185885.1 Q58WW2 DCAF6_HUMAN DDB1 and CUL4 associated factor 6 689 positive regulation of transcription from RNA polymerase II promoter CUL4 RING ubiquitin ligase complex|nucleus ligand-dependent nuclear receptor transcription coactivator activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 36 TTCTTCAGACGGAGAAAAGAA 0.338000 28 20 0 0 1 0 0 SMG7 9887 broad.mit.edu 37 1 183514227 183514227 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:183514227C>T ENST00000367537.3 + 17 2294 c.2099C>T c.(2098-2100)cCt>cTt p.P700L SMG7_ENST00000347615.2_Missense_Mutation_p.P717L|SMG7_ENST00000507469.1_Missense_Mutation_p.P671L|SMG7_ENST00000456731.2_Missense_Mutation_p.P629L|SMG7_ENST00000508461.1_Missense_Mutation_p.P675L|SMG7_ENST00000515829.2_Missense_Mutation_p.P671L Q92540 SMG7_HUMAN SMG7 nonsense mediated mRNA decay factor 717 Gln/Pro-rich. mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation cytoplasm|intermediate filament cytoskeleton|nucleus protein phosphatase 2A binding breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 46 TCCCACATTCCTTACAGCCAG 0.552000 191 189 0 0 1 0 0 IL7R 3575 broad.mit.edu 37 5 35875614 35875614 + Splice_Site SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:35875614G>A ENST00000303115.3 + 7 930 c.800_splice c.e7-1 p.R267_splice IL7R_ENST00000343305.4_Splice_Site_p.G236_splice|IL7R_ENST00000506850.1_Splice_Site_p.G236_splice NM_002185.3 NP_002176.2 P16871 IL7RA_HUMAN interleukin 7 receptor 267 immune response|regulation of DNA recombination extracellular region|integral to membrane antigen binding|interleukin-7 receptor activity NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3) 126 all_lung(31;0.00015) Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202) CTGATTTCAGGATTAAGCCTA 0.418000 """Mis, O""" """ALL, ETP ALL""" Severe combined immune deficiency 14 64 0 0 1 0 0 GANC 2595 broad.mit.edu 37 15 42631946 42631946 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr15:42631946C>T ENST00000318010.8 + 17 2163 c.1923C>T c.(1921-1923)ttC>ttT p.F641F NM_198141.2 NP_937784.2 Q8TET4 GANC_HUMAN glucosidase, alpha; neutral C 641 carbohydrate metabolic process carbohydrate binding|maltose alpha-glucosidase activity breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 all_cancers(109;3.08e-16)|all_epithelial(112;7.48e-15)|Lung NSC(122;3.08e-09)|all_lung(180;1.48e-08)|Melanoma(134;0.0574)|Colorectal(260;0.153) GBM - Glioblastoma multiforme(94;1.06e-06) ACCAGCCCTTCTTCCGTGGCC 0.572000 50 101 0 0 1 0 0 ADCY8 114 broad.mit.edu 37 8 131949440 131949440 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:131949440G>A ENST00000286355.5 - 5 3452 c.1360C>T c.(1360-1362)Cac>Tac p.H454Y RP11-737F9.1_ENST00000523318.1_RNA|ADCY8_ENST00000377928.3_Missense_Mutation_p.H454Y NM_001115.2 NP_001106.1 P40145 ADCY8_HUMAN adenylate cyclase 8 (brain) 454 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|membrane fraction|plasma membrane ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2) 134 Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000538) CGAAGGCAGTGATGCTCCTGG 0.522000 HNSCC(32;0.087) 23 36 0 0 1 0 0 SMG8 55181 broad.mit.edu 37 17 57288739 57288739 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:57288739C>T ENST00000543872.2 + 2 1591 c.1327C>T c.(1327-1329)Cct>Tct p.P443S SMG8_ENST00000300917.5_Missense_Mutation_p.P443S|SMG8_ENST00000578922.1_Missense_Mutation_p.P443S|CTD-2510F5.6_ENST00000577660.1_Intron|SMG8_ENST00000580498.1_Intron Q8ND04 SMG8_HUMAN SMG8 nonsense mediated mRNA decay factor 443 nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of protein kinase activity protein binding NS(1)|breast(5)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1) 33 TTTTGAACTTCCTACTTATCA 0.478000 31 92 0 0 1 0 0 AKNAD1 254268 broad.mit.edu 37 1 109391586 109391586 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:109391586C>T ENST00000370001.3 - 4 1398 c.1130G>A c.(1129-1131)gGg>gAg p.G377E AKNAD1_ENST00000369995.3_Missense_Mutation_p.G377E|AKNAD1_ENST00000369994.1_Missense_Mutation_p.G377E|AKNAD1_ENST00000357393.4_Missense_Mutation_p.G84E NM_152763.4 NP_689976.2 Q5T1N1 AKND1_HUMAN AKNA domain containing 1 377 breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|prostate(6)|skin(3)|stomach(2) 32 CATCTGTTTCCCTTGGGATAT 0.343000 46 114 0 0 1 0 0 LRRC37A16P 651250 broad.mit.edu 37 17 66131515 66131515 + RNA SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:66131515C>T ENST00000590019.1 - 0 298 TCACCTGGCCCCGGATCTTGC 0.637000 20 39 0 0 1 0 0 GRK7 131890 broad.mit.edu 37 3 141535584 141535584 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:141535584C>T ENST00000264952.2 + 4 1491 c.1354C>T c.(1354-1356)Cat>Tat p.H452Y NM_139209.2 NP_631948.1 Q8WTQ7 GRK7_HUMAN G protein-coupled receptor kinase 7 452 Protein kinase. visual perception membrane ATP binding|G-protein coupled receptor kinase activity|signal transducer activity endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 26 CAGGAAACATCATTTCTTTAA 0.423000 27 86 0 0 1 0 0 CCDC68 80323 broad.mit.edu 37 18 52596091 52596091 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr18:52596091C>T ENST00000591504.1 - 8 897 c.623G>A c.(622-624)aGa>aAa p.R208K CCDC68_ENST00000337363.4_Missense_Mutation_p.R208K|CCDC68_ENST00000432185.1_Missense_Mutation_p.R208K NM_025214.2 NP_079490.1 Q9H2F9 CCD68_HUMAN coiled-coil domain containing 68 208 breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(3)|stomach(1) 14 Colorectal(16;0.0256)|READ - Rectum adenocarcinoma(59;0.21) AGACAGTTTTCTTTCTAGTAG 0.363000 17 44 0 0 1 0 0 OR2L3 391192 broad.mit.edu 37 1 248224681 248224681 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:248224681G>A ENST00000359959.3 + 1 698 c.698G>A c.(697-699)aGg>aAg p.R233K OR2L13_ENST00000366478.2_Intron NM_001004687.1 NP_001004687.1 Q8NG85 OR2L3_HUMAN olfactory receptor, family 2, subfamily L, member 3 233 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(2)|large_intestine(7)|lung(28)|prostate(1)|skin(1)|urinary_tract(1) 41 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0278) GCAGAAGGGAGGAAGAAAGCC 0.473000 78 212 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179411080 179411080 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:179411080C>T ENST00000589042.1 - 342 95202 c.94978G>A c.(94978-94980)Gaa>Aaa p.E31660K TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E22720K|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E30019K|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E29092K|TTN_ENST00000460472.2_Missense_Mutation_p.E22595K|TTN_ENST00000342175.6_Missense_Mutation_p.E22787K|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 30019 Fibronectin type-III 130. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GAGACTTTTTCACAGAGATCT 0.433000 50 125 0 0 1 0 0 IMPDH1 3614 broad.mit.edu 37 7 128033064 128033064 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:128033064G>A ENST00000338791.6 - 17 2147 c.1797C>T c.(1795-1797)taC>taT p.Y599Y IMPDH1_ENST00000378717.4_Silent_p.Y530Y|IMPDH1_ENST00000470772.1_Silent_p.Y513Y|IMPDH1_ENST00000354269.5_Silent_p.Y589Y|IMPDH1_ENST00000348127.6_Silent_p.Y563Y|IMPDH1_ENST00000480861.1_Silent_p.Y509Y|IMPDH1_ENST00000419067.2_Silent_p.Y566Y|IMPDH1_ENST00000343214.4_Silent_p.Y489Y|IMPDH1_ENST00000496200.1_Silent_p.Y489Y NM_000883.3 NP_000874.2 P20839 IMDH1_HUMAN IMP (inosine 5'-monophosphate) dehydrogenase 1 514 GMP biosynthetic process|purine base metabolic process cytosol|nucleus DNA binding|IMP dehydrogenase activity|metal ion binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3) 22 Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|NADH(DB00157)|Ribavirin(DB00811)|Thioguanine(DB00352) GCTGTCCTCAGTACAGCCGCT 0.597000 30 119 0 0 1 0 0 IL18RAP 8807 broad.mit.edu 37 2 103040466 103040466 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:103040466C>T ENST00000264260.2 + 4 855 c.266C>T c.(265-267)tCg>tTg p.S89L IL18RAP_ENST00000409369.1_Intron NM_003853.2 NP_003844.1 O95256 I18RA_HUMAN interleukin 18 receptor accessory protein 89 cell surface receptor linked signaling pathway|inflammatory response|innate immune response integral to membrane transmembrane receptor activity autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4) 37 CAACAACCTTCGAATGGAGAT 0.458000 30 45 0 0 1 0 0 ATP2C1 27032 broad.mit.edu 37 3 130698095 130698095 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:130698095C>T ENST00000510168.1 + 19 2123 c.1573C>T c.(1573-1575)Ctt>Ttt p.L525F ATP2C1_ENST00000422190.2_Missense_Mutation_p.L525F|ATP2C1_ENST00000513801.1_Missense_Mutation_p.L509F|ATP2C1_ENST00000507488.2_Missense_Mutation_p.L509F|ATP2C1_ENST00000533801.2_Missense_Mutation_p.L520F|ATP2C1_ENST00000508532.1_Missense_Mutation_p.L525F|ATP2C1_ENST00000504948.1_Missense_Mutation_p.L509F|ATP2C1_ENST00000505330.1_Missense_Mutation_p.L509F|ATP2C1_ENST00000428331.2_Missense_Mutation_p.L525F|ATP2C1_ENST00000504381.1_Missense_Mutation_p.L470F|ATP2C1_ENST00000328560.8_Missense_Mutation_p.L525F|ATP2C1_ENST00000393221.4_Missense_Mutation_p.L559F|ATP2C1_ENST00000359644.3_Missense_Mutation_p.L525F P98194 AT2C1_HUMAN ATPase, Ca++ transporting, type 2C, member 1 525 actin cytoskeleton reorganization|ATP biosynthetic process|calcium-dependent cell-cell adhesion|cellular calcium ion homeostasis|cellular manganese ion homeostasis|epidermis development|Golgi calcium ion homeostasis|Golgi calcium ion transport|positive regulation of I-kappaB kinase/NF-kappaB cascade Golgi apparatus|Golgi membrane|integral to membrane|trans-Golgi network ATP binding|calcium ion binding|calcium-transporting ATPase activity|manganese ion binding|manganese-transporting ATPase activity|metal ion binding|signal transducer activity breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|prostate(2)|skin(2)|urinary_tract(1) 39 Arsenic trioxide(DB01169)|Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Miconazole(DB01110)|Sevoflurane(DB01236) TTCCTAAGTTCTTGCTTTGGC 0.373000 Hailey-Hailey disease 47 79 0 0 1 0 0 FREM2 341640 broad.mit.edu 37 13 39263363 39263363 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr13:39263363C>T ENST00000280481.7 + 1 2098 c.1882C>T c.(1882-1884)Ctt>Ttt p.L628F NM_207361.4 NP_997244.3 Q5SZK8 FREM2_HUMAN FRAS1 related extracellular matrix protein 2 628 cell communication|homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2) 148 Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114) all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312) TCTCAGAGGCCTTTGGAGGAA 0.542000 14 41 0 0 1 0 0 KCNA4 3739 broad.mit.edu 37 11 30032693 30032693 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:30032693G>A ENST00000328224.6 - 2 2766 c.1533C>T c.(1531-1533)atC>atT p.I511I NM_002233.3 NP_002224.1 P22459 KCNA4_HUMAN potassium voltage-gated channel, shaker-related subfamily, member 4 511 voltage-gated potassium channel complex potassium ion binding|protein binding|voltage-gated potassium channel activity central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 78 ATGCATCTGGGATGCTTTGGA 0.512000 4 123 0 0 1 0 0 THBS2 7058 broad.mit.edu 37 6 169632099 169632099 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:169632099G>A ENST00000366787.3 - 14 2376 c.2127C>T c.(2125-2127)acC>acT p.T709T XXyac-YX65C7_A.2_ENST00000444188.1_RNA NM_003247.2 NP_003238.2 P35442 TSP2_HUMAN thrombospondin 2 709 cell adhesion extracellular region calcium ion binding|heparin binding|protein binding|structural molecule activity NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 111 Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247) OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379) AGGTGGCGTTGGTGGCGCAGA 0.701000 54 18 0 0 1 0 0 CD200R1 131450 broad.mit.edu 37 3 112642578 112642578 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:112642578C>T ENST00000471858.1 - 7 1156 c.924G>A c.(922-924)gtG>gtA p.V308V CD200R1_ENST00000295863.4_3'UTR|CD200R1_ENST00000308611.3_Silent_p.V331V NM_170780.2 NP_740750.1 Q8TD46 MO2R1_HUMAN CD200 receptor 1 308 interspecies interaction between organisms|regulation of immune response extracellular region|integral to membrane|plasma membrane receptor activity cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1) 26 CAGATGCCTTCACCTTGTTTG 0.378000 24 68 0 0 1 0 0 GTSE1 51512 broad.mit.edu 37 22 46693323 46693323 + Missense_Mutation SNP A A G TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr22:46693323A>G ENST00000454366.1 + 2 238 c.26A>G c.(25-27)gAg>gGg p.E9G NM_016426.6 NP_057510.4 Q9NYZ3 GTSE1_HUMAN G-2 and S-phase expressed 1 0 DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G2 phase of mitotic cell cycle|microtubule-based process cytoplasmic microtubule NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3) 27 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.00462) GGCCGCGATGAGCCTTCAGCC 0.607000 45 91 0 0 1 0 0 SUSD3 203328 broad.mit.edu 37 9 95840142 95840142 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:95840142G>A ENST00000375472.3 + 3 328 c.292G>A c.(292-294)Gag>Aag p.E98K SUSD3_ENST00000375469.1_Missense_Mutation_p.E85K NM_145006.2 NP_659443.1 Q96L08 SUSD3_HUMAN sushi domain containing 3 98 integral to membrane NS(1)|autonomic_ganglia(1)|breast(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(2) 13 GCCACCACACGAGACCTTTGG 0.607000 26 66 0 0 1 0 0 ZC3H7B 23264 broad.mit.edu 37 22 41752784 41752784 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr22:41752784C>T ENST00000352645.4 + 22 2910 c.2653C>T c.(2653-2655)Ccc>Tcc p.P885S ZC3H7B_ENST00000351589.4_Missense_Mutation_p.P885S NM_017590.4 NP_060060.3 Q9UGR2 Z3H7B_HUMAN zinc finger CCCH-type containing 7B 901 interspecies interaction between organisms nucleus nucleic acid binding|protein binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 38 CTTCCGCTTCCCCATGGGCGA 0.657000 18 162 0 0 1 0 0 CCDC70 83446 broad.mit.edu 37 13 52439880 52439880 + Nonsense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr13:52439880G>A ENST00000242819.4 + 2 662 c.366G>A c.(364-366)tgG>tgA p.W122* NM_031290.2 NP_112580.2 Q6NSX1 CCD70_HUMAN coiled-coil domain containing 70 122 extracellular region|plasma membrane p.W122*(1) breast(1)|large_intestine(4)|lung(7)|skin(2)|urinary_tract(1) 15 Breast(56;0.000207)|Lung NSC(96;0.00145)|Prostate(109;0.0107)|Hepatocellular(98;0.065)|all_neural(104;0.19) GBM - Glioblastoma multiforme(99;2.4e-08) AAACTTTCTGGAAAAAGTACC 0.468000 76 170 0 0 1 0 0 TRANK1 9881 broad.mit.edu 37 3 36875238 36875238 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:36875238G>A ENST00000429976.2 - 21 5951 c.5704C>T c.(5704-5706)Cgg>Tgg p.R1902W TRANK1_ENST00000428977.2_Missense_Mutation_p.R1352W|TRANK1_ENST00000301807.6_Missense_Mutation_p.R1352W O15050 TRNK1_HUMAN tetratricopeptide repeat and ankyrin repeat containing 1 1902 DNA repair ATP binding|ATP-dependent DNA helicase activity|DNA binding NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 73 AAGCGTTTCCGAGACTTCAAG 0.512000 60 112 0 0 1 0 0 ANKRD11 29123 broad.mit.edu 37 16 89348762 89348762 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr16:89348762G>A ENST00000301030.4 - 9 4648 c.4188C>T c.(4186-4188)ttC>ttT p.F1396F ANKRD11_ENST00000378330.2_Silent_p.F1396F NM_001256183.1|NM_013275.5 NP_001243112.1|NP_037407.4 Q6UB99 ANR11_HUMAN ankyrin repeat domain 11 1396 Lys-rich. nucleus breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 83 all_hematologic(23;0.00824)|Colorectal(91;0.0475) Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142) CCGCCTCCAGGAAGTCCTTTT 0.463000 7 133 0 0 1 0 0 RIN3 79890 broad.mit.edu 37 14 93119235 93119235 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr14:93119235C>T ENST00000216487.7 + 6 2000 c.1841C>T c.(1840-1842)tCg>tTg p.S614L RIN3_ENST00000418924.2_3'UTR NM_024832.3 NP_079108.3 Q8TB24 RIN3_HUMAN Ras and Rab interactor 3 614 Interaction with RAB5B. endocytosis|signal transduction cytoplasmic membrane-bounded vesicle|early endosome GTPase activator activity|Ras GTPase binding endometrium(4)|kidney(2)|large_intestine(7)|lung(19)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 36 all_cancers(154;0.0701) GACAAGGGCTCGTACTTTGGC 0.582000 27 44 0 0 1 0 0 CACNA1G 8913 broad.mit.edu 37 17 48649318 48649318 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:48649318C>T ENST00000352832.5 + 5 1038 c.666C>T c.(664-666)ttC>ttT p.F222F CACNA1G_ENST00000515411.1_Silent_p.F222F|CACNA1G_ENST00000514717.1_Silent_p.F222F|CACNA1G_ENST00000429973.2_Silent_p.F222F|CACNA1G_ENST00000503485.1_Silent_p.F222F|CACNA1G_ENST00000514181.1_Silent_p.F222F|CACNA1G_ENST00000515165.1_Silent_p.F222F|CACNA1G_ENST00000514079.1_Silent_p.F222F|CACNA1G_ENST00000416767.4_Silent_p.F222F|CACNA1G_ENST00000359106.5_Silent_p.F222F|CACNA1G_ENST00000505165.1_Silent_p.F222F|CACNA1G_ENST00000513964.1_Silent_p.F222F|CACNA1G_ENST00000502264.1_Silent_p.F222F|CACNA1G_ENST00000358244.5_Silent_p.F222F|CACNA1G_ENST00000512389.1_Silent_p.F222F|CACNA1G_ENST00000510115.1_Silent_p.F222F|CACNA1G_ENST00000510366.1_Silent_p.F222F|CACNA1G_ENST00000360761.4_Silent_p.F222F|CACNA1G_ENST00000513689.2_Silent_p.F222F|CACNA1G_ENST00000507336.1_Silent_p.F222F|CACNA1G_ENST00000442258.2_Silent_p.F222F|CACNA1G_ENST00000507510.2_Silent_p.F222F|CACNA1G_ENST00000354983.4_Silent_p.F222F|CACNA1G_ENST00000507609.1_Silent_p.F222F|CACNA1G_ENST00000515765.1_Silent_p.F222F|CACNA1G_ENST00000507896.1_Silent_p.F222F NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2 NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1 O43497 CAC1G_HUMAN calcium channel, voltage-dependent, T type, alpha 1G subunit 222 axon guidance voltage-gated calcium channel complex low voltage-gated calcium channel activity breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23) 47 Breast(11;6.7e-17) BRCA - Breast invasive adenocarcinoma(22;7.52e-09) Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909) TCTTCGTCTTCTTCATCTTCG 0.602000 43 57 0 0 1 0 0 PCLO 27445 broad.mit.edu 37 7 82544610 82544610 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:82544610G>A ENST00000423517.2 - 7 13029 c.12692C>T c.(12691-12693)tCc>tTc p.S4231F PCLO_ENST00000333891.8_Missense_Mutation_p.S4231F|PCLO_ENST00000437081.1_Missense_Mutation_p.S951F NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 4162 Ser-rich. cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity p.S4231F(1) breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 TGCCCTGGAGGAAATGCCACC 0.388000 6 91 0 0 1 0 0 DNAJC6 9829 broad.mit.edu 37 1 65845198 65845198 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:65845198C>T ENST00000395325.3 + 5 643 c.486C>T c.(484-486)gtC>gtT p.V162V DNAJC6_ENST00000371069.4_Silent_p.V219V|DNAJC6_ENST00000263441.7_Silent_p.V149V NM_014787.3 NP_055602.1 O75061 AUXI_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 6 162 Phosphatase tensin-type. cellular membrane organization|post-Golgi vesicle-mediated transport cytosol heat shock protein binding|protein tyrosine phosphatase activity|SH3 domain binding NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(22)|ovary(1)|prostate(2)|skin(1) 39 TCTGTGTTGTCCACTGCTTGG 0.448000 9 268 0 0 1 0 0 DNAH11 8701 broad.mit.edu 37 7 21695476 21695476 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:21695476C>T ENST00000328843.6 + 29 5017 c.4986C>T c.(4984-4986)ttC>ttT p.F1662F DNAH11_ENST00000409508.3_Silent_p.F1657F Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 1662 Stem (By similarity). microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 230 CCAAACTTTTCGACAGCATTG 0.383000 Kartagener syndrome 10 33 0 0 1 0 0 POU5F2 134187 broad.mit.edu 37 5 93076323 93076323 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:93076323G>A ENST00000510627.4 - 1 1020 c.947C>T c.(946-948)tCc>tTc p.S316F FAM172A_ENST00000395965.3_Intron|POU5F2_ENST00000606183.1_5'UTR|FAM172A_ENST00000505869.1_Intron|FAM172A_ENST00000509163.1_Intron|FAM172A_ENST00000509739.1_Intron NM_153216.1 NP_694948.1 Q8N7G0 PO5F2_HUMAN POU domain class 5, transcription factor 2 316 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity all_cancers(142;3.87e-05)|all_epithelial(76;4.59e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19) UCEC - Uterine corpus endometrioid carcinoma (5;0.0415)|all cancers(79;2.03e-19) TGGGGCAGAGGAGTGGGCTAC 0.612000 23 59 0 0 1 0 0 PDE3A 5139 broad.mit.edu 37 12 20832992 20832992 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:20832992C>T ENST00000359062.3 + 16 3253 c.3213C>T c.(3211-3213)atC>atT p.I1071I PDE3A_ENST00000544307.1_3'UTR NM_000921.4|NM_001244683.1 NP_000912.3|NP_001231612.1 Q14432 PDE3A_HUMAN phosphodiesterase 3A, cGMP-inhibited 1071 Catalytic (By similarity). lipid metabolic process|platelet activation|signal transduction cytosol|integral to membrane 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 58 Esophageal squamous(101;0.125) Breast(259;0.134) Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277) GGAGAAAAATCTACTGCCAAA 0.373000 28 71 0 0 1 0 0 SSPO 23145 broad.mit.edu 37 7 149509411 149509411 + RNA SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:149509411G>A ENST00000378016.2 + 0 9809 A2VEC9 SSPO_HUMAN SCO-spondin cell adhesion extracellular space peptidase inhibitor activity Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) AGCTGTGGGGGAGGCCTGCGG 0.721000 6 22 0 0 1 0 0 NTRK3 4916 broad.mit.edu 37 15 88483910 88483910 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr15:88483910G>A ENST00000394480.1 - 15 1981 c.1660C>T c.(1660-1662)Ctg>Ttg p.L554L NTRK3_ENST00000557856.1_Silent_p.L546L|NTRK3_ENST00000558676.1_Silent_p.L546L|NTRK3_ENST00000357724.2_Silent_p.L546L|NTRK3_ENST00000542733.2_Silent_p.L456L|NTRK3_ENST00000355254.2_Silent_p.L554L|NTRK3_ENST00000360948.2_Silent_p.L554L NM_001243101.1|NM_002530.3 NP_001230030.1|NP_002521.2 Q16288 NTRK3_HUMAN neurotrophic tyrosine kinase, receptor, type 3 554 Protein kinase. transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity ETV6/NTRK3(238) breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2) 119 BRCA - Breast invasive adenocarcinoma(143;0.211) CACTCGGCCAGGAAGACCTTT 0.572000 T ETV6 """congenital fibrosarcoma, Secretory breast """ TSP Lung(13;0.10) 57 111 0 0 1 0 0 LOC101927079 101927079 broad.mit.edu 37 15 22332401 22332401 + RNA SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr15:22332401C>T ENST00000558896.1 + 0 208 ACTTGATATTCTTGGCTTGAT 0.328000 5 87 0 0 1 0 0 WISP1 8840 broad.mit.edu 37 8 134232879 134232879 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:134232879C>T ENST00000250160.6 + 3 511 c.405C>T c.(403-405)tcC>tcT p.S135S WISP1_ENST00000519433.1_Intron|WISP1_ENST00000220856.6_Intron|WISP1_ENST00000517423.1_Intron|WISP1_ENST00000377863.2_Intron NM_003882.3 NP_003873.1 O95388 WISP1_HUMAN WNT1 inducible signaling pathway protein 1 135 VWFC. cell adhesion|cell-cell signaling|regulation of cell growth|Wnt receptor signaling pathway extracellular region|soluble fraction insulin-like growth factor binding central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 21 all_epithelial(106;5.39e-23)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0107) ACGGCCAGTCCTTCCAGCCTA 0.672000 83 123 0 0 1 0 0 EPYC 1833 broad.mit.edu 37 12 91396269 91396269 + Missense_Mutation SNP G G T rs142841602 TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:91396269G>T ENST00000261172.3 - 2 166 c.74C>A c.(73-75)tCc>tAc p.S25Y NM_004950.4 NP_004941.2 Q99645 EPYC_HUMAN epiphycan 25 female pregnancy proteinaceous extracellular matrix glycosaminoglycan binding NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(8)|skin(2) 18 ATAGTTGATGGACTCTAGAGT 0.378000 13 121 2.23348e-06 2.24224e-06 1 1 0 PRDM16 63976 broad.mit.edu 37 1 3313147 3313147 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:3313147C>T ENST00000378398.3 + 6 751 c.669C>T c.(667-669)ccC>ccT p.P223P PRDM16_ENST00000514189.1_Silent_p.P223P|PRDM16_ENST00000378391.2_Silent_p.P222P|PRDM16_ENST00000511072.1_Silent_p.P223P|PRDM16_ENST00000512462.1_3'UTR|PRDM16_ENST00000442529.2_Silent_p.P222P|PRDM16_ENST00000441472.2_Silent_p.P222P|PRDM16_ENST00000270722.5_Silent_p.P222P Q9HAZ2 PRD16_HUMAN PR domain containing 16 222 brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent transcriptional repressor complex protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3) 59 all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111) all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134) Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137) CAGTGCCGCCCGGCCTGGACG 0.637000 T EVI1 """MDS, AML""" 4 7 0 0 1 0 0 ADAMTS20 80070 broad.mit.edu 37 12 43822238 43822238 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:43822238G>A ENST00000389420.3 - 26 3750 c.3751C>T c.(3751-3753)Cgc>Tgc p.R1251C ADAMTS20_ENST00000395541.2_Missense_Mutation_p.R369C|ADAMTS20_ENST00000553158.1_Missense_Mutation_p.R1251C NM_025003.3 NP_079279.3 P59510 ATS20_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 20 1251 TSP type-1 8. proteinaceous extracellular matrix zinc ion binding breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1) 95 all_cancers(12;2.6e-05)|Lung SC(27;0.184) Lung NSC(34;0.0569)|all_lung(34;0.129) GBM - Glioblastoma multiforme(48;0.0473) ATCAAAGGGCGAACTTCAGGA 0.478000 18 42 0 0 1 0 0 MKI67 4288 broad.mit.edu 37 10 129903161 129903161 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:129903161C>T ENST00000368654.3 - 13 7318 c.6943G>A c.(6943-6945)Gac>Aac p.D2315N MKI67_ENST00000368653.3_Missense_Mutation_p.D1955N NM_002417.4 NP_002408.3 P46013 KI67_HUMAN marker of proliferation Ki-67 2315 16 X 122 AA approximate repeats. cell proliferation nucleolus ATP binding|protein C-terminus binding NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4) 159 all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203) CCAGCCAGGTCTTCTAGAGCC 0.488000 17 445 0 0 1 0 0 SLAMF7 57823 broad.mit.edu 37 1 160719730 160719730 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:160719730G>A ENST00000368043.3 + 3 533 c.496G>A c.(496-498)Gcc>Acc p.A166T SLAMF7_ENST00000368042.3_Missense_Mutation_p.A59T|SLAMF7_ENST00000458104.2_Missense_Mutation_p.A59T|SLAMF7_ENST00000359331.4_Missense_Mutation_p.A166T|SLAMF7_ENST00000444090.2_Intron|SLAMF7_ENST00000458602.2_Missense_Mutation_p.A59T|SLAMF7_ENST00000441662.2_Intron NM_021181.3 NP_067004.3 Q9NQ25 SLAF7_HUMAN SLAM family member 7 166 Ig-like C2-type. cell adhesion|natural killer cell activation|natural killer cell mediated cytotoxicity integral to membrane receptor activity breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(4) 24 all_cancers(52;2.63e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.0175) TACCTGGAAGGCCCTGGGGCA 0.517000 49 178 0 0 1 0 0 CAPN11 11131 broad.mit.edu 37 6 44147811 44147811 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:44147811G>A ENST00000542245.1 + 14 1589 c.1551G>A c.(1549-1551)ggG>ggA p.G517G CAPN11_ENST00000398776.1_Silent_p.G517G Q9UMQ6 CAN11_HUMAN calpain 11 517 Domain III. proteolysis acrosomal vesicle calcium ion binding|calcium-dependent cysteine-type endopeptidase activity breast(3)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1) 36 all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) TGCCTCCGGGGGAATATATCA 0.532000 8 160 0 0 1 0 0 CFHR3 10878 broad.mit.edu 37 1 196757391 196757391 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:196757391C>T ENST00000471440.2 + 4 550 c.476C>T c.(475-477)tCc>tTc p.S159F CFHR3_ENST00000391985.3_Intron|CFHR3_ENST00000367425.4_Missense_Mutation_p.S159F complement factor H-related 3 breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1) 18 GGATTCATTTCCGAATCTTCC 0.254000 4 104 0 0 1 0 0 ADCY3 109 broad.mit.edu 37 2 25141276 25141276 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:25141276G>A ENST00000260600.5 - 1 1432 c.581C>T c.(580-582)tCc>tTc p.S194F NM_004036.3 NP_004027.2 O60266 ADCY3_HUMAN adenylate cyclase 3 194 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|sensory perception of smell|synaptic transmission|transmembrane transport|water transport cytoplasm|integral to plasma membrane ATP binding|calmodulin binding|metal ion binding NS(1)|breast(5)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(4)|skin(2) 44 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203) GGAGACCACGGAGATGATCAC 0.632000 6 90 0 0 1 0 0 ILF3 3609 broad.mit.edu 37 19 10790537 10790537 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:10790537C>T ENST00000449870.1 + 8 1110 c.793C>T c.(793-795)Ccg>Tcg p.P265S ILF3_ENST00000407004.3_Missense_Mutation_p.P265S|ILF3_ENST00000592763.1_Missense_Mutation_p.P265S|ILF3_ENST00000588657.1_Missense_Mutation_p.P265S|ILF3_ENST00000420083.1_Missense_Mutation_p.P265S|ILF3_ENST00000250241.8_Missense_Mutation_p.P265S|ILF3_ENST00000589998.1_Missense_Mutation_p.P265S|ILF3_ENST00000590261.1_Missense_Mutation_p.P265S|ILF3_ENST00000318511.3_Missense_Mutation_p.P265S NM_017620.2 NP_060090.2 Q12906 ILF3_HUMAN interleukin enhancer binding factor 3, 90kDa 265 DZF. M phase|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent mitochondrion|nucleolus|ribonucleoprotein complex DNA binding|double-stranded RNA binding|protein binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 31 Epithelial(33;6.86e-06)|all cancers(31;1.65e-05) GGCCAACAGACCGATGGGTGC 0.627000 19 43 0 0 1 0 0 NCOR2 9612 broad.mit.edu 37 12 124824877 124824877 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:124824877G>A ENST00000356219.3 - 37 5627 c.5472C>T c.(5470-5472)tcC>tcT p.S1824S NCOR2_ENST00000405201.1_Silent_p.S1817S|NCOR2_ENST00000404121.2_Silent_p.S1378S|NCOR2_ENST00000397355.1_Silent_p.S1808S|NCOR2_ENST00000429285.2_Silent_p.S1807S|NCOR2_ENST00000404621.1_Silent_p.S1807S NM_006312.5 NP_006303.4 Q9Y618 NCOR2_HUMAN nuclear receptor corepressor 2 1825 cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent nuclear body|nucleus|transcriptional repressor complex DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 all_neural(191;0.0804)|Medulloblastoma(191;0.163) Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764) CCGTCGTGGTGGACGTGAGGA 0.667000 11 47 0 0 1 0 0 GPR176 11245 broad.mit.edu 37 15 40093614 40093614 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr15:40093614G>A ENST00000299092.3 - 4 1462 c.1264C>T c.(1264-1266)Cca>Tca p.P422S GPR176_ENST00000543580.1_Missense_Mutation_p.P378S|GPR176_ENST00000561100.1_Missense_Mutation_p.P423S NM_001271854.1|NM_001271855.1 NP_001258783.1|NP_001258784.1 Q14439 GP176_HUMAN G protein-coupled receptor 176 423 synaptic transmission integral to plasma membrane G-protein coupled receptor activity central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(9)|ovary(2)|pancreas(1)|skin(2) 23 all_cancers(109;4.05e-15)|all_epithelial(112;2.96e-13)|Lung NSC(122;8.53e-11)|all_lung(180;2.71e-09)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243) GBM - Glioblastoma multiforme(113;4.4e-06)|BRCA - Breast invasive adenocarcinoma(123;0.123) CTCAGGGGTGGGGCAGAGGGC 0.577000 87 190 0 0 1 0 0 LHCGR 3973 broad.mit.edu 37 2 48952829 48952829 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:48952829G>A ENST00000294954.7 - 4 390 c.369C>T c.(367-369)ccC>ccT p.P123P LHCGR_ENST00000344775.3_Silent_p.P123P|LHCGR_ENST00000405626.1_Silent_p.P123P|STON1-GTF2A1L_ENST00000402114.2_Intron|LHCGR_ENST00000401907.1_Silent_p.P123P|LHCGR_ENST00000403273.1_Silent_p.P123P NM_000233.3 NP_000224.2 P22888 LSHR_HUMAN luteinizing hormone/choriogonadotropin receptor 123 male genitalia development|male gonad development endosome|integral to plasma membrane luteinizing hormone receptor activity NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(3)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 56 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032) ATTTTAATCGGGGAAGATTTA 0.368000 89 129 0 0 1 0 0 FKBP14 55033 broad.mit.edu 37 7 30054432 30054432 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:30054432C>T ENST00000222803.5 - 4 730 c.555G>A c.(553-555)gaG>gaA p.E185E AC007285.6_ENST00000422239.1_RNA|AC007285.6_ENST00000419103.1_RNA NM_017946.3 NP_060416.1 Q9NWM8 FKB14_HUMAN FK506 binding protein 14, 22 kDa 185 EF-hand 2. protein folding endoplasmic reticulum lumen|membrane calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity breast(1)|large_intestine(2)|lung(2) 5 CAAAAATATCCTCCACCAAAG 0.333000 43 49 0 0 1 0 0 SPATA31D1 389763 broad.mit.edu 37 9 84607262 84607262 + Nonsense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:84607262G>A ENST00000344803.2 + 4 1924 c.1877G>A c.(1876-1878)tGg>tAg p.W626* NM_001001670.2 NP_001001670.1 SPATA31 subfamily D, member 1 CATCTGGAGTGGAACGTGTTG 0.473000 5 108 0 0 1 0 0 IL2RB 3560 broad.mit.edu 37 22 37524499 37524499 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr22:37524499G>A ENST00000216223.5 - 10 1491 c.1293C>T c.(1291-1293)tcC>tcT p.S431S NM_000878.3 NP_000869.1 P14784 IL2RB_HUMAN interleukin 2 receptor, beta 431 interspecies interaction between organisms|positive regulation of survival gene product expression|protein complex assembly external side of plasma membrane|integral to plasma membrane interleukin-2 receptor activity breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(5) 23 Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004) GGAGACTGGGGGAGAAGAGCA 0.667000 15 39 0 0 1 0 0 LZTS3 9762 broad.mit.edu 37 20 3147606 3147606 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr20:3147606G>A ENST00000329152.3 - 1 1601 c.204C>T c.(202-204)ttC>ttT p.F68F LZTS3_ENST00000360342.3_Silent_p.F68F|LZTS3_ENST00000337576.5_Silent_p.F68F NM_014731.2 NP_055546.1 GGGGGCCAGGGAAACTGCCCT 0.687000 14 28 0 0 1 0 0 PDE8B 8622 broad.mit.edu 37 5 76703282 76703282 + Splice_Site SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:76703282G>A ENST00000264917.5 + 13 1410 c.1365_splice c.e13+1 p.K455_splice PDE8B_ENST00000346042.3_Splice_Site_p.K358_splice|PDE8B_ENST00000342343.4_Splice_Site_p.K435_splice|PDE8B_ENST00000333194.4_Splice_Site_p.K455_splice|PDE8B_ENST00000340978.3_Splice_Site_p.K408_splice NM_003719.3 NP_003710.1 O95263 PDE8B_HUMAN phosphodiesterase 8B 455 cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent cytosol 3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity GMDS/PDE8B(2) NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(15)|ovary(1)|prostate(2)|skin(3) 40 all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605) OV - Ovarian serous cystadenocarcinoma(54;2.21e-49)|Epithelial(54;5.82e-43)|all cancers(79;4.06e-38) CCATCACAAAGGTGAGTGGCG 0.567000 25 74 0 0 1 0 0 DPCR1 135656 broad.mit.edu 37 6 30920103 30920103 + Missense_Mutation SNP A A C TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:30920103A>C ENST00000462446.1 + 2 3890 c.3862A>C c.(3862-3864)Aca>Cca p.T1288P DPCR1_ENST00000304311.2_Missense_Mutation_p.T130P|HCG21_ENST00000419481.1_RNA Q3MIW9 DPCR1_HUMAN diffuse panbronchiolitis critical region 1 412 integral to membrane endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|pancreas(1) 10 GAGTTCTATCACATCAGAAGC 0.443000 49 145 0 0 1 0 0 OR4A16 81327 broad.mit.edu 37 11 55110932 55110932 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:55110932G>A ENST00000314721.2 + 1 306 c.256G>A c.(256-258)Gat>Aat p.D86N NM_001005274.1 NP_001005274.1 Q8NH70 O4A16_HUMAN olfactory receptor, family 4, subfamily A, member 16 86 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 51 CTTACTCTGTGATAAAATCGC 0.443000 85 193 0 0 1 0 0 OR2A14 135941 broad.mit.edu 37 7 143826558 143826558 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:143826558C>T ENST00000408899.2 + 1 408 c.353C>T c.(352-354)tCc>tTc p.S118F NM_001001659.1 NP_001001659.1 Q96R47 O2A14_HUMAN olfactory receptor, family 2, subfamily A, member 14 118 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(4)|lung(17)|skin(1) 22 Melanoma(164;0.0783) GTGGTGATGTCCTATGATCGC 0.483000 87 302 0 0 1 0 0 KEAP1 9817 broad.mit.edu 37 19 10602850 10602850 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:10602850G>A ENST00000171111.5 - 3 1275 c.728C>T c.(727-729)tCc>tTc p.S243F KEAP1_ENST00000393623.2_Missense_Mutation_p.S243F|KEAP1_ENST00000588024.1_5'UTR NM_203500.1 NP_987096.1 Q14145 KEAP1_HUMAN kelch-like ECH-associated protein 1 243 BACK. regulation of transcription, DNA-dependent|transcription, DNA-dependent centrosome|midbody|nucleus protein binding p.S243C(1) breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 92 OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05) GAAGACCTCGGACTCGCAGCG 0.632000 24 78 0 0 1 0 0 TRBV7-1 28597 broad.mit.edu 37 7 142032056 142032056 + RNA SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:142032056C>T ENST00000547918.2 + 0 51 CAAGGCTCCTCTGCTGGGCAG 0.562000 15 65 0 0 1 0 0 TCHHL1 126637 broad.mit.edu 37 1 152058000 152058000 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:152058000G>A ENST00000368806.1 - 3 2222 c.2158C>T c.(2158-2160)Ctg>Ttg p.L720L NM_001008536.1 NP_001008536.1 Q5QJ38 TCHL1_HUMAN trichohyalin-like 1 720 calcium ion binding breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1) 60 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.246) CTTTCTAACAGAGTATTCTGG 0.443000 149 135 0 0 1 0 0 CHRDL2 25884 broad.mit.edu 37 11 74415556 74415556 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:74415556G>A ENST00000376332.3 - 7 1222 c.726C>T c.(724-726)atC>atT p.I242I CHRDL2_ENST00000534159.1_5'UTR|CHRDL2_ENST00000263671.5_Silent_p.I242I NM_001278473.1 NP_001265402.1 Q6WN34 CRDL2_HUMAN chordin-like 2 242 cartilage development|cell differentiation|ossification extracellular region|mitochondrion endometrium(1)|kidney(1)|large_intestine(6)|lung(4)|prostate(1)|skin(2) 15 Hepatocellular(1;0.098) CCTTCAGGACGATCTTGACAG 0.637000 41 84 0 0 1 0 0 PTPRE 5791 broad.mit.edu 37 10 129868615 129868615 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:129868615G>A ENST00000254667.3 + 14 1473 c.1194G>A c.(1192-1194)ggG>ggA p.G398G PTPRE_ENST00000419012.2_Silent_p.G398G|PTPRE_ENST00000306042.5_Silent_p.G340G NM_006504.4 NP_006495.1 P23469 PTPRE_HUMAN protein tyrosine phosphatase, receptor type, E 398 negative regulation of insulin receptor signaling pathway|protein phosphorylation cytoplasm|integral to membrane|intermediate filament cytoskeleton|nucleus|plasma membrane transmembrane receptor protein tyrosine phosphatase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 22 all_epithelial(44;1.66e-05)|all_lung(145;0.00456)|Lung NSC(174;0.0066)|all_neural(114;0.0936)|Colorectal(57;0.141)|Breast(234;0.166)|Melanoma(40;0.203) ACCTCTACGGGGACACAGAGC 0.592000 35 62 0 0 1 0 0 CILP 8483 broad.mit.edu 37 15 65502060 65502060 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr15:65502060G>A ENST00000261883.4 - 2 200 c.34C>T c.(34-36)Ctg>Ttg p.L12L NM_003613.3 NP_003604.3 O75339 CILP1_HUMAN cartilage intermediate layer protein, nucleotide pyrophosphohydrolase 12 negative regulation of insulin-like growth factor receptor signaling pathway extracellular matrix part|extracellular space|proteinaceous extracellular matrix breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1) 55 TCCAGGACCAGGAAGGAGAAC 0.547000 10 94 0 0 1 0 0 FBXO43 286151 broad.mit.edu 37 8 101153324 101153324 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:101153324G>A ENST00000428847.2 - 2 1474 c.1158C>T c.(1156-1158)acC>acT p.T386T NM_001029860.3 NP_001025031.2 Q4G163 FBX43_HUMAN F-box protein 43 386 meiosis zinc ion binding endometrium(1)|kidney(4)|large_intestine(5)|lung(14)|prostate(1)|skin(5)|urinary_tract(1) 31 all_cancers(14;0.000139)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000274)|all_lung(17;0.000798) Epithelial(11;1.17e-09)|all cancers(13;1.34e-07)|OV - Ovarian serous cystadenocarcinoma(57;3.82e-05)|STAD - Stomach adenocarcinoma(118;0.0957) GTTCCCGAAGGGTGGACAGTC 0.483000 59 96 0 0 1 0 0 CACNG4 27092 broad.mit.edu 37 17 65021082 65021082 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:65021082C>T ENST00000262138.3 + 3 413 c.411C>T c.(409-411)atC>atT p.I137I NM_014405.3 NP_055220.1 Q9UBN1 CCG4_HUMAN calcium channel, voltage-dependent, gamma subunit 4 137 membrane depolarization|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane voltage-gated calcium channel activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(3) 19 all_cancers(12;9.86e-11) BRCA - Breast invasive adenocarcinoma(6;1.35e-07) AGAACAACATCGTCCTCAGTG 0.662000 51 162 0 0 1 0 0 TBC1D8B 54885 broad.mit.edu 37 X 106117053 106117053 + Missense_Mutation SNP A A G TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chrX:106117053A>G ENST00000357242.5 + 21 3395 c.3221A>G c.(3220-3222)cAg>cGg p.Q1074R TBC1D8B_ENST00000276175.3_Missense_Mutation_p.Q1068R NM_017752.2 NP_060222.2 Q0IIM8 TBC8B_HUMAN TBC1 domain family, member 8B (with GRAM domain) 1074 intracellular calcium ion binding|Rab GTPase activator activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|liver(4)|lung(15)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 47 GAGGAACCTCAGTGGTCATTT 0.448000 57 36 0 0 1 0 0 PCDHA6 56142 broad.mit.edu 37 5 140208965 140208965 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:140208965G>A ENST00000529310.1 + 1 1403 c.1289G>A c.(1288-1290)gGg>gAg p.G430E PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Missense_Mutation_p.G430E|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron NM_018909.2|NM_031848.1|NM_031849.1 NP_061732.1|NP_114036.1|NP_114037.1 NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 89 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCGCGGGACGGGGGCTCGCCT 0.622000 88 190 0 0 1 0 0 MACROD2 140733 broad.mit.edu 37 20 15210607 15210607 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr20:15210607C>T ENST00000217246.4 + 6 835 c.440C>T c.(439-441)cCa>cTa p.P147L MACROD2_ENST00000310348.4_Missense_Mutation_p.P147L|MACROD2_ENST00000402914.1_5'UTR NM_080676.5 NP_542407.2 A1Z1Q3 MACD2_HUMAN MACRO domain containing 2 147 Macro. breast(2)|kidney(4)|large_intestine(5)|lung(8)|skin(1) 20 all_neural(2;0.0381)|Acute lymphoblastic leukemia(2;0.175) ACTGTAGGGCCAATAGCCAGG 0.348000 22 54 0 0 1 0 0 KANSL3 55683 broad.mit.edu 37 2 97276591 97276591 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:97276591C>T ENST00000599854.1 - 11 1397 c.930G>A c.(928-930)aaG>aaA p.K310K KANSL3_ENST00000441706.2_Silent_p.K310K|KANSL3_ENST00000440133.1_Silent_p.K191K|KANSL3_ENST00000487070.1_5'UTR|KANSL3_ENST00000431828.1_Silent_p.K397K NM_001115016.2 NP_001108488.1 Q9P2N6 K1310_HUMAN KAT8 regulatory NSL complex subunit 3 397 GGACTGGAGTCTTCATATCCA 0.458000 78 135 0 0 1 0 0 DNAJC16 23341 broad.mit.edu 37 1 15886086 15886086 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:15886086C>T ENST00000375847.3 + 8 1253 c.1089C>T c.(1087-1089)gcC>gcT p.A363A DNAJC16_ENST00000375849.1_Silent_p.A363A|DNAJC16_ENST00000375838.1_Silent_p.A363A NM_015291.2 NP_056106.1 Q9Y2G8 DJC16_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 16 363 cell redox homeostasis|protein folding integral to membrane heat shock protein binding|unfolded protein binding central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(7)|urinary_tract(1) 18 Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00173)|all_lung(284;0.00459)|Lung NSC(340;0.00499)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657) TATTGGCAGCCAGGCTCACCA 0.453000 9 194 0 0 1 0 0 KLF9 687 broad.mit.edu 37 9 73002872 73002872 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:73002872G>A ENST00000377126.2 - 2 1815 c.555C>T c.(553-555)tcC>tcT p.S185S NM_001206.2 NP_001197.1 Q13886 KLF9_HUMAN Kruppel-like factor 9 185 regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(2)|kidney(3)|lung(1)|prostate(2)|urinary_tract(1) 9 CGTCTGAGCGGGAGAACTTTT 0.522000 4 55 0 0 1 0 0 CRB3 92359 broad.mit.edu 37 19 6466968 6466968 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:6466968C>T ENST00000356762.3 + 5 469 c.307C>T c.(307-309)Cat>Tat p.H103Y CRB3_ENST00000600229.1_3'UTR|CRB3_ENST00000598494.1_3'UTR NM_174881.2 NP_777377.1 Q9BUF7 CRUM3_HUMAN crumbs homolog 3 (Drosophila) 0 protein localization in plasma membrane|tight junction assembly apical plasma membrane|integral to membrane|tight junction SH3 domain binding endometrium(1)|large_intestine(1)|lung(1) 3 TCAGTTCTCCCATGCAGCCGA 0.637000 74 153 0 0 1 0 0 PPP4R4 57718 broad.mit.edu 37 14 94722940 94722940 + Splice_Site SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr14:94722940G>A ENST00000304338.3 + 17 2163 c.2010_splice c.e17+1 p.R670_splice NM_058237.1 NP_478144.1 Q6NUP7 PP4R4_HUMAN protein phosphatase 4, regulatory subunit 4 670 cytoplasm|protein serine/threonine phosphatase complex protein binding NS(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(15)|lung(10)|skin(7)|upper_aerodigestive_tract(2) 40 ATTGTAAAAAGAGTAAGTATC 0.353000 8 32 0 0 1 0 0 MASP1 5648 broad.mit.edu 37 3 186954068 186954068 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:186954068C>T ENST00000296280.6 - 11 1816 c.1591G>A c.(1591-1593)Gca>Aca p.A531T MASP1_ENST00000337774.5_Intron|MASP1_ENST00000392472.2_Missense_Mutation_p.A418T|MASP1_ENST00000495249.1_5'UTR NM_139125.3 NP_624302.1 P48740 MASP1_HUMAN mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor) 530 Peptidase S1. complement activation, lectin pathway|negative regulation of complement activation|proteolysis extracellular space calcium ion binding|calcium-dependent protein binding|protein binding|protein homodimerization activity|serine-type endopeptidase activity NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1) 60 all_cancers(143;5.33e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;3.49e-18) GBM - Glioblastoma multiforme(93;0.0366) CTGTTGACTGCCCCCGATTTG 0.572000 36 84 0 0 1 0 0 A1CF 29974 broad.mit.edu 37 10 52580350 52580350 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:52580350C>T ENST00000395489.2 - 10 1204 c.808G>A c.(808-810)Gaa>Aaa p.E270K A1CF_ENST00000373993.1_Missense_Mutation_p.E277K|A1CF_ENST00000395495.1_Missense_Mutation_p.E222K|A1CF_ENST00000374001.1_Missense_Mutation_p.E277K|A1CF_ENST00000373995.3_Missense_Mutation_p.E285K|A1CF_ENST00000373997.3_Missense_Mutation_p.E277K|A1CF_ENST00000493415.1_5'UTR|A1CF_ENST00000282641.2_Missense_Mutation_p.E277K NM_001198819.1 NP_001185748.1 Q9NQ94 A1CF_HUMAN APOBEC1 complementation factor 277 RRM 3. cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm nucleotide binding|protein binding|single-stranded RNA binding NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3) 29 ACTGCATCTTCTCGGTTACTG 0.383000 40 60 0 0 1 0 0 PLEK 5341 broad.mit.edu 37 2 68620305 68620305 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:68620305G>A ENST00000234313.7 + 7 953 c.774G>A c.(772-774)agG>agA p.R258R NM_002664.2 NP_002655.2 P08567 PLEK_HUMAN pleckstrin 258 PH 2. actin cytoskeleton reorganization|cortical actin cytoskeleton organization|hemopoietic progenitor cell differentiation|inhibition of phospholipase C activity involved in G-protein coupled receptor signaling pathway|integrin-mediated signaling pathway|negative regulation of calcium-mediated signaling|negative regulation of inositol phosphate biosynthetic process|phosphatidylinositol metabolic process|platelet aggregation|positive regulation of actin filament bundle assembly|positive regulation of actin filament depolymerization|positive regulation of inositol-polyphosphate 5-phosphatase activity|positive regulation of integrin activation|positive regulation of platelet activation|protein kinase C signaling cascade|protein secretion by platelet|regulation of cell diameter|ruffle organization|thrombin receptor signaling pathway|vesicle docking involved in exocytosis cytosol|extracellular region|membrane fraction|ruffle membrane|soluble fraction phosphatidylinositol-3,4-bisphosphate binding|protein homodimerization activity|protein kinase C binding autonomic_ganglia(1)|endometrium(3)|large_intestine(6)|lung(12)|ovary(1)|skin(1) 24 Ovarian(717;0.0129) STAD - Stomach adenocarcinoma(1183;0.00159)|READ - Rectum adenocarcinoma(193;0.0419) GGCATAGAAGGAAAAACTGGA 0.428000 57 152 0 0 1 0 0 ZNF354C 30832 broad.mit.edu 37 5 178505970 178505970 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:178505970G>A ENST00000315475.6 + 5 843 c.537G>A c.(535-537)caG>caA p.Q179Q NM_014594.1 NP_055409.1 Q86Y25 Z354C_HUMAN zinc finger protein 354C 179 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(1)|urinary_tract(3) 30 all_cancers(89;0.00065)|all_epithelial(37;0.000153)|Renal(175;0.000159)|Lung NSC(126;0.00175)|all_lung(126;0.00309) all_cancers(40;0.19)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.247) TCACACAACAGAGTGTTCCTA 0.353000 37 84 0 0 1 0 0 C1QTNF9B 387911 broad.mit.edu 37 13 24466002 24466002 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr13:24466002C>T ENST00000382137.3 - 3 496 c.428G>A c.(427-429)gGg>gAg p.G143E C1QTNF9B_ENST00000382057.3_Intron|C1QTNF9B-AS1_ENST00000382133.4_RNA|C1QTNF9B_ENST00000382140.2_Missense_Mutation_p.G143E|C1QTNF9B-AS1_ENST00000435039.2_RNA|C1QTNF9B_ENST00000556521.1_Intron|C1QTNF9B-AS1_ENST00000417034.1_RNA|C1QTNF9B_ENST00000382145.1_Intron NM_001007537.1 NP_001007538.1 B2RNN3 C1T9B_HUMAN C1q and tumor necrosis factor related protein 9B 143 Collagen-like 2. collagen breast(1)|central_nervous_system(1)|large_intestine(3)|lung(1) 6 GCCCAAAGGCCCAATGTTGCC 0.647000 16 52 0 0 1 0 0 SP7 121340 broad.mit.edu 37 12 53722076 53722076 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:53722076G>A ENST00000536324.2 - 3 1433 c.1150C>T c.(1150-1152)Cct>Tct p.P384S SP7_ENST00000537210.2_Missense_Mutation_p.P366S|SP7_ENST00000303846.3_Missense_Mutation_p.P384S NM_001173467.1 NP_001166938.1 Q8TDD2 SP7_HUMAN Sp7 transcription factor 384 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding cervix(2)|large_intestine(3)|lung(7)|skin(1)|urinary_tract(1) 14 CCACTGGGAGGGGGACCCGGG 0.662000 OREG0021867 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 10 40 0 0 1 0 0 FHDC1 85462 broad.mit.edu 37 4 153864420 153864420 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:153864420C>T ENST00000511601.1 + 2 399 c.211C>T c.(211-213)Ccc>Tcc p.P71S FHDC1_ENST00000260008.3_Missense_Mutation_p.P71S Q9C0D6 FHDC1_HUMAN FH2 domain containing 1 71 actin cytoskeleton organization actin binding ARFIP1/FHDC1(2) NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 43 all_hematologic(180;0.093) TGGGGAGCCTCCCATCCCACC 0.567000 31 22 0 0 1 0 0 VPS52 6293 broad.mit.edu 37 6 33235047 33235047 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:33235047C>T ENST00000445902.2 - 11 1261 c.1043G>A c.(1042-1044)gGa>gAa p.G348E VPS52_ENST00000478934.1_Intron|VPS52_ENST00000482399.1_3'UTR|VPS52_ENST00000436044.2_Missense_Mutation_p.G223E NM_022553.4 NP_072047.4 Q8N1B4 VPS52_HUMAN vacuolar protein sorting 52 homolog (S. cerevisiae) 348 protein transport endosome membrane|Golgi apparatus endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(8)|ovary(4)|skin(1)|upper_aerodigestive_tract(1) 28 GCCGCGGGTTCCTAGGGTGAA 0.567000 39 130 0 0 1 0 0 PCLO 27445 broad.mit.edu 37 7 82544307 82544307 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:82544307G>A ENST00000423517.2 - 7 13332 c.12995C>T c.(12994-12996)tCa>tTa p.S4332L PCLO_ENST00000333891.8_Missense_Mutation_p.S4332L|PCLO_ENST00000437081.1_Missense_Mutation_p.S1052L NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 4263 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 GGCAGAGGATGATGCATGACT 0.423000 24 99 0 0 1 0 0 GALNTL5 168391 broad.mit.edu 37 7 151700020 151700020 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:151700020G>A ENST00000392800.2 + 6 1134 c.880G>A c.(880-882)Gga>Aga p.G294R GALNTL5_ENST00000483959.1_3'UTR|GALNTL5_ENST00000431418.2_Missense_Mutation_p.G294R NM_145292.3 NP_660335.2 Q7Z4T8 GLTL5_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 5 294 Golgi membrane|integral to membrane transferase activity, transferring glycosyl groups NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(11)|ovary(2)|prostate(2)|skin(3) 32 all_neural(206;0.187) all_hematologic(28;0.0749) OV - Ovarian serous cystadenocarcinoma(82;0.00427) UCEC - Uterine corpus endometrioid carcinoma (81;0.18)|BRCA - Breast invasive adenocarcinoma(188;0.166) TGAGATGGATGGACCAGAAGG 0.408000 8 180 0 0 1 0 0 LRP1 4035 broad.mit.edu 37 12 57604142 57604142 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:57604142C>T ENST00000243077.3 + 82 13099 c.12633C>T c.(12631-12633)ttC>ttT p.F4211F NM_002332.2 NP_002323.2 Q07954 LRP1_HUMAN low density lipoprotein receptor-related protein 1 4211 EGF-like 17. aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity coated pit|integral to plasma membrane|nucleus apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 184 BRCA - Breast invasive adenocarcinoma(357;0.0103) Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031) GCAGCTGTTTCCTCAATGCAC 0.627000 47 79 0 0 1 0 0 LCE4A 199834 broad.mit.edu 37 1 152681657 152681657 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:152681657C>T ENST00000368777.1 + 2 362 c.106C>T c.(106-108)Cca>Tca p.P36S LCE4A_ENST00000335535.3_Missense_Mutation_p.P36S Q5TA78 LCE4A_HUMAN late cornified envelope 4A 36 Cys-rich. keratinization endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1) 10 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.116) ATGCCCACCTCCAATCTCTTC 0.597000 73 214 0 0 1 0 0 PPP1R9A 55607 broad.mit.edu 37 7 94750136 94750136 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:94750136G>A ENST00000289495.5 + 3 1857 c.1641G>A c.(1639-1641)cgG>cgA p.R547R PPP1R9A_ENST00000424654.1_Silent_p.R547R|PPP1R9A_ENST00000456331.2_Silent_p.R547R|PPP1R9A_ENST00000340694.4_Silent_p.R547R|PPP1R9A_ENST00000433360.1_Silent_p.R547R|PPP1R9A_ENST00000433881.1_Silent_p.R547R NM_001166161.1 NP_001159633.1 Q9ULJ8 NEB1_HUMAN protein phosphatase 1, regulatory subunit 9A 547 PDZ. cell junction|synapse|synaptosome actin binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5) 71 all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09) STAD - Stomach adenocarcinoma(171;0.0031) CTGCTCAACGGGATGGCAGGT 0.388000 HNSCC(28;0.073) 59 195 0 0 1 0 0 ASXL3 80816 broad.mit.edu 37 18 31319743 31319743 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr18:31319743C>T ENST00000269197.5 + 11 2375 c.2375C>T c.(2374-2376)cCt>cTt p.P792L NM_030632.1 NP_085135.1 Q9C0F0 ASXL3_HUMAN additional sex combs like 3 (Drosophila) 792 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1) 43 ACTGCCAAACCTCTGGGAGAG 0.473000 13 37 0 0 1 0 0 PLXNA3 55558 broad.mit.edu 37 X 153692789 153692789 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chrX:153692789G>A ENST00000369682.3 + 9 2048 c.1873G>A c.(1873-1875)Ggc>Agc p.G625S NM_017514.3 NP_059984.2 P51805 PLXA3_HUMAN plexin A3 625 axon guidance integral to membrane|intracellular|plasma membrane transmembrane receptor activity breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 48 all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) CAAGGAGACAGGCGTGAGGTT 0.652000 36 49 0 0 1 0 0 SMU1 55234 broad.mit.edu 37 9 33068887 33068887 + Missense_Mutation SNP C C A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:33068887C>A ENST00000397149.3 - 4 486 c.436G>T c.(436-438)Gcc>Tcc p.A146S SMU1_ENST00000536631.1_5'UTR NM_018225.2 NP_060695.2 Q2TAY7 SMU1_HUMAN smu-1 suppressor of mec-8 and unc-52 homolog (C. elegans) 146 cytoplasm|nucleus endometrium(2)|lung(4)|ovary(2)|prostate(1) 9 LUSC - Lung squamous cell carcinoma(29;0.0227) GBM - Glioblastoma multiforme(74;0.11) AAGGCCTGGGCAATTGCTGCT 0.493000 29 45 2.85442e-18 2.88133e-18 1 1 0 SPATS2L 26010 broad.mit.edu 37 2 201337685 201337685 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:201337685C>T ENST00000409988.3 + 12 1714 c.1191C>T c.(1189-1191)ccC>ccT p.P397P SPATS2L_ENST00000451764.2_Silent_p.P397P|SPATS2L_ENST00000409755.3_Silent_p.P427P|SPATS2L_ENST00000409140.3_Silent_p.P397P|SPATS2L_ENST00000409151.1_Silent_p.P405P|SPATS2L_ENST00000409718.1_Silent_p.P397P|SPATS2L_ENST00000460095.1_3'UTR|SPATS2L_ENST00000358677.4_Silent_p.P397P|SPATS2L_ENST00000360760.5_Silent_p.P328P|SPATS2L_ENST00000409385.1_Silent_p.P337P NM_001100422.1 NP_001093892.1 Q9NUQ6 SPS2L_HUMAN spermatogenesis associated, serine-rich 2-like 397 cytoplasm|nucleolus endometrium(1)|kidney(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1) 10 ACAATAAGCCCTCTGAAGGCA 0.572000 5 79 0 0 1 0 0 CMIP 80790 broad.mit.edu 37 16 81703748 81703748 + Splice_Site SNP A A C TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr16:81703748A>C ENST00000537098.3 + 8 899 c.825_splice c.e8-1 p.D276_splice CMIP_ENST00000398040.4_Splice_Site_p.D123_splice|CMIP_ENST00000539778.2_Splice_Site_p.D182_splice|CMIP_ENST00000566513.1_3'UTR NM_198390.2 NP_938204.2 Q8IY22 CMIP_HUMAN c-Maf inducing protein 242 cytoplasm|nucleus endometrium(5)|kidney(1)|lung(7) 13 TCTCCACAGGACTTTGGGAAG 0.597000 6 10 0 0 1 0 0 DNAH17 8632 broad.mit.edu 37 17 76482380 76482380 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:76482380G>A ENST00000389840.5 - 45 7109 c.6985C>T c.(6985-6987)Ccc>Tcc p.P2329S RP11-559N14.5_ENST00000585969.1_RNA|DNAH17_ENST00000585328.1_Missense_Mutation_p.P2338S|DNAH17_ENST00000586052.1_5'UTR dynein, axonemal, heavy chain 17 NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 116 BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656) AGCTCCCTGGGGGAGTCGGGG 0.622000 32 93 0 0 1 0 0 IRS4 8471 broad.mit.edu 37 X 107976655 107976655 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chrX:107976655C>T ENST00000372129.2 - 1 2996 c.2920G>A c.(2920-2922)Gac>Aac p.D974N NM_003604.2 NP_003595.1 O14654 IRS4_HUMAN insulin receptor substrate 4 974 plasma membrane insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1) 78 TCTGAGAGGTCGTTTGCTGGA 0.483000 5 160 0 0 1 0 0 ING1 3621 broad.mit.edu 37 13 111372079 111372079 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr13:111372079C>T ENST00000375774.3 + 2 1531 c.1069C>T c.(1069-1071)Ctg>Ttg p.L357L ING1_ENST00000375775.3_Silent_p.L145L|ING1_ENST00000333219.7_Silent_p.L214L|ING1_ENST00000338450.7_Silent_p.L170L NM_005537.4 NP_005528.3 Q9UK53 ING1_HUMAN inhibitor of growth family, member 1 357 cell cycle|negative regulation of cell growth|negative regulation of cell proliferation nucleus zinc ion binding endometrium(4)|large_intestine(6)|lung(1)|ovary(1) 12 all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148) BRCA - Breast invasive adenocarcinoma(86;0.188) CACGTACTGTCTGTGCAACCA 0.607000 10 95 0 0 1 0 0 ADNP2 22850 broad.mit.edu 37 18 77894554 77894554 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr18:77894554C>T ENST00000262198.4 + 4 1713 c.1258C>T c.(1258-1260)Cct>Tct p.P420S NM_014913.3 NP_055728.1 Q6IQ32 ADNP2_HUMAN ADNP homeobox 2 420 Pro-rich. cellular response to oxidative stress|cellular response to retinoic acid|negative regulation of cell death|neuron differentiation|positive regulation of cell growth nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|liver(1)|lung(15)|ovary(5)|prostate(2) 42 all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2) Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164) TGGTGTTCTTCCTGTGAGCCC 0.607000 55 80 0 0 1 0 0 SOX7 83595 broad.mit.edu 37 8 10584176 10584176 + Splice_Site SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:10584176C>T ENST00000304501.1 - 2 317 c.238_splice c.e2-1 p.G80_splice SOX7_ENST00000553390.1_Splice_Site_p.G132_splice|SOX7_ENST00000554914.1_Splice_Site_p.G132_splice NM_031439.2 NP_113627.1 Q9BT81 SOX7_HUMAN SRY (sex determining region Y)-box 7 80 endoderm formation|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of caspase activity|regulation of canonical Wnt receptor signaling pathway cytoplasm|nucleus transcription regulatory region DNA binding breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 20 COAD - Colon adenocarcinoma(149;0.0732) CCACGACTTTCCTGCTCACAC 0.627000 22 51 0 0 1 0 0 ZNF692 55657 broad.mit.edu 37 1 249150050 249150050 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:249150050G>A ENST00000451251.1 - 7 1115 c.770C>T c.(769-771)cCt>cTt p.P257L ZNF692_ENST00000306601.4_Missense_Mutation_p.P252L|ZNF692_ENST00000366471.3_Missense_Mutation_p.P207L|ZNF692_ENST00000427146.1_Missense_Mutation_p.P207L|ZNF692_ENST00000366469.5_Missense_Mutation_p.P251L|ZNF692_ENST00000468455.1_5'UTR NM_001136036.2 NP_001129508.1 Q9BU19 ZN692_HUMAN zinc finger protein 692 252 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|large_intestine(6)|lung(7)|stomach(1) 17 all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199) all_cancers(173;0.19) OV - Ovarian serous cystadenocarcinoma(106;0.00805) CACAGCAAGAGGACTGGAGAG 0.602000 5 89 0 0 1 0 0 FARP2 9855 broad.mit.edu 37 2 242380843 242380843 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:242380843C>T ENST00000264042.3 + 13 1453 c.1283C>T c.(1282-1284)tCc>tTc p.S428F FARP2_ENST00000545004.1_Missense_Mutation_p.S428F|FARP2_ENST00000373287.4_Missense_Mutation_p.S428F NM_014808.2 NP_055623.1 O94887 FARP2_HUMAN FERM, RhoGEF and pleckstrin domain protein 2 428 Poly-Ser. axon guidance|neuron remodeling|Rac protein signal transduction|regulation of Rho protein signal transduction cytoskeleton|cytosol|extrinsic to membrane cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 43 all_cancers(19;4.88e-34)|all_epithelial(40;4.81e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Lung NSC(271;0.0886)|Ovarian(221;0.0905)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238) Epithelial(32;1.81e-33)|all cancers(36;1.61e-30)|OV - Ovarian serous cystadenocarcinoma(60;6.83e-15)|Kidney(56;1.19e-08)|KIRC - Kidney renal clear cell carcinoma(57;8.98e-08)|BRCA - Breast invasive adenocarcinoma(100;1.49e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00125)|Colorectal(34;0.0199)|COAD - Colon adenocarcinoma(134;0.121) AGCAGCAGCTCCCTCACAGAT 0.617000 47 57 0 0 1 0 0 IARS2 55699 broad.mit.edu 37 1 220275907 220275907 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:220275907C>T ENST00000366922.1 + 6 935 c.604C>T c.(604-606)Cct>Tct p.P202S IARS2_ENST00000302637.5_Missense_Mutation_p.P274S Q9NSE4 SYIM_HUMAN isoleucyl-tRNA synthetase 2, mitochondrial 274 isoleucyl-tRNA aminoacylation mitochondrial matrix ATP binding|isoleucine-tRNA ligase activity NS(1)|breast(1)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(17)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 51 GBM - Glioblastoma multiforme(131;0.0554) L-Isoleucine(DB00167) TGTAAAATTTCCTCTCTTAAA 0.323000 59 69 0 0 1 0 0 DCAF12 25853 broad.mit.edu 37 9 34107461 34107461 + Missense_Mutation SNP T T A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:34107461T>A ENST00000361264.4 - 3 777 c.436A>T c.(436-438)Atc>Ttc p.I146F DCAF12_ENST00000463286.1_5'UTR NM_015397.3 NP_056212.1 Q5T6F0 DCA12_HUMAN DDB1 and CUL4 associated factor 12 146 centrosome|CUL4 RING ubiquitin ligase complex breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1) 11 TTCAGCTCGATGGCATGGATA 0.532000 37 67 0 0 1 0 0 ENPP7 339221 broad.mit.edu 37 17 77710978 77710978 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:77710978G>A ENST00000328313.5 + 4 1386 c.1165G>A c.(1165-1167)Gag>Aag p.E389K NM_178543.3 NP_848638.2 Q6UWV6 ENPP7_HUMAN ectonucleotide pyrophosphatase/phosphodiesterase 7 389 negative regulation of cell proliferation|negative regulation of DNA replication|sphingomyelin metabolic process Golgi apparatus|integral to membrane|microvillus sphingomyelin phosphodiesterase activity breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(6)|skin(3) 34 OV - Ovarian serous cystadenocarcinoma(97;0.016)|BRCA - Breast invasive adenocarcinoma(99;0.0224) CCACGTGTACGAGCTCATGTG 0.632000 13 73 0 0 1 0 0 GLDC 2731 broad.mit.edu 37 9 6553455 6553455 + Silent SNP C C A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:6553455C>A ENST00000321612.6 - 20 2520 c.2370G>T c.(2368-2370)cgG>cgT p.R790R NM_000170.2 NP_000161.2 P23378 GCSP_HUMAN glycine dehydrogenase (decarboxylating) 790 glycine catabolic process mitochondrion electron carrier activity|glycine dehydrogenase (decarboxylating) activity|lyase activity|pyridoxal phosphate binding cervix(1)|endometrium(2)|large_intestine(5)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 37 Acute lymphoblastic leukemia(23;0.161) GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134) Glycine(DB00145)|Pyridoxal Phosphate(DB00114) CATCCTCATTCCGCTTTAGTG 0.483000 60 25 2.6711e-34 2.70347e-34 1 1 0 B4GALNT2 124872 broad.mit.edu 37 17 47241517 47241517 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:47241517C>T ENST00000300404.2 + 8 1073 c.1014C>T c.(1012-1014)atC>atT p.I338I B4GALNT2_ENST00000393354.2_Silent_p.I278I|B4GALNT2_ENST00000504681.1_Silent_p.I252I NM_153446.2 NP_703147.2 Q8NHY0 B4GN2_HUMAN beta-1,4-N-acetyl-galactosaminyl transferase 2 338 lipid glycosylation|negative regulation of cell-cell adhesion|UDP-N-acetylgalactosamine metabolic process integral to Golgi membrane acetylgalactosaminyltransferase activity endometrium(3)|large_intestine(6)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 24 all cancers(6;0.000316) AGCTCATGATCATGCTCCGGA 0.493000 102 135 0 0 1 0 0 SNHG14 104472715 broad.mit.edu 37 15 25333045 25333045 + RNA SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr15:25333045G>A ENST00000546682.1 + 0 586 SNHG14_ENST00000549804.2_RNA|SNHG14_ENST00000553108.1_RNA NR_003361.1 CCATGTATAGGAAATTTCTTG 0.478000 10 12 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9089247 9089247 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:9089247G>A ENST00000397910.4 - 1 2771 c.2568C>T c.(2566-2568)tcC>tcT p.S856S NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 856 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 ATAGATGAGTGGAAGGAGTAG 0.463000 29 61 0 0 1 0 0 NXF5 55998 broad.mit.edu 37 X 101096461 101096461 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chrX:101096461C>T ENST00000537026.1 - 6 669 c.310G>A c.(310-312)Gag>Aag p.E104K NXF5_ENST00000361708.2_Missense_Mutation_p.E104K|NXF5_ENST00000473265.2_Missense_Mutation_p.E104K NM_032946.2 NP_116564.2 Q9H1B4 NXF5_HUMAN nuclear RNA export factor 5 104 mRNA export from nucleus|multicellular organismal development actin cytoskeleton|cytoplasm|nucleus nucleocytoplasmic transporter activity|nucleotide binding|protein binding|RNA binding breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|skin(1) 30 TTTAGCATCTCCATTTGGCCT 0.488000 6 79 0 0 1 0 0 MFHAS1 9258 broad.mit.edu 37 8 8749126 8749126 + Missense_Mutation SNP A A C TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:8749126A>C ENST00000276282.6 - 1 2029 c.1443T>G c.(1441-1443)gaT>gaG p.D481E NM_004225.2 NP_004216.2 Q9Y4C4 MFHA1_HUMAN malignant fibrous histiocytoma amplified sequence 1 481 Roc. endometrium(1)|kidney(3)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|stomach(1) 21 Hepatocellular(245;0.217) COAD - Colon adenocarcinoma(149;0.124) CATAACTTTCATCCCCAGCTA 0.602000 48 63 0 0 1 0 0 RHAG 6005 broad.mit.edu 37 6 49578814 49578814 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:49578814G>A ENST00000371175.4 - 7 1016 c.990C>T c.(988-990)gtC>gtT p.V330V RHAG_ENST00000229810.7_Intron NM_000324.2 NP_000315.2 Q02094 RHAG_HUMAN Rh-associated glycoprotein 330 carbon dioxide transport|cellular ion homeostasis integral to plasma membrane ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 39 Lung NSC(77;0.0255) GGAGGTTATGGACCCCACATG 0.418000 29 124 0 0 1 0 0 GTF3C1 2975 broad.mit.edu 37 16 27495572 27495572 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr16:27495572G>A ENST00000356183.4 - 25 3976 c.3961C>T c.(3961-3963)Cgc>Tgc p.R1321C GTF3C1_ENST00000561623.1_Missense_Mutation_p.R1321C NM_001520.3 NP_001511.2 Q12789 TF3C1_HUMAN general transcription factor IIIC, polypeptide 1, alpha 220kDa 1321 transcription factor TFIIIC complex DNA binding|protein binding breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2) 80 ACTATGTAGCGAGCTCTTCGT 0.488000 7 107 0 0 1 0 0 TMC7 79905 broad.mit.edu 37 16 19058524 19058524 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr16:19058524C>T ENST00000421369.3 + 12 1921 c.1363C>T c.(1363-1365)Cct>Tct p.P455S TMC7_ENST00000569532.1_Missense_Mutation_p.P565S|TMC7_ENST00000304381.5_Missense_Mutation_p.P565S NM_001160364.1 NP_001153836.1 Q7Z402 TMC7_HUMAN transmembrane channel-like 7 565 integral to membrane breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1) 28 ACCCCTTCTCCCTGCAATTGC 0.512000 142 349 0 0 1 0 0 SLC20A1 6574 broad.mit.edu 37 2 113416570 113416570 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:113416570C>T ENST00000272542.3 + 7 1486 c.947C>T c.(946-948)aCa>aTa p.T316I SLC20A1_ENST00000480984.1_3'UTR NM_005415.4 NP_005406.3 Q8WUM9 S20A1_HUMAN solute carrier family 20 (phosphate transporter), member 1 316 phosphate metabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade integral to plasma membrane inorganic phosphate transmembrane transporter activity|receptor activity|sodium-dependent phosphate transmembrane transporter activity breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|skin(1)|urinary_tract(3) 28 GAGGAGAGAACAGTCTCATTC 0.493000 37 90 0 0 1 0 0 OC90 729330 broad.mit.edu 37 8 133036759 133036759 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:133036759G>A ENST00000262283.5 - 18 2138 c.2039C>T c.(2038-2040)cCc>cTc p.P680L OC90_ENST00000603859.1_Missense_Mutation_p.P468L|OC90_ENST00000254627.3_Missense_Mutation_p.P468L|OC90_ENST00000443356.2_Missense_Mutation_p.P484L Q02509 OC90_HUMAN otoconin 90 484 lipid catabolic process|phospholipid metabolic process calcium ion binding|phospholipase A2 activity NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(23)|ovary(2)|prostate(1)|skin(1) 37 Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000805) GATCCCCAAGGGACCCAGTGA 0.592000 14 33 0 0 1 0 0 ABCA9 10350 broad.mit.edu 37 17 67022560 67022560 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:67022560G>A ENST00000340001.4 - 16 2310 c.2099C>T c.(2098-2100)tCt>tTt p.S700F ABCA9_ENST00000453985.2_Missense_Mutation_p.S700F|ABCA9_ENST00000370732.2_Missense_Mutation_p.S700F NM_080283.3 NP_525022.2 Q8IUA7 ABCA9_HUMAN ATP-binding cassette, sub-family A (ABC1), member 9 700 ABC transporter 1. transport integral to membrane ATP binding|ATPase activity NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 91 Breast(10;1.47e-12) AAGGAACAGAGAAGAGCCTGC 0.418000 144 390 0 0 1 0 0 MYO5C 55930 broad.mit.edu 37 15 52515741 52515741 + Splice_Site SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr15:52515741C>T ENST00000261839.7 - 29 3788 c.3627_splice c.e29+1 p.M1209_splice NM_018728.3 NP_061198.2 Q9NQX4 MYO5C_HUMAN myosin VC 1209 myosin complex actin binding|ATP binding|calmodulin binding|motor activity breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 66 all cancers(107;0.0137) GAGACCATACCATGTTCTCTG 0.438000 25 61 0 0 1 0 0 TRAV19 28664 broad.mit.edu 37 14 22476271 22476271 + RNA SNP C C T rs140297772 by1000genomes TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr14:22476271C>T ENST00000390447.3 + 0 318 AATTGGTTTTCCTTATTCGTC 0.418000 14 25 0 0 1 0 0 SPATA2 9825 broad.mit.edu 37 20 48524734 48524734 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr20:48524734G>A ENST00000422556.1 - 2 643 c.294C>T c.(292-294)aaC>aaT p.N98N SPATA2_ENST00000289431.5_Silent_p.N98N|SPATA2_ENST00000543716.1_Intron NM_001135773.1 NP_001129245.1 Q9UM82 SPAT2_HUMAN spermatogenesis associated 2 98 cell differentiation|multicellular organismal development|spermatogenesis cytoplasm|nucleus central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1) 20 Hepatocellular(150;0.133) BRCA - Breast invasive adenocarcinoma(9;4.03e-06) AGAGGAAGAGGTTGATGCCCA 0.597000 92 166 0 0 1 0 0 SLC13A2 9058 broad.mit.edu 37 17 26821460 26821460 + Missense_Mutation SNP T T G TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:26821460T>G ENST00000444914.3 + 9 1805 c.1385T>G c.(1384-1386)gTg>gGg p.V462G SLC13A2_ENST00000545060.1_Missense_Mutation_p.V370G|SLC13A2_ENST00000314669.5_Missense_Mutation_p.V413G|SLC13A2_ENST00000537681.1_Missense_Mutation_p.V342G NM_001145975.1 NP_001139447.1 Q13183 S13A2_HUMAN solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 2 413 integral to plasma membrane|membrane fraction low affinity sodium:dicarboxylate symporter activity breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 all_lung(13;0.000871)|Lung NSC(42;0.0027) UCEC - Uterine corpus endometrioid carcinoma (53;0.154) Succinic acid(DB00139) TGGAAGACGGTGAACCAGAAG 0.577000 OREG0024276 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 56 97 0 0 1 0 0 ZCCHC4 29063 broad.mit.edu 37 4 25353256 25353256 + Missense_Mutation SNP T T A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:25353256T>A ENST00000302874.4 + 8 980 c.956T>A c.(955-957)tTt>tAt p.F319Y ZCCHC4_ENST00000505451.1_3'UTR NM_024936.2 NP_079212.2 Q9H5U6 ZCHC4_HUMAN zinc finger, CCHC domain containing 4 319 methyltransferase activity|nucleic acid binding|zinc ion binding endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|pancreas(1) 9 Breast(46;0.0503) TTCCCCTATTTTTTTGAATCC 0.353000 4 109 0 0 1 0 0 HKDC1 80201 broad.mit.edu 37 10 71010079 71010079 + Missense_Mutation SNP G G A rs138845753 TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:71010079G>A ENST00000354624.5 + 11 1737 c.1604G>A c.(1603-1605)gGa>gAa p.G535E HKDC1_ENST00000395086.2_Missense_Mutation_p.G535E NM_025130.3 NP_079406.3 Q2TB90 HKDC1_HUMAN hexokinase domain containing 1 535 glycolysis mitochondrion|nucleus ATP binding|hexokinase activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 34 GATCTTGGGGGAACCAACTTC 0.547000 13 305 0 0 1 0 0 KCND2 3751 broad.mit.edu 37 7 119915063 119915063 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:119915063C>T ENST00000331113.4 + 1 1342 c.377C>T c.(376-378)cCg>cTg p.P126L NM_012281.2 NP_036413.1 Q9NZV8 KCND2_HUMAN potassium voltage-gated channel, Shal-related subfamily, member 2 126 regulation of action potential|synaptic transmission cell surface|dendritic spine metal ion binding NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 75 all_neural(327;0.117) GGCCTCATCCCGGAAATCATC 0.582000 126 303 0 0 1 0 0 PCDHA9 9752 broad.mit.edu 37 5 140230148 140230148 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:140230148G>A ENST00000378122.3 + 1 2792 c.2068G>A c.(2068-2070)Gag>Aag p.E690K PCDHA9_ENST00000532602.1_Missense_Mutation_p.E690K|PCDHA8_ENST00000531613.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron NM_014005.3 NP_054724.1 breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 59 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CACGGGCCCCGAGGTGACGCT 0.657000 19 142 0 0 1 0 0 KCNT1 57582 broad.mit.edu 37 9 138676615 138676615 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:138676615C>T ENST00000298480.5 + 27 3110 c.3036C>T c.(3034-3036)atC>atT p.I1012I KCNT1_ENST00000371757.2_Silent_p.I1012I|KCNT1_ENST00000263604.3_Silent_p.I993I|KCNT1_ENST00000486577.2_Silent_p.I971I|KCNT1_ENST00000488444.2_Silent_p.I993I|KCNT1_ENST00000487664.1_Silent_p.I967I|KCNT1_ENST00000490355.2_Silent_p.I991I|KCNT1_ENST00000491806.2_Silent_p.I979I B7ZVY4 B7ZVY4_HUMAN potassium channel, subfamily T, member 1 1012 membrane binding|calcium-activated potassium channel activity breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 50 Myeloproliferative disorder(178;0.0821) OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05) AGATGAAAATCACCGAGGGCG 0.647000 45 124 0 0 1 0 0 DCAF12L2 340578 broad.mit.edu 37 X 125298567 125298567 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chrX:125298567C>T ENST00000538699.1 - 2 1421 c.1341G>A c.(1339-1341)ggG>ggA p.G447G DCAF12L2_ENST00000360028.2_Silent_p.G447G NM_001013628.2 NP_001013650.1 Q5VW00 DC122_HUMAN DDB1 and CUL4 associated factor 12-like 2 447 NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3) 64 GGAGAGGCCCCCCAGCCACAA 0.557000 67 32 0 0 1 0 0 GABRA5 2558 broad.mit.edu 37 15 27188527 27188527 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr15:27188527G>A ENST00000335625.5 + 10 1931 c.1043G>A c.(1042-1044)gGc>gAc p.G348D GABRA5_ENST00000400081.3_Missense_Mutation_p.G348D|GABRA5_ENST00000355395.5_Missense_Mutation_p.G348D NM_000810.3 NP_000801.1 P31644 GBRA5_HUMAN gamma-aminobutyric acid (GABA) A receptor, alpha 5 348 gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity p.G348D(1) NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(1)|upper_aerodigestive_tract(1) 49 all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227) all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182) Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) ACCAAGAGAGGCTGGGCCTGG 0.527000 4 10 0 0 1 0 0 C7orf10 79783 broad.mit.edu 37 7 40488926 40488926 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:40488926G>A ENST00000309930.5 + 10 902 c.878G>A c.(877-879)gGa>gAa p.G293E C7orf10_ENST00000401647.2_Missense_Mutation_p.G245E|C7orf10_ENST00000335693.4_Missense_Mutation_p.G293E NM_001193311.1|NM_024728.2 NP_001180240.1|NP_079004.1 Q9HAC7 CG010_HUMAN chromosome 7 open reading frame 10 293 transferase activity endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(2) 18 GTTGGAGCAGGAAATAACCAG 0.363000 9 16 0 0 1 0 0 MYBPC2 4606 broad.mit.edu 37 19 50944196 50944196 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:50944196C>T ENST00000357701.5 + 8 683 c.632C>T c.(631-633)cCc>cTc p.P211L NM_004533.3 NP_004524.3 Q14324 MYPC2_HUMAN myosin binding protein C, fast type 211 cell adhesion|muscle filament sliding cytosol|myosin filament actin binding|structural constituent of muscle breast(1) 1 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144) CTAGGCATCCCCCCGGAGATT 0.582000 16 32 0 0 1 0 0 C16orf78 123970 broad.mit.edu 37 16 49407869 49407869 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr16:49407869G>A ENST00000299191.3 + 1 136 c.19G>A c.(19-21)Gac>Aac p.D7N NM_144602.2 NP_653203.1 Q8WTQ4 CP078_HUMAN chromosome 16 open reading frame 78 7 breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|upper_aerodigestive_tract(1) 22 GCAACAAATGGACCTGAAGGA 0.522000 42 44 0 0 1 0 0 SLC4A9 83697 broad.mit.edu 37 5 139747388 139747388 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:139747388C>T ENST00000230993.6 + 16 2366 c.2331C>T c.(2329-2331)gtC>gtT p.V777V SLC4A9_ENST00000507527.1_Silent_p.V777V|SLC4A9_ENST00000506757.2_Silent_p.V753V|SLC4A9_ENST00000506545.1_Silent_p.V690V|SLC4A9_ENST00000432095.2_Silent_p.V739V NM_001258428.1 NP_001245357.1 Q96Q91 B3A4_HUMAN solute carrier family 4, sodium bicarbonate cotransporter, member 9 777 Membrane (anion exchange). integral to membrane|plasma membrane inorganic anion exchanger activity|sodium:bicarbonate symporter activity endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|prostate(1) 14 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTTGGTATGTCTCAGCCACTG 0.597000 4 40 0 0 1 0 0 KHDRBS2 202559 broad.mit.edu 37 6 62611186 62611186 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:62611186C>T ENST00000281156.4 - 5 852 c.574G>A c.(574-576)Ggc>Agc p.G192S NM_152688.2 NP_689901.2 Q5VWX1 KHDR2_HUMAN KH domain containing, RNA binding, signal transduction associated 2 192 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus SH3 domain binding NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|liver(1)|lung(13)|ovary(3)|prostate(3)|skin(12)|upper_aerodigestive_tract(2)|urinary_tract(1) 49 BRCA - Breast invasive adenocarcinoma(397;0.149) ATCCCTCTGCCTCTAATACCT 0.408000 77 54 0 0 1 0 0 TLR5 7100 broad.mit.edu 37 1 223284451 223284451 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:223284451G>A ENST00000540964.1 - 4 2384 c.1923C>T c.(1921-1923)tcC>tcT p.S641S TLR5_ENST00000342210.6_Silent_p.S641S O60602 TLR5_HUMAN toll-like receptor 5 641 Missing (in 10% of the population; abolishes flagellin signaling; associated with resistance to SLEB1). cellular response to mechanical stimulus|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of toll-like receptor signaling pathway integral to membrane|plasma membrane interleukin-1 receptor binding|transmembrane receptor activity breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 32 GBM - Glioblastoma multiforme(131;0.0851) CAATGAAAAGGGAGAACTTTA 0.453000 13 124 0 0 1 0 0 POLR2A 5430 broad.mit.edu 37 17 7412420 7412420 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:7412420C>T ENST00000322644.6 + 21 4022 c.3623C>T c.(3622-3624)tCc>tTc p.S1208F NM_000937.4 NP_000928.1 P24928 RPB1_HUMAN polymerase (RNA) II (DNA directed) polypeptide A, 220kDa 1208 mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction DNA-directed RNA polymerase II, core complex DNA binding|DNA-directed RNA polymerase activity|metal ion binding|RNA-directed RNA polymerase activity|ubiquitin protein ligase binding breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 50 Prostate(122;0.173) GCCCGAATCTCCCCCTGGCTG 0.537000 22 37 0 0 1 0 0 AQR 9716 broad.mit.edu 37 15 35168150 35168150 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr15:35168150G>A ENST00000156471.5 - 28 3448 c.3223C>T c.(3223-3225)Cct>Tct p.P1075S NM_014691.2 NP_055506.1 O60306 AQR_HUMAN aquarius intron-binding spliceosomal factor 1075 catalytic step 2 spliceosome RNA binding breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(10)|lung(18)|ovary(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2) 57 Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08) all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283) AGAAGAAGAGGGATAAAAGTT 0.373000 32 77 0 0 1 0 0 SLC7A9 11136 broad.mit.edu 37 19 33333123 33333123 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:33333123C>T ENST00000023064.4 - 11 1366 c.1175G>A c.(1174-1176)gGa>gAa p.G392E SLC7A9_ENST00000590341.1_Missense_Mutation_p.G392E|SLC7A9_ENST00000587772.1_Missense_Mutation_p.G392E NM_001126335.1|NM_001243036.1|NM_014270.4 NP_001119807.1|NP_001229965.1|NP_055085.1 P82251 BAT1_HUMAN solute carrier family 7 (amino acid transporter light chain, bo,+ system), member 9 392 blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly integral to plasma membrane L-cystine transmembrane transporter activity|neutral amino acid transmembrane transporter activity|peptide antigen binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 32 Esophageal squamous(110;0.137) L-Cystine(DB00138) CACGATGAGTCCTAGAATCGT 0.423000 26 74 0 0 1 0 0 FAM109A 144717 broad.mit.edu 37 12 111800797 111800797 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:111800797G>A ENST00000450786.2 - 2 538 c.377C>T c.(376-378)cCc>cTc p.P126L FAM109A_ENST00000392658.5_Silent_p.S145S|FAM109A_ENST00000547838.2_Silent_p.S145S|FAM109A_ENST00000548163.1_Silent_p.S145S|FAM109A_ENST00000361483.3_Silent_p.S158S Q8N4B1 SESQ1_HUMAN family with sequence similarity 109, member A 166 endosome organization|receptor recycling|retrograde transport, endosome to Golgi clathrin-coated vesicle|early endosome|recycling endosome|trans-Golgi network protein homodimerization activity breast(1)|endometrium(1)|lung(1)|ovary(1) 4 gcaagggcagggactggggct 0.756000 3 14 0 0 1 0 0 MYO1H 283446 broad.mit.edu 37 12 109844640 109844640 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:109844640G>A ENST00000310903.5 + 9 1068 c.962G>A c.(961-963)aGa>aAa p.R321K MYO1H_ENST00000542883.1_3'UTR|MYO1H_ENST00000431443.2_Missense_Mutation_p.R321K B4DNW6 B4DNW6_HUMAN myosin IH 68 myosin complex motor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(17)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 47 CTCACCCACAGAAAAATTGAA 0.498000 7 92 0 0 1 0 0 TEKT5 146279 broad.mit.edu 37 16 10788182 10788182 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr16:10788182C>T ENST00000283025.2 - 1 620 c.549G>A c.(547-549)gtG>gtA p.V183V NM_144674.1 NP_653275.1 Q96M29 TEKT5_HUMAN tektin 5 183 microtubule cytoskeleton organization cilium axoneme|flagellar axoneme|microtubule breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4) 34 ATGGGCAGTTCACCTCATTGG 0.572000 140 300 0 0 1 0 0 CNTN4 152330 broad.mit.edu 37 3 3076416 3076416 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:3076416C>T ENST00000397461.1 + 16 2268 c.1884C>T c.(1882-1884)acC>acT p.T628T CNTN4_ENST00000418658.1_Silent_p.T628T|CNTN4_ENST00000358480.3_Silent_p.T409T|CNTN4_ENST00000448906.2_Silent_p.T300T|CNTN4_ENST00000427331.1_Silent_p.T628T|CNTN4_ENST00000397459.2_Silent_p.T300T NM_001206955.1 NP_001193884.1 Q8IWV2 CNTN4_HUMAN contactin 4 628 Fibronectin type-III 1. axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity anchored to membrane|axon|extracellular region|plasma membrane protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 61 Ovarian(110;0.156) Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01) GCCCCATCACCATGTATGTCA 0.547000 13 113 0 0 1 0 0 ANKRD33 341405 broad.mit.edu 37 12 52284571 52284571 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:52284571C>T ENST00000301190.6 + 5 1068 c.841C>T c.(841-843)Cct>Tct p.P281S ANKRD33_ENST00000538991.1_Missense_Mutation_p.P87S|ANKRD33_ENST00000547119.1_3'UTR|ANKRD33_ENST00000340970.4_Missense_Mutation_p.P156S NM_001130015.1|NM_182608.3 NP_001123487.1|NP_872414.3 Q7Z3H0 ANR33_HUMAN ankyrin repeat domain 33 156 endometrium(2)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|skin(1)|urinary_tract(1) 22 BRCA - Breast invasive adenocarcinoma(357;0.0969) ccaggTTGCCCCTTCACTCCT 0.667000 12 32 0 0 1 0 0 IGSF5 150084 broad.mit.edu 37 21 41142948 41142948 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr21:41142948C>T ENST00000380588.4 + 4 627 c.524C>T c.(523-525)tCc>tTc p.S175F IGSF5_ENST00000479378.1_3'UTR NM_001080444.1 NP_001073913.1 Q9NSI5 IGSF5_HUMAN immunoglobulin superfamily, member 5 175 Ig-like V-type 2. integral to membrane|tight junction breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(7)|skin(2)|stomach(1) 23 Prostate(19;5.35e-06) CCGGATATTTCCTGGGAGCTC 0.522000 40 68 0 0 1 0 0 EFCAB5 374786 broad.mit.edu 37 17 28419874 28419874 + Missense_Mutation SNP T T C TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:28419874T>C ENST00000394835.3 + 22 4433 c.4241T>C c.(4240-4242)tTa>tCa p.L1414S EFCAB5_ENST00000320856.5_Missense_Mutation_p.L1290S|RP11-1148O4.2_ENST00000582938.1_RNA|EFCAB5_ENST00000394832.2_Intron NM_198529.3 NP_940931.2 A4FU69 EFCB5_HUMAN EF-hand calcium binding domain 5 1414 calcium ion binding breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 43 AACAAATATTTAGTCAACAAT 0.343000 30 60 0 0 1 0 0 B3GNTL1 146712 broad.mit.edu 37 17 80919005 80919005 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:80919005C>T ENST00000576599.1 - 8 1070 c.320G>A c.(319-321)gGc>gAc p.G107D B3GNTL1_ENST00000571954.1_5'UTR|B3GNTL1_ENST00000320865.3_Missense_Mutation_p.G218D Q67FW5 B3GNL_HUMAN UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase-like 1 218 transferase activity, transferring glycosyl groups endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1) 8 Breast(20;0.000443)|all_neural(118;0.0779) all_cancers(8;0.0396)|all_epithelial(8;0.0556) BRCA - Breast invasive adenocarcinoma(99;0.0517)|OV - Ovarian serous cystadenocarcinoma(97;0.0868) GCGGATGACGCCGCCGCCCTT 0.692000 8 22 0 0 1 0 0 SLIT3 6586 broad.mit.edu 37 5 168151482 168151482 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:168151482C>T ENST00000519560.1 - 21 2697 c.2278G>A c.(2278-2280)Gaa>Aaa p.E760K SLIT3_ENST00000332966.8_Missense_Mutation_p.E760K|SLIT3_ENST00000404867.3_Missense_Mutation_p.E760K NM_001271946.1|NM_003062.2 NP_001258875.1|NP_003053.1 O75094 SLIT3_HUMAN slit homolog 3 (Drosophila) 760 apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway extracellular space|mitochondrion calcium ion binding|Roundabout binding endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) TGGTTTCCTTCCAGGTACCTG 0.512000 10 38 0 0 1 0 0 ATP13A5 344905 broad.mit.edu 37 3 193029711 193029711 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:193029711C>T ENST00000342358.4 - 20 2456 c.2339G>A c.(2338-2340)gGa>gAa p.G780E ATP13A5-AS1_ENST00000414634.1_RNA|ATP13A5_ENST00000495496.1_5'UTR NM_198505.2 NP_940907.2 Q4VNC0 AT135_HUMAN ATPase type 13A5 780 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 76 all_cancers(143;1.08e-08)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06) GBM - Glioblastoma multiforme(46;0.000307) TGAACTGTTTCCAGTATGCAT 0.408000 36 75 0 0 1 0 0 SERPING1 710 broad.mit.edu 37 11 57367836 57367836 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:57367836C>T ENST00000403558.1 + 2 1004 c.638C>T c.(637-639)aCc>aTc p.T213I SERPING1_ENST00000378323.4_Missense_Mutation_p.T184I|SERPING1_ENST00000378324.2_Missense_Mutation_p.T127I|SERPING1_ENST00000278407.4_Missense_Mutation_p.T179I|SERPING1_ENST00000340687.6_Missense_Mutation_p.T179I NM_001032295.1 NP_001027466.1 P05155 IC1_HUMAN serpin peptidase inhibitor, clade G (C1 inhibitor), member 1 179 blood circulation|blood coagulation, intrinsic pathway|complement activation, classical pathway|innate immune response|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation extracellular space|platelet alpha granule lumen protein binding|serine-type endopeptidase inhibitor activity central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|pancreas(2)|prostate(1)|urinary_tract(1) 27 AGCCTCCTTACCCAGGTCCTG 0.507000 5 104 0 0 1 0 0 RAI2 10742 broad.mit.edu 37 X 17819692 17819692 + Missense_Mutation SNP A A T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chrX:17819692A>T ENST00000545871.1 - 3 899 c.439T>A c.(439-441)Tcc>Acc p.S147T RAI2_ENST00000331511.1_Missense_Mutation_p.S147T|RAI2_ENST00000415486.3_Missense_Mutation_p.S97T|RAI2_ENST00000360011.1_Missense_Mutation_p.S147T|RAI2_ENST00000451717.1_Missense_Mutation_p.S147T NM_001172739.1|NM_001172743.1 NP_001166210.1|NP_001166214.1 Q9Y5P3 RAI2_HUMAN retinoic acid induced 2 147 embryo development breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1) 22 Hepatocellular(33;0.183) GTACTGGAGGAGCATGGGGCC 0.672000 37 78 0 0 1 0 0 MYOM3 127294 broad.mit.edu 37 1 24413198 24413198 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:24413198C>T ENST00000330966.7 - 15 1899 c.1737G>A c.(1735-1737)atG>atA p.M579I MYOM3_ENST00000374434.3_Missense_Mutation_p.M578I|MYOM3_ENST00000329601.7_Missense_Mutation_p.M578I|MYOM3_ENST00000475306.1_5'UTR|RP11-293P20.2_ENST00000439239.2_RNA Q5VTT5 MYOM3_HUMAN myomesin 3 578 Fibronectin type-III 2. NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2) 68 Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153) CATACTGGTTCATTGCTCGCA 0.627000 43 75 0 0 1 0 0 FMN2 56776 broad.mit.edu 37 1 240255776 240255776 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:240255776C>T ENST00000319653.9 + 1 597 c.367C>T c.(367-369)Ctc>Ttc p.L123F NM_020066.4 NP_064450.3 Q9NZ56 FMN2_HUMAN formin 2 123 actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions actin binding NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2) 178 Ovarian(103;0.127) all_cancers(173;0.013) OV - Ovarian serous cystadenocarcinoma(106;0.0106) AGACCTCAGCCTCTCGGCGGA 0.692000 14 15 0 0 1 0 0 SERINC3 10955 broad.mit.edu 37 20 43150590 43150590 + Translation_Start_Site SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr20:43150590C>T ENST00000342374.4 - 1 160 c.3G>A c.(1-3)atG>atA p.M1I SERINC3_ENST00000541235.1_5'UTR|SERINC3_ENST00000468234.1_5'UTR|SERINC3_ENST00000255175.1_Start_Codon_SNP_p.M1I NM_006811.2 NP_006802.1 Q13530 SERC3_HUMAN serine incorporator 3 1 integral to membrane|plasma membrane protein binding endometrium(4)|large_intestine(2)|lung(8)|skin(3)|urinary_tract(1) 18 Myeloproliferative disorder(115;0.0122) Colorectal(3;0.000291)|COAD - Colon adenocarcinoma(18;0.00189) GCACAGCCCCCATGGTGACGC 0.627000 6 11 0 0 1 0 0 BAG5 9529 broad.mit.edu 37 14 104026905 104026905 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr14:104026905G>A ENST00000445922.2 - 2 843 c.597C>T c.(595-597)gtC>gtT p.V199V RP11-894P9.2_ENST00000556332.1_RNA|BAG5_ENST00000299204.4_Silent_p.V199V|BAG5_ENST00000337322.4_Silent_p.V240V NM_004873.3 NP_004864.1 Q9UL15 BAG5_HUMAN BCL2-associated athanogene 5 199 BAG 3. apoptosis|negative regulation of protein refolding|negative regulation of ubiquitin-protein ligase activity|neuron death|protein folding|regulation of inclusion body assembly inclusion body|perinuclear region of cytoplasm chaperone binding|ubiquitin protein ligase binding endometrium(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2) 24 Melanoma(154;0.155) Epithelial(46;0.144) GTGCAATCAGGACCCCTCGGG 0.532000 65 100 0 0 1 0 0 LILRB2 10288 broad.mit.edu 37 19 54782124 54782124 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:54782124G>A ENST00000391748.1 - 7 1375 c.1248C>T c.(1246-1248)ctC>ctT p.L416L LILRB2_ENST00000314446.5_Silent_p.L416L|LILRB2_ENST00000391749.4_Silent_p.L416L|LILRB2_ENST00000434421.1_Silent_p.L300L|LILRB2_ENST00000391746.1_Silent_p.L416L NM_001278403.1 NP_001265332.1 Q8N423 LIRB2_HUMAN leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2 416 Ig-like C2-type 4. cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response integral to plasma membrane|membrane fraction receptor activity breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 44 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) CTGAGACCACGAGCTCCAGGG 0.652000 35 102 0 0 1 0 0 NDC80 10403 broad.mit.edu 37 18 2595510 2595510 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr18:2595510C>T ENST00000261597.4 + 11 1293 c.1111C>T c.(1111-1113)Cat>Tat p.H371Y NM_006101.2 NP_006092.1 O14777 NDC80_HUMAN NDC80 kinetochore complex component 371 Interaction with NEK2 and ZWINT.|Interaction with PSMC2 and SMC1A.|Interaction with SMC1A.|Interaction with the N-terminus of CDCA1. attachment of spindle microtubules to kinetochore|cell division|establishment of mitotic spindle orientation|mitotic prometaphase|mitotic sister chromatid segregation|mitotic spindle organization|phosphatidylinositol-mediated signaling condensed nuclear chromosome outer kinetochore|cytosol|Ndc80 complex protein binding NS(1)|biliary_tract(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)|urinary_tract(2) 22 GCGAATAAATCATGAAAGAAA 0.373000 50 64 0 0 1 0 0 OR6X1 390260 broad.mit.edu 37 11 123625061 123625061 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:123625061G>A ENST00000327930.2 - 1 192 c.166C>T c.(166-168)Cca>Tca p.P56S NM_001005188.1 NP_001005188.1 Q8NH79 OR6X1_HUMAN olfactory receptor, family 6, subfamily X, member 1 56 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.P56A(1) breast(3)|endometrium(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2) 23 Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279) AAGTACATTGGAATTTGTAGC 0.433000 42 38 0 0 1 0 0 SALL4 57167 broad.mit.edu 37 20 50408389 50408389 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr20:50408389G>A ENST00000217086.4 - 2 744 c.633C>T c.(631-633)atC>atT p.I211I SALL4_ENST00000371539.3_Intron|SALL4_ENST00000395997.3_Silent_p.I211I NM_020436.3 NP_065169.1 Q9UJQ4 SALL4_HUMAN spalt-like transcription factor 4 211 transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 GGACCCACGGGATGCTGTTGG 0.622000 17 179 0 0 1 0 0 KIF6 221458 broad.mit.edu 37 6 39563937 39563937 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:39563937G>A ENST00000287152.7 - 7 833 c.739C>T c.(739-741)Cat>Tat p.H247Y KIF6_ENST00000373215.3_Missense_Mutation_p.H247Y|KIF6_ENST00000373216.3_Missense_Mutation_p.H247Y|KIF6_ENST00000373213.4_Missense_Mutation_p.H86Y|KIF6_ENST00000538893.1_Missense_Mutation_p.H247Y NM_145027.4 NP_659464.3 Q6ZMV9 KIF6_HUMAN kinesin family member 6 247 Kinesin-motor. microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity|protein binding breast(2)|central_nervous_system(1)|endometrium(1)|kidney(16)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 52 TCAACCAGATGGAGTTTGGCA 0.473000 31 95 0 0 1 0 0 COL4A3BP 10087 broad.mit.edu 37 5 74681816 74681816 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:74681816G>A ENST00000380494.5 - 14 2005 c.1712C>T c.(1711-1713)cCt>cTt p.P571L COL4A3BP_ENST00000261415.7_Missense_Mutation_p.P417L|COL4A3BP_ENST00000405807.4_Missense_Mutation_p.P443L NM_001130105.1 NP_001123577.1 Q9Y5P4 C43BP_HUMAN collagen, type IV, alpha 3 (Goodpasture antigen) binding protein 443 START. ER to Golgi ceramide transport|immune response cytosol|endoplasmic reticulum membrane|Golgi apparatus ceramide binding|phosphatidylinositol-4-phosphate binding|protein binding|protein kinase activity breast(1)|kidney(1)|large_intestine(5)|lung(4)|skin(3)|stomach(1)|urinary_tract(1) 16 all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174) OV - Ovarian serous cystadenocarcinoma(47;1e-53) AGCTTTTAAAGGATCCAGAAC 0.373000 22 33 0 0 1 0 0 APOBR 55911 broad.mit.edu 37 16 28507221 28507221 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr16:28507221C>T ENST00000564831.1 + 2 892 c.859C>T c.(859-861)Cca>Tca p.P287S APOBR_ENST00000431282.1_Missense_Mutation_p.P287S|APOBR_ENST00000328423.5_Missense_Mutation_p.P287S NM_018690.3 NP_061160.3 Q0VD83 APOBR_HUMAN apolipoprotein B receptor 287 Glu-rich. cholesterol metabolic process|lipid transport chylomicron|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|skin(2)|stomach(1) 29 CAGGACAACCCCAGGTAGGGA 0.632000 10 23 0 0 1 0 0 TAS2R41 259287 broad.mit.edu 37 7 143175582 143175582 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:143175582C>T ENST00000408916.1 + 1 617 c.617C>T c.(616-618)tCt>tTt p.S206F EPHA1-AS1_ENST00000429289.1_RNA NM_176883.2 NP_795364.2 P59536 T2R41_HUMAN taste receptor, type 2, member 41 206 sensory perception of taste integral to membrane G-protein coupled receptor activity endometrium(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(2)|skin(1) 18 Melanoma(164;0.15) TTAATTAATTCTCTGAGGAGG 0.463000 24 123 0 0 1 0 0 OR4K13 390433 broad.mit.edu 37 14 20502813 20502813 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr14:20502813G>A ENST00000315693.2 - 1 106 c.105C>T c.(103-105)ttC>ttT p.F35F NM_001004714.1 NP_001004714.1 Q8NH42 OR4KD_HUMAN olfactory receptor, family 4, subfamily K, member 13 35 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4) 24 all_cancers(95;0.00108) Epithelial(56;4.65e-07)|all cancers(55;2.9e-06) GBM - Glioblastoma multiforme(265;0.0064) CAATCCCCACGAAGACCACAG 0.413000 32 38 0 0 1 0 0 SSPO 23145 broad.mit.edu 37 7 149503039 149503039 + RNA SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:149503039G>A ENST00000378016.2 + 0 8543 A2VEC9 SSPO_HUMAN SCO-spondin cell adhesion extracellular space peptidase inhibitor activity Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) CCCTGTGATGGAGGCATCCAG 0.647000 22 36 0 0 1 0 0 GPR98 84059 broad.mit.edu 37 5 89940622 89940622 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:89940622G>A ENST00000405460.2 + 15 2930 c.2834G>A c.(2833-2835)gGg>gAg p.G945E NM_032119.3 NP_115495.3 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 945 Calx-beta 7. cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6) 269 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) CCTGTACAAGGGACTGTTGTC 0.373000 7 129 0 0 1 0 0 PACRG 135138 broad.mit.edu 37 6 163483254 163483254 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:163483254C>T ENST00000337019.3 + 4 588 c.364C>T c.(364-366)Ccc>Tcc p.P122S PACRG_ENST00000366888.2_Missense_Mutation_p.P122S|PACRG_ENST00000366889.2_Missense_Mutation_p.P122S NM_152410.2 NP_689623.2 Q96M98 PACRG_HUMAN PARK2 co-regulated 122 endometrium(2)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 Breast(66;2.41e-05)|Ovarian(120;0.0245)|Prostate(117;0.0273)|all_neural(5;0.0416)|Glioma(2;0.203) OV - Ovarian serous cystadenocarcinoma(33;4.31e-19)|GBM - Glioblastoma multiforme(2;7.42e-11)|BRCA - Breast invasive adenocarcinoma(81;3.19e-05)|KIRC - Kidney renal clear cell carcinoma(3;0.205)|Kidney(3;0.242) AATGACATTTCCCTATGAGTT 0.428000 70 44 0 0 1 0 0 MARCH10 162333 broad.mit.edu 37 17 60814568 60814568 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:60814568C>T ENST00000544856.2 - 7 1036 c.658G>A c.(658-660)Gga>Aga p.G220R MARCH10_ENST00000311269.5_Missense_Mutation_p.G221R|RP11-156L14.1_ENST00000577270.1_RNA|RP11-156L14.1_ENST00000582564.1_RNA|MARCH10_ENST00000456609.2_Missense_Mutation_p.G221R|MARCH10_ENST00000583600.1_Missense_Mutation_p.G259R Q8NA82 MARHA_HUMAN membrane-associated ring finger (C3HC4) 10, E3 ubiquitin protein ligase 221 ligase activity|zinc ion binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|liver(1)|lung(15) 38 CTCGGGTCTCCTTTTTTGGCT 0.512000 10 440 0 0 1 0 0 VPS13B 157680 broad.mit.edu 37 8 100050693 100050693 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:100050693G>A ENST00000395996.1 + 3 301 c.190G>A c.(190-192)Gaa>Aaa p.E64K VPS13B_ENST00000441350.2_Missense_Mutation_p.E64K|VPS13B_ENST00000358544.2_Missense_Mutation_p.E64K|VPS13B_ENST00000355155.1_Missense_Mutation_p.E64K|VPS13B_ENST00000357162.2_Missense_Mutation_p.E64K Q7Z7G8 VP13B_HUMAN vacuolar protein sorting 13 homolog B (yeast) 64 protein transport NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9) 193 Breast(36;3.73e-07) OV - Ovarian serous cystadenocarcinoma(57;0.00636) ACATATTCATGAATTGAGGAT 0.294000 24 31 0 0 1 0 0 HMGCS2 3158 broad.mit.edu 37 1 120307177 120307177 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:120307177C>T ENST00000369406.3 - 2 226 c.177G>A c.(175-177)ctG>ctA p.L59L HMGCS2_ENST00000476640.1_5'UTR|HMGCS2_ENST00000544913.2_Silent_p.L59L NM_005518.3 NP_005509.1 P54868 HMCS2_HUMAN 3-hydroxy-3-methylglutaryl-CoA synthase 2 (mitochondrial) 59 acetoacetic acid biosynthetic process|cholesterol biosynthetic process|isoprenoid biosynthetic process|ketone body biosynthetic process mitochondrial matrix hydroxymethylglutaryl-CoA synthase activity NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 28 all_cancers(5;6.38e-10)|all_epithelial(5;1.1e-10)|Melanoma(3;1.93e-05)|Breast(55;0.218)|all_neural(166;0.219) all_lung(203;1.29e-06)|Lung NSC(69;9.35e-06)|all_epithelial(167;0.00124) Lung(183;0.0112)|LUSC - Lung squamous cell carcinoma(189;0.0595) AGTAGACCTCCAGGGCCAGGA 0.522000 33 57 0 0 1 0 0 IGSF5 150084 broad.mit.edu 37 21 41143056 41143056 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr21:41143056G>A ENST00000380588.4 + 4 735 c.632G>A c.(631-633)gGg>gAg p.G211E IGSF5_ENST00000479378.1_3'UTR NM_001080444.1 NP_001073913.1 Q9NSI5 IGSF5_HUMAN immunoglobulin superfamily, member 5 211 Ig-like V-type 2. integral to membrane|tight junction breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(7)|skin(2)|stomach(1) 23 Prostate(19;5.35e-06) CAGAGCAATGGGACTTTGACT 0.527000 35 60 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179395249 179395249 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:179395249C>T ENST00000589042.1 - 358 106317 c.106093G>A c.(106093-106095)Ggt>Agt p.G35365S TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G26425S|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.G33724S|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G32797S|TTN-AS1_ENST00000585487.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.G26300S|TTN_ENST00000342175.6_Missense_Mutation_p.G26492S|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000585625.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000604571.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000587568.1_RNA|TTN-AS1_ENST00000587944.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000419746.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 33724 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GACGTTCCACCTTCACCAGAA 0.358000 37 86 0 0 1 0 0 EPN1 29924 broad.mit.edu 37 19 56203375 56203375 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:56203375C>T ENST00000411543.2 + 7 1823 c.1276C>T c.(1276-1278)Cct>Tct p.P426S EPN1_ENST00000270460.6_Missense_Mutation_p.P340S|EPN1_ENST00000085079.7_Missense_Mutation_p.P315S NM_001130071.1 NP_001123543.1 Q9Y6I3 EPN1_HUMAN epsin 1 340 Ala/Gly/Pro-rich. endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway coated pit|cytoplasm|nucleus|plasma membrane lipid binding endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|skin(1) 17 Colorectal(82;0.00244)|Ovarian(87;0.133) GBM - Glioblastoma multiforme(193;0.112) GACCCCAGCCCCTGCAGCTGG 0.697000 5 13 0 0 1 0 0 PHLDB3 653583 broad.mit.edu 37 19 43991260 43991260 + Nonsense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:43991260G>A ENST00000292140.5 - 10 1525 c.1165C>T c.(1165-1167)Cag>Tag p.Q389* NM_198850.3 NP_942147.3 Q6NSJ2 PHLB3_HUMAN pleckstrin homology-like domain, family B, member 3 389 breast(1)|central_nervous_system(1)|lung(5) 7 Prostate(69;0.0153) CCAGTCCTCTGGAGGCCAATG 0.582000 3 11 0 0 1 0 0 NUP160 23279 broad.mit.edu 37 11 47804692 47804692 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:47804692G>A ENST00000378460.2 - 34 4095 c.4049C>T c.(4048-4050)gCt>gTt p.A1350V NUP160_ENST00000530326.1_Intron NM_015231.1 NP_056046.1 Q12769 NU160_HUMAN nucleoporin 160kDa 1350 carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|Nup107-160 complex nucleocytoplasmic transporter activity|protein binding NS(1)|biliary_tract(2)|breast(7)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(6)|prostate(2)|skin(2)|urinary_tract(2) 53 CAAATCCACAGCTTCTTCTAA 0.373000 7 209 0 0 1 0 0 CCDC88B 283234 broad.mit.edu 37 11 64112430 64112430 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:64112430C>T ENST00000356786.5 + 14 2461 c.2417C>T c.(2416-2418)tCt>tTt p.S806F CCDC88B_ENST00000463837.1_3'UTR|CCDC88B_ENST00000301897.4_5'UTR NM_032251.5 NP_115627.6 A6NC98 CC88B_HUMAN coiled-coil domain containing 88B 806 microtubule cytoskeleton organization cytoplasm microtubule binding endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 GAGCTGGAGTCTGCGTCCCAG 0.751000 7 7 0 0 1 0 0 PKHD1L1 93035 broad.mit.edu 37 8 110412552 110412552 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:110412552G>A ENST00000378402.5 + 13 1364 c.1260G>A c.(1258-1260)caG>caA p.Q420Q NM_177531.4 NP_803875.2 Q86WI1 PKHL1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 420 immune response cytosol|extracellular space|integral to membrane receptor activity NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4) 263 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) ATTTTAGCCAGACTGGACTTC 0.348000 HNSCC(38;0.096) 58 89 0 0 1 0 0 ACMSD 130013 broad.mit.edu 37 2 135602815 135602815 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:135602815G>A ENST00000356140.5 + 2 206 c.70G>A c.(70-72)Gga>Aga p.G24R AC016725.4_ENST00000392929.2_RNA|ACMSD_ENST00000392928.1_5'UTR|ACMSD_ENST00000283054.4_5'UTR NM_138326.2 NP_612199.2 Q8TDX5 ACMSD_HUMAN aminocarboxymuconate semialdehyde decarboxylase 24 quinolinate metabolic process|tryptophan catabolic process cytosol aminocarboxymuconate-semialdehyde decarboxylase activity|metal ion binding endometrium(3)|large_intestine(4)|lung(6)|skin(1) 14 BRCA - Breast invasive adenocarcinoma(221;0.115) GTTTGGCTACGGAGGCTGGGT 0.527000 43 102 0 0 1 0 0 OR6K3 391114 broad.mit.edu 37 1 158687447 158687447 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:158687447G>A ENST00000368146.1 - 1 506 c.507C>T c.(505-507)ttC>ttT p.F169F OR6K3_ENST00000368145.1_Silent_p.F153F Q8NGY3 OR6K3_HUMAN olfactory receptor, family 6, subfamily K, member 3 169 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1) 41 all_hematologic(112;0.0378) GCAGGATAAGGAAACCGAAGA 0.512000 5 153 0 0 1 0 0 CELF4 56853 broad.mit.edu 37 18 34850798 34850798 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr18:34850798G>A ENST00000420428.2 - 8 1427 c.1032C>T c.(1030-1032)ctC>ctT p.L344L CELF4_ENST00000334919.5_Silent_p.L334L|CELF4_ENST00000601019.1_Silent_p.L342L|CELF4_ENST00000588597.1_Silent_p.L333L|CELF4_ENST00000591282.1_Silent_p.L344L|CELF4_ENST00000603232.1_Silent_p.L343L|CELF4_ENST00000591287.1_Silent_p.L343L|CELF4_ENST00000412753.1_Silent_p.L343L|CELF4_ENST00000361795.5_Silent_p.L342L NM_020180.3 NP_064565.1 Q9BZC1 CELF4_HUMAN CUGBP, Elav-like family member 4 344 embryo development|germ cell development|regulation of alternative nuclear mRNA splicing, via spliceosome cytoplasm|nucleus BRE binding|nucleotide binding|translation repressor activity, nucleic acid binding breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1) 44 CCTGTGGGGGGAGGCCGGTGA 0.607000 27 54 0 0 1 0 0 INMT 11185 broad.mit.edu 37 7 30795327 30795327 + Nonsense_Mutation SNP A A T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:30795327A>T ENST00000013222.5 + 3 668 c.652A>T c.(652-654)Aaa>Taa p.K218* INMT_ENST00000409539.1_Nonsense_Mutation_p.K217*|INMT-FAM188B_ENST00000458257.1_Intron|INMT_ENST00000484180.1_3'UTR NM_001199219.1|NM_006774.4 NP_001186148.1|NP_006765.4 O95050 INMT_HUMAN indolethylamine N-methyltransferase 218 cytoplasm amine N-methyltransferase activity kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|stomach(1) 23 GGCCCTGGAGAAAGAGGAGGT 0.582000 10 136 0 0 1 0 0 SEMG2 6407 broad.mit.edu 37 20 43851923 43851923 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr20:43851923C>T ENST00000372769.3 + 2 1740 c.1650C>T c.(1648-1650)tcC>tcT p.S550S NM_003008.2 NP_002999.1 Q02383 SEMG2_HUMAN semenogelin II 550 Repeat-rich region. sexual reproduction extracellular space|stored secretory granule structural molecule activity autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 36 Myeloproliferative disorder(115;0.0122) AACAGGAATCCAGTGAGTCAC 0.378000 21 43 0 0 1 0 0 OR5H2 79310 broad.mit.edu 37 3 98001845 98001845 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:98001845G>A ENST00000355273.2 + 1 114 c.114G>A c.(112-114)gtG>gtA p.V38V RP11-325B23.2_ENST00000508616.1_lincRNA NM_001005482.1 NP_001005482.1 Q8NGV7 OR5H2_HUMAN olfactory receptor, family 5, subfamily H, member 2 38 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(1)|large_intestine(5)|lung(13)|ovary(3)|upper_aerodigestive_tract(1) 24 TGTTCTTGGTGATCTATCTCA 0.423000 117 266 0 0 1 0 0 GOLGA6A 342096 broad.mit.edu 37 15 74368300 74368300 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr15:74368300G>A ENST00000290438.3 - 8 631 c.591C>T c.(589-591)ctC>ctT p.L197L NM_001038640.2 NP_001033729.2 Q9NYA3 GOG6A_HUMAN golgin A6 family, member A 197 endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|liver(1)|lung(6)|prostate(1)|urinary_tract(1) 16 ACCACCGCTGGAGGACCGCTT 0.557000 34 164 0 0 1 0 0 ZNF711 7552 broad.mit.edu 37 X 84525120 84525120 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chrX:84525120G>A ENST00000360700.4 + 9 2100 c.1214G>A c.(1213-1215)aGg>aAg p.R405K ZNF711_ENST00000395402.1_Missense_Mutation_p.R367K|ZNF711_ENST00000373165.3_Missense_Mutation_p.R359K|ZNF711_ENST00000542798.1_Missense_Mutation_p.R201K|ZNF711_ENST00000276123.3_Missense_Mutation_p.R359K Q9Y462 ZN711_HUMAN zinc finger protein 711 359 positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding|sequence-specific DNA binding|zinc ion binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(3)|skin(4) 28 GCCAAAAAGAGGAGAAGGGGA 0.348000 23 20 0 0 1 0 0 BCR 613 broad.mit.edu 37 22 23613743 23613743 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr22:23613743G>A ENST00000305877.8 + 6 2636 c.1885G>A c.(1885-1887)Gat>Aat p.D629N BCR_ENST00000359540.3_Missense_Mutation_p.D629N NM_004327.3 NP_004318.3 P11274 BCR_HUMAN breakpoint cluster region 629 DH. regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol ATP binding|GTPase activator activity|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity BCR/JAK2(6) central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1) 35 AAGCAACAAAGATGCCAAGGA 0.532000 T """ABL1, FGFR1, JAK2 """ """CML, ALL, AML""" 23 75 0 0 1 0 0 MATR3 9782 broad.mit.edu 37 5 138643344 138643344 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:138643344C>T ENST00000394800.2 + 6 789 c.240C>T c.(238-240)tcC>tcT p.S80S MATR3_ENST00000361059.2_Silent_p.S80S|MATR3_ENST00000502929.1_Silent_p.S80S|MATR3_ENST00000394805.3_Silent_p.S80S|MATR3_ENST00000502499.1_Intron|MATR3_ENST00000504203.1_Intron|MATR3_ENST00000503811.1_Intron|MATR3_ENST00000510056.1_Silent_p.S80S|MATR3_ENST00000509990.1_Silent_p.S80S P43243 MATR3_HUMAN matrin 3 80 nuclear inner membrane|nuclear matrix nucleotide binding|protein binding|RNA binding|structural molecule activity|zinc ion binding breast(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 29 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325) GTACTTCTTCCCATAATTTGC 0.428000 5 149 0 0 1 0 0 CLCNKB 1188 broad.mit.edu 37 1 16371064 16371064 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:16371064C>T ENST00000375679.4 + 2 188 c.77C>T c.(76-78)cCc>cTc p.P26L NM_000085.4 NP_000076.2 chloride channel, voltage-sensitive Kb breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1) 21 Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649) GGCCCCTGTCCCCGCATCCGC 0.647000 6 12 0 0 1 0 0 RNFT2 84900 broad.mit.edu 37 12 117188072 117188072 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:117188072C>T ENST00000257575.4 + 4 743 c.510C>T c.(508-510)atC>atT p.I170I RNFT2_ENST00000407967.3_Silent_p.I170I|RNFT2_ENST00000319176.7_Silent_p.I170I|RNFT2_ENST00000392549.2_Silent_p.I170I Q96EX2 RNFT2_HUMAN ring finger protein, transmembrane 2 170 integral to membrane zinc ion binding endometrium(1)|large_intestine(3)|lung(1)|urinary_tract(1) 6 all_neural(191;0.117)|Medulloblastoma(191;0.163) BRCA - Breast invasive adenocarcinoma(302;0.034) TCCCCTTCATCCTGATCCTCC 0.637000 10 21 0 0 1 0 0 PCDHB4 56131 broad.mit.edu 37 5 140502961 140502961 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:140502961G>A ENST00000194152.1 + 1 1381 c.1381G>A c.(1381-1383)Gag>Aag p.E461K NM_018938.2 NP_061761.1 Q9Y5E5 PCDB4_HUMAN 461 Cadherin 5. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton calcium ion binding autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 67 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GTTCGTCCGCGAGAACAACAG 0.627000 17 255 0 0 1 0 0 ZNF682 91120 broad.mit.edu 37 19 20117040 20117040 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:20117040G>A ENST00000397165.2 - 4 1431 c.1271C>T c.(1270-1272)cCc>cTc p.P424L ZNF682_ENST00000397162.1_Missense_Mutation_p.P392L|ZNF682_ENST00000358523.5_Missense_Mutation_p.P392L|ZNF682_ENST00000597972.1_Missense_Mutation_p.P430L|ZNF682_ENST00000596019.1_Intron|ZNF682_ENST00000595736.1_Missense_Mutation_p.P348L NM_033196.2 NP_149973.1 O95780 ZN682_HUMAN zinc finger protein 682 424 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1) 14 ACAGTTGTAGGGTTTCTCTCC 0.393000 25 81 0 0 1 0 0 AQP12B 653437 broad.mit.edu 37 2 241622208 241622208 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:241622208G>A ENST00000407834.3 - 1 109 c.47C>T c.(46-48)aCc>aTc p.T16I NM_001102467.1 NP_001095937.1 A6NM10 AQ12B_HUMAN aquaporin 12B 16 integral to membrane transporter activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|lung(8)|ovary(1) 13 all_epithelial(40;1.71e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|all_neural(83;0.0459)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(32;2.2e-31)|all cancers(36;1.08e-28)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.52e-06)|Lung(119;0.00163)|LUSC - Lung squamous cell carcinoma(224;0.008)|Colorectal(34;0.0124)|COAD - Colon adenocarcinoma(134;0.0757) CTCACAGAGGGTGAAGGTGGC 0.677000 13 68 0 0 1 0 0 CALN1 83698 broad.mit.edu 37 7 71275406 71275406 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:71275406C>T ENST00000395275.2 - 6 961 c.573G>A c.(571-573)acG>acA p.T191T CALN1_ENST00000431984.1_Silent_p.T149T|CALN1_ENST00000405452.2_Silent_p.T149T|CALN1_ENST00000395276.2_Silent_p.T149T|CALN1_ENST00000329008.5_Silent_p.T149T|CALN1_ENST00000412588.1_Silent_p.T191T NM_031468.3 NP_113656.2 Q9BXU9 CABP8_HUMAN calneuron 1 149 Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|plasma membrane calcium ion binding p.T149T(1) biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(6)|lung(19)|skin(2) 32 all_cancers(73;0.069)|Lung NSC(55;0.0658)|all_lung(88;0.0912)|all_epithelial(88;0.161) TGTCCTTCATCGTTAGGTGGT 0.463000 52 175 0 0 1 0 0 ZNF283 284349 broad.mit.edu 37 19 44352321 44352321 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:44352321C>T ENST00000324461.7 + 7 1865 c.1568C>T c.(1567-1569)gCt>gTt p.A523V ZNF283_ENST00000588797.1_Missense_Mutation_p.A384V NM_181845.1 NP_862828.1 Q8N7M2 ZN283_HUMAN zinc finger protein 283 523 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|large_intestine(3)|lung(4) 8 Prostate(69;0.0352) TGTGGGAAGGCTTTTAATTGT 0.408000 48 110 0 0 1 0 0 SCN2A 6326 broad.mit.edu 37 2 166183400 166183400 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:166183400C>T ENST00000375437.2 + 13 2345 c.2055C>T c.(2053-2055)tcC>tcT p.S685S SCN2A_ENST00000375427.2_Silent_p.S685S|SCN2A_ENST00000357398.3_Silent_p.S685S|SCN2A_ENST00000283256.6_Silent_p.S685S NM_001040142.1 NP_001035232.1 Q99250 SCN2A_HUMAN sodium channel, voltage-gated, type II, alpha subunit 685 myelination node of Ranvier|voltage-gated sodium channel complex voltage-gated sodium channel activity NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 118 Lamotrigine(DB00555) AGAGACGGTCCAGTTCTTATC 0.378000 50 95 0 0 1 0 0 COL14A1 7373 broad.mit.edu 37 8 121256236 121256236 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:121256236C>T ENST00000297848.3 + 20 2738 c.2468C>T c.(2467-2469)cCt>cTt p.P823L COL14A1_ENST00000309791.4_Missense_Mutation_p.P823L|COL14A1_ENST00000432943.2_3'UTR|COL14A1_ENST00000247781.3_Missense_Mutation_p.P728L NM_021110.1 NP_066933.1 Q05707 COEA1_HUMAN collagen, type XIV, alpha 1 823 Fibronectin type-III 6. cell-cell adhesion|collagen fibril organization collagen type XIV|extracellular space collagen binding|extracellular matrix structural constituent|protein binding, bridging NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2) 119 Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161) OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503) GTCTCCGCTCCTGGAAAAACC 0.473000 58 137 0 0 1 0 0 AKAP13 11214 broad.mit.edu 37 15 86225414 86225414 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr15:86225414C>T ENST00000394518.2 + 15 5222 c.5127C>T c.(5125-5127)ttC>ttT p.F1709F AKAP13_ENST00000361243.2_Silent_p.F1713F|AKAP13_ENST00000394510.2_5'UTR|AKAP13_ENST00000560579.1_3'UTR NM_001270546.1|NM_007200.3 NP_001257475.1|NP_009131.2 Q12802 AKP13_HUMAN A kinase (PRKA) anchor protein 13 1709 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|membrane|membrane fraction|nucleus cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity p.F1713L(1) NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 98 ACAGTACCTTCCACAATACCA 0.328000 30 63 0 0 1 0 0 LYG2 254773 broad.mit.edu 37 2 99861917 99861917 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:99861917G>A ENST00000409679.1 - 4 333 c.189C>T c.(187-189)atC>atT p.I63I LYG2_ENST00000333017.2_Silent_p.I63I|LYG2_ENST00000409238.1_Silent_p.I63I Q86SG7 LYG2_HUMAN lysozyme G-like 2 63 cell wall macromolecule catabolic process|peptidoglycan catabolic process extracellular region lysozyme activity large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(1)|stomach(1) 12 CAGAACCACGGATCCCTACGT 0.483000 32 53 0 0 1 0 0 DCHS2 54798 broad.mit.edu 37 4 155157704 155157704 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:155157704G>A ENST00000357232.3 - 25 6734 c.6735C>T c.(6733-6735)atC>atT p.I2245I NM_017639.3 NP_060109.2 Q6V1P9 PCD23_HUMAN dachsous cadherin-related 2 2245 Cadherin 20. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 176 all_hematologic(180;0.208) Renal(120;0.0854) LUSC - Lung squamous cell carcinoma(193;0.107) TGTTGTAGATGATTTCTGCAT 0.418000 11 94 0 0 1 0 0 OR2G2 81470 broad.mit.edu 37 1 247751937 247751937 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:247751937G>A ENST00000320065.1 + 1 276 c.276G>A c.(274-276)atG>atA p.M92I RP11-978I15.10_ENST00000435333.1_RNA|RP11-978I15.10_ENST00000446347.1_RNA NM_001001915.1 NP_001001915.1 Q8NGZ5 OR2G2_HUMAN olfactory receptor, family 2, subfamily G, member 2 92 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) OV - Ovarian serous cystadenocarcinoma(106;0.017) GGGAACCCATGAAAACTATCG 0.522000 57 167 0 0 1 0 0 USH2A 7399 broad.mit.edu 37 1 216251603 216251603 + Nonsense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:216251603C>T ENST00000366943.2 - 27 5786 c.5400G>A c.(5398-5400)tgG>tgA p.W1800* USH2A_ENST00000307340.3_Nonsense_Mutation_p.W1800*|RP11-22M7.2_ENST00000430890.1_RNA|RP11-22M7.2_ENST00000445619.1_RNA|RP11-22M7.2_ENST00000446411.1_RNA O75445 USH2A_HUMAN Usher syndrome 2A (autosomal recessive, mild) 1800 Laminin G-like 2. maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3) 527 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) TGACTTTATTCCACTTTCCAT 0.433000 HNSCC(13;0.011) 170 440 0 0 1 0 0 CPS1 1373 broad.mit.edu 37 2 211467019 211467019 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:211467019C>T ENST00000233072.5 + 16 1997 c.1801C>T c.(1801-1803)Ccc>Tcc p.P601S CPS1_ENST00000430249.2_Missense_Mutation_p.P607S|CPS1_ENST00000451903.2_Missense_Mutation_p.P150S NM_001875.4 NP_001866.2 P31327 CPSM_HUMAN carbamoyl-phosphate synthase 1, mitochondrial 601 ATP-grasp 1. carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle mitochondrial nucleoid ATP binding|carbamoyl-phosphate synthase (ammonia) activity breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 142 Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843) AGGCATCTGTCCCAACAGAGA 0.458000 56 99 0 0 1 0 0 RYR1 6261 broad.mit.edu 37 19 39001171 39001171 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:39001171C>T ENST00000355481.4 + 59 9097 c.8966C>T c.(8965-8967)tCc>tTc p.S2989F RYR1_ENST00000360985.3_Missense_Mutation_p.S2989F|RYR1_ENST00000359596.3_Missense_Mutation_p.S2989F NM_000540.2|NM_001042723.1 NP_000531.2|NP_001036188.1 P21817 RYR1_HUMAN ryanodine receptor 1 (skeletal) 2989 muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7) 285 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) GTGGAAAAGTCCCCACATGAA 0.562000 34 79 0 0 1 0 0 CES3 23491 broad.mit.edu 37 16 66997759 66997759 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr16:66997759G>A ENST00000303334.4 + 4 552 c.481G>A c.(481-483)Gat>Aat p.D161N CES3_ENST00000394037.1_Missense_Mutation_p.D161N NM_024922.5 NP_079198.2 Q6UWW8 EST3_HUMAN carboxylesterase 3 161 endoplasmic reticulum lumen carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|ovary(3)|skin(1) 24 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0488)|Epithelial(162;0.127) CACCTCCTACGATGGATCAGC 0.602000 41 53 0 0 1 0 0 AP3B2 8120 broad.mit.edu 37 15 83335619 83335619 + Missense_Mutation SNP G G A rs140388339 by1000genomes TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr15:83335619G>A ENST00000261722.3 - 15 1939 c.1732C>T c.(1732-1734)Cgg>Tgg p.R578W AP3B2_ENST00000535348.1_Missense_Mutation_p.R546W|RP11-752G15.3_ENST00000560650.1_RNA|AP3B2_ENST00000535359.1_Missense_Mutation_p.R578W NM_004644.3 NP_004635.2 Q13367 AP3B2_HUMAN adaptor-related protein complex 3, beta 2 subunit 578 endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport clathrin coated vesicle membrane|COPI-coated vesicle|membrane coat binding|protein transporter activity breast(4)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(2) 41 BRCA - Breast invasive adenocarcinoma(143;0.229) AAGCGCGCCCGGTCGCGAATA 0.602000 44 91 0 0 1 0 0 HIST1H2BC 8347 broad.mit.edu 37 6 26124120 26124120 + Missense_Mutation SNP C C T rs1142845 TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:26124120C>T ENST00000314332.5 - 1 18 c.13G>A c.(13-15)Gcc>Acc p.A5T HIST1H2BC_ENST00000396984.1_Missense_Mutation_p.A5T P62807 H2B1C_HUMAN histone cluster 1, H2bc 5 A -> S (in Ref. 2; CAB02545). defense response to bacterium|nucleosome assembly nucleosome|nucleus DNA binding|protein binding NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|ovary(1) 16 GCAGACTTGGCTGGCTCAGGC 0.507000 8 229 0 0 1 0 0 ZNF273 10793 broad.mit.edu 37 7 64388571 64388571 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:64388571C>T ENST00000476120.1 + 4 936 c.865C>T c.(865-867)Cct>Tct p.P289S ZNF273_ENST00000527278.1_3'UTR|ZNF273_ENST00000319636.5_Missense_Mutation_p.P224S NM_021148.2 NP_066971.2 Q14593 ZN273_HUMAN zinc finger protein 273 289 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 Lung NSC(55;0.0295)|all_lung(88;0.0691) TGAAGAGAAACCTTACAAATG 0.333000 36 74 0 0 1 0 0 FAM83C 128876 broad.mit.edu 37 20 33874500 33874500 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr20:33874500C>T ENST00000374408.3 - 4 2178 c.2082G>A c.(2080-2082)caG>caA p.Q694Q NM_178468.5 NP_848563.1 Q9BQN1 FA83C_HUMAN family with sequence similarity 83, member C 694 central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 40 BRCA - Breast invasive adenocarcinoma(18;0.00252) GCTCAGTTCCCTGCCTGGCCC 0.602000 46 88 0 0 1 0 0 SMTNL1 219537 broad.mit.edu 37 11 57310143 57310143 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:57310143G>A ENST00000457912.1 + 2 82 c.82G>A c.(82-84)Gag>Aag p.E28K SMTNL1_ENST00000399154.2_Missense_Mutation_p.E10K|SMTNL1_ENST00000527972.1_Missense_Mutation_p.E10K E9PPJ3 E9PPJ3_HUMAN smoothelin-like 1 10 endometrium(2)|large_intestine(1)|lung(4)|ovary(1) 8 GAAGCTCTCTGAGGATGGGAC 0.587000 18 23 0 0 1 0 0 ZDBF2 57683 broad.mit.edu 37 2 207173693 207173693 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:207173693G>A ENST00000374423.3 + 5 4827 c.4441G>A c.(4441-4443)Gaa>Aaa p.E1481K NM_020923.1 NP_065974.1 Q9HCK1 ZDBF2_HUMAN zinc finger, DBF-type containing 2 1481 nucleic acid binding|zinc ion binding endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 95 CCTTCAGAAGGAAGAGCATGT 0.378000 16 36 0 0 1 0 0 SLC4A1 6521 broad.mit.edu 37 17 42335986 42335986 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:42335986G>A ENST00000262418.6 - 10 1037 c.882C>T c.(880-882)ttC>ttT p.F294F AC003043.1_ENST00000597382.1_Intron NM_000342.3 NP_000333.1 P02730 B3AT_HUMAN solute carrier family 4 (anion exchanger), member 1 294 bicarbonate transport|cellular ion homeostasis basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane|Z disc ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1) 40 Breast(137;0.014)|Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.115) CATCTATGCGGAACACCTAGG 0.652000 10 17 0 0 1 0 0 PCDHAC1 56135 broad.mit.edu 37 5 140308567 140308567 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:140308567G>A ENST00000253807.2 + 1 2090 c.2090G>A c.(2089-2091)gGg>gAg p.G697E PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHAC1_ENST00000409700.3_Missense_Mutation_p.G697E|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA4_ENST00000530339.1_Intron NM_018898.3 NP_061721.2 NS(2)|breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|liver(2)|lung(13)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4) 65 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TTATTTCTGGGGTGCTTACTT 0.478000 70 161 0 0 1 0 0 OSMR 9180 broad.mit.edu 37 5 38917696 38917696 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:38917696G>A ENST00000274276.3 + 10 1736 c.1334G>A c.(1333-1335)gGa>gAa p.G445E NM_003999.2 NP_003990.1 Q99650 OSMR_HUMAN oncostatin M receptor 445 Fibronectin type-III 2. cell proliferation|positive regulation of cell proliferation oncostatin-M receptor complex growth factor binding|oncostatin-M receptor activity NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 46 all_lung(31;0.000365) TTGGAGCCAGGAAATCATACT 0.403000 33 263 0 0 1 0 0 PRF1 5551 broad.mit.edu 37 10 72358892 72358892 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:72358892C>T ENST00000441259.1 - 3 745 c.585G>A c.(583-585)agG>agA p.R195R PRF1_ENST00000373209.2_Silent_p.R195R NM_001083116.1|NM_005041.4 NP_001076585.1|NP_005032.2 P14222 PERF_HUMAN perforin 1 (pore forming protein) 195 MACPF. apoptosis|cellular defense response|cytolysis|defense response to tumor cell|defense response to virus|immune response to tumor cell|protein homooligomerization cytolytic granule|endosome lumen|extracellular region|integral to membrane|plasma membrane calcium ion binding|protein binding|wide pore channel activity breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(3)|urinary_tract(3) 23 CCCCGAGGGCCCTCTTGAAGT 0.612000 M """various leukaemia, lymphoma""" Type 2 familial hemophagocytic lymphohistiocytosis Familial Hemophagocytic Lymphohistiocytosis 13 52 0 0 1 0 0 TOP3A 7156 broad.mit.edu 37 17 18186106 18186106 + Nonsense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:18186106G>A ENST00000321105.5 - 16 2141 c.1927C>T c.(1927-1929)Cag>Tag p.Q643* TOP3A_ENST00000540524.1_Nonsense_Mutation_p.Q173*|TOP3A_ENST00000542570.1_Nonsense_Mutation_p.Q548* NM_004618.3 NP_004609.1 Q13472 TOP3A_HUMAN topoisomerase (DNA) III alpha 643 DNA topological change|meiosis chromosome|PML body ATP binding|DNA topoisomerase type I activity|protein binding|zinc ion binding breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(2)|urinary_tract(1) 36 TCTTCTTGCTGGGCCAACTCT 0.532000 7 207 0 0 1 0 0 H2BFWT 158983 broad.mit.edu 37 X 103268065 103268065 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chrX:103268065C>T ENST00000217926.5 - 1 194 c.168G>A c.(166-168)caG>caA p.Q56Q NM_001002916.3 NP_001002916.2 Q7Z2G1 H2BWT_HUMAN H2B histone family, member W, testis-specific 56 nucleosome assembly nuclear membrane|nucleosome DNA binding breast(2)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1) 16 TGCTCTGCTTCTGGGACGTAG 0.642000 27 12 0 0 1 0 0 CIT 11113 broad.mit.edu 37 12 120313961 120313961 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:120313961G>A ENST00000392521.2 - 2 67 c.12C>T c.(10-12)ttC>ttT p.F4F CIT_ENST00000261833.7_Silent_p.F4F NM_001206999.1 NP_001193928.1 O14578 CTRO_HUMAN citron (rho-interacting, serine/threonine kinase 21) 4 intracellular signal transduction ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6) 86 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) Myeloproliferative disorder(1001;0.0255) BRCA - Breast invasive adenocarcinoma(302;0.211) CTCCATATTTGAACTTCAACA 0.522000 45 68 0 0 1 0 0 PHF21A 51317 broad.mit.edu 37 11 45975083 45975083 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:45975083G>A ENST00000257821.4 - 10 1713 c.1090C>T c.(1090-1092)Cct>Tct p.P364S PHF21A_ENST00000418153.2_Missense_Mutation_p.P363S|PHF21A_ENST00000527753.1_5'UTR|PHF21A_ENST00000323180.6_Missense_Mutation_p.P364S NM_001101802.1 NP_001095272.1 Q96BD5 PF21A_HUMAN PHD finger protein 21A 363 blood coagulation|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|transcription, DNA-dependent histone deacetylase complex DNA binding|zinc ion binding central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(10)|lung(9)|skin(2)|upper_aerodigestive_tract(2) 29 CCTACCTGAGGGTTCTCCTCC 0.488000 9 50 0 0 1 0 0 WWC1 23286 broad.mit.edu 37 5 167850639 167850639 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:167850639C>T ENST00000265293.4 + 11 1878 c.1376C>T c.(1375-1377)tCa>tTa p.S459L WWC1_ENST00000521089.1_Missense_Mutation_p.S459L NM_001161661.1|NM_001161662.1|NM_015238.2 NP_001155133.1|NP_001155134.1|NP_056053.1 Q8IX03 KIBRA_HUMAN WW and C2 domain containing 1 459 cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus|perinuclear region of cytoplasm|ruffle membrane protein binding|transcription coactivator activity p.S459*(1) breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4) 43 Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166) Medulloblastoma(196;0.0399)|all_neural(177;0.0577) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918) TCCTCCACTTCAGCCAGCTTC 0.627000 10 194 0 0 1 0 0 SPEG 10290 broad.mit.edu 37 2 220346385 220346385 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:220346385G>A ENST00000312358.7 + 28 5680 c.5548G>A c.(5548-5550)Gaa>Aaa p.E1850K SPEG_ENST00000485813.1_3'UTR NM_005876.4 NP_005867.3 Q15772 SPEG_HUMAN SPEG complex locus 1850 Protein kinase 1. muscle organ development|negative regulation of cell proliferation nucleus ATP binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4) 100 Renal(207;0.0183) Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163) AGAGACCCTAGAACATCCTTG 0.438000 26 53 0 0 1 0 0 NAALADL1 10004 broad.mit.edu 37 11 64824935 64824935 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:64824935C>T ENST00000358658.3 - 4 538 c.511G>A c.(511-513)Gaa>Aaa p.E171K NAALADL1_ENST00000340252.4_Missense_Mutation_p.E171K|NAALADL1_ENST00000339885.2_Missense_Mutation_p.E171K|NAALADL1_ENST00000356632.3_Missense_Mutation_p.E171K|NAALADL1_ENST00000355721.3_Intron|NAALADL1_ENST00000355369.2_Missense_Mutation_p.E171K NM_005468.2 NP_005459.2 Q9UQQ1 NALDL_HUMAN N-acetylated alpha-linked acidic dipeptidase-like 1 171 proteolysis apical plasma membrane|integral to membrane carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2) 29 AAGTCTTCTTCCGCGCCCCGG 0.602000 24 65 0 0 1 0 0 VWA3B 200403 broad.mit.edu 37 2 98779410 98779410 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:98779410C>T ENST00000477737.1 + 8 1289 c.1085C>T c.(1084-1086)cCc>cTc p.P362L VWA3B_ENST00000435344.1_Missense_Mutation_p.P362L|VWA3B_ENST00000451075.2_Missense_Mutation_p.P212L NM_144992.4 NP_659429.4 Q502W6 VWA3B_HUMAN von Willebrand factor A domain containing 3B 362 NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 70 GCCGAGCCTCCCAAGCCCGAC 0.567000 11 109 0 0 1 0 0 DOPEY1 23033 broad.mit.edu 37 6 83847360 83847360 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:83847360C>T ENST00000349129.2 + 21 3859 c.3599C>T c.(3598-3600)tCc>tTc p.S1200F DOPEY1_ENST00000237163.5_Missense_Mutation_p.S1181F|DOPEY1_ENST00000369739.3_Missense_Mutation_p.S1191F NM_015018.3 NP_055833.2 Q5JWR5 DOP1_HUMAN dopey family member 1 1200 protein transport breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 67 all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203) BRCA - Breast invasive adenocarcinoma(397;0.053) GAAGATGACTCCATTCAACAG 0.418000 41 75 0 0 1 0 0 SERPINA6 866 broad.mit.edu 37 14 94770798 94770798 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr14:94770798G>A ENST00000341584.3 - 5 1321 c.1175C>T c.(1174-1176)aCc>aTc p.T392I NM_001756.3 NP_001747.2 P08185 CBG_HUMAN serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6 392 regulation of proteolysis|transport extracellular space serine-type endopeptidase inhibitor activity|steroid binding central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(1) 26 all_cancers(154;0.0482)|all_epithelial(191;0.166) COAD - Colon adenocarcinoma(157;0.211) Alclometasone(DB00240)|Beclomethasone(DB00394)|Ciclesonide(DB01410)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Halobetasol Propionate(DB00596)|Medrysone(DB00253)|Mitotane(DB00648)|Paramethasone(DB01384)|Prednisolone(DB00860)|Rimexolone(DB00896)|Triamcinolone(DB00620) GCTGCTCCAGGTGAAGTGGTC 0.547000 31 62 0 0 1 0 0 TRIM5 85363 broad.mit.edu 37 11 5686260 5686260 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:5686260G>A ENST00000305836.5 - 8 1563 c.1261C>T c.(1261-1263)Cct>Tct p.P421S TRIM5_ENST00000396847.3_3'UTR|TRIM5_ENST00000396855.3_Intron|TRIM5_ENST00000380034.3_Missense_Mutation_p.P421S|TRIM5_ENST00000380027.1_Intron|TRIM5_ENST00000396853.4_Intron|TRIM5_ENST00000483835.1_Intron Q9C035 TRIM5_HUMAN tripartite motif containing 5 421 B30.2/SPRY. interspecies interaction between organisms|protein trimerization|response to virus cytoplasm|cytoplasmic mRNA processing body ligase activity|protein binding|protein homodimerization activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 21 Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)|Lung NSC(207;0.138)|all_lung(207;0.221) Epithelial(150;7.21e-09)|BRCA - Breast invasive adenocarcinoma(625;0.139) GGAACAGAAGGAGTATGGAAG 0.393000 9 81 0 0 1 0 0 XYLT1 64131 broad.mit.edu 37 16 17221565 17221565 + Silent SNP G G A rs112238716 TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr16:17221565G>A ENST00000261381.6 - 10 2265 c.2181C>T c.(2179-2181)atC>atT p.I727I NM_022166.3 NP_071449.1 Q86Y38 XYLT1_HUMAN xylosyltransferase I 727 glycosaminoglycan biosynthetic process endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane acetylglucosaminyltransferase activity|protein xylosyltransferase activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 67 GTGGGCTTGCGATCTTGAAGA 0.493000 95 214 0 0 1 0 0 IFT122 55764 broad.mit.edu 37 3 129221566 129221566 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:129221566C>T ENST00000296266.3 + 21 2733 c.2541C>T c.(2539-2541)atC>atT p.I847I IFT122_ENST00000440957.2_Silent_p.I587I|IFT122_ENST00000513932.1_3'UTR|IFT122_ENST00000347300.2_Silent_p.I737I|IFT122_ENST00000504021.1_Silent_p.I672I|IFT122_ENST00000349441.2_Silent_p.I685I|IFT122_ENST00000507564.1_Silent_p.I788I|IFT122_ENST00000431818.2_Silent_p.I646I|IFT122_ENST00000348417.2_Silent_p.I796I NM_052985.2 NP_443711.2 Q9HBG6 IF122_HUMAN intraflagellar transport 122 homolog (Chlamydomonas) 796 camera-type eye morphogenesis|cilium morphogenesis|embryonic body morphogenesis|embryonic heart tube development|limb development|neural tube closure microtubule basal body|photoreceptor connecting cilium breast(3)|cervix(1)|endometrium(9)|large_intestine(10)|lung(21)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 52 TGATCGACATCGCCCGCAAAC 0.597000 12 197 0 0 1 0 0 ARHGEF40 55701 broad.mit.edu 37 14 21543074 21543074 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr14:21543074G>A ENST00000298694.4 + 3 1312 c.1185G>A c.(1183-1185)ggG>ggA p.G395G ARHGEF40_ENST00000298693.3_Silent_p.G395G Q8TER5 ARH40_HUMAN Rho guanine nucleotide exchange factor (GEF) 40 395 Gly-rich. regulation of Rho protein signal transduction cytoplasm Rho guanyl-nucleotide exchange factor activity large_intestine(4)|ovary(3)|upper_aerodigestive_tract(2) 9 GCCGAGGAGGGGACAGTGCCC 0.602000 52 116 0 0 1 0 0 ZNF695 57116 broad.mit.edu 37 1 247163262 247163262 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:247163262G>A ENST00000339986.7 - 2 265 c.118C>T c.(118-120)Ctg>Ttg p.L40L ZNF695_ENST00000498046.2_Intron|ZNF695_ENST00000487338.2_Silent_p.L40L NM_020394.4 NP_065127.4 Q8IW36 ZN695_HUMAN zinc finger protein 695 40 KRAB. regulation of transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding endometrium(1)|large_intestine(1)|lung(9)|prostate(1)|urinary_tract(1) 13 all_cancers(71;4.01e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518) all_cancers(173;0.0266) OV - Ovarian serous cystadenocarcinoma(106;0.00271) AGGGAGATCAGGTTTCTGTAG 0.433000 23 95 0 0 1 0 0 DOCK2 1794 broad.mit.edu 37 5 169446110 169446110 + Missense_Mutation SNP A A G TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:169446110A>G ENST00000256935.8 + 33 3459 c.3379A>G c.(3379-3381)Aag>Gag p.K1127E DOCK2_ENST00000520908.1_Missense_Mutation_p.K619E|DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000540750.1_Missense_Mutation_p.K188E NM_004946.2 NP_004937.1 Q92608 DOCK2_HUMAN dedicator of cytokinesis 2 1127 DHR-2.|Interaction with CRKL. actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction cytoskeleton|cytosol|endomembrane system|membrane electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3) 160 Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) GGATTTCAAAAAGGTAAAAAA 0.458000 5 214 0 0 1 0 0 ERICH1 157697 broad.mit.edu 37 8 623454 623454 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:623454C>T ENST00000262109.7 - 4 975 c.898G>A c.(898-900)Gac>Aac p.D300N ERICH1_ENST00000522706.1_Missense_Mutation_p.D206N NM_207332.1 NP_997215.1 Q86X53 ERIC1_HUMAN glutamate-rich 1 300 Glu-rich. endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|pancreas(1) 20 Colorectal(14;0.158)|Ovarian(12;0.17)|Myeloproliferative disorder(644;0.185)|Hepatocellular(245;0.236) Epithelial(5;3.29e-14)|BRCA - Breast invasive adenocarcinoma(11;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(5;3.65e-06)|READ - Rectum adenocarcinoma(1;0.0325) TCGCTGGCGTCCGCACCGTCC 0.622000 97 172 0 0 1 0 0 KRT33A 3883 broad.mit.edu 37 17 39504831 39504831 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:39504831C>T ENST00000007735.3 - 3 536 c.492G>A c.(490-492)agG>agA p.R164R NM_004138.3 NP_004129.2 O76009 KT33A_HUMAN keratin 33A 164 Coil 1B.|Rod. intermediate filament protein binding|structural molecule activity endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2) 21 Breast(137;0.000496) CATCCAGGATCCTGCGCAGGC 0.602000 68 136 0 0 1 0 0 LAMB4 22798 broad.mit.edu 37 7 107688398 107688398 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:107688398G>A ENST00000388781.3 - 28 4364 c.4281C>T c.(4279-4281)tcC>tcT p.S1427S LAMB4_ENST00000388780.3_Silent_p.S1427S|LAMB4_ENST00000205386.4_Silent_p.S1427S NM_007356.2 NP_031382.2 A4D0S4 LAMB4_HUMAN laminin, beta 4 1427 Domain I. cell adhesion basement membrane NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4) 97 TACGAATAATGGATTTTGCTT 0.473000 40 162 0 0 1 0 0 KCNT1 57582 broad.mit.edu 37 9 138642882 138642882 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:138642882C>T ENST00000298480.5 + 4 503 c.429C>T c.(427-429)atC>atT p.I143I KCNT1_ENST00000371757.2_Silent_p.I143I|KCNT1_ENST00000263604.3_Silent_p.I124I|KCNT1_ENST00000486577.2_Silent_p.I104I|KCNT1_ENST00000488444.2_Silent_p.I124I|KCNT1_ENST00000487664.1_Silent_p.I95I|KCNT1_ENST00000490355.2_Silent_p.I124I|KCNT1_ENST00000491806.2_Silent_p.I110I B7ZVY4 B7ZVY4_HUMAN potassium channel, subfamily T, member 1 143 membrane binding|calcium-activated potassium channel activity breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 50 Myeloproliferative disorder(178;0.0821) OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05) CCCTGGGCATCGGATGGTGGG 0.687000 37 72 0 0 1 0 0 VPS13B 157680 broad.mit.edu 37 8 100865834 100865834 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:100865834C>T ENST00000358544.2 + 56 10403 c.10292C>T c.(10291-10293)cCt>cTt p.P3431L VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Missense_Mutation_p.P3406L NM_017890.4 NP_060360.3 Q7Z7G8 VP13B_HUMAN vacuolar protein sorting 13 homolog B (yeast) 3431 protein transport NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9) 193 Breast(36;3.73e-07) OV - Ovarian serous cystadenocarcinoma(57;0.00636) GGTCCCCTCCCTGGGGAAGAG 0.522000 20 86 0 0 1 0 0 SPATA18 132671 broad.mit.edu 37 4 52926626 52926626 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:52926626C>T ENST00000295213.4 + 2 503 c.129C>T c.(127-129)ctC>ctT p.L43L SPATA18_ENST00000419395.2_Silent_p.L43L|SPATA18_ENST00000506829.1_Intron NM_145263.2 NP_660306.1 Q8TC71 MIEAP_HUMAN spermatogenesis associated 18 43 mitochondrial protein catabolic process|mitochondrion degradation by induced vacuole formation|response to DNA damage stimulus mitochondrial outer membrane protein binding breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 41 GBM - Glioblastoma multiforme(4;1.77e-13)|LUSC - Lung squamous cell carcinoma(32;0.00204) GCCTTGAACTCATTGAGCAAG 0.478000 19 43 0 0 1 0 0 LRFN2 57497 broad.mit.edu 37 6 40359999 40359999 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:40359999C>T ENST00000338305.6 - 3 2595 c.2053G>A c.(2053-2055)Ggg>Agg p.G685R NM_020737.1 NP_065788.1 Q9ULH4 LRFN2_HUMAN leucine rich repeat and fibronectin type III domain containing 2 685 cell junction|integral to membrane|postsynaptic membrane breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 58 Ovarian(28;0.0418)|Colorectal(47;0.196) GCCGACGTCCCAGCCCCTCTC 0.711000 12 20 0 0 1 0 0 PLCH1 23007 broad.mit.edu 37 3 155200272 155200272 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:155200272C>T ENST00000460012.1 - 23 3810 c.3453G>A c.(3451-3453)gaG>gaA p.E1151E PLCH1_ENST00000494598.1_Intron|PLCH1_ENST00000414191.1_Silent_p.E1151E|PLCH1_ENST00000340059.7_Silent_p.E1189E|PLCH1_ENST00000334686.6_Silent_p.E1151E|PLCH1_ENST00000447496.2_3'UTR Q4KWH8 PLCH1_HUMAN phospholipase C, eta 1 1189 lipid catabolic process|phosphatidylinositol-mediated signaling membrane calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4) 107 Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114) CCGGCTCATTCTCATTTGTTA 0.433000 42 59 0 0 1 0 0 ECHDC3 79746 broad.mit.edu 37 10 11797432 11797432 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:11797432C>T ENST00000379215.4 + 4 627 c.416C>T c.(415-417)cCc>cTc p.P139L ECHDC3_ENST00000496136.1_3'UTR NM_024693.4 NP_078969.2 Q96DC8 ECHD3_HUMAN enoyl CoA hydratase domain containing 3 139 mitochondrion catalytic activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1) 4 CGGAACCACCCCGTTCCCGTC 0.552000 21 52 0 0 1 0 0 CNTN4 152330 broad.mit.edu 37 3 2967331 2967331 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:2967331C>T ENST00000397461.1 + 12 1610 c.1226C>T c.(1225-1227)tCa>tTa p.S409L CNTN4_ENST00000418658.1_Missense_Mutation_p.S409L|CNTN4_ENST00000475817.1_3'UTR|CNTN4_ENST00000358480.3_Missense_Mutation_p.S190L|CNTN4_ENST00000448906.2_Missense_Mutation_p.S81L|CNTN4_ENST00000427331.1_Missense_Mutation_p.S409L|CNTN4_ENST00000397459.2_Missense_Mutation_p.S81L NM_001206955.1 NP_001193884.1 Q8IWV2 CNTN4_HUMAN contactin 4 409 Ig-like C2-type 5. axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity anchored to membrane|axon|extracellular region|plasma membrane protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 61 Ovarian(110;0.156) Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01) CCAGATTTTTCAAGAACACTC 0.368000 60 114 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179611541 179611541 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:179611541C>T ENST00000360870.5 - 46 15808 c.15586G>A c.(15586-15588)Gaa>Aaa p.E5196K TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Intron|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000578746.1_RNA NM_133379.3 NP_596870.2 Q8WZ42 TITIN_HUMAN titin 8715 Ig-like 32. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GTTGTGTTTTCATATACCTTC 0.393000 58 124 0 0 1 0 0 TACC2 10579 broad.mit.edu 37 10 123846738 123846738 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:123846738G>A ENST00000369005.1 + 4 5063 c.4723G>A c.(4723-4725)Gct>Act p.A1575T TACC2_ENST00000358010.1_Intron|TACC2_ENST00000515603.1_Missense_Mutation_p.A1575T|TACC2_ENST00000334433.3_Missense_Mutation_p.A1575T|TACC2_ENST00000515273.1_Missense_Mutation_p.A1575T|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000453444.2_Missense_Mutation_p.A1575T NM_206862.2 NP_996744.2 O95359 TACC2_HUMAN transforming, acidic coiled-coil containing protein 2 1575 microtubule organizing center|nucleus nuclear hormone receptor binding NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 83 all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197) GGAGAGAGCTGCTGCCTTCCA 0.577000 4 83 0 0 1 0 0 OR51F1 256892 broad.mit.edu 37 11 4791007 4791007 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:4791007G>A ENST00000380383.1 - 1 161 c.162C>T c.(160-162)atC>atT p.I54I OR51F1_ENST00000343430.3_Silent_p.I47I|MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron A6NLW9 A6NLW9_HUMAN olfactory receptor, family 51, subfamily F, member 1 47 integral to membrane olfactory receptor activity kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 22 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778) Epithelial(150;5.87e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0045)|LUSC - Lung squamous cell carcinoma(625;0.192) TGACAAACAGGATCACGCTGT 0.473000 17 19 0 0 1 0 0 FRMPD4 9758 broad.mit.edu 37 X 12516831 12516831 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chrX:12516831C>T ENST00000380682.1 + 2 580 c.74C>T c.(73-75)cCc>cTc p.P25L NM_014728.3 NP_055543.2 Q14CM0 FRPD4_HUMAN FERM and PDZ domain containing 4 25 positive regulation of synapse structural plasticity cytoskeleton|dendritic spine phosphatidylinositol-4,5-bisphosphate binding|protein binding breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3) 22 TGGCCGCCTCCCTCGGGAACC 0.512000 5 97 0 0 1 0 0 KIAA1217 56243 broad.mit.edu 37 10 24813270 24813270 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:24813270C>T ENST00000376451.2 + 8 1784 c.1524C>T c.(1522-1524)ctC>ctT p.L508L KIAA1217_ENST00000307544.6_Silent_p.L508L|KIAA1217_ENST00000396446.1_Silent_p.L508L|KIAA1217_ENST00000376452.3_Silent_p.L790L|KIAA1217_ENST00000430453.2_Intron|KIAA1217_ENST00000396445.1_Silent_p.L508L|KIAA1217_ENST00000376462.1_Silent_p.L745L|KIAA1217_ENST00000458595.1_Silent_p.L790L|KIAA1217_ENST00000376454.3_Silent_p.L825L Q5T5P2 SKT_HUMAN KIAA1217 825 R -> H (in Ref. 1; BX648451). embryonic skeletal system development cytoplasm breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1) 70 CTGATGGGCTCCTGAAAGGCA 0.542000 44 97 0 0 1 0 0 SLIT3 6586 broad.mit.edu 37 5 168187868 168187868 + Splice_Site SNP T T A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:168187868T>A ENST00000519560.1 - 16 2103 c.1685_splice c.e16+1 p.I562_splice SLIT3_ENST00000332966.8_Splice_Site_p.I562_splice|SLIT3_ENST00000404867.3_Splice_Site_p.I562_splice NM_001271946.1|NM_003062.2 NP_001258875.1|NP_003053.1 O75094 SLIT3_HUMAN slit homolog 3 (Drosophila) 562 apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway extracellular space|mitochondrion calcium ion binding|Roundabout binding endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) TTGACTTACATTTTCCGCAGG 0.532000 30 53 0 0 1 0 0 AQP3 360 broad.mit.edu 37 9 33443864 33443864 + Silent SNP C C T rs59981139 TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:33443864C>T ENST00000297991.4 - 2 215 c.135G>A c.(133-135)caG>caA p.Q45Q AQP3_ENST00000493581.1_5'UTR NM_004925.4 NP_004916.1 Q92482 AQP3_HUMAN aquaporin 3 (Gill blood group) 45 excretion|odontogenesis|positive regulation of immune system process|regulation of keratinocyte differentiation|response to calcium ion|response to retinoic acid|response to vitamin D basolateral plasma membrane|cell-cell junction|cytoplasm glycerol channel activity|water channel activity endometrium(2)|large_intestine(3)|lung(2)|ovary(1) 8 LUSC - Lung squamous cell carcinoma(29;0.00788) GBM - Glioblastoma multiforme(74;0.0899) TGAGCACAACCTGGGCCACGG 0.602000 13 31 0 0 1 0 0 CARD11 84433 broad.mit.edu 37 7 2952939 2952939 + Missense_Mutation SNP A A G TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:2952939A>G ENST00000396946.4 - 22 3404 c.3001T>C c.(3001-3003)Ttc>Ctc p.F1001L NM_032415.4 NP_115791.3 Q9BXL7 CAR11_HUMAN caspase recruitment domain family, member 11 1001 Guanylate kinase-like. positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway cytosol|membrane raft|plasma membrane CARD domain binding|guanylate kinase activity NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2) 150 Ovarian(82;0.0115) OV - Ovarian serous cystadenocarcinoma(56;8.44e-14) CAGATGGTGAACTCCATGGCA 0.667000 Mis DLBCL 47 121 0 0 1 0 0 HFM1 164045 broad.mit.edu 37 1 91851246 91851246 + Nonsense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:91851246G>A ENST00000370425.3 - 5 738 c.640C>T c.(640-642)Cag>Tag p.Q214* HFM1_ENST00000370424.3_Intron|HFM1_ENST00000294696.5_5'UTR NM_001017975.3 NP_001017975.3 A2PYH4 HFM1_HUMAN HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae) 214 ATP binding|ATP-dependent helicase activity|nucleic acid binding p.Q214*(1) breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 75 all_lung(203;0.00961)|Lung NSC(277;0.0351) all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171) GCAGAATACTGAAATTTTTGC 0.358000 22 51 0 0 1 0 0 PRH1 5554 broad.mit.edu 37 12 11034876 11034876 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:11034876C>T ENST00000428168.2 - 4 496 c.459G>A c.(457-459)ggG>ggA p.G153G PRR4_ENST00000536668.1_5'UTR NM_006250.3 NP_006241.2 P02810 PRPC_HUMAN proline-rich protein HaeIII subfamily 1 153 extracellular space protein binding endometrium(1)|kidney(1)|lung(2)|upper_aerodigestive_tract(1) 5 BRCA - Breast invasive adenocarcinoma(232;0.245) GTGGGCGGCCCCCTTGGGGAG 0.587000 6 163 0 0 1 0 0 RABL3 285282 broad.mit.edu 37 3 120417281 120417281 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:120417281C>T ENST00000273375.3 - 5 552 c.523G>A c.(523-525)Gaa>Aaa p.E175K RABL3_ENST00000491398.1_5'UTR|RABL3_ENST00000483733.1_Missense_Mutation_p.E175K NM_173825.3 NP_776186.2 Q5HYI8 RABL3_HUMAN RAB, member of RAS oncogene family-like 3 175 Small GTPase-like. small GTPase mediated signal transduction GTP binding breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10) 17 GBM - Glioblastoma multiforme(114;0.151) AAATTAATTTCTTCTGGATTG 0.338000 78 204 0 0 1 0 0 TCL6 27004 broad.mit.edu 37 14 96131399 96131399 + RNA SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr14:96131399G>A ENST00000467865.1 + 0 1807 RP11-1070N10.6_ENST00000461160.1_RNA large_intestine(1)|lung(7) 8 all_cancers(154;0.103) Epithelial(152;0.0655)|all cancers(159;0.149)|BRCA - Breast invasive adenocarcinoma(234;0.206)|COAD - Colon adenocarcinoma(157;0.207) GCCCCTGGATGGATGCATGGG 0.557000 T TRA@ T-ALL 3 22 0 0 1 0 0 CLDN2 9075 broad.mit.edu 37 X 106171614 106171614 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chrX:106171614G>A ENST00000541806.1 + 2 675 c.156G>A c.(154-156)atG>atA p.M52I CLDN2_ENST00000336803.1_Missense_Mutation_p.M52I|CLDN2_ENST00000540876.1_Missense_Mutation_p.M52I NM_001171092.1 NP_001164563.1 P57739 CLD2_HUMAN claudin 2 52 calcium-independent cell-cell adhesion integral to membrane|tight junction identical protein binding|structural molecule activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1) 9 GCCTCTGGATGGAATGTGCCA 0.572000 51 34 0 0 1 0 0 SRCAP 10847 broad.mit.edu 37 16 30740727 30740727 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr16:30740727C>T ENST00000262518.4 + 27 6346 c.5961C>T c.(5959-5961)ccC>ccT p.P1987P SRCAP_ENST00000344771.4_Silent_p.P1829P|SRCAP_ENST00000395059.2_Silent_p.P1925P NM_006662.2 NP_006653.2 Q6ZRS2 SRCAP_HUMAN Snf2-related CREBBP activator protein 1987 interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent Golgi apparatus|nucleus|protein complex ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5) 136 Colorectal(24;0.198) AGGCACCTCCCCCTTCCCTGC 0.587000 7 66 0 0 1 0 0 DZIP1 22873 broad.mit.edu 37 13 96264355 96264355 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr13:96264355C>T ENST00000347108.3 - 9 1682 c.1250G>A c.(1249-1251)aGg>aAg p.R417K DZIP1_ENST00000361396.2_Missense_Mutation_p.R417K|DZIP1_ENST00000361156.3_Missense_Mutation_p.R417K|DZIP1_ENST00000376829.2_Missense_Mutation_p.R417K Q86YF9 DZIP1_HUMAN DAZ interacting zinc finger protein 1 417 germ cell development|multicellular organismal development|spermatogenesis cytoplasm|nucleus nucleic acid binding|protein binding|zinc ion binding endometrium(1)|kidney(1)|large_intestine(20)|lung(11)|ovary(2)|pancreas(1)|skin(1)|stomach(1) 38 all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163) BRCA - Breast invasive adenocarcinoma(86;0.141) ctcttctatccttttcttata 0.418000 44 31 0 0 1 0 0 WDR96 80217 broad.mit.edu 37 10 105891225 105891225 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:105891225C>T ENST00000357060.3 - 37 4810 c.4695G>A c.(4693-4695)gtG>gtA p.V1565V WDR96_ENST00000428666.1_Silent_p.V1537V NM_025145.5 NP_079421.5 Q8NDM7 WDR96_HUMAN WD repeat domain 96 1565 NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 72 TGCAGTTTTCCACATTCTTTT 0.308000 20 61 0 0 1 0 0 OR6K6 128371 broad.mit.edu 37 1 158724803 158724803 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:158724803C>T ENST00000368144.2 + 1 294 c.198C>T c.(196-198)atC>atT p.I66I NM_001005184.1 NP_001005184.1 Q8NGW6 OR6K6_HUMAN olfactory receptor, family 6, subfamily K, member 6 66 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|large_intestine(5)|lung(17)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 all_hematologic(112;0.0378) ACGGATTTATCCTAACTGGAA 0.458000 63 191 0 0 1 0 0 ATP12A 479 broad.mit.edu 37 13 25264765 25264765 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr13:25264765G>A ENST00000218548.6 + 7 1038 c.705G>A c.(703-705)ggG>ggA p.G235G ATP12A_ENST00000381946.3_Silent_p.G235G NM_001185085.1|NM_001676.5 NP_001172014.1|NP_001667.4 P54707 AT12A_HUMAN ATPase, H+/K+ transporting, nongastric, alpha polypeptide 235 ATP biosynthetic process hydrogen:potassium-exchanging ATPase complex ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5) 74 Lung SC(185;0.0225)|Breast(139;0.077) all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228) Esomeprazole(DB00736)|Pantoprazole(DB00213) CTCTCACGGGGGAGTCTGAGC 0.502000 23 211 0 0 1 0 0 RAD54B 25788 broad.mit.edu 37 8 95399295 95399295 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:95399295G>A ENST00000336148.5 - 11 2026 c.1902C>T c.(1900-1902)ctC>ctT p.L634L NM_012415.3 NP_036547.1 O95073 FSBP_HUMAN RAD54 homolog B (S. cerevisiae) 0 double-strand break repair via homologous recombination|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA translocase activity|protein binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(10)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 Breast(36;4.5e-05) BRCA - Breast invasive adenocarcinoma(8;0.00217) CAGTAAACAGGAGAGGGTTGT 0.393000 Direct reversal of damage;Homologous recombination 31 58 0 0 1 0 0 TPK1 27010 broad.mit.edu 37 7 144345904 144345904 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:144345904G>A ENST00000360057.3 - 5 356 c.254C>T c.(253-255)aCt>aTt p.T85I TPK1_ENST00000378099.3_Missense_Mutation_p.T85I|TPK1_ENST00000538212.2_Missense_Mutation_p.T80I|TPK1_ENST00000549981.1_5'UTR|TPK1_ENST00000547966.1_5'UTR NM_022445.3 NP_071890.2 Q9H3S4 TPK1_HUMAN thiamin pyrophosphokinase 1 85 thiamine diphosphate biosynthetic process cytosol ATP binding|kinase activity|thiamine diphosphokinase activity large_intestine(3)|lung(12)|ovary(2)|urinary_tract(2) 19 Thiamine(DB00152) ATTTACCTTAGTAGCATAGTA 0.318000 50 177 0 0 1 0 0 TNK2 10188 broad.mit.edu 37 3 195605195 195605195 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:195605195G>A ENST00000333602.6 - 9 1802 c.1185C>T c.(1183-1185)gcC>gcT p.A395A TNK2_ENST00000392400.1_Silent_p.A395A|TNK2_ENST00000428187.1_Silent_p.A427A|TNK2_ENST00000316664.3_Silent_p.A395A|TNK2_ENST00000381916.2_Silent_p.A458A NM_005781.4 NP_005772.3 Q07912 ACK1_HUMAN tyrosine kinase, non-receptor, 2 395 SH3. Missing (in Ref. 4; AAH08884). positive regulation of peptidyl-tyrosine phosphorylation|protein ubiquitination|small GTPase mediated signal transduction adherens junction|cytoplasmic vesicle membrane|endosome|nucleus ATP binding|GTPase inhibitor activity|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|ovary(3)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1) 29 all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;0.000757) Adenosine triphosphate(DB00171) AGTCCTGAAGGGCCCGCATGT 0.617000 81 164 0 0 1 0 0 NRN1 51299 broad.mit.edu 37 6 6002595 6002595 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:6002595G>A ENST00000244766.2 - 2 408 c.191C>T c.(190-192)aCc>aTc p.T64I NRN1_ENST00000495850.1_5'UTR NM_016588.2 NP_057672.1 Q9NPD7 NRN1_HUMAN neuritin 1 64 anchored to membrane|plasma membrane endometrium(2)|large_intestine(2)|lung(4) 8 Ovarian(93;0.0816) all_hematologic(90;0.151) OV - Ovarian serous cystadenocarcinoma(45;0.00415) CGTGCACACGGTCTTGATGTT 0.617000 56 197 0 0 1 0 0 RCOR3 55758 broad.mit.edu 37 1 211486799 211486799 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:211486799C>T ENST00000367005.4 + 11 1318 c.1177C>T c.(1177-1179)Cca>Tca p.P393S RCOR3_ENST00000526255.1_3'UTR|RCOR3_ENST00000419091.2_Missense_Mutation_p.P451S|RCOR3_ENST00000367006.4_Missense_Mutation_p.S370F NM_018254.3 NP_060724.1 Q9P2K3 RCOR3_HUMAN REST corepressor 3 393 Pro-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 21 OV - Ovarian serous cystadenocarcinoma(81;0.00961)|all cancers(67;0.0999)|Epithelial(68;0.171) GACACTGGGTCCATCACCTCC 0.512000 80 89 0 0 1 0 0 RAP1GAP2 23108 broad.mit.edu 37 17 2898730 2898730 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:2898730G>A ENST00000254695.8 + 13 1104 c.1014G>A c.(1012-1014)aaG>aaA p.K338K RAP1GAP2_ENST00000542807.1_Silent_p.K338K|RAP1GAP2_ENST00000366401.4_Silent_p.K323K|RAP1GAP2_ENST00000540393.2_Silent_p.K319K NM_015085.4 NP_055900.4 Q684P5 RPGP2_HUMAN RAP1 GTPase activating protein 2 338 Rap-GAP. regulation of small GTPase mediated signal transduction centrosome|cytosol|perinuclear region of cytoplasm GTPase activator activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1) 11 TTTCCACAAAGCTGCCATTTA 0.602000 40 95 0 0 1 0 0 OR1L3 26735 broad.mit.edu 37 9 125438015 125438015 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:125438015G>A ENST00000304820.2 + 1 701 c.607G>A c.(607-609)Ggg>Agg p.G203R NM_001005234.1 NP_001005234.1 Q8NH93 OR1L3_HUMAN olfactory receptor, family 1, subfamily L, member 3 203 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|kidney(1)|large_intestine(2)|lung(6)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1) 16 CATGACAGAAGGGCTGGCCTC 0.428000 77 163 0 0 1 0 0 ZBTB21 49854 broad.mit.edu 37 21 43411105 43411105 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr21:43411105G>A ENST00000310826.5 - 3 3283 c.3100C>T c.(3100-3102)Ctt>Ttt p.L1034F ZBTB21_ENST00000398511.3_Missense_Mutation_p.L1034F|ZBTB21_ENST00000398499.1_Missense_Mutation_p.L1034F|ZBTB21_ENST00000398505.3_Missense_Mutation_p.L833F NM_001098402.1 NP_001091872.1 zinc finger and BTB domain containing 21 ATTGCTGAAAGGGGTGGGGCA 0.458000 41 83 0 0 1 0 0 SYPL2 284612 broad.mit.edu 37 1 110018301 110018301 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:110018301C>T ENST00000369872.3 + 3 444 c.228C>T c.(226-228)atC>atT p.I76I SYPL2_ENST00000475497.1_3'UTR|SYPL2_ENST00000401021.3_Silent_p.I76I NM_001040709.1 NP_001035799.1 Q5VXT5 SYPL2_HUMAN synaptophysin-like 2 76 MARVEL. integral to membrane|synaptic vesicle transporter activity breast(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 16 all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244) Colorectal(144;0.0129)|Lung(183;0.0436)|READ - Rectum adenocarcinoma(129;0.0698)|Epithelial(280;0.0808)|all cancers(265;0.0869)|LUSC - Lung squamous cell carcinoma(189;0.231) TGAGCTCCATCATCGTTGCAT 0.537000 32 49 0 0 1 0 0 OSBPL6 114880 broad.mit.edu 37 2 179193096 179193096 + Silent SNP C C A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:179193096C>A ENST00000190611.4 + 5 685 c.309C>A c.(307-309)ggC>ggA p.G103G OSBPL6_ENST00000409045.3_Silent_p.G103G|OSBPL6_ENST00000409631.1_Silent_p.G103G|OSBPL6_ENST00000315022.2_Silent_p.G82G|OSBPL6_ENST00000359685.3_Silent_p.G103G|OSBPL6_ENST00000357080.4_Silent_p.G103G|OSBPL6_ENST00000392505.2_Silent_p.G103G|OSBPL6_ENST00000477097.1_3'UTR NM_032523.3 NP_115912.1 Q9BZF3 OSBL6_HUMAN oxysterol binding protein-like 6 103 PH. lipid transport lipid binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(18)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 46 OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335) CTTTAAAAGGCTGGCACAAGG 0.378000 30 75 1.06801e-11 1.07532e-11 1 1 0 MIR519D 574480 broad.mit.edu 37 19 54216623 54216623 + RNA SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:54216623G>A ENST00000385246.1 + 0 23 NR_030202.1 ACCCTCCAAAGGGAAGCGCTT 0.433000 7 221 0 0 1 0 0 DNAH8 1769 broad.mit.edu 37 6 38790617 38790617 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:38790617C>T ENST00000359357.3 + 25 3130 c.2876C>T c.(2875-2877)tCt>tTt p.S959F DNAH8_ENST00000441566.1_Missense_Mutation_p.S959F|DNAH8_ENST00000449981.2_Missense_Mutation_p.S1176F dynein, axonemal, heavy chain 8 NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4) 260 TTTTCAGGATCTTTTGAAGAA 0.338000 7 44 0 0 1 0 0 PIK3C2G 5288 broad.mit.edu 37 12 18443868 18443868 + Nonsense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:18443868C>T ENST00000433979.1 + 4 957 c.841C>T c.(841-843)Cag>Tag p.Q281* RERGL_ENST00000541632.1_Intron|PIK3C2G_ENST00000536967.1_3'UTR|PIK3C2G_ENST00000535651.1_Nonsense_Mutation_p.Q281*|PIK3C2G_ENST00000538779.1_Nonsense_Mutation_p.Q281*|PIK3C2G_ENST00000266497.5_Nonsense_Mutation_p.Q281* NM_004570.4 NP_004561.3 O75747 P3C2G_HUMAN phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma 281 cell communication|phosphatidylinositol-mediated signaling membrane|phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1) 66 Hepatocellular(102;0.194) ATTTCCGTATCAGCTCTTTTC 0.333000 5 19 0 0 1 0 0 MROH8 140699 broad.mit.edu 37 20 35748101 35748101 + Splice_Site SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr20:35748101C>T ENST00000400441.3 - 18 2369 c.2370_splice c.e18+1 p.M790_splice MROH8_ENST00000217333.8_Splice_Site_p.M619_splice|MROH8_ENST00000441008.2_Splice_Site_p.M776_splice maestro heat-like repeat family member 8 CCCCTCCTACCATCTCCTGGT 0.428000 4 54 0 0 1 0 0 PAX8 7849 broad.mit.edu 37 2 114000282 114000282 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:114000282G>A ENST00000429538.3 - 5 657 c.463C>T c.(463-465)Ccc>Tcc p.P155S AC016683.6_ENST00000553869.2_RNA|AC016683.6_ENST00000445745.1_RNA|AC016683.6_ENST00000333145.5_RNA|PAX8_ENST00000397647.3_Missense_Mutation_p.P155S|PAX8_ENST00000348715.5_Missense_Mutation_p.P155S|PAX8_ENST00000263334.5_Missense_Mutation_p.P155S|PAX8_ENST00000263335.7_Missense_Mutation_p.P155S|AC016683.6_ENST00000556070.1_RNA|AC016683.6_ENST00000422956.1_RNA|AC016683.6_ENST00000436293.2_RNA|AC016683.6_ENST00000451179.1_RNA NM_003466.3 NP_003457.1 Q06710 PAX8_HUMAN paired box 8 155 branching involved in ureteric bud morphogenesis|cellular response to gonadotropin stimulus|central nervous system development|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesonephros development|metanephric collecting duct development|metanephric comma-shaped body morphogenesis|metanephric distal convoluted tubule development|metanephric nephron tubule formation|metanephric S-shaped body morphogenesis|negative regulation of mesenchymal stem cell apoptosis involved in metanephric nephron morphogenesis|otic vesicle development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of metanephric DCT cell differentiation|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|pronephric field specification|regulation of metanephric nephron tubule epithelial cell differentiation|regulation of thyroid-stimulating hormone secretion|thyroid gland development|transcription, DNA-dependent nucleoplasm protein binding|RNA polymerase II core promoter sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|thyroid-stimulating hormone receptor activity PAX8/PPARG(117) breast(1)|endometrium(4)|kidney(2)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|skin(1) 20 GTGTGTCCGGGACTCAGGGAC 0.532000 T PPARG follicular thyroid Thyroid dysgenesis 52 112 0 0 1 0 0 SMYD4 114826 broad.mit.edu 37 17 1684625 1684625 + Silent SNP G G A rs139157614 TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:1684625G>A ENST00000305513.7 - 11 2537 c.2370C>T c.(2368-2370)tcC>tcT p.S790S NM_052928.2 NP_443160.2 Q8IYR2 SMYD4_HUMAN SET and MYND domain containing 4 790 zinc ion binding p.S790S(1) breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(5)|stomach(1) 21 CCAACAAACAGGATTTCATCT 0.517000 51 61 0 0 1 0 0 ARHGEF40 55701 broad.mit.edu 37 14 21542779 21542779 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr14:21542779C>T ENST00000298694.4 + 3 1017 c.890C>T c.(889-891)cCt>cTt p.P297L ARHGEF40_ENST00000298693.3_Missense_Mutation_p.P297L Q8TER5 ARH40_HUMAN Rho guanine nucleotide exchange factor (GEF) 40 297 Gly-rich. regulation of Rho protein signal transduction cytoplasm Rho guanyl-nucleotide exchange factor activity large_intestine(4)|ovary(3)|upper_aerodigestive_tract(2) 9 GGCCTGGGGCCTCGGGGCCAG 0.726000 7 11 0 0 1 0 0 TBX21 30009 broad.mit.edu 37 17 45820437 45820437 + Splice_Site SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:45820437G>A ENST00000177694.1 + 3 858 c.646_splice c.e3-1 p.G216_splice NM_013351.1 NP_037483.1 Q9UL17 TBX21_HUMAN T-box 21 216 lymphocyte migration|multicellular organismal development|positive regulation of transcription, DNA-dependent|response to virus nucleus sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding NS(1)|endometrium(1)|large_intestine(3)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 22 CTGTCCACAGGAAACCGCCTG 0.572000 10 155 0 0 1 0 0 ERN2 10595 broad.mit.edu 37 16 23722238 23722238 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr16:23722238C>T ENST00000256797.4 - 2 507 c.339G>A c.(337-339)agG>agA p.R113R ERN2_ENST00000457008.2_Silent_p.R65R NM_033266.3 NP_150296.3 Q76MJ5 ERN2_HUMAN endoplasmic reticulum to nucleus signaling 2 65 apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent endoplasmic reticulum membrane|integral to membrane ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity large_intestine(2)|lung(2)|ovary(2) 6 GBM - Glioblastoma multiforme(48;0.0156) GCTCACCATCCCTCAGAGTCC 0.532000 38 68 0 0 1 0 0 ATP2C1 27032 broad.mit.edu 37 3 130683792 130683792 + Splice_Site SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:130683792G>A ENST00000510168.1 + 14 1575 c.1024_splice c.e14-1 p.G342_splice ATP2C1_ENST00000422190.2_Splice_Site_p.G342_splice|ATP2C1_ENST00000513801.1_Splice_Site_p.G326_splice|ATP2C1_ENST00000507488.2_Splice_Site_p.G326_splice|ATP2C1_ENST00000533801.2_Splice_Site_p.G337_splice|ATP2C1_ENST00000508532.1_Splice_Site_p.G342_splice|ATP2C1_ENST00000504948.1_Splice_Site_p.G326_splice|ATP2C1_ENST00000505330.1_Splice_Site_p.G326_splice|ATP2C1_ENST00000428331.2_Splice_Site_p.G342_splice|ATP2C1_ENST00000504381.1_Splice_Site_p.G287_splice|ATP2C1_ENST00000328560.8_Splice_Site_p.G342_splice|ATP2C1_ENST00000393221.4_Splice_Site_p.G376_splice|ATP2C1_ENST00000359644.3_Splice_Site_p.G342_splice P98194 AT2C1_HUMAN ATPase, Ca++ transporting, type 2C, member 1 342 actin cytoskeleton reorganization|ATP biosynthetic process|calcium-dependent cell-cell adhesion|cellular calcium ion homeostasis|cellular manganese ion homeostasis|epidermis development|Golgi calcium ion homeostasis|Golgi calcium ion transport|positive regulation of I-kappaB kinase/NF-kappaB cascade Golgi apparatus|Golgi membrane|integral to membrane|trans-Golgi network ATP binding|calcium ion binding|calcium-transporting ATPase activity|manganese ion binding|manganese-transporting ATPase activity|metal ion binding|signal transducer activity breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|prostate(2)|skin(2)|urinary_tract(1) 39 Arsenic trioxide(DB01169)|Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Miconazole(DB01110)|Sevoflurane(DB01236) AATTCTTTAGGCTGCTGTAAT 0.348000 Hailey-Hailey disease 23 45 0 0 1 0 0 ALDH1B1 219 broad.mit.edu 37 9 38396306 38396306 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:38396306C>T ENST00000377698.3 + 2 714 c.561C>T c.(559-561)ttC>ttT p.F187F NM_000692.4 NP_000683.3 P30837 AL1B1_HUMAN aldehyde dehydrogenase 1 family, member B1 187 carbohydrate metabolic process mitochondrial matrix|nucleus aldehyde dehydrogenase (NAD) activity NS(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(2)|urinary_tract(2) 32 GBM - Glioblastoma multiforme(29;0.043)|Lung(182;0.115) NADH(DB00157) CGTGGAACTTCCCCTTGGTCA 0.582000 57 146 0 0 1 0 0 NCL 4691 broad.mit.edu 37 2 232321806 232321806 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:232321806G>A ENST00000322723.4 - 10 1717 c.1477C>T c.(1477-1479)Ctc>Ttc p.L493F NM_005381.2 NP_005372.2 P19338 NUCL_HUMAN nucleolin 493 RRM 3. angiogenesis cell cortex|nucleolus|ribonucleoprotein complex nucleotide binding|protein C-terminus binding|RNA binding|telomeric DNA binding breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(3) 35 Ovarian(221;1.34e-05)|Renal(207;0.0112)|Lung NSC(271;0.0339)|all_lung(227;0.0616)|all_hematologic(139;0.0748)|Hepatocellular(293;0.137)|Acute lymphoblastic leukemia(138;0.167) Epithelial(121;1.65e-111)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014)|COAD - Colon adenocarcinoma(134;0.141)|STAD - Stomach adenocarcinoma(1183;0.18) CTGTAGGAGAGGTTGCTTAAA 0.398000 27 80 0 0 1 0 0 NLRP11 204801 broad.mit.edu 37 19 56307504 56307504 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:56307504C>T ENST00000443188.1 - 8 2994 c.2284G>A c.(2284-2286)Ggg>Agg p.G762R NLRP11_ENST00000592953.1_Missense_Mutation_p.G663R|NLRP11_ENST00000589824.2_Missense_Mutation_p.G708R|NLRP11_ENST00000589093.1_Missense_Mutation_p.G762R|NLRP11_ENST00000360133.3_Missense_Mutation_p.G708R NM_145007.3 NP_659444.2 P59045 NAL11_HUMAN NLR family, pyrin domain containing 11 762 ATP binding p.G762W(1) NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3) 66 Colorectal(82;0.0002) GBM - Glioblastoma multiforme(193;0.0325) ATGTTCATCCCGTCGCTCCTC 0.502000 115 210 0 0 1 0 0 KLB 152831 broad.mit.edu 37 4 39408987 39408987 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:39408987G>A ENST00000257408.4 + 1 515 c.418G>A c.(418-420)Gcc>Acc p.A140T NM_175737.3 NP_783864.1 Q86Z14 KLOTB_HUMAN klotho beta 140 Glycosyl hydrolase-1 1. carbohydrate metabolic process integral to membrane|plasma membrane cation binding|fibroblast growth factor binding|hydrolase activity, hydrolyzing O-glycosyl compounds NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|skin(6) 29 AGACTTATCAGCCCTGGATTT 0.393000 69 163 0 0 1 0 0 A4GALT 53947 broad.mit.edu 37 22 43089398 43089398 + Missense_Mutation SNP C C T rs28940572 TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr22:43089398C>T ENST00000401850.1 - 2 1049 c.560G>A c.(559-561)gGc>gAc p.G187D A4GALT_ENST00000249005.2_Missense_Mutation_p.G187D|A4GALT_ENST00000381278.3_Missense_Mutation_p.G187D Q9NPC4 A4GAT_HUMAN alpha 1,4-galactosyltransferase 187 G -> D (in p individuals; partial loss of activity; dbSNP:rs28940572). glycosphingolipid biosynthetic process|plasma membrane organization Golgi stack|integral to Golgi membrane|membrane fraction lactosylceramide 4-alpha-galactosyltransferase activity NS(1)|central_nervous_system(2)|large_intestine(6)|skin(1)|urinary_tract(1) 11 GTAGATGCCGCCGAACTTCCA 0.652000 45 63 0 0 1 0 0 NLRP9 338321 broad.mit.edu 37 19 56243531 56243531 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:56243531C>T ENST00000332836.2 - 2 1693 c.1666G>A c.(1666-1668)Gaa>Aaa p.E556K NM_176820.2 NP_789790.2 Q7RTR0 NALP9_HUMAN NLR family, pyrin domain containing 9 556 cytoplasm ATP binding NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3) 74 Colorectal(82;0.000133)|Ovarian(87;0.133) GBM - Glioblastoma multiforme(193;0.123) GTTACAAATTCTTTTTCCTGA 0.338000 20 61 0 0 1 0 0 CCDC36 339834 broad.mit.edu 37 3 49294221 49294221 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:49294221G>A ENST00000438782.1 + 8 1527 c.1291G>A c.(1291-1293)Gat>Aat p.D431N CCDC36_ENST00000296449.5_Missense_Mutation_p.D431N|CCDC36_ENST00000452691.2_Missense_Mutation_p.D431N Q8IYA8 CCD36_HUMAN coiled-coil domain containing 36 431 endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|ovary(1)|urinary_tract(3) 14 BRCA - Breast invasive adenocarcinoma(193;9.11e-05)|Kidney(197;0.00248)|KIRC - Kidney renal clear cell carcinoma(197;0.00262) TAAACAGAAAGATGGGACTGT 0.458000 69 119 0 0 1 0 0 ALAS2 212 broad.mit.edu 37 X 55054291 55054291 + Splice_Site SNP C C A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chrX:55054291C>A ENST00000396198.3 - 2 36 c.e2-1 ALAS2_ENST00000335854.4_Intron|ALAS2_ENST00000330807.5_Intron NM_001037968.3 NP_001033057.1 P22557 HEM0_HUMAN aminolevulinate, delta-, synthase 2 cellular iron ion homeostasis|erythrocyte differentiation|heme biosynthetic process|hemoglobin biosynthetic process|oxygen homeostasis|response to hypoxia mitochondrial inner membrane|mitochondrial matrix 5-aminolevulinate synthase activity|coenzyme binding|glycine binding|protein binding|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(2)|skin(1) 17 Glycine(DB00145) CATGTGGGCCCTGAAATTGGA 0.453000 14 17 2.61681e-11 2.63403e-11 1 1 0 GLT1D1 144423 broad.mit.edu 37 12 129429892 129429892 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:129429892G>A ENST00000442111.2 + 9 725 c.637G>A c.(637-639)Gaa>Aaa p.E213K GLT1D1_ENST00000542193.1_Missense_Mutation_p.E130K|GLT1D1_ENST00000537468.1_Missense_Mutation_p.E218K|GLT1D1_ENST00000281703.6_Missense_Mutation_p.E133K Q96MS3 GL1D1_HUMAN glycosyltransferase 1 domain containing 1 213 biosynthetic process extracellular region transferase activity, transferring glycosyl groups breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1) 26 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;3.97e-06)|Epithelial(86;3.97e-05)|all cancers(50;0.00019) GTTTACAAGGGAAGTGAAAGC 0.532000 24 56 0 0 1 0 0 FAHD2B 151313 broad.mit.edu 37 2 97751879 97751879 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:97751879G>A ENST00000414820.1 - 5 789 c.519C>T c.(517-519)atC>atT p.I173I FAHD2B_ENST00000440566.2_Silent_p.I173I|FAHD2B_ENST00000272610.3_Silent_p.I173I Q6P2I3 FAH2B_HUMAN fumarylacetoacetate hydrolase domain containing 2B 173 hydrolase activity|metal ion binding kidney(5)|large_intestine(2)|lung(3)|skin(2) 12 ACCTCACCTTGATGTGCTTGC 0.602000 12 24 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9087201 9087201 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:9087201G>A ENST00000397910.4 - 1 4817 c.4614C>T c.(4612-4614)acC>acT p.T1538T NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 1538 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 TTGTCAGTGGGGTGATAGGAA 0.478000 84 175 0 0 1 0 0 EP400 57634 broad.mit.edu 37 12 132446046 132446046 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:132446046C>T ENST00000333577.4 + 2 991 c.882C>T c.(880-882)ttC>ttT p.F294F EP400_ENST00000389562.2_Silent_p.F294F|EP400_ENST00000389561.2_Silent_p.F294F|EP400_ENST00000330386.6_Silent_p.F294F|EP400_ENST00000332482.4_Silent_p.F294F Q96L91 EP400_HUMAN E1A binding protein p400 294 histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 161 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.198) OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06) CCCTGGGCTTCGAGAGGACAC 0.721000 5 14 0 0 1 0 0 IDO1 3620 broad.mit.edu 37 8 39785653 39785653 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:39785653C>T ENST00000518237.1 + 10 1800 c.1161C>T c.(1159-1161)ttC>ttT p.F387F RP11-44K6.3_ENST00000517623.1_RNA|IDO1_ENST00000522495.1_Silent_p.F387F NM_002164.5 NP_002155.1 P14902 I23O1_HUMAN indoleamine 2,3-dioxygenase 1 387 female pregnancy|tryptophan catabolic process cytosol electron carrier activity|heme binding|indoleamine 2,3-dioxygenase activity|tryptophan 2,3-dioxygenase activity central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(2) 12 L-Tryptophan(DB00150) TAATGAATTTCCTGAAGACTG 0.418000 15 18 0 0 1 0 0 DPF3 8110 broad.mit.edu 37 14 73159825 73159825 + Missense_Mutation SNP T T C TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr14:73159825T>C ENST00000541685.1 - 7 713 c.701A>G c.(700-702)gAg>gGg p.E234G DPF3_ENST00000556509.1_Missense_Mutation_p.E234G|DPF3_ENST00000546183.1_Missense_Mutation_p.E244G|DPF3_ENST00000557704.1_5'UTR NM_012074.3 NP_036206.3 Q92784 DPF3_HUMAN D4, zinc and double PHD fingers, family 3 234 chromatin modification|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nBAF complex nucleic acid binding|zinc ion binding central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1) 22 BRCA - Breast invasive adenocarcinoma(234;0.00649)|OV - Ovarian serous cystadenocarcinoma(108;0.0654) GGACCGAGTCTCCTGGTCTTG 0.582000 6 200 0 0 1 0 0 OR5K1 26339 broad.mit.edu 37 3 98188928 98188928 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:98188928G>A ENST00000332650.5 + 1 605 c.508G>A c.(508-510)Gga>Aga p.G170R NM_001004736.2 NP_001004736.2 Q8NHB7 OR5K1_HUMAN olfactory receptor, family 5, subfamily K, member 1 170 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(1)|large_intestine(4)|lung(21)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 AGTTTTCTGTGGATCGAATCA 0.403000 119 197 0 0 1 0 0 XIRP2 129446 broad.mit.edu 37 2 168104984 168104984 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:168104984C>T ENST00000409195.1 + 9 7171 c.7082C>T c.(7081-7083)tCg>tTg p.S2361L XIRP2_ENST00000295237.9_Missense_Mutation_p.S2361L|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.S2139L NM_152381.5 NP_689594.4 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 2186 actin cytoskeleton organization cell junction actin binding NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7) 315 GAAAGTTCATCGATGTTTCTG 0.483000 16 172 0 0 1 0 0 EIF4G1 1981 broad.mit.edu 37 3 184035205 184035205 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:184035205C>T ENST00000342981.4 + 4 658 c.244C>T c.(244-246)Cct>Tct p.P82S EIF4G1_ENST00000352767.3_Missense_Mutation_p.P89S|EIF4G1_ENST00000350481.5_Intron|EIF4G1_ENST00000427845.1_5'UTR|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000392537.2_5'UTR|EIF4G1_ENST00000346169.2_Missense_Mutation_p.P82S|EIF4G1_ENST00000414031.1_Missense_Mutation_p.P42S|EIF4G1_ENST00000411531.1_Missense_Mutation_p.P42S|EIF4G1_ENST00000319274.6_Missense_Mutation_p.P82S|EIF4G1_ENST00000382330.3_Missense_Mutation_p.P89S|EIF4G1_ENST00000424196.1_Missense_Mutation_p.P89S NM_182917.4 NP_886553.3 Q04637 IF4G1_HUMAN eukaryotic translation initiation factor 4 gamma, 1 82 insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation cytosol|eukaryotic translation initiation factor 4F complex protein binding|translation initiation factor activity central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 75 all_cancers(143;1.06e-10)|Ovarian(172;0.0339) Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) CCATGTCTACCCTGCTGGATC 0.652000 62 146 0 0 1 0 0 DDX31 64794 broad.mit.edu 37 9 135545422 135545422 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:135545422C>T ENST00000372159.3 - 1 366 c.215G>A c.(214-216)aGg>aAg p.R72K DDX31_ENST00000372153.1_Missense_Mutation_p.R72K|DDX31_ENST00000480876.1_5'UTR|GTF3C4_ENST00000372146.4_5'UTR|DDX31_ENST00000310532.2_Missense_Mutation_p.R72K|GTF3C4_ENST00000483873.2_5'UTR NM_022779.7 NP_073616.6 Q9H8H2 DDX31_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 31 72 nucleolus ATP binding|ATP-dependent helicase activity|RNA binding breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(1) 27 OV - Ovarian serous cystadenocarcinoma(145;2.67e-06)|Epithelial(140;7.61e-05) GCCACCGCCCCTTCCGGGTCC 0.756000 10 6 0 0 1 0 0 FMN2 56776 broad.mit.edu 37 1 240370335 240370335 + Silent SNP G G A rs144753167 TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:240370335G>A ENST00000319653.9 + 5 2453 c.2223G>A c.(2221-2223)gcG>gcA p.A741A NM_020066.4 NP_064450.3 Q9NZ56 FMN2_HUMAN formin 2 741 actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions actin binding NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2) 178 Ovarian(103;0.127) all_cancers(173;0.013) OV - Ovarian serous cystadenocarcinoma(106;0.0106) TTTTAGAGGCGAAATCGATAC 0.562000 23 61 0 0 1 0 0 MID2 11043 broad.mit.edu 37 X 107160930 107160930 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chrX:107160930G>A ENST00000262843.6 + 7 1944 c.1396G>A c.(1396-1398)Gaa>Aaa p.E466K RP6-191P20.4_ENST00000430140.1_RNA|MID2_ENST00000443968.2_Intron NM_012216.3|NM_052817.2 NP_036348.2|NP_438112.2 Q9UJV3 TRIM1_HUMAN midline 2 466 Fibronectin type-III. centrosome|microtubule ligase activity|zinc ion binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(2) 19 GAAATGTAAGGAAGCAGTAAG 0.468000 88 30 0 0 1 0 0 N4BP2 55728 broad.mit.edu 37 4 40104497 40104497 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:40104497C>T ENST00000261435.6 + 4 1448 c.1032C>T c.(1030-1032)tgC>tgT p.C344C NM_018177.4 NP_060647.2 Q86UW6 N4BP2_HUMAN NEDD4 binding protein 2 344 Pro-rich. cytoplasm ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1) 60 TGAGTTACTGCCCGGTACTTG 0.512000 30 74 0 0 1 0 0 C7orf63 79846 broad.mit.edu 37 7 89927093 89927093 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:89927093G>A ENST00000389297.4 + 16 2057 c.1806G>A c.(1804-1806)gaG>gaA p.E602E C7orf63_ENST00000316089.8_Silent_p.E602E|C7orf63_ENST00000497910.1_Silent_p.E584E NM_001039706.2|NM_001160138.1 NP_001034795.2|NP_001153610.1 A5D8W1 CG063_HUMAN chromosome 7 open reading frame 63 602 binding p.E602D(1) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|prostate(3) 37 ATCCCTCAGAGGATTATTTTC 0.289000 61 229 0 0 1 0 0 SOGA1 140710 broad.mit.edu 37 20 35437003 35437003 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr20:35437003G>A ENST00000237536.4 - 8 3068 c.2727C>T c.(2725-2727)ttC>ttT p.F909F SOGA1_ENST00000357779.3_Silent_p.F671F|SOGA1_ENST00000279034.5_Silent_p.F671F|SOGA1_ENST00000456801.2_Silent_p.F512F NM_080627.2 NP_542194.2 O94964 K0889_HUMAN suppressor of glucose, autophagy associated 1 671 endometrium(5)|kidney(1)|lung(21)|urinary_tract(1) 28 AGAGCAGCAGGAAGTTGTGCT 0.572000 OREG0025909 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 12 26 0 0 1 0 0 OR6Y1 391112 broad.mit.edu 37 1 158517123 158517123 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:158517123G>A ENST00000302617.3 - 1 772 c.773C>T c.(772-774)tCc>tTc p.S258F NM_001005189.1 NP_001005189.1 Q8NGX8 OR6Y1_HUMAN olfactory receptor, family 6, subfamily Y, member 1 258 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 30 all_hematologic(112;0.0378) AAGTGTCATGGAATAGAAGAG 0.498000 40 178 0 0 1 0 0 ZNF226 7769 broad.mit.edu 37 19 44681054 44681054 + Nonsense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:44681054C>T ENST00000590089.1 + 7 2006 c.1639C>T c.(1639-1641)Caa>Taa p.Q547* ZNF226_ENST00000337433.5_Nonsense_Mutation_p.Q547*|ZNF226_ENST00000588883.1_3'UTR|ZNF226_ENST00000454662.2_Nonsense_Mutation_p.Q547* Q9NYT6 ZN226_HUMAN zinc finger protein 226 547 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding Prostate(69;0.0352)|all_neural(266;0.202) TTCGTATCTTCAAATCCATCA 0.443000 66 164 0 0 1 0 0 SELL 6402 broad.mit.edu 37 1 169677687 169677687 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:169677687C>T ENST00000236147.4 - 3 542 c.382G>A c.(382-384)Gga>Aga p.G128R SELL_ENST00000463108.1_5'UTR|C1orf112_ENST00000498289.1_Intron NM_000655.4 NP_000646.2 P14151 LYAM1_HUMAN selectin L 115 C-type lectin. blood coagulation|cell adhesion|leukocyte migration|regulation of immune response integral to plasma membrane glycosphingolipid binding|heparin binding|protease binding|sugar binding NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(3)|lung(5)|urinary_tract(1) 15 all_hematologic(923;0.208) TCACCATCTCCCCAGTTCTCT 0.468000 23 67 0 0 1 0 0 IL27RA 9466 broad.mit.edu 37 19 14159841 14159841 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:14159841C>T ENST00000263379.2 + 9 1315 c.1190C>T c.(1189-1191)tCt>tTt p.S397F NM_004843.3 NP_004834.1 Q6UWB1 I27RA_HUMAN interleukin 27 receptor, alpha 397 Fibronectin type-III 2. cell surface receptor linked signaling pathway|immune response integral to plasma membrane transmembrane receptor activity breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(1) 26 ACCGCAGTCTCTGCTTCAGGC 0.552000 OREG0025303 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 167 0 0 1 0 0 TNFSF14 8740 broad.mit.edu 37 19 6664996 6664996 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:6664996C>T ENST00000326176.9 - 5 937 c.556G>A c.(556-558)Gaa>Aaa p.E186K TNFSF14_ENST00000599359.1_Missense_Mutation_p.E222K|TNFSF14_ENST00000245912.3_Missense_Mutation_p.E186K NM_003807.3|NM_172014.2 NP_003798.2|NP_742011.2 O43557 TNF14_HUMAN tumor necrosis factor (ligand) superfamily, member 14 222 cellular response to mechanical stimulus|immune response|induction of apoptosis|release of cytoplasmic sequestered NF-kappaB|T cell homeostasis|T cell proliferation cytoplasm|extracellular space|integral to membrane|plasma membrane caspase inhibitor activity|cytokine activity|tumor necrosis factor receptor binding breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 18 ACCAGGCGTTCATCCAGCACA 0.617000 75 137 0 0 1 0 0 DNAH9 1770 broad.mit.edu 37 17 11786953 11786953 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:11786953G>A ENST00000262442.3 + 56 10925 c.10857G>A c.(10855-10857)ttG>ttA p.L3619L DNAH9_ENST00000396001.2_5'UTR|DNAH9_ENST00000454412.2_Silent_p.L3619L NM_001372.3 NP_001363.2 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 3619 AAA 5 (By similarity). cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4) 290 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) TGAAAACGTTGGAAGACAGTC 0.512000 43 76 0 0 1 0 0 ABCA13 154664 broad.mit.edu 37 7 48626879 48626879 + Missense_Mutation SNP T T A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:48626879T>A ENST00000435803.1 + 57 14659 c.14635T>A c.(14635-14637)Tta>Ata p.L4879I ABCA13_ENST00000544596.1_Missense_Mutation_p.L609I NM_152701.3 NP_689914.2 Q86UQ4 ABCAD_HUMAN ATP-binding cassette, sub-family A (ABC1), member 13 4879 ABC transporter 2. transport integral to membrane ATP binding|ATPase activity breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4) 270 TGACATTCTTTTATTGGTGAG 0.448000 4 11 0 0 1 0 0 RALGPS1 9649 broad.mit.edu 37 9 129724579 129724579 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:129724579G>A ENST00000259351.5 + 2 278 c.11G>A c.(10-12)aGg>aAg p.R4K RALGPS1_ENST00000394011.3_Missense_Mutation_p.R4K|RALGPS1_ENST00000424082.2_Missense_Mutation_p.R4K|RALGPS1_ENST00000394022.3_Missense_Mutation_p.R4K|RALGPS1_ENST00000373436.1_Missense_Mutation_p.R4K|RALGPS1_ENST00000373434.1_Missense_Mutation_p.R4K|RALGPS1_ENST00000480993.1_3'UTR NM_014636.2 NP_055451.1 Q5JS13 RGPS1_HUMAN Ral GEF with PH domain and SH3 binding motif 1 4 small GTPase mediated signal transduction cytoplasm|plasma membrane guanyl-nucleotide exchange factor activity kidney(2)|large_intestine(6)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 19 ATGTACAAGAGGAATGGTCTG 0.537000 25 45 0 0 1 0 0 ARMC4 55130 broad.mit.edu 37 10 28283875 28283875 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:28283875G>A ENST00000305242.5 - 2 289 c.197C>T c.(196-198)tCa>tTa p.S66L NM_018076.2 NP_060546.2 Q5T2S8 ARMC4_HUMAN armadillo repeat containing 4 66 binding NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3) 75 TTCAAATGCTGAGGGCGCCAA 0.368000 24 48 0 0 1 0 0 MISP 126353 broad.mit.edu 37 19 757972 757972 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:757972G>A ENST00000215582.6 + 2 1129 c.1026G>A c.(1024-1026)cgG>cgA p.R342R NM_173481.2 NP_775752.1 mitotic spindle positioning CCCCACGGCGGGAGAGAGGGC 0.682000 21 27 0 0 1 0 0 WNT3 7473 broad.mit.edu 37 17 44851212 44851212 + Silent SNP G G T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:44851212G>T ENST00000225512.5 - 2 306 c.144C>A c.(142-144)atC>atA p.I48I NM_030753.4 NP_110380.1 P56703 WNT3_HUMAN wingless-type MMTV integration site family, member 3 48 canonical Wnt receptor signaling pathway involved in mesenchymal stem cell differentiation|canonical Wnt receptor signaling pathway involved in osteoblast differentiation|cellular response to retinoic acid|dorsal/ventral axis specification|embryonic forelimb morphogenesis|embryonic hindlimb morphogenesis|embryonic pattern specification|head morphogenesis|hemopoietic stem cell proliferation|inner ear morphogenesis|limb bud formation|mammary gland epithelium development|mesoderm formation|midbrain-hindbrain boundary development|negative regulation of fat cell differentiation|positive regulation of cell proliferation|Spemann organizer formation at the anterior end of the primitive streak|Wnt receptor signaling pathway, calcium modulating pathway early endosome|extracellular space|late endosome|membrane fraction|membrane raft|plasma membrane|proteinaceous extracellular matrix frizzled binding|frizzled-2 binding|signal transducer activity endometrium(2)|large_intestine(6)|lung(4)|prostate(1) 13 BRCA - Breast invasive adenocarcinoma(9;0.0257) CCAGGCCTGGGATGGAGCCGC 0.637000 12 38 1.61879e-10 1.62875e-10 1 1 0 HCAR1 27198 broad.mit.edu 37 12 123214860 123214860 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:123214860G>A ENST00000432564.1 - 1 269 c.27C>T c.(25-27)atC>atT p.I9I HCAR1_ENST00000436083.2_Silent_p.I9I|HCAR1_ENST00000356987.2_Silent_p.I9I NM_032554.3 NP_115943.1 Q9BXC0 HCAR1_HUMAN hydroxycarboxylic acid receptor 1 9 response to estradiol stimulus integral to membrane|plasma membrane G-protein coupled receptor activity NS(1)|breast(3)|endometrium(1)|kidney(1)|lung(1)|ovary(1)|pancreas(1)|skin(1) 10 TGTCCCCCTCGATGCGGCAGC 0.622000 15 33 0 0 1 0 0 PKP2 5318 broad.mit.edu 37 12 33031904 33031904 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:33031904C>T ENST00000340811.4 - 2 394 c.286G>A c.(286-288)Gat>Aat p.D96N PKP2_ENST00000070846.6_Missense_Mutation_p.D96N NM_001005242.2 NP_001005242.2 Q99959 PKP2_HUMAN plakophilin 2 96 cell-cell adhesion desmosome|integral to membrane|nucleus binding NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1) 50 Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239) CCAACAAAATCATTTTCAACC 0.378000 33 124 0 0 1 0 0 ZNF835 90485 broad.mit.edu 37 19 57176520 57176520 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:57176520C>T ENST00000537055.2 - 2 278 c.47G>A c.(46-48)gGa>gAa p.G16E NM_001005850.2 NP_001005850.2 zinc finger protein 835 endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3) 47 TTTCCAGTTTCCTTCCAACTC 0.587000 41 61 0 0 1 0 0 NLRP3 114548 broad.mit.edu 37 1 247588578 247588578 + Missense_Mutation SNP G G C TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:247588578G>C ENST00000366497.2 + 4 2613 c.1833G>C c.(1831-1833)tgG>tgC p.W611C NLRP3_ENST00000391827.2_Missense_Mutation_p.W611C|NLRP3_ENST00000366496.2_Missense_Mutation_p.W611C|NLRP3_ENST00000336119.3_Missense_Mutation_p.W611C|NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000348069.2_Missense_Mutation_p.W611C|NLRP3_ENST00000391828.3_Missense_Mutation_p.W611C NM_001127461.2 NP_001120933.1 Q96P20 NALP3_HUMAN NLR family, pyrin domain containing 3 611 detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction cytoplasm ATP binding|peptidoglycan binding|protein binding NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 142 all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.0172) OV - Ovarian serous cystadenocarcinoma(106;0.0141) TGCTGAAATGGATTGAAGTGA 0.473000 4 116 0 0 1 0 0 PHLDB2 90102 broad.mit.edu 37 3 111603874 111603874 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:111603874C>T ENST00000431670.2 + 2 1361 c.950C>T c.(949-951)tCt>tTt p.S317F PHLDB2_ENST00000393923.3_Missense_Mutation_p.S344F|PHLDB2_ENST00000393925.3_Missense_Mutation_p.S317F|PHLDB2_ENST00000412622.1_Missense_Mutation_p.S317F|PHLDB2_ENST00000478922.1_Missense_Mutation_p.S317F|PHLDB2_ENST00000481953.1_Missense_Mutation_p.S317F|PHLDB2_ENST00000477695.1_Missense_Mutation_p.S317F NM_001134438.1 NP_001127910.1 Q86SQ0 PHLB2_HUMAN pleckstrin homology-like domain, family B, member 2 317 cytoplasm|intermediate filament cytoskeleton|plasma membrane breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1) 55 TATAAAACCTCTGCTTCTGAA 0.468000 37 53 0 0 1 0 0 FOXR1 283150 broad.mit.edu 37 11 118849804 118849804 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:118849804G>A ENST00000317011.3 + 3 499 c.274G>A c.(274-276)Gag>Aag p.E92K NM_181721.2 NP_859072.1 Q6PIV2 FOXR1_HUMAN forkhead box R1 92 embryo development|organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1) 16 all_hematologic(175;0.0839) Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.62e-05) ACCCCAGAAGGAGGAAGATGC 0.607000 60 82 0 0 1 0 0 ABCC3 8714 broad.mit.edu 37 17 48753920 48753920 + Missense_Mutation SNP C C T rs140501798 TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:48753920C>T ENST00000285238.8 + 23 3429 c.3349C>T c.(3349-3351)Ccc>Tcc p.P1117S NM_003786.3 NP_003777.2 O15438 MRP3_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 3 1117 ABC transmembrane type-1 2. bile acid metabolic process integral to plasma membrane|membrane fraction ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 33 BRCA - Breast invasive adenocarcinoma(22;3.05e-09) Glibenclamide(DB01016) GGTCATCCTGCCCCTGGCTGT 0.607000 43 93 0 0 1 0 0 FHDC1 85462 broad.mit.edu 37 4 153896132 153896132 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:153896132G>A ENST00000511601.1 + 12 1877 c.1689G>A c.(1687-1689)gaG>gaA p.E563E FHDC1_ENST00000260008.3_Silent_p.E563E Q9C0D6 FHDC1_HUMAN FH2 domain containing 1 563 actin cytoskeleton organization actin binding ARFIP1/FHDC1(2) NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 43 all_hematologic(180;0.093) GCAGCCCTGAGGAGCCCAATA 0.697000 28 55 0 0 1 0 0 CYP11B2 1585 broad.mit.edu 37 8 143996618 143996618 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:143996618C>T ENST00000323110.2 - 3 441 c.439G>A c.(439-441)Gat>Aat p.D147N NM_000498.3 NP_000489.3 P19099 C11B2_HUMAN cytochrome P450, family 11, subfamily B, polypeptide 2 147 aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|potassium ion homeostasis|regulation of blood volume by renal aldosterone|sodium ion homeostasis|xenobiotic metabolic process corticosterone 18-monooxygenase activity|electron carrier activity|steroid 11-beta-monooxygenase activity cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(22)|ovary(3)|upper_aerodigestive_tract(3) 39 all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155) Candesartan(DB00796)|Metyrapone(DB01011) GACAGCACATCTGGGTTCAGC 0.627000 Familial Hyperaldosteronism type I 5 58 0 0 1 0 0 SNED1 25992 broad.mit.edu 37 2 241969901 241969901 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:241969901C>T ENST00000310397.8 + 2 414 c.414C>T c.(412-414)ttC>ttT p.F138F SNED1_ENST00000342631.6_Silent_p.F138F|SNED1_ENST00000401884.1_Silent_p.F138F|SNED1_ENST00000405547.3_Silent_p.F138F|AC005237.4_ENST00000458377.1_RNA NM_001080437.1 NP_001073906.1 Q8TER0 SNED1_HUMAN sushi, nidogen and EGF-like domains 1 138 NIDO. cell-matrix adhesion extracellular region calcium ion binding NS(1)|breast(1)|central_nervous_system(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1) 24 all_cancers(19;7.48e-31)|all_epithelial(40;1.35e-12)|Breast(86;0.000148)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238) Epithelial(32;6.46e-32)|all cancers(36;6.23e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.1e-14)|Kidney(56;6.35e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.98e-08)|BRCA - Breast invasive adenocarcinoma(100;3.66e-06)|Lung(119;0.00072)|LUSC - Lung squamous cell carcinoma(224;0.00553)|Colorectal(34;0.0162)|COAD - Colon adenocarcinoma(134;0.109) GGCACTACTTCCCCGAGCTCC 0.622000 14 29 0 0 1 0 0 BCL11B 64919 broad.mit.edu 37 14 99641404 99641404 + Missense_Mutation SNP T T C TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr14:99641404T>C ENST00000345514.2 - 3 1822 c.1556A>G c.(1555-1557)gAg>gGg p.E519G BCL11B_ENST00000443726.2_Missense_Mutation_p.E396G|BCL11B_ENST00000357195.3_Missense_Mutation_p.E590G NM_022898.1 NP_075049.1 Q9C0K0 BC11B_HUMAN B-cell CLL/lymphoma 11B (zinc finger protein) 590 nucleus zinc ion binding NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2) 34 Melanoma(154;0.0866)|all_epithelial(191;0.241) COAD - Colon adenocarcinoma(157;0.103) CAGCGCCTTCTCGTCAGCCAG 0.726000 T TLX3 T-ALL 13 61 0 0 1 0 0 DPYSL2 1808 broad.mit.edu 37 8 26441360 26441360 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:26441360C>T ENST00000311151.5 + 3 586 c.174C>T c.(172-174)atC>atT p.I58I DPYSL2_ENST00000523027.1_Silent_p.I22I|DPYSL2_ENST00000521913.1_Silent_p.I22I NM_001386.5 NP_001377.1 Q16555 DPYL2_HUMAN dihydropyrimidinase-like 2 58 axon guidance|pyrimidine base catabolic process|signal transduction cytosol dihydropyrimidinase activity|protein binding breast(1)|endometrium(5)|large_intestine(8)|lung(3)|prostate(1)|skin(1)|stomach(1) 20 all_cancers(63;0.121)|Ovarian(32;2.68e-05)|all_epithelial(46;0.116) UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;3.33e-10)|Colorectal(74;0.183) TGAAGACCATCGAGGCCCACT 0.483000 36 76 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 8994500 8994500 + Missense_Mutation SNP T T C TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:8994500T>C ENST00000397910.4 - 64 41595 c.41392A>G c.(41392-41394)Acc>Gcc p.T13798A MUC16_ENST00000380951.5_Missense_Mutation_p.T439A NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 13800 SEA 12. Missing (in Ref. 3; AAK74120). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 TTAGTGATGGTGAAGTTGAGG 0.488000 40 86 0 0 1 0 0 TEX15 56154 broad.mit.edu 37 8 30703473 30703473 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:30703473C>T ENST00000256246.2 - 1 3135 c.3061G>A c.(3061-3063)Gta>Ata p.V1021I NM_031271.3 NP_112561.2 Q9BXT5 TEX15_HUMAN testis expressed 15 1021 NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1) 138 KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111) TCTTCTCCTACTTTAGTTATA 0.343000 62 163 0 0 1 0 0 ZNF234 10780 broad.mit.edu 37 19 44661832 44661832 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:44661832C>T ENST00000426739.2 + 6 1921 c.1663C>T c.(1663-1665)Ctt>Ttt p.L555F ZNF234_ENST00000592437.1_Missense_Mutation_p.L555F NM_006630.2 NP_006621.1 Q14588 ZN234_HUMAN zinc finger protein 234 555 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|ovary(1)|prostate(1) 23 Prostate(69;0.0435) GAGTGCACACCTTCAAGCCCA 0.483000 49 99 0 0 1 0 0 THBS2 7058 broad.mit.edu 37 6 169632901 169632901 + Missense_Mutation SNP A A G TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:169632901A>G ENST00000366787.3 - 13 2039 c.1790T>C c.(1789-1791)gTc>gCc p.V597A XXyac-YX65C7_A.2_ENST00000444188.1_RNA NM_003247.2 NP_003238.2 P35442 TSP2_HUMAN thrombospondin 2 597 EGF-like 2; calcium-binding (Potential). cell adhesion extracellular region calcium ion binding|heparin binding|protein binding|structural molecule activity NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 111 Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247) OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379) GATGTCGGGGACCAGGGCACA 0.672000 23 44 0 0 1 0 0 PLXNA4 91584 broad.mit.edu 37 7 132193185 132193185 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:132193185C>T ENST00000359827.3 - 2 1230 c.268G>A c.(268-270)Gag>Aag p.E90K PLXNA4_ENST00000321063.4_Missense_Mutation_p.E90K|PLXNA4_ENST00000378539.5_Missense_Mutation_p.E90K|PLXNA4_ENST00000423507.2_Missense_Mutation_p.E90K Q9HCM2 PLXA4_HUMAN plexin A4 90 Sema. integral to membrane|intracellular|plasma membrane NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1) 45 GGGTTGTCCTCGTCCGGCCCT 0.547000 47 94 0 0 1 0 0 SACS 26278 broad.mit.edu 37 13 23907026 23907026 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr13:23907026G>A ENST00000382298.3 - 10 11577 c.10989C>T c.(10987-10989)ttC>ttT p.F3663F SACS_ENST00000402364.1_Silent_p.F2913F|SACS_ENST00000382292.3_Silent_p.F3663F NM_014363.4 NP_055178.3 Q9NZJ4 SACS_HUMAN spastic ataxia of Charlevoix-Saguenay (sacsin) 3663 cell death|negative regulation of inclusion body assembly|protein folding axon|cell body fiber|dendrite|mitochondrion|nucleus ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11) 189 all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128) all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189) GAAATCTAATGAATTCCGCGG 0.363000 35 65 0 0 1 0 0 CWH43 80157 broad.mit.edu 37 4 48990548 48990548 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:48990548C>T ENST00000226432.4 + 2 281 c.98C>T c.(97-99)cCt>cTt p.P33L CWH43_ENST00000513409.1_Missense_Mutation_p.P6L NM_025087.2 NP_079363.2 Q9H720 PG2IP_HUMAN cell wall biogenesis 43 C-terminal homolog (S. cerevisiae) 33 GPI anchor biosynthetic process integral to membrane cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1) 43 TATTACTTTCCTTTGCAAACA 0.353000 17 72 0 0 1 0 0 LRRC31 79782 broad.mit.edu 37 3 169574595 169574595 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:169574595C>T ENST00000316428.5 - 4 610 c.553G>A c.(553-555)Gga>Aga p.G185R LRRC31_ENST00000397805.2_5'UTR|LRRC31_ENST00000264676.5_Missense_Mutation_p.G129R|LRRC31_ENST00000523069.1_Missense_Mutation_p.G185R NM_001277127.1|NM_024727.2 NP_001264056.1|NP_079003.2 Q6UY01 LRC31_HUMAN leucine rich repeat containing 31 185 cervix(3)|endometrium(3)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 31 all_cancers(22;2.76e-22)|all_epithelial(15;4.73e-27)|all_lung(20;9.24e-17)|Lung NSC(18;3.85e-16)|Ovarian(172;0.000223)|Breast(254;0.197) Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00943) GGCAAATTTCCTCCCACTTTA 0.418000 42 89 0 0 1 0 0 TECPR2 9895 broad.mit.edu 37 14 102901490 102901490 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr14:102901490C>T ENST00000359520.7 + 9 2562 c.2336C>T c.(2335-2337)tCc>tTc p.S779F TECPR2_ENST00000558678.1_Missense_Mutation_p.S779F NM_014844.3 NP_055659.2 O15040 TCPR2_HUMAN tectonin beta-propeller repeat containing 2 779 protein binding breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(21)|ovary(2)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1) 50 CCTAGTTGCTCCCAGCAGGAC 0.582000 54 96 0 0 1 0 0 KCNT2 343450 broad.mit.edu 37 1 196309646 196309646 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:196309646C>T ENST00000367433.5 - 16 1709 c.1608G>A c.(1606-1608)ctG>ctA p.L536L KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000294725.8_Silent_p.L536L|KCNT2_ENST00000451324.2_Silent_p.L147L|KCNT2_ENST00000367431.4_Silent_p.L486L Q6UVM3 KCNT2_HUMAN potassium channel, subfamily T, member 2 536 RCK N-terminal. voltage-gated potassium channel complex ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1) 97 GACCTGGATTCAGCAAAATGT 0.308000 49 69 0 0 1 0 0 PNLIPRP1 5407 broad.mit.edu 37 10 118360608 118360608 + Nonsense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:118360608C>T ENST00000528052.1 + 10 1029 c.958C>T c.(958-960)Caa>Taa p.Q320* PNLIPRP1_ENST00000358834.4_Nonsense_Mutation_p.Q320*|PNLIPRP1_ENST00000534537.1_Nonsense_Mutation_p.Q320* P54315 LIPR1_HUMAN pancreatic lipase-related protein 1 320 lipid metabolic process calcium ion binding|triglyceride lipase activity breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 38 all cancers(201;0.0161) GTGTCCAGATCAAGGATGCCC 0.448000 48 106 0 0 1 0 0 PAX2 5076 broad.mit.edu 37 10 102584701 102584701 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:102584701G>A ENST00000370296.2 + 10 1683 c.1133G>A c.(1132-1134)gGg>gAg p.G378E PAX2_ENST00000361791.3_Missense_Mutation_p.G355E|PAX2_ENST00000556085.1_Intron|PAX2_ENST00000428433.1_Intron|PAX2_ENST00000355243.3_Intron Q02962 PAX2_HUMAN paired box 2 0 anti-apoptosis|axonogenesis|brain morphogenesis|branching involved in ureteric bud morphogenesis|cell fate determination|cellular response to glucose stimulus|cellular response to hydrogen peroxide|cellular response to retinoic acid|cochlea development|glial cell differentiation|inner ear morphogenesis|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesodermal cell fate specification|mesonephros development|metanephric collecting duct development|metanephric distal convoluted tubule development|metanephric mesenchymal cell differentiation|metanephric nephron tubule formation|negative regulation of caspase activity|negative regulation of cytolysis|negative regulation of mesenchymal stem cell apoptosis involved in metanephric nephron morphogenesis|negative regulation of reactive oxygen species metabolic process|negative regulation of transcription, DNA-dependent|nephric duct formation|neural tube closure|optic chiasma development|optic cup morphogenesis involved in camera-type eye development|optic nerve structural organization|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of metanephric DCT cell differentiation|positive regulation of metanephric glomerulus development|positive regulation of optic nerve formation|positive regulation of transcription from RNA polymerase II promoter|pronephric field specification|protein kinase B signaling cascade|reactive oxygen species metabolic process|regulation of metanephric nephron tubule epithelial cell differentiation|regulation of metanephros size|retinal pigment epithelium development|stem cell differentiation|transcription from RNA polymerase II promoter|ureter maturation|vestibulocochlear nerve formation|visual perception centriolar satellite|nucleus|protein complex|protein-DNA complex core promoter proximal region sequence-specific DNA binding|superoxide-generating NADPH oxidase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1) 18 Colorectal(252;0.234) Epithelial(162;1.32e-08)|all cancers(201;7.32e-07) AGCAAGCCGGGGAGGAAGCTT 0.602000 9 121 0 0 1 0 0 NEB 4703 broad.mit.edu 37 2 152427050 152427050 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:152427050G>A ENST00000397345.3 - 108 17281 c.17079C>T c.(17077-17079)ccC>ccT p.P5693P NEB_ENST00000604864.1_Silent_p.P5693P|NEB_ENST00000603639.1_Silent_p.P5693P|NEB_ENST00000172853.10_Silent_p.P3992P|NEB_ENST00000427231.2_Silent_p.P5693P|NEB_ENST00000409198.1_Silent_p.P3992P NM_001164508.1 NP_001157980.1 P20929 NEBU_HUMAN nebulin 5710 muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development actin cytoskeleton|cytosol|Z disc actin binding|structural constituent of muscle NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2) 301 BRCA - Breast invasive adenocarcinoma(221;0.219) CAGCCTGGATGGGGATGGCAT 0.488000 7 20 0 0 1 0 0 KCNJ8 3764 broad.mit.edu 37 12 21919464 21919464 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:21919464G>A ENST00000240662.2 - 3 813 c.468C>T c.(466-468)atC>atT p.I156I RP11-59N23.1_ENST00000542489.1_RNA NM_004982.3 NP_004973.1 Q15842 IRK8_HUMAN potassium inwardly-rectifying channel, subfamily J, member 8 156 voltage-gated potassium channel complex cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 28 Levosimendan(DB00922) TCAAAACCGTGATGGCCAAAG 0.443000 26 52 0 0 1 0 0 OR2B3 442184 broad.mit.edu 37 6 29054711 29054711 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:29054711C>T ENST00000377173.2 - 1 379 c.315G>A c.(313-315)ctG>ctA p.L105L NM_001005226.2 NP_001005226.1 olfactory receptor, family 2, subfamily B, member 3 breast(1)|endometrium(1)|kidney(2)|lung(17)|prostate(1)|skin(2) 24 CACCTAGGGCCAGGAAGATGA 0.458000 28 118 0 0 1 0 0 IL13RA1 3597 broad.mit.edu 37 X 117892041 117892041 + Missense_Mutation SNP A A G TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chrX:117892041A>G ENST00000371666.3 + 5 579 c.512A>G c.(511-513)cAt>cGt p.H171R IL13RA1_ENST00000371642.1_Missense_Mutation_p.H171R|IL13RA1_ENST00000481868.1_3'UTR NM_001560.2 NP_001551.1 P78552 I13R1_HUMAN interleukin 13 receptor, alpha 1 171 interleukin-13 receptor complex cytokine receptor activity endometrium(2)|kidney(1)|large_intestine(2)|lung(7) 12 GAAAAAATTCATCAATGTGAA 0.383000 8 78 0 0 1 0 0 LRP2 4036 broad.mit.edu 37 2 169985261 169985261 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:169985261G>A ENST00000263816.3 - 79 14165 c.13880C>T c.(13879-13881)tCg>tTg p.S4627L NM_004525.2 NP_004516.2 P98164 LRP2_HUMAN low density lipoprotein receptor-related protein 2 4627 hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process coated pit|integral to membrane|lysosome calcium ion binding|receptor activity|SH3 domain binding biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13) 315 STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101) Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013) GTCTCTTCTCGAAGGAGGCTT 0.448000 45 157 0 0 1 0 0 TRBV6-1 28606 broad.mit.edu 37 7 142028458 142028458 + RNA SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:142028458G>A ENST00000390353.2 + 0 249 GACTGAGGCTGATTTATTACT 0.498000 15 380 0 0 1 0 0 SNRNP200 23020 broad.mit.edu 37 2 96963116 96963116 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:96963116G>A ENST00000323853.5 - 11 1439 c.1362C>T c.(1360-1362)ccC>ccT p.P454P SNRNP200_ENST00000349783.5_Silent_p.P454P NM_014014.4 NP_054733.2 O75643 U520_HUMAN small nuclear ribonucleoprotein 200kDa (U5) 454 catalytic step 2 spliceosome|nucleoplasm|U5 snRNP ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1) 90 CTGAGCCAAAGGGCTTGGGCT 0.478000 17 46 0 0 1 0 0 OR2L2 26246 broad.mit.edu 37 1 248201801 248201801 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:248201801C>T ENST00000366479.2 + 1 328 c.232C>T c.(232-234)Cca>Tca p.P78S OR2L13_ENST00000366478.2_Intron NM_001004686.2 NP_001004686.1 Q8NH16 OR2L2_HUMAN olfactory receptor, family 2, subfamily L, member 2 78 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(28)|ovary(1)|skin(4)|urinary_tract(1) 42 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0278) CACCATTGTTCCAAAGAtggt 0.398000 201 206 0 0 1 0 0 PMS2 5395 broad.mit.edu 37 7 6026709 6026709 + Nonsense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:6026709G>A ENST00000265849.7 - 11 1792 c.1687C>T c.(1687-1689)Cga>Tga p.R563* PMS2_ENST00000469652.1_Intron|PMS2_ENST00000441476.2_Nonsense_Mutation_p.R457*|PMS2_ENST00000406569.3_Intron|PMS2_ENST00000382321.4_Intron NM_000535.5 NP_000526.1 P54278 PMS2_HUMAN PMS2 postmeiotic segregation increased 2 (S. cerevisiae) 563 mismatch repair|reciprocal meiotic recombination|somatic hypermutation of immunoglobulin genes MutLalpha complex ATP binding|ATPase activity|endonuclease activity|protein binding|single base insertion or deletion binding p.R563*(1) breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(11)|lung(13)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 46 Ovarian(82;0.0694) UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15) GGCAAAACTCGAAATTTACAT 0.408000 """Mis, N, F""" """colorectal, endometrial, ovarian, medulloblastoma, glioma""" Direct reversal of damage;Mismatch excision repair (MMR) Turcot syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome 8 326 0 0 1 0 0 OR4S2 219431 broad.mit.edu 37 11 55418616 55418616 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:55418616G>A ENST00000312422.2 + 1 237 c.237G>A c.(235-237)atG>atA p.M79I NM_001004059.2 NP_001004059.2 Q8NH73 OR4S2_HUMAN olfactory receptor, family 4, subfamily S, member 2 79 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.M79I(1) endometrium(1)|kidney(2)|large_intestine(4)|lung(28)|ovary(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 all_epithelial(135;0.0748) CTCCCAAGATGATTGTTGACC 0.428000 85 207 0 0 1 0 0 HINFP 25988 broad.mit.edu 37 11 119001503 119001503 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:119001503C>T ENST00000350777.2 + 3 313 c.250C>T c.(250-252)Cgc>Tgc p.R84C HINFP_ENST00000527354.1_3'UTR|HINFP_ENST00000527410.1_Missense_Mutation_p.R84C NM_001243259.1|NM_015517.4|NM_198971.2 NP_001230188.1|NP_056332.2|NP_945322.1 Q9BQA5 HINFP_HUMAN histone H4 transcription factor 84 DNA damage checkpoint|DNA repair|establishment of protein localization|in utero embryonic development|myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle Cajal body enzyme binding|histone binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding|zinc ion binding endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 TGACCTCATCCGCCATGTCTA 0.527000 13 153 0 0 1 0 0 HNF4G 3174 broad.mit.edu 37 8 76456121 76456121 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:76456121G>A ENST00000396423.2 + 2 288 c.164G>A c.(163-165)aGa>aAa p.R55K HNF4G_ENST00000354370.1_Missense_Mutation_p.R18K NM_004133.4 NP_004124.4 Q14541 HNF4G_HUMAN hepatocyte nuclear factor 4, gamma 18 endocrine pancreas development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 37 Breast(64;0.0448) BRCA - Breast invasive adenocarcinoma(89;0.161) TGTGGGGACAGAGCAACAGGA 0.453000 33 61 0 0 1 0 0 PEX26 55670 broad.mit.edu 37 22 18562715 18562715 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr22:18562715C>T ENST00000329627.6 + 3 512 c.306C>T c.(304-306)gtC>gtT p.V102V PEX26_ENST00000428061.2_Silent_p.V102V|PEX26_ENST00000399744.3_Silent_p.V102V NM_017929.5 NP_060399.1 Q7Z412 PEX26_HUMAN peroxisomal biogenesis factor 26 102 protein import into peroxisome matrix|protein import into peroxisome membrane integral to peroxisomal membrane protein C-terminus binding|protein complex binding breast(1)|kidney(2)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 13 GGCAAGAAGTCCTCTCCTGGG 0.517000 35 69 0 0 1 0 0 FBLN1 2192 broad.mit.edu 37 22 45960772 45960772 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr22:45960772C>T ENST00000348697.2 + 15 1853 c.1706C>T c.(1705-1707)tCc>tTc p.S569F FBLN1_ENST00000327858.6_Intron|FBLN1_ENST00000442170.2_Missense_Mutation_p.S569F P23142 FBLN1_HUMAN fibulin 1 569 EGF-like 9; calcium-binding. interspecies interaction between organisms extracellular space|soluble fraction calcium ion binding|extracellular matrix structural constituent|protein binding biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1) 30 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.0182) AGGCAGAAATCCAAGAAGGGA 0.522000 25 51 0 0 1 0 0 NOB1 28987 broad.mit.edu 37 16 69783232 69783232 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr16:69783232G>A ENST00000268802.5 - 5 438 c.409C>T c.(409-411)Cca>Tca p.P137S NM_014062.1 NP_054781.1 Q9ULX3 NOB1_HUMAN NIN1/RPN12 binding protein 1 homolog (S. cerevisiae) 137 nucleus metal ion binding|protein binding breast(2)|cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 11 GTTTCTTGTGGGGGTTTAGGC 0.393000 32 44 0 0 1 0 0 PRKRIR 5612 broad.mit.edu 37 11 76062972 76062972 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:76062972G>A ENST00000260045.3 - 5 1327 c.1222C>T c.(1222-1224)Ctt>Ttt p.L408F NM_004705.2 NP_004696.2 O43422 P52K_HUMAN protein-kinase, interferon-inducible double stranded RNA dependent inhibitor, repressor of (P58 repressor) 408 negative regulation of cell proliferation|response to stress|signal transduction DNA binding|metal ion binding|protein dimerization activity p.L408F(2) cervix(1)|endometrium(3)|large_intestine(4)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1) 25 TTCTGAAAAAGAACAGAAATT 0.383000 24 68 0 0 1 0 0 ACSS3 79611 broad.mit.edu 37 12 81472040 81472040 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:81472040G>A ENST00000548058.1 + 1 1051 c.141G>A c.(139-141)ggG>ggA p.G47G ACSS3_ENST00000261206.3_Silent_p.G47G Q9H6R3 ACSS3_HUMAN acyl-CoA synthetase short-chain family member 3 47 mitochondrion acetate-CoA ligase activity|ATP binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2) 51 GCGGTCTCGGGGGCCGGGGAT 0.736000 15 17 0 0 1 0 0 NXF3 56000 broad.mit.edu 37 X 102339282 102339282 + Nonsense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chrX:102339282C>T ENST00000395065.3 - 3 440 c.339G>A c.(337-339)tgG>tgA p.W113* NXF3_ENST00000425644.1_5'UTR|NXF3_ENST00000425463.2_Nonsense_Mutation_p.W24* NM_022052.1 NP_071335.1 Q9H4D5 NXF3_HUMAN nuclear RNA export factor 3 113 RRM. cytoplasm|nuclear RNA export factor complex nucleocytoplasmic transporter activity|nucleotide binding|protein binding NS(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 26 TGATCTTGAACCAGCTCCCTA 0.463000 80 33 0 0 1 0 0 GRIK4 2900 broad.mit.edu 37 11 120811113 120811113 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:120811113G>A ENST00000527524.2 + 14 1821 c.1534G>A c.(1534-1536)Gat>Aat p.D512N GRIK4_ENST00000438375.2_Missense_Mutation_p.D512N Q16099 GRIK4_HUMAN glutamate receptor, ionotropic, kainate 4 512 glutamate signaling pathway|synaptic transmission cell junction|postsynaptic membrane extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1) 69 Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21) BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116) L-Glutamic Acid(DB00142) GAAGGTGATTGATTTCTCTAA 0.428000 22 32 0 0 1 0 0 PDHA2 5161 broad.mit.edu 37 4 96761346 96761346 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:96761346G>A ENST00000295266.4 + 1 108 c.45G>A c.(43-45)caG>caA p.Q15Q NM_005390.4 NP_005381.1 P29803 ODPAT_HUMAN pyruvate dehydrogenase (lipoamide) alpha 2 15 glycolysis mitochondrial matrix pyruvate dehydrogenase (acetyl-transferring) activity NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 46 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;1.23e-06) NADH(DB00157) GAGTTGCCCAGAAATCAGCTC 0.542000 18 42 0 0 1 0 0 ATP11B 23200 broad.mit.edu 37 3 182591671 182591671 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:182591671G>A ENST00000323116.5 + 19 2380 c.2120G>A c.(2119-2121)gGg>gAg p.G707E NM_014616.2 NP_055431.1 Q9Y2G3 AT11B_HUMAN ATPase, class VI, type 11B 707 aminophospholipid transport|ATP biosynthetic process integral to membrane|nuclear inner membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity breast(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1) 41 all_cancers(143;9.04e-15)|Ovarian(172;0.0355) all cancers(12;1.2e-42)|Epithelial(37;2.77e-36)|LUSC - Lung squamous cell carcinoma(7;7.58e-24)|Lung(8;4.66e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.35e-20) GTACTTACTGGGGATAAACAT 0.363000 5 106 0 0 1 0 0 CCL24 6369 broad.mit.edu 37 7 75443022 75443022 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:75443022C>T ENST00000416943.1 - 2 105 c.12G>A c.(10-12)ctG>ctA p.L4L CCL24_ENST00000222902.2_Silent_p.L4L NM_002991.2 NP_002982.2 O00175 CCL24_HUMAN chemokine (C-C motif) ligand 24 4 cell-cell signaling|chemotaxis|immune response|inflammatory response|positive regulation of actin filament polymerization|positive regulation of cell migration|positive regulation of endothelial cell proliferation|positive regulation of Rac GTPase activity|signal transduction extracellular space chemokine activity endometrium(1)|lung(2) 3 CTATGGTCATCAGGCCTGCCA 0.557000 6 174 0 0 1 0 0 KCNQ2 3785 broad.mit.edu 37 20 62038321 62038321 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr20:62038321G>A ENST00000354587.3 - 17 2495 c.2319C>T c.(2317-2319)ttC>ttT p.F773F KCNQ2_ENST00000370226.1_Silent_p.F735F|KCNQ2_ENST00000359125.2_Silent_p.F765F|KCNQ2_ENST00000360480.3_Silent_p.F737F|KCNQ2_ENST00000357249.2_Silent_p.F747F|KCNQ2_ENST00000344462.3_Silent_p.F761F|KCNQ2_ENST00000430658.1_Silent_p.F734F|KCNQ2_ENST00000359689.1_Silent_p.F765F|KCNQ2_ENST00000370224.1_Silent_p.F773F O43526 KCNQ2_HUMAN potassium voltage-gated channel, KQT-like subfamily, member 2 765 axon guidance|synaptic transmission voltage-gated potassium channel complex voltage-gated potassium channel activity biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|liver(1)|lung(30)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 65 all_cancers(38;1.24e-11) BRCA - Breast invasive adenocarcinoma(10;1.04e-05) Amitriptyline(DB00321) CCTGCCGCAGGAACTCCATGC 0.741000 6 6 0 0 1 0 0 SEC16A 9919 broad.mit.edu 37 9 139353607 139353607 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:139353607G>A ENST00000313050.7 - 15 5461 c.5388C>T c.(5386-5388)acC>acT p.T1796T SEC16A_ENST00000290037.6_Silent_p.T1618T|SEC16A_ENST00000431893.2_Silent_p.T1618T|SEC16A_ENST00000371706.3_Silent_p.T1618T NM_014866.1 NP_055681.1 O15027 SC16A_HUMAN SEC16 homolog A (S. cerevisiae) 1618 Pro-rich. protein transport|vesicle-mediated transport endoplasmic reticulum membrane|Golgi membrane breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 Myeloproliferative disorder(178;0.0511) Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06) GCAGGGGGCAGGTCTCGGCAC 0.542000 11 96 0 0 1 0 0 HEPACAM2 253012 broad.mit.edu 37 7 92837997 92837997 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:92837997G>A ENST00000394468.2 - 4 985 c.908C>T c.(907-909)tCt>tTt p.S303F HEPACAM2_ENST00000341723.4_Missense_Mutation_p.S291F|HEPACAM2_ENST00000453812.2_Missense_Mutation_p.S326F|HEPACAM2_ENST00000440868.1_Missense_Mutation_p.S291F NM_001039372.1 NP_001034461.1 A8MVW5 HECA2_HUMAN HEPACAM family member 2 303 Ig-like C2-type 2. integral to membrane breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(4)|skin(1) 28 TACTTTCTCAGATGCAACTTC 0.443000 32 174 0 0 1 0 0 ACSL5 51703 broad.mit.edu 37 10 114164309 114164309 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:114164309C>T ENST00000393081.1 + 4 613 c.306C>T c.(304-306)ccC>ccT p.P102P ACSL5_ENST00000354273.4_Silent_p.P102P|ACSL5_ENST00000479936.1_3'UTR|ACSL5_ENST00000354655.4_Silent_p.P102P|ACSL5_ENST00000356116.1_Silent_p.P158P|ACSL5_ENST00000433418.1_Silent_p.P102P NM_203380.1 NP_976314.1 Q9ULC5 ACSL5_HUMAN acyl-CoA synthetase long-chain family member 5 102 fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process endoplasmic reticulum membrane|integral to membrane|mitochondrial outer membrane ATP binding|long-chain fatty acid-CoA ligase activity breast(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|stomach(1) 21 Colorectal(252;0.117)|Breast(234;0.222) Epithelial(162;0.0343)|all cancers(201;0.137) CAAACCAGCCCTACAGATGGC 0.373000 25 53 0 0 1 0 0 ATRX 546 broad.mit.edu 37 X 76938592 76938592 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chrX:76938592G>A ENST00000373344.5 - 9 2370 c.2156C>T c.(2155-2157)tCt>tTt p.S719F ATRX_ENST00000395603.3_Missense_Mutation_p.S681F|ATRX_ENST00000480283.1_5'UTR NM_000489.3 NP_000480.2 P46100 ATRX_HUMAN alpha thalassemia/mental retardation syndrome X-linked 719 DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent nuclear heterochromatin ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding p.?(1) bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 145 Phosphatidylserine(DB00144) TGATTGCTTAGATTTTGGCAA 0.368000 """Mis, F, N""" """Pancreatic neuroendocrine tumors, paediatric GBM""" ATR-X (alpha thalassemia/mental retardation) syndrome 28 175 0 0 1 0 0 TCF20 6942 broad.mit.edu 37 22 42610693 42610693 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr22:42610693G>A ENST00000359486.3 - 1 755 c.619C>T c.(619-621)Cat>Tat p.H207Y TCF20_ENST00000335626.4_Missense_Mutation_p.H207Y NM_005650.1 NP_005641.1 Q9UGU0 TCF20_HUMAN transcription factor 20 (AR1) 207 Ser-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|transcription coactivator activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5) 66 GGCTGTAGATGGGATGAGCTG 0.562000 42 68 0 0 1 0 0 MIR192 406967 broad.mit.edu 37 11 64658677 64658677 + RNA SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:64658677C>T ENST00000384915.1 - 0 41 NR_029578.1 AGAGCACTGGCTGTCAATTCA 0.632000 3 4 0 0 1 0 0 PIGV 55650 broad.mit.edu 37 1 27121393 27121393 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:27121393G>A ENST00000374145.1 + 3 1550 c.868G>A c.(868-870)Gga>Aga p.G290R PIGV_ENST00000078527.4_Missense_Mutation_p.G290R|PIGV_ENST00000449950.2_Missense_Mutation_p.G62R NM_001202554.1 NP_001189483.1 Q9NUD9 PIGV_HUMAN phosphatidylinositol glycan anchor biosynthesis, class V 290 C-terminal protein lipidation|preassembly of GPI anchor in ER membrane endoplasmic reticulum membrane|integral to membrane glycolipid mannosyltransferase activity NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(2) 14 all_cancers(24;3.93e-26)|all_epithelial(13;3.96e-23)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.26e-54)|Epithelial(14;2.85e-53)|OV - Ovarian serous cystadenocarcinoma(117;1.91e-30)|Colorectal(126;1.31e-09)|COAD - Colon adenocarcinoma(152;3.45e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000504)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|GBM - Glioblastoma multiforme(114;0.0222)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.153)|LUSC - Lung squamous cell carcinoma(448;0.227) GATTGCAGAGGGAAATGAACC 0.478000 114 258 0 0 1 0 0 CACNA2D3 55799 broad.mit.edu 37 3 54933864 54933864 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:54933864C>T ENST00000474759.1 + 27 2466 c.2418C>T c.(2416-2418)ctC>ctT p.L806L CACNA2D3_ENST00000490478.1_Silent_p.L712L|CACNA2D3-AS1_ENST00000471265.1_RNA|CACNA2D3_ENST00000288197.5_Silent_p.L806L|CACNA2D3_ENST00000415676.2_Silent_p.L806L NM_018398.2 NP_060868.2 Q8IZS8 CA2D3_HUMAN calcium channel, voltage-dependent, alpha 2/delta subunit 3 806 integral to membrane calcium channel activity|metal ion binding|voltage-gated ion channel activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3) 59 KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327) CCATCCAGCTCCTGGATGAAC 0.428000 10 14 0 0 1 0 0 PKHD1L1 93035 broad.mit.edu 37 8 110457766 110457766 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:110457766G>A ENST00000378402.5 + 38 5772 c.5668G>A c.(5668-5670)Gga>Aga p.G1890R NM_177531.4 NP_803875.2 Q86WI1 PKHL1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 1890 IPT/TIG 11. immune response cytosol|extracellular space|integral to membrane receptor activity NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4) 263 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) TGGGACCACTGGAATGGTCGA 0.433000 HNSCC(38;0.096) 13 22 0 0 1 0 0 GABBR2 9568 broad.mit.edu 37 9 101304265 101304265 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:101304265G>A ENST00000259455.2 - 3 979 c.520C>T c.(520-522)Cgg>Tgg p.R174W GABBR2_ENST00000477471.1_5'UTR NM_005458.7 NP_005449.5 O75899 GABR2_HUMAN gamma-aminobutyric acid (GABA) B receptor, 2 174 negative regulation of adenylate cyclase activity|synaptic transmission cell junction|integral to plasma membrane|postsynaptic membrane G-protein coupled receptor activity|GABA-B receptor activity NOTCH1_ENST00000277541/GABBR2(2) breast(4)|endometrium(4)|large_intestine(12)|lung(21)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1) 49 Acute lymphoblastic leukemia(62;0.0527) Baclofen(DB00181) GGGACGGTCCGAAAGAAATAA 0.478000 4 84 0 0 1 0 0 BDH1 622 broad.mit.edu 37 3 197241154 197241154 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:197241154G>A ENST00000392379.1 - 7 944 c.543C>T c.(541-543)ccC>ccT p.P181P BDH1_ENST00000441275.1_Silent_p.P94P|BDH1_ENST00000358186.2_Silent_p.P181P|BDH1_ENST00000392378.2_Silent_p.P181P NM_203314.2 NP_976059.1 Q02338 BDH_HUMAN 3-hydroxybutyrate dehydrogenase, type 1 181 cellular lipid metabolic process|ketone body biosynthetic process|ketone body catabolic process mitochondrial matrix 3-hydroxybutyrate dehydrogenase activity endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1) 11 all_cancers(143;3.35e-10)|Ovarian(172;0.0418)|Breast(254;0.0437) Lung NSC(153;0.118) Epithelial(36;3.52e-24)|all cancers(36;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(49;2.32e-19)|LUSC - Lung squamous cell carcinoma(58;1.02e-06)|Lung(62;1.34e-06) GBM - Glioblastoma multiforme(93;0.0977) NADH(DB00157) TTCGGATGAGGGGGAGAAAGG 0.572000 26 54 0 0 1 0 0 CDH7 1005 broad.mit.edu 37 18 63547647 63547647 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr18:63547647C>T ENST00000397968.2 + 12 2301 c.1875C>T c.(1873-1875)ctC>ctT p.L625L CDH7_ENST00000323011.3_Silent_p.L625L NM_004361.2 NP_004352.2 Q9ULB5 CADH7_HUMAN cadherin 7, type 2 625 adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2) 80 Esophageal squamous(42;0.129) TGTTGATCCTCCTTATCGTCA 0.433000 16 54 0 0 1 0 0 MSR1 4481 broad.mit.edu 37 8 15998551 15998551 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:15998551G>A ENST00000381998.4 - 9 1102 c.1037C>T c.(1036-1038)cCa>cTa p.P346L MSR1_ENST00000350896.3_Intron|MSR1_ENST00000262101.5_Intron|MSR1_ENST00000445506.2_Intron|MSR1_ENST00000536385.1_Missense_Mutation_p.P120L|MSR1_ENST00000355282.2_Intron NM_002445.3 NP_002436.1 P21757 MSRE_HUMAN macrophage scavenger receptor 1 346 cholesterol transport|plasma lipoprotein particle clearance|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis collagen|integral to plasma membrane|low-density lipoprotein particle low-density lipoprotein particle binding|protein binding|scavenger receptor activity haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(7)|lung(14)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 37 Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164) GAGTTGTACTGGTCCTGACAC 0.373000 10 103 0 0 1 0 0 PTPN13 5783 broad.mit.edu 37 4 87696600 87696600 + Missense_Mutation SNP T T C TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:87696600T>C ENST00000436978.1 + 35 6181 c.5701T>C c.(5701-5703)Tcc>Ccc p.S1901P PTPN13_ENST00000511467.1_Missense_Mutation_p.S1901P|PTPN13_ENST00000316707.6_Missense_Mutation_p.S1705P|PTPN13_ENST00000427191.2_Missense_Mutation_p.S1877P|PTPN13_ENST00000411767.2_Missense_Mutation_p.S1896P NM_080683.2|NM_080685.2 NP_542414.1|NP_542416.1 Q12923 PTN13_HUMAN protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase) 1896 PDZ 5. cytoplasm|cytoskeleton|plasma membrane protein binding|protein tyrosine phosphatase activity NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2) 93 Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242) OV - Ovarian serous cystadenocarcinoma(123;0.00082) TCAAGGTTTTTCCTTATGTGG 0.333000 13 26 0 0 1 0 0 OPCML 4978 broad.mit.edu 37 11 132306055 132306055 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:132306055C>T ENST00000331898.7 - 6 1440 c.862G>A c.(862-864)Gaa>Aaa p.E288K OPCML_ENST00000529038.1_5'UTR|OPCML_ENST00000541867.1_Missense_Mutation_p.E288K|OPCML_ENST00000374778.4_Missense_Mutation_p.E247K|OPCML_ENST00000524381.1_Missense_Mutation_p.E281K NM_002545.3 NP_002536.1 Q14982 OPCM_HUMAN opioid binding protein/cell adhesion molecule-like 288 Ig-like C2-type 3. cell adhesion|neuron recognition anchored to membrane|integral to plasma membrane opioid receptor activity endometrium(5)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|skin(2)|urinary_tract(8) 47 all_hematologic(175;0.019) all_cancers(12;5.86e-24)|all_epithelial(12;2.65e-17)|all_lung(97;2.89e-05)|Lung NSC(97;6.16e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0269)|all_neural(223;0.0326)|Esophageal squamous(93;0.129) all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012) TAATCCTTTTCTGAAACATTG 0.468000 39 43 0 0 1 0 0 IL1RL2 8808 broad.mit.edu 37 2 102851604 102851604 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:102851604G>A ENST00000264257.2 + 11 1671 c.1545G>A c.(1543-1545)ggG>ggA p.G515G IL1RL2_ENST00000481806.1_3'UTR|IL1RL2_ENST00000539491.1_Silent_p.G515G|IL1RL2_ENST00000441515.2_Silent_p.G397G NM_003854.2 NP_003845.2 Q9HB29 ILRL2_HUMAN interleukin 1 receptor-like 2 515 TIR. cellular defense response|innate immune response integral to plasma membrane interleukin-1, Type I, activating receptor activity breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|liver(2)|lung(8)|ovary(2)|prostate(1) 26 GGTGGCATGGGGACTTCACGG 0.512000 OREG0014848 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 52 103 0 0 1 0 0 AES 166 broad.mit.edu 37 19 3054020 3054020 + Nonsense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:3054020G>A ENST00000221561.8 - 7 771 c.592C>T c.(592-594)Cag>Tag p.Q198* AES_ENST00000592330.1_Intron|AES_ENST00000327141.4_Nonsense_Mutation_p.Q131*|AES_ENST00000586839.1_Nonsense_Mutation_p.Q75* NM_198969.1 NP_945320.1 Q08117 AES_HUMAN amino-terminal enhancer of split 131 negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of response to cytokine stimulus|negative regulation of transcription from RNA polymerase II promoter|organ morphogenesis|response to interleukin-1|transcription, DNA-dependent|Wnt receptor signaling pathway nucleus protein binding|transcription corepressor activity p.Q198K(1) lung(8) 8 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) TGGGACAGCTGGTGGGCTTGG 0.721000 6 20 0 0 1 0 0 OR5T2 219464 broad.mit.edu 37 11 56000385 56000385 + Nonsense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:56000385G>A ENST00000313264.4 - 1 352 c.277C>T c.(277-279)Cag>Tag p.Q93* NM_001004746.1 NP_001004746.1 Q8NGG2 OR5T2_HUMAN olfactory receptor, family 5, subfamily T, member 2 93 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(6)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(3) 41 Esophageal squamous(21;0.00448) TTGTGGAGCTGGGAATCCCTA 0.398000 27 50 0 0 1 0 0 SORL1 6653 broad.mit.edu 37 11 121448047 121448047 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:121448047C>T ENST00000260197.7 + 25 3647 c.3518C>T c.(3517-3519)tCc>tTc p.S1173F SORL1_ENST00000532694.1_Missense_Mutation_p.S19F|SORL1_ENST00000525532.1_Missense_Mutation_p.S117F|SORL1_ENST00000534286.1_Missense_Mutation_p.S83F NM_003105.5 NP_003096.1 Q92673 SORL_HUMAN sortilin-related receptor, L(DLR class) A repeats containing 1173 LDL-receptor class A 3. cholesterol metabolic process|lipid transport|receptor-mediated endocytosis integral to plasma membrane|low-density lipoprotein particle low-density lipoprotein particle binding|transmembrane receptor activity NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2) 91 Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113) BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108) TGCATCCGCTCCTCCTGGGTA 0.547000 49 45 0 0 1 0 0 TESPA1 9840 broad.mit.edu 37 12 55357661 55357661 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:55357661C>T ENST00000524622.1 - 6 767 c.106G>A c.(106-108)Gat>Aat p.D36N TESPA1_ENST00000449076.1_Missense_Mutation_p.D174N|TESPA1_ENST00000524959.1_5'UTR|TESPA1_ENST00000532804.1_Missense_Mutation_p.D36N|TESPA1_ENST00000531122.1_Missense_Mutation_p.D36N|TESPA1_ENST00000316577.8_Missense_Mutation_p.D174N NM_001261844.1|NM_014796.2 NP_001248773.1|NP_055611.1 A2RU30 K0748_HUMAN thymocyte expressed, positive selection associated 1 174 TCTTTGTGATCCTCTTGGCCA 0.498000 63 103 0 0 1 0 0 SOX30 11063 broad.mit.edu 37 5 157078583 157078583 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:157078583C>T ENST00000265007.6 - 1 845 c.504G>A c.(502-504)ttG>ttA p.L168L SOX30_ENST00000519442.1_Intron|SOX30_ENST00000311371.5_Silent_p.L168L NM_178424.1 NP_848511.1 O94993 SOX30_HUMAN SRY (sex determining region Y)-box 30 168 regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|response to corticosteroid stimulus|transcription, DNA-dependent nucleus sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1) 23 Renal(175;0.00488) Medulloblastoma(196;0.0354)|all_neural(177;0.138) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) CGGGGCCTTCCAACTTGACCA 0.662000 29 57 0 0 1 0 0 PTPRG 5793 broad.mit.edu 37 3 62180805 62180805 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:62180805G>A ENST00000474889.1 + 10 1665 c.1288G>A c.(1288-1290)Gac>Aac p.D430N PTPRG_ENST00000295874.10_Missense_Mutation_p.D430N NM_002841.3 NP_002832.3 P23470 PTPRG_HUMAN protein tyrosine phosphatase, receptor type, G 430 Fibronectin type-III. transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane identical protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 62 BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065) GTGTCGGAACGACATGCGCAG 0.547000 56 111 0 0 1 0 0 GTPBP10 85865 broad.mit.edu 37 7 89984447 89984447 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:89984447C>T ENST00000222511.6 + 4 433 c.367C>T c.(367-369)Ctt>Ttt p.L123F GTPBP10_ENST00000257659.8_Intron NM_033107.3 NP_149098.2 A4D1E9 GTPBA_HUMAN GTP-binding protein 10 (putative) 123 ribosome biogenesis chromosome|nucleolus GTP binding|GTPase activity|magnesium ion binding endometrium(1)|kidney(2)|large_intestine(3)|lung(4) 10 TCAAGGAGGTCTTGGTGGTAA 0.343000 38 176 0 0 1 0 0 CYP4Z1 199974 broad.mit.edu 37 1 47571801 47571801 + Splice_Site SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:47571801G>A ENST00000334194.3 + 9 1072 c.1067_splice c.e9-1 p.E357_splice CYP4A22-AS1_ENST00000444042.2_lincRNA NM_178134.2 NP_835235.1 Q86W10 CP4Z1_HUMAN cytochrome P450, family 4, subfamily Z, polypeptide 1 357 endoplasmic reticulum membrane|integral to membrane|microsome aromatase activity|electron carrier activity|heme binding cervix(1)|large_intestine(4)|lung(4)|skin(1)|stomach(1) 11 TCTACCCAGGGAACACCTGAG 0.483000 53 115 0 0 1 0 0 RPP40 10799 broad.mit.edu 37 6 4996477 4996477 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:4996477G>A ENST00000380051.2 - 6 781 c.737C>T c.(736-738)gCc>gTc p.A246V RPP40_ENST00000464646.1_Missense_Mutation_p.A186V|RPP40_ENST00000319533.5_Missense_Mutation_p.A223V NM_006638.2 NP_006629.2 O75818 RPP40_HUMAN ribonuclease P/MRP 40kDa subunit 246 tRNA processing nucleolar ribonuclease P complex protein binding|ribonuclease P activity p.A246>?(1) NS(1)|breast(1)|large_intestine(4)|lung(4)|ovary(1)|skin(2)|urinary_tract(1) 14 Ovarian(93;0.11) all_hematologic(90;0.0895) ACTGAAGACGGCGCCGAGCCA 0.557000 49 112 0 0 1 0 0 CLCN1 1180 broad.mit.edu 37 7 143029932 143029932 + Missense_Mutation SNP T T C TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:143029932T>C ENST00000343257.2 + 12 1454 c.1367T>C c.(1366-1368)gTt>gCt p.V456A NM_000083.2 NP_000074.2 P35523 CLCN1_HUMAN chloride channel, voltage-sensitive 1 456 muscle contraction chloride channel complex|integral to plasma membrane voltage-gated chloride channel activity breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2) 58 Melanoma(164;0.205) CGGGTCAACGTTGTCATCATC 0.488000 92 165 0 0 1 0 0 CTCFL 140690 broad.mit.edu 37 20 56093924 56093924 + Missense_Mutation SNP C C T rs143392924 TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr20:56093924C>T ENST00000426658.2 - 4 1610 c.949G>A c.(949-951)Gac>Aac p.D317N CTCFL_ENST00000481655.1_5'UTR|CTCFL_ENST00000502686.2_Missense_Mutation_p.D55N|CTCFL_ENST00000429804.2_Missense_Mutation_p.D317N|CTCFL_ENST00000243914.3_Missense_Mutation_p.D317N|CTCFL_ENST00000433949.2_Missense_Mutation_p.D317N|CTCFL_ENST00000432255.2_Missense_Mutation_p.D317N|CTCFL_ENST00000422109.2_Missense_Mutation_p.D317N|CTCFL_ENST00000423479.2_Missense_Mutation_p.D317N|CTCFL_ENST00000422869.2_Missense_Mutation_p.D317N|CTCFL_ENST00000539382.1_Missense_Mutation_p.D112N|CTCFL_ENST00000371196.2_Missense_Mutation_p.D317N Q8NI51 CTCFL_HUMAN CCCTC-binding factor (zinc finger protein)-like 317 cell cycle|DNA methylation involved in gamete generation|histone methylation|positive regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|regulation of histone H3-K4 methylation|transcription, DNA-dependent cytoplasm|nucleus histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding p.D317N(3) NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242) BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07) ATGTTGCAGTCGTTACACTTG 0.398000 35 78 0 0 1 0 0 OR5AR1 219493 broad.mit.edu 37 11 56431347 56431347 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:56431347C>T ENST00000302969.2 + 1 210 c.186C>T c.(184-186)ttC>ttT p.F62F NM_001004730.1 NP_001004730.1 Q8NGP9 O5AR1_HUMAN olfactory receptor, family 5, subfamily AR, member 1 (gene/pseudogene) 62 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(12)|prostate(1)|skin(3)|stomach(1) 26 TGTATTTTTTCCTCTGCAACC 0.448000 101 221 0 0 1 0 0 SP7 121340 broad.mit.edu 37 12 53722077 53722077 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:53722077G>A ENST00000536324.2 - 3 1432 c.1149C>T c.(1147-1149)ccC>ccT p.P383P SP7_ENST00000537210.2_Silent_p.P365P|SP7_ENST00000303846.3_Silent_p.P383P NM_001173467.1 NP_001166938.1 Q8TDD2 SP7_HUMAN Sp7 transcription factor 383 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding cervix(2)|large_intestine(3)|lung(7)|skin(1)|urinary_tract(1) 14 CACTGGGAGGGGGACCCGGGC 0.667000 OREG0021867 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 12 40 0 0 1 0 0 CCDC146 57639 broad.mit.edu 37 7 76903071 76903071 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:76903071G>A ENST00000285871.4 + 10 1361 c.1234G>A c.(1234-1236)Gaa>Aaa p.E412K CCDC146_ENST00000431197.1_Intron|CCDC146_ENST00000415740.2_Intron NM_020879.2 NP_065930.2 Q8IYE0 CC146_HUMAN coiled-coil domain containing 146 412 breast(3)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(2) 34 all_cancers(73;0.128)|all_lung(88;0.0986)|all_epithelial(88;0.163)|Myeloproliferative disorder(862;0.205) GCTTCACAAGGAAGTTGAAGT 0.353000 93 174 0 0 1 0 0 NLRP3 114548 broad.mit.edu 37 1 247588793 247588793 + Missense_Mutation SNP T T C TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:247588793T>C ENST00000366497.2 + 4 2828 c.2048T>C c.(2047-2049)tTt>tCt p.F683S NLRP3_ENST00000391827.2_Missense_Mutation_p.F683S|NLRP3_ENST00000366496.2_Missense_Mutation_p.F683S|NLRP3_ENST00000336119.3_Missense_Mutation_p.F683S|NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000348069.2_Missense_Mutation_p.F683S|NLRP3_ENST00000391828.3_Missense_Mutation_p.F683S NM_001127461.2 NP_001120933.1 Q96P20 NALP3_HUMAN NLR family, pyrin domain containing 3 683 detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction cytoplasm ATP binding|peptidoglycan binding|protein binding NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 142 all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.0172) OV - Ovarian serous cystadenocarcinoma(106;0.0141) TCCCTGGGGTTTCTCCATAAC 0.512000 6 110 0 0 1 0 0 RBM33 155435 broad.mit.edu 37 7 155556607 155556607 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:155556607C>T ENST00000401878.3 + 15 3279 c.3081C>T c.(3079-3081)acC>acT p.T1027T RBM33_ENST00000341148.3_5'UTR NM_053043.2 NP_444271.2 Q96EV2 RBM33_HUMAN RNA binding motif protein 33 1027 nucleotide binding|RNA binding breast(3)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1) 27 all_neural(206;0.101) all_hematologic(28;0.0592) OV - Ovarian serous cystadenocarcinoma(82;0.011) UCEC - Uterine corpus endometrioid carcinoma (81;0.2) TGACGCTGACCAGGGGGGGCC 0.662000 8 21 0 0 1 0 0 SLC35F2 54733 broad.mit.edu 37 11 107677586 107677586 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:107677586C>T ENST00000525071.1 - 7 1019 c.431G>A c.(430-432)gGg>gAg p.G144E SLC35F2_ENST00000265836.7_5'UTR|SLC35F2_ENST00000429869.1_Missense_Mutation_p.G144E|SLC35F2_ENST00000375682.4_Missense_Mutation_p.G97E|SLC35F2_ENST00000525815.1_Missense_Mutation_p.G144E Q8IXU6 S35F2_HUMAN solute carrier family 35, member F2 144 transport integral to membrane breast(1)|central_nervous_system(1)|endometrium(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 8 all_cancers(61;9.46e-06)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;0.000111)|all_hematologic(158;0.000315)|all_epithelial(67;0.00197)|Breast(348;0.104) BRCA - Breast invasive adenocarcinoma(274;3.28e-05)|Epithelial(105;0.000105)|all cancers(92;0.00217) CACAGGAATCCCAAAGCAATC 0.403000 27 48 0 0 1 0 0 DPP6 1804 broad.mit.edu 37 7 154677455 154677455 + Splice_Site SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:154677455G>A ENST00000404039.1 + 22 2640 c.e22+1 DPP6_ENST00000427557.1_Splice_Site|DPP6_ENST00000377770.3_Splice_Site|DPP6_ENST00000332007.3_Splice_Site NM_001039350.1|NM_001936.3|NM_130797.2 NP_001034439.1|NP_001927.3|NP_570629.2 P42658 DPP6_HUMAN dipeptidyl-peptidase 6 cell death|proteolysis integral to membrane dipeptidyl-peptidase activity|serine-type peptidase activity NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 71 all_neural(206;0.181) all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204) OV - Ovarian serous cystadenocarcinoma(82;0.0562) AAACTCTATGGTAAATAGCCC 0.612000 4 29 0 0 1 0 0 TPCN1 53373 broad.mit.edu 37 12 113726016 113726016 + Silent SNP C C T rs114165597 byFrequency TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:113726016C>T ENST00000550785.1 + 21 2068 c.1899C>T c.(1897-1899)ttC>ttT p.F633F TPCN1_ENST00000335509.6_Silent_p.F561F|TPCN1_ENST00000541517.1_Silent_p.F633F|TPCN1_ENST00000392569.4_Silent_p.F493F NM_001143819.1 NP_001137291.1 Q9ULQ1 TPC1_HUMAN two pore segment channel 1 561 endosome membrane|integral to membrane|lysosomal membrane NAADP-sensitive calcium-release channel activity|voltage-gated ion channel activity cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(1) 40 ACACCATGTTCGAGCTGCTGC 0.672000 24 44 0 0 1 0 0 LMO7 4008 broad.mit.edu 37 13 76414540 76414540 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr13:76414540C>T ENST00000357063.3 + 23 4907 c.3647C>T c.(3646-3648)aCc>aTc p.T1216I LMO7_ENST00000465261.2_Missense_Mutation_p.T931I|LMO7_ENST00000341547.4_Missense_Mutation_p.T882I|LMO7_ENST00000526202.1_Missense_Mutation_p.T808I|LMO7_ENST00000321797.8_Missense_Mutation_p.T931I|LMO7_ENST00000377534.3_Missense_Mutation_p.T1216I Q8WWI1 LMO7_HUMAN LIM domain 7 1216 cytoplasm|nucleus|ubiquitin ligase complex ubiquitin-protein ligase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 56 Breast(118;0.0992) GBM - Glioblastoma multiforme(99;0.0109) CCAGTTCCAACCATCAGTGCC 0.498000 4 38 0 0 1 0 0 NXN 64359 broad.mit.edu 37 17 882906 882906 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:882906G>A ENST00000336868.3 - 1 104 c.13C>T c.(13-15)Ctg>Ttg p.L5L NM_022463.4 NP_071908.2 Q6DKJ4 NXN_HUMAN nucleoredoxin 5 cell differentiation|cell redox homeostasis|multicellular organismal development|Wnt receptor signaling pathway cytosol|nucleus protein-disulfide reductase activity breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|ovary(2)|pancreas(1)|prostate(1) 13 UCEC - Uterine corpus endometrioid carcinoma (25;0.0237) AGCTCCTCCAGGAAGCCCGAC 0.761000 7 8 0 0 1 0 0 NFATC2 4773 broad.mit.edu 37 20 50049163 50049163 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr20:50049163G>A ENST00000371564.3 - 9 2382 c.2163C>T c.(2161-2163)ctC>ctT p.L721L NFATC2_ENST00000396009.3_Silent_p.L721L|NFATC2_ENST00000414705.1_Silent_p.L701L NM_001258296.1|NM_012340.4 NP_001245225.1|NP_036472.2 Q13469 NFAC2_HUMAN nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2 721 B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug actin cytoskeleton|nucleus|plasma membrane protein binding|sequence-specific DNA binding transcription factor activity EWSR1/NFATC2(9) breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1) 53 Hepatocellular(150;0.248) TGGTGGCCACGAGGCAGGAGG 0.662000 22 47 0 0 1 0 0 EML3 256364 broad.mit.edu 37 11 62377131 62377131 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:62377131G>A ENST00000394773.2 - 5 911 c.604C>T c.(604-606)Cct>Tct p.P202S EML3_ENST00000529309.1_Missense_Mutation_p.P202S|EML3_ENST00000531557.1_5'UTR|EML3_ENST00000494176.2_Missense_Mutation_p.P174S|EML3_ENST00000278845.4_Missense_Mutation_p.P203S NM_153265.2 NP_694997.2 Q32P44 EMAL3_HUMAN echinoderm microtubule associated protein like 3 202 cytoplasm|microtubule protein binding biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 26 CGAGATCCAGGGCCCCCAGGG 0.577000 144 273 0 0 1 0 0 FUT8 2530 broad.mit.edu 37 14 66082709 66082709 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr14:66082709C>T ENST00000360689.5 + 4 1944 c.217C>T c.(217-219)Cct>Tct p.P73S FUT8_ENST00000394586.2_Missense_Mutation_p.P73S|FUT8_ENST00000394585.1_Missense_Mutation_p.P73S|FUT8_ENST00000557164.1_5'UTR|FUT8_ENST00000358307.2_5'UTR NM_004480.4|NM_178155.2 NP_004471.4|NP_835368.1 Q9BYC5 FUT8_HUMAN fucosyltransferase 8 (alpha (1,6) fucosyltransferase) 73 in utero embryonic development|L-fucose catabolic process|N-glycan processing|oligosaccharide biosynthetic process|post-translational protein modification|protein glycosylation in Golgi|protein N-linked glycosylation via asparagine Golgi cisterna membrane|integral to membrane glycoprotein 6-alpha-L-fucosyltransferase activity|SH3 domain binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2) 22 all cancers(60;0.00109)|OV - Ovarian serous cystadenocarcinoma(108;0.00242)|BRCA - Breast invasive adenocarcinoma(234;0.0114) ACCAGAAGGCCCTATTGATCA 0.373000 3 29 0 0 1 0 0 OR2T27 403239 broad.mit.edu 37 1 248814117 248814117 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:248814117G>A ENST00000344889.3 - 1 68 c.69C>T c.(67-69)ttC>ttT p.F23F NM_001001824.1 NP_001001824.1 Q8NH04 O2T27_HUMAN olfactory receptor, family 2, subfamily T, member 27 23 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|endometrium(2)|large_intestine(4)|lung(20)|skin(3)|stomach(1) 32 all_cancers(71;1.15e-05)|all_epithelial(71;5.29e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.089)|Lung NSC(105;0.0969)|Melanoma(84;0.199) all_cancers(173;0.237) OV - Ovarian serous cystadenocarcinoma(106;0.0265) GAAGCCAGGGGAAACGGGCGT 0.488000 29 78 0 0 1 0 0 YY1AP1 55249 broad.mit.edu 37 1 155629521 155629521 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:155629521G>A ENST00000368340.5 - 10 2642 c.2534C>T c.(2533-2535)tCc>tTc p.S845F YY1AP1_ENST00000407221.1_Missense_Mutation_p.S696F|MSTO1_ENST00000452804.2_Intron|MSTO1_ENST00000538143.1_Intron|YY1AP1_ENST00000359205.5_Missense_Mutation_p.S716F|YY1AP1_ENST00000361831.5_Missense_Mutation_p.S716F|YY1AP1_ENST00000347088.5_Missense_Mutation_p.S727F|YY1AP1_ENST00000311573.5_Missense_Mutation_p.S696F|YY1AP1_ENST00000368339.5_Missense_Mutation_p.S865F|YY1AP1_ENST00000535662.1_Missense_Mutation_p.S573F|YY1AP1_ENST00000404643.1_Missense_Mutation_p.S707F|YY1AP1_ENST00000295566.4_Missense_Mutation_p.S773F|YY1AP1_ENST00000355499.4_Missense_Mutation_p.S727F|YY1AP1_ENST00000368330.2_Missense_Mutation_p.S727F NM_001198904.1 NP_001185833.1 YY1 associated protein 1 central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(7)|ovary(2)|skin(2)|urinary_tract(2) 31 Hepatocellular(266;0.0997)|all_hematologic(923;0.145) ATCCCCAGGGGAAGAGTTGTT 0.502000 65 215 0 0 1 0 0 RUNDC3B 154661 broad.mit.edu 37 7 87323250 87323250 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:87323250G>A ENST00000338056.3 + 3 676 c.265G>A c.(265-267)Gct>Act p.A89T RUNDC3B_ENST00000394654.3_Intron|ABCB1_ENST00000265724.3_Intron|RUNDC3B_ENST00000493037.1_Intron NM_001134405.1|NM_138290.2 NP_001127877.1|NP_612147.1 Q96NL0 RUN3B_HUMAN RUN domain containing 3B 89 RUN. breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(2) 26 Esophageal squamous(14;0.00164) CAGATGGCTGGCTCATCTCCA 0.438000 14 212 0 0 1 0 0 PARVA 55742 broad.mit.edu 37 11 12535043 12535043 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:12535043C>T ENST00000538608.1 + 9 911 c.775C>T c.(775-777)Ccc>Tcc p.P259S PARVA_ENST00000334956.8_Intron|PARVA_ENST00000539723.1_Intron|PARVA_ENST00000550549.1_Intron Q9NVD7 PARVA_HUMAN parvin, alpha 0 cell adhesion|cell junction assembly|cilium morphogenesis actin cytoskeleton|cytosol|focal adhesion actin binding breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4) 11 Epithelial(150;0.00624) AGGGCTTTCCCCCTTGCCATC 0.557000 9 13 0 0 1 0 0 KCNMB4 27345 broad.mit.edu 37 12 70824287 70824287 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:70824287C>T ENST00000258111.4 + 3 946 c.487C>T c.(487-489)Cgc>Tgc p.R163C NM_014505.5 NP_055320.4 Q86W47 KCMB4_HUMAN potassium large conductance calcium-activated channel, subfamily M, beta member 4 163 detection of calcium ion|platelet activation|regulation of action potential in neuron|regulation of neurotransmitter secretion|regulation of vasoconstriction|synaptic transmission voltage-gated potassium channel complex calcium-activated potassium channel activity|protein binding kidney(1)|large_intestine(4)|lung(5) 10 Renal(347;0.236) Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00243)|STAD - Stomach adenocarcinoma(21;0.0118) GCTTCTGCATCGCACTCATGA 0.483000 85 130 0 0 1 0 0 OR4C13 283092 broad.mit.edu 37 11 49974880 49974880 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:49974880G>A ENST00000555099.1 + 1 938 c.906G>A c.(904-906)agG>agA p.R302R NM_001001955.2 NP_001001955.2 Q8NGP0 OR4CD_HUMAN olfactory receptor, family 4, subfamily C, member 13 302 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1) 43 TGTGTAGTAGGAAAGCTATTT 0.383000 15 28 0 0 1 0 0 UNC79 57578 broad.mit.edu 37 14 94069764 94069764 + Splice_Site SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr14:94069764C>T ENST00000553484.1 + 26 3908 c.3754_splice c.e26+1 p.P1252_splice UNC79_ENST00000393151.2_Splice_Site_p.R1252_splice|UNC79_ENST00000555664.1_Splice_Site_p.R1252_splice|UNC79_ENST00000256339.4_Splice_Site_p.R1075_splice Q9P2D8 UNC79_HUMAN unc-79 homolog (C. elegans) 1252 integral to membrane p.P1252S(1)|p.R1075*(1) breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4) 118 CTCCAAAATTCGTTGAGTATC 0.473000 16 45 0 0 1 0 0 CEACAM20 125931 broad.mit.edu 37 19 45010210 45010210 + RNA SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:45010210C>T ENST00000454753.1 - 0 2017 Q6UY09 CEA20_HUMAN carcinoembryonic antigen-related cell adhesion molecule 20 integral to membrane central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1) 15 Prostate(69;0.0352) ATCTCTGCTTCCATTAGACGG 0.403000 5 37 0 0 1 0 0 FAT2 2196 broad.mit.edu 37 5 150889680 150889680 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:150889680C>T ENST00000261800.5 - 21 11973 c.11961G>A c.(11959-11961)agG>agA p.R3987R CTC-251D13.1_ENST00000606930.1_RNA NM_001447.2 NP_001438.1 Q9NYQ8 FAT2_HUMAN FAT atypical cadherin 2 3987 EGF-like 2. epithelial cell migration|homophilic cell adhesion cell-cell adherens junction|integral to membrane|nucleus calcium ion binding NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1) 196 Medulloblastoma(196;0.0912)|all_hematologic(541;0.104) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) TACAGTTCTCCCTTCCTTGTT 0.532000 78 149 0 0 1 0 0 OR4K14 122740 broad.mit.edu 37 14 20482473 20482473 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr14:20482473C>T ENST00000305045.2 - 1 879 c.880G>A c.(880-882)Gag>Aag p.E294K NM_001004712.1 NP_001004712.1 Q8NGD5 OR4KE_HUMAN olfactory receptor, family 4, subfamily K, member 14 294 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(20)|skin(6) 37 all_cancers(95;0.00108) Epithelial(56;4.65e-07)|all cancers(55;2e-06) GBM - Glioblastoma multiforme(265;0.00124) GCTTTCATCTCCTCATTTCTC 0.418000 35 139 0 0 1 0 0 GJB4 127534 broad.mit.edu 37 1 35227147 35227147 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:35227147C>T ENST00000339480.1 + 2 662 c.292C>T c.(292-294)Cgc>Tgc p.R98C RP1-34M23.5_ENST00000542839.1_RNA NM_153212.2 NP_694944.1 Q9NTQ9 CXB4_HUMAN gap junction protein, beta 4, 30.3kDa 98 cell communication connexon complex|integral to membrane gap junction channel activity breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|skin(1) 16 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234) CGTGGCCTACCGCGAGGAACG 0.637000 29 42 0 0 1 0 0 TCHHL1 126637 broad.mit.edu 37 1 152059766 152059766 + Missense_Mutation SNP T T A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:152059766T>A ENST00000368806.1 - 3 456 c.392A>T c.(391-393)aAg>aTg p.K131M NM_001008536.1 NP_001008536.1 Q5QJ38 TCHL1_HUMAN trichohyalin-like 1 131 calcium ion binding breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1) 60 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.246) AAGCATCCTCTTTTCTTGAGT 0.488000 37 144 0 0 1 0 0 DHX8 1659 broad.mit.edu 37 17 41570382 41570382 + Silent SNP T T A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:41570382T>A ENST00000262415.3 + 6 909 c.837T>A c.(835-837)ggT>ggA p.G279G DHX8_ENST00000540306.1_Silent_p.G279G NM_004941.1 NP_004932.1 Q14562 DHX8_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 8 279 S1 motif. catalytic step 2 spliceosome ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1) 42 Breast(137;0.00908) BRCA - Breast invasive adenocarcinoma(366;0.08) TGCAGTTTGGTTGCTTTGTGC 0.463000 44 119 0 0 1 0 0 RP1 6101 broad.mit.edu 37 8 55534794 55534794 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:55534794G>A ENST00000220676.1 + 3 881 c.733G>A c.(733-735)Ggg>Agg p.G245R NM_006269.1 NP_006260.1 P56715 RP1_HUMAN retinitis pigmentosa 1 (autosomal dominant) 245 axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment microtubule binding NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2) 169 all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123) OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285) TAGATTACCAGGGATCTCTCA 0.438000 43 66 0 0 1 0 0 PCDHA3 56145 broad.mit.edu 37 5 140182697 140182697 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:140182697G>A ENST00000522353.2 + 1 1915 c.1915G>A c.(1915-1917)Gag>Aag p.E639K PCDHA3_ENST00000532566.2_Missense_Mutation_p.E639K|PCDHA2_ENST00000520672.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron NM_018906.2 NP_061729.1 NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1) 95 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGCCCTGGACGAGGTGGACGC 0.667000 12 146 0 0 1 0 0 GCH1 2643 broad.mit.edu 37 14 55312531 55312531 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr14:55312531G>A ENST00000491895.2 - 5 769 c.581C>T c.(580-582)aCg>aTg p.T194M GCH1_ENST00000543643.2_Missense_Mutation_p.T194M|GCH1_ENST00000536224.2_Missense_Mutation_p.T194M|GCH1_ENST00000395514.1_Missense_Mutation_p.T194M|GCH1_ENST00000254299.4_5'UTR NM_000161.2 NP_000152.1 P30793 GCH1_HUMAN GTP cyclohydrolase 1 194 dopamine biosynthetic process|GTP catabolic process|neuromuscular process controlling posture|nitric oxide biosynthetic process|positive regulation of nitric-oxide synthase activity|protein homooligomerization|response to interferon-gamma|response to lipopolysaccharide|response to pain|response to tumor necrosis factor|tetrahydrobiopterin biosynthetic process|tetrahydrofolate biosynthetic process cytoplasmic vesicle|cytosol|nuclear membrane|protein complex GTP binding|GTP cyclohydrolase I activity|protein homodimerization activity|zinc ion binding endometrium(2)|lung(7)|skin(2) 11 CAAGGCTTCCGTGATTGCTAC 0.473000 25 79 0 0 1 0 0 ALK 238 broad.mit.edu 37 2 29917782 29917782 + Missense_Mutation SNP C C T rs56077855 TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:29917782C>T ENST00000389048.3 - 3 1792 c.886G>A c.(886-888)Gag>Aag p.E296K ALK_ENST00000431873.1_Intron NM_004304.4 NP_004295.2 Q9UM73 ALK_HUMAN anaplastic lymphoma receptor tyrosine kinase 296 MAM 1. E -> Q (in dbSNP:rs56077855). protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9) NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2) 340 Acute lymphoblastic leukemia(172;0.155) Adenosine triphosphate(DB00171) GAGGCCTCCTCGGAGGGGATG 0.617000 """T, Mis, A""" """NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22""" """ALCL, NSCLC, Neuroblastoma""" neuroblastoma Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome 59 140 0 0 1 0 0 TESK1 7016 broad.mit.edu 37 9 35608907 35608907 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:35608907C>T ENST00000336395.5 + 10 1299 c.1049C>T c.(1048-1050)cCc>cTc p.P350L TESK1_ENST00000498522.1_3'UTR NM_006285.2 NP_006276.2 Q15569 TESK1_HUMAN testis-specific kinase 1 350 cell junction assembly|spermatogenesis cytosol ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 27 Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194) AGGCCAGATCCCCGGCTTTCC 0.577000 5 217 0 0 1 0 0 CALCRL 10203 broad.mit.edu 37 2 188247981 188247981 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:188247981C>T ENST00000409998.1 - 6 884 c.103G>A c.(103-105)Gga>Aga p.G35R CALCRL_ENST00000392370.3_Missense_Mutation_p.G35R|AC007319.1_ENST00000412276.1_RNA|CALCRL_ENST00000410068.1_Missense_Mutation_p.G35R|AC007319.1_ENST00000453517.1_RNA Q16602 CALRL_HUMAN calcitonin receptor-like 35 integral to plasma membrane endometrium(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(1) 32 OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(96;0.227) CTAGTAACTCCCAACTGAATT 0.353000 26 62 0 0 1 0 0 HGD 3081 broad.mit.edu 37 3 120394663 120394663 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:120394663G>A ENST00000283871.5 - 2 522 c.63C>T c.(61-63)tgC>tgT p.C21C HGD_ENST00000488183.1_5'UTR NM_000187.3 NP_000178.2 Q93099 HGD_HUMAN homogentisate 1,2-dioxygenase 21 L-phenylalanine catabolic process|tyrosine catabolic process cytosol homogentisate 1,2-dioxygenase activity|metal ion binding cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2) 25 GBM - Glioblastoma multiforme(114;0.158) GGGAACCTGGGCAGCGAGGAT 0.458000 46 100 0 0 1 0 0 OVGP1 5016 broad.mit.edu 37 1 111957478 111957478 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:111957478G>A ENST00000369732.3 - 11 1700 c.1645C>T c.(1645-1647)Cct>Tct p.P549S NM_002557.3 NP_002548.3 Q12889 OVGP1_HUMAN oviductal glycoprotein 1, 120kDa 549 chitin catabolic process|female pregnancy|single fertilization transport vesicle cation binding|chitinase activity NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1) 39 all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302) Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14) AAATGGACAGGGGTCATAGTC 0.547000 67 120 0 0 1 0 0 VWF 7450 broad.mit.edu 37 12 6061606 6061606 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:6061606C>T ENST00000261405.5 - 49 8320 c.8066G>A c.(8065-8067)aGg>aAg p.R2689K NM_000552.3 NP_000543.2 P04275 VWF_HUMAN von Willebrand factor 2689 blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5) 129 Antihemophilic Factor(DB00025) GCCTGTGACCCTCTTCTCCCA 0.502000 26 53 0 0 1 0 0 GLYAT 10249 broad.mit.edu 37 11 58477473 58477473 + Nonsense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:58477473C>T ENST00000344743.3 - 6 798 c.657G>A c.(655-657)tgG>tgA p.W219* GLYAT_ENST00000529732.1_Nonsense_Mutation_p.W219* NM_201648.2 NP_964011.2 Q6IB77 GLYAT_HUMAN glycine-N-acyltransferase 219 acyl-CoA metabolic process|response to toxin|xenobiotic metabolic process mitochondrial matrix glycine N-acyltransferase activity|glycine N-benzoyltransferase activity NS(1)|autonomic_ganglia(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1) 16 Breast(21;0.0044)|all_epithelial(135;0.0157) Glycine(DB00145) CCATTAGATCCCAGCACACAG 0.552000 9 129 0 0 1 0 0 OSBPL5 114879 broad.mit.edu 37 11 3125491 3125491 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:3125491G>A ENST00000263650.7 - 10 1335 c.1176C>T c.(1174-1176)ttC>ttT p.F392F OSBPL5_ENST00000542243.1_Intron|OSBPL5_ENST00000348039.5_Silent_p.F324F|OSBPL5_ENST00000389989.3_Silent_p.F324F|OSBPL5_ENST00000525498.1_Silent_p.F303F NM_020896.3 NP_065947.1 Q9H0X9 OSBL5_HUMAN oxysterol binding protein-like 5 392 cholesterol metabolic process|cholesterol transport|Golgi to plasma membrane transport cytosol oxysterol binding|protein binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1) 25 all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681) BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207) GCTCCAGTACGAACGTGGGTA 0.622000 21 35 0 0 1 0 0 TNFRSF10B 8795 broad.mit.edu 37 8 22884720 22884720 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:22884720C>T ENST00000276431.4 - 7 1146 c.862G>A c.(862-864)Gaa>Aaa p.E288K TNFRSF10B_ENST00000347739.3_Missense_Mutation_p.E259K|TNFRSF10B_ENST00000542226.1_Missense_Mutation_p.E108K NM_003842.4|NM_147187.2 NP_003833.4|NP_671716.2 O14763 TR10B_HUMAN tumor necrosis factor receptor superfamily, member 10b 288 activation of NF-kappaB-inducing kinase activity|activation of pro-apoptotic gene products|cell surface receptor linked signaling pathway|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|positive regulation of I-kappaB kinase/NF-kappaB cascade plasma membrane caspase activator activity|receptor activity|TRAIL binding NS(1)|endometrium(2)|large_intestine(7)|liver(1)|lung(3)|skin(1) 15 Prostate(55;0.0421)|Breast(100;0.067) Colorectal(74;0.0179)|COAD - Colon adenocarcinoma(73;0.0703) ACTTCCATTTCCTGCTCAGGG 0.542000 28 38 0 0 1 0 0 GPR45 11250 broad.mit.edu 37 2 105859145 105859145 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:105859145C>T ENST00000258456.1 + 1 946 c.830C>T c.(829-831)tCc>tTc p.S277F NM_007227.3 NP_009158.3 Q9Y5Y3 GPR45_HUMAN G protein-coupled receptor 45 277 integral to membrane|plasma membrane G-protein coupled receptor activity|protein binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1) 28 GTGGGCTTCTCCCTCTGCTGG 0.622000 20 325 0 0 1 0 0 OR2M2 391194 broad.mit.edu 37 1 248343330 248343330 + Missense_Mutation SNP C C A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:248343330C>A ENST00000359682.2 + 1 43 c.43C>A c.(43-45)Ctt>Att p.L15I NM_001004688.1 NP_001004688.1 Q96R28 OR2M2_HUMAN olfactory receptor, family 2, subfamily M, member 2 15 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3) 70 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0245) CTTCATCCTCCTTGGAATCTT 0.433000 113 263 1.85156e-62 1.87577e-62 1 1 0 VN1R4 317703 broad.mit.edu 37 19 53770894 53770894 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:53770894C>T ENST00000311170.4 - 1 78 c.25G>A c.(25-27)Gga>Aga p.G9R NM_173857.2 NP_776256.2 Q7Z5H5 VN1R4_HUMAN vomeronasal 1 receptor 4 9 response to pheromone actin cytoskeleton|cytoplasm|integral to membrane|plasma membrane pheromone receptor activity central_nervous_system(1)|large_intestine(4)|lung(10)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 22 GBM - Glioblastoma multiforme(134;0.00294) AAGATCATTCCCACTGCCACA 0.522000 HNSCC(26;0.072) 6 86 0 0 1 0 0 HECTD4 283450 broad.mit.edu 37 12 112622206 112622206 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:112622206G>A ENST00000550722.1 - 61 10521 c.10126C>T c.(10126-10128)Ccg>Tcg p.P3376S HECTD4_ENST00000377560.5_Missense_Mutation_p.P3350S|HECTD4_ENST00000430131.2_Missense_Mutation_p.P3100S NM_001109662.3 NP_001103132.3 HECT domain containing E3 ubiquitin protein ligase 4 AACAGGCCCGGAGGGATGGGC 0.692000 11 19 0 0 1 0 0 CIT 11113 broad.mit.edu 37 12 120180230 120180230 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:120180230G>A ENST00000392521.2 - 24 2999 c.2944C>T c.(2944-2946)Cgt>Tgt p.R982C CIT_ENST00000537607.1_5'UTR|CIT_ENST00000261833.7_Missense_Mutation_p.R940C NM_001206999.1 NP_001193928.1 O14578 CTRO_HUMAN citron (rho-interacting, serine/threonine kinase 21) 940 intracellular signal transduction ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6) 86 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) Myeloproliferative disorder(1001;0.0255) BRCA - Breast invasive adenocarcinoma(302;0.211) CAGCTGTTACGAAGAGCATCA 0.343000 31 52 0 0 1 0 0 SCN1A 6323 broad.mit.edu 37 2 166901786 166901786 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:166901786C>T ENST00000423058.2 - 10 1446 c.1429G>A c.(1429-1431)Ggc>Agc p.G477S AC010127.3_ENST00000599041.1_RNA|SCN1A_ENST00000409050.1_Missense_Mutation_p.G477S|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000375405.3_Missense_Mutation_p.G477S|SCN1A_ENST00000303395.4_Missense_Mutation_p.G477S|AC010127.3_ENST00000595268.1_RNA NM_001165963.1|NM_001202435.1 NP_001159435.1|NP_001189364.1 P35498 SCN1A_HUMAN sodium channel, voltage-gated, type I, alpha subunit 477 voltage-gated sodium channel complex voltage-gated sodium channel activity NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1) 200 Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909) GAGAGCCTGCCTGCTGCACTG 0.458000 75 132 0 0 1 0 0 UPB1 51733 broad.mit.edu 37 22 24898476 24898476 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr22:24898476C>T ENST00000382760.2 + 4 698 c.536C>T c.(535-537)tCc>tTc p.S179F UPB1_ENST00000413389.2_Intron|UPB1_ENST00000326010.5_Intron Q9UBR1 BUP1_HUMAN ureidopropionase, beta 0 CN hydrolase. pyrimidine base metabolic process|pyrimidine nucleoside catabolic process cytosol beta-ureidopropionase activity|metal ion binding endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 22 Colorectal(2;0.0339) gtaattccctccagctggtct 0.537000 40 106 0 0 1 0 0 LPO 4025 broad.mit.edu 37 17 56329667 56329667 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:56329667C>T ENST00000262290.4 + 8 1221 c.905C>T c.(904-906)tCc>tTc p.S302F LPO_ENST00000421678.2_Missense_Mutation_p.S219F|LPO_ENST00000543544.1_Missense_Mutation_p.S243F|LPO_ENST00000582328.1_Missense_Mutation_p.S219F NM_006151.2 NP_006142.1 P22079 PERL_HUMAN lactoperoxidase 302 hydrogen peroxide catabolic process extracellular space heme binding|peroxidase activity breast(5)|cervix(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 30 GCTCTGACCTCCTTCCTGGAT 0.622000 23 72 0 0 1 0 0 B3GALT4 8705 broad.mit.edu 37 6 33245408 33245408 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:33245408C>T ENST00000451237.1 + 1 492 c.212C>T c.(211-213)cCc>cTc p.P71L NM_003782.3 NP_003773.1 O96024 B3GT4_HUMAN UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 4 71 protein glycosylation Golgi membrane|integral to membrane ganglioside galactosyltransferase activity|UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|soft_tissue(1)|urinary_tract(2) 13 GGGGCCCCTCCCTTCCTGCTC 0.721000 62 215 0 0 1 0 0 STK11IP 114790 broad.mit.edu 37 2 220466127 220466127 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:220466127C>T ENST00000456909.1 + 3 322 c.232C>T c.(232-234)Ctc>Ttc p.L78F STK11IP_ENST00000295641.10_Missense_Mutation_p.L89F|STK11IP_ENST00000459692.1_3'UTR Q8N1F8 S11IP_HUMAN serine/threonine kinase 11 interacting protein 89 protein localization cytoplasm protein kinase binding breast(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|urinary_tract(1) 23 Renal(207;0.0183) Epithelial(149;2.69e-07)|all cancers(144;5.91e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) GCTTCAGTTTCTCTTCGATGT 0.547000 26 56 0 0 1 0 0 BCR 613 broad.mit.edu 37 22 23656883 23656883 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr22:23656883C>T ENST00000305877.8 + 22 4459 c.3708C>T c.(3706-3708)tcC>tcT p.S1236S BCR_ENST00000359540.3_Silent_p.S1192S|BCR_ENST00000436990.2_3'UTR NM_004327.3 NP_004318.3 P11274 BCR_HUMAN breakpoint cluster region 1236 Rho-GAP. regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol ATP binding|GTPase activator activity|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity BCR/JAK2(6) central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1) 35 ACAGCTGGTCCTTGGAGGTCA 0.642000 T """ABL1, FGFR1, JAK2 """ """CML, ALL, AML""" 9 62 0 0 1 0 0 PHF3 23469 broad.mit.edu 37 6 64401765 64401765 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:64401765G>A ENST00000262043.3 + 5 2668 c.2328G>A c.(2326-2328)aaG>aaA p.K776K PHF3_ENST00000393387.1_Silent_p.K776K Q92576 PHF3_HUMAN PHD finger protein 3 776 multicellular organismal development|transcription, DNA-dependent nucleus zinc ion binding breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6) 75 all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121) LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148) AAGACAAAAAGACTGAAATAC 0.378000 38 87 0 0 1 0 0 MYO19 80179 broad.mit.edu 37 17 34871706 34871706 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:34871706G>A ENST00000431794.3 - 7 1064 c.542C>T c.(541-543)gCt>gTt p.A181V MYO19_ENST00000268852.9_Missense_Mutation_p.A181V|MYO19_ENST00000544606.1_Missense_Mutation_p.A47V|MYO19_ENST00000586007.1_Missense_Mutation_p.A181V NM_001163735.1 NP_001157207.1 Q96H55 MYO19_HUMAN myosin XIX 181 Myosin head-like. mitochondrial outer membrane|myosin complex actin binding|ATP binding|motor activity endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|urinary_tract(1) 20 Breast(25;0.00957)|Ovarian(249;0.17) Kidney(155;0.104) UCEC - Uterine corpus endometrioid carcinoma (308;0.0185) CTCACCAAAAGCTTCCATGAC 0.517000 19 46 0 0 1 0 0 TRIML2 205860 broad.mit.edu 37 4 189020257 189020257 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:189020257G>A ENST00000512729.1 - 4 777 c.403C>T c.(403-405)Cgc>Tgc p.R135C TRIML2_ENST00000326754.3_Missense_Mutation_p.R135C|TRIML2_ENST00000536972.1_Missense_Mutation_p.R185C NM_173553.1 NP_775824.1 Q8N7C3 TRIMM_HUMAN tripartite motif family-like 2 135 ligase activity central_nervous_system(2)|kidney(1)|large_intestine(7)|lung(25)|prostate(3)|urinary_tract(1) 39 all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513) OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163) AGGAGGCTGCGGACCTGTTCA 0.483000 33 72 0 0 1 0 0 ENAM 10117 broad.mit.edu 37 4 71509445 71509445 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:71509445C>T ENST00000396073.3 + 9 2583 c.2302C>T c.(2302-2304)Cac>Tac p.H768Y ENAM_ENST00000472903.1_Intron NM_031889.2 NP_114095.2 Q9NRM1 ENAM_HUMAN enamelin 768 bone mineralization|odontogenesis proteinaceous extracellular matrix structural constituent of tooth enamel haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2) 6 Lung(101;0.235) TTCCTGGGACCACAGGATACA 0.478000 33 60 0 0 1 0 0 GNA11 2767 broad.mit.edu 37 19 3113473 3113473 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:3113473C>T ENST00000078429.4 + 3 709 c.467C>T c.(466-468)tCt>tTt p.S156F NM_002067.2 NP_002058.2 P29992 GNA11_HUMAN guanine nucleotide binding protein (G protein), alpha 11 (Gq class) 156 activation of phospholipase C activity by dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation|regulation of action potential cytoplasm|heterotrimeric G-protein complex G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity endometrium(2)|eye(132)|kidney(1)|large_intestine(2)|lung(1)|meninges(5)|ovary(1)|prostate(1)|skin(16) 161 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.79e-05)|OV - Ovarian serous cystadenocarcinoma(105;2.68e-113)|Epithelial(107;1.22e-111)|all cancers(105;5.78e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00141)|STAD - Stomach adenocarcinoma(1328;0.181) CTCTCCGACTCTGCCAAGTAG 0.672000 Mis uveal melanoma 10 28 0 0 1 0 0 KMT2B 9757 broad.mit.edu 37 19 36216629 36216629 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:36216629C>T ENST00000420124.1 + 13 3795 c.3795C>T c.(3793-3795)ctC>ctT p.L1265L KMT2B_ENST00000607650.1_RNA|WBP7_ENST00000222270.7_Silent_p.L1265L AACAGCACCTCCTGGAGTGCG 0.662000 10 17 0 0 1 0 0 SKAP1 8631 broad.mit.edu 37 17 46214690 46214690 + Missense_Mutation SNP T T A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:46214690T>A ENST00000336915.6 - 12 1057 c.988A>T c.(988-990)Atg>Ttg p.M330L SKAP1_ENST00000584924.1_Missense_Mutation_p.M330L NM_001075099.1|NM_003726.3 NP_001068567.1|NP_003717.3 Q86WV1 SKAP1_HUMAN src kinase associated phosphoprotein 1 330 SH3. positive regulation of transcription from RNA polymerase II promoter|T cell receptor signaling pathway cytoplasm|nucleus|plasma membrane antigen binding|protein kinase binding|SH2 domain binding large_intestine(1)|lung(10)|prostate(2)|skin(4)|urinary_tract(1) 18 CAGCCATACATGTTATACTCC 0.438000 30 57 0 0 1 0 0 PTCHD4 442213 broad.mit.edu 37 6 47976401 47976401 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:47976401G>A ENST00000543600.1 - 2 864 c.825C>T c.(823-825)tcC>tcT p.S275S PTCHD4_ENST00000339488.4_Silent_p.S292S Q6ZW05 CF138_HUMAN patched domain containing 4 292 SSD. integral to membrane hedgehog receptor activity CCAGCAGGGTGGAGTTGTACT 0.507000 11 29 0 0 1 0 0 ARHGAP35 2909 broad.mit.edu 37 19 47503635 47503635 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:47503635C>T ENST00000404338.3 + 6 4190 c.4190C>T c.(4189-4191)tCc>tTc p.S1397F NM_004491.4 NP_004482.4 Q9NRY4 RHG35_HUMAN Rho GTPase activating protein 35 1397 Rho-GAP. axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent cytosol DNA binding|Rho GTPase activator activity|transcription corepressor activity GAGAACCTCTCCATCTGCTTC 0.552000 119 245 0 0 1 0 0 DRC1 92749 broad.mit.edu 37 2 26652495 26652495 + Splice_Site SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:26652495G>A ENST00000288710.2 + 5 614 c.e5-1 NM_145038.2 NP_659475.2 dynein regulatory complex subunit 1 homolog (Chlamydomonas) CTCTTTTCTAGGAGTTAAAAA 0.443000 47 86 0 0 1 0 0 ITIH6 347365 broad.mit.edu 37 X 54783710 54783710 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chrX:54783710G>A ENST00000218436.6 - 8 2826 c.2797C>T c.(2797-2799)Ccc>Tcc p.P933S NM_198510.2 NP_940912.1 Q6UXX5 ITH5L_HUMAN inter-alpha-trypsin inhibitor heavy chain family, member 6 933 Pro-rich. hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity GGCAGAGTGGGAGTAAAGGGC 0.567000 14 18 0 0 1 0 0 IGKV1-16 28938 broad.mit.edu 37 2 89399429 89399429 + RNA SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:89399429C>T ENST00000479981.1 - 0 300 AGAGTGAAATCTGTCCCAGAT 0.488000 81 193 0 0 1 0 0 CYP2S1 29785 broad.mit.edu 37 19 41703728 41703728 + Missense_Mutation SNP T T A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:41703728T>A ENST00000310054.4 + 3 604 c.388T>A c.(388-390)Ttt>Att p.F130I CYP2S1_ENST00000542619.1_Intron NM_030622.6 NP_085125.1 Q96SQ9 CP2S1_HUMAN cytochrome P450, family 2, subfamily S, polypeptide 1 130 xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(2) 14 GCTGAGGAAGTTTACCATGCT 0.627000 34 63 0 0 1 0 0 ZNF646 9726 broad.mit.edu 37 16 31091377 31091377 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr16:31091377C>T ENST00000394979.2 + 1 4155 c.3732C>T c.(3730-3732)tcC>tcT p.S1244S ZNF646_ENST00000300850.5_Silent_p.S1244S O15015 ZN646_HUMAN zinc finger protein 646 1244 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3) 49 ACCTCATGTCCCTCAAGAACC 0.637000 24 74 0 0 1 0 0 LGI2 55203 broad.mit.edu 37 4 25005304 25005304 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:25005304G>A ENST00000382114.4 - 8 1592 c.1407C>T c.(1405-1407)ccC>ccT p.P469P NM_018176.3 NP_060646.2 Q8N0V4 LGI2_HUMAN leucine-rich repeat LGI family, member 2 469 extracellular region breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(2) 33 Breast(46;0.173) TAAAAGAAAAGGGCTGCAGGG 0.488000 6 259 0 0 1 0 0 PRR23C 389152 broad.mit.edu 37 3 138762974 138762974 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:138762974G>A ENST00000413199.1 - 1 760 c.489C>T c.(487-489)ttC>ttT p.F163F MRPS22_ENST00000495075.1_Intron|PRR23C_ENST00000502927.2_Silent_p.F163F NM_001134657.1 NP_001128129.1 Q6ZRP0 PR23C_HUMAN proline rich 23C 163 breast(2)|lung(7)|skin(2) 11 AGAGCTCCGGGAACTCAGAGT 0.657000 9 22 0 0 1 0 0 PDGFA 5154 broad.mit.edu 37 7 540868 540868 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:540868C>T ENST00000402802.3 - 5 872 c.465G>A c.(463-465)gtG>gtA p.V155V PDGFA_ENST00000354513.5_Silent_p.V155V NM_033023.4 NP_148983.1 P04085 PDGFA_HUMAN platelet-derived growth factor alpha polypeptide 155 actin cytoskeleton organization|angiogenesis|cell projection assembly|embryo development|hair follicle development|lung alveolus development|negative chemotaxis|negative regulation of phosphatidylinositol biosynthetic process|negative regulation of platelet activation|organ morphogenesis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of DNA replication|positive regulation of ERK1 and ERK2 cascade|positive regulation of fibroblast proliferation|positive regulation of MAP kinase activity|positive regulation of mesenchymal cell proliferation|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein autophosphorylation|positive regulation of protein kinase B signaling cascade|regulation of actin cytoskeleton organization|regulation of branching involved in salivary gland morphogenesis by epithelial-mesenchymal signaling|regulation of peptidyl-tyrosine phosphorylation|regulation of smooth muscle cell migration|skin development cell surface|endoplasmic reticulum lumen|extracellular space|Golgi membrane|microvillus|platelet alpha granule lumen collagen binding|eukaryotic cell surface binding|growth factor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein heterodimerization activity|protein homodimerization activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 16 Ovarian(82;0.0112) UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|Epithelial(4;1.1e-17)|OV - Ovarian serous cystadenocarcinoma(56;1.7e-17)|all cancers(6;4.89e-15) TGACGTATTCCACCTTGGCCA 0.567000 115 229 0 0 1 0 0 OR6V1 346517 broad.mit.edu 37 7 142750017 142750017 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:142750017G>A ENST00000418316.1 + 1 601 c.580G>A c.(580-582)Gaa>Aaa p.E194K NM_001001667.1 NP_001001667.1 Q8N148 OR6V1_HUMAN olfactory receptor, family 6, subfamily V, member 1 194 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|upper_aerodigestive_tract(1) 20 Melanoma(164;0.059) TCGCCTGTTGGAATTCTGGGA 0.522000 136 296 0 0 1 0 0 SLC7A13 157724 broad.mit.edu 37 8 87229736 87229736 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:87229736C>T ENST00000297524.3 - 3 1245 c.1142G>A c.(1141-1143)cGg>cAg p.R381Q SLC7A13_ENST00000419776.2_Missense_Mutation_p.R372Q NM_138817.2 NP_620172.2 Q8TCU3 S7A13_HUMAN solute carrier family 7 (anionic amino acid transporter), member 13 381 integral to membrane amino acid transmembrane transporter activity breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(3) 45 CTGGTATCTCCGCCTTAGTAT 0.289000 6 46 0 0 1 0 0 C3orf30 152405 broad.mit.edu 37 3 118870112 118870112 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:118870112C>T ENST00000295622.1 + 3 1624 c.1584C>T c.(1582-1584)ccC>ccT p.P528P RP11-484M3.5_ENST00000490594.1_Intron NM_152539.2 NP_689752.2 Q96M34 CC030_HUMAN chromosome 3 open reading frame 30 528 p.P528P(1) NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(20)|ovary(2)|prostate(1)|urinary_tract(1) 34 GBM - Glioblastoma multiforme(114;0.222) CAGAGGACCCCCTGAATTTTA 0.368000 83 191 0 0 1 0 0 MTMR8 55613 broad.mit.edu 37 X 63551507 63551507 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chrX:63551507G>A ENST00000374852.3 - 11 1349 c.1282C>T c.(1282-1284)Cat>Tat p.H428Y MTMR8_ENST00000453546.1_Intron|MTMR8_ENST00000478487.1_5'UTR NM_017677.3 NP_060147.2 Q96EF0 MTMR8_HUMAN myotubularin related protein 8 428 Myotubularin phosphatase. nuclear envelope protein tyrosine phosphatase activity p.0?(1) breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|skin(3) 37 ACATGGTCATGAATCTCCAGC 0.433000 17 10 0 0 1 0 0 KCNJ6 3763 broad.mit.edu 37 21 38997645 38997645 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr21:38997645G>A ENST00000400482.3 - 4 1677 c.1088C>T c.(1087-1089)cCa>cTa p.P363L KCNJ6_ENST00000288309.6_Missense_Mutation_p.P363L NM_002240.3 NP_002231.1 P48051 IRK6_HUMAN potassium inwardly-rectifying channel, subfamily J, member 6 363 synaptic transmission Golgi apparatus|voltage-gated potassium channel complex G-protein activated inward rectifier potassium channel activity|protein binding breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 22 Halothane(DB01159) ACTAAGGGATGGGGTGCTGGT 0.552000 44 113 0 0 1 0 0 OR2L13 284521 broad.mit.edu 37 1 248263091 248263091 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:248263091G>A ENST00000366478.2 + 3 751 c.414G>A c.(412-414)atG>atA p.M138I OR2L13_ENST00000358120.2_Missense_Mutation_p.M138I NM_175911.2 NP_787107.1 Q8N349 OR2LD_HUMAN olfactory receptor, family 2, subfamily L, member 13 138 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity|protein binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(32)|ovary(1)|skin(3)|upper_aerodigestive_tract(1) 59 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0132) TGAGTAAAATGATGTGTGTGA 0.502000 117 311 0 0 1 0 0 HSPBAP1 79663 broad.mit.edu 37 3 122474256 122474256 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:122474256G>A ENST00000383659.1 - 6 796 c.674C>T c.(673-675)tCc>tTc p.S225F HSPBAP1_ENST00000465044.1_5'UTR|HSPBAP1_ENST00000306103.2_Missense_Mutation_p.P198S Q96EW2 HBAP1_HUMAN HSPB (heat shock 27kDa) associated protein 1 0 JmjC. cytoplasm breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|urinary_tract(1) 16 GBM - Glioblastoma multiforme(114;0.0531) GTATCTTCAGGAGGAAAGAGA 0.333000 14 41 0 0 1 0 0 MAN1A1 4121 broad.mit.edu 37 6 119510870 119510870 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:119510870G>A ENST00000368468.3 - 10 1946 c.1505C>T c.(1504-1506)gCt>gTt p.A502V NM_005907.3 NP_005898.2 P33908 MA1A1_HUMAN mannosidase, alpha, class 1A, member 1 502 post-translational protein modification|protein N-linked glycosylation via asparagine endoplasmic reticulum|ER-Golgi intermediate compartment|Golgi membrane|integral to membrane|membrane fraction calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|skin(3) 24 all_epithelial(87;0.173) OV - Ovarian serous cystadenocarcinoma(136;0.0612)|GBM - Glioblastoma multiforme(226;0.0702)|all cancers(137;0.115) GGCAATTTCAGCCCCGAGTTC 0.493000 112 53 0 0 1 0 0 ATP13A4 84239 broad.mit.edu 37 3 193166119 193166119 + Splice_Site SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:193166119C>T ENST00000342695.4 - 18 2350 c.2027_splice c.e18-1 p.R676_splice ATP13A4_ENST00000392443.3_Splice_Site_p.R657_splice NM_032279.2 NP_115655.2 Q4VNC1 AT134_HUMAN ATPase type 13A4 676 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2) 71 all_cancers(143;1.76e-08)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;0.000109) CTACCGTCTCCCTGAAAATAC 0.433000 15 108 0 0 1 0 0 FAM71A 149647 broad.mit.edu 37 1 212799914 212799914 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:212799914C>T ENST00000294829.3 + 1 2126 c.1695C>T c.(1693-1695)atC>atT p.I565I RP11-338C15.5_ENST00000427949.1_RNA NM_153606.3 NP_705834.2 Q8IYT1 FA71A_HUMAN family with sequence similarity 71, member A 565 breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(7)|liver(1)|lung(12)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 OV - Ovarian serous cystadenocarcinoma(81;0.00631)|all cancers(67;0.00981)|GBM - Glioblastoma multiforme(131;0.0715)|Epithelial(68;0.094) ACGTGGCCATCGCCGAGACAG 0.542000 39 139 0 0 1 0 0 GOLGA2P9 440518 broad.mit.edu 37 19 22785429 22785429 + RNA SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:22785429G>A ENST00000600260.1 + 0 1518 NR_033899.1 GCTGATGCAGGAAAAGGTGGA 0.582000 30 71 0 0 1 0 0 FOXF2 2295 broad.mit.edu 37 6 1394963 1394963 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:1394963C>T ENST00000259806.1 + 2 1318 c.1204C>T c.(1204-1206)Cca>Tca p.P402S NM_001452.1 NP_001443.1 Q12947 FOXF2_HUMAN forkhead box F2 402 epithelial to mesenchymal transition|genitalia development|palate development|pattern specification process|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding large_intestine(2)|lung(5)|prostate(1) 8 Ovarian(93;0.0733) all_lung(73;0.0713)|all_hematologic(90;0.0895) OV - Ovarian serous cystadenocarcinoma(45;0.095) TCACTCTACTCCAGTGTGTGA 0.458000 61 192 0 0 1 0 0 UBR4 23352 broad.mit.edu 37 1 19473362 19473362 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:19473362G>A ENST00000375267.2 - 52 7765 c.7762C>T c.(7762-7764)Ctt>Ttt p.L2588F UBR4_ENST00000375226.2_Missense_Mutation_p.L2599F|UBR4_ENST00000375254.3_Missense_Mutation_p.L2588F|UBR4_ENST00000375217.2_Missense_Mutation_p.L2588F Q5T4S7 UBR4_HUMAN ubiquitin protein ligase E3 component n-recognin 4 2588 interspecies interaction between organisms cytoplasm|cytoskeleton|integral to membrane|nucleus calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6) 171 Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256) UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816) AAGTGGACAAGGTTGTTGGGG 0.522000 86 218 0 0 1 0 0 WFS1 7466 broad.mit.edu 37 4 6303492 6303492 + Missense_Mutation SNP T T A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:6303492T>A ENST00000226760.1 + 8 2140 c.1970T>A c.(1969-1971)aTg>aAg p.M657K WFS1_ENST00000503569.1_Missense_Mutation_p.M657K NM_001145853.1|NM_006005.3 NP_001139325.1|NP_005996.2 O76024 WFS1_HUMAN Wolfram syndrome 1 (wolframin) 657 endoplasmic reticulum calcium ion homeostasis|endoplasmic reticulum unfolded protein response|ER overload response|ER-associated protein catabolic process|glucose homeostasis|kidney development|negative regulation of neuron apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|polyubiquitinated misfolded protein transport|positive regulation of calcium ion transport|positive regulation of growth|positive regulation of protein ubiquitination|positive regulation of proteolysis|protein stabilization|renal water homeostasis|sensory perception of sound|visual perception dendrite|integral to endoplasmic reticulum membrane activating transcription factor binding|ATPase binding|transporter activity|ubiquitin protein ligase binding central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1) 21 Colorectal(103;0.0512) TCAGAGGGCATGAAGGTCTAC 0.607000 8 315 0 0 1 0 0 JAKMIP3 282973 broad.mit.edu 37 10 133930921 133930921 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:133930921C>T ENST00000298622.4 + 2 614 c.476C>T c.(475-477)tCc>tTc p.S159F NM_001105521.2 NP_001098991.1 Janus kinase and microtubule interacting protein 3 breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2) 31 all_cancers(35;5.63e-09)|all_epithelial(44;9.25e-07)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|Colorectal(31;0.0721)|all_neural(114;0.0726)|Breast(234;0.0949)|Glioma(114;0.172)|Melanoma(40;0.175) OV - Ovarian serous cystadenocarcinoma(35;0.000104)|Epithelial(32;0.000142)|all cancers(32;0.000185)|BRCA - Breast invasive adenocarcinoma(275;0.224) CAGGAGATCTCCGAGCTCAAG 0.622000 4 90 0 0 1 0 0 LYPD4 147719 broad.mit.edu 37 19 42343039 42343039 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:42343039G>A ENST00000330743.3 - 3 1338 c.127C>T c.(127-129)Cat>Tat p.H43Y LYPD4_ENST00000343055.4_Intron|LYPD4_ENST00000601246.1_Intron NM_173506.4 NP_775777.3 Q6UWN0 LYPD4_HUMAN LY6/PLAUR domain containing 4 43 anchored to membrane|plasma membrane breast(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(2) 12 TTCCAGTTATGGAAAGCAACA 0.488000 16 186 0 0 1 0 0 CHIT1 1118 broad.mit.edu 37 1 203188804 203188804 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:203188804C>T ENST00000367229.1 - 8 937 c.903G>A c.(901-903)ctG>ctA p.L301L CHIT1_ENST00000255427.3_Silent_p.L282L|CHIT1_ENST00000535569.1_Silent_p.L292L|CHIT1_ENST00000484834.1_5'UTR NM_001270509.1|NM_003465.2 NP_001257438.1|NP_003456.1 Q13231 CHIT1_HUMAN chitinase 1 (chitotriosidase) 301 chitin catabolic process|immune response|response to bacterium extracellular space|lysosome cation binding|chitin binding|endochitinase activity central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|stomach(2) 27 CATAGTAGGCCAGCATCCCTC 0.582000 93 153 0 0 1 0 0 TMEM8A 58986 broad.mit.edu 37 16 422718 422718 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr16:422718G>A ENST00000431232.2 - 12 2072 c.1912C>T c.(1912-1914)Ctt>Ttt p.L638F TMEM8A_ENST00000250930.3_Missense_Mutation_p.L445F NM_021259.2 NP_067082.2 Q9HCN3 TMM8A_HUMAN transmembrane protein 8A 638 cell adhesion integral to plasma membrane central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(1) 14 GTACCCAGAAGAAACAGCACC 0.622000 43 102 0 0 1 0 0 TTBK1 84630 broad.mit.edu 37 6 43226776 43226776 + Splice_Site SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:43226776G>A ENST00000259750.4 + 11 1100 c.1016_splice c.e11-1 p.G339_splice TTBK1_ENST00000304139.5_Splice_Site_p.G288_splice NM_032538.1 NP_115927.1 Q5TCY1 TTBK1_HUMAN tau tubulin kinase 1 339 cell junction|cytoplasm|nucleus ATP binding|protein binding|protein serine/threonine kinase activity breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 53 Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399) CCCTCTCCAGGGTGGTCAATG 0.642000 14 51 0 0 1 0 0 EPHA7 2045 broad.mit.edu 37 6 94120377 94120377 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:94120377G>A ENST00000369303.4 - 3 858 c.674C>T c.(673-675)tCc>tTc p.S225F EPHA7_ENST00000369297.1_Missense_Mutation_p.S225F NM_004440.3 NP_004431.1 Q15375 EPHA7_HUMAN EPH receptor A7 225 Cys-rich. integral to plasma membrane ATP binding|ephrin receptor activity NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1) 112 all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142) BRCA - Breast invasive adenocarcinoma(108;0.0847) GACTAAAGAGGAAAATTCTGA 0.463000 26 54 0 0 1 0 0 MYO3A 53904 broad.mit.edu 37 10 26459433 26459433 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:26459433G>A ENST00000265944.5 + 29 3529 c.3363G>A c.(3361-3363)caG>caA p.Q1121Q MYO3A_ENST00000543632.1_Intron NM_017433.4 NP_059129.3 Q8NEV4 MYO3A_HUMAN myosin IIIA 1121 protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception cytoplasm|filamentous actin|filopodium|myosin complex actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 146 CTTCTGATCAGGAATTCGACT 0.338000 10 22 0 0 1 0 0 GJA1 2697 broad.mit.edu 37 6 121768668 121768668 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:121768668C>T ENST00000282561.3 + 2 832 c.675C>T c.(673-675)atC>atT p.I225I NM_000165.3 NP_000156.1 P17302 CXA1_HUMAN gap junction protein, alpha 1, 43kDa 225 cell-cell signaling|cellular membrane organization|gap junction assembly|heart development|muscle contraction|positive regulation of I-kappaB kinase/NF-kappaB cascade connexon complex|Golgi-associated vesicle membrane|integral to plasma membrane|membrane raft ion transmembrane transporter activity|signal transducer activity p.I225I(1) autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(2)|large_intestine(10)|liver(2)|lung(13)|ovary(2) 33 GBM - Glioblastoma multiforme(226;0.00252) Carvedilol(DB01136) CCTTGAATATCATTGAACTCT 0.522000 48 106 0 0 1 0 0 MGAM 8972 broad.mit.edu 37 7 141734166 141734166 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:141734166G>A ENST00000475668.2 + 15 1828 c.1774G>A c.(1774-1776)Gtc>Atc p.V592I MGAM_ENST00000549489.2_Missense_Mutation_p.V592I O43451 MGA_HUMAN maltase-glucoamylase (alpha-glucosidase) 592 Maltase. polysaccharide digestion|starch catabolic process apical plasma membrane|integral to membrane carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2) 13 Melanoma(164;0.0272) Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878) CTCCATGGCGGTCGCCACAGC 0.438000 5 15 0 0 1 0 0 KRT35 3886 broad.mit.edu 37 17 39637282 39637282 + Missense_Mutation SNP C C G TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:39637282C>G ENST00000393989.1 - 1 110 c.68G>C c.(67-69)gGg>gCg p.G23A KRT35_ENST00000246639.2_5'UTR NM_002280.4 NP_002271.3 Q92764 KRT35_HUMAN keratin 35 23 Head. anatomical structure morphogenesis intermediate filament protein binding|structural molecule activity NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 29 Breast(137;0.000286) AGTGGAGCCCCCACTGGCCCC 0.577000 27 86 0 0 1 0 0 SCN10A 6336 broad.mit.edu 37 3 38739935 38739935 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:38739935C>T ENST00000449082.2 - 27 4775 c.4776G>A c.(4774-4776)ggG>ggA p.G1592G NM_006514.2 NP_006505.2 Q9Y5Y9 SCNAA_HUMAN sodium channel, voltage-gated, type X, alpha subunit 1592 sensory perception voltage-gated sodium channel complex NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 150 KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945) Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296) GTGTGCGGATCCCCTTGGCCG 0.527000 61 116 0 0 1 0 0 RP1 6101 broad.mit.edu 37 8 55537366 55537366 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:55537366G>A ENST00000220676.1 + 4 1072 c.924G>A c.(922-924)caG>caA p.Q308Q NM_006269.1 NP_006260.1 P56715 RP1_HUMAN retinitis pigmentosa 1 (autosomal dominant) 308 axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment microtubule binding NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2) 169 all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123) OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285) ATGATTCTCAGAATTTACCAA 0.299000 5 78 0 0 1 0 0 OR6M1 390261 broad.mit.edu 37 11 123676722 123676722 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:123676722G>A ENST00000309154.2 - 1 373 c.336C>T c.(334-336)ctC>ctT p.L112L NM_001005325.1 NP_001005325.1 Q8NGM8 OR6M1_HUMAN olfactory receptor, family 6, subfamily M, member 1 112 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(2)|skin(5)|urinary_tract(1) 29 Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.028) TCACCGCCAAGAGGATAAACT 0.502000 25 19 0 0 1 0 0 GLTSCR1 29998 broad.mit.edu 37 19 48198255 48198255 + Silent SNP T T G TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:48198255T>G ENST00000396720.3 + 9 3188 c.2994T>G c.(2992-2994)tcT>tcG p.S998S CTD-2571L23.8_ENST00000599924.1_lincRNA NM_015711.3 NP_056526.3 Q9NZM4 GSCR1_HUMAN glioma tumor suppressor candidate region gene 1 998 protein binding breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|pancreas(3)|prostate(4)|skin(2) 20 all_cancers(25;1.8e-07)|all_lung(116;5.73e-06)|Lung NSC(112;9.69e-06)|all_epithelial(76;2.42e-05)|all_neural(266;0.0332)|Ovarian(192;0.086) all cancers(93;0.000358)|OV - Ovarian serous cystadenocarcinoma(262;0.000576)|Epithelial(262;0.0212)|GBM - Glioblastoma multiforme(486;0.0355) CCGCTGCGTCTGTGCTGGTCA 0.731000 5 10 0 0 1 0 0 PPP1R16B 26051 broad.mit.edu 37 20 37464670 37464670 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr20:37464670G>A ENST00000299824.1 + 2 291 c.102G>A c.(100-102)ctG>ctA p.L34L PPP1R16B_ENST00000373331.2_Silent_p.L34L NM_015568.2 NP_056383.1 Q96T49 PP16B_HUMAN protein phosphatase 1, regulatory subunit 16B 34 regulation of filopodium assembly|signal transduction nucleus|plasma membrane protein phosphatase binding biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(23)|prostate(2)|skin(4)|upper_aerodigestive_tract(2) 49 Myeloproliferative disorder(115;0.00878) CCCAGCAGCTGAAGAAATGGG 0.662000 7 13 0 0 1 0 0 PKD1 5310 broad.mit.edu 37 16 2140146 2140146 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr16:2140146G>A ENST00000262304.4 - 46 12702 c.12494C>T c.(12493-12495)tCc>tTc p.S4165F PKD1_ENST00000423118.1_Missense_Mutation_p.S4164F NM_001009944.2 NP_001009944.2 P98161 PKD1_HUMAN polycystic kidney disease 1 (autosomal dominant) 4165 calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway basolateral plasma membrane|integral to plasma membrane protein domain specific binding|sugar binding breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3) 72 GCCCCTGGAGGAGCGAGAGGG 0.692000 41 87 0 0 1 0 0 EYA2 2139 broad.mit.edu 37 20 45771712 45771712 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr20:45771712C>T ENST00000327619.5 + 10 1277 c.903C>T c.(901-903)tcC>tcT p.S301S EYA2_ENST00000357410.3_Silent_p.S301S|EYA2_ENST00000317304.6_Intron NM_005244.4 NP_005235.3 O00167 EYA2_HUMAN eyes absent homolog 2 (Drosophila) 301 DNA repair|histone dephosphorylation|mesodermal cell fate specification|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus magnesium ion binding|protein binding|protein tyrosine phosphatase activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 32 Myeloproliferative disorder(115;0.0241) CCACGACGTCCGTGCGCATTG 0.488000 33 58 0 0 1 0 0 TG 7038 broad.mit.edu 37 8 134024179 134024179 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:134024179C>T ENST00000220616.4 + 36 6336 c.6296C>T c.(6295-6297)tCt>tTt p.S2099F TG_ENST00000377869.1_Missense_Mutation_p.S2042F|TG_ENST00000522523.1_3'UTR|TG_ENST00000542445.1_Missense_Mutation_p.S469F|TG_ENST00000519543.1_Missense_Mutation_p.S232F NM_003235.4 NP_003226.4 P01266 THYG_HUMAN thyroglobulin 2099 hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation extracellular space hormone activity NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8) 168 Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735) BRCA - Breast invasive adenocarcinoma(115;0.000701) KIRC - Kidney renal clear cell carcinoma(542;0.0546) CTGGCCCTCTCTTCAGTGGTT 0.527000 195 338 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179632764 179632764 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:179632764G>A ENST00000589042.1 - 39 9506 c.9282C>T c.(9280-9282)gaC>gaT p.D3094D TTN_ENST00000359218.5_Silent_p.D3048D|TTN_ENST00000591111.1_Silent_p.D3094D|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Silent_p.D3094D|TTN_ENST00000460472.2_Silent_p.D3048D|TTN_ENST00000342175.6_Silent_p.D3048D|TTN_ENST00000360870.5_Silent_p.D3094D NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 2831 Ig-like 18. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GCAGTTCCTGGTCATCTTTCA 0.423000 31 90 0 0 1 0 0 GRIN2D 2906 broad.mit.edu 37 19 48908279 48908279 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:48908279G>A ENST00000263269.3 + 3 842 c.754G>A c.(754-756)Gag>Aag p.E252K NM_000836.2 NP_000827.2 O15399 NMDE4_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2D 252 cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|protein binding autonomic_ganglia(1)|breast(6)|endometrium(2)|large_intestine(9)|lung(12)|ovary(5)|pancreas(1)|prostate(1) 37 all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203) all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161) L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Orphenadrine(DB01173) CGCCCGAGAGGAGGCCGAGCC 0.716000 21 41 0 0 1 0 0 ANGPT1 284 broad.mit.edu 37 8 108276547 108276547 + Missense_Mutation SNP C C T rs138754767 TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:108276547C>T ENST00000520734.1 - 7 923 c.638G>A c.(637-639)gGa>gAa p.G213E ANGPT1_ENST00000518386.1_5'UTR|ANGPT1_ENST00000520052.1_Missense_Mutation_p.G212E Q15389 ANGP1_HUMAN angiopoietin 1 413 activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|blood coagulation|cell differentiation|heparin biosynthetic process|leukocyte migration|negative regulation of cell adhesion|negative regulation of endothelial cell apoptosis|negative regulation of vascular permeability|positive chemotaxis|positive regulation of blood vessel endothelial cell migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|positive regulation of receptor internalization|protein localization at cell surface|regulation of satellite cell proliferation|sprouting angiogenesis|Tie receptor signaling pathway extracellular space|membrane raft|microvillus|plasma membrane receptor tyrosine kinase binding p.G413E(1) NS(1)|breast(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(13)|ovary(4)|prostate(1)|skin(7)|upper_aerodigestive_tract(1) 43 Breast(1;5.06e-08) OV - Ovarian serous cystadenocarcinoma(57;5.53e-09) GCTCTGTTTTCCTGCTGTCCC 0.413000 38 65 0 0 1 0 0 TLR8 51311 broad.mit.edu 37 X 12938305 12938305 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chrX:12938305C>T ENST00000218032.6 + 2 1233 c.1146C>T c.(1144-1146)ctC>ctT p.L382L TLR8_ENST00000311912.5_Silent_p.L400L NM_138636.4 NP_619542.1 Q9NR97 TLR8_HUMAN toll-like receptor 8 382 cellular response to mechanical stimulus|defense response to virus|I-kappaB kinase/NF-kappaB cascade|immunoglobulin mediated immune response|inflammatory response|innate immune response|positive regulation of innate immune response|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process endosome membrane DNA binding|double-stranded RNA binding|single-stranded RNA binding|transmembrane receptor activity breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 50 TCCAGGAACTCAGAGAAGATG 0.363000 55 110 0 0 1 0 0 NAALAD2 10003 broad.mit.edu 37 11 89896831 89896831 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:89896831G>A ENST00000525171.1 + 8 1075 c.1045G>A c.(1045-1047)Gaa>Aaa p.E349K NAALAD2_ENST00000534061.1_Intron|NAALAD2_ENST00000375944.3_Intron|NAALAD2_ENST00000321955.4_Intron Q9Y3Q0 NALD2_HUMAN N-acetylated alpha-linked acidic dipeptidase 2 0 NAALADase. proteolysis integral to membrane carboxypeptidase activity|dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity|serine-type peptidase activity NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(32)|pancreas(1)|prostate(3)|skin(5)|stomach(2) 59 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556) GGTCAACAGGGAACAAATATG 0.348000 13 25 0 0 1 0 0 TMEM131 23505 broad.mit.edu 37 2 98409002 98409002 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:98409002G>A ENST00000186436.5 - 31 4219 c.3991C>T c.(3991-3993)Cac>Tac p.H1331Y NM_015348.1 NP_056163.1 Q92545 TM131_HUMAN transmembrane protein 131 1331 Pro-rich. integral to membrane NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1) 57 CGTTCTGGGTGGGAAGGGTGT 0.647000 9 18 0 0 1 0 0 ELN 2006 broad.mit.edu 37 7 73470688 73470688 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:73470688G>A ENST00000252034.7 + 20 1637 c.1238G>A c.(1237-1239)gGt>gAt p.G413D ELN_ENST00000466878.1_3'UTR|ELN_ENST00000429192.1_Missense_Mutation_p.G418D|ELN_ENST00000320399.6_Missense_Mutation_p.G413D|ELN_ENST00000445912.1_Missense_Mutation_p.G413D|ELN_ENST00000320492.7_Splice_Site|ELN_ENST00000357036.5_Missense_Mutation_p.G418D|ELN_ENST00000358929.4_Missense_Mutation_p.G413D|ELN_ENST00000380576.5_Missense_Mutation_p.G413D|ELN_ENST00000458204.1_Missense_Mutation_p.G403D|ELN_ENST00000380575.4_Missense_Mutation_p.G403D|ELN_ENST00000414324.1_Missense_Mutation_p.G408D|ELN_ENST00000380584.4_Missense_Mutation_p.G399D|ELN_ENST00000380562.4_Missense_Mutation_p.G413D|ELN_ENST00000380553.4_Missense_Mutation_p.G296D NM_000501.2 NP_000492.2 P15502 ELN_HUMAN elastin 413 Ala-rich. blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange proteinaceous extracellular matrix extracellular matrix constituent conferring elasticity|protein binding breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1) 32 Lung NSC(55;0.159) Rofecoxib(DB00533) GGAGTCGGAGGTATCCCTGGA 0.642000 T PAX5 B-ALL """Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome""" 69 241 0 0 1 0 0 ACOXL 55289 broad.mit.edu 37 2 111562863 111562863 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:111562863G>A ENST00000389811.4 + 9 868 c.644G>A c.(643-645)gGa>gAa p.G215E ACOXL_ENST00000439055.1_Missense_Mutation_p.G215E|ACOXL_ENST00000340561.4_Missense_Mutation_p.G215E Q9NUZ1 ACOXL_HUMAN acyl-CoA oxidase-like 215 fatty acid beta-oxidation peroxisome acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(1) 21 GCTCCAGATGGACAGTACCAT 0.507000 54 128 0 0 1 0 0 ZNF733P 643955 broad.mit.edu 37 7 62758735 62758735 + RNA SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:62758735G>A ENST00000331425.6 - 0 142 NR_003952.1 CCTCCAGAGAGAATTCTATAG 0.433000 34 134 0 0 1 0 0 CC2D1A 54862 broad.mit.edu 37 19 14034157 14034157 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:14034157C>T ENST00000318003.7 + 15 1894 c.1653C>T c.(1651-1653)gcC>gcT p.A551A CC2D1A_ENST00000589606.1_Silent_p.A551A NM_017721.4 NP_060191.3 Q6P1N0 C2D1A_HUMAN coiled-coil and C2 domain containing 1A 551 positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus|plasma membrane DNA binding|signal transducer activity NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(2)|skin(2) 27 OV - Ovarian serous cystadenocarcinoma(19;3.49e-23) TGCCGCCTGCCCCTGTCAACA 0.647000 58 150 0 0 1 0 0 CCBE1 147372 broad.mit.edu 37 18 57115254 57115254 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr18:57115254G>A ENST00000439986.4 - 7 773 c.736C>T c.(736-738)Cca>Tca p.P246S CCBE1_ENST00000398179.2_Silent_p.F21F NM_133459.3 NP_597716.1 Q6UXH8 CCBE1_HUMAN collagen and calcium binding EGF domains 1 246 Collagen-like 1. lymphangiogenesis|sprouting angiogenesis|venous blood vessel morphogenesis collagen calcium ion binding NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(3) 24 Colorectal(73;0.175) GGAGGTCCTGGAAGGTAGGTG 0.577000 54 87 0 0 1 0 0 MYO15A 51168 broad.mit.edu 37 17 18023087 18023087 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:18023087C>T ENST00000205890.5 + 2 1311 c.973C>T c.(973-975)Cct>Tct p.P325S NM_016239.3 NP_057323.3 Q9UKN7 MYO15_HUMAN myosin XVA 325 Myosin head-like. sensory perception of sound cytoplasm|myosin complex|stereocilium actin binding|ATP binding|calmodulin binding|motor activity breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 99 all_neural(463;0.228) GTACTCGTCTCCTTACAGCTA 0.612000 76 133 0 0 1 0 0 TNN 63923 broad.mit.edu 37 1 175067721 175067721 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:175067721G>A ENST00000239462.4 + 9 2222 c.2109G>A c.(2107-2109)aaG>aaA p.K703K NM_022093.1 NP_071376.1 Q9UQP3 TENN_HUMAN tenascin N 703 Fibronectin type-III 5. cell growth|cell migration|signal transduction extracellular space|proteinaceous extracellular matrix NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 156 Breast(1374;0.000962) KIRC - Kidney renal clear cell carcinoma(1967;0.00198) CCGACACCAAGGCCCAGACAG 0.572000 42 136 0 0 1 0 0 NLGN3 54413 broad.mit.edu 37 X 70389240 70389240 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chrX:70389240G>A ENST00000374051.3 + 7 2102 c.1780G>A c.(1780-1782)Gat>Aat p.D594N NLGN3_ENST00000476589.1_3'UTR|NLGN3_ENST00000358741.3_Missense_Mutation_p.D614N|NLGN3_ENST00000536169.1_Missense_Mutation_p.D574N NM_018977.3 NP_061850.2 Q9NZ94 NLGN3_HUMAN neuroligin 3 614 neuron cell-cell adhesion|positive regulation of synaptogenesis|receptor-mediated endocytosis|social behavior|synapse assembly cell surface|endocytic vesicle|integral to plasma membrane|synapse neurexin binding|receptor activity biliary_tract(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 37 Renal(35;0.156) AAGGGTCCGAGATCATTACCG 0.527000 10 6 0 0 1 0 0 FBXO16 157574 broad.mit.edu 37 8 28286209 28286209 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:28286209G>A ENST00000346498.2 - 7 960 c.852C>T c.(850-852)ctC>ctT p.L284L FBXO16_ENST00000380254.2_3'UTR|FBXO16_ENST00000518734.1_3'UTR Q8IX29 FBX16_HUMAN F-box protein 16 0 large_intestine(2)|ovary(1) 3 Ovarian(32;2.06e-05) KIRC - Kidney renal clear cell carcinoma(542;0.121)|Kidney(114;0.144)|Colorectal(74;0.249) GAGGCCAGGCGAGATGAGCTG 0.532000 7 11 0 0 1 0 0 ATP9A 10079 broad.mit.edu 37 20 50290799 50290799 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr20:50290799G>A ENST00000338821.5 - 11 1194 c.930C>T c.(928-930)gcC>gcT p.A310A ATP9A_ENST00000311637.5_Silent_p.A174A|ATP9A_ENST00000402822.1_Silent_p.A189A NM_006045.1 NP_006036.1 O75110 ATP9A_HUMAN ATPase, class II, type 9A 310 ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 48 CCACCACCAGGGCACCAAAGA 0.542000 33 70 0 0 1 0 0 GPR98 84059 broad.mit.edu 37 5 90445960 90445960 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:90445960C>T ENST00000405460.2 + 88 18642 c.18546C>T c.(18544-18546)ttC>ttT p.F6182F GPR98_ENST00000425867.2_Silent_p.F1843F NM_032119.3 NP_115495.3 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 6182 cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6) 269 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) CAGCCTTTTTCACGCCCGGGA 0.507000 6 14 0 0 1 0 0 TUB 7275 broad.mit.edu 37 11 8122478 8122478 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:8122478C>T ENST00000305253.4 + 12 1727 c.1486C>T c.(1486-1488)Ctc>Ttc p.L496F TUB_ENST00000534099.1_Missense_Mutation_p.L447F|TUB_ENST00000299506.2_Missense_Mutation_p.L441F NM_003320.4 NP_003311.2 P50607 TUB_HUMAN tubby bipartite transcription factor 441 phagocytosis|positive regulation of phagocytosis|response to stimulus cytoplasm|extracellular region|nucleus|plasma membrane breast(1)|cervix(1)|endometrium(9)|large_intestine(7)|lung(5)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1) 26 all_lung(207;6.91e-20)|Lung NSC(207;3.36e-17) Epithelial(150;1.69e-62)|BRCA - Breast invasive adenocarcinoma(625;8.54e-06)|LUSC - Lung squamous cell carcinoma(625;0.000184) GTCCTATGTACTCAACTTCCA 0.498000 12 50 0 0 1 0 0 DAGLA 747 broad.mit.edu 37 11 61503801 61503801 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:61503801C>T ENST00000257215.5 + 13 1466 c.1350C>T c.(1348-1350)tcC>tcT p.S450S NM_006133.2 NP_006124.1 Q9Y4D2 DGLA_HUMAN diacylglycerol lipase, alpha 450 cell death|lipid catabolic process|platelet activation integral to membrane|plasma membrane acylglycerol lipase activity|metal ion binding|triglyceride lipase activity breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4) 43 READ - Rectum adenocarcinoma(4;0.219) TGGTCCTGTCCCAGGCCTTTG 0.577000 22 65 0 0 1 0 0 THSD7B 80731 broad.mit.edu 37 2 138330067 138330067 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:138330067C>T ENST00000409968.1 + 17 3542 c.3364C>T c.(3364-3366)Ctt>Ttt p.L1122F THSD7B_ENST00000272643.3_Missense_Mutation_p.L1125F|THSD7B_ENST00000413152.2_Missense_Mutation_p.L1094F|THSD7B_ENST00000543459.1_Intron thrombospondin, type I, domain containing 7B NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 134 BRCA - Breast invasive adenocarcinoma(221;0.19) GTCCTGTTCTCTTATGTGTCC 0.458000 11 43 0 0 1 0 0 ST6GALNAC1 55808 broad.mit.edu 37 17 74622817 74622817 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:74622817G>A ENST00000156626.7 - 5 1426 c.1227C>T c.(1225-1227)tcC>tcT p.S409S NM_018414.3 NP_060884.1 Q9NSC7 SIA7A_HUMAN ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 1 409 protein glycosylation integral to Golgi membrane alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity p.S409S(1) breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1) 22 AGCCGTAGAAGGATGTCCGAG 0.532000 121 540 0 0 1 0 0 MTMR7 9108 broad.mit.edu 37 8 17199001 17199001 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:17199001G>A ENST00000180173.5 - 6 637 c.603C>T c.(601-603)tcC>tcT p.S201S MTMR7_ENST00000521857.1_Silent_p.S201S|MTMR7_ENST00000523571.1_5'UTR NM_004686.4 NP_004677.3 Q9Y216 MTMR7_HUMAN myotubularin related protein 7 201 Myotubularin phosphatase. protein tyrosine phosphatase activity breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(8)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1) 32 Colorectal(111;0.112) TCCGGCAGATGGAGGCCTAGG 0.582000 5 54 0 0 1 0 0 NRXN3 9369 broad.mit.edu 37 14 79432647 79432647 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr14:79432647C>T ENST00000554719.1 + 9 2047 c.1556C>T c.(1555-1557)tCc>tTc p.S519F NRXN3_ENST00000335750.5_Missense_Mutation_p.S519F NM_004796.4 NP_004787.2 Q9HDB5 NRX3B_HUMAN neurexin 3 0 angiogenesis|cell adhesion integral to membrane NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1) 104 Renal(4;0.00876) BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223) GCTTACACCTCCATGCACCTC 0.498000 41 78 0 0 1 0 0 HPGD 3248 broad.mit.edu 37 4 175414393 175414393 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:175414393G>A ENST00000296522.6 - 6 1017 c.571C>T c.(571-573)Ctt>Ttt p.L191F HPGD_ENST00000296521.7_Intron|HPGD_ENST00000542498.1_Intron|HPGD_ENST00000510901.1_Missense_Mutation_p.L70F|HPGD_ENST00000422112.2_Missense_Mutation_p.L123F|HPGD_ENST00000541923.1_Missense_Mutation_p.L70F NM_000860.5|NM_001145816.2|NM_001256301.1|NM_001256307.1 NP_000851.2|NP_001139288.1|NP_001243230.1|NP_001243236.1 P15428 PGDH_HUMAN hydroxyprostaglandin dehydrogenase 15-(NAD) 191 female pregnancy|lipoxygenase pathway|negative regulation of cell cycle|parturition|prostaglandin metabolic process|transforming growth factor beta receptor signaling pathway cytosol|nucleus 15-hydroxyprostaglandin dehydrogenase (NAD+) activity|NAD+ binding|prostaglandin E receptor activity|protein homodimerization activity kidney(1)|lung(3)|prostate(3) 7 Prostate(90;0.00763)|Melanoma(52;0.0179)|Renal(120;0.0376)|Breast(14;0.0991)|all_hematologic(60;0.124)|all_neural(102;0.196) all cancers(43;2.6e-18)|Epithelial(43;4.19e-16)|OV - Ovarian serous cystadenocarcinoma(60;5.23e-09)|GBM - Glioblastoma multiforme(59;0.00176)|STAD - Stomach adenocarcinoma(60;0.00299)|LUSC - Lung squamous cell carcinoma(193;0.0253) NADH(DB00157) ATTGATTCAAGGATGGCTGTG 0.348000 5 76 0 0 1 0 0 MARVELD3 91862 broad.mit.edu 37 16 71674502 71674502 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr16:71674502G>A ENST00000299952.4 + 3 848 c.805G>A c.(805-807)Ggt>Agt p.G269S PHLPP2_ENST00000540628.1_3'UTR|MARVELD3_ENST00000561682.1_Intron|MARVELD3_ENST00000565261.1_3'UTR NM_001017967.2 NP_001017967.2 Q96A59 MALD3_HUMAN MARVEL domain containing 3 272 MARVEL. integral to membrane NS(1)|endometrium(3)|large_intestine(5)|lung(6)|skin(2) 17 Ovarian(137;0.125) CCTGATATACGGTGGCGTGGC 0.567000 6 51 0 0 1 0 0 FAM169A 26049 broad.mit.edu 37 5 74101001 74101001 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:74101001C>T ENST00000389156.4 - 7 869 c.779G>A c.(778-780)aGa>aAa p.R260K FAM169A_ENST00000510496.1_Missense_Mutation_p.R200K|FAM169A_ENST00000380515.3_3'UTR NM_015566.2 NP_056381.1 Q9Y6X4 F169A_HUMAN family with sequence similarity 169, member A 260 breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1) 27 AAGTGCTTCTCTTTGTAATGC 0.408000 24 62 0 0 1 0 0 HNF1A 6927 broad.mit.edu 37 12 121434448 121434448 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:121434448C>T ENST00000257555.6 + 6 1438 c.1212C>T c.(1210-1212)atC>atT p.I404I HNF1A_ENST00000538626.1_Intron|HNF1A_ENST00000400024.2_Silent_p.I404I|HNF1A_ENST00000544413.1_Silent_p.I404I|HNF1A_ENST00000402929.1_Silent_p.I404I|HNF1A_ENST00000543427.1_Silent_p.I287I|HNF1A_ENST00000541395.1_Silent_p.I404I P20823 HNF1A_HUMAN HNF1 homeobox A 404 glucose homeostasis|glucose import|insulin secretion|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|renal glucose absorption cytoplasm|nucleus|protein complex DNA binding|protein dimerization activity|protein heterodimerization activity|protein homodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding breast(3)|central_nervous_system(2)|cervix(1)|endometrium(8)|large_intestine(19)|liver(175)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1) 221 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) AGAACCTCATCATGGCCTCAC 0.642000 Hepatic Adenoma, Familial Clustering of 22 36 0 0 1 0 0 TTC18 118491 broad.mit.edu 37 10 75072399 75072399 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:75072399G>A ENST00000310715.3 - 11 1245 c.1125C>T c.(1123-1125)acC>acT p.T375T TTC18_ENST00000394865.1_Silent_p.T375T|TTC18_ENST00000355577.3_5'UTR|TTC18_ENST00000340329.3_Intron|TTC18_ENST00000401621.2_Silent_p.T375T|TTC18_ENST00000493787.1_5'UTR NM_145170.3 NP_660153.3 Q5T0N1 TTC18_HUMAN tetratricopeptide repeat domain 18 375 binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 Prostate(51;0.0119) ATAAACATTTGGTCTGAAAAA 0.294000 67 131 0 0 1 0 0 TIAM1 7074 broad.mit.edu 37 21 32639207 32639207 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr21:32639207G>A ENST00000286827.3 - 5 553 c.82C>T c.(82-84)Cgc>Tgc p.R28C TIAM1_ENST00000541036.1_Missense_Mutation_p.R28C|TIAM1_ENST00000469412.1_Intron NM_003253.2 NP_003244.2 Q13009 TIAM1_HUMAN T-cell lymphoma invasion and metastasis 1 28 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cell-cell junction|cytosol receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2) 115 CGCAGGGAGCGGGAAGTGTGC 0.577000 6 66 0 0 1 0 0 ULBP2 80328 broad.mit.edu 37 6 150266520 150266520 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:150266520G>A ENST00000367351.3 + 2 234 c.161G>A c.(160-162)gGc>gAc p.G54D NM_025217.2 NP_079493.1 Q9BZM5 N2DL2_HUMAN UL16 binding protein 2 54 MHC class I alpha-1 like. antigen processing and presentation|immune response|natural killer cell activation|regulation of immune response anchored to membrane|cell surface|extracellular space|MHC class I protein complex MHC class I receptor activity breast(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|skin(1) 10 Ovarian(120;0.0907) BRCA - Breast invasive adenocarcinoma(37;0.193) OV - Ovarian serous cystadenocarcinoma(155;2.58e-12) GCGGTTCAAGGCCAGGTGGAT 0.522000 106 54 0 0 1 0 0 ERO1L 30001 broad.mit.edu 37 14 53119019 53119019 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr14:53119019G>A ENST00000395686.3 - 13 1286 c.1063C>T c.(1063-1065)Cct>Tct p.P355S NM_014584.1 NP_055399.1 Q96HE7 ERO1A_HUMAN ERO1-like (S. cerevisiae) 355 chaperone mediated protein folding requiring cofactor|electron transport chain|protein thiol-disulfide exchange|response to temperature stimulus|transport endoplasmic reticulum lumen|endoplasmic reticulum membrane|microsome disulfide oxidoreductase activity|flavin adenine dinucleotide binding|oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor ERO1L/FERMT2(2) breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1) 12 Breast(41;0.226) AAATGCAAAGGAAATGACCTG 0.279000 39 99 0 0 1 0 0 UBQLN4 56893 broad.mit.edu 37 1 156011382 156011382 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:156011382G>A ENST00000368309.3 - 10 1639 c.1547C>T c.(1546-1548)tCc>tTc p.S516F UBQLN4_ENST00000368307.1_Silent_p.F168F NM_020131.3 NP_064516.2 Q9NRR5 UBQL4_HUMAN ubiquilin 4 516 cytosol|endoplasmic reticulum membrane|nucleus identical protein binding p.S516F(1) NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(1)|lung(6)|pancreas(1)|skin(2) 16 Hepatocellular(266;0.133)|all_neural(408;0.195) GGCTGGTGAGGAAGTGGGGGC 0.607000 17 47 0 0 1 0 0 DDX60 55601 broad.mit.edu 37 4 169146818 169146818 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:169146818C>T ENST00000393743.3 - 34 4834 c.4543G>A c.(4543-4545)Gat>Aat p.D1515N NM_017631.5 NP_060101.3 Q8IY21 DDX60_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 60 1515 ATP binding|ATP-dependent helicase activity|RNA binding breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4) 63 Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132) GBM - Glioblastoma multiforme(119;0.0485) GGGAGATCATCAAGGAACACC 0.353000 4 84 0 0 1 0 0 FAM208B 54906 broad.mit.edu 37 10 5788551 5788551 + Missense_Mutation SNP T T A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:5788551T>A ENST00000328090.5 + 15 3792 c.3167T>A c.(3166-3168)tTt>tAt p.F1056Y NM_017782.4 NP_060252.4 Q5VWN6 CJ018_HUMAN family with sequence similarity 208, member B 1056 ACTCTCACCTTTGAAAAAAAT 0.408000 23 87 0 0 1 0 0 CCDC33 80125 broad.mit.edu 37 15 74559080 74559080 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr15:74559080C>T ENST00000321288.5 + 6 990 c.990C>T c.(988-990)ccC>ccT p.P330P CCDC33_ENST00000398814.3_Silent_p.P127P Q8N5R6 CCD33_HUMAN coiled-coil domain containing 33 330 protein binding breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 39 ACAAAATCCCCATCAAGTACC 0.488000 10 220 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179581972 179581972 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:179581972G>A ENST00000589042.1 - 88 25713 c.25489C>T c.(25489-25491)Cgc>Tgc p.R8497C TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.R8180C|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R7253C|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 8180 Ig-like 67. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) CCTCCAGGGCGAATCTCTCGG 0.458000 4 95 0 0 1 0 0 ZNF423 23090 broad.mit.edu 37 16 49672197 49672197 + Missense_Mutation SNP A A C TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr16:49672197A>C ENST00000561648.1 - 4 919 c.866T>G c.(865-867)cTg>cGg p.L289R ZNF423_ENST00000562520.1_Missense_Mutation_p.L229R|ZNF423_ENST00000535559.1_Missense_Mutation_p.L172R|ZNF423_ENST00000567169.1_Missense_Mutation_p.L172R|ZNF423_ENST00000562871.1_Missense_Mutation_p.L229R|ZNF423_ENST00000262383.2_Missense_Mutation_p.L289R|ZNF423_ENST00000563137.2_Missense_Mutation_p.L229R NM_001271620.1 NP_001258549.1 Q2M1K9 ZN423_HUMAN zinc finger protein 423 289 cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2) 89 all_cancers(37;0.0155) CTTCTCGGACAGCTGCGGGTG 0.597000 3 46 0 0 1 0 0 DDX54 79039 broad.mit.edu 37 12 113612911 113612911 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:113612911G>A ENST00000314045.7 - 8 831 c.804C>T c.(802-804)ctC>ctT p.L268L DDX54_ENST00000306014.5_Silent_p.L268L NM_001111322.1 NP_001104792.1 Q8TDD1 DDX54_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 54 268 Helicase ATP-binding. estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent nucleolus ATP binding|ATP-dependent RNA helicase activity|estrogen receptor binding|RNA binding|transcription corepressor activity breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 31 GGCCCCCGGGGAGGCGGGCGA 0.647000 OREG0022139 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 34 81 0 0 1 0 0 ZNF274 10782 broad.mit.edu 37 19 58724447 58724447 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:58724447C>T ENST00000326804.4 + 9 2356 c.1897C>T c.(1897-1899)Ctt>Ttt p.L633F ZNF274_ENST00000597818.1_3'UTR|ZNF274_ENST00000424679.2_Missense_Mutation_p.L528F|ZNF274_ENST00000345813.3_Missense_Mutation_p.L601F NM_133502.1 NP_598009.1 Q96GC6 ZN274_HUMAN zinc finger protein 274 634 viral reproduction centrosome|nucleolus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)|skin(1) 21 Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.215) GAGCTCACACCTTATTGGGCA 0.517000 52 81 0 0 1 0 0 LRRC37B 114659 broad.mit.edu 37 17 30348869 30348869 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:30348869G>A ENST00000327564.7 + 1 846 c.785G>A c.(784-786)gGc>gAc p.G262D LRRC37B_ENST00000543378.2_Missense_Mutation_p.G153D|LRRC37B_ENST00000341671.7_Missense_Mutation_p.G235D|LRRC37B_ENST00000394713.3_Missense_Mutation_p.G235D|LRRC37B_ENST00000584368.1_Missense_Mutation_p.G247D Q96QE4 LR37B_HUMAN leucine rich repeat containing 37B 235 integral to membrane endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3) 29 Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.111)|Ovarian(249;0.182)|Breast(31;0.244) CTGTATCCCGGCAGCCTACCT 0.483000 91 163 0 0 1 0 0 GOLGA3 2802 broad.mit.edu 37 12 133378528 133378528 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:133378528G>A ENST00000204726.3 - 8 2183 c.1625C>T c.(1624-1626)gCc>gTc p.A542V GOLGA3_ENST00000537452.1_Missense_Mutation_p.A542V|GOLGA3_ENST00000450791.2_Missense_Mutation_p.A542V|GOLGA3_ENST00000545875.1_Missense_Mutation_p.A542V|GOLGA3_ENST00000456883.2_Missense_Mutation_p.A542V NM_005895.3 NP_005886.2 Q08378 GOGA3_HUMAN golgin A3 542 Gln-rich. intra-Golgi vesicle-mediated transport Golgi cisterna membrane|Golgi transport complex protein binding|transporter activity breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.0176)|Lung NSC(355;0.204) OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06) GCTCTGCAAGGCTGTCATCTG 0.672000 29 42 0 0 1 0 0 FOXP1 27086 broad.mit.edu 37 3 71247395 71247395 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:71247395G>A ENST00000318789.4 - 6 663 c.138C>T c.(136-138)atC>atT p.I46I FOXP1_ENST00000468577.1_Silent_p.I46I|FOXP1_ENST00000493089.1_Silent_p.I46I|FOXP1_ENST00000318779.3_Silent_p.I46I|FOXP1_ENST00000484350.1_Silent_p.I46I|FOXP1_ENST00000475937.1_Silent_p.I46I|FOXP1_ENST00000498215.1_Silent_p.I46I NM_001244810.1|NM_001244813.1|NM_032682.5 NP_001231739.1|NP_001231742.1|NP_116071.2 Q9H334 FOXP1_HUMAN forkhead box P1 46 cardiac muscle cell differentiation|embryo development|immunoglobulin V(D)J recombination|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of immunoglobulin production|positive regulation of mesenchymal cell proliferation|pre-B cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|skeletal muscle tissue development|smooth muscle tissue development cytoplasm|transcription factor complex chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 31 Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209) BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05) CAGCTGCCCCGATGTCCACGG 0.632000 T PAX5 ALL 92 128 0 0 1 0 0 EPB41L4A 64097 broad.mit.edu 37 5 111643149 111643149 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:111643149G>A ENST00000261486.5 - 2 414 c.138C>T c.(136-138)ttC>ttT p.F46F NM_022140.3 NP_071423.3 Q9HCS5 E41LA_HUMAN erythrocyte membrane protein band 4.1 like 4A 46 FERM. cytoplasm|cytoskeleton|extrinsic to membrane cytoskeletal protein binding breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(2)|skin(1) 34 all_cancers(142;4.93e-06)|all_epithelial(76;2.28e-08)|Prostate(80;0.000244)|Colorectal(10;0.000788)|Ovarian(225;0.0448)|Lung NSC(167;0.126)|all_lung(232;0.135) OV - Ovarian serous cystadenocarcinoma(64;6.24e-09)|Epithelial(69;1.43e-07)|all cancers(49;2.78e-05)|COAD - Colon adenocarcinoma(37;0.0467)|Colorectal(14;0.0791) TTACGTGATGGAATACGTGGT 0.383000 20 51 0 0 1 0 0 F13A1 2162 broad.mit.edu 37 6 6266847 6266847 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:6266847C>T ENST00000264870.3 - 4 780 c.515G>A c.(514-516)cGa>cAa p.R172Q NM_000129.3 NP_000120.2 P00488 F13A_HUMAN coagulation factor XIII, A1 polypeptide 172 peptide cross-linking|platelet activation|platelet degranulation extracellular region|platelet alpha granule lumen acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity p.R172Q(1) NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 62 Ovarian(93;0.0816) all_hematologic(90;0.152) L-Glutamine(DB00130) TCGACTGGTTCGAAGTACGCC 0.458000 70 162 0 0 1 0 0 PCLO 27445 broad.mit.edu 37 7 82545832 82545832 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:82545832G>A ENST00000423517.2 - 7 11807 c.11470C>T c.(11470-11472)Ctc>Ttc p.L3824F PCLO_ENST00000333891.8_Missense_Mutation_p.L3824F|PCLO_ENST00000437081.1_Missense_Mutation_p.L544F NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 3755 Gln-rich. cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 ACTCCCTGGAGGTAGGCTCGT 0.463000 26 140 0 0 1 0 0 PDE7B 27115 broad.mit.edu 37 6 136500226 136500226 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:136500226C>T ENST00000308191.6 + 10 1198 c.895C>T c.(895-897)Cac>Tac p.H299Y RP13-143G15.4_ENST00000417643.1_RNA|RP13-143G15.4_ENST00000591521.1_RNA|RP13-143G15.4_ENST00000585946.1_RNA NM_018945.3 NP_061818.1 Q9NP56 PDE7B_HUMAN phosphodiesterase 7B 299 Catalytic (By similarity). signal transduction|synaptic transmission cytosol 3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding breast(1)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 21 Colorectal(23;0.24) OV - Ovarian serous cystadenocarcinoma(155;0.0136)|GBM - Glioblastoma multiforme(68;0.0147) Dyphylline(DB00651)|Ketotifen(DB00920) AGCTCACCTCCACAATAAAGA 0.428000 40 88 0 0 1 0 0 NBPF1 55672 broad.mit.edu 37 1 16892931 16892931 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:16892931C>T ENST00000430580.2 - 26 3750 c.2863G>A c.(2863-2865)Gaa>Aaa p.E955K NM_017940.3 NP_060410.2 Q3BBV0 NBPF1_HUMAN neuroblastoma breakpoint family, member 1 955 NBPF 6. cytoplasm UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179) TGGTCTTCTTCCACTTCTTGG 0.423000 21 1204 0 0 1 0 0 UGT2B10 7365 broad.mit.edu 37 4 69692212 69692212 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:69692212C>T ENST00000265403.7 + 4 1111 c.1084C>T c.(1084-1086)Cta>Tta p.L362L UGT2B10_ENST00000458688.2_Silent_p.L278L NM_001075.4 NP_001066.1 P36537 UDB10_HUMAN UDP glucuronosyltransferase 2 family, polypeptide B10 362 lipid metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity p.L362L(2) endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1) 29 GAATGACCTTCTAGGTAACAC 0.378000 35 95 0 0 1 0 0 HSD17B4 3295 broad.mit.edu 37 5 118827797 118827797 + Silent SNP T T C TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:118827797T>C ENST00000504811.1 + 11 976 c.792T>C c.(790-792)gtT>gtC p.V264V HSD17B4_ENST00000509514.1_5'UTR|HSD17B4_ENST00000510025.1_Silent_p.V215V|HSD17B4_ENST00000515320.1_Silent_p.V221V|HSD17B4_ENST00000414835.2_Silent_p.V99V|HSD17B4_ENST00000513628.1_Silent_p.V102V|HSD17B4_ENST00000256216.6_Silent_p.V239V NM_001199291.1 NP_001186220.1 P51659 DHB4_HUMAN hydroxysteroid (17-beta) dehydrogenase 4 239 (3R)-hydroxyacyl-CoA dehydrogenase. bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase peroxisomal matrix 3-hydroxyacyl-CoA dehydrogenase activity|3alpha,7alpha,12alpha-trihydroxy-5beta-cholest-24-enoyl-CoA hydratase activity|estradiol 17-beta-dehydrogenase activity|isomerase activity|long-chain-enoyl-CoA hydratase activity|protein binding|sterol binding|sterol transporter activity breast(2)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(2) 25 all_cancers(142;0.0206)|Prostate(80;0.0322) OV - Ovarian serous cystadenocarcinoma(64;0.000247)|Epithelial(69;0.000849)|all cancers(49;0.0122) NADH(DB00157) TTTGGTAGGTTGGAGCAGGAT 0.338000 71 146 0 0 1 0 0 ZNF841 284371 broad.mit.edu 37 19 52570841 52570841 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:52570841G>A ENST00000389534.4 - 7 753 c.294C>T c.(292-294)atC>atT p.I98I ZNF841_ENST00000426391.2_5'UTR|ZNF841_ENST00000594295.1_Silent_p.I98I|ZNF432_ENST00000598446.1_Intron NM_001136499.1 NP_001129971.1 Q6ZN19 ZN841_HUMAN zinc finger protein 841 0 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(4)|kidney(3)|lung(3) 11 GTAATTCCTTGATCACACATT 0.323000 17 35 0 0 1 0 0 SLC12A8 84561 broad.mit.edu 37 3 124837670 124837670 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:124837670G>A ENST00000423114.2 - 8 941 c.942C>T c.(940-942)ctC>ctT p.L314L SLC12A8_ENST00000465475.1_5'UTR|SLC12A8_ENST00000430155.2_Silent_p.L86L|SLC12A8_ENST00000393469.4_Silent_p.L285L|SLC12A8_ENST00000314584.7_Silent_p.L38L|SLC12A8_ENST00000469902.1_Silent_p.L285L A0AV02 S12A8_HUMAN solute carrier family 12, member 8 285 potassium ion transport integral to membrane symporter activity endometrium(2)|kidney(2)|lung(12) 16 TGGCGCCCAGGAGGAAGACGA 0.577000 15 44 0 0 1 0 0 FGF19 9965 broad.mit.edu 37 11 69514186 69514186 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:69514186G>A ENST00000294312.3 - 3 1260 c.495C>T c.(493-495)ttC>ttT p.F165F NM_005117.2 NP_005108.1 O95750 FGF19_HUMAN fibroblast growth factor 19 165 fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|negative regulation of bile acid biosynthetic process|nervous system development|positive regulation of cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of glucose import|positive regulation of JNK cascade extracellular region fibroblast growth factor receptor binding|growth factor activity large_intestine(2)|lung(2)|skin(2) 6 all_cancers(3;5.53e-114)|all_epithelial(3;1.34e-121)|Breast(3;9.28e-34)|all_lung(4;1.99e-21)|Lung NSC(4;4.65e-21)|Hepatocellular(3;6.15e-15)|Melanoma(5;1.89e-05)|Ovarian(3;0.0348) Epithelial(3;3.05e-56)|all cancers(3;2.69e-50)|Lung(3;1.13e-16)|LUSC - Lung squamous cell carcinoma(11;3.74e-15)|STAD - Stomach adenocarcinoma(18;0.0278)|LUAD - Lung adenocarcinoma(13;0.0537) GCATGGGCAGGAAATGAGAGA 0.587000 48 170 0 0 1 0 0 PDGFRB 5159 broad.mit.edu 37 5 149499032 149499032 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:149499032C>T ENST00000261799.4 - 20 3265 c.2796G>A c.(2794-2796)gaG>gaA p.E932E NM_002609.3 NP_002600.1 P09619 PGFRB_HUMAN platelet-derived growth factor receptor, beta polypeptide 932 Protein kinase. aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1) 75 all_hematologic(541;0.224) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268) CCACTCACATCTCGTCGGAGG 0.507000 T """ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP""" """MPD, AML, CMML, CML""" 48 175 0 0 1 0 0 ITGAD 3681 broad.mit.edu 37 16 31427906 31427906 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr16:31427906G>A ENST00000389202.2 + 20 2487 c.2438G>A c.(2437-2439)gGa>gAa p.G813E NM_005353.2 NP_005344.2 Q13349 ITAD_HUMAN integrin, alpha D 813 cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway integrin complex receptor activity breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 71 GATTCCTACGGAACCGTGGTC 0.617000 6 174 0 0 1 0 0 CEP128 145508 broad.mit.edu 37 14 81304614 81304614 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr14:81304614C>T ENST00000555265.1 - 11 1233 c.858G>A c.(856-858)caG>caA p.Q286Q CEP128_ENST00000281129.3_Silent_p.Q286Q|CEP128_ENST00000216517.6_Silent_p.Q286Q Q6ZU80 CE128_HUMAN centrosomal protein 128kDa 286 centriole|spindle pole NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 51 GCTCCAATTCCTGTTCAAGCT 0.348000 8 83 0 0 1 0 0 MAST4 375449 broad.mit.edu 37 5 66461774 66461774 + Missense_Mutation SNP C C A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:66461774C>A ENST00000404260.3 + 29 7084 c.6776C>A c.(6775-6777)tCc>tAc p.S2259Y MAST4_ENST00000403625.2_Missense_Mutation_p.S2256Y|MAST4_ENST00000405643.1_Missense_Mutation_p.S2077Y|MAST4_ENST00000403666.1_Missense_Mutation_p.S2067Y|MAST4_ENST00000261569.7_Missense_Mutation_p.S2062Y O15021 MAST4_HUMAN microtubule associated serine/threonine kinase family member 4 2259 cytoplasm ATP binding|magnesium ion binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2) 13 Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245) Lung(70;0.011) ACCCCAGGCTCCCAGAACAAA 0.617000 38 72 1.48646e-12 1.49727e-12 1 1 0 FAM135B 51059 broad.mit.edu 37 8 139278008 139278008 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:139278008C>T ENST00000395297.1 - 4 405 c.235G>A c.(235-237)Gaa>Aaa p.E79K NM_015912.3 NP_056996.2 Q49AJ0 F135B_HUMAN family with sequence similarity 135, member B 79 NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 238 all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0805) GGTACCTCTTCATTCCGGTAT 0.483000 HNSCC(54;0.14) 46 86 0 0 1 0 0 NID2 22795 broad.mit.edu 37 14 52481779 52481779 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr14:52481779G>A ENST00000216286.5 - 15 3242 c.3243C>T c.(3241-3243)acC>acT p.T1081T NID2_ENST00000541773.1_Silent_p.T980T NM_007361.3 NP_031387.3 Q14112 NID2_HUMAN nidogen 2 (osteonidogen) 1081 Thyroglobulin type-1 2. basement membrane calcium ion binding|collagen binding NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 87 Breast(41;0.0639)|all_epithelial(31;0.123) TACACGCAGGGGTGGTGCCTG 0.632000 6 27 0 0 1 0 0 NLRP9 338321 broad.mit.edu 37 19 56244186 56244186 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:56244186G>A ENST00000332836.2 - 2 1038 c.1011C>T c.(1009-1011)ccC>ccT p.P337P NM_176820.2 NP_789790.2 Q7RTR0 NALP9_HUMAN NLR family, pyrin domain containing 9 337 NACHT. cytoplasm ATP binding p.P337P(1) NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3) 74 Colorectal(82;0.000133)|Ovarian(87;0.133) GBM - Glioblastoma multiforme(193;0.123) AGCACGTAAAGGGATTATGGC 0.428000 53 132 0 0 1 0 0 PDE4B 5142 broad.mit.edu 37 1 66458599 66458599 + Nonsense_Mutation SNP A A T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:66458599A>T ENST00000423207.2 + 1 495 c.10A>T c.(10-12)Aaa>Taa p.K4* PDE4B_ENST00000329654.4_Intron|PDE4B_ENST00000371049.3_Intron NM_001037340.1 NP_001032417.1 Q07343 PDE4B_HUMAN phosphodiesterase 4B, cAMP-specific 0 signal transduction cytosol|insoluble fraction|soluble fraction 3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3) 37 Adenosine monophosphate(DB00131)|Amrinone(DB01427)|Caffeine(DB00201)|Cilostazol(DB01166)|Dyphylline(DB00651)|Enprofylline(DB00824)|Papaverine(DB01113)|Pentoxifylline(DB00806)|Theophylline(DB00277) CATGACAGCAAAAGATTCTTC 0.413000 11 49 0 0 1 0 0 SHBG 6462 broad.mit.edu 37 17 7536130 7536130 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:7536130C>T ENST00000380450.4 + 7 944 c.913C>T c.(913-915)Cct>Tct p.P305S SHBG_ENST00000570547.1_Intron|SHBG_ENST00000416273.3_Intron|SHBG_ENST00000340624.5_Intron|SHBG_ENST00000576478.1_Intron|SHBG_ENST00000572262.1_Missense_Mutation_p.P193S|SHBG_ENST00000576728.1_Intron|SHBG_ENST00000572182.1_Intron|SHBG_ENST00000575314.1_Missense_Mutation_p.P247S|SHBG_ENST00000575903.1_Missense_Mutation_p.P287S|SHBG_ENST00000441599.2_Intron|SHBG_ENST00000574539.1_Intron NM_001040.3 NP_001031.2 P04278 SHBG_HUMAN sex hormone-binding globulin 305 Laminin G-like 2. hormone transport extracellular region androgen binding|protein homodimerization activity p.0?(1)|p.?(1) cervix(1)|endometrium(2)|large_intestine(4)|lung(2)|skin(1) 10 all_cancers(10;0.0867) READ - Rectum adenocarcinoma(115;0.168) Danazol(DB01406)|Dromostanolone(DB00858)|Estradiol(DB00783)|Estrone(DB00655)|Fluoxymesterone(DB01185)|Hydrocortisone(DB00741)|Mitotane(DB00648)|Norethindrone(DB00717)|Testosterone(DB00624) CTTGGGACTCCCTCTTCAGCT 0.597000 OREG0024140 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 46 82 0 0 1 0 0 PCDH15 65217 broad.mit.edu 37 10 55600246 55600246 + Missense_Mutation SNP G G A rs111033363 byFrequency TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:55600246G>A ENST00000373965.2 - 30 4232 c.3838C>T c.(3838-3840)Cgc>Tgc p.R1280C PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000437009.1_Missense_Mutation_p.R1202C|PCDH15_ENST00000395445.1_Missense_Mutation_p.R1280C|PCDH15_ENST00000395433.1_Missense_Mutation_p.R1251C|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395430.1_Missense_Mutation_p.R1273C|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000395432.2_Missense_Mutation_p.R1236C|PCDH15_ENST00000395438.1_Missense_Mutation_p.R1273C|PCDH15_ENST00000409834.1_Missense_Mutation_p.R884C|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000361849.3_Missense_Mutation_p.R1273C|PCDH15_ENST00000414778.1_Missense_Mutation_p.R1278C|PCDH15_ENST00000320301.6_Missense_Mutation_p.R1273C NM_001142771.1|NM_001142772.1 NP_001136243.1|NP_001136244.1 Q96QU1 PCD15_HUMAN protocadherin-related 15 1273 equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1) 237 Melanoma(3;0.117)|Lung SC(717;0.238) TGAACATAGCGATCCAAGATC 0.408000 HNSCC(58;0.16) 18 37 0 0 1 0 0 OR6K6 128371 broad.mit.edu 37 1 158724933 158724933 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:158724933C>T ENST00000368144.2 + 1 424 c.328C>T c.(328-330)Ctg>Ttg p.L110L NM_001005184.1 NP_001005184.1 Q8NGW6 OR6K6_HUMAN olfactory receptor, family 6, subfamily K, member 6 110 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|large_intestine(5)|lung(17)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 all_hematologic(112;0.0378) CCCCAAGATGCTGTCCTGCCT 0.512000 104 128 0 0 1 0 0 PZP 5858 broad.mit.edu 37 12 9303316 9303316 + Silent SNP G G T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:9303316G>T ENST00000261336.2 - 34 4336 c.4308C>A c.(4306-4308)tcC>tcA p.S1436S PZP_ENST00000381997.2_Silent_p.S1222S NM_002864.2 NP_002855.2 pregnancy-zone protein breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5) 102 GAACCATGAAGGAAAAACTTA 0.383000 21 71 7.45023e-12 7.50246e-12 1 1 0 SSPO 23145 broad.mit.edu 37 7 149518047 149518047 + RNA SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:149518047G>A ENST00000378016.2 + 0 12390 A2VEC9 SSPO_HUMAN SCO-spondin cell adhesion extracellular space peptidase inhibitor activity Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) GGGCCCCGGGGAGCCAGCACC 0.687000 8 20 0 0 1 0 0 BAD 572 broad.mit.edu 37 11 64037596 64037596 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:64037596G>A ENST00000544785.1 - 2 401 c.401C>T c.(400-402)gCc>gTc p.A134V BAD_ENST00000309032.3_3'UTR|BAD_ENST00000394532.3_3'UTR Q92934 BAD_HUMAN BCL2-associated agonist of cell death 0 activation of pro-apoptotic gene products|ADP metabolic process|ATP metabolic process|cellular response to hypoxia|cellular response to mechanical stimulus|cellular response to nicotine|glucose homeostasis|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|pore complex assembly|positive regulation of epithelial cell proliferation|positive regulation of glucokinase activity|positive regulation of insulin secretion|positive regulation of mitochondrial membrane potential|positive regulation of type B pancreatic cell development|regulation of mitochondrial membrane permeability|type B pancreatic cell proliferation cytosol|mitochondrial outer membrane caspase activator activity|phospholipid binding|protein kinase binding central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(1) 4 TTTTGCATAGGCCTGAGGGAA 0.602000 7 19 0 0 1 0 0 TCF4 6925 broad.mit.edu 37 18 52937100 52937100 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr18:52937100G>A ENST00000354452.3 - 11 1495 c.884C>T c.(883-885)tCc>tTc p.S295F TCF4_ENST00000564228.1_Missense_Mutation_p.S224F|TCF4_ENST00000537856.3_Missense_Mutation_p.S165F|TCF4_ENST00000570177.2_Missense_Mutation_p.S165F|TCF4_ENST00000567880.1_Missense_Mutation_p.S235F|TCF4_ENST00000565018.2_Missense_Mutation_p.S295F|TCF4_ENST00000563760.1_5'UTR|TCF4_ENST00000564403.2_Missense_Mutation_p.S301F|TCF4_ENST00000561992.1_Missense_Mutation_p.S165F|TCF4_ENST00000537578.1_Missense_Mutation_p.S271F|TCF4_ENST00000568740.1_Missense_Mutation_p.S270F|TCF4_ENST00000540999.1_Missense_Mutation_p.S271F|TCF4_ENST00000356073.4_Missense_Mutation_p.S295F|TCF4_ENST00000568673.1_Missense_Mutation_p.S271F|TCF4_ENST00000564999.1_Missense_Mutation_p.S295F|TCF4_ENST00000457482.3_Missense_Mutation_p.S135F|TCF4_ENST00000566279.1_Missense_Mutation_p.S235F|TCF4_ENST00000543082.1_Missense_Mutation_p.S253F|TCF4_ENST00000398339.1_Missense_Mutation_p.S397F|TCF4_ENST00000566286.1_Missense_Mutation_p.S293F|TCF4_ENST00000544241.2_Missense_Mutation_p.S224F|TCF4_ENST00000561831.3_Missense_Mutation_p.S135F|TCF4_ENST00000570287.2_Missense_Mutation_p.S135F NM_001083962.1 NP_001077431.1 P15884 ITF2_HUMAN transcription factor 4 295 positive regulation of neuron differentiation|protein-DNA complex assembly|transcription initiation from RNA polymerase II promoter transcription factor complex E-box binding|protein C-terminus binding|protein heterodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding RNA polymerase recruiting transcription factor activity|TFIIB-class binding transcription factor activity|TFIIB-class transcription factor binding breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1) 41 Colorectal(16;0.00108)|READ - Rectum adenocarcinoma(59;0.0649)|COAD - Colon adenocarcinoma(17;0.0718) AGGCGTACAGGAAGAGGTGCT 0.458000 4 102 0 0 1 0 0 COL4A5 1287 broad.mit.edu 37 X 107865093 107865093 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chrX:107865093C>T ENST00000328300.6 + 32 2982 c.2738C>T c.(2737-2739)cCt>cTt p.P913L COL4A5_ENST00000361603.2_Missense_Mutation_p.P913L NM_033380.2 NP_203699.1 P29400 CO4A5_HUMAN collagen, type IV, alpha 5 913 Triple-helical region. axon guidance collagen type IV extracellular matrix structural constituent|protein binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 99 TTGGGAATTCCTGGCAGGAGT 0.418000 Alport syndrome with Diffuse Leiomyomatosis 14 12 0 0 1 0 0 HEPACAM2 253012 broad.mit.edu 37 7 92837898 92837898 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:92837898G>A ENST00000394468.2 - 4 1084 c.1007C>T c.(1006-1008)tCc>tTc p.S336F HEPACAM2_ENST00000341723.4_Missense_Mutation_p.S324F|HEPACAM2_ENST00000453812.2_Missense_Mutation_p.S359F|HEPACAM2_ENST00000440868.1_Missense_Mutation_p.S324F NM_001039372.1 NP_001034461.1 A8MVW5 HECA2_HUMAN HEPACAM family member 2 336 integral to membrane breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(4)|skin(1) 28 CATACCTACGGAAGTGATGAT 0.418000 63 121 0 0 1 0 0 GALNT5 11227 broad.mit.edu 37 2 158114620 158114620 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:158114620G>A ENST00000259056.4 + 1 511 c.26G>A c.(25-27)cGa>cAa p.R9Q NM_014568.1 NP_055383.1 Q7Z7M9 GALT5_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 5 (GalNAc-T5) 9 glycosaminoglycan biosynthetic process Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding breast(4)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2) 56 AAGTTTTTCCGAGGAAGTGGG 0.502000 4 170 0 0 1 0 0 INSL6 11172 broad.mit.edu 37 9 5164065 5164065 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:5164065C>T ENST00000381641.3 - 2 555 c.490G>A c.(490-492)Ggg>Agg p.G164R INSL6_ENST00000510407.1_Intron NM_007179.2 NP_009110.2 Q9Y581 INSL6_HUMAN insulin-like 6 164 extracellular region hormone activity breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(2) 15 all_hematologic(13;0.137) Breast(48;0.147)|Acute lymphoblastic leukemia(23;0.158) GBM - Glioblastoma multiforme(50;0.0128)|Lung(218;0.145) GGATGATGCCCCCAAAACAAA 0.318000 4 61 0 0 1 0 0 ZNF43 7594 broad.mit.edu 37 19 21990825 21990825 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:21990825G>A ENST00000594012.1 - 7 2510 c.1996C>T c.(1996-1998)Cat>Tat p.H666Y ZNF43_ENST00000354959.4_Missense_Mutation_p.H672Y|ZNF43_ENST00000598381.1_Missense_Mutation_p.H666Y|ZNF43_ENST00000595461.1_Missense_Mutation_p.H666Y NM_001256649.1|NM_001256651.1|NM_001256653.1|NM_001256654.1 NP_001243578.1|NP_001243580.1|NP_001243582.1|NP_001243583.1 P17038 ZNF43_HUMAN zinc finger protein 43 672 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2) 51 Renal(1328;0.000219)|Hepatocellular(1079;0.121) GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127) TCTCCAGTATGAATTATCTTA 0.368000 32 74 0 0 1 0 0 AKAP1 8165 broad.mit.edu 37 17 55184421 55184421 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:55184421C>T ENST00000337714.3 + 2 1829 c.1596C>T c.(1594-1596)atC>atT p.I532I AKAP1_ENST00000571629.1_Silent_p.I532I|AKAP1_ENST00000314126.3_Silent_p.I532I|AKAP1_ENST00000539273.1_Silent_p.I532I|AKAP1_ENST00000572557.1_Silent_p.I532I NM_003488.3 NP_003479.1 Q92667 AKAP1_HUMAN A kinase (PRKA) anchor protein 1 532 blood coagulation cytosol|integral to membrane|mitochondrial outer membrane protein binding|RNA binding endometrium(2)|liver(1)|lung(7)|ovary(2)|pancreas(1)|skin(1) 14 Breast(9;5.46e-08) ACAAGGCCATCACCCCGCCAC 0.577000 79 282 0 0 1 0 0 CHRDL1 91851 broad.mit.edu 37 X 110035366 110035366 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chrX:110035366G>A ENST00000218054.4 - 2 240 c.44C>T c.(43-45)tCg>tTg p.S15L CHRDL1_ENST00000482160.1_Missense_Mutation_p.S15L|CHRDL1_ENST00000372042.1_Missense_Mutation_p.S15L|CHRDL1_ENST00000434224.1_Missense_Mutation_p.S15L|CHRDL1_ENST00000372045.1_Missense_Mutation_p.S9L|CHRDL1_ENST00000394797.4_Missense_Mutation_p.S15L|CHRDL1_ENST00000444321.2_Missense_Mutation_p.S15L NM_001143981.1|NM_001143982.1|NM_145234.3 NP_001137453.1|NP_001137454.1|NP_660277.2 Q9BU40 CRDL1_HUMAN chordin-like 1 9 BMP signaling pathway|cell differentiation|nervous system development|ossification extracellular region endometrium(1)|large_intestine(12)|liver(1)|lung(15)|prostate(1)|skin(1) 31 GAACAACAACGAAAAGATGTA 0.353000 31 9 0 0 1 0 0 BMP7 655 broad.mit.edu 37 20 55758781 55758781 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr20:55758781C>T ENST00000395863.3 - 4 1460 c.955G>A c.(955-957)Gca>Aca p.A319T BMP7_ENST00000450594.2_Missense_Mutation_p.A319T|BMP7_ENST00000395864.3_Intron|BMP7_ENST00000460817.1_5'UTR NM_001719.2 NP_001710.1 P18075 BMP7_HUMAN bone morphogenetic protein 7 319 BMP signaling pathway|cartilage development|cellular response to hypoxia|epithelial to mesenchymal transition|growth|mesonephros development|negative regulation of glomerular mesangial cell proliferation|negative regulation of MAP kinase activity|negative regulation of mitosis|negative regulation of neuron differentiation|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of phosphorylation|negative regulation of striated muscle cell apoptosis|negative regulation of transcription, DNA-dependent|ossification|pathway-restricted SMAD protein phosphorylation|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|protein localization to nucleus|regulation of removal of superoxide radicals|SMAD protein signal transduction|steroid hormone mediated signaling pathway|ureteric bud development extracellular space cytokine activity|growth factor activity endometrium(4)|kidney(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1) 20 all_lung(29;0.0133)|Melanoma(10;0.242) BRCA - Breast invasive adenocarcinoma(4;2.49e-13)|Epithelial(14;1.74e-08)|all cancers(14;2.05e-07) AGCATACCTGCCACGTTGGCC 0.637000 60 83 0 0 1 0 0 CNTNAP2 26047 broad.mit.edu 37 7 146829338 146829338 + Splice_Site SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:146829338G>A ENST00000361727.3 + 8 1601 c.1083_splice c.e8-1 p.G362_splice NM_014141.5 NP_054860.1 Q9UHC6 CNTP2_HUMAN contactin associated protein-like 2 362 Laminin G-like 1. behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex receptor binding p.G362E(1) NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3) 188 Melanoma(164;0.153) all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794) OV - Ovarian serous cystadenocarcinoma(82;0.0319) ATTTTACAGGGAAATTTGAGC 0.433000 HNSCC(39;0.1) 45 180 0 0 1 0 0 ANGPTL7 10218 broad.mit.edu 37 1 11253778 11253778 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:11253778G>A ENST00000376819.3 + 3 858 c.619G>A c.(619-621)Gaa>Aaa p.E207K MTOR_ENST00000361445.4_Intron|ANGPTL7_ENST00000476934.1_3'UTR NM_021146.2 NP_066969.1 O43827 ANGL7_HUMAN angiopoietin-like 7 207 Fibrinogen C-terminal. response to oxidative stress|signal transduction extracellular region receptor binding endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|skin(2)|stomach(1) 10 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.000818)|all_lung(284;0.00105)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.39e-06)|COAD - Colon adenocarcinoma(227;0.000244)|BRCA - Breast invasive adenocarcinoma(304;0.000294)|Kidney(185;0.000728)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0487) GCTGGGGAACGAACACATCCA 0.597000 23 46 0 0 1 0 0 GSTK1 373156 broad.mit.edu 37 7 142965201 142965201 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:142965201C>T ENST00000479303.1 + 6 781 c.723C>T c.(721-723)atC>atT p.I241I GSTK1_ENST00000358406.5_Silent_p.I185I|GSTK1_ENST00000443571.2_Silent_p.I142I|GSTK1_ENST00000409500.3_Silent_p.I173I|AC073342.12_ENST00000427392.1_RNA NM_001143679.1 NP_001137151.1 Q9Y2Q3 GSTK1_HUMAN glutathione S-transferase kappa 1 185 outer membrane-bounded periplasmic space|peroxisome glutathione transferase activity|identical protein binding|protein disulfide oxidoreductase activity lung(4) 4 Melanoma(164;0.059) Glutathione(DB00143) GGCTGCCCATCACCGTGGCCC 0.517000 18 921 0 0 1 0 0 STAP1 26228 broad.mit.edu 37 4 68424574 68424574 + Missense_Mutation SNP A A C TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:68424574A>C ENST00000265404.2 + 1 129 c.47A>C c.(46-48)cAg>cCg p.Q16P STAP1_ENST00000396225.1_Missense_Mutation_p.Q16P NM_012108.2 NP_036240.1 Q9ULZ2 STAP1_HUMAN signal transducing adaptor family member 1 16 cellular membrane fusion|intracellular protein transport cytoplasm NS(1)|large_intestine(1)|liver(1)|lung(7)|skin(1)|urinary_tract(1) 12 AGGATCTTCCAGGAAAGGTTA 0.418000 11 184 0 0 1 0 0 ZBTB20 26137 broad.mit.edu 37 3 114069800 114069800 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:114069800G>A ENST00000462705.1 - 11 1727 c.906C>T c.(904-906)ttC>ttT p.F302F ZBTB20_ENST00000357258.3_Silent_p.F302F|ZBTB20_ENST00000481632.1_Silent_p.F302F|ZBTB20_ENST00000393785.2_Silent_p.F302F|ZBTB20_ENST00000471418.1_Silent_p.F302F|ZBTB20_ENST00000464560.1_Silent_p.F302F|ZBTB20_ENST00000474710.1_Silent_p.F375F NM_001164343.1 NP_001157815.1 Q9HC78 ZBT20_HUMAN zinc finger and BTB domain containing 20 375 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 48 LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191) CGCCCGAGTCGAAGCTTTCAC 0.637000 22 65 0 0 1 0 0 PCDHA5 56143 broad.mit.edu 37 5 140202016 140202016 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:140202016C>T ENST00000529859.1 + 1 656 c.656C>T c.(655-657)cCc>cTc p.P219L PCDHA5_ENST00000378126.3_Missense_Mutation_p.P219L|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Missense_Mutation_p.P219L|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron NM_018908.2 NP_061731.1 NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3) 60 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGAGGAAAACCCGAACTAACA 0.363000 45 97 0 0 1 0 0 KIAA0586 9786 broad.mit.edu 37 14 58895036 58895036 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr14:58895036G>A ENST00000354386.6 + 2 334 c.90G>A c.(88-90)gtG>gtA p.V30V KIAA0586_ENST00000556134.1_Silent_p.V3V|KIAA0586_ENST00000423743.3_Intron|KIAA0586_ENST00000261244.5_Silent_p.V18V NM_001244189.1 NP_001231118.1 E9PGW8 E9PGW8_HUMAN KIAA0586 18 endometrium(4)|kidney(6)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 AGATGCCAGTGAAGAGACTTC 0.408000 14 43 0 0 1 0 0 STX2 2054 broad.mit.edu 37 12 131306331 131306331 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:131306331C>T ENST00000261653.6 - 3 274 c.108G>A c.(106-108)gtG>gtA p.V36V STX2_ENST00000392373.2_Silent_p.V36V NM_001980.3 NP_001971.2 P32856 STX2_HUMAN syntaxin 2 36 acrosome reaction|ectoderm development|intracellular protein transport|organ morphogenesis|signal transduction basolateral plasma membrane|integral to membrane|microsome|soluble fraction calcium-dependent protein binding|SNAP receptor activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|prostate(1) 16 all_neural(191;0.0982)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;2.79e-06)|all cancers(50;5.27e-05)|Epithelial(86;5.29e-05) TAATCTCCTCCACCTAGGAGA 0.378000 20 22 0 0 1 0 0 TRIM49 57093 broad.mit.edu 37 11 89531486 89531486 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:89531486G>A ENST00000329758.1 - 8 1499 c.1171C>T c.(1171-1173)Ctc>Ttc p.L391F TRIM49_ENST00000532501.2_Missense_Mutation_p.L314F NM_020358.2 NP_065091.1 P0CI25 TRI49_HUMAN tripartite motif containing 49 391 B30.2/SPRY. intracellular zinc ion binding breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(14)|prostate(1)|skin(2)|stomach(1) 27 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556) GTGGTAAAGAGACTGCATTGA 0.423000 64 198 0 0 1 0 0 PRKAR1A 5573 broad.mit.edu 37 17 66520180 66520180 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:66520180C>T ENST00000589228.1 + 5 592 c.464C>T c.(463-465)tCg>tTg p.S155L PRKAR1A_ENST00000586397.1_Missense_Mutation_p.S155L|PRKAR1A_ENST00000588188.2_Missense_Mutation_p.S155L|PRKAR1A_ENST00000358598.2_Missense_Mutation_p.S155L|PRKAR1A_ENST00000536854.2_Missense_Mutation_p.S155L|PRKAR1A_ENST00000392711.1_Missense_Mutation_p.S155L NM_001276289.1|NM_001278433.1 NP_001263218.1|NP_001265362.1 P10644 KAP0_HUMAN protein kinase, cAMP-dependent, regulatory, type I, alpha 155 activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|intracellular signal transduction|nerve growth factor receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter|transmembrane transport|water transport cAMP-dependent protein kinase complex|cytosol cAMP binding|cAMP-dependent protein kinase regulator activity|protein binding adrenal_gland(4)|breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(8)|soft_tissue(2)|stomach(2)|testis(1)|thyroid(2)|upper_aerodigestive_tract(1) 31 Breast(10;1.64e-13) GCCATGTTTTCGGTCTCCTTT 0.418000 """T, Mis, N, F, S""" RET papillary thyroid """myxoma, endocrine, papillary thyroid""" Primary Pigmented Nodular Adrenocortical Disease, Familial;Carney Complex;Cardiac Myxomas, Familial Clustering of 53 190 0 0 1 0 0 TENM1 10178 broad.mit.edu 37 X 123517545 123517545 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chrX:123517545G>A ENST00000422452.2 - 30 7299 c.7236C>T c.(7234-7236)ctC>ctT p.L2412L STAG2_ENST00000469481.1_Intron|TENM1_ENST00000371130.3_Silent_p.L2405L NM_001163278.1|NM_001163279.1 NP_001156750.1|NP_001156751.1 teneurin transmembrane protein 1 CAAAGGAGTAGAGGTTGAATG 0.378000 8 99 0 0 1 0 0 PLEKHH1 57475 broad.mit.edu 37 14 68045978 68045978 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr14:68045978C>T ENST00000329153.5 + 21 3109 c.2977C>T c.(2977-2979)Cac>Tac p.H993Y PLEKHH1_ENST00000417684.2_5'UTR NM_020715.2 NP_065766.1 Q9ULM0 PKHH1_HUMAN pleckstrin homology domain containing, family H (with MyTH4 domain) member 1 993 cytoskeleton binding endometrium(2)|kidney(4)|lung(12)|urinary_tract(1) 19 all cancers(60;0.000771)|OV - Ovarian serous cystadenocarcinoma(108;0.00502)|BRCA - Breast invasive adenocarcinoma(234;0.011) CCCCTTCCACCACTCCTTGCC 0.637000 15 15 0 0 1 0 0 KRT33B 3884 broad.mit.edu 37 17 39521192 39521192 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:39521192G>A ENST00000251646.3 - 6 985 c.936C>T c.(934-936)tcC>tcT p.S312S NM_002279.4 NP_002270.1 Q14525 KT33B_HUMAN keratin 33B 312 Coil 2.|Rod. intermediate filament protein binding|structural molecule activity NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(6)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1) 21 Breast(137;0.000496) TCTGCACCTGGGACAGCTGGG 0.597000 35 83 0 0 1 0 0 SDAD1P1 157489 broad.mit.edu 37 8 26237000 26237000 + RNA SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:26237000C>T ENST00000519902.1 - 0 2948 TCTGGCTATACCACATCATCA 0.363000 17 38 0 0 1 0 0 DHCR24 1718 broad.mit.edu 37 1 55340874 55340874 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:55340874G>A ENST00000371269.3 - 4 602 c.504C>T c.(502-504)atC>atT p.I168I DHCR24_ENST00000535035.1_Silent_p.I127I|DHCR24_ENST00000537443.1_5'UTR NM_014762.3 NP_055577.1 Q15392 DHC24_HUMAN 24-dehydrocholesterol reductase 168 FAD-binding PCMH-type. anti-apoptosis|apoptosis|cell cycle arrest|cholesterol biosynthetic process|negative regulation of caspase activity|neuroprotection|response to oxidative stress|skin development endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nucleus delta24-sterol reductase activity|enzyme binding|flavin adenine dinucleotide binding|peptide antigen binding large_intestine(2)|liver(1)|lung(1)|pancreas(1)|prostate(1)|skin(1) 7 CTGTGCCCATGATCAAGCCCC 0.587000 41 64 0 0 1 0 0 ZC3H13 23091 broad.mit.edu 37 13 46584555 46584555 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr13:46584555G>A ENST00000242848.4 - 7 1022 c.674C>T c.(673-675)cCg>cTg p.P225L ZC3H13_ENST00000470308.1_5'UTR|ZC3H13_ENST00000282007.3_Missense_Mutation_p.P225L Q5T200 ZC3HD_HUMAN zinc finger CCCH-type containing 13 225 Ser-rich. nucleic acid binding|zinc ion binding cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 79 Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;4.18e-05) AGACGACTTCGGGCTTGATTT 0.428000 45 91 0 0 1 0 0 TMTC2 160335 broad.mit.edu 37 12 83526040 83526040 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:83526040C>T ENST00000549919.1 + 13 4170 c.2365C>T c.(2365-2367)Ctc>Ttc p.L789F TMTC2_ENST00000321196.3_Missense_Mutation_p.L795F Q8N394 TMTC2_HUMAN transmembrane and tetratricopeptide repeat containing 2 795 endoplasmic reticulum|integral to membrane binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|urinary_tract(1) 39 CAATGGCAGACTCCAGAAGGC 0.507000 22 46 0 0 1 0 0 TTC29 83894 broad.mit.edu 37 4 147741367 147741367 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:147741367C>T ENST00000513335.1 - 11 1288 c.1089G>A c.(1087-1089)ttG>ttA p.L363L TTC29_ENST00000398886.4_Silent_p.L363L|TTC29_ENST00000325106.4_Silent_p.L337L Q8NA56 TTC29_HUMAN tetratricopeptide repeat domain 29 337 binding breast(2)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 26 all_hematologic(180;0.151) CAAATTTTTTCAAGTATTTAA 0.343000 16 33 0 0 1 0 0 TSHR 7253 broad.mit.edu 37 14 81610028 81610028 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr14:81610028G>A ENST00000541158.2 + 11 1948 c.1626G>A c.(1624-1626)atG>atA p.M542I RP11-114N19.3_ENST00000557775.1_RNA|TSHR_ENST00000298171.2_Missense_Mutation_p.M542I P16473 TSHR_HUMAN thyroid stimulating hormone receptor 542 cell-cell signaling|positive regulation of cell proliferation integral to plasma membrane protein binding|thyroid-stimulating hormone receptor activity breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(2)|stomach(1)|thyroid(291)|upper_aerodigestive_tract(1) 337 BRCA - Breast invasive adenocarcinoma(234;0.0402) Thyrotropin Alfa(DB00024) GTGCCATCATGGTTGGGGGCT 0.577000 Mis toxic thyroid adenoma thyroid adenoma Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism 32 88 0 0 1 0 0 ZNF667 63934 broad.mit.edu 37 19 56969561 56969561 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:56969561G>A ENST00000591790.1 - 4 1644 c.216C>T c.(214-216)ccC>ccT p.P72P ZNF667_ENST00000292069.6_Silent_p.P72P|ZNF667_ENST00000504904.3_Silent_p.P72P|ZNF667_ENST00000342634.3_Silent_p.P165P Q5HYK9 ZN667_HUMAN zinc finger protein 667 72 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3) 38 Colorectal(82;0.000256)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0615) CTACCATCCAGGGTGCTTTCC 0.493000 27 47 0 0 1 0 0 SREBF2 6721 broad.mit.edu 37 22 42264652 42264652 + Silent SNP C C T rs149336069 TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr22:42264652C>T ENST00000361204.4 + 3 742 c.576C>T c.(574-576)tcC>tcT p.S192S NM_004599.2 NP_004590.2 Q12772 SRBP2_HUMAN sterol regulatory element binding transcription factor 2 192 Gln-rich. cholesterol metabolic process ER to Golgi transport vesicle membrane|Golgi membrane|nucleus|SREBP-SCAP-Insig complex protein C-terminus binding NS(2)|breast(6)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 38 TGACATCCTCCCAGGTACAGC 0.582000 43 58 0 0 1 0 0 PLCXD2 257068 broad.mit.edu 37 3 111564677 111564677 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:111564677G>A ENST00000393934.3 + 4 1446 c.876G>A c.(874-876)ctG>ctA p.L292L PHLDB2_ENST00000393923.3_5'UTR|PLCXD2_ENST00000477665.1_3'UTR NM_153268.3 NP_695000.1 Q0VAA5 PLCX2_HUMAN phosphatidylinositol-specific phospholipase C, X domain containing 2 0 intracellular signal transduction|lipid catabolic process phospholipase C activity|signal transducer activity endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1) 17 GGCTGGCACTGATCCCAGTTT 0.463000 52 95 0 0 1 0 0 NGF 4803 broad.mit.edu 37 1 115828753 115828753 + Missense_Mutation SNP A A G TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:115828753A>G ENST00000369512.2 - 3 832 c.664T>C c.(664-666)Ttt>Ctt p.F222L RP4-663N10.1_ENST00000425449.1_RNA NM_002506.2 NP_002497.2 P01138 NGF_HUMAN nerve growth factor (beta polypeptide) 222 activation of MAPKK activity|activation of phospholipase C activity|anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|negative regulation of cell cycle|nerve growth factor processing|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|Ras protein signal transduction endosome|Golgi lumen growth factor activity|nerve growth factor receptor binding breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 13 Lung SC(450;0.211) all_cancers(81;1.07e-06)|all_epithelial(167;4.43e-06)|all_lung(203;2.86e-05)|Lung NSC(69;4.99e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179) Clenbuterol(DB01407) ATCCGGATAAACCGCCAGGCA 0.577000 10 112 0 0 1 0 0 TGM1 7051 broad.mit.edu 37 14 24727799 24727799 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr14:24727799C>T ENST00000206765.6 - 8 1363 c.1240G>A c.(1240-1242)Gac>Aac p.D414N TGM1_ENST00000544573.1_Intron NM_000359.2 NP_000350.1 P22735 TGM1_HUMAN transglutaminase 1 414 cell envelope organization|keratinization|peptide cross-linking cornified envelope|intrinsic to membrane acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2) 24 GBM - Glioblastoma multiforme(265;0.0186) L-Glutamine(DB00130) AAGTAGATGTCCATGGTAAGG 0.567000 24 47 0 0 1 0 0 METTL7B 196410 broad.mit.edu 37 12 56076015 56076015 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:56076015G>A ENST00000394252.3 + 1 686 c.477G>A c.(475-477)gaG>gaA p.E159E NM_152637.2 NP_689850.2 Q6UX53 MET7B_HUMAN methyltransferase like 7B 159 methyltransferase activity kidney(1)|large_intestine(1)|lung(4) 6 TCCTGCAGGAGGTCCGGAGAG 0.627000 14 41 0 0 1 0 0 TNFRSF13B 23495 broad.mit.edu 37 17 16843023 16843023 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:16843023G>A ENST00000437538.2 - 4 590 c.582C>T c.(580-582)ccC>ccT p.P194P TNFRSF13B_ENST00000579315.1_Intron|TNFRSF13B_ENST00000261652.2_Silent_p.P240P|TNFRSF13B_ENST00000583789.1_Silent_p.P194P O14836 TR13B_HUMAN tumor necrosis factor receptor superfamily, member 13B 240 cell surface receptor linked signaling pathway integral to plasma membrane protein binding|receptor activity endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(7)|skin(1) 16 TCTCCTGCGTGGGCGCCCTGC 0.667000 IgA Deficiency, Selective 6 60 0 0 1 0 0 LRRC17 10234 broad.mit.edu 37 7 102579963 102579963 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:102579963G>A ENST00000249377.4 + 3 1140 c.859G>A c.(859-861)Gaa>Aaa p.E287K FBXL13_ENST00000379308.3_Intron|FBXL13_ENST00000379305.3_Intron|FBXL13_ENST00000456695.1_Intron|FBXL13_ENST00000436908.1_Intron|FBXL13_ENST00000313221.4_Intron|FBXL13_ENST00000379306.3_Intron|LRRC17_ENST00000485478.1_3'UTR|FBXL13_ENST00000455112.2_Intron|LRRC17_ENST00000339431.4_Missense_Mutation_p.E287K|FBXL13_ENST00000393772.2_Intron NM_005824.2 NP_005815.2 Q8N6Y2 LRC17_HUMAN leucine rich repeat containing 17 287 bone marrow development|negative regulation of osteoclast differentiation|ossification extracellular space NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1) 17 TCGACCCAAGGAATTTGAAGA 0.383000 9 160 0 0 1 0 0 PKD1L2 114780 broad.mit.edu 37 16 81232477 81232477 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr16:81232477G>A ENST00000599697.1 - 7 1332 c.1333C>T c.(1333-1335)Cac>Tac p.H445Y PKD1L2_ENST00000337114.4_RNA|PKD1L2_ENST00000525539.1_RNA Q7Z442 PK1L2_HUMAN polycystic kidney disease 1-like 2 445 REJ. neuropeptide signaling pathway integral to membrane calcium ion binding|ion channel activity|sugar binding breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 TCCACCAAGTGGACTGTAATG 0.567000 6 171 0 0 1 0 0 MMP9 4318 broad.mit.edu 37 20 44639617 44639617 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr20:44639617C>T ENST00000372330.3 + 4 596 c.577C>T c.(577-579)Cct>Tct p.P193S NM_004994.2 NP_004985.2 P14780 MMP9_HUMAN matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase) 193 collagen catabolic process|macrophage differentiation|positive regulation of keratinocyte migration|proteolysis extracellular space|proteinaceous extracellular matrix collagen binding|metalloendopeptidase activity|zinc ion binding breast(2)|endometrium(4)|large_intestine(14)|liver(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3) 46 Myeloproliferative disorder(115;0.0122) Glucosamine(DB01296)|Marimastat(DB00786)|Minocycline(DB01017)|Simvastatin(DB00641) ACACGCCTTTCCTCCTGGCCC 0.617000 37 120 0 0 1 0 0 LAMA3 3909 broad.mit.edu 37 18 21501019 21501019 + Splice_Site SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr18:21501019G>A ENST00000313654.9 + 61 8284 c.e61+1 LAMA3_ENST00000269217.6_Splice_Site|LAMA3_ENST00000399516.3_Splice_Site|LAMA3_ENST00000588770.1_Splice_Site|LAMA3_ENST00000587184.1_Splice_Site NM_198129.1 NP_937762.1 Q16787 LAMA3_HUMAN laminin, alpha 3 cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4) 128 all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) AGACCATTCGGTACACCTTTT 0.388000 15 34 0 0 1 0 0 ARPC1A 10552 broad.mit.edu 37 7 98935818 98935818 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:98935818C>T ENST00000262942.5 + 3 203 c.79C>T c.(79-81)Ccc>Tcc p.P27S ARPC1A_ENST00000432884.2_5'UTR NM_001190996.1|NM_006409.3 NP_001177925.1|NP_006400.2 Q92747 ARC1A_HUMAN actin related protein 2/3 complex, subunit 1A, 41kDa 27 actin cytoskeleton organization|regulation of actin filament polymerization actin cytoskeleton|cytoplasm actin binding endometrium(3)|large_intestine(5)|liver(2)|lung(7)|ovary(1)|prostate(1) 19 all_cancers(62;4.46e-09)|all_epithelial(64;3.44e-10)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0258) STAD - Stomach adenocarcinoma(171;0.215) TGCCCTCAGTCCCAATAATCA 0.448000 18 35 0 0 1 0 0 FOLH1B 219595 broad.mit.edu 37 11 89402656 89402656 + RNA SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:89402656G>A ENST00000532352.1 + 0 893 Q9HBA9 FOH1B_HUMAN folate hydrolase 1B proteolysis cytoplasm dipeptidase activity|metal ion binding|metallopeptidase activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2) 48 GGCTTTACTGGAAACTTTTCT 0.373000 34 71 0 0 1 0 0 KALRN 8997 broad.mit.edu 37 3 124153173 124153173 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:124153173C>T ENST00000360013.3 + 17 2970 c.2843C>T c.(2842-2844)tCc>tTc p.S948F KALRN_ENST00000460856.1_Intron|KALRN_ENST00000240874.3_Missense_Mutation_p.S948F NM_001024660.3 NP_001019831.2 O60229 KALRN_HUMAN kalirin, RhoGEF kinase 948 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport actin cytoskeleton|cytosol ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 83 CATGCCACTTCCTTGCAGAAG 0.607000 24 63 0 0 1 0 0 SCRIB 23513 broad.mit.edu 37 8 144885822 144885822 + Missense_Mutation SNP A A T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:144885822A>T ENST00000356994.2 - 23 3415 c.3409T>A c.(3409-3411)Tcc>Acc p.S1137T SCRIB_ENST00000377533.3_Missense_Mutation_p.S1056T|SCRIB_ENST00000320476.3_Missense_Mutation_p.S1137T NM_182706.4 NP_874365.3 Q14160 SCRIB_HUMAN scribbled planar cell polarity protein 1137 Interaction with ARHGEF7.|PDZ 4. activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction cell-cell adherens junction|Scrib-APC-beta-catenin complex protein binding NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 42 all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18) CTCACCTTGGAGATGAAGATG 0.716000 4 12 0 0 1 0 0 HLCS 3141 broad.mit.edu 37 21 38302714 38302714 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr21:38302714G>A ENST00000399120.1 - 6 2246 c.1016C>T c.(1015-1017)cCc>cTc p.P339L HLCS_ENST00000336648.3_Missense_Mutation_p.P339L|HLCS_ENST00000482273.1_5'UTR NM_001242784.1 NP_001229713.1 P50747 BPL1_HUMAN holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase) 339 cell proliferation|histone biotinylation|response to biotin chromatin|cytosol|mitochondrion|nuclear lamina|nuclear matrix ATP binding|biotin binding|biotin-[acetyl-CoA-carboxylase] ligase activity|biotin-[methylcrotonoyl-CoA-carboxylase] ligase activity|biotin-[methylmalonyl-CoA-carboxytransferase] ligase activity|biotin-[propionyl-CoA-carboxylase (ATP-hydrolyzing)] ligase activity|enzyme binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1) 24 Myeloproliferative disorder(46;0.0422) Biotin(DB00121) GTTGGAGCTGGGAGGTAGTTC 0.403000 27 62 0 0 1 0 0 STON2 85439 broad.mit.edu 37 14 81737086 81737086 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr14:81737086C>T ENST00000555447.1 - 7 2953 c.2541G>A c.(2539-2541)gtG>gtA p.V847V STON2_ENST00000267540.2_Silent_p.V847V NM_001256430.1 NP_001243359.1 Q8WXE9 STON2_HUMAN stonin 2 847 MHD. endocytosis|intracellular protein transport|regulation of endocytosis clathrin adaptor complex|nucleolus protein binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|pancreas(2)|prostate(1)|skin(5) 34 BRCA - Breast invasive adenocarcinoma(234;0.0348) AGATAGATCTCACGCTGGCTT 0.507000 70 169 0 0 1 0 0 AGO4 192670 broad.mit.edu 37 1 36306778 36306778 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:36306778C>T ENST00000373210.3 + 14 1982 c.1737C>T c.(1735-1737)ttC>ttT p.F579F NM_017629.3 NP_060099.2 argonaute RISC catalytic component 4 CCTCGGTGTTCCAGCAGCCTG 0.488000 25 65 0 0 1 0 0 IQCE 23288 broad.mit.edu 37 7 2649684 2649684 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:2649684C>T ENST00000402050.2 + 22 2160 c.1976C>T c.(1975-1977)tCt>tTt p.S659F IQCE_ENST00000438376.2_Missense_Mutation_p.S643F|IQCE_ENST00000325979.7_Missense_Mutation_p.S594F|IQCE_ENST00000404984.1_Missense_Mutation_p.S608F NM_001100390.1|NM_152558.3 NP_001093860.1|NP_689771.3 Q6IPM2 IQCE_HUMAN IQ motif containing E 659 p.S659C(1) breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 Ovarian(82;0.0112) OV - Ovarian serous cystadenocarcinoma(56;1.23e-13) GCAGACCCCTCTCCCTCAGGG 0.602000 39 72 0 0 1 0 0 IGHV1-3 28473 broad.mit.edu 37 14 106471490 106471490 + RNA SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr14:106471490G>A ENST00000390595.2 - 0 148 AACCTTCACTGAGGCCCCAGG 0.577000 64 120 0 0 1 0 0 MC5R 4161 broad.mit.edu 37 18 13826476 13826476 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr18:13826476G>A ENST00000324750.3 + 1 934 c.712G>A c.(712-714)Gtc>Atc p.V238I NM_005913.2 NP_005904.1 P33032 MC5R_HUMAN melanocortin 5 receptor 238 G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process integral to plasma membrane melanocortin receptor activity|protein binding NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|upper_aerodigestive_tract(1) 41 GCAGGGCGCGGTCACCGTCAC 0.612000 6 302 0 0 1 0 0 OR4K5 79317 broad.mit.edu 37 14 20389429 20389429 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr14:20389429C>T ENST00000315915.4 + 1 689 c.664C>T c.(664-666)Ctt>Ttt p.L222F NM_001005483.1 NP_001005483.1 Q8NGD3 OR4K5_HUMAN olfactory receptor, family 4, subfamily K, member 5 222 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1) 47 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) CATCATTATTCTTGTTACAGT 0.403000 73 211 0 0 1 0 0 PRSS55 203074 broad.mit.edu 37 8 10387198 10387198 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:10387198C>T ENST00000328655.3 + 2 376 c.336C>T c.(334-336)tcC>tcT p.S112S PRSS51_ENST00000523024.1_RNA|PRSS55_ENST00000522210.1_Silent_p.S112S NM_198464.3 NP_940866.2 Q6UWB4 PRS55_HUMAN protease, serine, 55 112 Peptidase S1. proteolysis integral to membrane serine-type endopeptidase activity p.S112S(2) endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1) 31 GCTTATATTCCGAGGAGCTGT 0.592000 118 202 0 0 1 0 0 NLRP5 126206 broad.mit.edu 37 19 56544077 56544077 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:56544077C>T ENST00000390649.3 + 8 2377 c.2377C>T c.(2377-2379)Ctg>Ttg p.L793L NM_153447.4 NP_703148.4 P59047 NALP5_HUMAN NLR family, pyrin domain containing 5 793 mitochondrion|nucleolus ATP binding breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2) 25 Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157) GBM - Glioblastoma multiforme(193;0.0326) CAGCAGCATCCTGACAGAGCG 0.597000 11 111 0 0 1 0 0 DACH2 117154 broad.mit.edu 37 X 86087153 86087153 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chrX:86087153G>A ENST00000373125.4 + 12 1795 c.1795G>A c.(1795-1797)Gcc>Acc p.A599T DACH2_ENST00000510272.1_Missense_Mutation_p.A380T|DACH2_ENST00000373131.1_3'UTR|DACH2_ENST00000508860.1_Missense_Mutation_p.A432T NM_053281.3 NP_444511.1 Q96NX9 DACH2_HUMAN dachshund homolog 2 (Drosophila) 599 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|nucleotide binding breast(2)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(14)|lung(28)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3) 71 GTTGTATTCAGCCTGAAAGGT 0.338000 20 11 0 0 1 0 0 COG6 57511 broad.mit.edu 37 13 40273713 40273713 + Missense_Mutation SNP C C G TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr13:40273713C>G ENST00000416691.1 + 13 1342 c.1242C>G c.(1240-1242)ttC>ttG p.F414L COG6_ENST00000455146.3_Missense_Mutation_p.F414L NM_001145079.1 NP_001138551.1 Q9Y2V7 COG6_HUMAN component of oligomeric golgi complex 6 414 protein transport Golgi membrane|Golgi transport complex NS(1)|kidney(2)|large_intestine(5)|lung(4)|skin(1) 13 Lung NSC(96;0.000124)|Breast(139;0.0199)|Prostate(109;0.0233)|Lung SC(185;0.0367) all cancers(112;6.03e-09)|Epithelial(112;7e-07)|OV - Ovarian serous cystadenocarcinoma(117;0.00015)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.0168) AAAAAATATTCTTCAATAGCT 0.279000 6 68 0 0 1 0 0 AIM1L 55057 broad.mit.edu 37 1 26650699 26650699 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:26650699G>A ENST00000527815.1 - 17 2108 c.2059C>T c.(2059-2061)Ccc>Tcc p.P687S AIM1L_ENST00000308182.5_Missense_Mutation_p.P516S NM_001039775.3 NP_001034864.2 Q8N1P7 AIM1L_HUMAN absent in melanoma 1-like 516 sugar binding endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|pancreas(1)|skin(2) 12 all_cancers(24;4.67e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.51e-27)|Colorectal(126;1.61e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000792)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|STAD - Stomach adenocarcinoma(196;0.00154)|GBM - Glioblastoma multiforme(114;0.00858)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.165)|LUSC - Lung squamous cell carcinoma(448;0.239) CCAGCTTGGGGGTCGGCGACC 0.612000 39 99 0 0 1 0 0 MTUS2 23281 broad.mit.edu 37 13 29599315 29599315 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr13:29599315G>A ENST00000431530.3 + 1 568 c.510G>A c.(508-510)aaG>aaA p.K170K NM_001033602.2 NP_001028774.2 Q5JR59 MTUS2_HUMAN microtubule associated tumor suppressor candidate 2 160 cytoplasm|microtubule microtubule binding|protein homodimerization activity NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1) 20 ATGTTCCCAAGGATAAACTGG 0.517000 33 79 0 0 1 0 0 KMT2A 4297 broad.mit.edu 37 11 118348798 118348798 + Nonsense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:118348798C>T ENST00000534358.1 + 5 3474 c.3451C>T c.(3451-3453)Cga>Tga p.R1151* KMT2A_ENST00000389506.5_Nonsense_Mutation_p.R1151*|KMT2A_ENST00000354520.4_Nonsense_Mutation_p.R1151* NM_001197104.1|NM_005933.3 NP_001184033.1|NP_005924.2 lysine (K)-specific methyltransferase 2A GAAAGGACGTCGATCGAGGCG 0.512000 101 92 0 0 1 0 0 CRB1 23418 broad.mit.edu 37 1 197404432 197404432 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:197404432C>T ENST00000367397.1 + 5 2440 c.1582C>T c.(1582-1584)Ccc>Tcc p.P528S CRB1_ENST00000544212.1_Missense_Mutation_p.P628S|CRB1_ENST00000367399.2_Missense_Mutation_p.P1035S|CRB1_ENST00000367400.3_Missense_Mutation_p.P1147S|CRB1_ENST00000538660.1_Intron|CRB1_ENST00000535699.1_Missense_Mutation_p.P1123S P82279 CRUM1_HUMAN crumbs homolog 1 (Drosophila) 1147 Laminin G-like 1. cell-cell signaling|establishment or maintenance of cell polarity apical plasma membrane|extracellular region|integral to membrane calcium ion binding|protein binding NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2) 132 CAACTCCAACCCCTGTTTGCA 0.428000 45 53 0 0 1 0 0 AGAP1 116987 broad.mit.edu 37 2 237032685 237032685 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:237032685C>T ENST00000409538.1 + 17 3625 c.3129C>T c.(3127-3129)ttC>ttT p.F1043F AGAP1_ENST00000304032.7_Silent_p.F831F|AGAP1_ENST00000428334.2_Silent_p.F670F|AGAP1_ENST00000336665.5_Silent_p.F778F Q9UPQ3 AGAP1_HUMAN ArfGAP with GTPase domain, ankyrin repeat and PH domain 1 831 protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction cytoplasm ARF GTPase activator activity|GTP binding|zinc ion binding breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 41 ACGAGCGCTTCGTGCTCATGG 0.637000 21 71 0 0 1 0 0 TSC1 7248 broad.mit.edu 37 9 135798865 135798865 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:135798865G>A ENST00000298552.3 - 6 599 c.378C>T c.(376-378)gtC>gtT p.V126V TSC1_ENST00000440111.2_Silent_p.V126V|TSC1_ENST00000403810.1_Silent_p.V126V|TSC1_ENST00000545250.1_Silent_p.V75V|TSC1_ENST00000475903.1_5'UTR NM_000368.4|NM_001162426.1|NM_001162427.1 NP_000359.1|NP_001155898.1|NP_001155899.1 Q92574 TSC1_HUMAN tuberous sclerosis 1 126 activation of Rho GTPase activity|cell cycle arrest|cell-matrix adhesion|insulin receptor signaling pathway|negative regulation of cell proliferation|negative regulation of protein ubiquitination|negative regulation of TOR signaling cascade|negative regulation of translation|positive regulation of focal adhesion assembly|regulation of phosphoprotein phosphatase activity|regulation of stress fiber assembly|rRNA export from nucleus cell cortex|lamellipodium|membrane|TSC1-TSC2 complex chaperone binding|protein N-terminus binding NS(1)|bone(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(9)|lung(20)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 65 OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06) TGAGGACAACGACGTCAGTGT 0.473000 """D, Mis, N, F, S""" """hamartoma, renal cell""" Tuberous Sclerosis 34 61 0 0 1 0 0 WSCD2 9671 broad.mit.edu 37 12 108589711 108589711 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:108589711C>T ENST00000332082.4 + 3 920 c.102C>T c.(100-102)ttC>ttT p.F34F WSCD2_ENST00000549903.1_Silent_p.F34F|WSCD2_ENST00000547525.1_Silent_p.F34F|WSCD2_ENST00000261400.3_Silent_p.F34F Q2TBF2 WSCD2_HUMAN WSC domain containing 2 34 integral to membrane breast(4)|endometrium(3)|kidney(1)|large_intestine(16)|liver(2)|lung(23)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 57 GCCTTGTCTTCCTTCACTCTG 0.607000 72 159 0 0 1 0 0 WBSCR17 64409 broad.mit.edu 37 7 71175845 71175845 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:71175845C>T ENST00000333538.5 + 10 2234 c.1600C>T c.(1600-1602)Cgg>Tgg p.R534W WBSCR17_ENST00000498380.2_3'UTR NM_022479.1 NP_071924.1 Q6IS24 GLTL3_HUMAN Williams-Beuren syndrome chromosome region 17 534 Ricin B-type lectin. Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 100 all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125) CTCCAAGAGTCGGCTGCCCCA 0.617000 33 104 0 0 1 0 0 LRTM1 57408 broad.mit.edu 37 3 54958676 54958676 + Missense_Mutation SNP T T C TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:54958676T>C ENST00000273286.5 - 2 736 c.574A>G c.(574-576)Aaa>Gaa p.K192E CACNA2D3_ENST00000490478.1_Intron|CACNA2D3_ENST00000288197.5_Intron|LRTM1_ENST00000493075.1_Missense_Mutation_p.K116E|CACNA2D3_ENST00000474759.1_Intron|CACNA2D3_ENST00000415676.2_Intron NM_020678.2 NP_065729.1 Q9HBL6 LRTM1_HUMAN leucine-rich repeats and transmembrane domains 1 192 LRRCT. integral to membrane breast(1)|endometrium(2)|large_intestine(7)|lung(6)|prostate(1)|skin(4) 21 KIRC - Kidney renal clear cell carcinoma(284;0.00975)|Kidney(284;0.0112)|OV - Ovarian serous cystadenocarcinoma(275;0.0502) AGCCAGAGTTTAAGACCGAGC 0.473000 43 113 0 0 1 0 0 CDKL5 6792 broad.mit.edu 37 X 18593566 18593566 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chrX:18593566C>T ENST00000379989.3 + 6 523 c.238C>T c.(238-240)Cgt>Tgt p.R80C CDKL5_ENST00000379996.3_Missense_Mutation_p.R80C NM_001037343.1 NP_001032420.1 O76039 CDKL5_HUMAN cyclin-dependent kinase-like 5 80 Protein kinase. neuron migration|positive regulation of axon extension|positive regulation of dendrite morphogenesis|positive regulation of Rac GTPase activity|protein autophosphorylation dendrite cytoplasm|dendritic growth cone|nucleus ATP binding|cyclin-dependent protein kinase activity|Rac GTPase binding NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|skin(5)|stomach(1) 44 Hepatocellular(33;0.183) GGAAGCATTTCGTCGGAGGGG 0.383000 8 150 0 0 1 0 0 ICOSLG 23308 broad.mit.edu 37 21 45656910 45656910 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr21:45656910G>A ENST00000407780.3 - 3 373 c.246C>T c.(244-246)aaC>aaT p.N82N ICOSLG_ENST00000400377.3_Intron|ICOSLG_ENST00000344330.4_Silent_p.N82N|ICOSLG_ENST00000400379.3_Silent_p.N82N O75144 ICOSL_HUMAN inducible T-cell co-stimulator ligand 82 Ig-like V-type. B cell activation|defense response|hyperosmotic response|positive regulation of activated T cell proliferation|signal transduction|T cell activation|T cell costimulation receptor binding endometrium(2)|lung(1)|stomach(1)|urinary_tract(1) 5 Colorectal(79;0.0163)|READ - Rectum adenocarcinoma(84;0.0772) TCAGGGCTCGGTTCCGGTAGC 0.572000 44 81 0 0 1 0 0 HSPG2 3339 broad.mit.edu 37 1 22222440 22222440 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:22222440G>A ENST00000374695.3 - 3 298 c.219C>T c.(217-219)gaC>gaT p.D73D NM_005529.5 NP_005520.4 P98160 PGBM_HUMAN heparan sulfate proteoglycan 2 73 angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process basement membrane|extracellular space|plasma membrane protein C-terminus binding breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3) 127 Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223) Becaplermin(DB00102)|Palifermin(DB00039) CGCTGCCCAGGTCCCCACTGC 0.567000 17 38 0 0 1 0 0 SLC34A2 10568 broad.mit.edu 37 4 25667781 25667781 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:25667781C>T ENST00000382051.3 + 5 461 c.411C>T c.(409-411)agC>agT p.S137S SLC34A2_ENST00000503434.1_Silent_p.S136S|SLC34A2_ENST00000510033.2_3'UTR|SLC34A2_ENST00000504570.1_Silent_p.S136S NM_001177998.1|NM_006424.2 NP_001171469.1|NP_006415.2 O95436 NPT2B_HUMAN solute carrier family 34 (type II sodium/phosphate contransporter), member 2 137 cellular phosphate ion homeostasis apical plasma membrane|brush border membrane|integral to plasma membrane phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity SLC34A2/ROS1(14) breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4) 41 Breast(46;0.0503) TCAGCAACAGCTCTATTATGT 0.502000 T ROS1 NSCLC 5 173 0 0 1 0 0 FRAS1 80144 broad.mit.edu 37 4 79373471 79373471 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:79373471G>A ENST00000264895.6 + 47 7166 c.6726G>A c.(6724-6726)caG>caA p.Q2242Q NM_025074.6 NP_079350.5 Q86XX4 FRAS1_HUMAN Fraser syndrome 1 2241 cell communication integral to membrane|plasma membrane metal ion binding breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4) 103 TCACCAGACAGCCCCAGCTGG 0.468000 22 39 0 0 1 0 0 PCLO 27445 broad.mit.edu 37 7 82544968 82544968 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:82544968C>T ENST00000423517.2 - 7 12671 c.12334G>A c.(12334-12336)Gaa>Aaa p.E4112K PCLO_ENST00000333891.8_Missense_Mutation_p.E4112K|PCLO_ENST00000437081.1_Missense_Mutation_p.E832K NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 4043 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 ATTGGGTCTTCCTCCGCCTTC 0.458000 25 55 0 0 1 0 0 PCDH17 27253 broad.mit.edu 37 13 58298999 58298999 + Silent SNP T T C TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr13:58298999T>C ENST00000377918.3 + 4 3077 c.3051T>C c.(3049-3051)ccT>ccC p.P1017P NM_001040429.2 NP_001035519.1 O14917 PCD17_HUMAN protocadherin 17 1017 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding|protein binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 120 Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132) GBM - Glioblastoma multiforme(99;1.06e-05) ACGTTAAACCTTATTTAAAAG 0.478000 43 90 0 0 1 0 0 TRPV5 56302 broad.mit.edu 37 7 142625936 142625936 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:142625936G>A ENST00000265310.1 - 6 960 c.612C>T c.(610-612)atC>atT p.I204I TRPV5_ENST00000442623.1_Silent_p.I204I NM_019841.4 NP_062815.2 Q9NQA5 TRPV5_HUMAN transient receptor potential cation channel, subfamily V, member 5 204 protein tetramerization apical plasma membrane|integral to plasma membrane calcium channel activity NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 67 Melanoma(164;0.059) TGGGCTGGAGGATGAGGATGT 0.567000 10 137 0 0 1 0 0 OR8D2 283160 broad.mit.edu 37 11 124189174 124189174 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:124189174C>T ENST00000357438.2 - 1 1010 c.920G>A c.(919-921)gGa>gAa p.G307E NM_001002918.1 NP_001002918.1 Q9GZM6 OR8D2_HUMAN olfactory receptor, family 8, subfamily D, member 2 307 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 25 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0525) TGACTGCCTTCCCCTAGTCAT 0.398000 37 44 0 0 1 0 0 APOB 338 broad.mit.edu 37 2 21225942 21225942 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:21225942C>T ENST00000233242.1 - 29 12479 c.12352G>A c.(12352-12354)Ggg>Agg p.G4118R NM_000384.2 NP_000375.2 P04114 APOB_HUMAN apolipoprotein B 4118 cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6) 305 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) CTAATGGCCCCTTGATAAACC 0.498000 92 155 0 0 1 0 0 RRBP1 6238 broad.mit.edu 37 20 17640885 17640885 + Missense_Mutation SNP G G C rs142509336 TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr20:17640885G>C ENST00000377813.1 - 3 571 c.268C>G c.(268-270)Ccc>Gcc p.P90A RRBP1_ENST00000246043.4_Missense_Mutation_p.P90A|RRBP1_ENST00000455029.2_Intron|RRBP1_ENST00000360807.4_Missense_Mutation_p.P90A|RRBP1_ENST00000377807.2_Missense_Mutation_p.P90A Q9P2E9 RRBP1_HUMAN ribosome binding protein 1 90 protein transport|translation|transmembrane transport integral to endoplasmic reticulum membrane|ribosome receptor activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(6) 28 GTCACATTGGGGGCTGGATCA 0.517000 10 17 0 0 1 0 0 LRRC18 474354 broad.mit.edu 37 10 50122126 50122126 + Silent SNP A A G TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:50122126A>G ENST00000374160.3 - 1 151 c.75T>C c.(73-75)acT>acC p.T25T LRRC18_ENST00000298124.3_Silent_p.T25T|WDFY4_ENST00000413659.2_Intron|WDFY4_ENST00000325239.5_Intron|RP11-523O18.7_ENST00000430438.1_RNA NM_001006939.3 NP_001006940.3 Q8N456 LRC18_HUMAN leucine rich repeat containing 18 25 cytoplasm NS(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1) 18 TCCCATCAAAAGTGATTTTGA 0.478000 4 87 0 0 1 0 0 KRTAP10-10 353333 broad.mit.edu 37 21 46058021 46058021 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr21:46058021C>T ENST00000380095.1 + 1 749 c.687C>T c.(685-687)ctC>ctT p.L229L TSPEAR_ENST00000323084.4_Intron NM_181688.1 NP_859016.1 P60014 KR10A_HUMAN keratin associated protein 10-10 229 keratin filament NS(1)|endometrium(2)|kidney(1)|lung(6)|prostate(1)|skin(2) 13 GTGTTTCCCTCCTCTGCCGCC 0.682000 48 133 0 0 1 0 0 DENND4A 10260 broad.mit.edu 37 15 66010216 66010216 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr15:66010216G>A ENST00000443035.3 - 13 1922 c.1707C>T c.(1705-1707)ttC>ttT p.F569F DENND4A_ENST00000431932.2_Silent_p.F569F NM_001144823.1 NP_001138295.1 Q7Z401 MYCPP_HUMAN DENN/MADD domain containing 4A 569 dDENN. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(11)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 51 TAGAGGCCATGAAAAACAAAA 0.388000 3 12 0 0 1 0 0 MIR496 574454 broad.mit.edu 37 14 101526987 101526987 + RNA SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr14:101526987C>T ENST00000385226.1 + 0 78 NR_030176.1 GGCCAATCTCCTTTCGGTACT 0.527000 7 13 0 0 1 0 0 ACMSD 130013 broad.mit.edu 37 2 135621041 135621041 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:135621041G>A ENST00000356140.5 + 5 462 c.326G>A c.(325-327)aGg>aAg p.R109K AC016725.4_ENST00000392929.2_RNA|ACMSD_ENST00000392928.1_Missense_Mutation_p.R51K|ACMSD_ENST00000283054.4_Missense_Mutation_p.R51K NM_138326.2 NP_612199.2 Q8TDX5 ACMSD_HUMAN aminocarboxymuconate semialdehyde decarboxylase 109 quinolinate metabolic process|tryptophan catabolic process cytosol aminocarboxymuconate-semialdehyde decarboxylase activity|metal ion binding endometrium(3)|large_intestine(4)|lung(6)|skin(1) 14 BRCA - Breast invasive adenocarcinoma(221;0.115) AGCTACCCCAGGAGGTTCGTG 0.577000 49 74 0 0 1 0 0 DGAT2L6 347516 broad.mit.edu 37 X 69424922 69424922 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chrX:69424922G>A ENST00000333026.3 + 7 1080 c.980G>A c.(979-981)gGc>gAc p.G327D NM_198512.1 NP_940914.1 Q6ZPD8 DG2L6_HUMAN diacylglycerol O-acyltransferase 2-like 6 327 lipid biosynthetic process endoplasmic reticulum membrane|integral to membrane acyltransferase activity breast(1)|endometrium(2)|large_intestine(3)|lung(5)|ovary(1) 12 GTTGAATATGGCCTCCCTGAG 0.488000 6 25 0 0 1 0 0 FAM49A 81553 broad.mit.edu 37 2 16743311 16743311 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:16743311C>T ENST00000381323.3 - 6 617 c.397G>A c.(397-399)Gaa>Aaa p.E133K FAM49A_ENST00000355549.2_Missense_Mutation_p.E133K|FAM49A_ENST00000406434.1_Missense_Mutation_p.E133K NM_030797.3 NP_110424.1 Q9H0Q0 FA49A_HUMAN family with sequence similarity 49, member A 133 intracellular breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|skin(3)|upper_aerodigestive_tract(1) 23 Acute lymphoblastic leukemia(172;0.0734)|all_hematologic(175;0.088) GBM - Glioblastoma multiforme(3;0.00969) TGTAAAATTTCGGCAAACTCC 0.423000 27 77 0 0 1 0 0 ASTN1 460 broad.mit.edu 37 1 176934312 176934312 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:176934312C>T ENST00000367654.2 - 9 1622 c.1609G>A c.(1609-1611)Gat>Aat p.D537N ASTN1_ENST00000367657.3_Missense_Mutation_p.D529N|ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000361833.2_Missense_Mutation_p.D529N|ASTN1_ENST00000424564.2_Missense_Mutation_p.D529N O14525 ASTN1_HUMAN astrotactin 1 537 cell migration|neuron cell-cell adhesion integral to membrane NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3) 153 AATATTTTATCAGAGGGCTGC 0.423000 56 147 0 0 1 0 0 CA10 56934 broad.mit.edu 37 17 50212269 50212269 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:50212269C>T ENST00000340813.6 - 2 478 c.49G>A c.(49-51)Gaa>Aaa p.E17K CA10_ENST00000442502.2_Intron|CA10_ENST00000451037.2_Intron|CA10_ENST00000285273.4_Intron|CA10_ENST00000570565.1_Intron Q9NS85 CAH10_HUMAN carbonic anhydrase X 0 brain development cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|skin(3)|stomach(2)|urinary_tract(1) 41 BRCA - Breast invasive adenocarcinoma(22;4.74e-06) atacacagttcatcaggctct 0.557000 24 69 0 0 1 0 0 SLC38A5 92745 broad.mit.edu 37 X 48320450 48320450 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chrX:48320450G>A ENST00000376876.3 - 10 1557 c.714C>T c.(712-714)ctC>ctT p.L238L SLC38A5_ENST00000376875.1_Silent_p.L187L|SLC38A5_ENST00000317669.5_Silent_p.L238L Q8WUX1 S38A5_HUMAN solute carrier family 38, member 5 238 cellular nitrogen compound metabolic process|ion transport integral to membrane|plasma membrane breast(1)|cervix(1)|endometrium(6)|large_intestine(2)|lung(5)|ovary(3)|skin(1) 19 CTTGGCTGGGGAGTCCCACGA 0.542000 18 8 0 0 1 0 0 PEX5 5830 broad.mit.edu 37 12 7344185 7344185 + Missense_Mutation SNP G G T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:7344185G>T ENST00000266563.5 + 5 520 c.337G>T c.(337-339)Gcc>Tcc p.A113S PEX5_ENST00000420616.2_Missense_Mutation_p.A113S|PEX5_ENST00000545220.1_3'UTR|PEX5_ENST00000412720.2_Missense_Mutation_p.A134S|PEX5_ENST00000266564.3_Missense_Mutation_p.A113S|PEX5_ENST00000455147.2_Missense_Mutation_p.A113S|PEX5_ENST00000434354.2_Missense_Mutation_p.A128S NM_001131024.1 NP_001124496.1 P50542 PEX5_HUMAN peroxisomal biogenesis factor 5 113 protein import into peroxisome matrix, translocation|protein targeting to peroxisome|protein tetramerization|protein transport cytosol|peroxisomal matrix|peroxisomal membrane peroxisome matrix targeting signal-1 binding|protein C-terminus binding|protein N-terminus binding breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1) 21 GGCAGACTTGGCCTTGTCTGA 0.458000 5 71 0.217242 0.217279 1 1 0 ZNF573 126231 broad.mit.edu 37 19 38230841 38230841 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:38230841G>A ENST00000339503.4 - 8 877 c.376C>T c.(376-378)Cat>Tat p.H126Y ZNF573_ENST00000536220.1_Missense_Mutation_p.H96Y|ZNF573_ENST00000392138.1_Missense_Mutation_p.H97Y|ZNF573_ENST00000357309.3_Missense_Mutation_p.H96Y|ZNF573_ENST00000590414.2_Missense_Mutation_p.H184Y NM_152360.3 NP_689573.3 Q86YE8 ZN573_HUMAN zinc finger protein 573 164 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|cervix(3)|endometrium(2)|large_intestine(8)|liver(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)|Lung(45;0.0813)|LUSC - Lung squamous cell carcinoma(53;0.146) TCACCAGTATGAAATCTTTGA 0.398000 64 108 0 0 1 0 0 TXNDC2 84203 broad.mit.edu 37 18 9887263 9887263 + Nonsense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr18:9887263C>T ENST00000306084.6 + 2 986 c.787C>T c.(787-789)Cag>Tag p.Q263* TXNDC2_ENST00000357775.4_Nonsense_Mutation_p.Q196*|TXNDC2_ENST00000536353.2_Intron NM_001098529.1 NP_001091999.1 Q86VQ3 TXND2_HUMAN thioredoxin domain containing 2 (spermatozoa) 263 22 X 15 AA approximate tandem repeat of Q-P-K-X-G-D-I-P-K-S-[PS]-E-[KE]-X-I. cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis cytoplasm electron carrier activity|nutrient reservoir activity|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1) 31 AAAGCCCATCCAGCCCAAGCT 0.587000 6 361 0 0 1 0 0 TTBK2 146057 broad.mit.edu 37 15 43067873 43067873 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr15:43067873G>A ENST00000267890.6 - 13 1566 c.1458C>T c.(1456-1458)ctC>ctT p.L486L NM_173500.3 NP_775771.3 Q6IQ55 TTBK2_HUMAN tau tubulin kinase 2 486 cell death ATP binding|protein serine/threonine kinase activity NS(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(2) 43 all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216) GBM - Glioblastoma multiforme(94;3.23e-07) GCAGAGCAGGGAGAATAGATT 0.438000 11 118 0 0 1 0 0 AHSA1 10598 broad.mit.edu 37 14 77931932 77931932 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr14:77931932C>T ENST00000216479.3 + 6 772 c.612C>T c.(610-612)atC>atT p.I204I AHSA1_ENST00000535854.2_Silent_p.I204I|AHSA1_ENST00000555457.1_Intron NM_012111.2 NP_036243.1 O95433 AHSA1_HUMAN AHA1, activator of heat shock 90kDa protein ATPase homolog 1 (yeast) 204 protein folding|response to stress cytosol|endoplasmic reticulum ATPase activator activity|chaperone binding endometrium(1)|kidney(3)|large_intestine(1)|prostate(1)|skin(1)|stomach(1) 8 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0281) GAGTCAAAATCCCCACTTGTA 0.458000 36 81 0 0 1 0 0 ARID1A 8289 broad.mit.edu 37 1 27092826 27092826 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:27092826C>T ENST00000324856.7 + 9 3218 c.2847C>T c.(2845-2847)tcC>tcT p.S949S ARID1A_ENST00000457599.2_Silent_p.S949S|ARID1A_ENST00000374152.2_Silent_p.S566S NM_006015.4 NP_006006.3 O14497 ARI1A_HUMAN AT rich interactive domain 1A (SWI-like) 949 androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent nBAF complex|npBAF complex|SWI/SNF complex DNA binding|protein binding ARID1A/MAST2_ENST00000361297(2) NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24) 411 all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242) CCCCATATTCCATGGGTGGAA 0.468000 """Mis, N, F, S, D""" """clear cell ovarian carcinoma, RCC""" 6 170 0 0 1 0 0 ZDBF2 57683 broad.mit.edu 37 2 207170001 207170001 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:207170001C>T ENST00000374423.3 + 5 1135 c.749C>T c.(748-750)tCg>tTg p.S250L NM_020923.1 NP_065974.1 Q9HCK1 ZDBF2_HUMAN zinc finger, DBF-type containing 2 250 nucleic acid binding|zinc ion binding endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 95 ACTTCATTTTCGTATCAGAAA 0.358000 15 29 0 0 1 0 0 IQUB 154865 broad.mit.edu 37 7 123092877 123092877 + Missense_Mutation SNP C C A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:123092877C>A ENST00000466202.1 - 13 2872 c.2296G>T c.(2296-2298)Ggt>Tgt p.G766C IQUB_ENST00000324698.6_Missense_Mutation_p.G766C Q8NA54 IQUB_HUMAN IQ motif and ubiquitin domain containing 766 breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(3)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1) 45 TCAATTTCACCATCATCAAGT 0.383000 24 60 2.44723e-14 2.46629e-14 1 1 0 RIMBP3 85376 broad.mit.edu 37 22 20457977 20457977 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr22:20457977G>A ENST00000426804.1 - 1 3809 c.3325C>T c.(3325-3327)Cct>Tct p.P1109S NM_015672.1 NP_056487.1 RIMS binding protein 3 breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(1)|prostate(1)|skin(1)|urinary_tract(1) 13 Colorectal(54;0.0993)|Melanoma(16;0.165) LUSC - Lung squamous cell carcinoma(15;0.0405)|Lung(15;0.224) ATGGTCACAGGGAGCCAGCTG 0.602000 13 30 0 0 1 0 0 TRIOBP 11078 broad.mit.edu 37 22 38120474 38120474 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr22:38120474C>T ENST00000406386.3 + 7 2166 c.1911C>T c.(1909-1911)tcC>tcT p.S637S RP1-37E16.12_ENST00000455236.1_RNA NM_001039141.2 NP_001034230.1 Q9H2D6 TARA_HUMAN TRIO and F-actin binding protein 637 actin modification|barbed-end actin filament capping actin cytoskeleton|cytoplasm|nucleus actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 12 Melanoma(58;0.0574) CCAGAGCCTCCTCTCCCAACA 0.577000 61 158 0 0 1 0 0 DARC 2532 broad.mit.edu 37 1 159176222 159176222 + Silent SNP C C T rs14525 TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:159176222C>T ENST00000537147.1 + 3 1836 c.993C>T c.(991-993)acC>acT p.T331T DARC_ENST00000368121.2_Silent_p.T333T|DARC_ENST00000368122.2_Silent_p.T331T Q16570 DUFFY_HUMAN Duffy blood group, atypical chemokine receptor 331 defense response integral to membrane|plasma membrane C-C chemokine binding|chemokine receptor activity large_intestine(2)|lung(1)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 8 all_hematologic(112;0.0429) ATCTGGACACCCTTGGAAGCA 0.547000 12 651 0 0 1 0 0 COL4A2 1284 broad.mit.edu 37 13 111082781 111082781 + Nonsense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr13:111082781C>T ENST00000360467.5 + 9 889 c.583C>T c.(583-585)Cag>Tag p.Q195* COL4A2_ENST00000462309.1_3'UTR NM_001846.2 NP_001837.2 P08572 CO4A2_HUMAN collagen, type IV, alpha 2 195 Triple-helical region. angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis collagen type IV extracellular matrix structural constituent|protein binding NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 80 all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922) Breast(118;0.212) BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151) GGTCGGTTTCCAGGTAAGTTT 0.363000 32 51 0 0 1 0 0 SP8 221833 broad.mit.edu 37 7 20825329 20825329 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:20825329G>A ENST00000361443.4 - 3 290 c.53C>T c.(52-54)tCc>tTc p.S18F SP8_ENST00000418710.2_Missense_Mutation_p.S36F NM_198956.2 NP_945194.1 Q8IXZ3 SP8_HUMAN Sp8 transcription factor 18 Ser-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|central_nervous_system(1)|large_intestine(2)|lung(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 8 GTCCGAGAGGGAGGAGGGAGA 0.597000 19 75 0 0 1 0 0 SAG 6295 broad.mit.edu 37 2 234243682 234243682 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:234243682G>A ENST00000409110.1 + 11 1111 c.881G>A c.(880-882)aGg>aAg p.R294K SAG_ENST00000449594.2_Missense_Mutation_p.R160K NM_000541.4 NP_000532.2 P10523 ARRS_HUMAN S-antigen; retina and pineal gland (arrestin) 294 rhodopsin mediated phototransduction|rhodopsin mediated signaling pathway protein phosphatase inhibitor activity cervix(1)|kidney(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1) 9 Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.018)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.054) Epithelial(121;2.86e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00608)|Lung(119;0.00714)|GBM - Glioblastoma multiforme(43;0.207) AATCGAGAAAGGAGAGGCATT 0.527000 12 121 0 0 1 0 0 PELP1 27043 broad.mit.edu 37 17 4576586 4576586 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:4576586G>A ENST00000301396.4 - 15 2461 c.2236C>T c.(2236-2238)Ctg>Ttg p.L746L PELP1_ENST00000269230.7_Silent_p.P514P|PELP1_ENST00000574876.1_Silent_p.L602L|PELP1_ENST00000572293.1_Silent_p.L652L|PELP1_ENST00000436683.2_Silent_p.L455L Q8IZL8 PELP1_HUMAN proline, glutamate and leucine rich protein 1 602 Pro-rich. transcription, DNA-dependent cytoplasm|MLL1 complex protein binding breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 15 AAGGCTTGCAGGGCACAGGCA 0.622000 7 8 0 0 1 0 0 PSMF1 9491 broad.mit.edu 37 20 1115874 1115874 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr20:1115874C>T ENST00000335877.6 + 4 652 c.476C>T c.(475-477)cCc>cTc p.P159L PSMF1_ENST00000484891.1_3'UTR|PSMF1_ENST00000381898.4_Missense_Mutation_p.P71L|PSMF1_ENST00000333082.3_Missense_Mutation_p.P159L|PSMF1_ENST00000438768.2_Intron|PSMF1_ENST00000246015.4_Missense_Mutation_p.P159L NM_006814.3 NP_006805.2 Q92530 PSMF1_HUMAN proteasome (prosome, macropain) inhibitor subunit 1 (PI31) 159 Pro-rich. anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction proteasome core complex endopeptidase inhibitor activity|protein binding endometrium(1)|kidney(1)|large_intestine(3)|lung(8) 13 CGGGAGTTCCCCCCTGCTACC 0.577000 25 45 0 0 1 0 0 ABCB4 5244 broad.mit.edu 37 7 87082282 87082282 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:87082282C>T ENST00000265723.4 - 6 625 c.514G>A c.(514-516)Gaa>Aaa p.E172K ABCB4_ENST00000453593.1_Missense_Mutation_p.E172K|ABCB4_ENST00000545634.1_Missense_Mutation_p.E172K|ABCB4_ENST00000359206.3_Missense_Mutation_p.E172K|ABCB4_ENST00000358400.3_Missense_Mutation_p.E172K NM_000443.3|NM_018849.2 NP_000434.1|NP_061337.1 P21439 MDR3_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 4 172 ABC transmembrane type-1 1. cellular lipid metabolic process apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction ATP binding|xenobiotic-transporting ATPase activity breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 77 Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203) GTATTGAGTTCAGTGGTGTCG 0.368000 48 137 0 0 1 0 0 NOVA1 4857 broad.mit.edu 37 14 26917327 26917327 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr14:26917327C>T ENST00000539517.2 - 5 1679 c.1362G>A c.(1360-1362)agG>agA p.R454R NOVA1_ENST00000267422.7_Silent_p.R332R|NOVA1_ENST00000465357.2_Silent_p.R430R NM_002515.2 NP_002506.2 P51513 NOVA1_HUMAN neuro-oncological ventral antigen 1 457 KH 3. locomotory behavior|RNA splicing|synaptic transmission nucleus RNA binding breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 40 GBM - Glioblastoma multiforme(265;0.0135) AGATCTGTATCCTTGCACCAG 0.433000 20 37 0 0 1 0 0 ZNF804B 219578 broad.mit.edu 37 7 88963644 88963644 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:88963644G>A ENST00000333190.4 + 4 1957 c.1348G>A c.(1348-1350)Gat>Aat p.D450N NM_181646.2 NP_857597.1 A4D1E1 Z804B_HUMAN zinc finger protein 804B 450 intracellular zinc ion binding NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9) 144 all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151) STAD - Stomach adenocarcinoma(171;0.0513) TCAAAGCAAGGATGGCCACAC 0.398000 HNSCC(36;0.09) 4 121 0 0 1 0 0 TBC1D9 23158 broad.mit.edu 37 4 141578904 141578904 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:141578904C>T ENST00000442267.2 - 12 2058 c.1984G>A c.(1984-1986)Gac>Aac p.D662N NM_015130.2 NP_055945.2 Q6ZT07 TBCD9_HUMAN TBC1 domain family, member 9 (with GRAM domain) 662 Rab-GAP TBC. intracellular calcium ion binding|Rab GTPase activator activity endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1) 31 all_hematologic(180;0.162) Medulloblastoma(177;0.00498) TGCATGCAGTCGTACAGCTGT 0.522000 64 132 0 0 1 0 0 SLC2A5 6518 broad.mit.edu 37 1 9101801 9101801 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:9101801G>A ENST00000377414.3 - 5 681 c.614C>T c.(613-615)aCt>aTt p.T205I SLC2A5_ENST00000536305.1_Intron|SLC2A5_ENST00000535586.1_Intron|SLC2A5_ENST00000377424.4_Intron NM_001135585.1 NP_001129057.1 P22732 GTR5_HUMAN solute carrier family 2 (facilitated glucose/fructose transporter), member 5 38 carbohydrate metabolic process integral to membrane|plasma membrane fructose transmembrane transporter activity|glucose transmembrane transporter activity endometrium(6)|kidney(15)|large_intestine(6)|lung(4)|ovary(1)|pancreas(2)|prostate(1)|urinary_tract(1) 36 Ovarian(185;0.112)|all_lung(157;0.185) all_epithelial(116;1.34e-15)|all_lung(118;9.46e-05)|Lung NSC(185;0.000172)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.00715)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.78e-07)|COAD - Colon adenocarcinoma(227;8.83e-05)|Kidney(185;0.000286)|KIRC - Kidney renal clear cell carcinoma(229;0.00103)|STAD - Stomach adenocarcinoma(132;0.0019)|BRCA - Breast invasive adenocarcinoma(304;0.00199)|READ - Rectum adenocarcinoma(331;0.0649) GCCAAGGGTAGTGGTGAAGGG 0.567000 19 32 0 0 1 0 0 FGD2 221472 broad.mit.edu 37 6 36995880 36995880 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:36995880G>A ENST00000274963.8 + 16 2080 c.1909G>A c.(1909-1911)Gag>Aag p.E637K NM_173558.3 NP_775829.2 Q7Z6J4 FGD2_HUMAN FYVE, RhoGEF and PH domain containing 2 637 PH 2. actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction cytoskeleton|cytosol|early endosome membrane|Golgi apparatus|lamellipodium|nucleus|ruffle membrane metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1) 25 GAAGGCCATGGAGCGGGCGGC 0.687000 14 53 0 0 1 0 0 LAMA4 3910 broad.mit.edu 37 6 112537580 112537580 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:112537580C>T ENST00000230538.7 - 3 683 c.286G>A c.(286-288)Gga>Aga p.G96R LAMA4_ENST00000431543.2_Missense_Mutation_p.G96R|LAMA4_ENST00000389463.4_Missense_Mutation_p.G96R|LAMA4_ENST00000424408.2_Missense_Mutation_p.G96R|LAMA4_ENST00000522006.1_Missense_Mutation_p.G96R|LAMA4_ENST00000524032.1_5'UTR NM_001105206.2 NP_001098676.2 Q16363 LAMA4_HUMAN laminin, alpha 4 96 Laminin EGF-like 1. cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex extracellular matrix structural constituent|receptor binding NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8) 100 all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209) all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242) ACACAGTATCCTGAGCCGTCC 0.463000 56 22 0 0 1 0 0 CADPS2 93664 broad.mit.edu 37 7 122091514 122091514 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:122091514C>T ENST00000334010.7 - 14 2626 c.2205G>A c.(2203-2205)ggG>ggA p.G735G CADPS2_ENST00000449022.2_Silent_p.G734G|CADPS2_ENST00000412584.2_Silent_p.G731G|CADPS2_ENST00000313070.7_Silent_p.G731G NM_001167940.1 NP_001161412.1 Q86UW7 CAPS2_HUMAN Ca++-dependent secretion activator 2 734 exocytosis|protein transport cell junction|cytoplasmic vesicle membrane|synapse lipid binding|metal ion binding breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2) 43 CTGAAACAGTCCCAATTCCAT 0.274000 7 50 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179507021 179507021 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:179507021G>A ENST00000589042.1 - 219 40725 c.40501C>T c.(40501-40503)Cgc>Tgc p.R13501C TTN_ENST00000359218.5_Missense_Mutation_p.R4561C|TTN_ENST00000591111.1_Missense_Mutation_p.R11860C|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R10933C|TTN_ENST00000460472.2_Missense_Mutation_p.R4436C|TTN_ENST00000342175.6_Missense_Mutation_p.R4628C|TTN-AS1_ENST00000418062.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000589487.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 11860 Ig-like 91. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.R10933C(1)|p.R4436C(1)|p.R4628C(1) NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) AGTAATTTGCGAACTTTCTTT 0.323000 5 17 0 0 1 0 0 DNPH1 10591 broad.mit.edu 37 6 43194075 43194075 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:43194075C>T ENST00000393987.2 - 2 276 c.255G>A c.(253-255)caG>caA p.Q85Q DNPH1_ENST00000230431.6_Silent_p.Q85Q NM_199184.1 NP_954653.1 2'-deoxynucleoside 5'-phosphate N-hydrolase 1 CGTCCGCCTGCTGCAGCCACT 0.622000 19 69 0 0 1 0 0 CCNB3 85417 broad.mit.edu 37 X 50053736 50053736 + Missense_Mutation SNP T T A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chrX:50053736T>A ENST00000376042.1 + 6 2865 c.2567T>A c.(2566-2568)tTt>tAt p.F856Y CCNB3_ENST00000376038.1_Intron|CCNB3_ENST00000348603.2_Intron|CCNB3_ENST00000276014.7_Missense_Mutation_p.F856Y Q8WWL7 CCNB3_HUMAN cyclin B3 856 cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle nucleus protein kinase binding breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 75 Ovarian(276;0.236) GAAGCTCACTTTAAGGAAACT 0.537000 10 20 0 0 1 0 0 MBD5 55777 broad.mit.edu 37 2 149243470 149243470 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:149243470C>T ENST00000407073.1 + 11 4002 c.3005C>T c.(3004-3006)cCt>cTt p.P1002L MBD5_ENST00000404807.1_Missense_Mutation_p.P1235L NM_018328.4 NP_060798.2 Q9P267 MBD5_HUMAN methyl-CpG binding domain protein 5 1002 chromosome|nucleus chromatin binding|DNA binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3) 62 BRCA - Breast invasive adenocarcinoma(221;0.0569) TCCACAATTCCTTGCCCAGCT 0.443000 48 86 0 0 1 0 0 BLNK 29760 broad.mit.edu 37 10 97964300 97964300 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:97964300G>A ENST00000224337.5 - 12 1031 c.890C>T c.(889-891)cCt>cTt p.P297L BLNK_ENST00000371176.2_Missense_Mutation_p.P274L|BLNK_ENST00000413476.2_Missense_Mutation_p.P297L|BLNK_ENST00000427367.2_Missense_Mutation_p.P297L NM_013314.3 NP_037446.1 Q8WV28 BLNK_HUMAN B-cell linker 297 B cell differentiation|humoral immune response|inflammatory response|intracellular signal transduction cytoplasm|plasma membrane SH3/SH2 adaptor activity|transmembrane receptor protein tyrosine kinase adaptor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(2)|stomach(1) 14 Colorectal(252;0.083) Epithelial(162;7.89e-08)|all cancers(201;2.27e-06) CTGGGCAGGAGGAAACACTGG 0.438000 28 104 0 0 1 0 0 ANO4 121601 broad.mit.edu 37 12 101368665 101368665 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:101368665C>T ENST00000392979.3 + 6 856 c.495C>T c.(493-495)agC>agT p.S165S ANO4_ENST00000299222.9_5'UTR|ANO4_ENST00000538618.1_3'UTR|ANO4_ENST00000392977.3_Silent_p.S200S NM_178826.3 NP_849148.2 Q32M45 ANO4_HUMAN anoctamin 4 200 chloride channel complex chloride channel activity NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1) 78 AGTTCATGAGCAGGTTAGTAG 0.478000 HNSCC(74;0.22) 4 94 0 0 1 0 0 SIN3B 23309 broad.mit.edu 37 19 16980375 16980375 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:16980375C>T ENST00000379803.1 + 14 2021 c.2007C>T c.(2005-2007)atC>atT p.I669I SIN3B_ENST00000595541.1_Silent_p.I227I|SIN3B_ENST00000248054.5_Silent_p.I637I NM_015260.2 NP_056075.1 O75182 SIN3B_HUMAN SIN3 transcription regulator family member B 669 cellular lipid metabolic process|transcription, DNA-dependent nucleoplasm protein binding endometrium(4)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 26 CAGCGCTCATCAGCTACTACG 0.637000 32 56 0 0 1 0 0 MARCH8 220972 broad.mit.edu 37 10 45959713 45959713 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:45959713G>A ENST00000453424.2 - 4 477 c.216C>T c.(214-216)atC>atT p.I72I MARCH8_ENST00000395769.2_Silent_p.I72I|MARCH8_ENST00000319836.3_Silent_p.I72I|MARCH8_ENST00000395771.3_Silent_p.I72I Q5T0T0 MARH8_HUMAN membrane-associated ring finger (C3HC4) 8, E3 ubiquitin protein ligase 72 cytoplasmic vesicle membrane|early endosome membrane|integral to membrane|lysosomal membrane ubiquitin-protein ligase activity|zinc ion binding endometrium(2)|kidney(1)|large_intestine(5)|lung(4) 12 TGGATGGCGTGATAGAAGTGC 0.532000 45 132 0 0 1 0 0 PRKD2 25865 broad.mit.edu 37 19 47201090 47201090 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:47201090G>A ENST00000433867.1 - 9 1616 c.1139C>T c.(1138-1140)cCc>cTc p.P380L PRKD2_ENST00000291281.4_Missense_Mutation_p.P380L|PRKD2_ENST00000601806.1_Missense_Mutation_p.P223L|PRKD2_ENST00000600194.1_Missense_Mutation_p.P223L|PRKD2_ENST00000595515.1_Missense_Mutation_p.P380L NM_001079880.1|NM_001079881.1|NM_016457.4 NP_001073349.1|NP_001073350.1|NP_057541.2 Q9BZL6 KPCD2_HUMAN protein kinase D2 380 cell death|intracellular signal transduction|positive regulation of transcription from RNA polymerase II promoter|protein autophosphorylation|T cell receptor signaling pathway cytoplasm|membrane|nucleus ATP binding|metal ion binding|protein kinase C activity central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1) 41 Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212) OV - Ovarian serous cystadenocarcinoma(262;0.000189)|all cancers(93;0.000545)|Epithelial(262;0.0219)|GBM - Glioblastoma multiforme(486;0.0353) CCTCATTAGGGGGATGTACCC 0.577000 56 121 0 0 1 0 0 CNNM4 26504 broad.mit.edu 37 2 97427503 97427503 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:97427503C>T ENST00000377075.2 + 1 865 c.767C>T c.(766-768)tCc>tTc p.S256F NM_020184.3 NP_064569.3 Q6P4Q7 CNNM4_HUMAN cyclin M4 256 DUF21. biomineral tissue development|ion transport|response to stimulus|visual perception integral to membrane|plasma membrane breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(2) 20 GTCAACACCTCCCTCACAATC 0.587000 37 129 0 0 1 0 0 AADACL3 126767 broad.mit.edu 37 1 12785943 12785943 + Nonsense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:12785943C>T ENST00000332530.3 + 3 1049 c.823C>T c.(823-825)Caa>Taa p.Q275* AADACL3_ENST00000359318.5_Nonsense_Mutation_p.Q345* NM_001103169.1 NP_001096639.1 Q5VUY0 ADCL3_HUMAN arylacetamide deacetylase-like 3 345 hydrolase activity breast(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1) 15 Ovarian(185;0.249) Lung NSC(185;8.27e-05)|all_lung(284;9.47e-05)|Renal(390;0.000147)|Colorectal(325;0.000583)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649) TGCATTAGTTCAATTTGTAAA 0.493000 26 59 0 0 1 0 0 ASTN1 460 broad.mit.edu 37 1 176845760 176845760 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:176845760C>T ENST00000367654.2 - 21 3413 c.3400G>A c.(3400-3402)Gga>Aga p.G1134R ASTN1_ENST00000367657.3_Missense_Mutation_p.G1126R|ASTN1_ENST00000361833.2_Missense_Mutation_p.G1126R|ASTN1_ENST00000424564.2_Missense_Mutation_p.G1126R O14525 ASTN1_HUMAN astrotactin 1 1134 Fibronectin type-III 1. cell migration|neuron cell-cell adhesion integral to membrane NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3) 153 TTGTCCACTCCCCACAGCGTG 0.602000 6 69 0 0 1 0 0 PRDM1 639 broad.mit.edu 37 6 106553106 106553106 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:106553106G>A ENST00000369096.4 + 5 1305 c.1071G>A c.(1069-1071)ggG>ggA p.G357G PRDM1_ENST00000369089.3_Silent_p.G223G|PRDM1_ENST00000369091.2_Silent_p.G321G NM_001198.3 NP_001189.2 O75626 PRDM1_HUMAN PR domain containing 1, with ZNF domain 357 negative regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(59)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(5)|urinary_tract(2) 94 Breast(9;0.022) all_cancers(87;2.2e-31)|all_epithelial(87;2.03e-21)|Acute lymphoblastic leukemia(125;4.99e-11)|all_lung(197;7.55e-09)|all_hematologic(75;5.82e-08)|Lung NSC(302;1.28e-06)|Colorectal(196;0.0112)|Ovarian(999;0.0365) all cancers(137;1.83e-46)|Epithelial(106;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(136;1.99e-20)|GBM - Glioblastoma multiforme(226;3.72e-11)|BRCA - Breast invasive adenocarcinoma(108;1.38e-05) GCAGCCCTGGGAATACGGTGT 0.627000 """D, N, Mis, F, S""" DLBCL 5 125 0 0 1 0 0 ITGB5 3693 broad.mit.edu 37 3 124578286 124578286 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:124578286C>T ENST00000296181.4 - 3 460 c.164G>A c.(163-165)gGa>gAa p.G55E NM_002213.3 NP_002204.2 P18084 ITB5_HUMAN integrin, beta 5 55 PSI. cell-matrix adhesion|integrin-mediated signaling pathway|multicellular organismal development|muscle contraction integrin complex receptor activity breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(3) 30 GBM - Glioblastoma multiforme(114;0.163) CCGTGGGCTTCCGAAGTCCTA 0.557000 26 53 0 0 1 0 0 ANO3 63982 broad.mit.edu 37 11 26463527 26463527 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:26463527C>T ENST00000256737.3 + 2 961 c.109C>T c.(109-111)Ctg>Ttg p.L37L ANO3_ENST00000525139.1_Silent_p.L21L|ANO3_ENST00000537978.1_Silent_p.L21L|ANO3_ENST00000531646.1_Silent_p.L37L NM_031418.2 NP_113606.2 Q9BYT9 ANO3_HUMAN anoctamin 3 37 chloride channel complex chloride channel activity breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 68 TCGGAGATCCCTGCCTTGCCT 0.433000 7 254 0 0 1 0 0 TPRX1 284355 broad.mit.edu 37 19 48306081 48306081 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:48306081G>A ENST00000535759.1 - 4 477 c.478C>T c.(478-480)Ctt>Ttt p.L160F TPRX1_ENST00000543508.1_Missense_Mutation_p.L63F|TPRX1_ENST00000322175.3_Missense_Mutation_p.L63F Q8N7U7 TPRX1_HUMAN tetra-peptide repeat homeobox 1 63 Gly-rich. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(5)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)|skin(1) 18 all_cancers(25;3.02e-09)|all_epithelial(76;7e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133) OV - Ovarian serous cystadenocarcinoma(262;0.000241)|all cancers(93;0.00036)|Epithelial(262;0.0127)|GBM - Glioblastoma multiforme(486;0.048) GCCGCTGGAAGGATTCCCGAG 0.731000 9 20 0 0 1 0 0 NDST2 8509 broad.mit.edu 37 10 75563489 75563489 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:75563489G>A ENST00000299641.4 - 12 2586 c.1616C>T c.(1615-1617)cCt>cTt p.P539L NDST2_ENST00000309979.6_Missense_Mutation_p.P662L NM_003635.3 NP_003626.1 P52849 NDST2_HUMAN N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 2 662 Heparan sulfate N-deacetylase 2. Golgi membrane|integral to membrane [heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1) 30 Prostate(51;0.0112) GGAAGGAACAGGGAAGAAATC 0.493000 12 290 0 0 1 0 0 WBSCR17 64409 broad.mit.edu 37 7 70800683 70800683 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:70800683C>T ENST00000333538.5 + 2 1020 c.386C>T c.(385-387)tCa>tTa p.S129L WBSCR17_ENST00000498380.2_3'UTR NM_022479.1 NP_071924.1 Q6IS24 GLTL3_HUMAN Williams-Beuren syndrome chromosome region 17 129 Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 100 all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125) GAAAAAATTTCACTGGACCGT 0.502000 30 112 0 0 1 0 0 NEK3 4752 broad.mit.edu 37 13 52710373 52710373 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr13:52710373C>T ENST00000452082.2 - 11 2295 c.1065G>A c.(1063-1065)agG>agA p.R355R NEK3_ENST00000339406.3_Silent_p.R351R|NEK3_ENST00000378101.2_Silent_p.R351R|NEK3_ENST00000400357.2_Silent_p.R334R P51956 NEK3_HUMAN NIMA-related kinase 3 351 cell division|mitosis nucleus ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|stomach(2) 18 Breast(56;0.000207)|Lung NSC(96;0.00145)|Prostate(109;0.034)|Hepatocellular(98;0.065)|all_neural(104;0.173) GBM - Glioblastoma multiforme(99;2.81e-08) AACTGGCTTTCCTCAGATGGA 0.398000 42 56 0 0 1 0 0 CSMD1 64478 broad.mit.edu 37 8 3351207 3351207 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:3351207G>A ENST00000602557.1 - 12 1944 c.1389C>T c.(1387-1389)ggC>ggT p.G463G CSMD1_ENST00000602723.1_Silent_p.G463G|CSMD1_ENST00000537824.1_Silent_p.G462G|CSMD1_ENST00000400186.3_Silent_p.G463G|CSMD1_ENST00000539096.1_Silent_p.G462G|CSMD1_ENST00000542608.1_Silent_p.G462G|CSMD1_ENST00000520002.1_Silent_p.G463G Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 463 CUB 3. integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) GGGTGTCATAGCCTCGCTCCA 0.463000 6 18 0 0 1 0 0 KIAA1958 158405 broad.mit.edu 37 9 115337381 115337381 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:115337381G>A ENST00000337530.6 + 2 1317 c.1021G>A c.(1021-1023)Gag>Aag p.E341K KIAA1958_ENST00000536272.1_Missense_Mutation_p.E341K|KIAA1958_ENST00000374244.3_Missense_Mutation_p.E341K NM_133465.2 NP_597722.1 Q8N8K9 K1958_HUMAN KIAA1958 341 endometrium(1)|large_intestine(9)|lung(10)|prostate(2)|skin(3) 25 TGCCTCTGAAGAGTTCCTGTC 0.552000 10 256 0 0 1 0 0 ERGIC3 51614 broad.mit.edu 37 20 34145214 34145214 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr20:34145214C>T ENST00000348547.2 + 13 1168 c.1091C>T c.(1090-1092)tCg>tTg p.S364L ERGIC3_ENST00000357394.4_Missense_Mutation_p.S369L|ERGIC3_ENST00000447986.1_Missense_Mutation_p.S379L|ERGIC3_ENST00000279052.6_Missense_Mutation_p.S369L NM_015966.2 NP_057050.1 Q9Y282 ERGI3_HUMAN ERGIC and golgi 3 364 vesicle-mediated transport endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi apparatus|integral to membrane protein binding breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(4)|ovary(1)|prostate(1) 16 Lung NSC(9;0.00489)|all_lung(11;0.00729) BRCA - Breast invasive adenocarcinoma(18;0.0127) CTCATCGATTCGCTCATCTAC 0.557000 67 126 0 0 1 0 0 MYO5B 4645 broad.mit.edu 37 18 47352981 47352981 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr18:47352981C>T ENST00000285039.7 - 40 5706 c.5407G>A c.(5407-5409)Gag>Aag p.E1803K MYO5B_ENST00000324581.6_Missense_Mutation_p.E918K|SCARNA17_ENST00000589499.1_RNA|MYO5B_ENST00000592688.1_Missense_Mutation_p.E373K|RP11-886H22.1_ENST00000590532.2_Missense_Mutation_p.E126K NM_001080467.2 NP_001073936.1 Q9ULV0 MYO5B_HUMAN myosin VB 1803 Dilute. protein transport myosin complex actin binding|ATP binding|calmodulin binding|motor activity NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4) 87 READ - Rectum adenocarcinoma(32;0.103) TCATTCCGCTCTTGTAGTTGT 0.393000 5 134 0 0 1 0 0 DTL 51514 broad.mit.edu 37 1 212274197 212274197 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:212274197C>T ENST00000366991.4 + 14 2179 c.1865C>T c.(1864-1866)cCg>cTg p.P622L DTL_ENST00000542077.1_Missense_Mutation_p.P580L|DTL_ENST00000475419.1_3'UTR NM_016448.2 NP_057532.2 Q9NZJ0 DTL_HUMAN denticleless E3 ubiquitin protein ligase homolog (Drosophila) 622 DNA replication|G2/M transition DNA damage checkpoint|protein monoubiquitination|protein polyubiquitination|response to UV|translesion synthesis|ubiquitin-dependent protein catabolic process centrosome|Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|nuclear membrane protein binding p.P622L(1) breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 23 OV - Ovarian serous cystadenocarcinoma(81;0.00796)|all cancers(67;0.0385)|Epithelial(68;0.102) TCAGAGCCTCCGTCTCCTATC 0.478000 7 162 0 0 1 0 0 TRBJ2-3 28626 broad.mit.edu 37 7 142494556 142494556 + RNA SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:142494556C>T ENST00000390415.1 + 0 26 TATTTTGGCCCAGGCACCCGG 0.692000 9 11 0 0 1 0 0 CXorf57 55086 broad.mit.edu 37 X 105855579 105855579 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chrX:105855579C>T ENST00000372548.4 + 1 378 c.269C>T c.(268-270)cCt>cTt p.P90L CXorf57_ENST00000372544.2_Missense_Mutation_p.P90L NM_018015.5 NP_060485.4 Q6NSI4 CX057_HUMAN chromosome X open reading frame 57 90 NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 31 GTGCCCAAGCCTCCCCTTTAT 0.547000 55 27 0 0 1 0 0 ATP1A2 477 broad.mit.edu 37 1 160106495 160106495 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:160106495G>A ENST00000361216.3 + 19 2788 c.2699G>A c.(2698-2700)gGa>gAa p.G900E ATP1A2_ENST00000472488.1_3'UTR|ATP1A2_ENST00000392233.3_Missense_Mutation_p.G900E NM_000702.3 NP_000693.1 P50993 AT1A2_HUMAN ATPase, Na+/K+ transporting, alpha 2 polypeptide 900 ATP biosynthetic process ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 69 all_cancers(52;1.11e-16)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246) GACAGCTATGGACAGGAGTGG 0.567000 41 93 0 0 1 0 0 CHI3L2 1117 broad.mit.edu 37 1 111773915 111773915 + Splice_Site SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:111773915G>A ENST00000445067.2 + 6 1099 c.329_splice c.e6+1 p.G110_splice CHI3L2_ENST00000369748.4_Splice_Site_p.G110_splice|CHI3L2_ENST00000369744.2_Splice_Site_p.G100_splice|CHI3L2_ENST00000466741.1_Splice_Site_p.G31_splice|CHI3L2_ENST00000524472.1_Splice_Site_p.G31_splice Q15782 CH3L2_HUMAN chitinase 3-like 2 110 chitin catabolic process extracellular space cation binding|chitinase activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(8)|prostate(1) 19 all_cancers(81;1.89e-05)|all_epithelial(167;7.36e-06)|all_lung(203;0.00018)|Lung NSC(277;0.000359) Lung(183;0.0171)|Colorectal(144;0.0387)|all cancers(265;0.0464)|LUSC - Lung squamous cell carcinoma(189;0.0872)|Epithelial(280;0.0994)|COAD - Colon adenocarcinoma(174;0.141) TGGTTCCAAAGGGTAAGACTA 0.348000 26 50 0 0 1 0 0 DNAI2 64446 broad.mit.edu 37 17 72306248 72306248 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:72306248G>A ENST00000579490.1 + 10 1746 c.1611G>A c.(1609-1611)gaG>gaA p.E537E DNAI2_ENST00000311014.6_Silent_p.E480E|DNAI2_ENST00000446837.2_Silent_p.E480E|DNAI2_ENST00000582036.1_Silent_p.E468E|DNAI2_ENST00000307504.5_Silent_p.E337E Q9GZS0 DNAI2_HUMAN dynein, axonemal, intermediate chain 2 480 cilium assembly axonemal dynein complex|cilium axoneme|cytoplasm|microtubule microtubule motor activity breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(2)|lung(19)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 39 CCCTGCTGGAGGTCTCGCCTG 0.617000 Kartagener syndrome 37 94 0 0 1 0 0 NAV3 89795 broad.mit.edu 37 12 78531116 78531116 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:78531116C>T ENST00000397909.2 + 19 4774 c.4601C>T c.(4600-4602)tCg>tTg p.S1534L NAV3_ENST00000228327.6_Missense_Mutation_p.S1534L|NAV3_ENST00000266692.7_Missense_Mutation_p.S1357L|NAV3_ENST00000536525.2_Missense_Mutation_p.S1534L Q8IVL0 NAV3_HUMAN neuron navigator 3 1534 Ser-rich. nuclear outer membrane ATP binding|nucleoside-triphosphatase activity NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1) 236 ATCAGTCATTCGGGCTCATTC 0.488000 HNSCC(70;0.22) 28 88 0 0 1 0 0 GRID1 2894 broad.mit.edu 37 10 87373381 87373381 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:87373381C>T ENST00000327946.7 - 15 2469 c.2384G>A c.(2383-2385)gGg>gAg p.G795E GRID1_ENST00000536331.1_Missense_Mutation_p.G366E NM_017551.2 NP_060021.1 Q9ULK0 GRID1_HUMAN glutamate receptor, ionotropic, delta 1 795 cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5) 106 L-Glutamic Acid(DB00142) ATCCAGGTCCCCTGTGTCCTG 0.627000 Multiple Myeloma(13;0.14) 54 88 0 0 1 0 0 RNF220 55182 broad.mit.edu 37 1 45088422 45088422 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:45088422C>T ENST00000355387.2 + 4 1217 c.767C>T c.(766-768)tCc>tTc p.S256F RNF220_ENST00000361799.2_Missense_Mutation_p.S256F|RNF220_ENST00000443020.2_Missense_Mutation_p.S17F|RNF220_ENST00000372247.2_Missense_Mutation_p.S256F Q5VTB9 RN220_HUMAN ring finger protein 220 256 protein autoubiquitination cytoplasm ubiquitin-protein ligase activity|zinc ion binding endometrium(6)|kidney(1)|large_intestine(3)|lung(13)|ovary(2)|skin(2)|urinary_tract(2) 29 AGCAAGAATTCCCTTCTGAAG 0.512000 29 76 0 0 1 0 0 NRAP 4892 broad.mit.edu 37 10 115423599 115423599 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:115423599G>A ENST00000369358.4 - 1 287 c.43C>T c.(43-45)Cct>Tct p.P15S NRAP_ENST00000359988.3_Missense_Mutation_p.P15S|NRAP_ENST00000369360.3_Missense_Mutation_p.P15S|NRAP_ENST00000360478.3_Missense_Mutation_p.P15S Q86VF7 NRAP_HUMAN nebulin-related anchoring protein 15 LIM zinc-binding. fascia adherens|muscle tendon junction actin binding|muscle alpha-actinin binding|zinc ion binding autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 95 Colorectal(252;0.0233)|Breast(234;0.188) Epithelial(162;0.00392)|all cancers(201;0.00569) TTCTCGGCAGGATAAACCCCA 0.443000 47 100 0 0 1 0 0 OR13C4 138804 broad.mit.edu 37 9 107289149 107289149 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:107289149G>A ENST00000277216.3 - 1 341 c.342C>T c.(340-342)ctC>ctT p.L114L NM_001001919.1 NP_001001919.1 Q8NGS5 O13C4_HUMAN olfactory receptor, family 13, subfamily C, member 4 114 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|large_intestine(2)|lung(14)|skin(1) 18 TCATGCCAAGGAGGAAACATT 0.438000 61 155 0 0 1 0 0 NDNF 79625 broad.mit.edu 37 4 121957894 121957894 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:121957894C>T ENST00000379692.4 - 4 1758 c.1232G>A c.(1231-1233)gGa>gAa p.G411E NM_024574.3 NP_078850.3 Q8TB73 CD031_HUMAN neuron-derived neurotrophic factor 411 breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(3)|skin(1)|urinary_tract(1) 29 TTTAGGTTTTCCTCTAAGCTG 0.413000 51 194 0 0 1 0 0 HEMK1 51409 broad.mit.edu 37 3 50614976 50614976 + Missense_Mutation SNP A A C TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:50614976A>C ENST00000232854.4 + 6 1138 c.586A>C c.(586-588)Atc>Ctc p.I196L HEMK1_ENST00000434410.1_Missense_Mutation_p.I196L|HEMK1_ENST00000455834.1_Missense_Mutation_p.I196L NM_016173.3 NP_057257.1 Q9Y5R4 HEMK1_HUMAN HemK methyltransferase family member 1 196 DNA methylation DNA binding|N-methyltransferase activity|protein methyltransferase activity lung(3) 3 BRCA - Breast invasive adenocarcinoma(193;0.000283)|KIRC - Kidney renal clear cell carcinoma(197;0.0179)|Kidney(197;0.0212) GGAAGCTGCTATCTCTCTGAC 0.493000 9 95 0 0 1 0 0 NRCAM 4897 broad.mit.edu 37 7 107824959 107824959 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:107824959G>A ENST00000379028.3 - 21 2605 c.2135C>T c.(2134-2136)tCt>tTt p.S712F NRCAM_ENST00000379024.4_Missense_Mutation_p.S693F|NRCAM_ENST00000425651.2_Missense_Mutation_p.S712F|NRCAM_ENST00000351718.4_Missense_Mutation_p.S696F|NRCAM_ENST00000413765.2_Missense_Mutation_p.S693F|NRCAM_ENST00000379022.4_Missense_Mutation_p.S712F Q92823 NRCAM_HUMAN neuronal cell adhesion molecule 712 Fibronectin type-III 1. angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly external side of plasma membrane|integral to plasma membrane ankyrin binding breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4) 65 CACGTAAGGAGACAGCTTCAG 0.517000 28 75 0 0 1 0 0 SPEF2 79925 broad.mit.edu 37 5 35727789 35727789 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:35727789G>A ENST00000440995.2 + 21 2912 c.2912G>A c.(2911-2913)gGa>gAa p.G971E SPEF2_ENST00000356031.3_Missense_Mutation_p.G976E|CTD-2113L7.1_ENST00000510433.1_RNA Q9C093 SPEF2_HUMAN sperm flagellar 2 976 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 37 all_lung(31;7.56e-05) Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) TCTCCTAAAGGAAAATCATCA 0.383000 22 103 0 0 1 0 0 FAM169A 26049 broad.mit.edu 37 5 74130333 74130333 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:74130333G>A ENST00000389156.4 - 5 498 c.408C>T c.(406-408)ttC>ttT p.F136F FAM169A_ENST00000510496.1_Silent_p.F136F|FAM169A_ENST00000380515.3_Intron NM_015566.2 NP_056381.1 Q9Y6X4 F169A_HUMAN family with sequence similarity 169, member A 136 breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1) 27 TATGACACAGGAATGGGATCT 0.393000 14 54 0 0 1 0 0 DDN 23109 broad.mit.edu 37 12 49390841 49390841 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:49390841G>A ENST00000421952.2 - 2 1839 c.1818C>T c.(1816-1818)ccC>ccT p.P606P NM_015086.1 NP_055901.2 O94850 DEND_HUMAN dendrin 606 Interaction with CD2AP and NPHS1 (By similarity). dendritic spine membrane|endoplasmic reticulum membrane|nucleus|perikaryon NS(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1) 8 CCCCGGCGTAGGGCCCTGGGG 0.736000 10 27 0 0 1 0 0 ZFR 51663 broad.mit.edu 37 5 32387754 32387754 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:32387754G>A ENST00000265069.8 - 14 2502 c.2400C>T c.(2398-2400)ctC>ctT p.L800L NM_016107.3 NP_057191.2 Q96KR1 ZFR_HUMAN zinc finger RNA binding protein 800 DZF. multicellular organismal development chromosome|cytoplasm|nucleus DNA binding|RNA binding|zinc ion binding breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|upper_aerodigestive_tract(2) 32 STAD - Stomach adenocarcinoma(35;0.19) TATCTCCTCGGAGAAGTAATC 0.383000 47 102 0 0 1 0 0 RIC3 79608 broad.mit.edu 37 11 8161591 8161591 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:8161591C>T ENST00000343202.4 - 2 339 c.274G>A c.(274-276)Gga>Aga p.G92R RIC3_ENST00000419822.2_Missense_Mutation_p.G92R|RIC3_ENST00000425599.2_Missense_Mutation_p.G92R|RIC3_ENST00000309737.6_Missense_Mutation_p.G92R|RIC3_ENST00000539720.1_Missense_Mutation_p.G43R|RIC3_ENST00000335425.7_Intron NM_001206671.2|NM_024557.4 NP_001193600.1|NP_078833.3 Q7Z5B4 RIC3_HUMAN RIC3 acetylcholine receptor chaperone 92 Poly-Gly. endoplasmic reticulum membrane|Golgi membrane|integral to membrane breast(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1) 17 Epithelial(150;2.89e-07)|BRCA - Breast invasive adenocarcinoma(625;0.204) AGACCTCTTCCACTACCTCCT 0.458000 11 124 0 0 1 0 0 CCDC40 55036 broad.mit.edu 37 17 78063677 78063677 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:78063677G>A ENST00000397545.4 + 17 2853 c.2826G>A c.(2824-2826)agG>agA p.R942R CCDC40_ENST00000374877.3_Silent_p.R942R|CCDC40_ENST00000573903.1_3'UTR NM_017950.3 NP_060420.2 Q4G0X9 CCD40_HUMAN coiled-coil domain containing 40 942 axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility cilium|cytoplasm NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1) 38 all_neural(118;0.167) OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149) AGATCCACAGGATGAAGGTGA 0.622000 18 51 0 0 1 0 0 S1PR3 1903 broad.mit.edu 37 9 91617156 91617156 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:91617156C>T ENST00000375846.3 + 1 5736 c.1041C>T c.(1039-1041)caC>caT p.H347H S1PR3_ENST00000358157.2_Silent_p.H347H Q99500 S1PR3_HUMAN sphingosine-1-phosphate receptor 3 347 anatomical structure morphogenesis|elevation of cytosolic calcium ion concentration|inflammatory response|positive regulation of cell proliferation integral to plasma membrane lipid binding|lysosphingolipid and lysophosphatidic acid receptor activity NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|skin(1) 34 ATAGCAGCCACTCTCCGAAGG 0.587000 24 54 0 0 1 0 0 RIF1 55183 broad.mit.edu 37 2 152321634 152321634 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:152321634G>A ENST00000243326.4 + 29 6083 c.5600G>A c.(5599-5601)gGa>gAa p.G1867E RIF1_ENST00000444746.2_Missense_Mutation_p.G1867E|RIF1_ENST00000428287.2_Missense_Mutation_p.G1867E|RIF1_ENST00000430328.2_Missense_Mutation_p.G1867E|RIF1_ENST00000453091.2_Missense_Mutation_p.G1867E Q5UIP0 RIF1_HUMAN RAP1 interacting factor homolog (yeast) 1867 cell cycle|response to DNA damage stimulus chromosome, telomeric region|cytoplasm|nucleus|spindle binding NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 97 BRCA - Breast invasive adenocarcinoma(221;0.0429) CCGTGTTTAGGAGACTCGAAA 0.368000 9 120 0 0 1 0 0 HERC2P3 283755 broad.mit.edu 37 15 20644302 20644302 + RNA SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr15:20644302C>T ENST00000428453.1 - 0 3261 central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 35 GCCACCACCTCCTCCGCCAGT 0.627000 23 44 0 0 1 0 0 IDO2 169355 broad.mit.edu 37 8 39873083 39873083 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:39873083G>A ENST00000502986.2 + 11 1467 c.1225G>A c.(1225-1227)Gat>Aat p.D409N IDO2_ENST00000343295.4_3'UTR|IDO2_ENST00000389060.4_Missense_Mutation_p.D396N NM_194294.2 NP_919270.2 Q6ZQW0 I23O2_HUMAN indoleamine 2,3-dioxygenase 2 396 tryptophan catabolic process to kynurenine cytosol heme binding|indoleamine 2,3-dioxygenase activity|tryptophan 2,3-dioxygenase activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(2)|upper_aerodigestive_tract(1) 18 GAGTGTCAGGGATAAGACCTT 0.557000 54 112 0 0 1 0 0 POTEG 404785 broad.mit.edu 37 14 19553624 19553624 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr14:19553624C>T ENST00000409832.3 + 1 260 c.208C>T c.(208-210)Ccc>Tcc p.P70S NM_001005356.2 NP_001005356.1 Q6S5H5 POTEG_HUMAN POTE ankyrin domain family, member G 70 cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 47 CCACTGCTTCCCCTGGTGCAG 0.592000 131 381 0 0 1 0 0 MUC3A 4584 broad.mit.edu 37 7 100551763 100551763 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:100551763G>A ENST00000319509.7 + 1 514 c.514G>A c.(514-516)Gcc>Acc p.A172T mucin 3A, cell surface associated breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3) 44 TCCATCAACAGCCTTGAGCAC 0.488000 175 856 0 0 1 0 0 IGKV1-8 28942 broad.mit.edu 37 2 89292091 89292091 + RNA SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:89292091C>T ENST00000495489.1 - 0 234 AGGGGCTTTCCCTGGTTTTTG 0.507000 112 196 0 0 1 0 0 PDE6B 5158 broad.mit.edu 37 4 656342 656342 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:656342C>T ENST00000255622.6 + 14 1810 c.1767C>T c.(1765-1767)gcC>gcT p.A589A PDE6B_ENST00000496514.1_Silent_p.A589A|PDE6B_ENST00000429163.2_Silent_p.A310A NM_000283.3|NM_001145291.1 NP_000274.2|NP_001138763.1 P35913 PDE6B_HUMAN phosphodiesterase 6B, cGMP-specific, rod, beta 589 cytosolic calcium ion homeostasis|GMP metabolic process|phototransduction, visible light|platelet activation|visual perception cytosol|membrane 3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1) 30 AGGCCTTCGCCATGGTGACAG 0.612000 9 111 0 0 1 0 0 PPP1R3A 5506 broad.mit.edu 37 7 113558846 113558846 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:113558846G>A ENST00000284601.3 - 1 274 c.206C>T c.(205-207)tCc>tTc p.S69F NM_002711.3 NP_002702.2 Q16821 PPR3A_HUMAN protein phosphatase 1, regulatory subunit 3A 69 glycogen metabolic process integral to membrane NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2) 121 GAATCCAAAGGAATCAGCAAA 0.418000 39 159 0 0 1 0 0 RUNX1T1 862 broad.mit.edu 37 8 92972728 92972728 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:92972728G>A ENST00000523629.1 - 12 2011 c.1557C>T c.(1555-1557)ggC>ggT p.G519G RUNX1T1_ENST00000520724.1_Silent_p.G482G|RUNX1T1_ENST00000360348.2_Silent_p.G482G|RUNX1T1_ENST00000396218.1_Silent_p.G492G|RUNX1T1_ENST00000265814.3_Silent_p.G519G|RUNX1T1_ENST00000518844.1_Silent_p.G492G|RUNX1T1_ENST00000422361.2_Silent_p.G482G|RUNX1T1_ENST00000436581.2_Silent_p.G530G NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2 NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1 Q06455 MTG8_HUMAN runt-related transcription factor 1; translocated to, 1 (cyclin D-related) 519 generation of precursor metabolites and energy nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2) 86 BRCA - Breast invasive adenocarcinoma(11;0.0141) TCGCTTTACGGCCACAATTCC 0.458000 29 66 0 0 1 0 0 DUSP13 51207 broad.mit.edu 37 10 76854505 76854505 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:76854505G>A ENST00000491677.2 - 8 1455 c.913C>T c.(913-915)Cct>Tct p.P305S DUSP13_ENST00000605915.1_Missense_Mutation_p.P198S|DUSP13_ENST00000478873.2_Missense_Mutation_p.P312S|DUSP13_ENST00000372702.3_3'UTR|DUSP13_ENST00000607131.1_Missense_Mutation_p.P269S|DUSP13_ENST00000464872.1_Missense_Mutation_p.P125S|DUSP13_ENST00000372700.3_Missense_Mutation_p.P226S|DUSP13_ENST00000472493.2_Missense_Mutation_p.P176S NM_001007271.1 NP_001007272.1 Q6B8I1 MDSP_HUMAN dual specificity phosphatase 13 167 cytoplasm protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1) 8 all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348) CCTGAGTTAGGGCAGATATTG 0.617000 23 50 0 0 1 0 0 TGM4 7047 broad.mit.edu 37 3 44938233 44938233 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:44938233C>T ENST00000296125.4 + 6 650 c.582C>T c.(580-582)tcC>tcT p.S194S NM_003241.3 NP_003232.2 P49221 TGM4_HUMAN transglutaminase 4 194 peptide cross-linking|protein polyamination acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity NS(1)|breast(1)|endometrium(2)|large_intestine(9)|lung(21)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1) 38 BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686) L-Glutamine(DB00130) GCTGCATTTCCCTGCTGACTG 0.493000 5 148 0 0 1 0 0 MPP7 143098 broad.mit.edu 37 10 28409268 28409268 + Missense_Mutation SNP G G A rs34411482 TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:28409268G>A ENST00000337532.5 - 11 1018 c.742C>T c.(742-744)Cca>Tca p.P248S MPP7_ENST00000375719.3_Missense_Mutation_p.P248S|MPP7_ENST00000540098.1_Missense_Mutation_p.P248S|MPP7_ENST00000445954.2_Missense_Mutation_p.P123S|MPP7_ENST00000375732.1_Missense_Mutation_p.P248S NM_173496.3 NP_775767.2 Q5T2T1 MPP7_HUMAN membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7) 248 SH3. establishment of cell polarity|positive regulation of protein complex assembly|protein localization to adherens junction|tight junction assembly MPP7-DLG1-LIN7 complex|tight junction protein complex scaffold|protein domain specific binding|protein heterodimerization activity|signaling adaptor activity autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1) 22 TCCTTACATGGAATTGCCTTA 0.363000 38 125 0 0 1 0 0 GRIK2 2898 broad.mit.edu 37 6 102134149 102134149 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:102134149C>T ENST00000369138.1 + 6 1362 c.872C>T c.(871-873)tCc>tTc p.S291F GRIK2_ENST00000318991.6_Missense_Mutation_p.S291F|GRIK2_ENST00000369134.4_Missense_Mutation_p.S242F|GRIK2_ENST00000421544.1_Missense_Mutation_p.S291F|GRIK2_ENST00000369137.3_Missense_Mutation_p.S291F|GRIK2_ENST00000413795.1_Missense_Mutation_p.S291F|GRIK2_ENST00000358361.3_Missense_Mutation_p.S291F NM_001166247.1 NP_001159719.1 Q13002 GRIK2_HUMAN glutamate receptor, ionotropic, kainate 2 291 glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity cell junction|postsynaptic membrane extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 83 all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14) all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206) L-Glutamic Acid(DB00142) CAAGTCTCCTCCATCATTGAA 0.433000 30 54 0 0 1 0 0 AP3B2 8120 broad.mit.edu 37 15 83350228 83350228 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr15:83350228C>T ENST00000261722.3 - 5 672 c.465G>A c.(463-465)tcG>tcA p.S155S AP3B2_ENST00000535348.1_Silent_p.S123S|RP11-752G15.3_ENST00000560650.1_RNA|AP3B2_ENST00000535359.1_Silent_p.S155S NM_004644.3 NP_004635.2 Q13367 AP3B2_HUMAN adaptor-related protein complex 3, beta 2 subunit 155 endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport clathrin coated vesicle membrane|COPI-coated vesicle|membrane coat binding|protein transporter activity breast(4)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(2) 41 BRCA - Breast invasive adenocarcinoma(143;0.229) GTGACATGTCCGAGGCGGCTT 0.587000 11 52 0 0 1 0 0 DSCAM 1826 broad.mit.edu 37 21 41561106 41561106 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr21:41561106C>T ENST00000400454.1 - 12 2893 c.2416G>A c.(2416-2418)Gag>Aag p.E806K NM_001389.3 NP_001380.2 O60469 DSCAM_HUMAN Down syndrome cell adhesion molecule 806 Ig-like C2-type 9. cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction protein binding p.E806K(1) NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4) 142 all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103) CAGCTCATCTCCTTTTTCTGC 0.507000 36 87 0 0 1 0 0 TRIM29 23650 broad.mit.edu 37 11 120008220 120008220 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:120008220C>T ENST00000341846.5 - 1 941 c.520G>A c.(520-522)Gac>Aac p.D174N NM_012101.3 NP_036233.2 Q14134 TRI29_HUMAN tripartite motif containing 29 174 transcription from RNA polymerase II promoter cytoplasm protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1) 30 Breast(109;0.00117)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;5.37e-06) ATGCAGGAGTCGCACAGCACC 0.667000 40 27 0 0 1 0 0 TANC2 26115 broad.mit.edu 37 17 61428764 61428764 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:61428764G>A ENST00000424789.2 + 11 1743 c.1739G>A c.(1738-1740)aGg>aAg p.R580K TANC2_ENST00000389520.4_Missense_Mutation_p.R580K NM_025185.3 NP_079461.2 Q9HCD6 TANC2_HUMAN tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2 580 binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3) 44 GTAACAGTTAGGACCAGTTTA 0.358000 19 39 0 0 1 0 0 RGS22 26166 broad.mit.edu 37 8 101059694 101059694 + Missense_Mutation SNP T T A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:101059694T>A ENST00000360863.6 - 11 2014 c.1820A>T c.(1819-1821)aAa>aTa p.K607I RGS22_ENST00000523437.1_Missense_Mutation_p.K595I|RGS22_ENST00000523287.1_Missense_Mutation_p.K426I NM_015668.3 NP_056483.3 Q8NE09 RGS22_HUMAN regulator of G-protein signaling 22 607 negative regulation of signal transduction cytoplasm|plasma membrane GTPase activator activity|signal transducer activity RGS22/SYCP1(2) breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 68 Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169) CACCTACCCTTTCTCAATCAC 0.348000 4 99 0 0 1 0 0 PRLR 5618 broad.mit.edu 37 5 35065609 35065609 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:35065609G>A ENST00000382002.5 - 10 1877 c.1451C>T c.(1450-1452)tCt>tTt p.S484F PRLR_ENST00000542609.1_Intron|PRLR_ENST00000310101.5_Intron|PRLR_ENST00000348262.3_Intron|PRLR_ENST00000511486.1_Missense_Mutation_p.S383F|PRLR_ENST00000513753.1_Intron|PRLR_ENST00000231423.3_Intron|PRLR_ENST00000342362.5_Missense_Mutation_p.S383F|PRLR_ENST00000397391.3_Intron NM_000949.5 NP_000940.1 P16471 PRLR_HUMAN prolactin receptor 484 activation of JAK2 kinase activity|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|embryo implantation|lactation|steroid biosynthetic process|T cell activation cell surface|extracellular region|integral to membrane metal ion binding|ornithine decarboxylase activator activity|peptide hormone binding|prolactin receptor activity|protein homodimerization activity central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 48 all_lung(31;3.83e-05) COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229) Dromostanolone(DB00858)|Fluoxymesterone(DB01185)|Pegvisomant(DB00082)|Somatropin recombinant(DB00052) GTCAGTCTCAGAATGGAAGCT 0.478000 8 191 0 0 1 0 0 OR1I1 126370 broad.mit.edu 37 19 15198504 15198504 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:15198504C>T ENST00000209540.2 + 1 714 c.628C>T c.(628-630)Cca>Tca p.P210S NM_001004713.1 NP_001004713.1 O60431 OR1I1_HUMAN olfactory receptor, family 1, subfamily I, member 1 210 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(3)|ovary(2)|stomach(2) 20 GGGCACCAGCCCATTCTCCTG 0.537000 36 79 0 0 1 0 0 TBC1D15 64786 broad.mit.edu 37 12 72266771 72266771 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:72266771C>T ENST00000550746.1 + 3 256 c.192C>T c.(190-192)ctC>ctT p.L64L TBC1D15_ENST00000319106.8_Silent_p.L72L|TBC1D15_ENST00000393309.3_5'UTR|TBC1D15_ENST00000485960.2_Silent_p.L64L NM_001146213.1|NM_022771.4 NP_001139685.2|NP_073608.4 Q8TC07 TBC15_HUMAN TBC1 domain family, member 15 64 protein binding|Rab GTPase activator activity NS(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 CTAGTATTCTCTATGCTAGAA 0.303000 8 156 0 0 1 0 0 DIRC2 84925 broad.mit.edu 37 3 122591357 122591357 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:122591357C>T ENST00000261038.5 + 8 1632 c.1234C>T c.(1234-1236)Cca>Tca p.P412S NM_032839.2 NP_116228.1 Q96SL1 DIRC2_HUMAN disrupted in renal carcinoma 2 412 transport integral to membrane endometrium(2)|large_intestine(1)|lung(14)|prostate(1) 18 GBM - Glioblastoma multiforme(114;0.0614) CTACCCAGTTCCAGAAGGAAT 0.348000 68 146 0 0 1 0 0 PLCG1 5335 broad.mit.edu 37 20 39792759 39792759 + Missense_Mutation SNP T T A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr20:39792759T>A ENST00000373272.2 + 12 1540 c.1135T>A c.(1135-1137)Tac>Aac p.Y379N PLCG1_ENST00000244007.3_Missense_Mutation_p.Y379N|PLCG1_ENST00000373271.1_Missense_Mutation_p.Y379N NM_002660.2 NP_002651.2 P19174 PLCG1_HUMAN phospholipase C, gamma 1 379 PI-PLC X-box. activation of phospholipase C activity|axon guidance|blood coagulation|cellular response to epidermal growth factor stimulus|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular signal transduction|leukocyte migration|nerve growth factor receptor signaling pathway|phospholipid catabolic process|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of epithelial cell migration|T cell receptor signaling pathway cytosol|lamellipodium|plasma membrane|ruffle calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|receptor signaling protein activity breast(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(16)|skin(6)|urinary_tract(2) 46 Myeloproliferative disorder(115;0.00878) GCCAGTTATTTACCATGGGCA 0.587000 5 141 0 0 1 0 0 ATP7B 540 broad.mit.edu 37 13 52511700 52511700 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr13:52511700G>A ENST00000242839.4 - 18 3971 c.3815C>T c.(3814-3816)tCc>tTc p.S1272F ATP7B_ENST00000417240.2_Missense_Mutation_p.S483F|ATP7B_ENST00000448424.2_Missense_Mutation_p.S1194F|ATP7B_ENST00000344297.5_Missense_Mutation_p.S1065F|ATP7B_ENST00000400366.3_Missense_Mutation_p.S1161F|ATP7B_ENST00000418097.2_Missense_Mutation_p.S1207F|ATP7B_ENST00000400370.3_Missense_Mutation_p.S842F NM_000053.3 NP_000044.2 P35670 ATP7B_HUMAN ATPase, Cu++ transporting, beta polypeptide 1272 ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion Golgi membrane|integral to plasma membrane|late endosome|mitochondrion ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2) 55 Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19) GBM - Glioblastoma multiforme(99;5.25e-08) CAAGGCCGGGGAGTCATTGAC 0.612000 Wilson disease 35 119 0 0 1 0 0 XIRP2 129446 broad.mit.edu 37 2 168100471 168100471 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:168100471C>T ENST00000409195.1 + 9 2658 c.2569C>T c.(2569-2571)Cct>Tct p.P857S XIRP2_ENST00000295237.9_Missense_Mutation_p.P857S|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.P635S NM_152381.5 NP_689594.4 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 682 actin cytoskeleton organization cell junction actin binding NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7) 315 AAAAGAAGTTCCTGATGCAGA 0.363000 57 118 0 0 1 0 0 GUCY2C 2984 broad.mit.edu 37 12 14836114 14836114 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:14836114G>A ENST00000261170.3 - 4 609 c.473C>T c.(472-474)aCc>aTc p.T158I RP11-174G6.1_ENST00000501178.2_RNA NM_004963.3 NP_004954.2 P25092 GUC2C_HUMAN guanylate cyclase 2C (heat stable enterotoxin receptor) 158 intracellular signal transduction|receptor guanylyl cyclase signaling pathway integral to membrane ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1) 51 CATCAGCCTGGTTAAGGTTTC 0.413000 4 83 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179468825 179468825 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:179468825G>A ENST00000589042.1 - 282 54813 c.54589C>T c.(54589-54591)Cca>Tca p.P18197S TTN_ENST00000359218.5_Missense_Mutation_p.P9257S|TTN_ENST00000591111.1_Missense_Mutation_p.P16556S|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P15629S|TTN_ENST00000460472.2_Missense_Mutation_p.P9132S|TTN_ENST00000342175.6_Missense_Mutation_p.P9324S|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000419746.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 16556 Ig-like 105. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) CCAGTAATTGGAGAGCCACCA 0.493000 86 183 0 0 1 0 0 STRA13 201254 broad.mit.edu 37 17 79980702 79980702 + Splice_Site SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:79980702C>T ENST00000392359.3 - 1 92 c.36_splice c.e1+1 p.K12_splice STRA13_ENST00000584347.1_Splice_Site_p.K12_splice|STRA13_ENST00000583767.1_5'UTR|STRA13_ENST00000306704.6_Splice_Site_p.K12_splice|STRA13_ENST00000580435.1_Splice_Site_p.K12_splice NM_001271006.1 NP_001257935.1 A8MT69 CENPX_HUMAN stimulated by retinoic acid 13 12 DNA repair chromosome, centromeric region|Fanconi anaemia nuclear complex DNA binding|protein binding all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246) BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191) CGGCCCTCACCTTCCGGAAGC 0.741000 7 24 0 0 1 0 0 ELK3 2004 broad.mit.edu 37 12 96617374 96617374 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:96617374C>T ENST00000228741.3 + 2 356 c.30C>T c.(28-30)ttC>ttT p.F10F RP11-394J1.2_ENST00000551844.1_RNA|ELK3_ENST00000552142.1_Silent_p.F10F NM_005230.2 NP_005221.2 P41970 ELK3_HUMAN ELK3, ETS-domain protein (SRF accessory protein 2) 10 negative regulation of transcription, DNA-dependent|signal transduction mitochondrion protein binding|purine-rich negative regulatory element binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(5)|ovary(2)|prostate(1)|stomach(2) 20 all_cancers(2;0.00173) TGTGGCAGTTCCTGTTGCAGT 0.547000 53 68 0 0 1 0 0 OR10T2 128360 broad.mit.edu 37 1 158369054 158369054 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:158369054G>A ENST00000334438.1 - 1 202 c.203C>T c.(202-204)tCa>tTa p.S68L NM_001004475.1 NP_001004475.1 Q8NGX3 O10T2_HUMAN olfactory receptor, family 10, subfamily T, member 2 68 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 all_hematologic(112;0.0378) CTCAGAAAATGAAAGGATGAA 0.502000 39 41 0 0 1 0 0 MYH1 4619 broad.mit.edu 37 17 10415489 10415489 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:10415489G>A ENST00000226207.5 - 13 1262 c.1168C>T c.(1168-1170)Ctc>Ttc p.L390F CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA NM_005963.3 NP_005954.3 P12882 MYH1_HUMAN myosin, heavy chain 1, skeletal muscle, adult 390 Myosin head-like. muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5) 176 AGATTTTGGAGATAGGCTGCC 0.453000 16 219 0 0 1 0 0 TARBP1 6894 broad.mit.edu 37 1 234565919 234565919 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:234565919G>A ENST00000040877.1 - 15 2522 c.2523C>T c.(2521-2523)ttC>ttT p.F841F NM_005646.3 NP_005637.3 Q13395 TARB1_HUMAN TAR (HIV-1) RNA binding protein 1 841 regulation of transcription from RNA polymerase II promoter|RNA processing nucleus RNA binding|RNA methyltransferase activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(7)|large_intestine(6)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4) 55 Ovarian(103;0.0339) all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172) OV - Ovarian serous cystadenocarcinoma(106;0.000263) GAGAGGAAAGGAAGCTTTCCA 0.577000 87 280 0 0 1 0 0 TOPORS 10210 broad.mit.edu 37 9 32550901 32550901 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:32550901G>A ENST00000360538.2 - 2 185 c.69C>T c.(67-69)ccC>ccT p.P23P TOPORS_ENST00000379858.1_Intron NM_005802.4 NP_005793.2 Q9NS56 TOPRS_HUMAN topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase 23 E3 ubiquitin-protein ligase activity. DNA damage response, signal transduction resulting in induction of apoptosis|maintenance of protein location in nucleus|proteasomal ubiquitin-dependent protein catabolic process|protein sumoylation|transcription, DNA-dependent nuclear speck|PML body antigen binding|DNA binding|DNA topoisomerase I binding|SUMO ligase activity|ubiquitin-protein ligase activity|zinc ion binding large_intestine(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(1) 12 LUSC - Lung squamous cell carcinoma(29;0.0181) GBM - Glioblastoma multiforme(74;0.0018) CCTCCGAAGCGGGAGCAGGCG 0.706000 23 21 0 0 1 0 0 PLCB2 5330 broad.mit.edu 37 15 40590870 40590870 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr15:40590870C>T ENST00000260402.3 - 10 1139 c.890G>A c.(889-891)gGg>gAg p.G297E PLCB2_ENST00000557821.1_Missense_Mutation_p.G297E|PLCB2_ENST00000456256.2_Missense_Mutation_p.G297E NM_004573.2 NP_004564.2 Q00722 PLCB2_HUMAN phospholipase C, beta 2 297 activation of phospholipase C activity|intracellular signal transduction|lipid catabolic process|phospholipid metabolic process|synaptic transmission cytosol calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(3) 39 all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117) GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508) GTTCTCTGGCCCACAGAGAAA 0.582000 12 31 0 0 1 0 0 PDE6B 5158 broad.mit.edu 37 4 657999 657999 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:657999G>A ENST00000255622.6 + 17 2161 c.2118G>A c.(2116-2118)aaG>aaA p.K706K PDE6B_ENST00000496514.1_Silent_p.K706K|PDE6B_ENST00000429163.2_Silent_p.K427K NM_000283.3|NM_001145291.1 NP_000274.2|NP_001138763.1 P35913 PDE6B_HUMAN phosphodiesterase 6B, cGMP-specific, rod, beta 706 cytosolic calcium ion homeostasis|GMP metabolic process|phototransduction, visible light|platelet activation|visual perception cytosol|membrane 3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1) 30 CGACCCGGAAGGAGATCGTCA 0.617000 22 57 0 0 1 0 0 MAST2 23139 broad.mit.edu 37 1 46476446 46476446 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:46476446C>T ENST00000361297.2 + 10 1306 c.1023C>T c.(1021-1023)tcC>tcT p.S341S MAST2_ENST00000372008.1_Silent_p.S226S|MAST2_ENST00000372009.2_Intron NM_015112.2 NP_055927.2 Q6P0Q8 MAST2_HUMAN microtubule associated serine/threonine kinase 2 341 regulation of interleukin-12 biosynthetic process|spermatid differentiation cytoplasm|cytoskeleton|plasma membrane ATP binding|magnesium ion binding|phosphatase binding|protein serine/threonine kinase activity breast(1)|lung(3)|ovary(5)|stomach(2) 11 Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184) TTATTTCCTCCAACACTCCAG 0.507000 27 44 0 0 1 0 0 NDST4 64579 broad.mit.edu 37 4 115760572 115760572 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:115760572G>A ENST00000264363.2 - 11 2926 c.2248C>T c.(2248-2250)Cac>Tac p.H750Y NM_022569.1 NP_072091.1 Q9H3R1 NDST4_HUMAN N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4 750 Heparan sulfate N-sulfotransferase 4. Golgi membrane|integral to membrane [heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity p.H750N(1) NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1) 81 Ovarian(17;0.156) OV - Ovarian serous cystadenocarcinoma(123;0.000562) CTTTCTATGTGGACTGCATAC 0.343000 58 84 0 0 1 0 0 TSPAN2 10100 broad.mit.edu 37 1 115615584 115615584 + Silent SNP G G A rs150329225 TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:115615584G>A ENST00000369516.2 - 2 145 c.114C>T c.(112-114)ttC>ttT p.F38F TSPAN2_ENST00000369515.2_Silent_p.F38F|TSPAN2_ENST00000369514.2_Silent_p.F38F NM_005725.4 NP_005716.2 O60636 TSN2_HUMAN tetraspanin 2 38 integral to membrane central_nervous_system(1)|large_intestine(4)|lung(3)|pancreas(1)|prostate(1) 10 Lung SC(450;0.211) all_cancers(81;2.9e-07)|all_epithelial(167;1.42e-06)|all_lung(203;6.72e-06)|Lung NSC(69;1.13e-05)|Acute lymphoblastic leukemia(138;0.191) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179) TGGCACCTCCGAACCGAAACC 0.502000 20 39 0 0 1 0 0 LDHAL6B 92483 broad.mit.edu 37 15 59499935 59499935 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr15:59499935G>A ENST00000307144.4 + 1 894 c.796G>A c.(796-798)Gat>Aat p.D266N MYO1E_ENST00000288235.4_Intron NM_033195.2 NP_149972.1 Q9BYZ2 LDH6B_HUMAN lactate dehydrogenase A-like 6B 266 glycolysis cytoplasm L-lactate dehydrogenase activity|protein binding endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|stomach(1) 10 NADH(DB00157) TCTGAACTCTGATATAGGAAC 0.428000 24 63 0 0 1 0 0 TBX21 30009 broad.mit.edu 37 17 45822673 45822673 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:45822673G>A ENST00000177694.1 + 6 1760 c.1549G>A c.(1549-1551)Gcc>Acc p.A517T NM_013351.1 NP_037483.1 Q9UL17 TBX21_HUMAN T-box 21 517 lymphocyte migration|multicellular organismal development|positive regulation of transcription, DNA-dependent|response to virus nucleus sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding NS(1)|endometrium(1)|large_intestine(3)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 22 CCCTGCTGGGGCCCCTTCTCC 0.512000 30 62 0 0 1 0 0 ADAMTSL3 57188 broad.mit.edu 37 15 84558987 84558987 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr15:84558987C>T ENST00000286744.5 + 11 1423 c.1199C>T c.(1198-1200)cCc>cTc p.P400L ADAMTSL3_ENST00000567476.1_Missense_Mutation_p.P400L NM_207517.2 NP_997400.2 P82987 ATL3_HUMAN ADAMTS-like 3 400 proteinaceous extracellular matrix metallopeptidase activity|zinc ion binding NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4) 130 BRCA - Breast invasive adenocarcinoma(143;0.211) AGCATGGATCCCTGCCCATCA 0.413000 31 62 0 0 1 0 0 CORT 1325 broad.mit.edu 37 1 10510377 10510377 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:10510377G>A ENST00000377049.3 + 1 602 c.97G>A c.(97-99)Gag>Aag p.E33K APITD1-CORT_ENST00000465026.1_Intron|CORT_ENST00000320498.4_Missense_Mutation_p.E83K|APITD1-CORT_ENST00000470413.2_Intron|APITD1_ENST00000602787.1_Intron|APITD1-CORT_ENST00000400900.2_Intron|APITD1_ENST00000602296.1_Intron NM_001302.4 NP_001293.3 cortistatin breast(1)|endometrium(1)|stomach(1) 3 Ovarian(185;0.203) all_lung(284;1.31e-05)|Lung NSC(185;2.19e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.12e-07)|COAD - Colon adenocarcinoma(227;7.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(132;0.0165)|READ - Rectum adenocarcinoma(331;0.0487) CCGAGACAGCGAGGTGAGTAC 0.652000 15 31 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9024869 9024869 + Silent SNP C C T rs62118271 TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:9024869C>T ENST00000397910.4 - 16 37196 c.36993G>A c.(36991-36993)gaG>gaA p.E12331E NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 12333 SEA 2. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 AGGGGCCCAGCTCTTCAATGT 0.542000 84 175 0 0 1 0 0 SLAMF9 89886 broad.mit.edu 37 1 159922197 159922197 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:159922197C>T ENST00000368093.3 - 3 635 c.519G>A c.(517-519)ggG>ggA p.G173G SLAMF9_ENST00000368092.3_Intron|SLAMF9_ENST00000466773.1_5'UTR NM_033438.3 NP_254273.2 Q96A28 SLAF9_HUMAN SLAM family member 9 173 Ig-like C2-type. integral to membrane breast(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1) 13 all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) AAGTGCTATCCCCCCGGGAGA 0.572000 43 206 0 0 1 0 0 DHX33 56919 broad.mit.edu 37 17 5364278 5364278 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:5364278G>A ENST00000225296.3 - 4 1030 c.830C>T c.(829-831)tCc>tTc p.S277F DHX33_ENST00000433302.3_Intron NM_001199699.1|NM_020162.3 NP_001186628.1|NP_064547.2 Q9H6R0 DHX33_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 33 277 Helicase C-terminal. nucleolus ATP binding|ATP-dependent helicase activity|nucleic acid binding breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 CTGGAAGACGGAGACAAGCGC 0.507000 50 110 0 0 1 0 0 ZNF827 152485 broad.mit.edu 37 4 146807170 146807170 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:146807170G>A ENST00000508784.1 - 4 1634 c.1407C>T c.(1405-1407)atC>atT p.I469I ZNF827_ENST00000379448.4_Silent_p.I469I|ZNF827_ENST00000513320.1_Silent_p.I119I Q17R98 ZN827_HUMAN zinc finger protein 827 469 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 48 all_hematologic(180;0.151) CTGGGTCTGGGATCTCCTCCT 0.567000 6 62 0 0 1 0 0 OR11L1 391189 broad.mit.edu 37 1 248004713 248004713 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:248004713C>T ENST00000355784.2 - 1 541 c.486G>A c.(484-486)atG>atA p.M162I NM_001001959.1 NP_001001959.1 Q8NGX0 O11L1_HUMAN olfactory receptor, family 11, subfamily L, member 1 162 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.M162I(1) NS(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 57 all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858) OV - Ovarian serous cystadenocarcinoma(106;0.0319) ACCTGGAAATCATCAGGGAAG 0.557000 44 186 0 0 1 0 0 IMPG1 3617 broad.mit.edu 37 6 76640689 76640689 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:76640689C>T ENST00000369950.3 - 15 2413 c.2224G>A c.(2224-2226)Gga>Aga p.G742R IMPG1_ENST00000369963.3_3'UTR NM_001563.2 NP_001554.2 Q17R60 IMPG1_HUMAN interphotoreceptor matrix proteoglycan 1 742 visual perception proteinaceous extracellular matrix extracellular matrix structural constituent|receptor activity breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222) GCTCCCTTTCCCTGGAGGACC 0.527000 29 93 0 0 1 0 0 B3GNT2 10678 broad.mit.edu 37 2 62449741 62449741 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:62449741C>T ENST00000301998.4 + 2 638 c.386C>T c.(385-387)tCa>tTa p.S129L B3GNT2_ENST00000405767.1_Missense_Mutation_p.S129L NM_006577.5 NP_006568.2 Q9NY97 B3GN2_HUMAN UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 2 129 Golgi membrane|integral to membrane UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1) 18 Lung NSC(7;0.031)|all_lung(7;0.0634) LUSC - Lung squamous cell carcinoma(7;3.55e-06)|Epithelial(17;0.0963) CGCAATTATTCACTGCTTATA 0.468000 22 289 0 0 1 0 0 NGF 4803 broad.mit.edu 37 1 115828781 115828781 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:115828781G>A ENST00000369512.2 - 3 804 c.636C>T c.(634-636)acC>acT p.T212T RP4-663N10.1_ENST00000425449.1_RNA NM_002506.2 NP_002497.2 P01138 NGF_HUMAN nerve growth factor (beta polypeptide) 212 activation of MAPKK activity|activation of phospholipase C activity|anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|negative regulation of cell cycle|nerve growth factor processing|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|Ras protein signal transduction endosome|Golgi lumen growth factor activity|nerve growth factor receptor binding breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 13 Lung SC(450;0.211) all_cancers(81;1.07e-06)|all_epithelial(167;4.43e-06)|all_lung(203;2.86e-05)|Lung NSC(69;4.99e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179) Clenbuterol(DB01407) TGCCATCCATGGTCAGCGCCT 0.577000 23 88 0 0 1 0 0 CSMD2 114784 broad.mit.edu 37 1 34312569 34312569 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:34312569C>T ENST00000373381.4 - 6 1125 c.949G>A c.(949-951)Gtt>Att p.V317I NM_052896.3 NP_443128.2 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 277 integral to membrane|plasma membrane protein binding p.V277I(1) NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1) 246 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) CTGCTGATAACGGGGGCTGGG 0.587000 16 49 0 0 1 0 0 NACA 4666 broad.mit.edu 37 12 57111454 57111454 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:57111454G>A ENST00000454682.1 - 3 4141 c.3860C>T c.(3859-3861)cCc>cTc p.P1287L NACA_ENST00000546392.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000550952.1_Intron NM_001113203.2 NP_001106674.2 Q13765 NACA_HUMAN nascent polypeptide-associated complex alpha subunit 0 interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation nascent polypeptide-associated complex|nucleus DNA binding breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1) 10 TGCGGGATTGGGGGCCCCTTT 0.657000 T BCL6 NHL 53 85 0 0 1 0 0 PRAMEF1 65121 broad.mit.edu 37 1 12853499 12853499 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:12853499G>A ENST00000332296.7 + 2 226 c.123G>A c.(121-123)atG>atA p.M41I NM_023013.2 NP_075389.1 O95521 PRAM1_HUMAN PRAME family member 1 41 cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 35 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) CACTCTTCATGGAGGCCTTCA 0.587000 91 177 0 0 1 0 0 SP140L 93349 broad.mit.edu 37 2 231267518 231267518 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:231267518G>A ENST00000415673.2 + 19 1736 c.1650G>A c.(1648-1650)aaG>aaA p.K550K SP140L_ENST00000243810.6_3'UTR|SP140L_ENST00000396563.4_3'UTR NM_138402.4 NP_612411.4 Q9H930 LY10L_HUMAN SP140 nuclear body protein-like 292 nucleus DNA binding|metal ion binding central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|skin(1) 20 TCCAGTATAAGGATTTTGGCC 0.358000 7 78 0 0 1 0 0 MRPL33 9553 broad.mit.edu 37 2 27997355 27997355 + Nonsense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:27997355C>T ENST00000296102.3 + 3 167 c.106C>T c.(106-108)Cga>Tga p.R36* MRPL33_ENST00000483992.1_Intron|MRPL33_ENST00000379666.3_Intron NM_004891.3 NP_004882.1 O75394 RM33_HUMAN mitochondrial ribosomal protein L33 36 translation mitochondrion|ribosome structural constituent of ribosome breast(1)|large_intestine(1) 2 Acute lymphoblastic leukemia(172;0.155) CAAGAGAAACCGACTGCGGGA 0.458000 62 119 0 0 1 0 0 FAM73A 374986 broad.mit.edu 37 1 78267074 78267074 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:78267074C>T ENST00000370791.3 + 3 286 c.254C>T c.(253-255)tCt>tTt p.S85F FAM73A_ENST00000443751.2_Missense_Mutation_p.S47F NM_001270384.1|NM_198549.3 NP_001257313.1|NP_940951.1 Q8NAN2 FA73A_HUMAN family with sequence similarity 73, member A 85 integral to membrane breast(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|urinary_tract(1) 19 Colorectal(170;0.226) AGTGCTATATCTGTAATTTTT 0.328000 23 72 0 0 1 0 0 SH3RF1 57630 broad.mit.edu 37 4 170028062 170028062 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:170028062G>A ENST00000284637.9 - 11 2775 c.2434C>T c.(2434-2436)Cct>Tct p.P812S NM_020870.3 NP_065921.2 Q7Z6J0 SH3R1_HUMAN SH3 domain containing ring finger 1 812 Golgi apparatus|lamellipodium|perinuclear region of cytoplasm ligase activity|zinc ion binding NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 31 Prostate(90;0.00267)|Renal(120;0.0183) GBM - Glioblastoma multiforme(119;0.0287) GCCTGGCGAGGAGGTGGAGCG 0.542000 50 72 0 0 1 0 0 SPATA13 221178 broad.mit.edu 37 13 24864807 24864807 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr13:24864807C>T ENST00000424834.2 + 11 3338 c.2865C>T c.(2863-2865)atC>atT p.I955I SPATA13_ENST00000382108.3_Silent_p.I955I|SPATA13_ENST00000399949.2_Silent_p.I252I|SPATA13_ENST00000382095.4_Silent_p.I330I|SPATA13_ENST00000409126.1_Silent_p.I190I|SPATA13_ENST00000343003.6_Silent_p.I274I Q96N96 SPT13_HUMAN spermatogenesis associated 13 330 cell migration|filopodium assembly|lamellipodium assembly|regulation of cell migration|regulation of Rho protein signal transduction cytoplasm|filopodium|lamellipodium|ruffle membrane protein binding|Rac guanyl-nucleotide exchange factor activity breast(4)|endometrium(2)|large_intestine(9)|lung(4)|ovary(1)|prostate(1)|skin(2) 23 all_cancers(29;4.05e-15)|all_lung(29;2.77e-14)|all_epithelial(30;7.77e-13)|Lung SC(185;0.0279) all cancers(112;0.00616)|Epithelial(112;0.0195)|OV - Ovarian serous cystadenocarcinoma(117;0.0705)|Lung(94;0.231) GCTTTGCCATCTATTCCGAGT 0.562000 46 128 0 0 1 0 0 SIGLEC7 27036 broad.mit.edu 37 19 51645678 51645678 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:51645678G>A ENST00000317643.6 + 1 121 c.52G>A c.(52-54)Gga>Aga p.G18R SIGLEC7_ENST00000305628.7_Missense_Mutation_p.G18R|SIGLEC7_ENST00000600577.1_Missense_Mutation_p.G18R NM_014385.2 NP_055200.1 Q9Y286 SIGL7_HUMAN sialic acid binding Ig-like lectin 7 18 cell adhesion integral to plasma membrane receptor activity|sugar binding autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(11)|skin(2)|stomach(1) 29 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.000836)|OV - Ovarian serous cystadenocarcinoma(262;0.00297) GAGGGTGGAAGGACAGAAGAG 0.612000 21 52 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179532199 179532199 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:179532199G>A ENST00000589042.1 - 161 35907 c.35683C>T c.(35683-35685)Cct>Tct p.P11895S TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000589487.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 10034 Glu-rich.|Pro-rich. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) CTCTTTTTAGGAATAGTCACA 0.313000 12 26 0 0 1 0 0 SLC13A2 9058 broad.mit.edu 37 17 26817891 26817891 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:26817891G>A ENST00000444914.3 + 4 1108 c.688G>A c.(688-690)Gaa>Aaa p.E230K SLC13A2_ENST00000545060.1_Missense_Mutation_p.E138K|SLC13A2_ENST00000314669.5_Missense_Mutation_p.E181K|SLC13A2_ENST00000537681.1_Missense_Mutation_p.E110K NM_001145975.1 NP_001139447.1 Q13183 S13A2_HUMAN solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 2 181 integral to plasma membrane|membrane fraction low affinity sodium:dicarboxylate symporter activity breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 all_lung(13;0.000871)|Lung NSC(42;0.0027) UCEC - Uterine corpus endometrioid carcinoma (53;0.154) Succinic acid(DB00139) CGAGCTCCAGGAACCAAGTCC 0.592000 18 29 0 0 1 0 0 TBCK 93627 broad.mit.edu 37 4 107163713 107163713 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:107163713C>T ENST00000273980.4 - 13 1531 c.1084G>A c.(1084-1086)Gat>Aat p.D362N TBCK_ENST00000394706.3_Missense_Mutation_p.D323N|TBCK_ENST00000361687.4_Missense_Mutation_p.D299N|TBCK_ENST00000432496.2_Missense_Mutation_p.D362N|TBCK_ENST00000394708.2_Missense_Mutation_p.D362N Q8TEA7 TBCK_HUMAN TBC1 domain containing kinase 362 intracellular Rab GTPase activator activity NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1) 25 CTTTCACCATCCTCAAAGAGA 0.313000 23 47 0 0 1 0 0 SEC24A 10802 broad.mit.edu 37 5 134010904 134010904 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:134010904C>T ENST00000398844.2 + 6 1436 c.1148C>T c.(1147-1149)cCa>cTa p.P383L SEC24A_ENST00000322887.4_Missense_Mutation_p.P383L NM_021982.2 NP_068817.1 O95486 SC24A_HUMAN SEC24 family member A 383 COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm zinc ion binding NS(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 36 KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) AACTGTAACCCAGAGTAAGGC 0.398000 24 39 0 0 1 0 0 MYO5B 4645 broad.mit.edu 37 18 47429093 47429093 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr18:47429093G>A ENST00000285039.7 - 21 2981 c.2682C>T c.(2680-2682)ttC>ttT p.F894F MYO5B_ENST00000324581.6_Silent_p.F35F NM_001080467.2 NP_001073936.1 Q9ULV0 MYO5B_HUMAN myosin VB 894 Arg-rich.|IQ 5.|IQ 6. protein transport myosin complex actin binding|ATP binding|calmodulin binding|motor activity NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4) 87 READ - Rectum adenocarcinoma(32;0.103) TGAGCATCCGGAAGGCACACT 0.622000 29 70 0 0 1 0 0 SEZ6L 23544 broad.mit.edu 37 22 26706750 26706750 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr22:26706750G>A ENST00000529632.2 + 7 1825 c.1629G>A c.(1627-1629)gaG>gaA p.E543E SEZ6L_ENST00000248933.6_Silent_p.E543E|SEZ6L_ENST00000402979.1_Silent_p.E316E|SEZ6L_ENST00000403121.1_Silent_p.E316E|SEZ6L_ENST00000343706.4_Silent_p.E543E|SEZ6L_ENST00000404234.3_Silent_p.E543E|SEZ6L_ENST00000360929.3_Silent_p.E543E NM_001184774.1|NM_001184775.1|NM_001184777.1 NP_001171703.1|NP_001171704.1|NP_001171706.1 Q9BYH1 SE6L1_HUMAN seizure related 6 homolog (mouse)-like 543 CUB 2. endoplasmic reticulum membrane|integral to membrane breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 80 TCCGCATCGAGTTCACGTCCG 0.602000 74 124 0 0 1 0 0 SMDT1 91689 broad.mit.edu 37 22 42477947 42477947 + Missense_Mutation SNP C C T rs146799814 TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr22:42477947C>T ENST00000331479.3 + 2 279 c.205C>T c.(205-207)Cgt>Tgt p.R69C SMDT1_ENST00000547929.1_Intron NM_033318.4 NP_201575.3 single-pass membrane protein with aspartate-rich tail 1 CGGCCTTCTCCGTGTGTTCTC 0.517000 28 94 0 0 1 0 0 VN1R2 317701 broad.mit.edu 37 19 53762656 53762656 + Missense_Mutation SNP A A G TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:53762656A>G ENST00000341702.3 + 1 1112 c.1028A>G c.(1027-1029)aAt>aGt p.N343S VN1R2_ENST00000598458.1_Intron NM_173856.2 NP_776255.2 Q8NFZ6 VN1R2_HUMAN vomeronasal 1 receptor 2 343 response to pheromone integral to membrane|plasma membrane pheromone receptor activity breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1) 31 GBM - Glioblastoma multiforme(134;0.00301) CTCTTCGATAATTCCAGTTGG 0.468000 5 265 0 0 1 0 0 AHNAK2 113146 broad.mit.edu 37 14 105420246 105420246 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr14:105420246C>T ENST00000333244.5 - 7 1661 c.1542G>A c.(1540-1542)ggG>ggA p.G514G NM_138420.2 NP_612429.2 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 514 nucleus cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3) 33 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) CCTGTCTCTTCCCTCGCTGTG 0.527000 7 147 0 0 1 0 0 DNAH11 8701 broad.mit.edu 37 7 21789908 21789908 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:21789908C>T ENST00000328843.6 + 55 8918 c.8887C>T c.(8887-8889)Cat>Tat p.H2963Y DNAH11_ENST00000409508.3_Missense_Mutation_p.H2956Y Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 2963 AAA 4 (By similarity). microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 230 TAATGAAGTTCATGCTCTGGG 0.403000 Kartagener syndrome 5 13 0 0 1 0 0 PCDHGA1 56114 broad.mit.edu 37 5 140710476 140710476 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:140710476C>T ENST00000517417.1 + 1 225 c.225C>T c.(223-225)ttC>ttT p.F75F PCDHGA1_ENST00000378105.3_Silent_p.F75F NM_018912.2 NP_061735.1 breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 78 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGCCGCTTTTCGCTCTGAATC 0.582000 96 195 0 0 1 0 0 ZNF324 25799 broad.mit.edu 37 19 58982673 58982673 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:58982673C>T ENST00000536459.2 + 4 1523 c.814C>T c.(814-816)Ctc>Ttc p.L272F ZNF324_ENST00000196482.3_Missense_Mutation_p.L272F|ZNF324_ENST00000535298.1_Missense_Mutation_p.L49F O75467 Z324A_HUMAN zinc finger protein 324 272 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(2)|prostate(2)|urinary_tract(2) 16 all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179) GAGCTCCGACCTCCTCAAGCA 0.657000 24 62 0 0 1 0 0 VPS13D 55187 broad.mit.edu 37 1 12475204 12475204 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:12475204C>T ENST00000358136.3 + 64 12225 c.12095C>T c.(12094-12096)cCa>cTa p.P4032L VPS13D_ENST00000543766.1_Missense_Mutation_p.P30L|VPS13D_ENST00000496628.1_3'UTR|VPS13D_ENST00000356315.4_Missense_Mutation_p.P4007L NM_015378.2 NP_056193.2 Q5THJ4 VP13D_HUMAN vacuolar protein sorting 13 homolog D (S. cerevisiae) 4031 protein localization NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4) 130 Ovarian(185;0.249) Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209) AATCTAGATCCATTCACTCGG 0.428000 35 74 0 0 1 0 0 NIPSNAP3B 55335 broad.mit.edu 37 9 107526551 107526551 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:107526551G>A ENST00000374762.3 + 1 101 c.30G>A c.(28-30)aaG>aaA p.K10K NIPSNAP3B_ENST00000461177.1_3'UTR NM_018376.2 NP_060846.2 Q9BS92 NPS3B_HUMAN nipsnap homolog 3B (C. elegans) 10 breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|pancreas(1)|prostate(1)|skin(1)|stomach(2) 11 GCCTGACCAAGGCGCTTGCCT 0.667000 3 4 0 0 1 0 0 INTS7 25896 broad.mit.edu 37 1 212118177 212118177 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:212118177G>A ENST00000366994.3 - 19 2654 c.2550C>T c.(2548-2550)gtC>gtT p.V850V INTS7_ENST00000469606.1_5'UTR|INTS7_ENST00000440600.2_Silent_p.V801V|INTS7_ENST00000366992.3_Silent_p.V830V|INTS7_ENST00000366993.3_Silent_p.V836V NM_001199811.1|NM_001199812.1|NM_015434.3 NP_001186740.1|NP_001186741.1|NP_056249.1 Q9NVH2 INT7_HUMAN integrator complex subunit 7 850 snRNA processing integrator complex protein binding NS(1)|breast(1)|kidney(1)|large_intestine(8)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 20 OV - Ovarian serous cystadenocarcinoma(81;0.00584)|all cancers(67;0.0318)|Epithelial(68;0.0852) CATTCAGACAGACAGACTGAA 0.443000 93 121 0 0 1 0 0 ZCCHC5 203430 broad.mit.edu 37 X 77912693 77912693 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chrX:77912693C>T ENST00000321110.1 - 2 1520 c.1225G>A c.(1225-1227)Gga>Aga p.G409R NM_152694.2 NP_689907.1 Q8N8U3 ZCHC5_HUMAN zinc finger, CCHC domain containing 5 409 nucleic acid binding|zinc ion binding p.G409*(1) breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)|prostate(1)|skin(1) 37 GGTCCATCTCCCTCTGCAGAG 0.527000 46 24 0 0 1 0 0 TAS2R38 5726 broad.mit.edu 37 7 141673039 141673039 + Missense_Mutation SNP A A G TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:141673039A>G ENST00000547270.1 - 1 534 c.451T>C c.(451-453)Tcc>Ccc p.S151P NM_176817.4 NP_789787.4 P59533 T2R38_HUMAN taste receptor, type 2, member 38 151 sensory perception of taste integral to membrane G-protein coupled receptor activity NS(2)|breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)|stomach(1) 21 Melanoma(164;0.0171) CAGATGCAGGAGCAAAGAATA 0.478000 5 79 0 0 1 0 0 RGPD3 653489 broad.mit.edu 37 2 107041069 107041069 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:107041069C>T ENST00000409886.3 - 20 3441 c.3354G>A c.(3352-3354)atG>atA p.M1118I RGPD3_ENST00000304514.7_Missense_Mutation_p.M1118I NM_001144013.1 NP_001137485.1 A6NKT7 RGPD3_HUMAN RANBP2-like and GRIP domain containing 3 1118 RanBD1 1. intracellular transport binding breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2) 71 GCTTCAGGTTCATTGTAGTCG 0.408000 106 266 0 0 1 0 0 PCDH18 54510 broad.mit.edu 37 4 138452999 138452999 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:138452999C>T ENST00000344876.4 - 1 630 c.244G>A c.(244-246)Gat>Aat p.D82N PCDH18_ENST00000511115.1_Intron|PCDH18_ENST00000510305.1_Intron|PCDH18_ENST00000507846.1_Intron|PCDH18_ENST00000412923.2_Missense_Mutation_p.D82N NM_019035.3 NP_061908.1 Q9HCL0 PCD18_HUMAN protocadherin 18 82 Cadherin 1. brain development|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 86 all_hematologic(180;0.24) TCCCCATTATCCTCGTTTACT 0.433000 65 180 0 0 1 0 0 DSC3 1825 broad.mit.edu 37 18 28584291 28584291 + Nonsense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr18:28584291G>A ENST00000434452.1 - 13 2084 c.1930C>T c.(1930-1932)Caa>Taa p.Q644* DSC3_ENST00000360428.4_Nonsense_Mutation_p.Q644* NM_024423.2 NP_077741.2 Q14574 DSC3_HUMAN desmocollin 3 644 Cadherin 5. homophilic cell adhesion|protein stabilization desmosome|integral to membrane|membrane fraction calcium ion binding|gamma-catenin binding endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 56 OV - Ovarian serous cystadenocarcinoma(10;0.125) GTATATTCTTGAAATCCAGCA 0.343000 34 88 0 0 1 0 0 ZFYVE26 23503 broad.mit.edu 37 14 68251983 68251983 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr14:68251983G>A ENST00000347230.4 - 19 3454 c.3316C>T c.(3316-3318)Cct>Tct p.P1106S ZFYVE26_ENST00000555452.1_Missense_Mutation_p.P1106S NM_015346.3 NP_056161.2 Q68DK2 ZFY26_HUMAN zinc finger, FYVE domain containing 26 1106 cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination centrosome|midbody metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4) 94 all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115) GACAGTGGAGGAGTCCTGGGC 0.572000 10 16 0 0 1 0 0 GNAS 2778 broad.mit.edu 37 20 57415471 57415471 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr20:57415471G>A ENST00000313949.7 + 1 699 c.310G>A c.(310-312)Gag>Aag p.E104K GNAS-AS1_ENST00000443966.1_RNA|GNAS-AS1_ENST00000598163.1_RNA|GNAS_ENST00000371075.3_Missense_Mutation_p.E104K|GNAS_ENST00000371098.2_Missense_Mutation_p.E104K|GNAS-AS1_ENST00000424094.2_RNA P63092 GNAS2_HUMAN GNAS complex locus 117 activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1) 441 all_lung(29;0.0104) BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109) CCTAGAGTACGAGGAAGAGTT 0.627000 Mis pituitary adenoma """McCune-Albright syndrome; pseudohypoparathyroidism, type IA""" TSP Lung(22;0.16) 66 110 0 0 1 0 0 TAS2R31 259290 broad.mit.edu 37 12 11183773 11183773 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:11183773G>A ENST00000390675.2 - 1 233 c.162C>T c.(160-162)tcC>tcT p.S54S TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron NM_176885.2 NP_795366.2 P59538 T2R31_HUMAN taste receptor, type 2, member 31 54 sensory perception of taste integral to membrane G-protein coupled receptor activity kidney(1)|lung(6) 7 AACCAACTCTGGAGACCGCCA 0.378000 64 133 0 0 1 0 0 IGKV6-21 28906 broad.mit.edu 37 2 89459263 89459263 + RNA SNP T T A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:89459263T>A ENST00000390256.2 - 0 377 ATGACAGTAATACGTTGCAGC 0.488000 96 149 0 0 1 0 0 CLVS1 157807 broad.mit.edu 37 8 62212619 62212619 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:62212619G>A ENST00000519846.1 + 3 705 c.233G>A c.(232-234)aGa>aAa p.R78K CLVS1_ENST00000325897.4_Missense_Mutation_p.R78K|CLVS1_ENST00000518592.1_Intron Q8IUQ0 CLVS1_HUMAN clavesin 1 78 lysosome organization clathrin-coated vesicle|early endosome membrane|trans-Golgi network phosphatidylinositol-3,5-bisphosphate binding|transporter activity endometrium(3)|kidney(4)|large_intestine(4)|lung(21)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 41 TTCATCCTGAGATTTCTCCGA 0.463000 40 58 0 0 1 0 0 PSG3 5671 broad.mit.edu 37 19 43233439 43233439 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:43233439G>A ENST00000327495.5 - 5 1263 c.1079C>T c.(1078-1080)cCa>cTa p.P360L PSG3_ENST00000595140.1_Missense_Mutation_p.P360L NM_021016.3 NP_066296.2 Q16557 PSG3_HUMAN pregnancy specific beta-1-glycoprotein 3 360 Ig-like C2-type 3. Missing (in Ref. 9). defense response|female pregnancy extracellular region central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 36 Prostate(69;0.00682) TTCTGCTGGTGGGTTAGAGTC 0.453000 107 255 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179531975 179531975 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:179531975G>A ENST00000589042.1 - 162 36009 c.35785C>T c.(35785-35787)Cct>Tct p.P11929S TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000589487.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 10072 Pro-rich. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TCAGTTGGAGGATGTTCTGGA 0.338000 6 12 0 0 1 0 0 DSC1 1823 broad.mit.edu 37 18 28713945 28713945 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr18:28713945C>T ENST00000257197.3 - 13 2286 c.2025G>A c.(2023-2025)atG>atA p.M675I RP11-408H20.2_ENST00000581836.1_RNA|DSC1_ENST00000257198.5_Missense_Mutation_p.M675I NM_004948.3 NP_004939.1 Q08554 DSC1_HUMAN desmocollin 1 675 Cadherin 5. homophilic cell adhesion desmosome|gap junction|integral to membrane|membrane fraction calcium ion binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 53 OV - Ovarian serous cystadenocarcinoma(10;0.00778) TTTTATCCTTCATTCTACACT 0.358000 47 98 0 0 1 0 0 ZNF28 7576 broad.mit.edu 37 19 53303381 53303381 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:53303381G>A ENST00000438150.2 - 2 2451 c.1558C>T c.(1558-1560)Cat>Tat p.H520Y ZNF28_ENST00000457749.2_Missense_Mutation_p.H573Y|ZNF28_ENST00000414252.2_Missense_Mutation_p.H520Y|ZNF28_ENST00000360272.4_Missense_Mutation_p.H520Y P17035 ZNF28_HUMAN zinc finger protein 28 573 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145) TCTCCAGTATGAATCCTCCTA 0.418000 67 160 0 0 1 0 0 ZNF99 7652 broad.mit.edu 37 19 22939768 22939768 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:22939768C>T ENST00000397104.3 - 6 2562 c.2563G>A c.(2563-2565)Gag>Aag p.E855K zinc finger protein 99 NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3) 124 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102) TATGGTTTCTCCCCAGTATGA 0.353000 26 60 0 0 1 0 0 OR13C3 138803 broad.mit.edu 37 9 107298258 107298258 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:107298258G>A ENST00000374781.2 - 1 879 c.837C>T c.(835-837)atC>atT p.I279I NM_001001961.1 NP_001001961.1 Q8NGS6 O13C3_HUMAN olfactory receptor, family 13, subfamily C, member 3 279 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(1)|skin(1) 19 CGTAAAATATGATCACCACAG 0.428000 51 120 0 0 1 0 0 KLHL34 257240 broad.mit.edu 37 X 21675040 21675040 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chrX:21675040C>T ENST00000379499.2 - 1 1408 c.867G>A c.(865-867)agG>agA p.R289R NM_153270.1 NP_695002.1 Q8N239 KLH34_HUMAN kelch-like family member 34 289 cervix(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|urinary_tract(1) 26 CCTCCCGTGCCCTGCGCCCCC 0.692000 10 4 0 0 1 0 0 NUP210 23225 broad.mit.edu 37 3 13364833 13364833 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:13364833C>T ENST00000254508.5 - 34 4826 c.4744G>A c.(4744-4746)Gga>Aga p.G1582R NM_024923.2 NP_079199.2 Q8TEM1 PO210_HUMAN nucleoporin 210kDa 1582 carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction endoplasmic reticulum membrane|nuclear membrane|nuclear pore NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2) 66 all_neural(104;0.187) CTTCTGTCTCCCACGGCAACA 0.587000 94 173 0 0 1 0 0 MUT 4594 broad.mit.edu 37 6 49427134 49427134 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:49427134G>A ENST00000274813.3 - 2 173 c.46C>T c.(46-48)Ctg>Ttg p.L16L NM_000255.3 NP_000246.2 P22033 MUTA_HUMAN methylmalonyl CoA mutase 16 fatty acid beta-oxidation mitochondrial matrix cobalamin binding|metal ion binding|methylmalonyl-CoA mutase activity endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 30 Lung NSC(77;0.0376) Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) ACCTGCCTCAGGTAATGAGGT 0.438000 36 95 0 0 1 0 0 TACR3 6870 broad.mit.edu 37 4 104511123 104511123 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:104511123G>A ENST00000304883.2 - 5 1254 c.1114C>T c.(1114-1116)Cgc>Tgc p.R372C RP11-297P16.3_ENST00000512401.1_RNA|RP11-297P16.3_ENST00000502936.1_RNA NM_001059.2 NP_001050.1 P29371 NK3R_HUMAN tachykinin receptor 3 372 integral to plasma membrane tachykinin receptor activity breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 51 Hepatocellular(203;0.217) UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08) GGACACCAGCGAAATGCTCTC 0.448000 37 52 0 0 1 0 0 FAM218A 152756 broad.mit.edu 37 4 165878404 165878404 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:165878404C>T ENST00000513876.2 + 1 305 c.230C>T c.(229-231)tCc>tTc p.S77F TRIM61_ENST00000329314.5_Intron NM_153027.1 NP_694572.1 Q96MZ4 CD039_HUMAN family with sequence similarity 218, member A 77 CTCCACCAATCCTGGGAGAAG 0.582000 14 33 0 0 1 0 0 WDR66 144406 broad.mit.edu 37 12 122398590 122398590 + Nonsense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:122398590C>T ENST00000288912.4 + 14 3087 c.2233C>T c.(2233-2235)Cga>Tga p.R745* WDR66_ENST00000397454.2_Nonsense_Mutation_p.R745* NM_144668.5 NP_653269.3 Q8TBY9 WDR66_HUMAN WD repeat domain 66 745 calcium ion binding p.R745*(1) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(13)|ovary(2)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 all_neural(191;0.0496)|Medulloblastoma(191;0.0922) OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248) CAAAAGCATTCGAAGTCTCCT 0.488000 56 78 0 0 1 0 0 ERO1LB 56605 broad.mit.edu 37 1 236388415 236388415 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:236388415C>T ENST00000354619.5 - 13 1278 c.1077G>A c.(1075-1077)gaG>gaA p.E359E NM_019891.3 NP_063944.3 Q86YB8 ERO1B_HUMAN ERO1-like beta (S. cerevisiae) 359 electron transport chain|protein thiol-disulfide exchange|transport endoplasmic reticulum membrane flavin adenine dinucleotide binding|oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor|unfolded protein binding NS(1)|endometrium(3)|large_intestine(8)|lung(8)|skin(2)|urinary_tract(1) 23 Ovarian(103;0.0634)|Breast(184;0.247) all_cancers(173;0.123)|Acute lymphoblastic leukemia(190;0.205)|Prostate(94;0.219) OV - Ovarian serous cystadenocarcinoma(106;0.00162) ACATGGATTTCTCATCAAAGT 0.393000 27 149 0 0 1 0 0 CCDC11 220136 broad.mit.edu 37 18 47792709 47792709 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr18:47792709G>A ENST00000398545.4 - 1 183 c.66C>T c.(64-66)atC>atT p.I22I NM_145020.3 NP_659457.2 Q96M91 CCD11_HUMAN coiled-coil domain containing 11 22 endometrium(1)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|pancreas(1)|skin(1) 20 STAD - Stomach adenocarcinoma(97;2.66e-05)|Colorectal(21;7.57e-05)|Lung(128;0.00932)|READ - Rectum adenocarcinoma(32;0.164) TGCTTACCACGATCACCACTT 0.637000 8 246 0 0 1 0 0 CELA3A 10136 broad.mit.edu 37 1 22328190 22328190 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:22328190C>T ENST00000290122.3 + 1 42 c.23C>T c.(22-24)tCc>tTc p.S8F CELA3A_ENST00000374663.1_Missense_Mutation_p.S8F NM_005747.4 NP_005738.4 chymotrypsin-like elastase family, member 3A endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 CTGCTCAGTTCCCTCCTCCTT 0.552000 94 258 0 0 1 0 0 SETBP1 26040 broad.mit.edu 37 18 42531327 42531327 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr18:42531327G>A ENST00000282030.5 + 4 2318 c.2022G>A c.(2020-2022)agG>agA p.R674R NM_015559.2 NP_056374.2 Q9Y6X0 SETBP_HUMAN SET binding protein 1 674 nucleus DNA binding NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 104 Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201) CACTCAAGAGGAAAAACATCT 0.463000 Schinzel-Giedion syndrome 33 86 0 0 1 0 0 BTBD16 118663 broad.mit.edu 37 10 124090695 124090695 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:124090695G>A ENST00000368994.2 + 12 1262 c.1011G>A c.(1009-1011)aaG>aaA p.K337K BTBD16_ENST00000260723.4_Silent_p.K336K Q32M84 BTBDG_HUMAN BTB (POZ) domain containing 16 336 breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(3)|skin(2)|stomach(1)|urinary_tract(1) 15 all_neural(114;0.107)|Lung NSC(174;0.175)|all_lung(145;0.222)|Breast(234;0.238) TCCCAGGCAAGGATCTGGAGG 0.478000 31 89 0 0 1 0 0 CAV3 859 broad.mit.edu 37 3 8787384 8787384 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:8787384C>T ENST00000343849.2 + 2 364 c.287C>T c.(286-288)tCc>tTc p.S96F CAV3_ENST00000472766.1_Intron|CAV3_ENST00000397368.2_Missense_Mutation_p.S96F NM_001234.4|NM_033337.2 NP_001225.1|NP_203123.1 P56539 CAV3_HUMAN caveolin 3 96 Required for interaction with DAG1. cell growth|elevation of cytosolic calcium ion concentration|muscle organ development|negative regulation of cardiac muscle hypertrophy|negative regulation of cell size|negative regulation of MAP kinase activity|negative regulation of sarcomere organization|positive regulation of microtubule polymerization|regulation of skeletal muscle contraction|regulation of ventricular cardiomyocyte membrane repolarization|T-tubule organization caveola|dystrophin-associated glycoprotein complex|Golgi membrane|neuromuscular junction|T-tubule protein C-terminus binding|protein complex binding|protein complex scaffold|sodium channel regulator activity breast(1)|kidney(2)|large_intestine(4)|lung(3)|prostate(1) 11 GCCTGCATCTCCTTCTGCCAC 0.582000 14 48 0 0 1 0 0 FRYL 285527 broad.mit.edu 37 4 48592750 48592750 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:48592750G>A ENST00000358350.4 - 17 2037 c.1433C>T c.(1432-1434)cCc>cTc p.P478L FRYL_ENST00000506685.1_Missense_Mutation_p.P184L|FRYL_ENST00000503238.1_Missense_Mutation_p.P478L|FRYL_ENST00000264319.7_5'UTR|FRYL_ENST00000537810.1_Missense_Mutation_p.P478L|FRYL_ENST00000507711.1_Missense_Mutation_p.P478L NM_015030.1 NP_055845.1 O94915 FRYL_HUMAN FRY-like 478 regulation of transcription, DNA-dependent|transcription, DNA-dependent protein binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 91 ATTTCCTGAGGGAAGAATAAC 0.363000 25 118 0 0 1 0 0 C1orf106 55765 broad.mit.edu 37 1 200880589 200880589 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:200880589C>T ENST00000367342.4 + 9 1423 c.1223C>T c.(1222-1224)tCc>tTc p.S408F C1orf106_ENST00000413687.2_Missense_Mutation_p.S323F NM_018265.3 NP_060735.3 Q3KP66 CA106_HUMAN chromosome 1 open reading frame 106 408 endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(2) 21 AGGGTGGATTCCTTCCGGGCG 0.632000 37 514 0 0 1 0 0 APEH 327 broad.mit.edu 37 3 49714114 49714114 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:49714114C>T ENST00000296456.5 + 8 1217 c.817C>T c.(817-819)Cgc>Tgc p.R273C APEH_ENST00000438011.1_Missense_Mutation_p.R273C NM_001640.3 NP_001631.3 P13798 ACPH_HUMAN acylaminoacyl-peptide hydrolase 273 proteolysis cytoplasm|nuclear membrane serine-type endopeptidase activity endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|stomach(2)|urinary_tract(1) 15 BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244) GTTGGGCATCCGCTTTTGCAC 0.597000 37 45 0 0 1 0 0 SPTA1 6708 broad.mit.edu 37 1 158592791 158592791 + Missense_Mutation SNP T T A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:158592791T>A ENST00000368148.3 - 43 6282 c.6102A>T c.(6100-6102)aaA>aaT p.K2034N SPTA1_ENST00000368147.3_Missense_Mutation_p.K2031N|SPTA1_ENST00000461624.1_5'UTR NM_003126.2 NP_003117.2 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 (elliptocytosis 2) 2034 actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6) 307 all_hematologic(112;0.0378) GAGGCAGCTGTTTCTCCAGCA 0.448000 20 342 0 0 1 0 0 HSP90AB1 3326 broad.mit.edu 37 6 44219162 44219162 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:44219162C>T ENST00000371554.1 + 8 1345 c.1131C>T c.(1129-1131)atC>atT p.I377I HSP90AB1_ENST00000353801.3_Silent_p.I377I|HSP90AB1_ENST00000371646.5_Silent_p.I377I P08238 HS90B_HUMAN heat shock protein 90kDa alpha (cytosolic), class B member 1 377 axon guidance|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of nitric oxide biosynthetic process|protein folding|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to unfolded protein cytosol|melanosome ATP binding|nitric-oxide synthase regulator activity|TPR domain binding|unfolded protein binding NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(12)|prostate(2)|skin(2)|urinary_tract(2) 33 all_cancers(18;1.7e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) CAGATTTTATCCGTGGTGTGG 0.458000 11 34 0 0 1 0 0 DSG3 1830 broad.mit.edu 37 18 29055712 29055712 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr18:29055712C>T ENST00000257189.4 + 16 2572 c.2489C>T c.(2488-2490)tCc>tTc p.S830F NM_001944.2 NP_001935.2 P32926 DSG3_HUMAN desmoglein 3 830 cellular component disassembly involved in apoptosis|homophilic cell adhesion cytosol|desmosome|integral to membrane calcium ion binding breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1) 62 OV - Ovarian serous cystadenocarcinoma(10;0.00504) CCTGTGGGCTCCGTGGGTTGT 0.478000 25 78 0 0 1 0 0 GRIK3 2899 broad.mit.edu 37 1 37319298 37319298 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:37319298C>T ENST00000373091.3 - 8 1146 c.1130G>A c.(1129-1131)cGa>cAa p.R377Q GRIK3_ENST00000373093.4_Missense_Mutation_p.R377Q|GRIK3_ENST00000462621.1_5'UTR NM_000831.3 NP_000822.2 Q13003 GRIK3_HUMAN glutamate receptor, ionotropic, kainate 3 377 negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1) 89 Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169) L-Glutamic Acid(DB00142) GAAAACAATTCGTCCAGTTAA 0.498000 22 46 0 0 1 0 0 ZNF733P 643955 broad.mit.edu 37 7 62752445 62752445 + RNA SNP A A G TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:62752445A>G ENST00000331425.6 - 0 990 NR_003952.1 TATGTCTAGTAAGGTTTGAGG 0.443000 6 39 0 0 1 0 0 DSC1 1823 broad.mit.edu 37 18 28723666 28723666 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr18:28723666G>A ENST00000257197.3 - 8 1289 c.1028C>T c.(1027-1029)tCa>tTa p.S343L RP11-408H20.2_ENST00000581836.1_RNA|DSC1_ENST00000257198.5_Missense_Mutation_p.S343L NM_004948.3 NP_004939.1 Q08554 DSC1_HUMAN desmocollin 1 343 Cadherin 2. homophilic cell adhesion desmosome|gap junction|integral to membrane|membrane fraction calcium ion binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 53 OV - Ovarian serous cystadenocarcinoma(10;0.00778) ATCCTCAAGTGAAATAGTAAT 0.338000 22 47 0 0 1 0 0 SLCO6A1 133482 broad.mit.edu 37 5 101834397 101834397 + Missense_Mutation SNP A A T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:101834397A>T ENST00000506729.1 - 1 323 c.152T>A c.(151-153)cTg>cAg p.L51Q SLCO6A1_ENST00000379807.3_Missense_Mutation_p.L51Q|SLCO6A1_ENST00000389019.3_Missense_Mutation_p.L51Q|SLCO6A1_ENST00000513675.1_Missense_Mutation_p.L51Q|SLCO6A1_ENST00000379810.1_Missense_Mutation_p.L51Q Q86UG4 SO6A1_HUMAN solute carrier organic anion transporter family, member 6A1 51 integral to membrane|plasma membrane transporter activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323) Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113) AAGTAGTCTCAGATACCGGTG 0.572000 155 313 0 0 1 0 0 FBXO4 26272 broad.mit.edu 37 5 41927172 41927172 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:41927172G>A ENST00000296812.2 + 2 303 c.247G>A c.(247-249)Gga>Aga p.G83R FBXO4_ENST00000509134.1_Missense_Mutation_p.G83R|FBXO4_ENST00000281623.3_Missense_Mutation_p.G83R NM_033484.2 NP_277019.1 Q9UKT5 FBX4_HUMAN F-box protein 4 83 F-box. positive regulation of protein ubiquitination|protein polyubiquitination|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|telomere maintenance|ubiquitin-dependent protein catabolic process cytoplasm|SCF ubiquitin ligase complex protein binding|protein homodimerization activity|ubiquitin-protein ligase activity p.G83*(1) breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(11)|prostate(1)|stomach(1)|urinary_tract(2) 27 Lung NSC(810;4.15e-05)|Breast(839;0.00093)|Ovarian(839;0.00965)|Myeloproliferative disorder(839;0.0255)|all_neural(839;0.0604) GTGTCAGTTGGGAAGTACAAA 0.373000 6 252 0 0 1 0 0 CD300A 11314 broad.mit.edu 37 17 72480250 72480250 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:72480250G>A ENST00000360141.3 + 7 1173 c.885G>A c.(883-885)gtG>gtA p.V295V CD300A_ENST00000361933.3_Silent_p.V99V|CD300A_ENST00000392625.3_Silent_p.V146V|CD300A_ENST00000577511.1_Silent_p.V165V|CD300A_ENST00000310828.5_Silent_p.V182V NM_001256841.1|NM_007261.3 NP_001243770.1|NP_009192.2 Q9UGN4 CLM8_HUMAN CD300a molecule 295 cell adhesion integral to membrane|plasma membrane receptor activity breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(4)|urinary_tract(1) 16 ATTACAGTGTGATAAGGAAGA 0.537000 35 92 0 0 1 0 0 CMYA5 202333 broad.mit.edu 37 5 79031946 79031946 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:79031946C>T ENST00000446378.2 + 2 7389 c.7358C>T c.(7357-7359)cCa>cTa p.P2453L NM_153610.3 NP_705838.3 Q8N3K9 CMYA5_HUMAN cardiomyopathy associated 5 2453 perinuclear region of cytoplasm NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1) 128 Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262) OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35) TCTGTTAGTCCAACTGAGAAG 0.368000 22 49 0 0 1 0 0 CELP 1057 broad.mit.edu 37 9 135962298 135962298 + RNA SNP A A G TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:135962298A>G ENST00000411440.2 + 0 805 NR_001275.2 CTGAGAACCAACTTCCTGCGC 0.607000 12 30 0 0 1 0 0 GRM8 2918 broad.mit.edu 37 7 126173867 126173867 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:126173867C>T ENST00000339582.2 - 9 2377 c.1569G>A c.(1567-1569)ggG>ggA p.G523G GRM8_ENST00000358373.3_Silent_p.G523G|GRM8_ENST00000444921.2_Silent_p.G523G|GRM8_ENST00000480995.1_Intron O00222 GRM8_HUMAN glutamate receptor, metabotropic 8 523 negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception integral to plasma membrane breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4) 125 Prostate(267;0.186) L-Glutamic Acid(DB00142) TCTTCCTCTCCCCTGGCTTAC 0.527000 HNSCC(24;0.065) 52 172 0 0 1 0 0 RACGAP1 29127 broad.mit.edu 37 12 50390963 50390963 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:50390963G>A ENST00000434422.1 - 11 1205 c.904C>T c.(904-906)Cca>Tca p.P302S RACGAP1_ENST00000427314.2_Missense_Mutation_p.P302S|RACGAP1_ENST00000547905.1_Missense_Mutation_p.P302S|RACGAP1_ENST00000312377.5_Missense_Mutation_p.P302S|RACGAP1_ENST00000454520.2_Missense_Mutation_p.P302S|RACGAP1_ENST00000551016.1_Missense_Mutation_p.P302S|RACGAP1_ENST00000547061.1_5'UTR Q9H0H5 RGAP1_HUMAN Rac GTPase activating protein 1 302 blood coagulation|cytokinesis, actomyosin contractile ring assembly|cytokinesis, initiation of separation|embryo development|microtubule-based movement|neuroblast proliferation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|spermatogenesis|sulfate transport acrosomal vesicle|cytosol|microtubule|midbody|nucleus|spindle alpha-tubulin binding|beta-tubulin binding|gamma-tubulin binding|GTPase activator activity|metal ion binding cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(6) 14 TTTCCACATGGAACACAGGAT 0.408000 29 45 0 0 1 0 0 PITPNM3 83394 broad.mit.edu 37 17 6374623 6374623 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:6374623G>A ENST00000262483.8 - 12 1569 c.1482C>T c.(1480-1482)gaC>gaT p.D494D ACKR6_ENST00000576664.1_5'UTR|ACKR6_ENST00000421306.3_Silent_p.D458D NM_031220.3 NP_112497.2 GTGGCGGGCTGTCCCGGGAGC 0.662000 9 24 0 0 1 0 0 IGHMBP2 3508 broad.mit.edu 37 11 68696817 68696817 + Silent SNP C C G TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:68696817C>G ENST00000255078.3 + 8 1338 c.1227C>G c.(1225-1227)gtC>gtG p.V409V NM_002180.2 NP_002171.2 P38935 SMBP2_HUMAN immunoglobulin mu binding protein 2 409 Leu-rich. cell death|DNA recombination|DNA repair|DNA replication|protein homooligomerization|transcription, DNA-dependent|translation axon|growth cone|nucleus|ribonucleoprotein complex ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' RNA helicase activity|ribosome binding|single-stranded DNA binding|transcription factor binding|tRNA binding|zinc ion binding central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|liver(1)|lung(15)|ovary(2)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713) CCACCACAGTCTCTCACAAGT 0.657000 9 138 0 0 1 0 0 IGFN1 91156 broad.mit.edu 37 1 201196260 201196260 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:201196260G>A ENST00000335211.4 + 23 11167 c.11037G>A c.(11035-11037)aaG>aaA p.K3679K IGFN1_ENST00000295591.8_3'UTR NM_001164586.1 NP_001158058.1 immunoglobulin-like and fibronectin type III domain containing 1 autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 TATCCCCGAAGGACAGCGGGG 0.617000 18 54 0 0 1 0 0 SNTB1 6641 broad.mit.edu 37 8 121644837 121644837 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:121644837C>T ENST00000395601.3 - 4 1257 c.843G>A c.(841-843)aaG>aaA p.K281K SNTB1_ENST00000519177.1_5'UTR|SNTB1_ENST00000517992.1_Silent_p.K281K NM_021021.3 NP_066301.1 Q13884 SNTB1_HUMAN syntrophin, beta 1 (dystrophin-associated protein A1, 59kDa, basic component 1) 281 PH 1. muscle contraction cell junction|cytoplasm|cytoskeleton|dystrophin-associated glycoprotein complex|sarcolemma actin binding|calmodulin binding NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(2)|skin(6) 24 Lung NSC(37;4.46e-09)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997) STAD - Stomach adenocarcinoma(47;0.00503) TGGCTGAGTCCTTGCTCCTTA 0.537000 22 51 0 0 1 0 0 GPRC5A 9052 broad.mit.edu 37 12 13061677 13061677 + Missense_Mutation SNP T T A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:13061677T>A ENST00000014914.5 + 2 1384 c.494T>A c.(493-495)tTt>tAt p.F165Y GPRC5A_ENST00000542056.1_Intron NM_003979.3 NP_003970.1 Q8NFJ5 RAI3_HUMAN G protein-coupled receptor, family C, group 5, member A 165 cytoplasmic vesicle membrane|Golgi apparatus|integral to plasma membrane G-protein coupled receptor activity breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1) 18 Prostate(47;0.141) BRCA - Breast invasive adenocarcinoma(232;0.0708) Tretinoin(DB00755) GTCAATGTCTTTTCTGAGCTT 0.502000 103 302 0 0 1 0 0 MSR1 4481 broad.mit.edu 37 8 16012609 16012609 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:16012609C>T ENST00000350896.3 - 6 1059 c.862G>A c.(862-864)Gga>Aga p.G288R MSR1_ENST00000262101.5_Missense_Mutation_p.G288R|MSR1_ENST00000381998.4_Missense_Mutation_p.G288R|MSR1_ENST00000445506.2_Missense_Mutation_p.G306R|MSR1_ENST00000536385.1_Missense_Mutation_p.G62R|MSR1_ENST00000355282.2_Missense_Mutation_p.G288R NM_138715.2|NM_138716.2 NP_619729.1|NP_619730.1 P21757 MSRE_HUMAN macrophage scavenger receptor 1 288 Collagen-like. cholesterol transport|plasma lipoprotein particle clearance|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis collagen|integral to plasma membrane|low-density lipoprotein particle low-density lipoprotein particle binding|protein binding|scavenger receptor activity haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(7)|lung(14)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 37 Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164) CCACTTTCTCCAGTGGGACCT 0.398000 4 51 0 0 1 0 0 POF1B 79983 broad.mit.edu 37 X 84614615 84614615 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chrX:84614615C>T ENST00000262753.4 - 4 523 c.378G>A c.(376-378)gtG>gtA p.V126V POF1B_ENST00000373145.3_Silent_p.V126V NM_024921.3 NP_079197.3 Q8WVV4 POF1B_HUMAN premature ovarian failure, 1B 126 actin binding central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1) 35 TAGTAAGTTTCACTGTTGGAG 0.323000 52 18 0 0 1 0 0 GGT6 124975 broad.mit.edu 37 17 4461803 4461803 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:4461803G>A ENST00000301395.3 - 3 952 c.893C>T c.(892-894)tCc>tTc p.S298F GGT6_ENST00000574154.1_Missense_Mutation_p.S330F|GGT6_ENST00000573591.1_Missense_Mutation_p.S182F|GGT6_ENST00000381550.3_Missense_Mutation_p.S336F NM_153338.2 NP_699169.2 Q6P531 GGT6_HUMAN gamma-glutamyltransferase 6 330 glutathione biosynthetic process integral to membrane acyltransferase activity|gamma-glutamyltransferase activity endometrium(2)|large_intestine(1)|lung(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 8 GGGCGCCCCGGAGCGCAGGGC 0.692000 9 14 0 0 1 0 0 RIC3 79608 broad.mit.edu 37 11 8132559 8132559 + Missense_Mutation SNP C C T rs150709893 byFrequency TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:8132559C>T ENST00000396677.2 - 3 309 c.310G>A c.(310-312)Gga>Aga p.G104R RIC3_ENST00000530060.1_5'UTR|RIC3_ENST00000425599.2_Missense_Mutation_p.G185R|RIC3_ENST00000309737.6_Missense_Mutation_p.G266R|RIC3_ENST00000539720.1_Missense_Mutation_p.G217R|RIC3_ENST00000343202.4_Missense_Mutation_p.G265R|RIC3_ENST00000335425.7_Missense_Mutation_p.G84R Q7Z5B4 RIC3_HUMAN RIC3 acetylcholine receptor chaperone 266 endoplasmic reticulum membrane|Golgi membrane|integral to membrane breast(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1) 17 Epithelial(150;2.89e-07)|BRCA - Breast invasive adenocarcinoma(625;0.204) TCTATCATTCCCATTCTTTCA 0.433000 10 101 0 0 1 0 0 ROR2 4920 broad.mit.edu 37 9 94495472 94495472 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:94495472G>A ENST00000375708.3 - 6 1067 c.869C>T c.(868-870)cCc>cTc p.P290L ROR2_ENST00000375715.1_Missense_Mutation_p.P150L|ROR2_ENST00000550066.1_5'UTR NM_004560.3 NP_004551.2 Q01974 ROR2_HUMAN receptor tyrosine kinase-like orphan receptor 2 290 FZ. negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 71 CTCAGGCATGGGCAGCGCCTC 0.697000 9 19 0 0 1 0 0 ZBTB4 57659 broad.mit.edu 37 17 7369728 7369728 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:7369728G>A ENST00000311403.4 - 3 732 c.393C>T c.(391-393)gtC>gtT p.V131V ZBTB4_ENST00000380599.4_Silent_p.V131V NM_020899.3 NP_065950.2 Q9P1Z0 ZBTB4_HUMAN zinc finger and BTB domain containing 4 131 BTB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(3)|skin(6) 36 Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255) COAD - Colon adenocarcinoma(228;4.1e-06)|READ - Rectum adenocarcinoma(115;0.0642) CAGCTGCTGGGACTCCTGGCA 0.612000 14 20 0 0 1 0 0 ERLEC1 27248 broad.mit.edu 37 2 54040108 54040108 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:54040108C>T ENST00000185150.4 + 11 1255 c.1124C>T c.(1123-1125)tCt>tTt p.S375F GPR75-ASB3_ENST00000352846.3_Intron|ASB3_ENST00000406625.2_Intron|ERLEC1_ENST00000405123.3_Missense_Mutation_p.S375F|ASB3_ENST00000498475.2_Intron|ERLEC1_ENST00000378239.5_Missense_Mutation_p.S321F NM_015701.4 NP_056516.2 Q96DZ1 ERLEC_HUMAN endoplasmic reticulum lectin 1 375 PRKCSH 2. ER-associated protein catabolic process endoplasmic reticulum lumen glycoprotein binding|protein binding endometrium(2)|large_intestine(4)|lung(8)|ovary(2)|stomach(1)|urinary_tract(1) 18 GGGAAAACCTCTGTGGTTGTC 0.408000 26 61 0 0 1 0 0 SERPINE1 5054 broad.mit.edu 37 7 100775237 100775237 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:100775237G>A ENST00000223095.4 + 4 744 c.587G>A c.(586-588)gGc>gAc p.G196D SERPINE1_ENST00000445463.2_Missense_Mutation_p.G181D NM_000602.4 NP_000593.1 P05121 PAI1_HUMAN serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1 196 angiogenesis|cellular response to chemical stimulus|cellular response to lipopolysaccharide|chronological cell aging|defense response to Gram-negative bacterium|fibrinolysis|negative regulation of apoptosis|negative regulation of cell adhesion mediated by integrin|negative regulation of fibrinolysis|negative regulation of plasminogen activation|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell-matrix adhesion|negative regulation of vascular wound healing|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of interleukin-8 production|positive regulation of leukotriene production involved in inflammatory response|positive regulation of monocyte chemotaxis|positive regulation of receptor-mediated endocytosis|regulation of receptor activity extracellular matrix|extracellular space|plasma membrane|platelet alpha granule lumen protease binding|serine-type endopeptidase inhibitor activity central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(3) 20 Lung NSC(181;0.136)|all_lung(186;0.182) Atorvastatin(DB01076)|Dimethyl sulfoxide(DB01093)|Drotrecogin alfa(DB00055)|Simvastatin(DB00641)|Tenecteplase(DB00031)|Troglitazone(DB00197)|Urokinase(DB00013) TACTTCAACGGCCAGTGGAAG 0.562000 88 365 0 0 1 0 0 HELZ2 85441 broad.mit.edu 37 20 62193435 62193435 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr20:62193435C>T ENST00000467148.1 - 10 6588 c.6519G>A c.(6517-6519)caG>caA p.Q2173Q HELZ2_ENST00000427522.2_Silent_p.Q1604Q NM_001037335.2 NP_001032412.2 helicase with zinc finger 2, transcriptional coactivator CTGGTGGGCCCTGAATGACCG 0.647000 19 31 0 0 1 0 0 POU2F3 25833 broad.mit.edu 37 11 120186101 120186101 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:120186101C>T ENST00000260264.4 + 11 1140 c.1106C>T c.(1105-1107)tCt>tTt p.S369F POU2F3_ENST00000543440.2_Missense_Mutation_p.S367F NM_001244682.1 NP_001231611.1 Q9UKI9 PO2F3_HUMAN POU class 2 homeobox 3 367 Ser-rich. negative regulation by host of viral transcription cytoplasm sequence-specific DNA binding large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1) 17 Breast(109;0.0011)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;6.85e-06) GGCCCCCTCTCTGTCCCTCCT 0.438000 10 66 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9050067 9050067 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:9050067C>T ENST00000397910.4 - 5 31767 c.31564G>A c.(31564-31566)Gaa>Aaa p.E10522K NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 10524 Thr-rich. L -> P (in Ref. 3; AAK74120). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding p.E10522K(1)|p.E6155K(1) NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 ATCATCATTTCTGTGGGGATT 0.507000 159 324 0 0 1 0 0 SEC22A 26984 broad.mit.edu 37 3 122928132 122928132 + Missense_Mutation SNP A A G TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:122928132A>G ENST00000309934.4 + 1 964 c.68A>G c.(67-69)gAt>gGt p.D23G SEC22A_ENST00000481965.2_Missense_Mutation_p.D23G|SEC22A_ENST00000492595.1_Missense_Mutation_p.D23G|SEC22A_ENST00000477063.1_3'UTR NM_012430.4 NP_036562.2 Q96IW7 SC22A_HUMAN SEC22 vesicle trafficking protein homolog A (S. cerevisiae) 23 Longin. ER to Golgi vesicle-mediated transport|protein transport endoplasmic reticulum membrane|integral to membrane transporter activity NS(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1) 10 GBM - Glioblastoma multiforme(114;0.0548) GCTTCTACTGATTATGAACAA 0.388000 46 70 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9090366 9090366 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:9090366G>A ENST00000397910.4 - 1 1652 c.1449C>T c.(1447-1449)ctC>ctT p.L483L NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 483 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 CTGTGGTTCTGAGCTCTCTTG 0.537000 59 95 0 0 1 0 0 SCN1A 6323 broad.mit.edu 37 2 166892893 166892893 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:166892893C>T ENST00000423058.2 - 16 3111 c.3094G>A c.(3094-3096)Gaa>Aaa p.E1032K AC010127.3_ENST00000597623.1_RNA|AC010127.3_ENST00000599041.1_RNA|SCN1A_ENST00000409050.1_Missense_Mutation_p.E1004K|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000375405.3_Missense_Mutation_p.E1021K|SCN1A_ENST00000303395.4_Missense_Mutation_p.E1032K|AC010127.3_ENST00000595268.1_RNA NM_001165963.1|NM_001202435.1 NP_001159435.1|NP_001189364.1 P35498 SCN1A_HUMAN sodium channel, voltage-gated, type I, alpha subunit 1032 voltage-gated sodium channel complex voltage-gated sodium channel activity NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1) 200 Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909) TGAATAAATTCATATATTTTT 0.323000 24 50 0 0 1 0 0 TPM2 7169 broad.mit.edu 37 9 35684750 35684750 + Silent SNP G G A rs1136580 TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:35684750G>A ENST00000378300.5 - 6 703 c.618C>T c.(616-618)tcC>tcT p.S206S TPM2_ENST00000360958.2_Silent_p.S206S|TPM2_ENST00000329305.2_Silent_p.S206S|TPM2_ENST00000378292.3_Intron P07951 TPM2_HUMAN tropomyosin 2 (beta) 206 muscle filament sliding|regulation of ATPase activity cytosol|muscle thin filament tropomyosin actin binding|structural constituent of muscle NS(1)|breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 all_epithelial(49;0.121) Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194) GGGCCTCCAGGGATTTCAAGT 0.642000 39 94 0 0 1 0 0 ZNF470 388566 broad.mit.edu 37 19 57089304 57089304 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:57089304C>T ENST00000330619.8 + 6 2193 c.1507C>T c.(1507-1509)Cat>Tat p.H503Y ZNF470_ENST00000601902.1_Intron|ZNF470_ENST00000391709.3_Missense_Mutation_p.H503Y NM_001001668.3 NP_001001668.3 Q6ECI4 ZN470_HUMAN zinc finger protein 470 503 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(7)|large_intestine(12)|lung(11)|ovary(1)|pancreas(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 41 Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157) GBM - Glioblastoma multiforme(193;0.0294) TCAGAGAATTCATACTGGAGA 0.448000 32 81 0 0 1 0 0 PRKCB 5579 broad.mit.edu 37 16 24231362 24231362 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr16:24231362C>T ENST00000321728.7 + 17 2119 c.1944C>T c.(1942-1944)ttC>ttT p.F648F PRKCB_ENST00000303531.7_3'UTR NM_212535.2 NP_997700.1 P05771 KPCB_HUMAN protein kinase C, beta 648 AGC-kinase C-terminal. apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent cytosol|nucleus|plasma membrane androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3) 9 Vitamin E(DB00163) ATAAACTCTTCATCATGAACT 0.438000 4 104 0 0 1 0 0 BCR 613 broad.mit.edu 37 22 23524176 23524176 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr22:23524176G>A ENST00000305877.8 + 1 1780 c.1029G>A c.(1027-1029)gaG>gaA p.E343E BCR_ENST00000359540.3_Silent_p.E343E|BCR_ENST00000398512.5_Silent_p.E343E NM_004327.3 NP_004318.3 P11274 BCR_HUMAN breakpoint cluster region 343 Binding to ABL SH2-domain.|Kinase. regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol ATP binding|GTPase activator activity|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity BCR/JAK2(6) central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1) 35 CCAGCGAGGAGGACTTCTCCT 0.637000 T """ABL1, FGFR1, JAK2 """ """CML, ALL, AML""" 21 31 0 0 1 0 0 IL1RL1 9173 broad.mit.edu 37 2 102959823 102959823 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:102959823G>A ENST00000311734.2 + 8 1257 c.918G>A c.(916-918)ctG>ctA p.L306L IL1RL1_ENST00000409584.1_Silent_p.L292L|IL1RL1_ENST00000233954.1_Silent_p.L306L|IL1RL1_ENST00000404917.2_Silent_p.L189L Q01638 ILRL1_HUMAN interleukin 1 receptor-like 1 306 Ig-like C2-type 3. innate immune response integral to membrane interleukin-1 receptor activity|receptor signaling protein activity NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(3)|urinary_tract(1) 16 GTCTGGCCCTGAATTTGCATG 0.433000 52 115 0 0 1 0 0 LRP4 4038 broad.mit.edu 37 11 46911521 46911521 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:46911521G>A ENST00000378623.1 - 15 2308 c.2066C>T c.(2065-2067)aCc>aTc p.T689I NM_002334.3 NP_002325.2 O75096 LRP4_HUMAN low density lipoprotein receptor-related protein 4 689 endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway integral to membrane calcium ion binding|receptor activity breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1) 70 Lung(87;0.159) GGGGTGCAAGGTGTGGATGTC 0.527000 OREG0020948 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 56 92 0 0 1 0 0 ITIH5 80760 broad.mit.edu 37 10 7605261 7605261 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:7605261C>T ENST00000256861.6 - 14 2692 c.2614G>A c.(2614-2616)Gga>Aga p.G872R ITIH5_ENST00000397146.2_Intron|ITIH5_ENST00000298441.6_Missense_Mutation_p.G658R|ITIH5_ENST00000446830.2_Missense_Mutation_p.G654R NM_030569.6 NP_085046.5 Q86UX2 ITIH5_HUMAN inter-alpha-trypsin inhibitor heavy chain family, member 5 872 hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3) 75 GGCCCCTCTCCCACCTGAAGG 0.572000 17 75 0 0 1 0 0 TTC16 158248 broad.mit.edu 37 9 130485599 130485599 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:130485599C>T ENST00000373289.3 + 7 939 c.859C>T c.(859-861)Ctc>Ttc p.L287F TTC16_ENST00000393748.4_Missense_Mutation_p.L111F|TTC16_ENST00000489226.1_3'UTR|PTRH1_ENST00000419060.1_Intron|PTRH1_ENST00000429848.1_Intron NM_144965.1 NP_659402.1 Q8NEE8 TTC16_HUMAN tetratricopeptide repeat domain 16 287 binding central_nervous_system(2)|endometrium(3)|lung(7)|ovary(3)|pancreas(2)|prostate(4)|skin(1) 22 GGACCCCAGTCTCTTCCTCTT 0.617000 23 51 0 0 1 0 0 TGM3 7053 broad.mit.edu 37 20 2291673 2291673 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr20:2291673G>A ENST00000381458.5 + 4 501 c.438G>A c.(436-438)atG>atA p.M146I NM_003245.3 NP_003236.3 Q08188 TGM3_HUMAN transglutaminase 3 146 cell envelope organization|hair follicle morphogenesis|keratinization|peptide cross-linking|protein tetramerization cytoplasm|extrinsic to internal side of plasma membrane acyltransferase activity|calcium ion binding|GDP binding|GTP binding|GTPase activity|magnesium ion binding|protein-glutamine gamma-glutamyltransferase activity breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(11)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2) 39 L-Glutamine(DB00130) GCGTCTTTATGGGTAACCACG 0.488000 54 130 0 0 1 0 0 FBXO3 26273 broad.mit.edu 37 11 33768858 33768858 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:33768858G>A ENST00000530401.1 - 10 1062 c.1042C>T c.(1042-1044)Cca>Tca p.P348S FBXO3_ENST00000526785.1_Missense_Mutation_p.P240S|FBXO3_ENST00000448981.2_Missense_Mutation_p.P353S|FBXO3_ENST00000532057.1_Missense_Mutation_p.P40S|FBXO3_ENST00000534136.1_Missense_Mutation_p.P353S|FBXO3_ENST00000531080.1_Missense_Mutation_p.P40S|FBXO3_ENST00000265651.3_Missense_Mutation_p.P353S Q9UK99 FBX3_HUMAN F-box protein 3 353 ApaG. proteolysis nucleus ubiquitin-protein ligase activity NS(1)|breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|pancreas(1)|stomach(1) 13 Lung NSC(402;0.0804) BRCA - Breast invasive adenocarcinoma(625;0.00315)|Lung(977;0.00488)|LUSC - Lung squamous cell carcinoma(625;0.008) CTGATGATTGGAAATTCACCT 0.343000 28 50 0 0 1 0 0 CD33 945 broad.mit.edu 37 19 51728743 51728743 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:51728743C>T ENST00000262262.4 + 2 328 c.307C>T c.(307-309)Ctg>Ttg p.L103L CD33_ENST00000436584.2_Intron|CD33_ENST00000391796.3_Silent_p.L103L|CD33_ENST00000421133.2_Intron NM_001772.3 NP_001763.3 P20138 CD33_HUMAN CD33 molecule 103 Ig-like V-type. cell adhesion|cell-cell signaling|negative regulation of cell proliferation external side of plasma membrane|integral to plasma membrane receptor activity|sugar binding NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(15)|skin(1)|stomach(1) 24 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.000224)|OV - Ovarian serous cystadenocarcinoma(262;0.00468) Gemtuzumab ozogamicin(DB00056) CAACTGCTCCCTGAGCATCGT 0.512000 45 99 0 0 1 0 0 OR13C5 138799 broad.mit.edu 37 9 107360950 107360950 + Missense_Mutation SNP T T A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:107360950T>A ENST00000374779.2 - 1 838 c.745A>T c.(745-747)Ata>Tta p.I249L NM_001004482.1 NP_001004482.1 Q8NGS8 O13C5_HUMAN olfactory receptor, family 13, subfamily C, member 5 249 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(4)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(4) 28 CAGAATGTTATCACCACAGTC 0.428000 28 83 0 0 1 0 0 MGAM 8972 broad.mit.edu 37 7 141734165 141734165 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:141734165G>A ENST00000475668.2 + 15 1827 c.1773G>A c.(1771-1773)gcG>gcA p.A591A MGAM_ENST00000549489.2_Silent_p.A591A O43451 MGA_HUMAN maltase-glucoamylase (alpha-glucosidase) 591 Maltase. polysaccharide digestion|starch catabolic process apical plasma membrane|integral to membrane carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2) 13 Melanoma(164;0.0272) Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878) ACTCCATGGCGGTCGCCACAG 0.433000 4 15 0 0 1 0 0 ZFAT 57623 broad.mit.edu 37 8 135649862 135649862 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:135649862G>A ENST00000520727.1 - 4 553 c.254C>T c.(253-255)cCg>cTg p.P85L ZFAT_ENST00000429442.2_Missense_Mutation_p.P85L|ZFAT_ENST00000520214.1_Missense_Mutation_p.P85L|ZFAT_ENST00000520356.1_Missense_Mutation_p.P85L|ZFAT_ENST00000523399.1_Missense_Mutation_p.P97L|ZFAT_ENST00000377838.3_Missense_Mutation_p.P97L NM_001029939.3 NP_001025110.2 Q9P243 ZFAT_HUMAN zinc finger and AT hook domain containing 97 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|nucleus DNA binding|zinc ion binding autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 54 all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0432) GTCCTCAGTCGGACTCACGAT 0.567000 52 105 0 0 1 0 0 POLRMT 5442 broad.mit.edu 37 19 622871 622871 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:622871G>A ENST00000588649.2 - 7 1489 c.1405C>T c.(1405-1407)Ccc>Tcc p.P469S NM_005035.3 NP_005026.3 O00411 RPOM_HUMAN polymerase (RNA) mitochondrial (DNA directed) 469 transcription initiation from mitochondrial promoter mitochondrial nucleoid DNA binding|DNA-directed RNA polymerase activity|protein binding cervix(2)|endometrium(3)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)|prostate(1)|stomach(1) 20 all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CACAGGAAGGGGTAAAGTGAG 0.697000 8 17 0 0 1 0 0 MYO1H 283446 broad.mit.edu 37 12 109865347 109865347 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:109865347G>A ENST00000310903.5 + 19 1963 c.1857G>A c.(1855-1857)cgG>cgA p.R619R MYO1H_ENST00000431443.2_Silent_p.R629R B4DNW6 B4DNW6_HUMAN myosin IH 0 myosin complex motor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(17)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 47 GGGTGAGACGGGCTGGTTTTG 0.433000 120 240 0 0 1 0 0 ERC2 26059 broad.mit.edu 37 3 56468522 56468522 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:56468522C>T ENST00000288221.6 - 2 769 c.514G>A c.(514-516)Gac>Aac p.D172N NM_015576.1 NP_056391.1 O15083 ERC2_HUMAN ELKS/RAB6-interacting/CAST family member 2 172 cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome protein binding breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1) 31 KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219) AATTTGCTGTCCTTGATGTCT 0.478000 112 263 0 0 1 0 0 FLG2 388698 broad.mit.edu 37 1 152329602 152329602 + Silent SNP C C G TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:152329602C>G ENST00000388718.5 - 3 732 c.660G>C c.(658-660)ggG>ggC p.G220G FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA NM_001014342.2 NP_001014364.1 Q5D862 FILA2_HUMAN filaggrin family member 2 220 Ser-rich. calcium ion binding|structural molecule activity NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 188 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CATACTCCTCCCCAGATTCCC 0.453000 133 191 0 0 1 0 0 DCAF4L2 138009 broad.mit.edu 37 8 88885064 88885064 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:88885064G>A ENST00000319675.3 - 1 1232 c.1136C>T c.(1135-1137)cCa>cTa p.P379L NM_152418.3 NP_689631.1 Q8NA75 DC4L2_HUMAN DDB1 and CUL4 associated factor 4-like 2 379 breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 83 GAGCAGCCCTGGTGCTCCTCG 0.567000 37 71 0 0 1 0 0 CATSPERD 257062 broad.mit.edu 37 19 5776305 5776305 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:5776305C>T ENST00000381624.3 + 21 2136 c.2075C>T c.(2074-2076)tCg>tTg p.S692L CATSPERD_ENST00000309164.7_3'UTR NM_152784.3 NP_689997.3 Q86XM0 TM146_HUMAN catsper channel auxiliary subunit delta 692 integral to membrane TTCTACATTTCGATCGTGGAT 0.587000 29 65 0 0 1 0 0 PLAG1 5324 broad.mit.edu 37 8 57079419 57079419 + Nonsense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:57079419G>A ENST00000316981.3 - 5 1365 c.886C>T c.(886-888)Cag>Tag p.Q296* PLAG1_ENST00000429357.2_Nonsense_Mutation_p.Q296*|PLAG1_ENST00000423799.2_Nonsense_Mutation_p.Q214* NM_001114634.1|NM_002655.2 NP_001108106.1|NP_002646.2 Q6DJT9 PLAG1_HUMAN pleiomorphic adenoma gene 1 296 Activates transcription; Inhibition of nuclear import due to lack of NLS and KPNA2 interaction.|Repression domain; contains 3 sumoylation motifs and massively decrease transcription activity. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding CTNNB1/PLAG1(60)|LIFR_ENST00000263409/PLAG1(10)|HAS2/PLAG1(10)|FGFR1_ENST00000447712/PLAG1(28)|COL1A2/PLAG1(3)|CHCHD7/PLAG1(12)|TCEA1_ENST00000521604/PLAG1(3) breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(7)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 28 all_lung(136;0.0548)|Lung NSC(129;0.0718)|all_epithelial(80;0.125) Epithelial(17;0.00179)|all cancers(17;0.0125) TGCATGGACTGAAATGGAGTG 0.453000 T """TCEA1, LIFR, CTNNB1, CHCHD7""" salivary adenoma 91 163 0 0 1 0 0 TRBC2 28638 broad.mit.edu 37 7 142498994 142498994 + RNA SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:142498994C>T ENST00000466254.1 + 0 270 GCAGAACCCCCGCAACCACTT 0.627000 34 201 0 0 1 0 0 DNM1P47 100216544 broad.mit.edu 37 15 102312073 102312073 + RNA SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr15:102312073G>A ENST00000561463.1 + 0 13441 AAAGATCTTTGGAGAGAAGGA 0.597000 36 137 0 0 1 0 0 DNAH10 196385 broad.mit.edu 37 12 124325969 124325969 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:124325969G>A ENST00000409039.3 + 29 4908 c.4883G>A c.(4882-4884)cGg>cAg p.R1628Q NM_207437.3 NP_997320.2 Q8IVF4 DYH10_HUMAN dynein, axonemal, heavy chain 10 1628 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 52 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346) ATGGAGTTTCGGAAGATCTTG 0.453000 6 214 0 0 1 0 0 KSR1 8844 broad.mit.edu 37 17 25909818 25909818 + Nonsense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:25909818C>T ENST00000398988.3 + 5 701 c.256C>T c.(256-258)Cag>Tag p.Q86* KSR1_ENST00000319524.6_Nonsense_Mutation_p.Q223*|KSR1_ENST00000509603.2_Nonsense_Mutation_p.Q223*|KSR1_ENST00000268763.6_Nonsense_Mutation_p.Q86* NM_014238.1 NP_055053.1 Q8IVT5 KSR1_HUMAN kinase suppressor of ras 1 221 Ras protein signal transduction cytoplasm|membrane ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1) 28 Lung NSC(42;0.00836) BRCA - Breast invasive adenocarcinoma(3;0.00122) UCEC - Uterine corpus endometrioid carcinoma (53;0.168) CAACAGCGCCCAGGGCCCACG 0.687000 15 34 0 0 1 0 0 GCNT3 9245 broad.mit.edu 37 15 59911037 59911037 + Missense_Mutation SNP G G T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr15:59911037G>T ENST00000396065.1 + 3 1048 c.600G>T c.(598-600)tgG>tgT p.W200C GCNT3_ENST00000560585.1_Missense_Mutation_p.W200C NM_004751.2 NP_004742.1 O95395 GCNT3_HUMAN glucosaminyl (N-acetyl) transferase 3, mucin type 200 protein O-linked glycosylation Golgi membrane|integral to membrane|membrane fraction beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity|N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 ATGCCTCCTGGTCCAGGGTGC 0.483000 68 116 3.33906e-19 3.3714e-19 1 1 0 OCRL 4952 broad.mit.edu 37 X 128692637 128692637 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chrX:128692637C>T ENST00000371113.4 + 7 632 c.467C>T c.(466-468)tCt>tTt p.S156F OCRL_ENST00000357121.5_Missense_Mutation_p.S156F|OCRL_ENST00000486673.1_3'UTR NM_000276.3 NP_000267.2 Q01968 OCRL_HUMAN oculocerebrorenal syndrome of Lowe 156 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction clathrin-coated vesicle|cytosol|early endosome|Golgi stack|Golgi-associated vesicle GTPase activator activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding breast(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(24)|ovary(2)|upper_aerodigestive_tract(3) 48 GACAATTTTTCTTCTATGAAT 0.403000 6 63 0 0 1 0 0 PTH1R 5745 broad.mit.edu 37 3 46939377 46939377 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:46939377C>T ENST00000449590.1 + 6 549 c.346C>T c.(346-348)Ctg>Ttg p.L116L PTH1R_ENST00000418619.1_Silent_p.L116L|PTH1R_ENST00000313049.5_Silent_p.L116L|PTH1R_ENST00000490109.1_3'UTR|PTH1R_ENST00000430002.2_Silent_p.L116L NM_000316.2 NP_000307.1 Q03431 PTH1R_HUMAN parathyroid hormone 1 receptor 116 cytoplasm|integral to plasma membrane|nucleus parathyroid hormone receptor activity|peptide hormone binding|protein self-association breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(5)|skin(2)|stomach(1)|urinary_tract(2) 19 GGACCACATCCTGTGCTGGCC 0.597000 18 49 0 0 1 0 0 BTBD16 118663 broad.mit.edu 37 10 124096155 124096155 + Silent SNP C C T rs149843204 TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:124096155C>T ENST00000368994.2 + 15 1664 c.1413C>T c.(1411-1413)atC>atT p.I471I BTBD16_ENST00000260723.4_Silent_p.I470I Q32M84 BTBDG_HUMAN BTB (POZ) domain containing 16 470 breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(3)|skin(2)|stomach(1)|urinary_tract(1) 15 all_neural(114;0.107)|Lung NSC(174;0.175)|all_lung(145;0.222)|Breast(234;0.238) CAAACCAGATCAAGCAGAAGT 0.517000 31 60 0 0 1 0 0 KIF2B 84643 broad.mit.edu 37 17 51902102 51902102 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:51902102G>A ENST00000268919.4 + 1 1864 c.1708G>A c.(1708-1710)Gga>Aga p.G570R NM_032559.4 NP_115948.4 Q8N4N8 KIF2B_HUMAN kinesin family member 2B 570 blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle ATP binding|microtubule motor activity p.G570R(1) NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 104 AAGTCACATCGGAAATTCAGA 0.393000 43 79 0 0 1 0 0 CYP4V2 285440 broad.mit.edu 37 4 187118743 187118743 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:187118743C>T ENST00000378802.4 + 5 965 c.661C>T c.(661-663)Cgt>Tgt p.R221C NM_207352.3 NP_997235.3 Q6ZWL3 CP4V2_HUMAN cytochrome P450, family 4, subfamily V, polypeptide 2 221 response to stimulus|visual perception endoplasmic reticulum membrane|integral to membrane electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(1)|stomach(2) 20 all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243) OV - Ovarian serous cystadenocarcinoma(60;1.33e-10)|BRCA - Breast invasive adenocarcinoma(30;3.84e-05)|GBM - Glioblastoma multiforme(59;0.000132)|STAD - Stomach adenocarcinoma(60;0.000293)|LUSC - Lung squamous cell carcinoma(40;0.00242)|READ - Rectum adenocarcinoma(43;0.17) CGAGTATGTCCGTGCAGTTTA 0.333000 33 69 0 0 1 0 0 SYT10 341359 broad.mit.edu 37 12 33559951 33559951 + Nonsense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:33559951G>A ENST00000228567.3 - 3 1146 c.850C>T c.(850-852)Cag>Tag p.Q284* SYT10_ENST00000535526.1_Nonsense_Mutation_p.Q103* NM_198992.3 NP_945343.1 Q6XYQ8 SYT10_HUMAN synaptotagmin X 284 C2 1. cell junction|integral to membrane|synaptic vesicle membrane metal ion binding|transporter activity NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1) 42 Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334) ACGCGGGTCTGAAATTTCTTT 0.358000 26 70 0 0 1 0 0 PLA2G3 50487 broad.mit.edu 37 22 31532707 31532707 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr22:31532707G>A ENST00000215885.3 - 6 1530 c.1278C>T c.(1276-1278)ttC>ttT p.F426F NM_015715.3 NP_056530.2 Q9NZ20 PA2G3_HUMAN phospholipase A2, group III 426 cilium morphogenesis|lipid catabolic process|phospholipid metabolic process centriole|extracellular space|plasma membrane calcium ion binding|calcium-dependent phospholipase A2 activity large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1) 18 GGGCCAGCTTGAAGCAGGTTG 0.577000 5 267 0 0 1 0 0 SLC12A7 10723 broad.mit.edu 37 5 1065582 1065582 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:1065582G>A ENST00000264930.5 - 18 2296 c.2253C>T c.(2251-2253)tcC>tcT p.S751S NM_006598.2 NP_006589.2 Q9Y666 S12A7_HUMAN solute carrier family 12 (potassium/chloride transporter), member 7 751 potassium ion transport|sodium ion transport integral to plasma membrane potassium:chloride symporter activity breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2) 32 Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09) Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165) Potassium Chloride(DB00761) TGCTCATTAGGGACCGTATGT 0.652000 21 58 0 0 1 0 0 TMC7 79905 broad.mit.edu 37 16 19070744 19070744 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr16:19070744C>T ENST00000421369.3 + 15 2262 c.1704C>T c.(1702-1704)atC>atT p.I568I TMC7_ENST00000569532.1_Silent_p.I678I|TMC7_ENST00000304381.5_Silent_p.I678I NM_001160364.1 NP_001153836.1 Q7Z402 TMC7_HUMAN transmembrane channel-like 7 678 integral to membrane breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1) 28 GCAGCCTCATCATGTTTTACT 0.463000 65 158 0 0 1 0 0 CGNL1 84952 broad.mit.edu 37 15 57753914 57753914 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr15:57753914C>T ENST00000281282.5 + 8 2305 c.2227C>T c.(2227-2229)Ctg>Ttg p.L743L NM_001252335.1|NM_032866.4 NP_001239264.1|NP_116255.2 Q0VF96 CGNL1_HUMAN cingulin-like 1 743 myosin complex|tight junction motor activity autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1) 60 all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186) TCAAGATCTGCTGATTGCCAA 0.493000 47 120 0 0 1 0 0 DNAH3 55567 broad.mit.edu 37 16 21008626 21008626 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr16:21008626C>T ENST00000261383.3 - 44 6579 c.6580G>A c.(6580-6582)Gga>Aga p.G2194R DNAH3_ENST00000415178.1_3'UTR NM_017539.1 NP_060009.1 Q8TD57 DYH3_HUMAN dynein, axonemal, heavy chain 3 2194 AAA 3 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6) 202 GBM - Glioblastoma multiforme(48;0.207) TTCCTTCCTCCCCCGGGGGGC 0.542000 7 140 0 0 1 0 0 WNT2 7472 broad.mit.edu 37 7 116937765 116937765 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:116937765C>T ENST00000265441.3 - 4 1053 c.754G>A c.(754-756)Ggt>Agt p.G252S NM_003391.2 NP_003382.1 P09544 WNT2_HUMAN wingless-type MMTV integration site family member 2 252 atrial cardiac muscle tissue morphogenesis|canonical Wnt receptor signaling pathway|cardiac epithelial to mesenchymal transition|cellular response to retinoic acid|cellular response to transforming growth factor beta stimulus|dorsal/ventral axis specification|iris morphogenesis|labyrinthine layer blood vessel development|lens development in camera-type eye|lung induction|mammary gland epithelium development|neuron differentiation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of fibroblast proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|Wnt receptor signaling pathway, calcium modulating pathway cytoplasm|extracellular space|proteinaceous extracellular matrix cytokine activity|frizzled binding|frizzled-2 binding|signal transducer activity breast(2)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|ovary(3)|prostate(1)|skin(2) 31 all_epithelial(6;2.24e-06)|Lung NSC(10;0.000936)|all_lung(10;0.00109) STAD - Stomach adenocarcinoma(10;0.000512) LUSC - Lung squamous cell carcinoma(290;0.133) ACAGTGAAACCTGTGCCATCC 0.512000 69 128 0 0 1 0 0 NXPH2 11249 broad.mit.edu 37 2 139428713 139428713 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:139428713C>T ENST00000272641.3 - 2 680 c.574G>A c.(574-576)Gaa>Aaa p.E192K NM_007226.2 NP_009157.1 O95156 NXPH2_HUMAN neurexophilin 2 192 V (Cys-rich). neuropeptide signaling pathway extracellular region endometrium(1)|large_intestine(3)|lung(6)|ovary(3)|prostate(3)|skin(3)|urinary_tract(3) 22 BRCA - Breast invasive adenocarcinoma(221;0.101) TCTGTTTTTTCATACTCAATG 0.493000 10 24 0 0 1 0 0 KIR2DL1 3802 broad.mit.edu 37 19 55285060 55285060 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:55285060G>A ENST00000336077.6 + 3 386 c.346G>A c.(346-348)Gac>Aac p.D116N CTB-61M7.1_ENST00000400864.3_RNA|KIR2DL4_ENST00000396284.2_Intron|KIR2DL3_ENST00000434419.2_Intron|KIR3DL1_ENST00000402254.2_Intron|KIR3DL1_ENST00000538269.1_Intron|KIR3DL1_ENST00000541392.1_Intron|KIR2DL1_ENST00000291633.7_Missense_Mutation_p.D116N NM_014218.2 NP_055033.2 P43626 KI2L1_HUMAN killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1 116 immune response|natural killer cell inhibitory signaling pathway integral to plasma membrane protein binding|receptor activity breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1) 17 GBM - Glioblastoma multiforme(193;0.0192) AGCTCCCAGTGACCCTCTGGA 0.527000 162 321 0 0 1 0 0 ARMC4 55130 broad.mit.edu 37 10 28260242 28260242 + Splice_Site SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:28260242C>T ENST00000305242.5 - 8 1029 c.936_splice c.e8-1 p.G313_splice ARMC4_ENST00000239715.3_Splice_Site_p.G170_splice|ARMC4_ENST00000480504.1_5'UTR|ARMC4_ENST00000537576.1_Splice_Site_p.G5_splice|ARMC4_ENST00000545014.1_Intron NM_018076.2 NP_060546.2 Q5T2S8 ARMC4_HUMAN armadillo repeat containing 4 313 binding NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3) 75 AAGCTAATTCCCTTTATTTAA 0.393000 5 53 0 0 1 0 0 SLC35D2 11046 broad.mit.edu 37 9 99126754 99126754 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:99126754G>A ENST00000253270.7 - 3 333 c.271C>T c.(271-273)Cct>Tct p.P91S SLC35D2_ENST00000375259.4_Missense_Mutation_p.P91S|SLC35D2_ENST00000482643.1_5'UTR|SLC35D2_ENST00000375257.1_Missense_Mutation_p.P91S NM_007001.2 NP_008932.2 Q76EJ3 S35D2_HUMAN solute carrier family 35 (UDP-GlcNAc/UDP-glucose transporter), member D2 91 Golgi membrane|integral to membrane nucleotide-sugar transmembrane transporter activity p.P91S(1) endometrium(3)|large_intestine(3)|lung(4)|skin(2) 12 Acute lymphoblastic leukemia(62;0.0167) ACCTTTACAGGAATTTTCTTA 0.338000 4 133 0 0 1 0 0 OR4D6 219983 broad.mit.edu 37 11 59224841 59224841 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:59224841G>A ENST00000300127.2 + 1 431 c.408G>A c.(406-408)atG>atA p.M136I NM_001004708.1 NP_001004708.1 Q8NGJ1 OR4D6_HUMAN olfactory receptor, family 4, subfamily D, member 6 136 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 34 TGACCATGATGAGGAAAGAGG 0.498000 66 150 0 0 1 0 0 C3orf22 152065 broad.mit.edu 37 3 126270860 126270860 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:126270860C>T ENST00000318225.2 - 3 573 c.195G>A c.(193-195)acG>acA p.T65T NM_152533.1 NP_689746.1 Q8N5N4 CC022_HUMAN chromosome 3 open reading frame 22 65 large_intestine(1)|lung(3)|ovary(2)|prostate(1) 7 GBM - Glioblastoma multiforme(114;0.147) GGATGGACCTCGTTGGCACCA 0.632000 7 90 0 0 1 0 0 ITGAM 3684 broad.mit.edu 37 16 31340585 31340585 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr16:31340585C>T ENST00000544665.3 + 24 2903 c.2832C>T c.(2830-2832)gcC>gcT p.A944A ITGAM_ENST00000287497.8_Silent_p.A943A NM_000632.3|NM_001145808.1 NP_000623.2|NP_001139280.1 P11215 ITAM_HUMAN integrin, alpha M (complement component 3 receptor 3 subunit) 943 blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration integrin complex glycoprotein binding|receptor activity endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1) 56 ACTTCACGGCCTCAGAGAATA 0.537000 11 27 0 0 1 0 0 CD33 945 broad.mit.edu 37 19 51728732 51728732 + Missense_Mutation SNP A A G TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:51728732A>G ENST00000262262.4 + 2 317 c.296A>G c.(295-297)aAc>aGc p.N99S CD33_ENST00000436584.2_Intron|CD33_ENST00000391796.3_Missense_Mutation_p.N99S|CD33_ENST00000421133.2_Intron NM_001772.3 NP_001763.3 P20138 CD33_HUMAN CD33 molecule 99 Ig-like V-type. cell adhesion|cell-cell signaling|negative regulation of cell proliferation external side of plasma membrane|integral to plasma membrane receptor activity|sugar binding NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(15)|skin(1)|stomach(1) 24 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.000224)|OV - Ovarian serous cystadenocarcinoma(262;0.00468) Gemtuzumab ozogamicin(DB00056) CCCAGTAGGAACAACTGCTCC 0.498000 42 100 0 0 1 0 0 MYH15 22989 broad.mit.edu 37 3 108160018 108160018 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:108160018C>T ENST00000273353.3 - 24 2861 c.2805G>A c.(2803-2805)tcG>tcA p.S935S NM_014981.1 NP_055796.1 Q9Y2K3 MYH15_HUMAN myosin, heavy chain 15 935 myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 105 CCACCCTCTCCGACAGCTCCT 0.493000 54 81 0 0 1 0 0 NRDE2 55051 broad.mit.edu 37 14 90764716 90764716 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr14:90764716G>A ENST00000354366.3 - 8 1786 c.1554C>T c.(1552-1554)ttC>ttT p.F518F NRDE2_ENST00000357904.3_Silent_p.F287F NM_017970.3 NP_060440.2 NRDE-2, necessary for RNA interference, domain containing AGGGTTCAAAGAATTCCACCT 0.542000 25 69 0 0 1 0 0 NT5C1A 84618 broad.mit.edu 37 1 40125037 40125037 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:40125037G>A ENST00000235628.1 - 6 862 c.863C>T c.(862-864)tCc>tTc p.S288F NM_032526.1 NP_115915.1 Q9BXI3 5NT1A_HUMAN 5'-nucleotidase, cytosolic IA 288 purine base metabolic process|purine nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process cytosol 5'-nucleotidase activity|magnesium ion binding|nucleotide binding breast(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(2) 15 Lung NSC(20;3.81e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0393) OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;4.3e-17)|all cancers(16;8.48e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457) CCGGGCCCCGGAACTGGCTGC 0.607000 47 112 0 0 1 0 0 AKAP4 8852 broad.mit.edu 37 X 49958587 49958587 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chrX:49958587C>T ENST00000376056.2 - 5 900 c.750G>A c.(748-750)gaG>gaA p.E250E AKAP4_ENST00000358526.2_Silent_p.E259E|AKAP4_ENST00000376058.2_Intron|AKAP4_ENST00000376064.3_Silent_p.E250E|AKAP4_ENST00000481402.1_5'UTR Q5JQC9 AKAP4_HUMAN A kinase (PRKA) anchor protein 4 259 cell projection organization|single fertilization|sperm motility cAMP-dependent protein kinase complex|cilium|cytoskeleton|microtubule-based flagellum protein kinase A binding NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(6)|lung(14)|ovary(1)|skin(4) 41 Ovarian(276;0.236) GACTGATTCTCTCTTTGTTCC 0.483000 14 56 0 0 1 0 0 ABCA3 21 broad.mit.edu 37 16 2376079 2376079 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr16:2376079G>A ENST00000301732.5 - 5 951 c.251C>T c.(250-252)cCt>cTt p.P84L ABCA3_ENST00000567910.1_Missense_Mutation_p.P84L|ABCA3_ENST00000382381.3_Missense_Mutation_p.P84L NM_001089.2 NP_001080.2 Q99758 ABCA3_HUMAN ATP-binding cassette, sub-family A (ABC1), member 3 84 response to drug integral to membrane|lamellar body|membrane fraction|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1) 70 Ovarian(90;0.17) ACTGTGAGAAGGGATGTAGGC 0.622000 23 61 0 0 1 0 0 ST6GAL2 84620 broad.mit.edu 37 2 107459798 107459798 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:107459798G>A ENST00000409382.3 - 2 1246 c.636C>T c.(634-636)gtC>gtT p.V212V ST6GAL2_ENST00000409087.3_Silent_p.V212V|ST6GAL2_ENST00000361686.4_Silent_p.V212V NM_001142351.1 NP_001135823.1 Q96JF0 SIAT2_HUMAN ST6 beta-galactosamide alpha-2,6-sialyltranferase 2 212 growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation Golgi cisterna membrane|integral to Golgi membrane beta-galactoside alpha-2,6-sialyltransferase activity autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 65 TTTTGGAAGAGACGTTCCCCT 0.642000 25 48 0 0 1 0 0 SIPA1L3 23094 broad.mit.edu 37 19 38572698 38572698 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:38572698C>T ENST00000222345.6 + 3 1002 c.493C>T c.(493-495)Ccc>Tcc p.P165S NM_015073.1 NP_055888.1 O60292 SI1L3_HUMAN signal-induced proliferation-associated 1 like 3 165 regulation of small GTPase mediated signal transduction intracellular GTPase activator activity NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3) 59 Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292) GGCCTTCCTCCCCCTTCGGCA 0.711000 7 124 0 0 1 0 0 NPSR1 387129 broad.mit.edu 37 7 34867060 34867060 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:34867060C>T ENST00000360581.1 + 5 654 c.526C>T c.(526-528)Ctg>Ttg p.L176L NPSR1_ENST00000381539.3_Silent_p.L176L|NPSR1_ENST00000359791.1_Silent_p.L176L|NPSR1_ENST00000381542.1_Silent_p.L110L|NPSR1_ENST00000531252.1_Silent_p.L165L NM_207172.1 NP_997055.1 Q6W5P4 NPSR1_HUMAN neuropeptide S receptor 1 176 cytoplasm|integral to membrane|plasma membrane vasopressin receptor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(7) 31 Halothane(DB01159) CCTGTCTTTTCTGTTCTCCAT 0.532000 28 63 0 0 1 0 0 PUM1 9698 broad.mit.edu 37 1 31452973 31452973 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:31452973G>A ENST00000373747.3 - 9 1392 c.1293C>T c.(1291-1293)atC>atT p.I431I PUM1_ENST00000257075.5_Silent_p.I430I|PUM1_ENST00000373742.2_Silent_p.I371I|PUM1_ENST00000423018.2_Silent_p.I334I|PUM1_ENST00000440538.2_Silent_p.I431I|PUM1_ENST00000426105.2_Silent_p.I430I|PUM1_ENST00000373741.4_Silent_p.I466I|PUM1_ENST00000490546.1_5'UTR|PUM1_ENST00000424085.2_Silent_p.I188I NM_001020658.1 NP_001018494.1 Q14671 PUM1_HUMAN pumilio RNA-binding family member 1 430 Ala-rich. cellular membrane organization|post-Golgi vesicle-mediated transport|regulation of translation cytosol RNA binding breast(1)|central_nervous_system(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(17)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 48 Colorectal(325;0.0211)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0381)|Breast(348;0.0848)|Medulloblastoma(700;0.123) STAD - Stomach adenocarcinoma(196;0.0232)|READ - Rectum adenocarcinoma(331;0.0681) CAGCGCTGATGATGTATGGAT 0.507000 20 30 0 0 1 0 0 PANX3 116337 broad.mit.edu 37 11 124489406 124489406 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:124489406G>A ENST00000284288.2 + 4 821 c.754G>A c.(754-756)Gag>Aag p.E252K NM_052959.2 NP_443191.1 Q96QZ0 PANX3_HUMAN pannexin 3 252 protein hexamerization gap junction|integral to membrane gap junction hemi-channel activity|ion channel activity NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|urinary_tract(1) 26 all_hematologic(175;0.215) Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0219) GCTAAGTGATGAGACCCATGT 0.473000 22 27 0 0 1 0 0 KRT6A 3853 broad.mit.edu 37 12 52882272 52882272 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:52882272C>T ENST00000330722.6 - 7 1332 c.1264G>A c.(1264-1266)Gat>Aat p.D422N NM_005554.3 NP_005545.1 P02538 K2C6A_HUMAN keratin 6A 422 Coil 2.|Rod. cell differentiation|ectoderm development|positive regulation of cell proliferation keratin filament protein binding|structural constituent of cytoskeleton breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 39 BRCA - Breast invasive adenocarcinoma(357;0.189) TTCTTGGCATCCTTGAGGGCC 0.577000 7 194 0 0 1 0 0 C15orf41 84529 broad.mit.edu 37 15 37001446 37001446 + Missense_Mutation SNP G G T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr15:37001446G>T ENST00000566621.1 + 9 817 c.567G>T c.(565-567)aaG>aaT p.K189N C15orf41_ENST00000567389.1_Missense_Mutation_p.K91N|C15orf41_ENST00000562877.1_Missense_Mutation_p.K91N|C15orf41_ENST00000569302.1_Missense_Mutation_p.K189N|C15orf41_ENST00000565792.1_3'UTR|C15orf41_ENST00000562489.1_Missense_Mutation_p.K13N|C15orf41_ENST00000437989.2_Missense_Mutation_p.K189N|C15orf41_ENST00000338183.4_Missense_Mutation_p.K91N NM_001130010.1 NP_001123482.1 Q9Y2V0 CO041_HUMAN chromosome 15 open reading frame 41 189 protein binding kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1) 12 all_epithelial(112;3.06e-10)|Lung NSC(122;6.48e-08)|all_lung(180;8.31e-07)|Melanoma(134;0.222) all cancers(64;1.76e-19)|GBM - Glioblastoma multiforme(113;5.03e-07)|BRCA - Breast invasive adenocarcinoma(123;0.11) TTCGTGCAAAGGGTTATGACA 0.294000 10 28 2.80697e-09 2.82207e-09 1 1 0 TBC1D8 11138 broad.mit.edu 37 2 101654027 101654027 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:101654027C>T ENST00000409318.1 - 8 1549 c.1419G>A c.(1417-1419)caG>caA p.Q473Q TBC1D8_ENST00000376840.4_Silent_p.Q458Q NM_001102426.1 NP_001095896.1 O95759 TBCD8_HUMAN TBC1 domain family, member 8 (with GRAM domain) 458 blood circulation|positive regulation of cell proliferation intracellular|membrane calcium ion binding|Rab GTPase activator activity breast(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(12)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1) 32 TGCCTGACTGCTGGAAGGCGG 0.597000 4 122 0 0 1 0 0 METTL16 79066 broad.mit.edu 37 17 2381069 2381069 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:2381069G>A ENST00000263092.5 - 3 366 c.239C>T c.(238-240)cCc>cTc p.P80L METTL16_ENST00000538844.1_5'UTR|METTL16_ENST00000571669.1_5'UTR NM_024086.3 NP_076991.3 Q86W50 MET16_HUMAN methyltransferase like 16 80 methyltransferase activity kidney(2)|large_intestine(9)|lung(4)|ovary(2)|skin(1)|urinary_tract(1) 19 GAGTCTCAAGGGAACTGTGGG 0.423000 69 125 0 0 1 0 0 CNOT8 9337 broad.mit.edu 37 5 154244797 154244797 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:154244797C>T ENST00000517876.1 + 4 639 c.163C>T c.(163-165)Cgt>Tgt p.R55C CNOT8_ENST00000519404.1_Missense_Mutation_p.R55C|CNOT8_ENST00000403027.2_Missense_Mutation_p.R55C|CNOT8_ENST00000521402.1_3'UTR|CNOT8_ENST00000285896.6_Missense_Mutation_p.R55C|CNOT8_ENST00000521450.1_Intron|CNOT8_ENST00000520671.1_5'UTR|CNOT8_ENST00000523698.1_Intron|CNOT8_ENST00000524105.1_5'UTR|CNOT8_ENST00000521583.1_5'UTR Q9UFF9 CNOT8_HUMAN CCR4-NOT transcription complex, subunit 8 55 negative regulation of cell proliferation|nuclear-transcribed mRNA poly(A) tail shortening cytosol|nucleus nucleic acid binding|protein binding|sequence-specific DNA binding transcription factor activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(2)|skin(1)|upper_aerodigestive_tract(1) 10 Renal(175;0.00488) Medulloblastoma(196;0.0523) KIRC - Kidney renal clear cell carcinoma(527;0.00112) TGGTGAATTTCGTAGTTCCAT 0.413000 5 223 0 0 1 0 0 BARD1 580 broad.mit.edu 37 2 215633991 215633991 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:215633991G>A ENST00000260947.4 - 5 1494 c.1360C>T c.(1360-1362)Cca>Tca p.P454S BARD1_ENST00000449967.2_Missense_Mutation_p.P310S NM_000465.2 NP_000456.2 Q99728 BARD1_HUMAN BRCA1 associated RING domain 1 454 cell cycle arrest|DNA repair|negative regulation of apoptosis|negative regulation of mRNA 3'-end processing|negative regulation of protein export from nucleus|positive regulation of apoptosis|positive regulation of protein catabolic process|protein K6-linked ubiquitination|regulation of phosphorylation|tissue homeostasis BRCA1-A complex|BRCA1-BARD1 complex|cytoplasm kinase binding|protein heterodimerization activity|protein homodimerization activity|RNA binding|ubiquitin-protein ligase activity|zinc ion binding NS(2)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|prostate(4)|upper_aerodigestive_tract(1) 35 Renal(323;0.0243) Epithelial(149;3.2e-06)|all cancers(144;0.000461)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011) TTAACATTTGGATCACTTCCA 0.323000 Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome 18 51 0 0 1 0 0 GLIS3 169792 broad.mit.edu 37 9 3829399 3829399 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:3829399G>A ENST00000324333.10 - 9 2295 c.2102C>T c.(2101-2103)tCg>tTg p.S701L GLIS3_ENST00000381971.3_Missense_Mutation_p.S856L|GLIS3_ENST00000461870.1_5'UTR NM_152629.3 NP_689842.3 Q8NEA6 GLIS3_HUMAN GLIS family zinc finger 3 701 negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter DNA binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(12)|lung(4)|ovary(2)|prostate(1)|skin(1) 26 Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148) Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148) GTCCTCAAACGAAGGCACCAC 0.537000 27 24 0 0 1 0 0 BAZ2A 11176 broad.mit.edu 37 12 57005823 57005823 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:57005823G>A ENST00000179765.5 - 7 1452 c.1253C>T c.(1252-1254)tCt>tTt p.S418F BAZ2A_ENST00000379441.3_Missense_Mutation_p.S420F|BAZ2A_ENST00000549884.1_Missense_Mutation_p.S448F|BAZ2A_ENST00000551812.1_Missense_Mutation_p.S450F Q9UIF9 BAZ2A_HUMAN bromodomain adjacent to zinc finger domain, 2A 450 chromatin silencing at rDNA|DNA methylation|transcription, DNA-dependent chromatin silencing complex|nucleolus|rDNA heterochromatin DNA binding|histone acetyl-lysine binding|ligand-dependent nuclear receptor binding|RNA binding|zinc ion binding breast(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(15)|urinary_tract(1) 31 AACTTCTGGAGAGATTTCTGG 0.542000 8 27 0 0 1 0 0 ADAM18 8749 broad.mit.edu 37 8 39467023 39467023 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:39467023G>A ENST00000265707.5 + 5 332 c.287G>A c.(286-288)gGa>gAa p.G96E ADAM18_ENST00000520772.1_Missense_Mutation_p.G96E|ADAM18_ENST00000541111.1_5'UTR|ADAM18_ENST00000379866.1_Missense_Mutation_p.G96E NM_014237.2 NP_055052.1 Q9Y3Q7 ADA18_HUMAN ADAM metallopeptidase domain 18 96 cell differentiation|multicellular organismal development|proteolysis|spermatogenesis integral to membrane|membrane fraction metalloendopeptidase activity|zinc ion binding NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3) 71 all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112) LUSC - Lung squamous cell carcinoma(45;0.000199) CATTACCAAGGATATGCTGCC 0.328000 26 52 0 0 1 0 0 MEIOB 254528 broad.mit.edu 37 16 1894899 1894899 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr16:1894899C>T ENST00000412554.2 - 10 1038 c.844G>A c.(844-846)Gat>Aat p.D282N MEIOB_ENST00000452149.2_Missense_Mutation_p.D282N|MEIOB_ENST00000325962.3_Missense_Mutation_p.D282N|MEIOB_ENST00000397344.3_Missense_Mutation_p.D282N|MEIOB_ENST00000470044.1_Missense_Mutation_p.D75N NM_001163560.2 NP_001157032.1 meiosis specific with OB domains TCAATTTCATCATCCAGAACA 0.289000 10 29 0 0 1 0 0 VAC14 55697 broad.mit.edu 37 16 70778477 70778477 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr16:70778477G>A ENST00000261776.5 - 13 1637 c.1377C>T c.(1375-1377)atC>atT p.I459I NM_018052.3 NP_060522.3 Q08AM6 VAC14_HUMAN Vac14 homolog (S. cerevisiae) 459 interspecies interaction between organisms endoplasmic reticulum|endosome membrane|microsome protein binding|receptor activity breast(2)|endometrium(2)|kidney(10)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 33 Ovarian(137;0.0699) GGTCCTTCAGGATCACCTGGG 0.662000 4 42 0 0 1 0 0 KLRD1 3824 broad.mit.edu 37 12 10462245 10462245 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:10462245G>A ENST00000381908.3 + 3 381 c.121G>A c.(121-123)Gag>Aag p.E41K KLRD1_ENST00000538997.1_3'UTR|KLRD1_ENST00000381907.4_Missense_Mutation_p.E41K|KLRD1_ENST00000543777.1_Intron|KLRD1_ENST00000543420.1_Missense_Mutation_p.E41K|KLRD1_ENST00000350274.5_Missense_Mutation_p.E10K|KLRD1_ENST00000336164.4_Missense_Mutation_p.E41K Q13241 KLRD1_HUMAN killer cell lectin-like receptor subfamily D, member 1 41 cell surface receptor linked signaling pathway|regulation of immune response integral to membrane|plasma membrane sugar binding|transmembrane receptor activity p.E41K(1) endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(2) 10 ACTGAGTATTGAGCCAGCATT 0.313000 20 24 0 0 1 0 0 FGA 2243 broad.mit.edu 37 4 155507350 155507350 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:155507350C>T ENST00000302053.3 - 5 1309 c.1231G>A c.(1231-1233)Ggc>Agc p.G411S FGA_ENST00000403106.3_Missense_Mutation_p.G411S NM_000508.3 NP_000499.1 P02671 FIBA_HUMAN fibrinogen alpha chain 411 platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen eukaryotic cell surface binding|protein binding, bridging|receptor binding NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6) 73 all_hematologic(180;0.215) Renal(120;0.0458) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031) TCAAATGTGCCCCAGTCTGGG 0.493000 65 140 0 0 1 0 0 OXGR1 27199 broad.mit.edu 37 13 97639386 97639386 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr13:97639386G>A ENST00000298440.1 - 4 871 c.628C>T c.(628-630)Ccc>Tcc p.P210S OXGR1_ENST00000543457.1_Missense_Mutation_p.P210S NM_080818.3 NP_543008.3 Q96P68 OXGR1_HUMAN oxoglutarate (alpha-ketoglutarate) receptor 1 210 integral to membrane|plasma membrane purinergic nucleotide receptor activity, G-protein coupled NS(1)|large_intestine(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 15 all_neural(89;0.0982)|Medulloblastoma(90;0.163) BRCA - Breast invasive adenocarcinoma(86;0.186) ATCACCAAGGGGAGGCAGAAA 0.473000 42 70 0 0 1 0 0 KIF6 221458 broad.mit.edu 37 6 39602722 39602722 + Missense_Mutation SNP T T A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:39602722T>A ENST00000287152.7 - 5 506 c.412A>T c.(412-414)Ata>Tta p.I138L KIF6_ENST00000373215.3_Missense_Mutation_p.I138L|KIF6_ENST00000373216.3_Missense_Mutation_p.I138L|KIF6_ENST00000538893.1_Missense_Mutation_p.I138L NM_145027.4 NP_659464.3 Q6ZMV9 KIF6_HUMAN kinesin family member 6 138 Kinesin-motor. microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity|protein binding breast(2)|central_nervous_system(1)|endometrium(1)|kidney(16)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 52 GTTGTATATATTTTGCTGCTG 0.363000 25 115 0 0 1 0 0 CAPN9 10753 broad.mit.edu 37 1 230923295 230923295 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:230923295G>A ENST00000354537.1 + 12 1550 c.1468G>A c.(1468-1470)Gag>Aag p.E490K CAPN9_ENST00000271971.2_Missense_Mutation_p.E516K|RP11-99J16__A.2_ENST00000452640.1_RNA|CAPN9_ENST00000366666.2_Missense_Mutation_p.E453K|RP11-99J16__A.2_ENST00000428480.1_RNA|RP11-99J16__A.2_ENST00000412344.1_RNA NM_016452.1 NP_057536.1 O14815 CAN9_HUMAN calpain 9 516 Domain III. digestion|proteolysis intracellular calcium ion binding|calcium-dependent cysteine-type endopeptidase activity autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 25 Breast(184;0.0871)|Ovarian(103;0.183) Prostate(94;0.167) ACCTGACCAGGAGACAGAGGA 0.498000 14 131 0 0 1 0 0 PTPRZ1 5803 broad.mit.edu 37 7 121653887 121653887 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:121653887C>T ENST00000393386.2 + 12 5198 c.4787C>T c.(4786-4788)tCc>tTc p.S1596F PTPRZ1_ENST00000449182.1_Intron NM_001206838.1|NM_002851.2 NP_001193767.1|NP_002842.2 P23471 PTPRZ_HUMAN protein tyrosine phosphatase, receptor-type, Z polypeptide 1 1596 central nervous system development integral to plasma membrane protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2) 106 TTCCCACAGTCCCCAACATCA 0.468000 7 293 0 0 1 0 0 CTCFL 140690 broad.mit.edu 37 20 56078626 56078626 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr20:56078626C>T ENST00000429804.2 - 9 2116 c.1556G>A c.(1555-1557)gGa>gAa p.G519E CTCFL_ENST00000502686.2_Missense_Mutation_p.G307E|CTCFL_ENST00000243914.3_Missense_Mutation_p.G569E|CTCFL_ENST00000433949.2_Missense_Mutation_p.G569E|CTCFL_ENST00000422109.2_3'UTR|CTCFL_ENST00000426658.2_3'UTR|CTCFL_ENST00000423479.2_Missense_Mutation_p.G569E|CTCFL_ENST00000371196.2_Missense_Mutation_p.G569E NM_001269046.1 NP_001255975.1 Q8NI51 CTCFL_HUMAN CCCTC-binding factor (zinc finger protein)-like 569 cell cycle|DNA methylation involved in gamete generation|histone methylation|positive regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|regulation of histone H3-K4 methylation|transcription, DNA-dependent cytoplasm|nucleus histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242) BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07) TTCCCCTGATCCACACTTCTC 0.527000 48 104 0 0 1 0 0 CEP170B 283638 broad.mit.edu 37 14 105349666 105349666 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr14:105349666C>T ENST00000453495.1 + 8 1103 c.875C>T c.(874-876)tCc>tTc p.S292F CEP170B_ENST00000414716.3_Missense_Mutation_p.S291F|CEP170B_ENST00000418279.1_Missense_Mutation_p.S221F|CEP170B_ENST00000556508.1_Missense_Mutation_p.S221F centrosomal protein 170B ACCAAGTTTTCCCTGCGCCAG 0.632000 10 29 0 0 1 0 0 CLMN 79789 broad.mit.edu 37 14 95662948 95662948 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr14:95662948C>T ENST00000298912.4 - 10 2708 c.2595G>A c.(2593-2595)aaG>aaA p.K865K NM_024734.3 NP_079010.2 Q96JQ2 CLMN_HUMAN calmin (calponin-like, transmembrane) 865 integral to membrane actin binding central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(17)|prostate(3)|skin(3) 44 Epithelial(152;0.193) TCCTTTTTTCCTTTTTTTTAC 0.403000 25 74 0 0 1 0 0 FXR2 9513 broad.mit.edu 37 17 7499219 7499219 + Nonsense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:7499219G>A ENST00000250113.7 - 8 1088 c.754C>T c.(754-756)Cag>Tag p.Q252* NM_004860.3 NP_004851.2 P51116 FXR2_HUMAN fragile X mental retardation, autosomal homolog 2 252 KH 1. cytosolic large ribosomal subunit protein binding|RNA binding NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(8)|prostate(1) 26 READ - Rectum adenocarcinoma(115;0.17) CGGGCCTGCTGGATGTTGGCA 0.547000 61 104 0 0 1 0 0 FRYL 285527 broad.mit.edu 37 4 48517148 48517148 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:48517148C>T ENST00000358350.4 - 56 8438 c.7834G>A c.(7834-7836)Gaa>Aaa p.E2612K FRYL_ENST00000507873.2_Missense_Mutation_p.E8K|FRYL_ENST00000503238.1_Missense_Mutation_p.E2612K|FRYL_ENST00000264319.7_Missense_Mutation_p.E8K|FRYL_ENST00000537810.1_Missense_Mutation_p.E2612K NM_015030.1 NP_055845.1 O94915 FRYL_HUMAN FRY-like 2612 regulation of transcription, DNA-dependent|transcription, DNA-dependent protein binding p.E2612K(1) breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 91 GGGTAACTTTCAGGAGCTAGA 0.423000 55 124 0 0 1 0 0 DDX59 83479 broad.mit.edu 37 1 200635532 200635532 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:200635532G>A ENST00000447706.2 - 2 488 c.337C>T c.(337-339)Cgt>Tgt p.R113C DDX59_ENST00000367348.3_Missense_Mutation_p.R113C|DDX59_ENST00000331314.6_Missense_Mutation_p.R113C Q5T1V6 DDX59_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 59 113 intracellular ATP binding|ATP-dependent helicase activity|metal ion binding|RNA binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|liver(1)|lung(9)|ovary(3) 21 TCTCCATAACGACCACAGACA 0.453000 61 76 0 0 1 0 0 ANKFN1 162282 broad.mit.edu 37 17 54450050 54450050 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:54450050C>T ENST00000566473.2 + 6 654 c.654C>T c.(652-654)gtC>gtT p.V218V ANKFN1_ENST00000318698.2_Silent_p.V218V Q8N957 ANKF1_HUMAN ankyrin-repeat and fibronectin type III domain containing 1 218 NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1) 53 ACACACTGGTCCAGGAAGCCC 0.493000 52 173 0 0 1 0 0 DNAH9 1770 broad.mit.edu 37 17 11536022 11536022 + Splice_Site SNP T T C TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:11536022T>C ENST00000262442.3 + 8 1703 c.e8+2 DNAH9_ENST00000454412.2_Splice_Site NM_001372.3 NP_001363.2 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4) 290 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) GCCTTTAAGGTTTGTGTAAAT 0.468000 47 79 0 0 1 0 0 OR13D1 286365 broad.mit.edu 37 9 107457023 107457023 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:107457023C>T ENST00000318763.5 + 1 364 c.321C>T c.(319-321)tcC>tcT p.S107S NM_001004484.1 NP_001004484.1 Q8NGV5 O13D1_HUMAN olfactory receptor, family 13, subfamily D, member 1 107 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(4)|lung(10)|ovary(1)|prostate(2)|skin(2) 19 GTTACACATCCTCATCCATTC 0.433000 119 241 0 0 1 0 0 PLEKHM1 9842 broad.mit.edu 37 17 43552601 43552601 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:43552601G>A ENST00000430334.3 - 4 921 c.788C>T c.(787-789)tCc>tTc p.S263F PLEKHM1_ENST00000421073.2_Missense_Mutation_p.S174F NM_014798.2 NP_055613.1 Q9Y4G2 PKHM1_HUMAN pleckstrin homology domain containing, family M (with RUN domain) member 1 263 intracellular signal transduction cytoplasm metal ion binding breast(1)|central_nervous_system(1)|endometrium(6)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 26 Renal(3;0.0405) TAGGCTGCAGGACAGCTGGGA 0.557000 8 60 0 0 1 0 0 TONSL 4796 broad.mit.edu 37 8 145666421 145666421 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:145666421G>A ENST00000409379.3 - 8 968 c.939C>T c.(937-939)atC>atT p.I313I NM_013432.4 NP_038460.4 Q96HA7 TONSL_HUMAN tonsoku-like, DNA repair protein 313 cytoplasmic sequestering of transcription factor|double-strand break repair via homologous recombination|replication fork processing cytoplasm|nuclear replication fork histone binding|transcription corepressor activity biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|lung(14)|ovary(3)|prostate(1)|skin(1) 26 GCTGCTCACAGATGACCATGG 0.637000 51 132 0 0 1 0 0 RAI1 10743 broad.mit.edu 37 17 17698335 17698335 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:17698335C>T ENST00000353383.1 + 3 2542 c.2073C>T c.(2071-2073)tcC>tcT p.S691S RAI1_ENST00000261641.6_Silent_p.S691S NM_030665.3 NP_109590.3 Q7Z5J4 RAI1_HUMAN retinoic acid induced 1 691 cytoplasm|nucleus zinc ion binding breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7) 48 READ - Rectum adenocarcinoma(1115;0.0276) AAGACCCTTCCGTGGCCTTCG 0.637000 30 93 0 0 1 0 0 C14orf93 60686 broad.mit.edu 37 14 23458974 23458974 + Missense_Mutation SNP T T A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr14:23458974T>A ENST00000299088.6 - 5 1490 c.1061A>T c.(1060-1062)aAt>aTt p.N354I C14orf93_ENST00000397377.1_Missense_Mutation_p.N174I|C14orf93_ENST00000341470.4_Missense_Mutation_p.N354I|C14orf93_ENST00000406429.2_Missense_Mutation_p.N354I|RP11-298I3.4_ENST00000557615.1_RNA|RP11-298I3.4_ENST00000556503.1_RNA|C14orf93_ENST00000397379.3_Missense_Mutation_p.N354I|RP11-298I3.4_ENST00000555294.1_RNA|C14orf93_ENST00000397382.4_Missense_Mutation_p.N354I NM_001130708.1|NM_021944.2 NP_001124180.1|NP_068763.2 Q9H972 CN093_HUMAN chromosome 14 open reading frame 93 354 extracellular region p.N354I(1) kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|urinary_tract(1) 17 all_cancers(95;3.3e-05) GBM - Glioblastoma multiforme(265;0.0127) ATCAGTGTAATTGTGGGGACT 0.453000 34 82 0 0 1 0 0 NDUFV3 4731 broad.mit.edu 37 21 44323879 44323879 + Nonsense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr21:44323879C>T ENST00000354250.2 + 3 826 c.757C>T c.(757-759)Caa>Taa p.Q253* NDUFV3_ENST00000460259.1_3'UTR|NDUFV3_ENST00000340344.3_Intron NM_021075.3 NP_066553.3 P56181 NDUV3_HUMAN NADH dehydrogenase (ubiquinone) flavoprotein 3, 10kDa 23 mitochondrial electron transport, NADH to ubiquinone|transport mitochondrial respiratory chain complex I|nucleus NADH dehydrogenase (ubiquinone) activity breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|skin(1) 10 STAD - Stomach adenocarcinoma(101;0.0606) NADH(DB00157) GCCCAGATCTCAAGTAGATGA 0.398000 25 243 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179604758 179604758 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:179604758C>T ENST00000589042.1 - 48 13426 c.13202G>A c.(13201-13203)cGg>cAg p.R4401Q TTN_ENST00000359218.5_Missense_Mutation_p.R4163Q|TTN_ENST00000591111.1_Missense_Mutation_p.R4084Q|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000460472.2_Missense_Mutation_p.R4038Q|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R4230Q NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 4084 Ig-like 24. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TTGCAAAGCCCGGCAGATTTG 0.478000 39 83 0 0 1 0 0 VPS4B 9525 broad.mit.edu 37 18 61089479 61089479 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr18:61089479G>A ENST00000238497.5 - 1 217 c.14C>T c.(13-15)tCg>tTg p.S5L VPS4B_ENST00000591519.1_Missense_Mutation_p.S5L NM_004869.3 NP_004860.2 O75351 VPS4B_HUMAN vacuolar protein sorting 4 homolog B (S. cerevisiae) 5 MIT. cell cycle|cell division|cellular membrane organization|endosome to lysosome transport via multivesicular body sorting pathway|intracellular cholesterol transport|protein transport|response to lipid cytosol|early endosome|late endosome membrane|lysosome|nucleus|vacuolar membrane ATP binding|ATPase activity, coupled|protein C-terminus binding breast(1)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(2) 13 GAGGTTGGGCGAAGTGGATGA 0.657000 7 22 0 0 1 0 0 ADNP 23394 broad.mit.edu 37 20 49508627 49508627 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr20:49508627G>A ENST00000396029.3 - 5 3191 c.2624C>T c.(2623-2625)tCc>tTc p.S875F ADNP_ENST00000371602.4_Missense_Mutation_p.S875F|ADNP_ENST00000349014.3_Missense_Mutation_p.S875F|ADNP_ENST00000396032.3_Missense_Mutation_p.S875F NM_015339.2 NP_056154.1 Q9H2P0 ADNP_HUMAN activity-dependent neuroprotector homeobox 875 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(4)|endometrium(7)|kidney(1)|large_intestine(13)|lung(7)|ovary(2)|prostate(2)|skin(2) 39 ACTGTCTGAGGAACTGTCATC 0.398000 60 138 0 0 1 0 0 FOLH1 2346 broad.mit.edu 37 11 49221976 49221976 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:49221976G>A ENST00000340334.7 - 4 565 c.197C>T c.(196-198)cCa>cTa p.P66L FOLH1_ENST00000256999.2_Missense_Mutation_p.P81L|FOLH1_ENST00000343844.4_Intron|FOLH1_ENST00000533034.1_Missense_Mutation_p.P66L|FOLH1_ENST00000356696.3_Missense_Mutation_p.P81L NM_001193471.1|NM_001193472.1 NP_001180400.1|NP_001180401.1 Q04609 FOLH1_HUMAN folate hydrolase (prostate-specific membrane antigen) 1 81 proteolysis cytoplasm|integral to plasma membrane|membrane fraction|nucleus carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 60 Capromab(DB00089)|L-Glutamic Acid(DB00142) TGCTAAATGTGGTATCTGTGT 0.333000 17 40 0 0 1 0 0 KERA 11081 broad.mit.edu 37 12 91449643 91449643 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:91449643G>A ENST00000266719.3 - 2 663 c.416C>T c.(415-417)cCa>cTa p.P139L NM_007035.3 NP_008966.1 O60938 KERA_HUMAN keratocan 139 response to stimulus|visual perception proteinaceous extracellular matrix breast(2)|large_intestine(8)|lung(5)|prostate(2)|skin(2) 19 TCTTGGCAATGGAGAAGGTAC 0.408000 48 131 0 0 1 0 0 SERPINA3 12 broad.mit.edu 37 14 95081084 95081084 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr14:95081084C>T ENST00000553947.1 + 5 1269 c.381C>T c.(379-381)ggC>ggT p.G127G SERPINA3_ENST00000393078.3_Silent_p.G102G|SERPINA3_ENST00000393080.4_Silent_p.G102G|SERPINA3_ENST00000467132.1_Silent_p.G102G|SERPINA3_ENST00000556388.1_Intron P01011 AACT_HUMAN serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3 102 acute-phase response|maintenance of gastrointestinal epithelium|regulation of lipid metabolic process|regulation of proteolysis extracellular region|nucleus DNA binding|protein binding|serine-type endopeptidase inhibitor activity NS(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(17)|ovary(2)|pancreas(1)|skin(3)|stomach(1) 40 all_cancers(154;0.0525)|all_epithelial(191;0.179) COAD - Colon adenocarcinoma(157;0.212)|Epithelial(152;0.228) TTCTCAAAGGCCTCAAGTTCA 0.542000 38 76 0 0 1 0 0 PLEKHH2 130271 broad.mit.edu 37 2 43969971 43969971 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:43969971G>A ENST00000282406.4 + 22 3423 c.3313G>A c.(3313-3315)Gaa>Aaa p.E1105K NM_172069.3 NP_742066.2 Q8IVE3 PKHH2_HUMAN pleckstrin homology domain containing, family H (with MyTH4 domain) member 2 1105 MyTH4. cytoplasm|cytoskeleton|integral to membrane binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 56 all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17) CTCAAGGATGGAAATTCTTTC 0.413000 35 65 0 0 1 0 0 DSP 1832 broad.mit.edu 37 6 7575639 7575639 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:7575639G>A ENST00000379802.3 + 18 2889 c.2548G>A c.(2548-2550)Gat>Aat p.D850N DSP_ENST00000418664.2_Missense_Mutation_p.D850N NM_004415.2 NP_004406.2 P15924 DESP_HUMAN desmoplakin 850 Globular 1. cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural constituent of cytoskeleton biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5) 101 Ovarian(93;0.0584) all_hematologic(90;0.236) OV - Ovarian serous cystadenocarcinoma(45;0.000508) TCCACTTTATGATCTGGACTT 0.473000 60 213 0 0 1 0 0 ALMS1 7840 broad.mit.edu 37 2 73786199 73786199 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:73786199C>T ENST00000264448.6 + 15 10422 c.10311C>T c.(10309-10311)atC>atT p.I3437I ALMS1_ENST00000409009.1_Silent_p.I3395I NM_015120.4 NP_055935.4 Q8TCU4 ALMS1_HUMAN Alstrom syndrome 1 3437 G2/M transition of mitotic cell cycle centrosome|cilium|cytosol|microtubule basal body|spindle pole breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 147 AAGAGGAGATCCATAGGAAGA 0.458000 29 49 0 0 1 0 0 EFCAB3 146779 broad.mit.edu 37 17 60484516 60484516 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:60484516G>A ENST00000450662.2 + 10 1037 c.966G>A c.(964-966)aaG>aaA p.K322K EFCAB3_ENST00000305286.3_Silent_p.K270K NM_001144933.1 NP_001138405.1 Q8N7B9 EFCB3_HUMAN EF-hand calcium binding domain 3 270 calcium ion binding cervix(1)|endometrium(2)|large_intestine(5)|lung(6)|skin(3) 17 BRCA - Breast invasive adenocarcinoma(2;2.27e-11) TAAGAATAAAGGAGCCTTTGC 0.348000 34 136 0 0 1 0 0 ADD2 119 broad.mit.edu 37 2 70933544 70933544 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:70933544C>T ENST00000430656.1 - 2 342 c.45G>A c.(43-45)ggG>ggA p.G15G ADD2_ENST00000264436.3_5'UTR|ADD2_ENST00000355733.3_5'UTR|ADD2_ENST00000413157.2_5'UTR|ADD2_ENST00000473232.1_Intron|ADD2_ENST00000407644.2_5'UTR NM_001185055.1 NP_001171984.1 P35612 ADDB_HUMAN adducin 2 (beta) 0 actin filament bundle assembly|barbed-end actin filament capping|positive regulation of protein binding cytoplasm|F-actin capping protein complex|plasma membrane actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2) 36 CGCTCATTTTCCCGGTGGGTT 0.617000 43 79 0 0 1 0 0 PTPRF 5792 broad.mit.edu 37 1 44064477 44064477 + Missense_Mutation SNP A A G TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:44064477A>G ENST00000359947.4 + 13 2546 c.2206A>G c.(2206-2208)Aag>Gag p.K736E PTPRF_ENST00000372413.3_Missense_Mutation_p.K736E|PTPRF_ENST00000372414.3_Missense_Mutation_p.K736E|PTPRF_ENST00000438120.1_Missense_Mutation_p.K736E|PTPRF_ENST00000422171.2_Missense_Mutation_p.K93E|PTPRF_ENST00000496447.1_3'UTR NM_002840.3 NP_002831.2 P10586 PTPRF_HUMAN protein tyrosine phosphatase, receptor type, F 736 Fibronectin type-III 5. transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane transmembrane receptor protein tyrosine phosphatase activity NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3) 72 all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0333) TGTCCCCAGCAAGCAGCATGG 0.642000 38 80 0 0 1 0 0 PTPRC 5788 broad.mit.edu 37 1 198723533 198723533 + Splice_Site SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:198723533C>T ENST00000367376.2 + 32 3810 c.3639_splice c.e32+1 p.F1213_splice PTPRC_ENST00000442510.2_Splice_Site_p.F1215_splice|PTPRC_ENST00000352140.3_Splice_Site_p.F1165_splice|PTPRC_ENST00000348564.6_Splice_Site_p.F1054_splice|PTPRC_ENST00000594404.1_Splice_Site_p.F1052_splice NM_002838.4 NP_002829.3 P08575 PTPRC_HUMAN protein tyrosine phosphatase, receptor type, C 1213 Tyrosine-protein phosphatase 2. axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway focal adhesion|integral to plasma membrane|membrane raft protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3) 111 TTTCCACATTCGTAAGTATCC 0.383000 50 104 0 0 1 0 0 SMC5 23137 broad.mit.edu 37 9 72939047 72939047 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:72939047C>T ENST00000361138.5 + 17 2443 c.2385C>T c.(2383-2385)ctC>ctT p.L795L NM_015110.3 NP_055925.2 Q8IY18 SMC5_HUMAN structural maintenance of chromosomes 5 795 DNA recombination|DNA repair chromosome|nucleus ATP binding breast(1)|central_nervous_system(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(4) 35 CTTCACAACTCCGTCTTACAG 0.318000 37 83 0 0 1 0 0 RBP3 5949 broad.mit.edu 37 10 48387941 48387941 + Silent SNP C C G TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:48387941C>G ENST00000224600.4 - 1 3050 c.2937G>C c.(2935-2937)gtG>gtC p.V979V NM_002900.2 NP_002891.1 P10745 RET3_HUMAN retinol binding protein 3, interstitial 979 4 X approximate tandem repeats. lipid metabolic process|proteolysis|transport|visual perception interphotoreceptor matrix retinal binding|serine-type peptidase activity central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 59 Vitamin A(DB00162) CGGCTAGGGCCACTTCTGAGG 0.612000 7 165 0 0 1 0 0 HIPK4 147746 broad.mit.edu 37 19 40895751 40895751 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:40895751C>T ENST00000291823.2 - 1 343 c.59G>A c.(58-60)gGg>gAg p.G20E NM_144685.3 NP_653286.2 Q8NE63 HIPK4_HUMAN homeodomain interacting protein kinase 4 20 Protein kinase. cytoplasm ATP binding|protein serine/threonine kinase activity breast(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 20 Lung(22;4.95e-05)|LUSC - Lung squamous cell carcinoma(20;0.000292) CCCGAAGGTCCCCTTGCCCAA 0.627000 36 77 0 0 1 0 0 EXOC4 60412 broad.mit.edu 37 7 133160206 133160206 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:133160206G>A ENST00000253861.4 + 8 1336 c.1307G>A c.(1306-1308)aGg>aAg p.R436K EXOC4_ENST00000393161.2_Missense_Mutation_p.R436K|EXOC4_ENST00000539845.1_Missense_Mutation_p.R335K NM_021807.3 NP_068579.3 Q96A65 EXOC4_HUMAN exocyst complex component 4 436 vesicle docking involved in exocytosis exocyst protein N-terminus binding NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(16)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 50 Esophageal squamous(399;0.129) AAACCTCAAAGGCCAAAAAAT 0.373000 11 286 0 0 1 0 0 ASB5 140458 broad.mit.edu 37 4 177138133 177138133 + Nonsense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:177138133C>T ENST00000296525.3 - 6 811 c.698G>A c.(697-699)tGg>tAg p.W233* ASB5_ENST00000512254.1_Nonsense_Mutation_p.W180* NM_080874.3 NP_543150.1 Q8WWX0 ASB5_HUMAN ankyrin repeat and SOCS box containing 5 233 intracellular signal transduction endometrium(2)|kidney(1)|large_intestine(9)|lung(18)|prostate(2)|skin(2) 34 Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;2.13e-20)|Epithelial(43;9.94e-18)|OV - Ovarian serous cystadenocarcinoma(60;2e-09)|GBM - Glioblastoma multiforme(59;0.000254)|STAD - Stomach adenocarcinoma(60;0.000653)|LUSC - Lung squamous cell carcinoma(193;0.0393) TGGAGTATCCCAATATTTGCC 0.383000 60 143 0 0 1 0 0 CACNG7 59284 broad.mit.edu 37 19 54417759 54417759 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:54417759G>A ENST00000391767.1 + 3 414 c.202G>A c.(202-204)Gag>Aag p.E68K CACNG7_ENST00000222212.2_Missense_Mutation_p.E68K|CACNG7_ENST00000468076.1_Intron|CACNG7_ENST00000391766.1_Missense_Mutation_p.E68K P62955 CCG7_HUMAN calcium channel, voltage-dependent, gamma subunit 7 68 regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|voltage-gated calcium channel complex voltage-gated calcium channel activity NS(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 23 all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218) GBM - Glioblastoma multiforme(134;0.0711) CCCAGGTCGGGAGAAAGGTCG 0.557000 19 37 0 0 1 0 0 SYTL2 54843 broad.mit.edu 37 11 85436422 85436422 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:85436422G>A ENST00000359152.5 - 1 2649 c.2650C>T c.(2650-2652)Cct>Tct p.P884S SYTL2_ENST00000528231.1_Intron|SYTL2_ENST00000527523.1_Intron|SYTL2_ENST00000525423.1_Missense_Mutation_p.P360S|SYTL2_ENST00000389960.4_Intron|SYTL2_ENST00000524452.1_Intron|SYTL2_ENST00000354566.3_Missense_Mutation_p.P360S|SYTL2_ENST00000316356.4_Intron NM_206928.2 NP_996811.1 Q9HCH5 SYTL2_HUMAN synaptotagmin-like 2 0 intracellular protein transport|vesicle docking involved in exocytosis exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding|Rab GTPase binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 52 Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033) KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237) TCTTGGGGAGGGCTGGCCACA 0.478000 7 130 0 0 1 0 0 IKZF1 10320 broad.mit.edu 37 7 50468053 50468053 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:50468053G>A ENST00000331340.3 + 8 1443 c.1288G>A c.(1288-1290)Gag>Aag p.E430K IKZF1_ENST00000438033.1_Missense_Mutation_p.E343K|IKZF1_ENST00000349824.4_Missense_Mutation_p.E287K|IKZF1_ENST00000343574.5_Missense_Mutation_p.E343K|IKZF1_ENST00000357364.4_Missense_Mutation_p.E343K|IKZF1_ENST00000346667.4_Missense_Mutation_p.E200K|IKZF1_ENST00000440768.2_3'UTR|IKZF1_ENST00000359197.5_Missense_Mutation_p.E388K|IKZF1_ENST00000439701.1_Missense_Mutation_p.E388K NM_001220769.1|NM_001220772.1|NM_001220773.1|NM_001220775.1|NM_006060.4 NP_001207698.1|NP_001207701.1|NP_001207702.1|NP_001207704.1|NP_006051.1 Q13422 IKZF1_HUMAN IKAROS family zinc finger 1 (Ikaros) 430 cell cycle|chromatin modification|mesoderm development cytoplasm|nucleus zinc ion binding p.?(28) haematopoietic_and_lymphoid_tissue(275)|lung(1) 276 Glioma(55;0.08)|all_neural(89;0.245) Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07) GTCGCTCAAGGAGGAGCACCG 0.667000 """D,T""" BCL6 """ALL, DLBCL""" 13 40 0 0 1 0 0 UTS2B 257313 broad.mit.edu 37 3 190993107 190993107 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:190993107C>T ENST00000340524.5 - 8 1054 c.268G>A c.(268-270)Gag>Aag p.E90K UTS2B_ENST00000427544.2_Missense_Mutation_p.E90K NM_198152.3 NP_937795.2 urotensin 2B TCCTTCTCCTCCACTAGCTGT 0.393000 48 108 0 0 1 0 0 OR2W3 343171 broad.mit.edu 37 1 248059088 248059088 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:248059088C>T ENST00000537741.1 + 3 457 c.200C>T c.(199-201)tCc>tTc p.S67F OR2W3_ENST00000360358.3_Missense_Mutation_p.S67F Q7Z3T1 OR2W3_HUMAN olfactory receptor, family 2, subfamily W, member 3 67 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3) 49 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0319) GCCCACCTTTCCTTCCTGGAC 0.582000 151 150 0 0 1 0 0 TBX5 6910 broad.mit.edu 37 12 114804053 114804053 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:114804053G>A ENST00000310346.4 - 8 1565 c.899C>T c.(898-900)cCc>cTc p.P300L TBX5_ENST00000526441.1_Missense_Mutation_p.P300L|TBX5_ENST00000405440.2_Missense_Mutation_p.P300L|TBX5_ENST00000349716.5_Missense_Mutation_p.P250L NM_000192.3 NP_000183.2 Q99593 TBX5_HUMAN T-box 5 300 cardiac left ventricle formation|cell migration involved in coronary vasculogenesis|cell-cell signaling|embryonic arm morphogenesis|induction of apoptosis|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|pericardium development|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|ventricular septum development cytoplasm|nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(29)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 56 Medulloblastoma(191;0.163)|all_neural(191;0.178) BRCA - Breast invasive adenocarcinoma(302;0.0893) GTCCTGGGAGGGGCCGGAAAC 0.562000 32 65 0 0 1 0 0 DSCAM 1826 broad.mit.edu 37 21 41385036 41385036 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr21:41385036G>A ENST00000400454.1 - 33 6441 c.5964C>T c.(5962-5964)tcC>tcT p.S1988S NM_001389.3 NP_001380.2 O60469 DSCAM_HUMAN Down syndrome cell adhesion molecule 1988 HRPGDLIHLPPYLRMDFLLNRGGPGTSRDLSLGQACLEPQK SRTLKRPTVLEPIPMEAASSASSTREGQSWQPGAVATLPQR EGAELGQAAKMSSSQESLLDSRGHLKGNNPYAKSYTLV -> IGQVTSYICLHTLEWTFC (in Ref. 1; AAC17966). cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction protein binding NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4) 142 all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103) GTGATTCTTGGGAGCTGCTCA 0.562000 14 53 0 0 1 0 0 KCNJ10 3766 broad.mit.edu 37 1 160011549 160011549 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:160011549C>T ENST00000368089.3 - 2 1000 c.774G>A c.(772-774)gtG>gtA p.V258V KCNJ10_ENST00000509700.1_Intron NM_002241.4 NP_002232.2 P78508 IRK10_HUMAN potassium inwardly-rectifying channel, subfamily J, member 10 258 integral to plasma membrane ATP binding|ATP-activated inward rectifier potassium channel activity breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(1) 17 all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) TCTCATCTACCACATGATAGA 0.517000 48 113 0 0 1 0 0 PPP1R3A 5506 broad.mit.edu 37 7 113522352 113522352 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:113522352G>A ENST00000284601.3 - 2 874 c.806C>T c.(805-807)tCa>tTa p.S269L NM_002711.3 NP_002702.2 Q16821 PPR3A_HUMAN protein phosphatase 1, regulatory subunit 3A 269 glycogen metabolic process integral to membrane NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2) 121 ATTTTCTTCTGATGTTACTGA 0.269000 14 36 0 0 1 0 0 FAM83B 222584 broad.mit.edu 37 6 54806581 54806581 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:54806581G>A ENST00000306858.7 + 5 2928 c.2812G>A c.(2812-2814)Gag>Aag p.E938K NM_001010872.1 NP_001010872.1 Q5T0W9 FA83B_HUMAN family with sequence similarity 83, member B 938 autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1) 71 Lung NSC(77;0.0178)|Renal(3;0.122) CAGTCGTTTTGAGCCGTTTTG 0.443000 47 120 0 0 1 0 0 UNC5C 8633 broad.mit.edu 37 4 96140269 96140269 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:96140269G>A ENST00000453304.1 - 9 1844 c.1496C>T c.(1495-1497)tCc>tTc p.S499F UNC5C_ENST00000506749.1_Missense_Mutation_p.S518F NM_003728.3 NP_003719.3 O95185 UNC5C_HUMAN unc-5 homolog C (C. elegans) 499 apoptosis|axon guidance|brain development integral to membrane netrin receptor activity NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 55 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;8.72e-10) GGACAGCTTGGACGTAAACTC 0.517000 37 144 0 0 1 0 0 SOX13 9580 broad.mit.edu 37 1 204095168 204095168 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:204095168C>T ENST00000367204.1 + 14 1884 c.1775C>T c.(1774-1776)tCg>tTg p.S592L NM_005686.2 NP_005677.2 Q9UN79 SOX13_HUMAN SRY (sex determining region Y)-box 13 592 anatomical structure morphogenesis nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(2)|prostate(2) 13 all_cancers(21;0.0754)|Breast(84;0.116)|all_epithelial(62;0.189) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109) GACAGGCACTCGGTGGCTGAT 0.607000 18 49 0 0 1 0 0 MYOCD 93649 broad.mit.edu 37 17 12626254 12626254 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:12626254G>A ENST00000425538.1 + 5 544 c.344G>A c.(343-345)cGa>cAa p.R115Q MYOCD_ENST00000343344.4_Missense_Mutation_p.R115Q|MYOCD_ENST00000395988.1_Missense_Mutation_p.R19Q NM_001146312.1|NM_153604.2 NP_001139784.1|NP_705832.1 Q8IZQ8 MYCD_HUMAN myocardin 115 cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation nucleus nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 70 UCEC - Uterine corpus endometrioid carcinoma (92;0.0969) ATTGCTCTACGACCAGGGCCA 0.468000 50 144 0 0 1 0 0 OR5L2 26338 broad.mit.edu 37 11 55594787 55594787 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:55594787C>T ENST00000378397.1 + 1 93 c.93C>T c.(91-93)ttC>ttT p.F31F NM_001004739.1 NP_001004739.1 Q8NGL0 OR5L2_HUMAN olfactory receptor, family 5, subfamily L, member 2 31 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 59 all_epithelial(135;0.208) TCCTGCTGTTCCTTCTCATCT 0.517000 HNSCC(27;0.073) 30 304 0 0 1 0 0 HECTD2 143279 broad.mit.edu 37 10 93220198 93220198 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:93220198C>T ENST00000446394.1 + 3 383 c.283C>T c.(283-285)Cca>Tca p.P95S HECTD2_ENST00000371681.4_Missense_Mutation_p.P95S|HECTD2_ENST00000298068.5_Missense_Mutation_p.P95S Q5U5R9 HECD2_HUMAN HECT domain containing E3 ubiquitin protein ligase 2 95 protein ubiquitination involved in ubiquitin-dependent protein catabolic process intracellular ubiquitin-protein ligase activity breast(2)|endometrium(2)|kidney(4)|large_intestine(10)|lung(7)|skin(1)|urinary_tract(1) 27 AGAACCACCACCAATTTGCCT 0.343000 53 131 0 0 1 0 0 CCDC180 100499483 broad.mit.edu 37 9 100116863 100116863 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:100116863G>A ENST00000375202.2 + 37 4499 c.3147G>A c.(3145-3147)gaG>gaA p.E1049E CCDC180_ENST00000357054.1_Silent_p.E1020E|CCDC180_ENST00000529487.1_Silent_p.E1049E|CCDC180_ENST00000395220.1_3'UTR|RP11-23J9.4_ENST00000534123.1_RNA coiled-coil domain containing 180 TGTTTTCAGAGGGAGGCAACT 0.408000 7 128 0 0 1 0 0 OR1L1 26737 broad.mit.edu 37 9 125424513 125424513 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:125424513C>T ENST00000373686.1 + 1 669 c.669C>T c.(667-669)gtC>gtT p.V223V Q8NH94 OR1L1_HUMAN olfactory receptor, family 1, subfamily L, member 1 223 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1) 17 CCTCAAATGTCATCCATCACT 0.443000 139 241 0 0 1 0 0 SLC5A7 60482 broad.mit.edu 37 2 108609545 108609545 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:108609545G>A ENST00000264047.2 + 4 686 c.410G>A c.(409-411)gGa>gAa p.G137E SLC5A7_ENST00000540517.1_Missense_Mutation_p.G32E|SLC5A7_ENST00000409059.1_Missense_Mutation_p.G137E NM_021815.2 NP_068587.1 Q9GZV3 SC5A7_HUMAN solute carrier family 5 (sodium/choline cotransporter), member 7 137 acetylcholine biosynthetic process|neurotransmitter secretion integral to membrane|plasma membrane choline:sodium symporter activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2) 49 Choline(DB00122) GCACTGATGGGAGAAATGTTC 0.443000 37 70 0 0 1 0 0 HCN4 10021 broad.mit.edu 37 15 73617465 73617465 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr15:73617465G>A ENST00000261917.3 - 6 2802 c.1809C>T c.(1807-1809)ttC>ttT p.F603F NM_005477.2 NP_005468.1 Q9Y3Q4 HCN4_HUMAN hyperpolarization activated cyclic nucleotide-gated potassium channel 4 603 blood circulation|muscle contraction integral to membrane cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 55 COAD - Colon adenocarcinoma(1;0.142) TGGACGTCACGAAGTTGGGGT 0.562000 40 136 0 0 1 0 0 APCS 325 broad.mit.edu 37 1 159557732 159557732 + Nonsense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:159557732G>A ENST00000255040.2 + 1 118 c.21G>A c.(19-21)tgG>tgA p.W7* NM_001639.3 NP_001630.1 P02743 SAMP_HUMAN amyloid P component, serum 7 acute-phase response|chaperone-mediated protein complex assembly|protein folding extracellular space metal ion binding|sugar binding|unfolded protein binding breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(2) 20 all_hematologic(112;0.0429) CGCTGCTTTGGATCTCTGTCC 0.507000 73 72 0 0 1 0 0 ZNF287 57336 broad.mit.edu 37 17 16470880 16470880 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:16470880G>A ENST00000395824.1 - 2 783 c.166C>T c.(166-168)Cca>Tca p.P56S ZNF287_ENST00000395825.3_Missense_Mutation_p.P56S Q9HBT7 ZN287_HUMAN zinc finger protein 287 49 SCAN box. viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(5)|prostate(1)|urinary_tract(1) 20 UCEC - Uterine corpus endometrioid carcinoma (92;0.083) TCTGGGTATGGAAAATTCCTA 0.458000 43 97 0 0 1 0 0 RAI1 10743 broad.mit.edu 37 17 17696859 17696859 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:17696859C>T ENST00000353383.1 + 3 1066 c.597C>T c.(595-597)tcC>tcT p.S199S RAI1_ENST00000261641.6_Silent_p.S199S NM_030665.3 NP_109590.3 Q7Z5J4 RAI1_HUMAN retinoic acid induced 1 199 Gln-rich. cytoplasm|nucleus zinc ion binding breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7) 48 READ - Rectum adenocarcinoma(1115;0.0276) ACATTGCCTCCCCTCTGCCCT 0.647000 38 107 0 0 1 0 0 TMEM74 157753 broad.mit.edu 37 8 109796816 109796816 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:109796816C>T ENST00000297459.3 - 2 690 c.512G>A c.(511-513)gGg>gAg p.G171E TMEM74_ENST00000518838.1_Intron NM_153015.1 NP_694560.1 Q96NL1 TMM74_HUMAN transmembrane protein 74 171 autophagy autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane|lysosomal membrane breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1) 29 OV - Ovarian serous cystadenocarcinoma(57;3.08e-10) TATAGACTTCCCTGAAGACGT 0.483000 30 82 0 0 1 0 0 TSHZ2 128553 broad.mit.edu 37 20 51870820 51870820 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr20:51870820C>T ENST00000371497.5 + 2 1710 c.823C>T c.(823-825)Ctg>Ttg p.L275L TSHZ2_ENST00000329613.6_Silent_p.L272L|TSHZ2_ENST00000603338.2_Silent_p.L272L NM_001193421.1|NM_173485.5 NP_001180350.1|NP_775756.3 Q9NRE2 TSH2_HUMAN teashirt zinc finger homeobox 2 275 multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 84 STAD - Stomach adenocarcinoma(23;0.1) TCAAAAGGTTCTGAAATGTAT 0.438000 8 83 0 0 1 0 0 IL20RB 53833 broad.mit.edu 37 3 136714332 136714332 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:136714332C>T ENST00000329582.4 + 6 1008 c.759C>T c.(757-759)ttC>ttT p.F253F IL20RB_ENST00000309741.5_3'UTR NM_144717.3 NP_653318.2 Q6UXL0 I20RB_HUMAN interleukin 20 receptor beta 253 integral to membrane receptor activity kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 14 TGCCACTGTTCGTCTGGAAAA 0.502000 141 300 0 0 1 0 0 MORN1 79906 broad.mit.edu 37 1 2255573 2255573 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:2255573C>T ENST00000378531.3 - 13 1433 c.1260G>A c.(1258-1260)ggG>ggA p.G420G NM_024848.1 NP_079124.1 Q5T089 MORN1_HUMAN MORN repeat containing 1 420 breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(1)|ovary(2) 9 all_cancers(77;0.000194)|all_epithelial(69;9.96e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634) all_epithelial(116;3.3e-15)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217) Epithelial(90;2.21e-37)|OV - Ovarian serous cystadenocarcinoma(86;5.01e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.00137)|BRCA - Breast invasive adenocarcinoma(365;0.00488)|STAD - Stomach adenocarcinoma(132;0.00665)|KIRC - Kidney renal clear cell carcinoma(229;0.0203)|Lung(427;0.212) CCGTGGCTCTCCCCTCAGGCC 0.672000 8 8 0 0 1 0 0 DPP10 57628 broad.mit.edu 37 2 116283548 116283548 + Splice_Site SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:116283548G>A ENST00000410059.1 + 5 921 c.441_splice c.e5+1 p.Q147_splice DPP10_ENST00000488208.1_3'UTR|DPP10_ENST00000409163.1_Splice_Site_p.Q97_splice|DPP10_ENST00000310323.8_Splice_Site_p.Q140_splice|DPP10_ENST00000393147.2_Splice_Site_p.Q151_splice NM_001178037.1|NM_020868.3 NP_001171508.1|NP_065919.2 Q8N608 DPP10_HUMAN dipeptidyl-peptidase 10 (non-functional) 147 proteolysis integral to membrane|membrane fraction serine-type peptidase activity breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1) 101 ATGTCAAACAGGTAAAGGAGT 0.348000 25 55 0 0 1 0 0 EVPL 2125 broad.mit.edu 37 17 74004342 74004342 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:74004342C>T ENST00000301607.3 - 22 5197 c.4944G>A c.(4942-4944)gaG>gaA p.E1648E EVPL_ENST00000586740.1_Silent_p.E1670E NM_001988.2 NP_001979.2 Q92817 EVPL_HUMAN envoplakin 1648 Central fibrous rod domain. keratinization|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural molecule activity breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4) 54 TCTGGTCCTTCTCGCGGAGGA 0.677000 8 123 0 0 1 0 0 CASP10 843 broad.mit.edu 37 2 202065193 202065193 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:202065193G>A ENST00000374650.3 + 6 868 c.712G>A c.(712-714)Gga>Aga p.G238R CASP10_ENST00000286186.6_Intron|CASP10_ENST00000272879.5_Intron|CASP10_ENST00000492363.1_Intron|CASP10_ENST00000360132.3_Intron|CASP10_ENST00000346817.5_Intron|CASP10_ENST00000448480.1_Intron|CASP10_ENST00000313728.7_Intron Q92851 CASPA_HUMAN caspase 10, apoptosis-related cysteine peptidase 238 apoptosis|induction of apoptosis by extracellular signals|proteolysis cytosol|plasma membrane cysteine-type endopeptidase activity|identical protein binding|protein binding breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3) 27 TTTAAATGAAGGAGACCGTGG 0.488000 4 56 0 0 1 0 0 ZNF804A 91752 broad.mit.edu 37 2 185802482 185802482 + Nonsense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:185802482C>T ENST00000302277.6 + 4 2953 c.2359C>T c.(2359-2361)Cga>Tga p.R787* NM_194250.1 NP_919226.1 Q7Z570 Z804A_HUMAN zinc finger protein 804A 787 intracellular zinc ion binding NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1) 146 AAGTTTAAATCGACAGAATCA 0.368000 29 52 0 0 1 0 0 SNED1 25992 broad.mit.edu 37 2 241969736 241969736 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:241969736G>A ENST00000310397.8 + 2 249 c.249G>A c.(247-249)gaG>gaA p.E83E SNED1_ENST00000342631.6_Silent_p.E83E|SNED1_ENST00000401884.1_Silent_p.E83E|SNED1_ENST00000405547.3_Silent_p.E83E|AC005237.4_ENST00000458377.1_RNA NM_001080437.1 NP_001073906.1 Q8TER0 SNED1_HUMAN sushi, nidogen and EGF-like domains 1 83 cell-matrix adhesion extracellular region calcium ion binding NS(1)|breast(1)|central_nervous_system(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1) 24 all_cancers(19;7.48e-31)|all_epithelial(40;1.35e-12)|Breast(86;0.000148)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238) Epithelial(32;6.46e-32)|all cancers(36;6.23e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.1e-14)|Kidney(56;6.35e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.98e-08)|BRCA - Breast invasive adenocarcinoma(100;3.66e-06)|Lung(119;0.00072)|LUSC - Lung squamous cell carcinoma(224;0.00553)|Colorectal(34;0.0162)|COAD - Colon adenocarcinoma(134;0.109) TCCTGAAGGAGGTTTCTCAGT 0.632000 7 15 0 0 1 0 0 USP6 9098 broad.mit.edu 37 17 5036244 5036244 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:5036244G>A ENST00000574788.1 + 13 2465 c.235G>A c.(235-237)Gaa>Aaa p.E79K USP6_ENST00000250066.6_Missense_Mutation_p.E79K|USP6_ENST00000572429.1_3'UTR|USP6_ENST00000332776.4_Missense_Mutation_p.E79K|USP6_ENST00000304328.5_5'UTR P35125 UBP6_HUMAN ubiquitin specific peptidase 6 (Tre-2 oncogene) 79 protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process lysosome|plasma membrane|recycling endosome calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 34 CAAGTGGATGGAAATGCTGGG 0.537000 T """COL1A1, CDH11, ZNF9, OMD""" aneurysmal bone cysts 62 173 0 0 1 0 0 TMEM98 26022 broad.mit.edu 37 17 31260195 31260195 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:31260195C>T ENST00000579849.1 + 4 566 c.135C>T c.(133-135)ccC>ccT p.P45P TMEM98_ENST00000394642.3_Silent_p.P45P|TMEM98_ENST00000578289.1_Silent_p.P45P NM_015544.2 NP_056359.2 Q9Y2Y6 TMM98_HUMAN transmembrane protein 98 45 endoplasmic reticulum|integral to membrane kidney(2)|large_intestine(1) 3 Ovarian(249;0.182)|Breast(31;0.244) BRCA - Breast invasive adenocarcinoma(9;0.0769) CTTCCAGGCCCATTGTGGACC 0.532000 25 61 0 0 1 0 0 UGT2B11 10720 broad.mit.edu 37 4 70066172 70066172 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:70066172C>T ENST00000446444.1 - 6 1584 c.1576G>A c.(1576-1578)Gga>Aga p.G526R RP11-704M14.1_ENST00000504301.1_RNA|RP11-704M14.1_ENST00000505646.1_RNA NM_001073.1 NP_001064.1 O75310 UDB11_HUMAN UDP glucuronosyltransferase 2 family, polypeptide B11 526 estrogen metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 42 TCTCTTTTTCCCTTCTTCCCT 0.373000 35 85 0 0 1 0 0 MEP1A 4224 broad.mit.edu 37 6 46793100 46793100 + Silent SNP T T G TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:46793100T>G ENST00000230588.4 + 8 657 c.648T>G c.(646-648)ccT>ccG p.P216P NM_005588.2 NP_005579.2 Q16819 MEP1A_HUMAN meprin A, alpha (PABA peptide hydrolase) 216 Metalloprotease. digestion|proteolysis extracellular space|integral to plasma membrane|soluble fraction metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 42 Lung(136;0.192) ACTACCAGCCTTTCTCATTTA 0.433000 32 108 0 0 1 0 0 KLHDC8A 55220 broad.mit.edu 37 1 205308926 205308926 + Silent SNP T T A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:205308926T>A ENST00000367156.3 - 6 1203 c.387A>T c.(385-387)gtA>gtT p.V129V KLHDC8A_ENST00000367155.3_Silent_p.V129V|KLHDC8A_ENST00000539253.1_Silent_p.V129V|KLHDC8A_ENST00000460687.1_5'UTR|KLHDC8A_ENST00000537168.1_Silent_p.V16V NM_001271863.1 NP_001258792.1 Q8IYD2 KLD8A_HUMAN kelch domain containing 8A 129 breast(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 14 Breast(84;0.23) BRCA - Breast invasive adenocarcinoma(75;0.117) CTGCCGCATATACTCGGTAAT 0.567000 28 41 0 0 1 0 0 ST18 9705 broad.mit.edu 37 8 53055572 53055572 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:53055572C>T ENST00000276480.7 - 17 2769 c.2086G>A c.(2086-2088)Gaa>Aaa p.E696K NM_014682.2 NP_055497.1 O60284 ST18_HUMAN suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein) 696 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 85 Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229) AACTTTTTTTCCTCTAAATTT 0.413000 34 90 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9068733 9068733 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:9068733G>A ENST00000397910.4 - 3 18916 c.18713C>T c.(18712-18714)tCc>tTc p.S6238F NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 6240 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 TTGCAATGTGGAAGTTACAGG 0.483000 32 79 0 0 1 0 0 ADCY7 113 broad.mit.edu 37 16 50326709 50326709 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr16:50326709G>A ENST00000394697.2 + 5 1000 c.660G>A c.(658-660)cgG>cgA p.R220R ADCY7_ENST00000538642.1_Silent_p.R220R|ADCY7_ENST00000537579.1_Silent_p.R220R|ADCY7_ENST00000254235.3_Silent_p.R220R|ADCY7_ENST00000564044.1_3'UTR|ADCY7_ENST00000566433.2_Silent_p.R220R P51828 ADCY7_HUMAN adenylate cyclase 7 220 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to ethanol|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of cAMP biosynthetic process|synaptic transmission|transmembrane transport|water transport integral to membrane|plasma membrane adenylate cyclase activity|ATP binding|metal ion binding breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3) 35 all_cancers(37;0.0127) GBM - Glioblastoma multiforme(240;0.195) Bromocriptine(DB01200) AGATCCGCCGGAAGCTGCGCA 0.597000 13 118 0 0 1 0 0 IGLV5-45 28781 broad.mit.edu 37 22 22730602 22730602 + RNA SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr22:22730602C>T ENST00000390296.2 + 0 125 CTCTGCATCTCCTGGAGCATC 0.542000 36 101 0 0 1 0 0 LRRC30 339291 broad.mit.edu 37 18 7231808 7231808 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr18:7231808C>T ENST00000383467.2 + 1 686 c.672C>T c.(670-672)ttC>ttT p.F224F NM_001105581.1 NP_001099051.1 A6NM36 LRC30_HUMAN leucine rich repeat containing 30 224 central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(1)|skin(3) 31 TCCACTCCTTCCCGAGGTCGC 0.582000 51 70 0 0 1 0 0 MAML2 84441 broad.mit.edu 37 11 95712253 95712253 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:95712253G>A ENST00000524717.1 - 5 4614 c.3330C>T c.(3328-3330)ttC>ttT p.F1110F NM_032427.1 NP_115803.1 Q8IZL2 MAML2_HUMAN mastermind-like 2 (Drosophila) 1110 Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear speck transcription coactivator activity CRTC3/MAML2(26)|CRTC1/MAML2(516) breast(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 43 Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837) GTTGGCTGAGGAAGTCAAAAG 0.463000 T """MECT1, CRTC3""" salivary gland mucoepidermoid 50 30 0 0 1 0 0 PGK2 5232 broad.mit.edu 37 6 49754541 49754541 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:49754541C>T ENST00000304801.3 - 1 512 c.360G>A c.(358-360)gaG>gaA p.E120E NM_138733.4 NP_620061.2 P07205 PGK2_HUMAN phosphoglycerate kinase 2 120 glycolysis cytosol ATP binding|phosphoglycerate kinase activity autonomic_ganglia(1)|endometrium(3)|large_intestine(12)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 47 Lung NSC(77;0.0402) AGCGCAGGTTCTCCAGCAGGA 0.522000 43 161 0 0 1 0 0 WDR64 128025 broad.mit.edu 37 1 241850858 241850858 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:241850858C>T ENST00000366552.2 + 7 1112 c.905C>T c.(904-906)tCa>tTa p.S302L WDR64_ENST00000437684.2_Missense_Mutation_p.S302L NM_144625.4 NP_653226.4 B1ANS9 WDR64_HUMAN WD repeat domain 64 302 breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(17)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 Ovarian(103;0.103) all_cancers(173;0.0121) OV - Ovarian serous cystadenocarcinoma(106;0.0116) AGTAATCATTCATTAGTTTTG 0.318000 95 137 0 0 1 0 0 GPR123 84435 broad.mit.edu 37 10 134885528 134885528 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:134885528G>A ENST00000607359.1 + 2 287 c.287G>A c.(286-288)aGa>aAa p.R96K Q86SQ6 GP123_HUMAN G protein-coupled receptor 123 0 integral to membrane|plasma membrane G-protein coupled receptor activity p.R96K(1) endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(3) 14 all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05) TATTTGCAGAGACAGGCTCTT 0.667000 5 15 0 0 1 0 0 OR2B11 127623 broad.mit.edu 37 1 247614721 247614721 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:247614721C>T ENST00000318749.6 - 1 587 c.564G>A c.(562-564)gtG>gtA p.V188V NM_001004492.1 NP_001004492.1 Q5JQS5 OR2BB_HUMAN olfactory receptor, family 2, subfamily B, member 11 188 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|kidney(13)|large_intestine(7)|lung(31)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1) 60 all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.241) OV - Ovarian serous cystadenocarcinoma(106;0.0188) ACAGCTTGATCACGGCCGGCA 0.582000 39 37 0 0 1 0 0 SULF1 23213 broad.mit.edu 37 8 70513961 70513961 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:70513961C>T ENST00000260128.4 + 10 1675 c.958C>T c.(958-960)Cat>Tat p.H320Y SULF1_ENST00000521946.1_3'UTR|SULF1_ENST00000419716.3_Missense_Mutation_p.H320Y|SULF1_ENST00000402687.4_Missense_Mutation_p.H320Y|SULF1_ENST00000458141.2_Missense_Mutation_p.H320Y NM_015170.2 NP_055985.2 Q8IWU6 SULF1_HUMAN sulfatase 1 320 apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway cell surface|endoplasmic reticulum|extracellular space|Golgi stack arylsulfatase activity|calcium ion binding breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 52 Breast(64;0.0654) Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534) CCATGGTTACCATATTGGGCA 0.453000 82 187 0 0 1 0 0 CLEC10A 10462 broad.mit.edu 37 17 6980064 6980064 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:6980064C>T ENST00000576617.1 - 5 609 c.340G>A c.(340-342)Gaa>Aaa p.E114K CLEC10A_ENST00000416562.2_Missense_Mutation_p.E114K|CLEC10A_ENST00000254868.4_Missense_Mutation_p.E114K|CLEC10A_ENST00000571664.1_Missense_Mutation_p.E114K Q8IUN9 CLC10_HUMAN C-type lectin domain family 10, member A 114 endocytosis|innate immune response integral to membrane|plasma membrane sugar binding central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1) 10 GCCTGCCGTTCCTGCTTGAAA 0.587000 8 400 0 0 1 0 0 NDRG1 10397 broad.mit.edu 37 8 134271421 134271421 + Nonsense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:134271421G>A ENST00000414097.2 - 6 1246 c.379C>T c.(379-381)Caa>Taa p.Q127* NDRG1_ENST00000323851.7_Nonsense_Mutation_p.Q127*|NDRG1_ENST00000518176.1_Intron|NDRG1_ENST00000537882.1_Nonsense_Mutation_p.Q46*|NDRG1_ENST00000354944.5_Intron|NDRG1_ENST00000522476.1_Nonsense_Mutation_p.Q61*|NDRG1_ENST00000518066.1_Intron NM_001135242.1 NP_001128714.1 Q92597 NDRG1_HUMAN N-myc downstream regulated 1 127 cellular response to hypoxia|response to metal ion cytoplasm|microtubule cytoskeleton|nucleus|plasma membrane protein binding NDRG1/ERG(5) endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(4)|prostate(1)|skin(1) 17 all_epithelial(106;4.26e-24)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0107) CCAAACTGTTGAAGGACTCCA 0.532000 T ERG prostate 68 148 0 0 1 0 0 CARD6 84674 broad.mit.edu 37 5 40852401 40852401 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:40852401G>A ENST00000254691.5 + 3 1166 c.967G>A c.(967-969)Gga>Aga p.G323R CARD6_ENST00000381677.3_Intron NM_032587.3 NP_115976.2 Q9BX69 CARD6_HUMAN caspase recruitment domain family, member 6 323 apoptosis|regulation of apoptosis intracellular NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1) 62 TGAGAGTCCAGGAGACTTAGC 0.443000 24 67 0 0 1 0 0 LY75-CD302 100526664 broad.mit.edu 37 2 160637459 160637459 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:160637459C>T ENST00000504764.1 - 36 5179 c.5152G>A c.(5152-5154)Gat>Aat p.D1718N LY75_ENST00000553424.1_Missense_Mutation_p.D1662N|CD302_ENST00000259053.4_Missense_Mutation_p.D77N|LY75-CD302_ENST00000505052.1_Missense_Mutation_p.D1662N|CD302_ENST00000429078.2_Missense_Mutation_p.D77N|CD302_ENST00000480212.1_5'UTR|LY75_ENST00000554112.1_Missense_Mutation_p.D1718N NM_001198759.1 NP_001185688.1 O60449 LY75_HUMAN 1586 endocytosis|immune response|inflammatory response integral to plasma membrane receptor activity|sugar binding TTCAAAGTATCCAGTATAAAA 0.358000 28 66 0 0 1 0 0 GPR112 139378 broad.mit.edu 37 X 135427267 135427267 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chrX:135427267C>T ENST00000394143.1 + 6 1693 c.1402C>T c.(1402-1404)Cca>Tca p.P468S GPR112_ENST00000412101.1_Missense_Mutation_p.P263S|GPR112_ENST00000287534.4_Missense_Mutation_p.P405S|GPR112_ENST00000394141.1_Missense_Mutation_p.P263S|GPR112_ENST00000370652.1_Missense_Mutation_p.P468S NM_153834.3 NP_722576.3 Q8IZF6 GP112_HUMAN G protein-coupled receptor 112 468 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2) 199 Acute lymphoblastic leukemia(192;0.000127) ATCATCATTCCCACCTGAGCC 0.458000 44 21 0 0 1 0 0 IL21R 50615 broad.mit.edu 37 16 27445730 27445730 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr16:27445730G>A ENST00000337929.3 + 3 585 c.112G>A c.(112-114)Gaa>Aaa p.E38K IL21R_ENST00000395754.4_Missense_Mutation_p.E38K|IL21R_ENST00000395755.1_Missense_Mutation_p.E38K|IL21R_ENST00000564089.1_Missense_Mutation_p.E38K NM_181078.2 NP_851564.1 Q9HBE5 IL21R_HUMAN interleukin 21 receptor 38 natural killer cell activation integral to membrane interleukin-21 receptor activity breast(2)|large_intestine(3)|lung(1)|ovary(2) 8 CTGCATCCTGGAAATGTGGAA 0.622000 T BCL6 NHL 37 47 0 0 1 0 0 ANKRD2 26287 broad.mit.edu 37 10 99338044 99338044 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:99338044C>T ENST00000307518.5 + 3 585 c.318C>T c.(316-318)atC>atT p.I106I ANKRD2_ENST00000370655.1_Silent_p.I79I|ANKRD2_ENST00000298808.5_Silent_p.I106I|ANKRD2_ENST00000455090.1_Silent_p.I79I Q9GZV1 ANKR2_HUMAN ankyrin repeat domain 2 (stretch responsive muscle) 106 muscle contraction|muscle organ development structural constituent of muscle breast(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|stomach(1) 7 all_hematologic(284;1.95e-06)|Colorectal(252;0.0163) Epithelial(162;1.18e-94)|all cancers(201;9.31e-86)|BRCA - Breast invasive adenocarcinoma(275;0.0233)|STAD - Stomach adenocarcinoma(243;0.181)|KIRC - Kidney renal clear cell carcinoma(50;0.206)|Kidney(138;0.241) GGCGGGAGATCATCGATGTGG 0.677000 17 29 0 0 1 0 0 TBC1D9B 23061 broad.mit.edu 37 5 179296779 179296779 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:179296779G>A ENST00000356834.3 - 17 2818 c.2781C>T c.(2779-2781)caC>caT p.H927H TBC1D9B_ENST00000444477.2_Silent_p.H85H|TBC1D9B_ENST00000355235.3_Silent_p.H927H|TBC1D9B_ENST00000519746.1_Silent_p.H103H NM_198868.2 NP_942568.2 Q66K14 TBC9B_HUMAN TBC1 domain family, member 9B (with GRAM domain) 927 integral to membrane|intracellular calcium ion binding|Rab GTPase activator activity breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 28 all_cancers(89;0.000197)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243) all_cancers(40;0.0236)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) CTGGGGGAAGGTGTAGCTTGT 0.622000 17 39 0 0 1 0 0 ZNF208 7757 broad.mit.edu 37 19 22155473 22155473 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:22155473C>T ENST00000397126.4 - 4 2511 c.2363G>A c.(2362-2364)cGa>cAa p.R788Q ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron NM_007153.3 NP_009084.2 zinc finger protein 208 breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 113 all_lung(12;0.0961)|Lung NSC(12;0.103) GATTGCAGATCGGTTAAAAGC 0.368000 4 111 0 0 1 0 0 POU6F2 11281 broad.mit.edu 37 7 39379499 39379499 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:39379499C>T ENST00000518318.2 + 5 812 c.770C>T c.(769-771)tCc>tTc p.S257F POU6F2_ENST00000517348.1_3'UTR|POU6F2_ENST00000403058.1_Missense_Mutation_p.S257F|POU6F2_ENST00000559001.1_Missense_Mutation_p.S249F P78424 PO6F2_HUMAN POU class 6 homeobox 2 257 Gln-rich.|Pro-rich. central nervous system development|ganglion mother cell fate determination|transcription from RNA polymerase II promoter|visual perception sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 42 cactcccactcccagaaccag 0.647000 16 27 0 0 1 0 0 ZBTB6 10773 broad.mit.edu 37 9 125673462 125673462 + Missense_Mutation SNP T T A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:125673462T>A ENST00000373659.3 - 2 978 c.890A>T c.(889-891)tAt>tTt p.Y297F NM_006626.5 NP_006617.1 Q15916 ZBTB6_HUMAN zinc finger and BTB domain containing 6 297 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(1)|skin(1) 11 CCTCAGTGAATAACCTTCCTC 0.438000 46 75 0 0 1 0 0 OIT3 170392 broad.mit.edu 37 10 74692189 74692189 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:74692189G>A ENST00000334011.5 + 9 1763 c.1545G>A c.(1543-1545)cgG>cgA p.R515R NM_152635.1 NP_689848.1 Q8WWZ8 OIT3_HUMAN oncoprotein induced transcript 3 515 ZP. nuclear envelope calcium ion binding autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2) 35 Prostate(51;0.0198) GTTGCCACCGGCGAATGCGTC 0.607000 76 107 0 0 1 0 0 DBX2 440097 broad.mit.edu 37 12 45429881 45429881 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:45429881G>A ENST00000332700.6 - 2 591 c.420C>T c.(418-420)ttC>ttT p.F140F NM_001004329.2 NP_001004329.2 Q6ZNG2 DBX2_HUMAN developing brain homeobox 2 140 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(3)|kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 22 Lung SC(27;0.192) Lung NSC(34;0.142) GBM - Glioblastoma multiforme(48;0.0515) tgctcagaaggaaaggtttgg 0.458000 10 14 0 0 1 0 0 FNDC7 163479 broad.mit.edu 37 1 109273454 109273454 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:109273454G>A ENST00000370017.3 + 9 2060 c.1783G>A c.(1783-1785)Gga>Aga p.G595R FNDC7_ENST00000271311.2_Missense_Mutation_p.G596R NM_001144937.1 NP_001138409.1 Q5VTL7 FNDC7_HUMAN fibronectin type III domain containing 7 596 Fibronectin type-III 7. extracellular region breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|skin(4)|stomach(1)|urinary_tract(1) 20 all_lung(203;0.00439)|Lung NSC(277;0.00683)|all_epithelial(167;0.00728) Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.173)|all cancers(265;0.244) CTGCCTCCTAGGATGCATCAC 0.463000 10 117 0 0 1 0 0 WIBG 84305 broad.mit.edu 37 12 56296055 56296055 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:56296055G>A ENST00000408946.2 - 3 367 c.216C>T c.(214-216)acC>acT p.T72T WIBG_ENST00000547925.1_3'UTR|WIBG_ENST00000398213.4_Silent_p.T71T|WIBG_ENST00000557259.1_3'UTR|WIBG_ENST00000302533.6_5'UTR NM_032345.2 NP_115721.1 Q9BRP8 WIBG_HUMAN within bgcn homolog (Drosophila) 72 nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation cytoplasm|exon-exon junction complex|nucleolus|nucleoplasm protein binding|ribosome binding|RNA binding central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2) 5 GCCTGGATGGGGTGACAGGAG 0.527000 30 73 0 0 1 0 0 ZNF385D 79750 broad.mit.edu 37 3 21478604 21478604 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:21478604C>T ENST00000281523.2 - 5 1049 c.531G>A c.(529-531)gtG>gtA p.V177V ZNF385D_ENST00000494118.1_5'UTR NM_024697.2 NP_078973.1 Q9H6B1 Z385D_HUMAN zinc finger protein 385D 177 Thr-rich. nucleus nucleic acid binding|zinc ion binding NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4) 46 GGCTTTTTTCCACTTTAGAGG 0.468000 47 105 0 0 1 0 0 SYT1 6857 broad.mit.edu 37 12 79689871 79689871 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:79689871C>T ENST00000261205.4 + 7 1154 c.497C>T c.(496-498)gCt>gTt p.A166V SYT1_ENST00000457153.2_Missense_Mutation_p.A163V|SYT1_ENST00000393240.3_Missense_Mutation_p.A166V|SYT1_ENST00000552744.1_Missense_Mutation_p.A166V NM_005639.2 NP_005630.1 P21579 SYT1_HUMAN synaptotagmin I 166 C2 1.|Phospholipid binding (Probable). detection of calcium ion|glutamate secretion|neurotransmitter secretion|protein homooligomerization cell junction|chromaffin granule membrane|clathrin sculpted acetylcholine transport vesicle membrane|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|clathrin sculpted glutamate transport vesicle membrane|clathrin sculpted monoamine transport vesicle membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane 1-phosphatidylinositol binding|low-density lipoprotein particle receptor binding|metal ion binding|syntaxin-1 binding|transporter activity NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|pancreas(2)|skin(6) 25 ATCATTCAGGCTGCCGAACTG 0.433000 42 61 0 0 1 0 0 SAMD9 54809 broad.mit.edu 37 7 92733706 92733706 + Nonsense_Mutation SNP C C A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:92733706C>A ENST00000379958.2 - 3 1974 c.1705G>T c.(1705-1707)Gga>Tga p.G569* NM_001193307.1|NM_017654.3 NP_001180236.1|NP_060124.2 Q5K651 SAMD9_HUMAN sterile alpha motif domain containing 9 569 cytoplasm NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 88 all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125) STAD - Stomach adenocarcinoma(171;0.000302) TTTTCCATTCCTTTGAGATCC 0.388000 78 150 6.86016e-32 6.94209e-32 1 1 0 TRBV6-4 28603 broad.mit.edu 37 7 142250773 142250773 + RNA SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:142250773C>T ENST00000390360.3 - 0 294 AGGGGGAAATCATCTGTGTTT 0.512000 72 166 0 0 1 0 0 OR4F6 390648 broad.mit.edu 37 15 102346273 102346273 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr15:102346273C>T ENST00000328882.4 + 1 372 c.351C>T c.(349-351)gcC>gcT p.A117A NM_001005326.1 NP_001005326.1 Q8NGB9 OR4F6_HUMAN olfactory receptor, family 4, subfamily F, member 6 117 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|large_intestine(1)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 22 Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505) OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187) TGCTCATAGCCATGGCTTTTG 0.453000 111 257 0 0 1 0 0 LAMB1 3912 broad.mit.edu 37 7 107626521 107626521 + Missense_Mutation SNP G G A rs142924307 TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:107626521G>A ENST00000393561.1 - 5 878 c.694C>T c.(694-696)Cgt>Tgt p.R232C LAMB1_ENST00000393560.1_Missense_Mutation_p.R208C|LAMB1_ENST00000222399.6_Missense_Mutation_p.R208C P07942 LAMB1_HUMAN laminin, beta 1 208 Laminin N-terminal. axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm extracellular matrix structural constituent NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3) 82 Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) TCTAAAGCACGAAATATCACC 0.313000 20 82 0 0 1 0 0 CLEC14A 161198 broad.mit.edu 37 14 38724859 38724859 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr14:38724859G>A ENST00000342213.2 - 1 715 c.369C>T c.(367-369)ctC>ctT p.L123L NM_175060.2 NP_778230.1 Q86T13 CLC14_HUMAN C-type lectin domain family 14, member A 123 C-type lectin. integral to membrane sugar binding breast(1)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 33 Hepatocellular(127;0.213)|Esophageal squamous(585;0.22) Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187) GBM - Glioblastoma multiforme(112;0.00439) TGTCGCTTTCGAGACCGCCGG 0.687000 13 23 0 0 1 0 0 CRYBG3 131544 broad.mit.edu 37 3 97596032 97596032 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:97596032C>T ENST00000182096.4 + 1 214 c.150C>T c.(148-150)tcC>tcT p.S50S NM_153605.3 NP_705833.3 beta-gamma crystallin domain containing 3 breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(10)|stomach(1)|upper_aerodigestive_tract(2) 32 AAAATTCTTCCTTTACTATAT 0.383000 29 66 0 0 1 0 0 MYH15 22989 broad.mit.edu 37 3 108129494 108129494 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:108129494C>T ENST00000273353.3 - 32 4547 c.4491G>A c.(4489-4491)aaG>aaA p.K1497K NM_014981.1 NP_055796.1 Q9Y2K3 MYH15_HUMAN myosin, heavy chain 15 1497 myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 105 CATAGGTGTTCTTGAGCTTGA 0.577000 46 97 0 0 1 0 0 PCDHGA2 56113 broad.mit.edu 37 5 140720095 140720095 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:140720095C>T ENST00000394576.2 + 1 1557 c.1557C>T c.(1555-1557)tcC>tcT p.S519S PCDHGA1_ENST00000517417.1_Intron NM_018915.2 NP_061738.1 breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 77 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CACTGCGCTCCTTTGATTATG 0.507000 57 135 0 0 1 0 0 UNC13C 440279 broad.mit.edu 37 15 54307601 54307601 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr15:54307601G>A ENST00000545554.1 + 1 2501 c.2501G>A c.(2500-2502)cGg>cAg p.R834Q UNC13C_ENST00000260323.11_Missense_Mutation_p.R834Q|UNC13C_ENST00000537900.1_Missense_Mutation_p.R834Q Q8NB66 UN13C_HUMAN unc-13 homolog C (C. elegans) 834 exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding p.R834Q(2) breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4) 121 GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124) GGGAGATTTCGGACATTATCT 0.438000 14 46 0 0 1 0 0 KIAA1958 158405 broad.mit.edu 37 9 115421546 115421546 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:115421546C>T ENST00000337530.6 + 4 1644 c.1348C>T c.(1348-1350)Cct>Tct p.P450S KIAA1958_ENST00000536272.1_Missense_Mutation_p.P478S NM_133465.2 NP_597722.1 Q8N8K9 K1958_HUMAN KIAA1958 450 endometrium(1)|large_intestine(9)|lung(10)|prostate(2)|skin(3) 25 ATTTGAGATCCCTGCAGTGAA 0.532000 54 83 0 0 1 0 0 BUB1 699 broad.mit.edu 37 2 111408297 111408297 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:111408297G>A ENST00000535254.1 - 17 2036 c.1969C>T c.(1969-1971)Cgt>Tgt p.R657C BUB1_ENST00000409311.1_Missense_Mutation_p.R677C|BUB1_ENST00000302759.6_Missense_Mutation_p.R677C NM_001278616.1 NP_001265545.1 O43683 BUB1_HUMAN BUB1 mitotic checkpoint serine/threonine kinase 677 apoptosis|cell division|chromosome segregation|interspecies interaction between organisms|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|regulation of sister chromatid cohesion condensed chromosome kinetochore|cytosol ATP binding|protein binding|protein serine/threonine kinase activity breast(3)|endometrium(8)|kidney(4)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|stomach(1) 45 Ovarian(717;0.0822) BRCA - Breast invasive adenocarcinoma(221;0.0556) TGGCTCAGACGAAGTAAGGAT 0.502000 35 55 0 0 1 0 0 ANKRD36C 400986 broad.mit.edu 37 2 96581736 96581736 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:96581736G>A ENST00000456556.1 - 38 2525 c.2441C>T c.(2440-2442)tCt>tTt p.S814F ANKRD36C_ENST00000419039.2_5'UTR|ANKRD36C_ENST00000420871.2_5'UTR|ANKRD36C_ENST00000295246.5_5'UTR ankyrin repeat domain 36C breast(1)|endometrium(8)|kidney(5)|lung(4) 18 ACCTGTCCTAGATATTTCTCC 0.358000 4 4 0 0 1 0 0 CHRM3 1131 broad.mit.edu 37 1 240071544 240071544 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:240071544C>T ENST00000255380.4 + 5 1572 c.793C>T c.(793-795)Ctt>Ttt p.L265F NM_000740.2 NP_000731.1 P20309 ACM3_HUMAN cholinergic receptor, muscarinic 3 265 cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1) 51 Ovarian(103;0.127) all_cancers(173;0.00567)|all_neural(198;0.203) OV - Ovarian serous cystadenocarcinoma(106;0.00989) Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505) TACCAAAGAGCTTGCTGGCCT 0.473000 18 103 0 0 1 0 0 PTPRN2 5799 broad.mit.edu 37 7 157926403 157926403 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:157926403C>T ENST00000389413.3 - 9 1625 c.1522G>A c.(1522-1524)Gaa>Aaa p.E508K PTPRN2_ENST00000404321.2_Missense_Mutation_p.E531K|PTPRN2_ENST00000389416.4_Missense_Mutation_p.E491K|PTPRN2_ENST00000409483.1_Missense_Mutation_p.E470K|PTPRN2_ENST00000389418.4_Missense_Mutation_p.E508K NM_130843.2 NP_570858.2 Q92932 PTPR2_HUMAN protein tyrosine phosphatase, receptor type, N polypeptide 2 508 integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1) 86 all_neural(206;0.181) all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132) OV - Ovarian serous cystadenocarcinoma(82;0.00463) STAD - Stomach adenocarcinoma(7;0.0875) CGCGCCTCTTCCTCGGAAGGC 0.642000 47 122 0 0 1 0 0 GPBP1L1 60313 broad.mit.edu 37 1 46120481 46120481 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:46120481G>A ENST00000355105.3 - 6 1571 c.211C>T c.(211-213)Ctg>Ttg p.L71L GPBP1L1_ENST00000290795.3_Silent_p.L71L NM_021639.4 NP_067652.1 Q9HC44 GPBL1_HUMAN GC-rich promoter binding protein 1-like 1 71 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding GPBP1L1/MAST2_ENST00000361297(2) breast(1)|endometrium(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|stomach(1) 21 Acute lymphoblastic leukemia(166;0.155) TGGCGGAACAGGGAGGGCTGG 0.478000 16 33 0 0 1 0 0 CCDC74B 91409 broad.mit.edu 37 2 130900882 130900882 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:130900882G>A ENST00000310463.6 - 2 392 c.255C>T c.(253-255)ctC>ctT p.L85L CCDC74B_ENST00000409943.3_Silent_p.L85L|CCDC74B_ENST00000409234.3_Silent_p.L85L|CCDC74B_ENST00000392984.3_5'UTR|CCDC74B_ENST00000409128.1_Silent_p.L127L NM_207310.2 NP_997193.1 Q96LY2 CC74B_HUMAN coiled-coil domain containing 74B 85 endometrium(2)|large_intestine(1)|lung(3) 6 Colorectal(110;0.1) GCTTGTAACGGAGATCTGAAA 0.542000 35 91 0 0 1 0 0 TRRAP 8295 broad.mit.edu 37 7 98574225 98574225 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:98574225C>T ENST00000359863.4 + 54 8267 c.8058C>T c.(8056-8058)atC>atT p.I2686I TRRAP_ENST00000355540.3_Silent_p.I2668I|TRRAP_ENST00000446306.3_Silent_p.I2668I NM_001244580.1 NP_001231509.1 Q9Y4A5 TRRAP_HUMAN transformation/transcription domain-associated protein 2686 histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2) 176 all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274) STAD - Stomach adenocarcinoma(171;0.215) TGCCGCCAATCCCCATCCGAC 0.602000 20 148 0 0 1 0 0 BRD4 23476 broad.mit.edu 37 19 15349918 15349918 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:15349918G>A ENST00000263377.2 - 18 3955 c.3734C>T c.(3733-3735)gCc>gTc p.A1245V NM_058243.2 NP_490597.1 O60885 BRD4_HUMAN bromodomain containing 4 1245 interspecies interaction between organisms|positive regulation of G2/M transition of mitotic cell cycle|positive regulation of transcription elongation from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle condensed nuclear chromosome|cytoplasm protein binding breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1) 21 OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18) AGCGTGCTCGGCCTGAGCCTT 0.672000 T C15orf55 lethal midline carcinoma of young people 8 14 0 0 1 0 0 ZNF33A 7581 broad.mit.edu 37 10 38305852 38305852 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:38305852C>T ENST00000374618.3 + 3 241 c.63C>T c.(61-63)ttC>ttT p.F21F ZNF33A_ENST00000432900.2_Silent_p.F28F|ZNF33A_ENST00000469037.2_Silent_p.F21F|ZNF33A_ENST00000307441.9_Silent_p.F21F|ZNF33A_ENST00000476504.1_3'UTR|ZNF33A_ENST00000458705.2_Silent_p.F21F NM_001278170.1|NM_001278171.1|NM_001278173.1|NM_001278174.1|NM_001278175.1|NM_001278176.1|NM_001278177.1|NM_001278178.1|NM_001278179.1|NM_006954.1|NM_006974.2 NP_001265099.1|NP_001265100.1|NP_001265102.1|NP_001265103.1|NP_001265104.1|NP_001265105.1|NP_001265106.1|NP_001265107.1|NP_001265108.1|NP_008885.1|NP_008905.1 Q06730 ZN33A_HUMAN zinc finger protein 33A 21 KRAB. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding cervix(2)|endometrium(2)|large_intestine(8)|liver(2)|lung(27)|ovary(2)|prostate(1)|skin(2) 46 CTGTGGGCTTCACCCAGGAGG 0.473000 35 83 0 0 1 0 0 TUBAL3 79861 broad.mit.edu 37 10 5436272 5436272 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:5436272C>T ENST00000380419.3 - 4 586 c.549G>A c.(547-549)agG>agA p.R183R TUBAL3_ENST00000479328.1_Silent_p.R143R NM_024803.2 NP_079079.1 A6NHL2 TBAL3_HUMAN tubulin, alpha-like 3 183 microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|structural molecule activity breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(7)|prostate(2)|skin(3) 25 CAGTGGAGATCCTGGGGGCTG 0.537000 35 67 0 0 1 0 0 ZDBF2 57683 broad.mit.edu 37 2 207170179 207170179 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:207170179C>T ENST00000374423.3 + 5 1313 c.927C>T c.(925-927)aaC>aaT p.N309N NM_020923.1 NP_065974.1 Q9HCK1 ZDBF2_HUMAN zinc finger, DBF-type containing 2 309 nucleic acid binding|zinc ion binding endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 95 TAGCAGTAAACCCGAATAAAA 0.373000 16 43 0 0 1 0 0 RPS7 6201 broad.mit.edu 37 2 3628396 3628396 + Splice_Site SNP T T C TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:3628396T>C ENST00000304921.5 + 7 673 c.507_splice c.e7-1 p.V170_splice RPS7_ENST00000406376.1_Splice_Site_p.V170_splice|RPS7_ENST00000403564.1_Splice_Site_p.V170_splice NM_001011.3 NP_001002.1 P62081 RS7_HUMAN ribosomal protein S7 170 endocrine pancreas development|ribosomal small subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription 90S preribosome|cytosolic small ribosomal subunit|nucleolus|small-subunit processome protein binding|RNA binding|structural constituent of ribosome endometrium(1)|lung(2)|urinary_tract(1) 4 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093) OV - Ovarian serous cystadenocarcinoma(76;0.0963)|Epithelial(75;0.208) TTCTTGTAGGTTGAAACTTTT 0.323000 21 40 0 0 1 0 0 SLC5A8 160728 broad.mit.edu 37 12 101577949 101577949 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:101577949C>T ENST00000536262.2 - 8 1573 c.1015G>A c.(1015-1017)Gga>Aga p.G339R NM_145913.3 NP_666018.3 Q8N695 SC5A8_HUMAN solute carrier family 5 (sodium/monocarboxylate cotransporter), member 8 339 apoptosis|sodium ion transport apical plasma membrane|integral to membrane monocarboxylic acid transmembrane transporter activity|passive transmembrane transporter activity|symporter activity breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 47 ACAAAAAGTCCAGGAAGTCCT 0.353000 31 63 0 0 1 0 0 FAM35A 54537 broad.mit.edu 37 10 88911163 88911163 + Silent SNP C C T rs149664987 TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:88911163C>T ENST00000298786.4 + 3 166 c.52C>T c.(52-54)Ctg>Ttg p.L18L FAM35A_ENST00000298784.1_Silent_p.L18L Q86V20 FA35A_HUMAN family with sequence similarity 35, member A 18 endometrium(2)|kidney(2)|large_intestine(5)|lung(1)|ovary(2)|prostate(2)|skin(2) 16 AATTGCTCCACTGAAAATCAC 0.343000 31 52 0 0 1 0 0 CBL 867 broad.mit.edu 37 11 119170471 119170471 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:119170471C>T ENST00000264033.4 + 16 3077 c.2701C>T c.(2701-2703)Cct>Tct p.P901S NM_005188.3 NP_005179.2 P22681 CBL_HUMAN Cbl proto-oncogene, E3 ubiquitin protein ligase 901 Interaction with CD2AP. epidermal growth factor receptor signaling pathway|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of receptor-mediated endocytosis cytosol|nucleus calcium ion binding|sequence-specific DNA binding transcription factor activity|SH3 domain binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(194)|kidney(3)|large_intestine(9)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 251 Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;4.92e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.000784) CATTTCTTCTCCTGCCCATGT 0.502000 """T, Mis S, O""" MLL """AML, JMML, MDS""" Noonan syndrome;CBL gene-associated Juvenile Myelomonocytic Leukemia and Developmental Anomalies 6 333 0 0 1 0 0 DSC2 1824 broad.mit.edu 37 18 28667705 28667705 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr18:28667705C>T ENST00000280904.6 - 6 1145 c.702G>A c.(700-702)gaG>gaA p.E234E DSC2_ENST00000251081.6_Silent_p.E234E NM_024422.3 NP_077740.1 Q02487 DSC2_HUMAN desmocollin 2 234 Cadherin 1. homophilic cell adhesion desmosome|integral to membrane calcium ion binding endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1) 21 OV - Ovarian serous cystadenocarcinoma(10;0.0241) CATTTTCATCCTCTATTTTGA 0.343000 30 74 0 0 1 0 0 MYO1H 283446 broad.mit.edu 37 12 109844596 109844596 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:109844596C>T ENST00000310903.5 + 9 1024 c.918C>T c.(916-918)ctC>ctT p.L306L MYO1H_ENST00000542883.1_3'UTR|MYO1H_ENST00000431443.2_Silent_p.L306L B4DNW6 B4DNW6_HUMAN myosin IH 0 myosin complex motor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(17)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 47 ACATGCAGCTCCTGGGGGTCC 0.433000 22 71 0 0 1 0 0 PRR15 222171 broad.mit.edu 37 7 29606113 29606113 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:29606113C>T ENST00000319694.2 + 2 880 c.168C>T c.(166-168)tcC>tcT p.S56S NM_175887.2 NP_787083.1 Q8IV56 PRR15_HUMAN proline rich 15 56 multicellular organismal development endometrium(1)|lung(1)|skin(1) 3 CCAGCAGCTCCCGGGAGAACC 0.701000 4 27 0 0 1 0 0 OTOF 9381 broad.mit.edu 37 2 26689628 26689628 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:26689628G>A ENST00000272371.2 - 36 4580 c.4454C>T c.(4453-4455)cCg>cTg p.P1485L OTOF_ENST00000339598.3_Missense_Mutation_p.P718L|OTOF_ENST00000402415.3_Missense_Mutation_p.P795L|OTOF_ENST00000338581.6_Missense_Mutation_p.P718L|OTOF_ENST00000403946.3_Missense_Mutation_p.P1485L NM_194248.2 NP_919224.1 Q9HC10 OTOF_HUMAN otoferlin 1485 C2 4. cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane calcium ion binding NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 106 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GTCATTGCTCGGGATGCCCTG 0.612000 41 66 0 0 1 0 0 AP3B2 8120 broad.mit.edu 37 15 83350243 83350243 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr15:83350243G>A ENST00000261722.3 - 5 657 c.450C>T c.(448-450)atC>atT p.I150I AP3B2_ENST00000535348.1_Silent_p.I118I|RP11-752G15.3_ENST00000560650.1_RNA|AP3B2_ENST00000535359.1_Silent_p.I150I NM_004644.3 NP_004635.2 Q13367 AP3B2_HUMAN adaptor-related protein complex 3, beta 2 subunit 150 endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport clathrin coated vesicle membrane|COPI-coated vesicle|membrane coat binding|protein transporter activity breast(4)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(2) 41 BRCA - Breast invasive adenocarcinoma(143;0.229) CGGCTTCCTTGATAGCTAGCA 0.577000 20 46 0 0 1 0 0 C4orf17 84103 broad.mit.edu 37 4 100443831 100443831 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:100443831C>T ENST00000514652.1 + 3 656 c.302C>T c.(301-303)cCa>cTa p.P101L C4orf17_ENST00000326581.4_Missense_Mutation_p.P101L|C4orf17_ENST00000503257.1_3'UTR Q53FE4 CD017_HUMAN chromosome 4 open reading frame 17 101 central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|urinary_tract(3) 18 OV - Ovarian serous cystadenocarcinoma(123;2.08e-08) TCGCCAGCCCCAAACGGTGCC 0.507000 42 56 0 0 1 0 0 WNK1 65125 broad.mit.edu 37 12 994787 994787 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:994787C>T ENST00000537687.1 + 19 6240 c.5597C>T c.(5596-5598)cCt>cTt p.P1866L WNK1_ENST00000530271.2_Missense_Mutation_p.P2104L|WNK1_ENST00000315939.6_Missense_Mutation_p.P1606L|WNK1_ENST00000535572.1_Missense_Mutation_p.P1359L|WNK1_ENST00000340908.4_Missense_Mutation_p.P1199L NM_001184985.1|NM_213655.4 NP_001171914.1|NP_998820.3 Q9H4A3 WNK1_HUMAN WNK lysine deficient protein kinase 1 1606 intracellular protein kinase cascade|ion transport|neuron development cytoplasm ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2) 104 all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632) Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197) TTGGTACAGCCTGTTGCCAAT 0.483000 84 154 0 0 1 0 0 SLC39A12 221074 broad.mit.edu 37 10 18266997 18266997 + Nonsense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:18266997G>A ENST00000377369.2 + 5 1191 c.918G>A c.(916-918)tgG>tgA p.W306* SLC39A12_ENST00000377371.3_Nonsense_Mutation_p.W306*|SLC39A12_ENST00000377374.4_Nonsense_Mutation_p.W306*|SLC39A12_ENST00000539911.1_Nonsense_Mutation_p.W172* NM_001145195.1 NP_001138667.1 Q504Y0 S39AC_HUMAN solute carrier family 39 (zinc transporter), member 12 306 zinc ion transport integral to membrane metal ion transmembrane transporter activity NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 60 CAGTTTCCTGGGATCAGGTAT 0.363000 42 73 0 0 1 0 0 MEOX2 4223 broad.mit.edu 37 7 15652156 15652156 + Missense_Mutation SNP C C G TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:15652156C>G ENST00000262041.5 - 3 1180 c.771G>C c.(769-771)aaG>aaC p.K257N NM_005924.4 NP_005915.2 P50222 MEOX2_HUMAN mesenchyme homeobox 2 257 blood circulation|multicellular organismal development cytoplasm|nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 24 UCEC - Uterine corpus endometrioid carcinoma (126;0.0822) TCACCAGTTCCTTTTCCCGAG 0.512000 36 104 0 0 1 0 0 MIR519A1 574496 broad.mit.edu 37 19 54255701 54255701 + RNA SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:54255701G>A ENST00000385257.1 + 0 51 NR_030218.1 CTGAAAGAAAGGAAAGTGCAT 0.418000 66 131 0 0 1 0 0 ACVR2B 93 broad.mit.edu 37 3 38518806 38518806 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:38518806G>A ENST00000352511.3 + 2 553 c.81G>A c.(79-81)cgG>cgA p.R27R NM_001106.3 NP_001097.2 Q13705 AVR2B_HUMAN activin A receptor, type IIB 27 activin receptor signaling pathway|anterior/posterior pattern formation|BMP signaling pathway|positive regulation of activin receptor signaling pathway|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|regulation of transcription, DNA-dependent cell surface|cytoplasm|integral to plasma membrane activin receptor activity|ATP binding|growth factor binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|transforming growth factor beta receptor activity lung(1) 1 Medulloblastoma(35;0.163) KIRC - Kidney renal clear cell carcinoma(284;0.0565)|Kidney(284;0.071) CTGAGACACGGGAGTGCATCT 0.637000 22 66 0 0 1 0 0 JPH1 56704 broad.mit.edu 37 8 75157114 75157114 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:75157114G>A ENST00000342232.4 - 4 1595 c.1555C>T c.(1555-1557)Ccc>Tcc p.P519S NM_020647.2 NP_065698.1 Q9HDC5 JPH1_HUMAN junctophilin 1 519 calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity integral to membrane|junctional membrane complex|junctional sarcoplasmic reticulum membrane|plasma membrane endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(2) 24 Breast(64;0.00576) BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176) TCCTTCGTGGGAGCCTTTGAC 0.577000 42 102 0 0 1 0 0 LDLRAD3 143458 broad.mit.edu 37 11 36248959 36248959 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:36248959C>T ENST00000315571.5 + 5 800 c.779C>T c.(778-780)tCc>tTc p.S260F LDLRAD3_ENST00000528989.1_Missense_Mutation_p.S211F|LDLRAD3_ENST00000529759.1_3'UTR|LDLRAD3_ENST00000524419.1_Missense_Mutation_p.S250F NM_174902.2 NP_777562.1 Q86YD5 LRAD3_HUMAN low density lipoprotein receptor class A domain containing 3 260 integral to membrane receptor activity central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(7)|skin(1) 28 all_lung(20;0.089)|Lung NSC(22;0.175)|all_epithelial(35;0.177) all_hematologic(20;0.124) CCCTCCTACTCCGAGGCCTTG 0.582000 9 95 0 0 1 0 0 CENPE 1062 broad.mit.edu 37 4 104059595 104059595 + Missense_Mutation SNP G G C TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:104059595G>C ENST00000265148.3 - 39 6305 c.6216C>G c.(6214-6216)aaC>aaG p.N2072K CENPE_ENST00000380026.3_Missense_Mutation_p.N1951K NM_001813.2 NP_001804.2 Q02224 CENPE_HUMAN centromere protein E, 312kDa 2072 blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle ATP binding|kinetochore binding|microtubule motor activity NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3) 101 OV - Ovarian serous cystadenocarcinoma(123;2.95e-08) TTACTTGGTGGTTCTGTCGGT 0.378000 58 159 0 0 1 0 0 LCT 3938 broad.mit.edu 37 2 136567502 136567502 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:136567502G>A ENST00000264162.2 - 8 2425 c.2415C>T c.(2413-2415)ttC>ttT p.F805F NM_002299.2 NP_002290.2 P09848 LPH_HUMAN lactase 805 4 X approximate repeats. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|integral to plasma membrane|membrane fraction cation binding|glycosylceramidase activity|lactase activity p.F805F(1) breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4) 124 BRCA - Breast invasive adenocarcinoma(221;0.169) AAGGGCCTTCGAAGCCATCAA 0.448000 35 76 0 0 1 0 0 FAM65B 9750 broad.mit.edu 37 6 24873168 24873168 + Nonsense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:24873168G>A ENST00000259698.4 - 4 452 c.277C>T c.(277-279)Cag>Tag p.Q93* FAM65B_ENST00000510784.2_Nonsense_Mutation_p.Q127*|FAM65B_ENST00000540914.1_Nonsense_Mutation_p.Q93*|FAM65B_ENST00000378023.4_Nonsense_Mutation_p.Q93*|FAM65B_ENST00000538035.1_Nonsense_Mutation_p.Q122* NM_014722.2 NP_055537.2 Q9Y4F9 FA65B_HUMAN family with sequence similarity 65, member B 93 Involved in cell filopodia formation. cell differentiation|muscle organ development cytoskeleton|filopodium|mitochondrion binding breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 25 AGCTCCGTCTGGTGAACCTCC 0.418000 20 116 0 0 1 0 0 CHRNA4 1137 broad.mit.edu 37 20 61981283 61981283 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr20:61981283G>A ENST00000370263.4 - 5 1701 c.1480C>T c.(1480-1482)Ccc>Tcc p.P494S CHRNA4_ENST00000463705.1_5'UTR NM_000744.6|NM_001256573.1 NP_000735.1|NP_001243502.1 P43681 ACHA4_HUMAN cholinergic receptor, nicotinic, alpha 4 (neuronal) 494 B cell activation|behavioral response to nicotine|calcium ion transport|cognition|DNA repair|membrane depolarization|regulation of action potential|regulation of dopamine secretion|regulation of inhibitory postsynaptic membrane potential|response to hypoxia|response to oxidative stress|sensory perception of pain|synaptic transmission, cholinergic cell junction|dendrite|external side of plasma membrane|membrane fraction|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(19)|prostate(3)|skin(3)|soft_tissue(1) 33 all_cancers(38;1.71e-10) Nicotine(DB00184)|Varenicline(DB01273) TCGTCTCGGGGAACACAGTAC 0.701000 8 9 0 0 1 0 0 COL19A1 1310 broad.mit.edu 37 6 70878099 70878099 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:70878099G>A ENST00000322773.4 + 39 2635 c.2533G>A c.(2533-2535)Ggt>Agt p.G845S COL19A1_ENST00000393344.1_Missense_Mutation_p.G467S NM_001858.4 NP_001849.2 Q14993 COJA1_HUMAN collagen, type XIX, alpha 1 845 Triple-helical region 5 (COL5). cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development collagen extracellular matrix structural constituent|protein binding, bridging breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2) 109 AGGGCCACCCGGTCCTCCTGT 0.373000 18 52 0 0 1 0 0 TAF9 6880 broad.mit.edu 37 5 68661433 68661433 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:68661433G>A ENST00000328663.4 - 3 598 c.132C>T c.(130-132)ttC>ttT p.F44F TAF9_ENST00000512561.1_Intron|TAF9_ENST00000506736.1_Silent_p.F44F|TAF9_ENST00000217893.5_Silent_p.F44F|TAF9_ENST00000380822.4_Intron|TAF9_ENST00000380818.3_Intron|TAF9_ENST00000502819.1_Intron NM_001015892.1 NP_001015892.1 Q9Y3D8 KAD6_HUMAN TAF9 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 32kDa 0 Cajal body adenylate kinase activity|ATP binding|protein binding p.F44L(1) central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(4)|urinary_tract(1) 8 Lung NSC(167;7.26e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;1.1e-56)|Epithelial(20;9.54e-53)|all cancers(19;2.2e-48)|Lung(70;0.0176) TCACATATCGGAAGGCAAACT 0.418000 79 111 0 0 1 0 0 HBG1 3047 broad.mit.edu 37 11 5269711 5269711 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:5269711C>T ENST00000330597.3 - 3 409 c.322G>A c.(322-324)Gga>Aga p.G108R NM_000559.2 NP_000550.2 P69891 HBG1_HUMAN hemoglobin, gamma A 108 blood coagulation hemoglobin complex heme binding|oxygen binding|oxygen transporter activity|protein binding large_intestine(1)|lung(3)|skin(1) 5 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) AGCACATTTCCCAGGAGCTGT 0.522000 6 41 0 0 1 0 0 SEZ6L 23544 broad.mit.edu 37 22 26688625 26688625 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr22:26688625G>A ENST00000529632.2 + 2 544 c.348G>A c.(346-348)aaG>aaA p.K116K SEZ6L_ENST00000248933.6_Silent_p.K116K|SEZ6L_ENST00000402979.1_5'UTR|SEZ6L_ENST00000403121.1_5'UTR|SEZ6L_ENST00000343706.4_Silent_p.K116K|SEZ6L_ENST00000404234.3_Silent_p.K116K|SEZ6L_ENST00000360929.3_Silent_p.K116K NM_001184774.1|NM_001184775.1|NM_001184777.1 NP_001171703.1|NP_001171704.1|NP_001171706.1 Q9BYH1 SE6L1_HUMAN seizure related 6 homolog (mouse)-like 116 endoplasmic reticulum membrane|integral to membrane breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 80 TGCCCCCCAAGAAGAAACTGC 0.647000 10 40 0 0 1 0 0 SCN11A 11280 broad.mit.edu 37 3 38991730 38991730 + Missense_Mutation SNP C C T rs146234630 TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:38991730C>T ENST00000302328.3 - 1 322 c.124G>A c.(124-126)Gac>Aac p.D42N SCN11A_ENST00000444237.2_Missense_Mutation_p.D42N|SCN11A_ENST00000456224.3_Missense_Mutation_p.D42N|SCN11A_ENST00000450244.1_Missense_Mutation_p.D42N NM_014139.2 NP_054858.2 Q9UI33 SCNBA_HUMAN sodium channel, voltage-gated, type XI, alpha subunit 42 response to drug voltage-gated sodium channel complex voltage-gated sodium channel activity NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3) 119 Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226) Cocaine(DB00907) CCTGTCTGGTCTTTAGACTTC 0.517000 84 155 0 0 1 0 0 C1RL 51279 broad.mit.edu 37 12 7249075 7249075 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:7249075C>T ENST00000266542.4 - 6 1468 c.1376G>A c.(1375-1377)gGc>gAc p.G459D C1RL_ENST00000504702.2_Intron|C1RL_ENST00000544702.1_3'UTR|C1RL_ENST00000545280.1_Intron NM_016546.2 NP_057630.2 Q9NZP8 C1RL_HUMAN complement component 1, r subcomponent-like 459 Peptidase S1. complement activation, classical pathway|innate immune response|proteolysis serine-type endopeptidase activity breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 ACACCCTATGCCCCAGGACAC 0.562000 38 72 0 0 1 0 0 IL2RB 3560 broad.mit.edu 37 22 37524403 37524403 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr22:37524403G>A ENST00000216223.5 - 10 1587 c.1389C>T c.(1387-1389)gtC>gtT p.V463V NM_000878.3 NP_000869.1 P14784 IL2RB_HUMAN interleukin 2 receptor, beta 463 interspecies interaction between organisms|positive regulation of survival gene product expression|protein complex assembly external side of plasma membrane|integral to plasma membrane interleukin-2 receptor activity breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(5) 23 Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004) AGTCTCTGGGGACTCTTTCTT 0.677000 7 51 0 0 1 0 0 ARVCF 421 broad.mit.edu 37 22 19978276 19978276 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr22:19978276G>A ENST00000263207.3 - 3 333 c.42C>T c.(40-42)gcC>gcT p.A14A ARVCF_ENST00000406259.1_Silent_p.A14A NM_001670.2 NP_001661.1 O00192 ARVC_HUMAN armadillo repeat gene deleted in velocardiofacial syndrome 14 cell adhesion|multicellular organismal development protein binding NS(1)|cervix(1)|endometrium(3)|liver(1)|lung(4)|prostate(1)|urinary_tract(2) 13 Colorectal(54;0.0993) CCTTCACCGAGGCCAGGATGC 0.667000 8 14 0 0 1 0 0 CYP4F2 8529 broad.mit.edu 37 19 16000317 16000317 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:16000317G>A ENST00000221700.5 - 7 929 c.834C>T c.(832-834)ctC>ctT p.L278L CYP4F2_ENST00000592328.1_Silent_p.L278L|CYP4F2_ENST00000011989.7_Silent_p.L129L NM_001082.3 NP_001073.3 P78329 CP4F2_HUMAN cytochrome P450, family 4, subfamily F, polypeptide 2 278 leukotriene metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 46 CCTGGCTAGGGAGAGTGCGGC 0.582000 22 142 0 0 1 0 0 FMO1 2326 broad.mit.edu 37 1 171251278 171251278 + Missense_Mutation SNP G G A rs149030329 byFrequency TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:171251278G>A ENST00000354841.4 + 6 1120 c.989G>A c.(988-990)gGa>gAa p.G330E FMO1_ENST00000367750.3_Missense_Mutation_p.G330E|FMO1_ENST00000402921.2_Missense_Mutation_p.G267E|FMO1_ENST00000469112.1_3'UTR Q01740 FMO1_HUMAN flavin containing monooxygenase 1 330 NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process endoplasmic reticulum lumen|integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(2)|skin(2) 27 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) TTTGCCACTGGATACACATTT 0.413000 60 144 0 0 1 0 0 OR2S2 56656 broad.mit.edu 37 9 35957240 35957240 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:35957240C>T ENST00000341959.2 - 1 911 c.856G>A c.(856-858)Ggg>Agg p.G286R NM_019897.2 NP_063950.2 Q9NQN1 OR2S1_HUMAN olfactory receptor, family 2, subfamily S, member 2 286 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(8)|ovary(1)|skin(1)|stomach(1) 17 LUSC - Lung squamous cell carcinoma(32;0.00613)|STAD - Stomach adenocarcinoma(86;0.194) GTCACCACCCCATAGAAAAGG 0.498000 67 109 0 0 1 0 0 GCN1L1 10985 broad.mit.edu 37 12 120575018 120575018 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:120575018G>A ENST00000300648.6 - 50 6781 c.6769C>T c.(6769-6771)Ccg>Tcg p.P2257S NM_006836.1 NP_006827.1 Q92616 GCN1L_HUMAN GCN1 general control of amino-acid synthesis 1-like 1 (yeast) 2257 regulation of translation ribosome protein binding|translation factor activity, nucleic acid binding NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 94 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) ACCTTCTTCGGGAGGCAGAAT 0.607000 44 114 0 0 1 0 0 PEX5L 51555 broad.mit.edu 37 3 179689405 179689405 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:179689405C>T ENST00000467460.1 - 2 400 c.70G>A c.(70-72)Gaa>Aaa p.E24K PEX5L_ENST00000464614.1_5'UTR|PEX5L_ENST00000465751.1_Intron|PEX5L_ENST00000468741.1_5'UTR|PEX5L_ENST00000476138.1_5'UTR|PEX5L_ENST00000263962.8_Intron|PEX5L_ENST00000485199.1_Missense_Mutation_p.E24K|PEX5L_ENST00000472994.1_Intron NM_001256751.1|NM_016559.2 NP_001243680.1|NP_057643.1 Q8IYB4 PEX5R_HUMAN peroxisomal biogenesis factor 5-like 24 protein import into peroxisome matrix|regulation of cAMP-mediated signaling cytosol|peroxisomal membrane peroxisome matrix targeting signal-1 binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 49 all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183) OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518) acaattatttcgaggtcttca 0.313000 11 19 0 0 1 0 0 IMMT 10989 broad.mit.edu 37 2 86406652 86406652 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:86406652G>A ENST00000410111.3 - 3 600 c.213C>T c.(211-213)ttC>ttT p.F71F IMMT_ENST00000449247.2_Silent_p.F71F|IMMT_ENST00000254636.5_5'UTR|IMMT_ENST00000409051.2_Silent_p.F71F|IMMT_ENST00000442664.2_Silent_p.F71F NM_001100169.1|NM_001100170.1|NM_006839.2 NP_001093639.1|NP_001093640.1|NP_006830.2 Q16891 IMMT_HUMAN inner membrane protein, mitochondrial 71 integral to mitochondrial inner membrane protein binding breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 30 CACTTTCCCGGAAATGGGAAT 0.438000 16 27 0 0 1 0 0 DNAH10 196385 broad.mit.edu 37 12 124358214 124358214 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:124358214G>A ENST00000409039.3 + 45 7566 c.7541G>A c.(7540-7542)gGa>gAa p.G2514E NM_207437.3 NP_997320.2 Q8IVF4 DYH10_HUMAN dynein, axonemal, heavy chain 10 2514 AAA 3 (By similarity). microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 52 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346) CCACCCATGGGAAAACGCCTG 0.483000 6 21 0 0 1 0 0 TACC2 10579 broad.mit.edu 37 10 123970914 123970914 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:123970914C>T ENST00000369005.1 + 9 7314 c.6974C>T c.(6973-6975)cCc>cTc p.P2325L TACC2_ENST00000369004.3_Missense_Mutation_p.P403L|TACC2_ENST00000368999.1_Missense_Mutation_p.P403L|TACC2_ENST00000358010.1_Missense_Mutation_p.P471L|TACC2_ENST00000515603.1_Missense_Mutation_p.P2280L|TACC2_ENST00000369001.1_Missense_Mutation_p.P29L|TACC2_ENST00000260733.3_Missense_Mutation_p.P403L|TACC2_ENST00000334433.3_Missense_Mutation_p.P2325L|TACC2_ENST00000515273.1_Missense_Mutation_p.P2329L|TACC2_ENST00000513429.1_Missense_Mutation_p.P471L|TACC2_ENST00000360561.3_Missense_Mutation_p.P403L|TACC2_ENST00000369000.1_Missense_Mutation_p.P29L|TACC2_ENST00000453444.2_Missense_Mutation_p.P2329L NM_206862.2 NP_996744.2 O95359 TACC2_HUMAN transforming, acidic coiled-coil containing protein 2 2325 SPAZ. microtubule organizing center|nucleus nuclear hormone receptor binding NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 83 all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197) CCTGCTGAACCCAATGACATC 0.473000 13 233 0 0 1 0 0 PRKCA 5578 broad.mit.edu 37 17 64734964 64734964 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:64734964C>T ENST00000413366.3 + 11 1339 c.1313C>T c.(1312-1314)cCa>cTa p.P438L NM_002737.2 NP_002728.1 P17252 KPCA_HUMAN protein kinase C, alpha 438 Protein kinase. activation of phospholipase C activity|energy reserve metabolic process|induction of apoptosis by extracellular signals|intracellular signal transduction|mRNA metabolic process|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of blood vessel endothelial cell migration|regulation of insulin secretion|response to interleukin-1|synaptic transmission cytosol|endoplasmic reticulum|membrane fraction|nucleoplasm|plasma membrane ATP binding|enzyme binding|histone kinase activity (H3-T6 specific)|protein kinase C activity|zinc ion binding breast(3)|central_nervous_system(4)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 38 BRCA - Breast invasive adenocarcinoma(6;4.68e-09) Phosphatidylserine(DB00144)|Vitamin E(DB00163) TTTAAGGAACCACAAGCAGTG 0.438000 38 67 0 0 1 0 0 LRRC37BP1 147172 broad.mit.edu 37 17 28964387 28964387 + RNA SNP T T A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:28964387T>A ENST00000417404.1 + 0 4645 SMURF2P1_ENST00000578265.1_RNA AAATATTGGTTTTTTACTTAA 0.279000 10 18 0 0 1 0 0 ARPC1B 10095 broad.mit.edu 37 7 98987573 98987573 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:98987573C>T ENST00000451682.1 + 7 747 c.438C>T c.(436-438)ctC>ctT p.L146L ARPC1B_ENST00000252725.5_Silent_p.L146L O15143 ARC1B_HUMAN actin related protein 2/3 complex, subunit 1B, 41kDa 146 cellular component movement|regulation of actin filament polymerization Arp2/3 protein complex|cytoplasm actin binding|structural constituent of cytoskeleton central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(2)|lung(1) 11 all_cancers(62;3.49e-09)|all_epithelial(64;2.57e-10)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166) STAD - Stomach adenocarcinoma(171;0.215) CCACCGTCCTCAGCCTGGACT 0.637000 80 412 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9071975 9071975 + Silent SNP G G T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:9071975G>T ENST00000397910.4 - 3 15674 c.15471C>A c.(15469-15471)acC>acA p.T5157T NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 5159 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 CCACAGTGGTGGTGATAACCA 0.473000 108 208 1.67525e-54 1.697e-54 1 1 0 CELSR1 9620 broad.mit.edu 37 22 46929776 46929776 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr22:46929776G>A ENST00000262738.3 - 1 3291 c.3292C>T c.(3292-3294)Ccg>Tcg p.P1098S CELSR1_ENST00000395964.1_Missense_Mutation_p.P1098S|CELSR1_ENST00000497509.1_5'UTR NM_014246.1 NP_055061.1 Q9NYQ6 CELR1_HUMAN cadherin, EGF LAG seven-pass G-type receptor 1 1098 Cadherin 8. central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway integral to plasma membrane calcium ion binding|G-protein coupled receptor activity|protein dimerization activity breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3) 95 Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766) UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171) AGCACAGGCGGGTTGTCATTC 0.612000 16 312 0 0 1 0 0 ATP13A2 23400 broad.mit.edu 37 1 17316257 17316257 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:17316257G>A ENST00000452699.1 - 23 2712 c.2523C>T c.(2521-2523)gtC>gtT p.V841V RP1-37C10.3_ENST00000446261.1_RNA|ATP13A2_ENST00000341676.5_Silent_p.V802V|ATP13A2_ENST00000326735.8_Silent_p.V846V NM_001141973.1|NM_022089.2 NP_001135445.1|NP_071372.1 Q9NQ11 AT132_HUMAN ATPase type 13A2 846 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(11)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 32 Colorectal(325;0.000147)|Breast(348;0.00104)|Renal(390;0.00145)|Lung NSC(340;0.00566)|all_lung(284;0.00797)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646) UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|COAD - Colon adenocarcinoma(227;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;1.99e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182) CAGTGCCCTGGACCAGGACCT 0.657000 27 71 0 0 1 0 0 DHRS7B 25979 broad.mit.edu 37 17 21075427 21075427 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:21075427G>A ENST00000395511.3 + 2 437 c.117G>A c.(115-117)cgG>cgA p.R39R DHRS7B_ENST00000579303.1_Silent_p.R24R NM_015510.4 NP_056325.2 Q6IAN0 DRS7B_HUMAN dehydrogenase/reductase (SDR family) member 7B 39 integral to membrane|peroxisomal membrane binding|oxidoreductase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|pancreas(2) 7 GCCTCTTCCGGCTGCTGCAGT 0.647000 15 37 0 0 1 0 0 TRRAP 8295 broad.mit.edu 37 7 98574576 98574576 + Silent SNP C C T rs141899953 byFrequency TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:98574576C>T ENST00000359863.4 + 55 8450 c.8241C>T c.(8239-8241)tcC>tcT p.S2747S TRRAP_ENST00000355540.3_Silent_p.S2729S|TRRAP_ENST00000446306.3_Silent_p.S2729S NM_001244580.1 NP_001231509.1 Q9Y4A5 TRRAP_HUMAN transformation/transcription domain-associated protein 2747 FAT. histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2) 176 all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274) STAD - Stomach adenocarcinoma(171;0.215) TACTGGATTCCCTTGCGGAGC 0.473000 42 158 0 0 1 0 0 BAZ1B 9031 broad.mit.edu 37 7 72891628 72891628 + Missense_Mutation SNP A A C TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:72891628A>C ENST00000339594.4 - 7 2501 c.2163T>G c.(2161-2163)gaT>gaG p.D721E BAZ1B_ENST00000404251.1_Missense_Mutation_p.D721E NM_032408.3 NP_115784.1 Q9UIG0 BAZ1B_HUMAN bromodomain adjacent to zinc finger domain, 1B 721 ATP-dependent chromatin remodeling|chromatin-mediated maintenance of transcription|DNA replication-dependent nucleosome disassembly|double-strand break repair|heart morphogenesis|transcription, DNA-dependent WINAC complex ATP binding|chromatin binding|histone acetyl-lysine binding|histone kinase activity|non-membrane spanning protein tyrosine kinase activity|protein complex scaffold|vitamin D receptor activator activity|vitamin D receptor binding|zinc ion binding NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(5)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 61 Lung NSC(55;0.0659)|all_lung(88;0.152) GTACCTCATTATCCTCAAATG 0.478000 46 154 0 0 1 0 0 LOC643201 643201 broad.mit.edu 37 5 175581995 175581995 + RNA SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:175581995G>A ENST00000515403.1 - 0 2080 RP11-826N14.4_ENST00000510029.1_lincRNA NR_036494.1 GAAGCCACAGGCTATGGCCCT 0.582000 6 19 0 0 1 0 0 CACNA2D3 55799 broad.mit.edu 37 3 54919338 54919338 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:54919338C>T ENST00000474759.1 + 22 1991 c.1943C>T c.(1942-1944)tCc>tTc p.S648F CACNA2D3_ENST00000490478.1_Missense_Mutation_p.S554F|CACNA2D3-AS1_ENST00000471265.1_RNA|CACNA2D3_ENST00000288197.5_Missense_Mutation_p.S648F|CACNA2D3_ENST00000415676.2_Missense_Mutation_p.S648F NM_018398.2 NP_060868.2 Q8IZS8 CA2D3_HUMAN calcium channel, voltage-dependent, alpha 2/delta subunit 3 648 integral to membrane calcium channel activity|metal ion binding|voltage-gated ion channel activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3) 59 KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327) CCCGATGTGTCCTTGGCAGAT 0.483000 27 74 0 0 1 0 0 CLEC18C 283971 broad.mit.edu 37 16 70211273 70211273 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr16:70211273G>A ENST00000569347.2 + 3 600 c.346G>A c.(346-348)Ggc>Agc p.G116S CLEC18C_ENST00000536907.2_Missense_Mutation_p.G116S|CLEC18C_ENST00000314151.8_Missense_Mutation_p.G116S|CLEC18C_ENST00000541793.2_Missense_Mutation_p.G116S|CLEC18C_ENST00000561612.1_Intron NM_173619.2 NP_775890.2 C-type lectin domain family 18, member C endometrium(3)|large_intestine(6)|lung(1) 10 GCTGCCCGCGGGCTTGGCGTC 0.657000 23 92 0 0 1 0 0 FREM1 158326 broad.mit.edu 37 9 14863874 14863874 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:14863874C>T ENST00000380881.4 - 4 1077 c.262G>A c.(262-264)Gaa>Aaa p.E88K FREM1_ENST00000422223.2_Missense_Mutation_p.E88K|FREM1_ENST00000380880.3_Missense_Mutation_p.E88K Q5H8C1 FREM1_HUMAN FRAS1 related extracellular matrix 1 88 cell communication|multicellular organismal development basement membrane|integral to membrane metal ion binding|sugar binding p.E88K(1) breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 GBM - Glioblastoma multiforme(50;3.53e-06) TACTTGACTTCGTTGGGAAGG 0.413000 18 12 0 0 1 0 0 PDE11A 50940 broad.mit.edu 37 2 178682626 178682626 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:178682626C>T ENST00000286063.5 - 8 1920 c.1603G>A c.(1603-1605)Gat>Aat p.D535N PDE11A_ENST00000409504.1_Missense_Mutation_p.D177N|PDE11A_ENST00000497003.1_5'UTR|PDE11A_ENST00000449286.2_Missense_Mutation_p.D177N|PDE11A_ENST00000358450.4_Missense_Mutation_p.D285N|PDE11A_ENST00000389683.3_Missense_Mutation_p.D91N NM_016953.3 NP_058649.3 Q9HCR9 PDE11_HUMAN phosphodiesterase 11A 535 GAF 2. platelet activation|signal transduction cytosol 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(3) 58 OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02) GGTTTCCCATCAAGTCTGTTT 0.398000 Primary Pigmented Nodular Adrenocortical Disease, Familial 17 45 0 0 1 0 0 PPM1L 151742 broad.mit.edu 37 3 160679587 160679587 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:160679587G>A ENST00000498165.1 + 2 564 c.463G>A c.(463-465)Gag>Aag p.E155K PPM1L_ENST00000480117.1_3'UTR|PPM1L_ENST00000464260.1_5'UTR|PPM1L_ENST00000295839.9_Missense_Mutation_p.E28K|PPM1L_ENST00000497343.1_Missense_Mutation_p.E155K NM_139245.2 NP_640338.2 Q5SGD2 PPM1L_HUMAN protein phosphatase, Mg2+/Mn2+ dependent, 1L 155 PP2C-like. protein dephosphorylation|sphingolipid metabolic process endoplasmic reticulum membrane|integral to membrane|protein serine/threonine phosphatase complex metal ion binding|protein serine/threonine phosphatase activity breast(1)|endometrium(1)|large_intestine(4)|lung(5)|skin(1)|upper_aerodigestive_tract(1) 13 Lung(72;0.00149)|LUSC - Lung squamous cell carcinoma(72;0.00216) TCAGGACTACGAGAAAGACAA 0.393000 21 66 0 0 1 0 0 SUPT16H 11198 broad.mit.edu 37 14 21830355 21830355 + Splice_Site SNP C C A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr14:21830355C>A ENST00000216297.2 - 15 2132 c.e15+1 NM_007192.3 NP_009123.1 Q9Y5B9 SP16H_HUMAN suppressor of Ty 16 homolog (S. cerevisiae) DNA repair|DNA replication|nucleosome disassembly|positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction chromosome|nucleoplasm GTP binding breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 27 all_cancers(95;0.00115) Epithelial(56;1.62e-06)|all cancers(55;1.49e-05) GBM - Glioblastoma multiforme(265;0.0159) TGGGGACTCACATTTCCTTGA 0.428000 14 48 1.05317e-09 1.05911e-09 1 1 0 MMP19 4327 broad.mit.edu 37 12 56230950 56230950 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:56230950G>A ENST00000394182.1 - 4 538 c.539C>T c.(538-540)tCc>tTc p.S180F MMP19_ENST00000409200.3_3'UTR|MMP19_ENST00000322569.4_Missense_Mutation_p.S466F|MMP19_ENST00000548629.1_Missense_Mutation_p.S443F Q99542 MMP19_HUMAN matrix metallopeptidase 19 466 angiogenesis|cell differentiation|collagen catabolic process|proteolysis proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding endometrium(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(2) 26 CCAGTTGTGGGAAATATTTCT 0.517000 80 199 0 0 1 0 0 RELN 5649 broad.mit.edu 37 7 103293055 103293055 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:103293055G>A ENST00000428762.1 - 14 1865 c.1706C>T c.(1705-1707)tCt>tTt p.S569F RELN_ENST00000424685.2_Missense_Mutation_p.S569F|RELN_ENST00000343529.5_Missense_Mutation_p.S569F NM_005045.3 NP_005036.2 P78509 RELN_HUMAN reelin 569 axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2) 227 COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184) TATCATGTGAGACATTGTAGA 0.413000 66 164 0 0 1 0 0 LRP2 4036 broad.mit.edu 37 2 170048418 170048418 + Nonsense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:170048418G>A ENST00000263816.3 - 48 9241 c.8956C>T c.(8956-8958)Cag>Tag p.Q2986* NM_004525.2 NP_004516.2 P98164 LRP2_HUMAN low density lipoprotein receptor-related protein 2 2986 LDL-receptor class A 22. hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process coated pit|integral to membrane|lysosome calcium ion binding|receptor activity|SH3 domain binding biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13) 315 STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101) Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013) GTGCAATTCTGATTCTCATCG 0.463000 53 82 0 0 1 0 0 RHOJ 57381 broad.mit.edu 37 14 63749865 63749865 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr14:63749865C>T ENST00000316754.3 + 4 891 c.429C>T c.(427-429)acC>acT p.T143T RHOJ_ENST00000555125.1_Silent_p.T143T NM_020663.4 NP_065714.1 Q9H4E5 RHOJ_HUMAN ras homolog family member J 143 actin cytoskeleton organization|regulation of cell shape|regulation of small GTPase mediated signal transduction cytosol|plasma membrane GTP binding|GTPase activity NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|upper_aerodigestive_tract(1) 21 OV - Ovarian serous cystadenocarcinoma(108;0.00326)|all cancers(60;0.031)|BRCA - Breast invasive adenocarcinoma(234;0.119) ACCCAAAAACCTTGGCCCGTT 0.398000 23 58 0 0 1 0 0 CDHR3 222256 broad.mit.edu 37 7 105660897 105660897 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:105660897G>A ENST00000542731.1 + 13 1840 c.1732G>A c.(1732-1734)Gat>Aat p.D578N CDHR3_ENST00000343407.5_Intron|CDHR3_ENST00000317716.9_Missense_Mutation_p.D578N|CDHR3_ENST00000478080.1_Missense_Mutation_p.D490N|CDHR3_ENST00000470188.1_Intron Q6ZTQ4 CDHR3_HUMAN cadherin-related family member 3 578 Cadherin 6. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(1)|cervix(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(1) 23 CCTCCCAGTGGATCTGAAAGT 0.433000 49 89 0 0 1 0 0 PRR14 78994 broad.mit.edu 37 16 30667535 30667535 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr16:30667535C>T ENST00000542965.2 + 11 2117 c.1661C>T c.(1660-1662)cCt>cTt p.P554L PRR14_ENST00000300835.4_Missense_Mutation_p.P554L Q9BWN1 PRR14_HUMAN proline rich 14 554 breast(3)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|skin(1) 18 Colorectal(24;0.103) GCCCCCAGCCCTGATGTGGGC 0.642000 57 115 0 0 1 0 0 NRXN1 9378 broad.mit.edu 37 2 51254760 51254760 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:51254760C>T ENST00000404971.1 - 2 1991 c.652G>A c.(652-654)Gag>Aag p.E218K NRXN1_ENST00000405581.1_Missense_Mutation_p.E218K|NRXN1_ENST00000405472.3_Missense_Mutation_p.E218K|NRXN1_ENST00000406859.3_Missense_Mutation_p.E218K|NRXN1_ENST00000406316.2_Missense_Mutation_p.E218K|NRXN1_ENST00000401669.2_Missense_Mutation_p.E218K|NRXN1_ENST00000402717.3_Missense_Mutation_p.E218K NM_001135659.1 NP_001129131.1 Q9ULB1 NRX1A_HUMAN neurexin 1 218 EGF-like 1. adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition cell surface|integral to plasma membrane metal ion binding|protein binding|receptor activity breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 58 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192) Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116) TCGCCCGCCTCGCACGGGCTT 0.706000 3 9 0 0 1 0 0 SLC1A7 6512 broad.mit.edu 37 1 53556392 53556392 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:53556392C>T ENST00000371494.4 - 8 1245 c.1118G>A c.(1117-1119)gGt>gAt p.G373D SLC1A7_ENST00000488036.1_5'UTR NM_006671.4 NP_006662.3 O00341 EAA5_HUMAN solute carrier family 1 (glutamate transporter), member 7 373 integral to membrane|plasma membrane high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1) 26 Colorectal(1306;0.234) L-Glutamic Acid(DB00142) GATGGTGGCACCCACGGGCAG 0.602000 4 43 0 0 1 0 0 OR4A15 81328 broad.mit.edu 37 11 55135530 55135530 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:55135530C>T ENST00000314706.3 + 1 171 c.171C>T c.(169-171)gtC>gtT p.V57V NM_001005275.1 NP_001005275.1 Q8NGL6 O4A15_HUMAN olfactory receptor, family 4, subfamily A, member 15 57 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 71 TTTTATTTGTCACATTCTTAC 0.428000 32 74 0 0 1 0 0 FAT4 79633 broad.mit.edu 37 4 126412458 126412458 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:126412458G>A ENST00000394329.3 + 17 14494 c.14481G>A c.(14479-14481)agG>agA p.R4827R FAT4_ENST00000335110.5_Silent_p.R3068R NM_024582.4 NP_078858.4 Q6V0I7 FAT4_HUMAN FAT atypical cadherin 4 4827 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.R4827S(1)|p.R4770S(1) NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6) 355 CTAGAACAAGGAATCCAGCGG 0.502000 33 79 0 0 1 0 0 CDH13 1012 broad.mit.edu 37 16 83636123 83636123 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr16:83636123G>A ENST00000566620.1 + 8 1315 c.1025G>A c.(1024-1026)gGa>gAa p.G342E CDH13_ENST00000428848.3_Missense_Mutation_p.G303E|CDH13_ENST00000268613.10_Missense_Mutation_p.G389E NM_001220488.1|NM_001220489.1|NM_001220490.1|NM_001257.4 NP_001207417.1|NP_001207418.1|NP_001207419.1|NP_001248.1 P55290 CAD13_HUMAN cadherin 13 342 Cadherin 2. adherens junction organization|calcium-dependent cell-cell adhesion|cell junction assembly|endothelial cell migration|homophilic cell adhesion|keratinocyte proliferation|lamellipodium assembly|localization within membrane|low-density lipoprotein particle mediated signaling|negative regulation of cell adhesion|negative regulation of cell proliferation|positive regulation of calcium-mediated signaling|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of endothelial cell proliferation|positive regulation of positive chemotaxis|positive regulation of smooth muscle cell proliferation|positive regulation of survival gene product expression|Rac protein signal transduction|regulation of endocytosis|regulation of epidermal growth factor receptor signaling pathway|Rho protein signal transduction|sprouting angiogenesis anchored to membrane|caveola|extracellular space|integral to membrane|neuron projection adiponectin binding|cadherin binding|calcium ion binding|low-density lipoprotein particle binding large_intestine(1) 1 all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09) COAD - Colon adenocarcinoma(5;0.0268) CTGGATGTTGGATTAACAGGC 0.428000 111 104 0 0 1 0 0 ZP2 7783 broad.mit.edu 37 16 21221024 21221024 + Silent SNP C C T rs150656642 TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr16:21221024C>T ENST00000574002.1 - 5 740 c.258G>A c.(256-258)ccG>ccA p.P86P ZP2_ENST00000574091.1_Silent_p.P86P|ZP2_ENST00000219593.4_Silent_p.P86P Q05996 ZP2_HUMAN zona pellucida glycoprotein 2 (sperm receptor) 86 binding of sperm to zona pellucida|intracellular protein transport endoplasmic reticulum|Golgi apparatus|integral to membrane|multivesicular body|plasma membrane|proteinaceous extracellular matrix|stored secretory granule acrosin binding|coreceptor activity NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(16)|ovary(1)|prostate(1)|stomach(1) 41 GBM - Glioblastoma multiforme(48;0.0573) AAGTGCAGTTCGGCATGTCGA 0.498000 32 56 0 0 1 0 0 LRRC37A11P 342666 broad.mit.edu 37 17 37186609 37186609 + RNA SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:37186609C>T ENST00000425901.2 + 0 451 NR_033753.2 GAGGTTGAACCATCTGCAACC 0.577000 7 5 0 0 1 0 0 ZCCHC4 29063 broad.mit.edu 37 4 25353248 25353248 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:25353248C>T ENST00000302874.4 + 8 972 c.948C>T c.(946-948)ttC>ttT p.F316F ZCCHC4_ENST00000505451.1_3'UTR NM_024936.2 NP_079212.2 Q9H5U6 ZCHC4_HUMAN zinc finger, CCHC domain containing 4 316 methyltransferase activity|nucleic acid binding|zinc ion binding endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|pancreas(1) 9 Breast(46;0.0503) TCTGGATTTTCCCCTATTTTT 0.353000 38 78 0 0 1 0 0 KIAA1549 57670 broad.mit.edu 37 7 138602377 138602377 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:138602377G>A ENST00000440172.1 - 2 2043 c.1995C>T c.(1993-1995)ccC>ccT p.P665P KIAA1549_ENST00000422774.1_Silent_p.P665P|KIAA1549_ENST00000242365.4_Silent_p.P615P NM_001164665.1|NM_020910.2 NP_001158137.1|NP_065961.2 Q9HCM3 K1549_HUMAN KIAA1549 665 Ser-rich. integral to membrane KIAA1549/BRAF(703) large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2) 7 TCTCAACCAAGGGAGAAAAAG 0.498000 O BRAF pilocytic astrocytoma 17 48 0 0 1 0 0 SEC31A 22872 broad.mit.edu 37 4 83796907 83796907 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:83796907G>A ENST00000432794.1 - 5 634 c.471C>T c.(469-471)acC>acT p.T157T SEC31A_ENST00000448323.1_Silent_p.T157T|SEC31A_ENST00000395310.2_Silent_p.T157T|SEC31A_ENST00000443462.2_Silent_p.T152T|SEC31A_ENST00000509142.1_Silent_p.T157T|SEC31A_ENST00000508502.1_Silent_p.T157T|SEC31A_ENST00000311785.7_Silent_p.T157T|SEC31A_ENST00000355196.2_Silent_p.T157T|SEC31A_ENST00000348405.4_Silent_p.T157T|SEC31A_ENST00000508479.1_Silent_p.T157T|SEC31A_ENST00000500777.2_Silent_p.T157T|SEC31A_ENST00000326950.5_Silent_p.T157T|SEC31A_ENST00000505472.1_Silent_p.T157T|SEC31A_ENST00000505984.1_Silent_p.T157T|SEC31A_ENST00000436790.2_5'UTR|SEC31A_ENST00000513858.1_Silent_p.T157T O94979 SC31A_HUMAN SEC31 homolog A (S. cerevisiae) 157 COPII vesicle coating|post-translational protein modification|protein N-linked glycosylation via asparagine|protein transport|response to calcium ion COPII vesicle coat|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm calcium-dependent protein binding SEC31A/ALK(3)|SEC31A/JAK2(4) breast(1) 1 Hepatocellular(203;0.114) GTGTCATTGGGGTTGCAAAAT 0.338000 9 31 0 0 1 0 0 CACNA1C 775 broad.mit.edu 37 12 2702384 2702384 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:2702384G>A ENST00000399655.1 + 19 2801 c.2536G>A c.(2536-2538)Gag>Aag p.E846K CACNA1C_ENST00000399644.1_Missense_Mutation_p.E846K|CACNA1C_ENST00000399638.1_Missense_Mutation_p.E846K|CACNA1C_ENST00000406454.3_Missense_Mutation_p.E846K|CACNA1C_ENST00000399621.1_Missense_Mutation_p.E846K|CACNA1C_ENST00000480911.1_Missense_Mutation_p.E846K|CACNA1C_ENST00000335762.5_Missense_Mutation_p.E871K|CACNA1C_ENST00000399601.1_Missense_Mutation_p.E846K|CACNA1C_ENST00000399641.1_Missense_Mutation_p.E846K|CACNA1C_ENST00000399591.1_Missense_Mutation_p.E846K|CACNA1C_ENST00000399603.1_Missense_Mutation_p.E846K|CACNA1C_ENST00000327702.7_Missense_Mutation_p.E846K|CACNA1C_ENST00000399629.1_Missense_Mutation_p.E846K|CACNA1C_ENST00000399637.1_Missense_Mutation_p.E846K|CACNA1C_ENST00000344100.3_Missense_Mutation_p.E846K|CACNA1C_ENST00000399597.1_Missense_Mutation_p.E846K|CACNA1C_ENST00000399617.1_Missense_Mutation_p.E846K|CACNA1C_ENST00000402845.3_Missense_Mutation_p.E846K|CACNA1C_ENST00000399649.1_Missense_Mutation_p.E846K|CACNA1C_ENST00000399595.1_Missense_Mutation_p.E846K|CACNA1C_ENST00000399634.1_Missense_Mutation_p.E846K|CACNA1C_ENST00000347598.4_Missense_Mutation_p.E846K|CACNA1C_ENST00000399606.1_Missense_Mutation_p.E846K NM_000719.6|NM_001129829.1|NM_001129834.1 NP_000710.5|NP_001123301.1|NP_001123306.1 Q13936 CAC1C_HUMAN calcium channel, voltage-dependent, L type, alpha 1C subunit 846 axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion cytoplasm|postsynaptic density|voltage-gated calcium channel complex calmodulin binding|voltage-gated calcium channel activity NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4) 132 OV - Ovarian serous cystadenocarcinoma(31;0.00256) LUAD - Lung adenocarcinoma(1;0.134) Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661) TACAGGAGAAGAGGATGAGGA 0.517000 9 23 0 0 1 0 0 SMAP1 60682 broad.mit.edu 37 6 71567842 71567842 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:71567842C>T ENST00000370455.3 + 10 1427 c.1179C>T c.(1177-1179)ggC>ggT p.G393G SMAP1_ENST00000370452.3_Silent_p.G366G|SMAP1_ENST00000316999.5_Silent_p.G366G|B3GAT2_ENST00000230053.6_3'UTR NM_001044305.1 NP_001037770.1 Q8IYB5 SMAP1_HUMAN small ArfGAP 1 393 regulation of ARF GTPase activity plasma membrane ARF GTPase activator activity|zinc ion binding breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(1) 15 ACGTTGTTGGCCCCCAAGGAG 0.567000 29 69 0 0 1 0 0 KIAA0195 9772 broad.mit.edu 37 17 73489658 73489658 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:73489658C>T ENST00000314256.7 + 17 2567 c.2173C>T c.(2173-2175)Ctc>Ttc p.L725F KIAA0195_ENST00000579208.1_Missense_Mutation_p.L376F|KIAA0195_ENST00000375248.5_Missense_Mutation_p.L735F NM_014738.4 NP_055553.3 Q12767 K0195_HUMAN KIAA0195 725 ATP biosynthetic process|cation transport integral to membrane ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism breast(2)|endometrium(5)|kidney(2)|large_intestine(7)|lung(17)|ovary(5)|skin(2)|stomach(1)|urinary_tract(1) 42 all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246) all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154) CATCTACCCTCTCTCGGGATC 0.612000 39 137 0 0 1 0 0 DNAH3 55567 broad.mit.edu 37 16 21071648 21071648 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr16:21071648C>T ENST00000261383.3 - 26 3749 c.3750G>A c.(3748-3750)gtG>gtA p.V1250V DNAH3_ENST00000415178.1_Silent_p.V1250V NM_017539.1 NP_060009.1 Q8TD57 DYH3_HUMAN dynein, axonemal, heavy chain 3 1250 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6) 202 GBM - Glioblastoma multiforme(48;0.207) TCATCTGCTCCACCTGCTGGA 0.537000 69 147 0 0 1 0 0 TTC31 64427 broad.mit.edu 37 2 74720205 74720205 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:74720205C>T ENST00000233623.5 + 13 1427 c.1420C>T c.(1420-1422)Cct>Tct p.P474S TTC31_ENST00000442235.2_Silent_p.I132I|TTC31_ENST00000410003.1_3'UTR NM_022492.4 NP_071937.4 Q49AM3 TTC31_HUMAN tetratricopeptide repeat domain 31 474 binding breast(1)|endometrium(1)|large_intestine(4)|lung(2)|skin(1) 9 CTTGCATTATCCTTCATGTCA 0.597000 40 354 0 0 1 0 0 CR1 1378 broad.mit.edu 37 1 207755273 207755273 + Nonsense_Mutation SNP A A T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:207755273A>T ENST00000367049.4 + 32 5227 c.5227A>T c.(5227-5229)Aag>Tag p.K1743* RP11-78B10.2_ENST00000596003.1_RNA|CR1_ENST00000400960.2_Nonsense_Mutation_p.K1293*|CR1_ENST00000367052.1_Nonsense_Mutation_p.K1293*|CR1_ENST00000367053.1_Nonsense_Mutation_p.K1293*|RP11-78B10.2_ENST00000597497.1_RNA|CR1_ENST00000367051.1_Nonsense_Mutation_p.K1293* NM_000651.4 NP_000642.3 P17927 CR1_HUMAN complement component (3b/4b) receptor 1 (Knops blood group) 1293 Sushi 27. complement activation, classical pathway|innate immune response integral to plasma membrane complement receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 82 GTTTCGCTTAAAGGGCAGTTC 0.443000 4 125 0 0 1 0 0 CSRP2BP 57325 broad.mit.edu 37 20 18142722 18142722 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr20:18142722C>T ENST00000278816.2 + 6 1591 c.941C>T c.(940-942)tCc>tTc p.S314F CSRP2BP_ENST00000489634.2_Missense_Mutation_p.S186F|CSRP2BP_ENST00000377681.2_Missense_Mutation_p.S313F|CSRP2BP_ENST00000435364.2_Missense_Mutation_p.S314F Q9H8E8 CSR2B_HUMAN CSRP2 binding protein 314 histone H3 acetylation Ada2/Gcn5/Ada3 transcription activator complex|cytoplasm LIM domain binding|N-acetyltransferase activity NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|stomach(1) 34 GACTTTTCCTCCTTGAGCTCC 0.522000 100 178 0 0 1 0 0 NOBOX 135935 broad.mit.edu 37 7 144098451 144098451 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:144098451G>A ENST00000467773.1 - 4 531 c.532C>T c.(532-534)Ccc>Tcc p.P178S NOBOX_ENST00000223140.5_Missense_Mutation_p.P93S|NOBOX_ENST00000483238.1_Missense_Mutation_p.P178S NM_001080413.3 NP_001073882.3 O60393 NOBOX_HUMAN NOBOX oogenesis homeobox 178 cell differentiation|oogenesis nucleus sequence-specific DNA binding NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1) 26 Melanoma(164;0.14) TGAGTCTGGGGCCTGGAGCGG 0.612000 12 47 0 0 1 0 0 OR4D9 390199 broad.mit.edu 37 11 59283087 59283087 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:59283087G>A ENST00000329328.3 + 1 702 c.702G>A c.(700-702)agG>agA p.R234R NM_001004711.1 NP_001004711.1 Q8NGE8 OR4D9_HUMAN olfactory receptor, family 4, subfamily D, member 9 234 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|prostate(5)|upper_aerodigestive_tract(1) 26 AAGGCAGGAGGAAAGCCATCT 0.522000 117 195 0 0 1 0 0 OR4C16 219428 broad.mit.edu 37 11 55339861 55339861 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:55339861G>A ENST00000314634.3 + 1 258 c.258G>A c.(256-258)aaG>aaA p.K86K NM_001004701.2 NP_001004701.2 Q8NGL9 OR4CG_HUMAN olfactory receptor, family 4, subfamily C, member 16 (gene/pseudogene) 86 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(28)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 41 all_epithelial(135;0.0748) CCCTTTTGAAGAAGACAACTA 0.438000 7 282 0 0 1 0 0 ASB10 136371 broad.mit.edu 37 7 150878053 150878053 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:150878053G>A ENST00000422024.1 - 3 1337 c.1212C>T c.(1210-1212)gtC>gtT p.V404V ASB10_ENST00000275838.1_Silent_p.V359V|ASB10_ENST00000434669.1_Silent_p.V404V|ASB10_ENST00000420175.2_Silent_p.V359V|ASB10_ENST00000377867.3_Silent_p.V344V NM_001142459.1 NP_001135931.2 Q8WXI3 ASB10_HUMAN ankyrin repeat and SOCS box containing 10 359 intracellular signal transduction NS(1)|endometrium(2)|lung(7)|skin(2) 12 OV - Ovarian serous cystadenocarcinoma(82;0.00448) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) GCCAGACACGGACGGCGCCAT 0.701000 6 31 0 0 1 0 0 ANKRD20A11P 391267 broad.mit.edu 37 21 15326393 15326393 + RNA SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr21:15326393C>T ENST00000344693.5 - 0 814 NR_027270.1 TCACCTTCTCCTTTTCCATTG 0.463000 41 76 0 0 1 0 0 BRINP3 339479 broad.mit.edu 37 1 190423866 190423866 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:190423866C>T ENST00000367462.3 - 2 386 c.155G>A c.(154-156)gGa>gAa p.G52E FAM5C_ENST00000534846.1_Missense_Mutation_p.D14N|FAM5C_ENST00000484105.1_5'UTR NM_199051.1 NP_950252.1 Q76B58 FAM5C_HUMAN 52 extracellular region NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2) 164 Prostate(682;0.198) ATGGAAGGGTCCCTTATCAGA 0.493000 33 43 0 0 1 0 0 EPHA4 2043 broad.mit.edu 37 2 222291234 222291234 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:222291234G>A ENST00000281821.2 - 16 2837 c.2796C>T c.(2794-2796)ttC>ttT p.F932F EPHA4_ENST00000409854.1_Silent_p.F932F|EPHA4_ENST00000409938.1_Silent_p.F932F|EPHA4_ENST00000392071.4_Silent_p.F881F NM_004438.3 NP_004429.1 P54764 EPHA4_HUMAN EPH receptor A4 932 SAM. integral to plasma membrane ATP binding|ephrin receptor activity p.F932F(2) NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 49 Renal(207;0.0183) Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154) CAGCAGCTGTGAAGTTATCCT 0.463000 22 66 0 0 1 0 0 ZNF626 199777 broad.mit.edu 37 19 20807842 20807842 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:20807842C>T ENST00000601440.1 - 4 987 c.841G>A c.(841-843)Gaa>Aaa p.E281K CTC-513N18.7_ENST00000595094.1_lincRNA NM_001076675.2 NP_001070143.1 Q68DY1 ZN626_HUMAN zinc finger protein 626 281 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(1)|lung(3)|skin(1) 6 GGTTTCTTTTCCGTATGAATT 0.383000 42 98 0 0 1 0 0 GALNT13 114805 broad.mit.edu 37 2 155098563 155098563 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:155098563C>T ENST00000392825.3 + 5 899 c.332C>T c.(331-333)cCt>cTt p.P111L GALNT13_ENST00000409237.1_Missense_Mutation_p.P111L NM_052917.2 NP_443149.2 Q8IUC8 GLT13_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13) 111 Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 65 AAAGTCTACCCTGATGAACTT 0.333000 22 57 0 0 1 0 0 SLC17A7 57030 broad.mit.edu 37 19 49938539 49938539 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:49938539G>A ENST00000221485.3 - 3 491 c.320C>T c.(319-321)gCc>gTc p.A107V SLC17A7_ENST00000600601.1_Missense_Mutation_p.A40V|SLC17A7_ENST00000543531.1_Missense_Mutation_p.A95V NM_020309.3 NP_064705.1 Q9P2U7 VGLU1_HUMAN solute carrier family 17 (vesicular glutamate transporter), member 7 107 glutamate secretion|neurotransmitter secretion cell junction|clathrin sculpted glutamate transport vesicle membrane|integral to membrane|synaptic vesicle membrane|synaptosome L-glutamate transmembrane transporter activity|sodium-dependent phosphate transmembrane transporter activity|sodium:inorganic phosphate symporter activity autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(2)|pancreas(1)|skin(1)|stomach(1) 26 all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392) OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(486;0.0245) GCTGAACTGGGCTTTCTGCGG 0.522000 91 202 0 0 1 0 0 GPR113 165082 broad.mit.edu 37 2 26535889 26535889 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:26535889C>T ENST00000333478.6 - 7 1560 c.978G>A c.(976-978)ctG>ctA p.L326L GPR113_ENST00000459892.1_5'UTR|GPR113_ENST00000541401.1_Silent_p.L128L|GPR113_ENST00000421160.2_Silent_p.L456L|GPR113_ENST00000311519.1_Silent_p.L525L NM_153835.3 NP_722577.2 Q8IZF5 GP113_HUMAN G protein-coupled receptor 113 525 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1) 24 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TCAGCAGGGTCAGTAAGTCGG 0.612000 26 41 0 0 1 0 0 MYRF 745 broad.mit.edu 37 11 61548635 61548635 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:61548635C>T ENST00000278836.5 + 21 2694 c.2598C>T c.(2596-2598)gcC>gcT p.A866A MYRF_ENST00000389602.4_Silent_p.A257A|MYRF_ENST00000265460.5_Silent_p.A831A|TMEM258_ENST00000535042.1_Intron NM_001127392.1 NP_001120864.1 myelin regulatory factor CCAGCTCGGCCCCAGGTTCTG 0.592000 70 138 0 0 1 0 0 HRG 3273 broad.mit.edu 37 3 186394995 186394995 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:186394995C>T ENST00000232003.4 + 7 981 c.901C>T c.(901-903)Cca>Tca p.P301S NM_000412.2 NP_000403.1 P04196 HRG_HUMAN histidine-rich glycoprotein 301 Pro-rich. fibrinolysis|platelet activation|platelet degranulation extracellular region|plasma membrane|platelet alpha granule lumen cysteine-type endopeptidase inhibitor activity|heparin binding breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(12)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 all_cancers(143;6.64e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;5.73e-20) GBM - Glioblastoma multiforme(93;0.0683) CCCACCTCCTCCAGATGAAAG 0.532000 8 121 0 0 1 0 0 TSSC2 650368 broad.mit.edu 37 11 3428790 3428790 + RNA SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:3428790G>A ENST00000529482.1 + 0 1907 GCCCAGGTGGGCACCCCAGGG 0.567000 14 10 0 0 1 0 0 ITLN2 142683 broad.mit.edu 37 1 160914966 160914966 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:160914966C>T ENST00000368029.3 - 8 999 c.942G>A c.(940-942)gaG>gaA p.E314E RP11-544M22.1_ENST00000356006.3_RNA|ITLN2_ENST00000494442.1_5'UTR NM_080878.2 NP_543154.1 Q8WWU7 ITLN2_HUMAN intelectin 2 314 signal transduction extracellular region receptor binding|sugar binding endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(1) 19 all_cancers(52;2.99e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00275) CCTCCGTTATCTCCCGACTGC 0.552000 24 91 0 0 1 0 0 CFHR1 3078 broad.mit.edu 37 1 196794778 196794778 + Nonsense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:196794778G>A ENST00000320493.5 + 2 318 c.230G>A c.(229-231)tGg>tAg p.W77* CFHR1_ENST00000498248.1_3'UTR|CFHR1_ENST00000367424.3_Nonsense_Mutation_p.W77*|CFHR2_ENST00000367421.3_Intron NM_002113.2 NP_002104.2 Q03591 FHR1_HUMAN complement factor H-related 1 77 Sushi 1. complement activation extracellular space NS(1)|kidney(1)|large_intestine(2)|lung(7) 11 GAAGAAGGATGGTCACCAACA 0.393000 60 16 0 0 1 0 0 PKP2 5318 broad.mit.edu 37 12 33030968 33030968 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:33030968C>T ENST00000340811.4 - 3 954 c.846G>A c.(844-846)caG>caA p.Q282Q PKP2_ENST00000070846.6_Silent_p.Q282Q NM_001005242.2 NP_001005242.2 Q99959 PKP2_HUMAN plakophilin 2 282 cell-cell adhesion desmosome|integral to membrane|nucleus binding NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1) 50 Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239) AAGCCCTGTTCTGAGTGACGG 0.657000 51 51 0 0 1 0 0 MDC1 9656 broad.mit.edu 37 6 30671516 30671516 + Missense_Mutation SNP A A G TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:30671516A>G ENST00000376406.3 - 10 6091 c.5444T>C c.(5443-5445)tTa>tCa p.L1815S MDC1_ENST00000376405.2_Missense_Mutation_p.L1551S|MDC1-AS1_ENST00000442150.1_RNA NM_014641.2 NP_055456.2 Q14676 MDC1_HUMAN mediator of DNA-damage checkpoint 1 1815 Required for nuclear localization (NLS2). cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint focal adhesion|nucleoplasm FHA domain binding|protein C-terminus binding breast(2)|kidney(1)|ovary(1) 4 CATGGTAGCTAAAGACCTCTT 0.507000 Other conserved DNA damage response genes 8 309 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9086715 9086715 + Silent SNP A A C TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:9086715A>C ENST00000397910.4 - 1 5303 c.5100T>G c.(5098-5100)gtT>gtG p.V1700V NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 1700 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding p.S1701fs*8(1) NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 GGACAGAGGAAACTCTTCCTA 0.478000 17 168 0 0 1 0 0 OR52E6 390078 broad.mit.edu 37 11 5862272 5862272 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:5862272G>A ENST00000329322.5 - 1 855 c.856C>T c.(856-858)Ccc>Tcc p.P286S OR52E6_ENST00000379946.2_Missense_Mutation_p.P290S|TRIM5_ENST00000380027.1_Intron NM_001005167.1 NP_001005167.1 Q96RD3 O52E6_HUMAN olfactory receptor, family 52, subfamily E, member 6 286 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 27 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;2.55e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) TTGAGGGTGGGAGGAACAACC 0.408000 40 36 0 0 1 0 0 PPFIA2 8499 broad.mit.edu 37 12 81851589 81851589 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:81851589C>T ENST00000550584.2 - 4 655 c.360G>A c.(358-360)aaG>aaA p.K120K PPFIA2_ENST00000548586.1_Silent_p.K120K|PPFIA2_ENST00000545296.2_5'UTR|PPFIA2_ENST00000407050.4_Silent_p.K46K|PPFIA2_ENST00000549325.1_Silent_p.K102K|PPFIA2_ENST00000550359.2_5'UTR|PPFIA2_ENST00000552948.1_Silent_p.K120K|PPFIA2_ENST00000549396.1_Silent_p.K120K|PPFIA2_ENST00000443686.3_Silent_p.K46K|PPFIA2_ENST00000333447.7_Silent_p.K102K|RP11-315E17.1_ENST00000550272.1_RNA NM_001220473.1 NP_001207402.1 B7Z663 B7Z663_HUMAN protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2 46 NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5) 85 TTTCTTCTTCCTTTTCTAGAA 0.313000 8 24 0 0 1 0 0 OR8H2 390151 broad.mit.edu 37 11 55873210 55873210 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:55873210C>T ENST00000313503.1 + 1 692 c.692C>T c.(691-693)aCt>aTt p.T231I NM_001005200.1 NP_001005200.1 Q8N162 OR8H2_HUMAN olfactory receptor, family 8, subfamily H, member 2 231 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 61 Esophageal squamous(21;0.00693) ATTAATTCCACTTCAGGAAAG 0.373000 HNSCC(53;0.14) 4 147 0 0 1 0 0 ANKRD30BP3 338579 broad.mit.edu 37 10 45652498 45652498 + RNA SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:45652498G>A ENST00000427229.2 + 0 2012 CACATGGGAGGAAAAATAAAC 0.378000 15 30 0 0 1 0 0 ZNF480 147657 broad.mit.edu 37 19 52825018 52825018 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:52825018C>T ENST00000595962.1 + 5 581 c.515C>T c.(514-516)tCc>tTc p.S172F ZNF480_ENST00000334564.7_Missense_Mutation_p.S129F|ZNF480_ENST00000490272.1_3'UTR|CTD-2525I3.6_ENST00000594379.1_RNA|ZNF480_ENST00000335090.6_Missense_Mutation_p.S95F NM_144684.2 NP_653285.2 Q8WV37 ZN480_HUMAN zinc finger protein 480 172 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|upper_aerodigestive_tract(1) 12 GBM - Glioblastoma multiforme(134;0.00212)|OV - Ovarian serous cystadenocarcinoma(262;0.00369) GAAATGTCTTCCAGTGTCAAA 0.353000 19 75 0 0 1 0 0 PCDHB6 56130 broad.mit.edu 37 5 140532154 140532154 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:140532154C>T ENST00000231136.1 + 1 2316 c.2316C>T c.(2314-2316)ttC>ttT p.F772F PCDHB6_ENST00000543635.1_Silent_p.F636F NM_018939.2 NP_061762.1 Q9Y5E3 PCDB6_HUMAN 772 calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 84 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TGCCCAACTTCCCTCCTCAGG 0.483000 51 120 0 0 1 0 0 GPLD1 2822 broad.mit.edu 37 6 24437389 24437389 + Nonsense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:24437389G>A ENST00000230036.1 - 21 2259 c.2149C>T c.(2149-2151)Cga>Tga p.R717* NM_001503.3 NP_001494.2 P80108 PHLD_HUMAN glycosylphosphatidylinositol specific phospholipase D1 717 extracellular region glycosylphosphatidylinositol phospholipase D activity breast(3)|endometrium(5)|kidney(1)|large_intestine(11)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1) 32 CCACCAAATCGGGAGAAGCGG 0.572000 49 152 0 0 1 0 0 DIDO1 11083 broad.mit.edu 37 20 61538608 61538608 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr20:61538608G>A ENST00000266070.4 - 5 1590 c.1265C>T c.(1264-1266)gCc>gTc p.A422V DIDO1_ENST00000370366.1_Missense_Mutation_p.A422V|DIDO1_ENST00000370371.4_Missense_Mutation_p.A422V|DIDO1_ENST00000370368.1_Missense_Mutation_p.A422V|DIDO1_ENST00000395335.2_Missense_Mutation_p.A422V|DIDO1_ENST00000395343.1_Missense_Mutation_p.A422V|DIDO1_ENST00000266071.5_Missense_Mutation_p.A422V|DIDO1_ENST00000395340.1_Missense_Mutation_p.A422V|DIDO1_ENST00000354665.4_Missense_Mutation_p.A422V NM_033081.2 NP_149072.2 Q9BTC0 DIDO1_HUMAN death inducer-obliterator 1 422 apoptosis|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1) 99 Breast(26;5.68e-08) TGTCGCTGCGGCGTGTTTGAG 0.512000 111 266 0 0 1 0 0 CABP5 56344 broad.mit.edu 37 19 48543880 48543880 + Nonsense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:48543880G>A ENST00000293255.2 - 3 350 c.220C>T c.(220-222)Cag>Tag p.Q74* NM_019855.4 NP_062829.1 Q9NP86 CABP5_HUMAN calcium binding protein 5 74 EF-hand 2. signal transduction cytoplasm calcium ion binding endometrium(1)|large_intestine(3)|lung(3)|prostate(2)|skin(2) 11 all_cancers(25;1.86e-08)|all_lung(116;1.14e-06)|all_epithelial(76;1.16e-06)|Lung NSC(112;2.54e-06)|all_neural(266;0.0138)|Ovarian(192;0.0261)|Breast(70;0.203) OV - Ovarian serous cystadenocarcinoma(262;4.09e-05)|all cancers(93;0.000322)|Epithelial(262;0.01)|GBM - Glioblastoma multiforme(486;0.058) CGGATTTGCTGGCCGAGCTCA 0.532000 28 66 0 0 1 0 0 FREM2 341640 broad.mit.edu 37 13 39264519 39264519 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr13:39264519C>T ENST00000280481.7 + 1 3254 c.3038C>T c.(3037-3039)tCt>tTt p.S1013F NM_207361.4 NP_997244.3 Q5SZK8 FREM2_HUMAN FRAS1 related extracellular matrix protein 2 1013 cell communication|homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2) 148 Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114) all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312) TTGGAGGGCTCTGTTGTATAT 0.443000 55 136 0 0 1 0 0 ARHGEF15 22899 broad.mit.edu 37 17 8216517 8216517 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:8216517C>T ENST00000361926.3 + 3 989 c.879C>T c.(877-879)ttC>ttT p.F293F ARHGEF15_ENST00000421050.1_Silent_p.F293F NM_173728.3 NP_776089.2 O94989 ARHGF_HUMAN Rho guanine nucleotide exchange factor (GEF) 15 293 negative regulation of synapse maturation|regulation of Rho protein signal transduction dendrite|intracellular GTPase activator activity|Rho guanyl-nucleotide exchange factor activity breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1) 37 CCACCATTTTCGGGGACCCCC 0.592000 30 60 0 0 1 0 0 PPARG 5468 broad.mit.edu 37 3 12458310 12458310 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:12458310C>T ENST00000397026.2 + 8 1244 c.861C>T c.(859-861)atC>atT p.I287I PPARG_ENST00000397010.2_Silent_p.I281I|PPARG_ENST00000397012.2_Silent_p.I281I|PPARG_ENST00000397015.2_Silent_p.I281I|PPARG_ENST00000397000.1_Intron|PPARG_ENST00000539812.1_Intron|PPARG_ENST00000309576.6_Silent_p.I281I|PPARG_ENST00000287820.6_Silent_p.I309I P37231 PPARG_HUMAN peroxisome proliferator-activated receptor gamma 309 activation of caspase activity|cell fate commitment|cell maturation|cellular response to insulin stimulus|epithelial cell differentiation|glucose homeostasis|induction of apoptosis|innate immune response|lipid homeostasis|lipoprotein transport|long-chain fatty acid transport|low-density lipoprotein particle receptor biosynthetic process|monocyte differentiation|negative regulation of cholesterol storage|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of macrophage derived foam cell differentiation|negative regulation of receptor biosynthetic process|negative regulation of sequestering of triglyceride|negative regulation of transcription from RNA polymerase II promoter|placenta development|positive regulation of fat cell differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to lipid|response to low-density lipoprotein particle stimulus|white fat cell differentiation cytosol|nucleoplasm activating transcription factor binding|arachidonic acid binding|drug binding|enzyme binding|prostaglandin receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding PAX8/PPARG(117) breast(2)|endometrium(4)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1) 20 Atorvastatin(DB01076)|Icosapent(DB00159)|Pioglitazone(DB01132)|Rosiglitazone(DB00412)|Troglitazone(DB00197) CCATCCGCATCTTTCAGGGCT 0.468000 T PAX8 follicular thyroid """Insulin resistance ; lipodystrophy, familial partial L;diabetes mellitus, insulin-resistantI, with acanthosis nigricans and hypertension""" 36 54 0 0 1 0 0 OR13A1 79290 broad.mit.edu 37 10 45799659 45799659 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:45799659G>A ENST00000553795.1 - 4 520 c.212C>T c.(211-213)cCt>cTt p.P71L OR13A1_ENST00000374401.2_Missense_Mutation_p.P71L|OR13A1_ENST00000536058.1_Missense_Mutation_p.P71L NM_001004297.2 NP_001004297.2 Q8NGR1 O13A1_HUMAN olfactory receptor, family 13, subfamily A, member 1 71 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(2)|urinary_tract(1) 19 GTGGAGCCCAGGGTTGAACGT 0.517000 30 32 0 0 1 0 0 MTMR4 9110 broad.mit.edu 37 17 56585601 56585601 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:56585601G>A ENST00000323456.5 - 8 710 c.586C>T c.(586-588)Cct>Tct p.P196S MTMR4_ENST00000579925.1_Missense_Mutation_p.P196S NM_004687.4 NP_004678.3 Q9NYA4 MTMR4_HUMAN myotubularin related protein 4 196 Myotubularin phosphatase. cytoplasm|membrane metal ion binding|protein tyrosine phosphatase activity breast(10)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|skin(5) 36 Medulloblastoma(34;0.127)|all_neural(34;0.237) ATCCACACAGGAACCAGCAGC 0.567000 47 138 0 0 1 0 0 OR2T10 127069 broad.mit.edu 37 1 248756279 248756279 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:248756279G>A ENST00000330500.2 - 1 821 c.791C>T c.(790-792)tCc>tTc p.S264F NM_001004693.1 NP_001004693.1 Q8NGZ9 O2T10_HUMAN olfactory receptor, family 2, subfamily T, member 10 264 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(17)|skin(3)|upper_aerodigestive_tract(1) 26 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) AGTTTGGTAGGAGCTGGGGAG 0.448000 52 38 0 0 1 0 0 AHNAK2 113146 broad.mit.edu 37 14 105419397 105419397 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr14:105419397G>A ENST00000333244.5 - 7 2510 c.2391C>T c.(2389-2391)tcC>tcT p.S797S AHNAK2_ENST00000557457.1_Intron NM_138420.2 NP_612429.2 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 797 nucleus cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3) 33 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) CCTCCATGCTGGACAGAGACA 0.617000 132 323 0 0 1 0 0 VSTM4 196740 broad.mit.edu 37 10 50315834 50315834 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:50315834C>T ENST00000332853.3 - 2 285 c.262G>A c.(262-264)Ggg>Agg p.G88R VSTM4_ENST00000298454.3_Missense_Mutation_p.G88R NM_001031746.3 NP_001026916.2 Q8IW00 CJ072_HUMAN V-set and transmembrane domain containing 4 88 Ig-like. integral to membrane|plasma membrane p.G88W(2) breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|skin(2) 31 CTGAAATTCCCATAGTACTGC 0.632000 38 74 0 0 1 0 0 KRT28 162605 broad.mit.edu 37 17 38955994 38955994 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:38955994C>T ENST00000306658.7 - 1 217 c.152G>A c.(151-153)gGg>gAg p.G51E NM_181535.3 NP_853513.2 Q7Z3Y7 K1C28_HUMAN keratin 28 51 Gly-rich.|Head. cytoplasm|intermediate filament structural molecule activity NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 30 Breast(137;0.000301) GCCCAAGCCCCCTCCCAAGGC 0.577000 63 105 0 0 1 0 0 REPS2 9185 broad.mit.edu 37 X 17157007 17157007 + Nonsense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chrX:17157007C>T ENST00000357277.3 + 17 2008 c.1837C>T c.(1837-1839)Caa>Taa p.Q613* REPS2_ENST00000469714.1_3'UTR|REPS2_ENST00000303843.7_Nonsense_Mutation_p.Q612*|REPS2_ENST00000380064.4_Nonsense_Mutation_p.Q412* NM_001080975.1|NM_004726.2 NP_001074444.1|NP_004717.2 Q8NFH8 REPS2_HUMAN RALBP1 associated Eps domain containing 2 613 Interaction with ASAP1 (By similarity).|Interaction with RALBP1. epidermal growth factor receptor signaling pathway|protein complex assembly cytoplasm calcium ion binding|protein binding central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(2)|skin(3)|urinary_tract(1) 17 Hepatocellular(33;0.183) GAAGGCCATTCAAACTGCTAT 0.473000 24 3 0 0 1 0 0 SUCNR1 56670 broad.mit.edu 37 3 151598736 151598736 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:151598736G>A ENST00000362032.4 + 3 510 c.405G>A c.(403-405)aaG>aaA p.K135K RP11-454C18.2_ENST00000483843.2_RNA|RP11-454C18.2_ENST00000475855.1_RNA NM_033050.4 NP_149039.2 Q9BXA5 SUCR1_HUMAN succinate receptor 1 135 integral to membrane|plasma membrane purinergic nucleotide receptor activity, G-protein coupled endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 14 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813) Succinic acid(DB00139) TTCTGCAAAAGAAAGAGTTTG 0.363000 43 134 0 0 1 0 0 CCDC60 160777 broad.mit.edu 37 12 119943038 119943038 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:119943038G>A ENST00000327554.2 + 7 1278 c.813G>A c.(811-813)gtG>gtA p.V271V RP11-768F21.1_ENST00000509470.2_lincRNA NM_178499.3 NP_848594.2 Q8IWA6 CCD60_HUMAN coiled-coil domain containing 60 271 endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 40 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) BRCA - Breast invasive adenocarcinoma(302;0.207) ACACCCAGGTGACCAGCAGCA 0.532000 76 204 0 0 1 0 0 OR5B2 390190 broad.mit.edu 37 11 58190609 58190609 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:58190609C>T ENST00000302581.2 - 1 177 c.126G>A c.(124-126)ggG>ggA p.G42G NM_001005566.2 NP_001005566.1 Q96R09 OR5B2_HUMAN olfactory receptor, family 5, subfamily B, member 2 42 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 Esophageal squamous(5;0.0027) Breast(21;0.0778) GCAACATCATCCCCAGGTTCC 0.483000 52 102 0 0 1 0 0 UBE2U 148581 broad.mit.edu 37 1 64680513 64680513 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:64680513C>T ENST00000371077.4 + 5 779 c.355C>T c.(355-357)Cca>Tca p.P119S UBE2U_ENST00000371076.3_Missense_Mutation_p.P119S Q5VVX9 UBE2U_HUMAN ubiquitin-conjugating enzyme E2U (putative) 119 ATP binding|protein binding|ubiquitin-protein ligase activity large_intestine(3)|lung(2)|skin(1) 6 GCTTTCTAATCCAGTGCTAGA 0.333000 42 89 0 0 1 0 0 SYNPO2L 79933 broad.mit.edu 37 10 75407213 75407213 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:75407213C>T ENST00000394810.2 - 4 2346 c.2197G>A c.(2197-2199)Ggg>Agg p.G733R SYNPO2L_ENST00000372872.4_Intron|SYNPO2L_ENST00000372873.4_Missense_Mutation_p.G509R NM_001114133.1 NP_001107605.1 Q9H987 SYP2L_HUMAN synaptopodin 2-like 733 Pro-rich. cytoplasm|cytoskeleton actin binding breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 Prostate(51;0.0112) TCAAGGAGCCCTCGAGATGGG 0.632000 61 120 0 0 1 0 0 PEX26 55670 broad.mit.edu 37 22 18562716 18562716 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr22:18562716C>T ENST00000329627.6 + 3 513 c.307C>T c.(307-309)Ctc>Ttc p.L103F PEX26_ENST00000428061.2_Missense_Mutation_p.L103F|PEX26_ENST00000399744.3_Missense_Mutation_p.L103F NM_017929.5 NP_060399.1 Q7Z412 PEX26_HUMAN peroxisomal biogenesis factor 26 103 protein import into peroxisome matrix|protein import into peroxisome membrane integral to peroxisomal membrane protein C-terminus binding|protein complex binding breast(1)|kidney(2)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 13 GCAAGAAGTCCTCTCCTGGGT 0.517000 34 69 0 0 1 0 0 CDK2 1017 broad.mit.edu 37 12 56365000 56365000 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:56365000C>T ENST00000266970.4 + 6 1001 c.761C>T c.(760-762)cCc>cTc p.P254L CDK2_ENST00000440311.2_Missense_Mutation_p.P194L|CDK2_ENST00000354056.4_Missense_Mutation_p.P220L|CDK2_ENST00000556656.1_3'UTR|CDK2_ENST00000553376.1_Missense_Mutation_p.P302L NM_001798.3 NP_001789.2 P24941 CDK2_HUMAN cyclin-dependent kinase 2 254 Protein kinase. anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|blood coagulation|cell division|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA replication|G1/S transition of mitotic cell cycle|G2 phase of mitotic cell cycle|G2/M transition of mitotic cell cycle|histone phosphorylation|M/G1 transition of mitotic cell cycle|mitosis|positive regulation of cell proliferation|Ras protein signal transduction|regulation of DNA replication|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|traversing start control point of mitotic cell cycle cyclin-dependent protein kinase holoenzyme complex|cytosol ATP binding|cyclin-dependent protein kinase activity|identical protein binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 18 UCEC - Uterine corpus endometrioid carcinoma (6;0.123)|OV - Ovarian serous cystadenocarcinoma(18;0.235) GTTGTACCTCCCCTGGATGAA 0.512000 94 227 0 0 1 0 0 RPL31P11 641311 broad.mit.edu 37 1 161654946 161654946 + RNA SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:161654946C>T ENST00000426558.1 - 0 96 NR_002595.1 GTCACCACCTCGTTGATGGCA 0.537000 30 32 0 0 1 0 0 BPIFB2 80341 broad.mit.edu 37 20 31608349 31608349 + Splice_Site SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr20:31608349G>A ENST00000170150.3 + 13 1345 c.1148_splice c.e13-1 p.D384_splice NM_025227.1 NP_079503.1 Q8N4F0 BPIL1_HUMAN BPI fold containing family B, member 2 384 extracellular region lipid binding CTCTTTCAGGGATGTCCAGCT 0.612000 36 114 0 0 1 0 0 KRTAP3-3 85293 broad.mit.edu 37 17 39150152 39150152 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:39150152G>A ENST00000391586.1 - 1 233 c.198C>T c.(196-198)ttC>ttT p.F66F NM_033185.2 NP_149441.1 Q9BYR6 KRA33_HUMAN keratin associated protein 3-3 66 keratin filament structural molecule activity lung(2)|prostate(2) 4 Breast(137;0.00043) AGTTGAGCAGGAAGCAGGTGG 0.617000 26 89 0 0 1 0 0 PSG8 440533 broad.mit.edu 37 19 43262320 43262320 + Nonsense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:43262320C>T ENST00000404209.4 - 3 639 c.543G>A c.(541-543)tgG>tgA p.W181* PSG8_ENST00000306511.4_Nonsense_Mutation_p.W181*|PSG8_ENST00000600709.1_5'UTR|PSG8_ENST00000406636.3_Nonsense_Mutation_p.W59*|PSG8_ENST00000401467.2_Intron NM_001130167.1 NP_001123639.1 Q9UQ74 PSG8_HUMAN pregnancy specific beta-1-glycoprotein 8 181 Ig-like C2-type 1. extracellular region breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 40 Prostate(69;0.00899) GACCATTCATCCACCACAGGT 0.532000 182 362 0 0 1 0 0 SPEN 23013 broad.mit.edu 37 1 16257642 16257642 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:16257642C>T ENST00000375759.3 + 11 5111 c.4907C>T c.(4906-4908)tCc>tTc p.S1636F NM_015001.2 NP_055816.2 Q96T58 MINT_HUMAN spen family transcriptional repressor 1636 interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway nucleus nucleotide binding|protein binding|RNA binding NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1) 149 Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681) ACTCCACCTTCCGTTGGGCCT 0.473000 136 236 0 0 1 0 0 ZNF638 27332 broad.mit.edu 37 2 71576391 71576391 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:71576391C>T ENST00000409544.1 + 2 937 c.307C>T c.(307-309)Cgg>Tgg p.R103W ZNF638_ENST00000377802.2_Missense_Mutation_p.R103W|ZNF638_ENST00000355812.3_Missense_Mutation_p.R103W|ZNF638_ENST00000410075.1_3'UTR|ZNF638_ENST00000264447.4_Missense_Mutation_p.R103W NM_001252612.1 NP_001239541.1 Q14966 ZN638_HUMAN zinc finger protein 638 103 RNA splicing cytoplasm|nuclear speck double-stranded DNA binding|nucleotide binding|RNA binding|zinc ion binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1) 63 TCATGGTAGCCGGTGGGATGA 0.453000 25 103 0 0 1 0 0 AR 367 broad.mit.edu 37 X 66941716 66941716 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chrX:66941716G>A ENST00000374690.3 + 6 2884 c.2360G>A c.(2359-2361)cGa>cAa p.R787Q AR_ENST00000396043.2_Missense_Mutation_p.R255Q|AR_ENST00000396044.3_Intron NM_000044.3 NP_000035.2 P10275 ANDR_HUMAN androgen receptor 786 Interaction with MYST2.|Ligand-binding. M -> V (in AIS). cell death|cell growth|cell proliferation|cell-cell signaling|negative regulation of apoptosis|negative regulation of integrin biosynthetic process|positive regulation of cell proliferation|positive regulation of integrin biosynthetic process|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|regulation of establishment of protein localization in plasma membrane|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transport cytoplasm|nuclear chromatin|nucleoplasm androgen binding|androgen receptor activity|beta-catenin binding|enzyme binding|ligand-regulated transcription factor activity|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding p.R597Q(1)|p.R787Q(1) breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3) 67 all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102) all_lung(315;1.3e-11) Bicalutamide(DB01128)|Cyproterone(DB04839)|Dromostanolone(DB00858)|Finasteride(DB01216)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Nandrolone(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Testosterone(DB00624) CAGTGTGTCCGAATGAGGCAC 0.498000 Androgen Insensitivity Syndrome 52 20 0 0 1 0 0 GIMAP1 170575 broad.mit.edu 37 7 150417194 150417194 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:150417194G>A ENST00000307194.5 + 3 242 c.102G>A c.(100-102)ggG>ggA p.G34G NM_130759.3 NP_570115.1 GTPase, IMAP family member 1 NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 28 OV - Ovarian serous cystadenocarcinoma(82;0.0145) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) TCCTTGTTGGGAGAACAGGGG 0.572000 95 374 0 0 1 0 0 PCLO 27445 broad.mit.edu 37 7 82544911 82544911 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:82544911C>T ENST00000423517.2 - 7 12728 c.12391G>A c.(12391-12393)Gaa>Aaa p.E4131K PCLO_ENST00000333891.8_Missense_Mutation_p.E4131K|PCLO_ENST00000437081.1_Missense_Mutation_p.E851K NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 4062 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 CTACGAAATTCCTGTTTAATC 0.403000 22 107 0 0 1 0 0 ZFYVE16 9765 broad.mit.edu 37 5 79747488 79747488 + Missense_Mutation SNP T T A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:79747488T>A ENST00000338008.5 + 10 3747 c.3567T>A c.(3565-3567)ttT>ttA p.F1189L ZFYVE16_ENST00000505560.1_Missense_Mutation_p.F1189L|ZFYVE16_ENST00000510158.1_Missense_Mutation_p.F1189L NM_014733.3 NP_055548.3 Q7Z3T8 ZFY16_HUMAN zinc finger, FYVE domain containing 16 1189 BMP signaling pathway|endosome transport|protein targeting to lysosome|regulation of endocytosis|vesicle organization early endosome membrane 1-phosphatidylinositol binding|metal ion binding|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|protein transporter activity breast(4)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|liver(1)|lung(6)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 51 Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261) OV - Ovarian serous cystadenocarcinoma(54;1.6e-46)|Epithelial(54;2.02e-41)|all cancers(79;5.05e-36) CAAAGGTTTTTCCTATGCGTT 0.328000 14 135 0 0 1 0 0 LOC101927079 101927079 broad.mit.edu 37 15 22383525 22383525 + RNA SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr15:22383525G>A ENST00000558896.1 + 0 2034 caatggagGAGAGTTATGCAT 0.358000 4 4 0 0 1 0 0 SEZ6L 23544 broad.mit.edu 37 22 26689016 26689016 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr22:26689016G>A ENST00000529632.2 + 2 935 c.739G>A c.(739-741)Gag>Aag p.E247K SEZ6L_ENST00000248933.6_Missense_Mutation_p.E247K|SEZ6L_ENST00000402979.1_Missense_Mutation_p.E20K|SEZ6L_ENST00000403121.1_Missense_Mutation_p.E20K|SEZ6L_ENST00000343706.4_Missense_Mutation_p.E247K|SEZ6L_ENST00000404234.3_Missense_Mutation_p.E247K|SEZ6L_ENST00000360929.3_Missense_Mutation_p.E247K NM_001184774.1|NM_001184775.1|NM_001184777.1 NP_001171703.1|NP_001171704.1|NP_001171706.1 Q9BYH1 SE6L1_HUMAN seizure related 6 homolog (mouse)-like 247 endoplasmic reticulum membrane|integral to membrane breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 80 GGACAAAGGTGAGAATGAGCT 0.632000 27 47 0 0 1 0 0 GPR61 83873 broad.mit.edu 37 1 110086556 110086556 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:110086556C>T ENST00000527748.1 + 2 1595 c.912C>T c.(910-912)ttC>ttT p.F304F NM_031936.4 NP_114142.3 Q9BZJ8 GPR61_HUMAN G protein-coupled receptor 61 304 integral to membrane|plasma membrane G-protein coupled receptor activity breast(1)|central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(9)|stomach(1)|urinary_tract(1) 23 all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244) Lung(183;0.0426)|Colorectal(144;0.11)|Epithelial(280;0.128)|all cancers(265;0.132)|LUSC - Lung squamous cell carcinoma(189;0.228) TGCCCTACTTCTCTTTCCACC 0.577000 64 112 0 0 1 0 0 SLC1A6 6511 broad.mit.edu 37 19 15063742 15063742 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:15063742G>A ENST00000430939.2 - 8 1434 c.1305C>T c.(1303-1305)ttC>ttT p.F435F SLC1A6_ENST00000221742.3_Silent_p.F499F|SLC1A6_ENST00000600144.1_Silent_p.F421F P48664 EAA4_HUMAN solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6 499 synaptic transmission integral to plasma membrane|membrane fraction high-affinity glutamate transmembrane transporter activity|L-aspartate transmembrane transporter activity|sodium:dicarboxylate symporter activity breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 42 L-Glutamic Acid(DB00142) ACACTCACAGGAACCAGTCCA 0.572000 50 82 0 0 1 0 0 IGSF1 3547 broad.mit.edu 37 X 130411920 130411920 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chrX:130411920C>T ENST00000370904.1 - 19 3113 c.2203G>A c.(2203-2205)Gac>Aac p.D735N IGSF1_ENST00000370910.1_Missense_Mutation_p.D735N|IGSF1_ENST00000361420.3_Missense_Mutation_p.D744N|IGSF1_ENST00000370903.3_Missense_Mutation_p.D749N Q8N6C5 IGSF1_HUMAN immunoglobulin superfamily, member 1 744 Ig-like C2-type 7. regulation of transcription, DNA-dependent extracellular region|integral to membrane inhibin beta-A binding|inhibin beta-B binding breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2) 78 TTGCCTTCGTCTTTATCCTCC 0.502000 54 23 0 0 1 0 0 PRR14L 253143 broad.mit.edu 37 22 32108110 32108110 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr22:32108110G>A ENST00000327423.6 - 4 5904 c.5715C>T c.(5713-5715)tcC>tcT p.S1905S PRR14L_ENST00000397493.2_Silent_p.S1905S|PRR14L_ENST00000434485.1_Silent_p.S1905S NM_173566.2 NP_775837.2 Q5THK1 PR14L_HUMAN proline rich 14-like 1905 endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(5)|skin(1)|urinary_tract(2) 14 TGCAGTGAGGGGAATGAAGAG 0.512000 45 96 0 0 1 0 0 ABLIM2 84448 broad.mit.edu 37 4 8037886 8037886 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:8037886C>T ENST00000318888.4 - 10 1179 c.308G>A c.(307-309)aGc>aAc p.S103N ABLIM2_ENST00000361737.5_Missense_Mutation_p.S346N|ABLIM2_ENST00000296372.8_Missense_Mutation_p.S346N|ABLIM2_ENST00000341937.5_Missense_Mutation_p.S346N|ABLIM2_ENST00000514025.1_Missense_Mutation_p.S103N|ABLIM2_ENST00000407564.3_Missense_Mutation_p.S346N|ABLIM2_ENST00000546334.1_Missense_Mutation_p.S346N|ABLIM2_ENST00000361581.5_Missense_Mutation_p.S346N|ABLIM2_ENST00000515079.1_5'UTR|ABLIM2_ENST00000545242.1_Missense_Mutation_p.S346N|ABLIM2_ENST00000505872.1_Missense_Mutation_p.S346N|ABLIM2_ENST00000447017.2_Missense_Mutation_p.S346N|ABLIM2_ENST00000428004.2_Missense_Mutation_p.S346N Q6H8Q1 ABLM2_HUMAN actin binding LIM protein family, member 2 346 LIM zinc-binding 2. axon guidance|cytoskeleton organization actin cytoskeleton|cytoplasm|intermediate filament cytoskeleton|nucleus actin binding|zinc ion binding NS(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|pancreas(3)|prostate(2)|urinary_tract(1) 25 CTCGCCGTAGCTCTGCCTGTC 0.592000 15 29 0 0 1 0 0 TMEM176A 55365 broad.mit.edu 37 7 150498676 150498676 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:150498676C>T ENST00000484928.1 + 2 619 c.38C>T c.(37-39)gCc>gTc p.A13V TMEM176A_ENST00000004103.3_Missense_Mutation_p.A13V|TMEM176A_ENST00000461345.1_Intron Q96HP8 T176A_HUMAN transmembrane protein 176A 13 integral to membrane breast(1)|endometrium(1)|lung(7)|ovary(2)|stomach(1) 12 OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) GCCCCGGAGGCCCCACAGCAC 0.622000 15 102 0 0 1 0 0 LDB2 9079 broad.mit.edu 37 4 16504291 16504291 + Missense_Mutation SNP T T A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:16504291T>A ENST00000304523.5 - 8 1420 c.1097A>T c.(1096-1098)aAc>aTc p.N366I LDB2_ENST00000441778.2_3'UTR|LDB2_ENST00000502640.1_3'UTR|RP11-446J8.1_ENST00000512370.1_RNA|LDB2_ENST00000515064.1_Missense_Mutation_p.N364I NM_001290.3 NP_001281.1 O43679 LDB2_HUMAN LIM domain binding 2 366 LIM domain binding|transcription cofactor activity breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(23)|urinary_tract(1) 33 GGGTGGGGGGTTTTCTGATTT 0.522000 129 212 0 0 1 0 0 MYO5B 4645 broad.mit.edu 37 18 47402141 47402141 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr18:47402141C>T ENST00000285039.7 - 26 3752 c.3453G>A c.(3451-3453)aaG>aaA p.K1151K MYO5B_ENST00000324581.6_Silent_p.K292K|MYO5B_ENST00000587895.1_5'UTR NM_001080467.2 NP_001073936.1 Q9ULV0 MYO5B_HUMAN myosin VB 1151 protein transport myosin complex actin binding|ATP binding|calmodulin binding|motor activity NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4) 87 READ - Rectum adenocarcinoma(32;0.103) CCCGTACTCTCTTCTGCAGCT 0.507000 10 168 0 0 1 0 0 MTM1 4534 broad.mit.edu 37 X 149814260 149814260 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chrX:149814260C>T ENST00000370396.2 + 9 837 c.783C>T c.(781-783)ctC>ctT p.L261L MTM1_ENST00000413012.2_Silent_p.L224L|MTM1_ENST00000542741.1_Silent_p.L166L|MTM1_ENST00000306167.7_3'UTR|MTM1_ENST00000543350.1_Silent_p.L146L NM_000252.2 NP_000243.1 Q13496 MTM1_HUMAN myotubularin 1 261 Myotubularin phosphatase. endosome to lysosome transport|intermediate filament organization|mitochondrion distribution|mitochondrion morphogenesis|phosphatidylinositol dephosphorylation|protein transport|regulation of vacuole organization filopodium|late endosome|plasma membrane|ruffle intermediate filament binding|phosphatidylinositol binding|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 Acute lymphoblastic leukemia(192;6.56e-05) AGAAATATCTCGATGTTATCA 0.408000 4 84 0 0 1 0 0 PNKP 11284 broad.mit.edu 37 19 50367263 50367263 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:50367263G>A ENST00000322344.3 - 7 811 c.702C>T c.(700-702)gcC>gcT p.A234A PNKP_ENST00000600910.1_Silent_p.A234A|PNKP_ENST00000596014.1_Silent_p.A234A|PNKP_ENST00000600573.1_Silent_p.A234A NM_007254.3 NP_009185.2 Q96T60 PNKP_HUMAN polynucleotide kinase 3'-phosphatase 234 DNA damage response, detection of DNA damage|DNA-dependent DNA replication|nucleotide-excision repair, DNA damage removal|response to oxidative stress|response to radiation nucleolus ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|damaged DNA binding|double-stranded DNA binding|endonuclease activity|nucleotide kinase activity|polynucleotide 3'-phosphatase activity|protein binding breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|urinary_tract(1) 19 all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231) GBM - Glioblastoma multiforme(134;0.0118)|OV - Ovarian serous cystadenocarcinoma(262;0.0134) CCTCCACCTTGGCCTTGAACT 0.632000 Other BER factors 23 55 0 0 1 0 0 IGFBP7 3490 broad.mit.edu 37 4 57907079 57907079 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:57907079G>A ENST00000295666.4 - 2 529 c.496C>T c.(496-498)Ccc>Tcc p.P166S IGFBP7_ENST00000537922.1_Missense_Mutation_p.P166S|IGFBP7_ENST00000512512.1_5'UTR NM_001553.2 NP_001544.1 Q16270 IBP7_HUMAN insulin-like growth factor binding protein 7 166 Ig-like C2-type. cell adhesion|negative regulation of cell proliferation|regulation of cell growth extracellular space insulin-like growth factor binding central_nervous_system(1)|endometrium(1)|lung(3) 5 Glioma(25;0.08)|all_neural(26;0.181) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) ATGTCCTTGGGGGGCGTCACT 0.502000 9 34 0 0 1 0 0 BAIAP3 8938 broad.mit.edu 37 16 1389152 1389152 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr16:1389152G>A ENST00000397488.2 + 4 375 c.258G>A c.(256-258)ggG>ggA p.G86G BAIAP3_ENST00000568887.1_Intron|BAIAP3_ENST00000562208.1_Intron|BAIAP3_ENST00000421665.2_Intron|BAIAP3_ENST00000426824.3_Intron|BAIAP3_ENST00000324385.5_Intron|BAIAP3_ENST00000397489.1_Silent_p.G86G O94812 BAIP3_HUMAN BAI1-associated protein 3 108 G-protein coupled receptor protein signaling pathway|neurotransmitter secretion protein C-terminus binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(25)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 42 Hepatocellular(780;0.0893) CTCACCCTGGGCCCCACACAC 0.716000 7 7 0 0 1 0 0 FSIP1 161835 broad.mit.edu 37 15 40030403 40030403 + Splice_Site SNP C C A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr15:40030403C>A ENST00000350221.3 - 8 990 c.e8-1 NM_152597.4 NP_689810.3 Q8NA03 FSIP1_HUMAN fibrous sheath interacting protein 1 NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1) 23 all_cancers(109;2.66e-19)|all_epithelial(112;2.66e-16)|Lung NSC(122;1.5e-11)|all_lung(180;4.03e-10)|Melanoma(134;0.0575)|Ovarian(310;0.0827)|Colorectal(260;0.119) GBM - Glioblastoma multiforme(113;8.22e-06)|BRCA - Breast invasive adenocarcinoma(123;0.142) CCTTGGCCAACTACAGAATTT 0.378000 37 75 1.66425e-11 1.67549e-11 1 1 0 INADL 10207 broad.mit.edu 37 1 62393442 62393442 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:62393442C>T ENST00000371158.2 + 27 3725 c.3611C>T c.(3610-3612)cCt>cTt p.P1204L INADL_ENST00000316485.6_Missense_Mutation_p.P1204L NM_176877.2 NP_795352.2 Q8NI35 INADL_HUMAN InaD-like (Drosophila) 1204 intracellular signal transduction|tight junction assembly apical plasma membrane|perinuclear region of cytoplasm|tight junction protein binding breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3) 103 CTTCCTCCTCCTTATAAAGCT 0.413000 5 73 0 0 1 0 0 MON2 23041 broad.mit.edu 37 12 62892708 62892708 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:62892708C>T ENST00000393630.3 + 5 836 c.445C>T c.(445-447)Ctt>Ttt p.L149F MON2_ENST00000552738.1_Missense_Mutation_p.L149F|MON2_ENST00000280379.6_Missense_Mutation_p.L149F|MON2_ENST00000393632.2_Missense_Mutation_p.L149F|MON2_ENST00000549378.1_3'UTR|MON2_ENST00000546600.1_Missense_Mutation_p.L149F|MON2_ENST00000552115.1_Missense_Mutation_p.L149F|MON2_ENST00000393629.2_Missense_Mutation_p.L149F NM_001278470.1|NM_001278472.1 NP_001265399.1|NP_001265401.1 Q7Z3U7 MON2_HUMAN MON2 homolog (S. cerevisiae) 149 Golgi to endosome transport|protein transport cytoplasm ARF guanyl-nucleotide exchange factor activity|binding NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(15)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 57 BRCA - Breast invasive adenocarcinoma(9;0.218) GBM - Glioblastoma multiforme(28;0.128) GGCAATCGTTCTTTGTTTTCG 0.318000 16 97 0 0 1 0 0 RNF217 154214 broad.mit.edu 37 6 125397962 125397962 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:125397962G>A ENST00000521654.2 + 4 1441 c.1441G>A c.(1441-1443)Gag>Aag p.E481K RNF217_ENST00000368414.2_Missense_Mutation_p.E43K|RNF217_ENST00000560949.1_Missense_Mutation_p.E246K|RNF217_ENST00000359704.2_Missense_Mutation_p.E189K|RNF217_ENST00000275184.6_Missense_Mutation_p.E125K Q8TC41 RN217_HUMAN ring finger protein 217 189 protein ubiquitination involved in ubiquitin-dependent protein catabolic process integral to membrane ubiquitin-protein ligase activity|zinc ion binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(1) 11 LUSC - Lung squamous cell carcinoma(4;0.0263)|Lung(4;0.0828) GBM - Glioblastoma multiforme(226;0.0162) CTACCTCCCAGAGAGACCTCA 0.438000 53 126 0 0 1 0 0 ALDH1A2 8854 broad.mit.edu 37 15 58287303 58287303 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr15:58287303G>A ENST00000249750.4 - 5 1295 c.528C>T c.(526-528)ccC>ccT p.P176P ALDH1A2_ENST00000537372.1_Silent_p.P155P|ALDH1A2_ENST00000347587.3_Silent_p.P176P|ALDH1A2_ENST00000559517.1_Silent_p.P80P|ALDH1A2_ENST00000558231.1_Silent_p.P147P NM_003888.3 NP_003879.2 O94788 AL1A2_HUMAN aldehyde dehydrogenase 1 family, member A2 176 negative regulation of cell proliferation|neural tube development|response to cytokine stimulus nucleus 3-chloroallyl aldehyde dehydrogenase activity|retinal binding|retinal dehydrogenase activity NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|prostate(1)|upper_aerodigestive_tract(1) 31 GBM - Glioblastoma multiforme(80;0.152)|all cancers(107;0.18) NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162) ACACTCCAATGGGTTCATGTC 0.383000 50 131 0 0 1 0 0 STRA8 346673 broad.mit.edu 37 7 134925346 134925346 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:134925346G>A ENST00000275764.3 + 2 136 c.136G>A c.(136-138)Gag>Aag p.E46K NM_182489.1 NP_872295.1 Q7Z7C7 STRA8_HUMAN stimulated by retinoic acid 8 46 DNA replication|regulation of transcription, DNA-dependent cytoplasm|nucleus breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|skin(1)|urinary_tract(1) 16 ACAGCTGCAGGAGCTTGAGCA 0.552000 57 196 0 0 1 0 0 CASK 8573 broad.mit.edu 37 X 41524613 41524613 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chrX:41524613G>A ENST00000318588.9 - 7 670 c.625C>T c.(625-627)Ctt>Ttt p.L209F CASK_ENST00000378158.1_Missense_Mutation_p.L209F|CASK_ENST00000442742.2_Missense_Mutation_p.L209F|CASK_ENST00000378166.4_Missense_Mutation_p.L209F|CASK_ENST00000378163.1_Missense_Mutation_p.L209F|CASK_ENST00000361962.4_Missense_Mutation_p.L209F|CASK_ENST00000421587.2_Missense_Mutation_p.L209F|CASK_ENST00000378154.1_Missense_Mutation_p.L209F O14936 CSKP_HUMAN calcium/calmodulin-dependent serine protein kinase (MAGUK family) 209 Protein kinase. cell adhesion actin cytoskeleton|cytoplasm|nucleus|plasma membrane ATP binding|calmodulin binding|guanylate kinase activity|protein serine/threonine kinase activity breast(3)|endometrium(5)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|ovary(3)|prostate(1)|stomach(1) 32 AGGATAAAAAGGATCACACCG 0.423000 4 23 0 0 1 0 0 NXPH2 11249 broad.mit.edu 37 2 139429122 139429122 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:139429122G>A ENST00000272641.3 - 2 271 c.165C>T c.(163-165)ccC>ccT p.P55P NM_007226.2 NP_009157.1 O95156 NXPH2_HUMAN neurexophilin 2 55 II. neuropeptide signaling pathway extracellular region endometrium(1)|large_intestine(3)|lung(6)|ovary(3)|prostate(3)|skin(3)|urinary_tract(3) 22 BRCA - Breast invasive adenocarcinoma(221;0.101) ACAGGCGCAGGGGACTGATGA 0.577000 67 123 0 0 1 0 0 ANGPTL1 9068 broad.mit.edu 37 1 178834811 178834811 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:178834811C>T ENST00000234816.2 - 3 548 c.101G>A c.(100-102)aGa>aAa p.R34K RALGPS2_ENST00000324778.4_Intron|RALGPS2_ENST00000367635.3_Intron|RALGPS2_ENST00000367634.2_Intron|ANGPTL1_ENST00000367629.1_Missense_Mutation_p.R34K NM_004673.3 NP_004664.1 O95841 ANGL1_HUMAN angiopoietin-like 1 34 extracellular space receptor binding breast(2)|endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1) 14 AGGGTATCTTCTCTGGTTTAT 0.418000 56 48 0 0 1 0 0 KDM6B 23135 broad.mit.edu 37 17 7752247 7752247 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:7752247G>A ENST00000254846.5 + 11 3030 c.2641G>A c.(2641-2643)Gag>Aag p.E881K KDM6B_ENST00000448097.2_Missense_Mutation_p.E881K NM_001080424.1 NP_001073893.1 O15054 KDM6B_HUMAN lysine (K)-specific demethylase 6B 881 Pro-rich. inflammatory response nucleus metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5) 37 CTGGGCCCGGGAGCGCAGGGC 0.716000 19 29 0 0 1 0 0 TMEM70 54968 broad.mit.edu 37 8 74891051 74891051 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:74891051G>A ENST00000312184.5 + 2 344 c.271G>A c.(271-273)Gat>Aat p.D91N TMEM70_ENST00000517439.1_Missense_Mutation_p.D91N NM_001040613.2|NM_017866.5 NP_001035703.1|NP_060336.3 Q9BUB7 TMM70_HUMAN transmembrane protein 70 91 mitochondrial proton-transporting ATP synthase complex assembly integral to mitochondrial membrane|mitochondrial inner membrane breast(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|skin(1) 8 Breast(64;0.0311) Epithelial(68;0.0186)|BRCA - Breast invasive adenocarcinoma(89;0.0499)|all cancers(69;0.0564) CAAATCAGAAGATGGAAGGCT 0.363000 9 78 0 0 1 0 0 CLMN 79789 broad.mit.edu 37 14 95679636 95679636 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr14:95679636C>T ENST00000298912.4 - 6 641 c.528G>A c.(526-528)gaG>gaA p.E176E NM_024734.3 NP_079010.2 Q96JQ2 CLMN_HUMAN calmin (calponin-like, transmembrane) 176 Actin-binding. integral to membrane actin binding central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(17)|prostate(3)|skin(3) 44 Epithelial(152;0.193) CCACGCTCCTCTCTGCAGTGG 0.577000 53 99 0 0 1 0 0 GZMK 3003 broad.mit.edu 37 5 54320498 54320498 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:54320498G>A ENST00000231009.2 + 2 145 c.75G>A c.(73-75)atG>atA p.M25I CTD-2313F11.1_ENST00000596137.1_RNA|CTD-2313F11.1_ENST00000596909.1_RNA|CTD-2313F11.1_ENST00000595218.1_RNA NM_002104.2 NP_002095.1 P49863 GRAK_HUMAN granzyme K (granzyme 3; tryptase II) 25 proteolysis extracellular region serine-type endopeptidase activity autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4) 15 Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.183) GTTTCAATATGGAAATTATTG 0.383000 16 43 0 0 1 0 0 SPATA31E1 286234 broad.mit.edu 37 9 90500303 90500303 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:90500303G>A ENST00000325643.5 + 4 967 c.901G>A c.(901-903)Gat>Aat p.D301N NM_178828.4 NP_849150.3 SPATA31 subfamily E, member 1 GTGCTCCAGCGATCCCATCTG 0.632000 18 35 0 0 1 0 0 SPATA31D5P 347127 broad.mit.edu 37 9 84531008 84531008 + RNA SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:84531008C>T ENST00000527857.1 + 0 1030 NR_026851.1 GAGATGTTATCTCTAGGTAGT 0.493000 5 9 0 0 1 0 0 DMP1 1758 broad.mit.edu 37 4 88580373 88580373 + Splice_Site SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:88580373G>A ENST00000339673.6 + 4 203 c.102_splice c.e4-1 p.G35_splice RP11-742B18.1_ENST00000506480.1_RNA|DMP1_ENST00000282479.7_Splice_Site_p.G35_splice|RP11-742B18.1_ENST00000506814.1_RNA|RP11-742B18.1_ENST00000507894.1_RNA NM_004407.3 NP_004398.1 Q13316 DMP1_HUMAN dentin matrix acidic phosphoprotein 1 35 biomineral tissue development|ossification cytoplasm|nucleus|proteinaceous extracellular matrix calcium ion binding|integrin binding breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(1)|stomach(1) 32 Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.227) OV - Ovarian serous cystadenocarcinoma(123;0.000516) TTTTTGCAGGGTCATTTGGCT 0.333000 22 73 0 0 1 0 0 PIK3C2G 5288 broad.mit.edu 37 12 18715664 18715664 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:18715664C>T ENST00000433979.1 + 26 3611 c.3495C>T c.(3493-3495)ttC>ttT p.F1165F PIK3C2G_ENST00000538779.1_Silent_p.F1206F|PIK3C2G_ENST00000266497.5_Silent_p.F1165F NM_004570.4 NP_004561.3 O75747 P3C2G_HUMAN phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma 1165 PI3K/PI4K. cell communication|phosphatidylinositol-mediated signaling membrane|phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1) 66 Hepatocellular(102;0.194) TGGAGTGTTTCCCTGTTAAAT 0.383000 6 9 0 0 1 0 0 WNT16 51384 broad.mit.edu 37 7 120978974 120978974 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:120978974G>A ENST00000222462.2 + 4 963 c.673G>A c.(673-675)Gga>Aga p.G225R WNT16_ENST00000361301.2_Missense_Mutation_p.G215R NM_057168.1 NP_476509.1 Q9UBV4 WNT16_HUMAN wingless-type MMTV integration site family, member 16 225 anterior/posterior pattern formation|axis specification|axonogenesis|canonical Wnt receptor signaling pathway|keratinocyte differentiation|keratinocyte proliferation|negative regulation of cell death|optic cup formation involved in camera-type eye development|oxidative stress-induced premature senescence|positive regulation of gene expression|positive regulation of JNK cascade|positive regulation of phosphatidylinositol 3-kinase cascade|replicative senescence|Wnt receptor signaling pathway, calcium modulating pathway cytoplasm|extracellular space|plasma membrane|proteinaceous extracellular matrix frizzled binding|signal transducer activity breast(1)|large_intestine(4)|lung(9)|ovary(3)|prostate(1) 18 all_neural(327;0.117) CCGCTGCCACGGAGTTTCCGG 0.408000 23 100 0 0 1 0 0 DHX9 1660 broad.mit.edu 37 1 182852341 182852341 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:182852341C>T ENST00000367549.3 + 25 3092 c.2982C>T c.(2980-2982)ctC>ctT p.L994L DHX9_ENST00000485081.1_3'UTR NM_001357.4 NP_001348.2 Q08211 DHX9_HUMAN DEAH (Asp-Glu-Ala-His) box helicase 9 994 CRD-mediated mRNA stabilization|nuclear mRNA splicing, via spliceosome centrosome|CRD-mediated mRNA stability complex|nucleolus|nucleoplasm|ribonucleoprotein complex ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|double-stranded RNA binding|protein binding NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2) 49 TTATCTCCCTCCTGGCCTTTG 0.393000 6 207 0 0 1 0 0 BRINP3 339479 broad.mit.edu 37 1 190067402 190067402 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:190067402G>A ENST00000367462.3 - 8 2278 c.2047C>T c.(2047-2049)Ctg>Ttg p.L683L FAM5C_ENST00000534846.1_Silent_p.L581L|FAM5C_ENST00000484105.1_5'UTR NM_199051.1 NP_950252.1 Q76B58 FAM5C_HUMAN 683 extracellular region p.L683M(1) NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2) 164 Prostate(682;0.198) TGCAAAATCAGGTCCCGAATT 0.463000 57 152 0 0 1 0 0 KAT6B 23522 broad.mit.edu 37 10 76788421 76788421 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:76788421C>T ENST00000287239.4 + 18 4328 c.3839C>T c.(3838-3840)cCc>cTc p.P1280L KAT6B_ENST00000372711.1_Missense_Mutation_p.P1097L|KAT6B_ENST00000372714.1_Missense_Mutation_p.P988L|KAT6B_ENST00000372724.1_Missense_Mutation_p.P988L|KAT6B_ENST00000372725.1_Missense_Mutation_p.P988L NM_001256468.1|NM_012330.3 NP_001243397.1|NP_036462.2 Q8WYB5 MYST4_HUMAN K(lysine) acetyltransferase 6B 1280 histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent MOZ/MORF histone acetyltransferase complex|nucleosome DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding CCAGAAACACCCATGGAGCCT 0.498000 13 94 0 0 1 0 0 COL11A1 1301 broad.mit.edu 37 1 103352407 103352407 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:103352407C>T ENST00000358392.2 - 63 5167 c.4850G>A c.(4849-4851)cGa>cAa p.R1617Q COL11A1_ENST00000353414.4_Missense_Mutation_p.R1566Q|COL11A1_ENST00000512756.1_Missense_Mutation_p.R1489Q|COL11A1_ENST00000370096.3_Missense_Mutation_p.R1605Q NM_080629.2 NP_542196.2 P12107 COBA1_HUMAN collagen, type XI, alpha 1 1605 Fibrillar collagen NC1. collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception collagen type XI extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1) 258 all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181) Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248) TTTACAAGTTCGGGCTGGATT 0.433000 5 166 0 0 1 0 0 LRP2 4036 broad.mit.edu 37 2 170175274 170175274 + Missense_Mutation SNP C C A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:170175274C>A ENST00000263816.3 - 3 593 c.308G>T c.(307-309)tGc>tTc p.C103F LRP2_ENST00000443831.1_Missense_Mutation_p.C103F NM_004525.2 NP_004516.2 P98164 LRP2_HUMAN low density lipoprotein receptor-related protein 2 103 LDL-receptor class A 2. C -> R (found in a renal cell carcinoma sample; somatic mutation). hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process coated pit|integral to membrane|lysosome calcium ion binding|receptor activity|SH3 domain binding biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13) 315 STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101) Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013) ACACTTACAGCAATCTTGACG 0.448000 8 100 3.09899e-07 3.11352e-07 1 1 0 SLC10A2 6555 broad.mit.edu 37 13 103718278 103718278 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr13:103718278C>T ENST00000245312.3 - 1 918 c.322G>A c.(322-324)Gga>Aga p.G108R NM_000452.2 NP_000443.1 Q12908 NTCP2_HUMAN solute carrier family 10 (sodium/bile acid cotransporter), member 2 108 bile acid metabolic process|organic anion transport integral to plasma membrane bile acid:sodium symporter activity breast(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 all_neural(89;0.0662)|Medulloblastoma(90;0.163)|Lung SC(71;0.211) GCAGTTCCTCCAGGGCAGCAT 0.507000 12 88 0 0 1 0 0 ZNF239 8187 broad.mit.edu 37 10 44053217 44053217 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:44053217C>T ENST00000306006.6 - 2 963 c.311G>A c.(310-312)aGa>aAa p.R104K ZNF239_ENST00000374446.2_Missense_Mutation_p.R104K|ZNF239_ENST00000535642.1_Missense_Mutation_p.R104K|ZNF239_ENST00000426961.1_Missense_Mutation_p.R104K|ZNF239_ENST00000491188.1_5'UTR NM_005674.2 NP_005665.2 Q16600 ZN239_HUMAN zinc finger protein 239 104 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|RNA binding|zinc ion binding endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 TATCACTTTTCTCTCAGTGCT 0.428000 77 135 0 0 1 0 0 KCNA4 3739 broad.mit.edu 37 11 30034223 30034223 + Translation_Start_Site SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:30034223C>T ENST00000328224.6 - 2 1236 c.3G>A c.(1-3)atG>atA p.M1I NM_002233.3 NP_002224.1 P22459 KCNA4_HUMAN potassium voltage-gated channel, shaker-related subfamily, member 4 1 voltage-gated potassium channel complex potassium ion binding|protein binding|voltage-gated potassium channel activity central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 78 TTGCAACCTCCATGGTGGTGG 0.517000 7 142 0 0 1 0 0 MATN2 4147 broad.mit.edu 37 8 98900385 98900385 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:98900385C>T ENST00000254898.5 + 2 288 c.57C>T c.(55-57)ctC>ctT p.L19L MATN2_ENST00000521689.1_Silent_p.L19L|MATN2_ENST00000520016.1_Silent_p.L19L|MATN2_ENST00000522025.2_Intron|MATN2_ENST00000524308.1_Silent_p.L19L NM_002380.3|NM_030583.2 NP_002371.3|NP_085072.2 O00339 MATN2_HUMAN matrilin 2 19 proteinaceous extracellular matrix calcium ion binding breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(2)|urinary_tract(1) 31 Breast(36;1.43e-06) OV - Ovarian serous cystadenocarcinoma(57;0.244) TCGTCCTCCTCCCTGCCGAGG 0.612000 8 30 0 0 1 0 0 IMPACT 55364 broad.mit.edu 37 18 22023054 22023054 + Missense_Mutation SNP C C T rs141355151 TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr18:22023054C>T ENST00000284202.4 + 7 673 c.532C>T c.(532-534)Cct>Tct p.P178S NM_018439.3 NP_060909.1 Q9P2X3 IMPCT_HUMAN impact RWD domain protein 178 endometrium(1)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(2) 16 all_cancers(21;0.00018)|all_epithelial(16;1.5e-06)|Lung NSC(20;0.0027)|all_lung(20;0.0085)|Colorectal(14;0.0361)|Ovarian(20;0.0991) TCATGGCATTCCTATTACAGA 0.348000 64 132 0 0 1 0 0 UGT3A2 167127 broad.mit.edu 37 5 36049314 36049314 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:36049314C>T ENST00000282507.3 - 4 621 c.520G>A c.(520-522)Gaa>Aaa p.E174K UGT3A2_ENST00000513300.1_Missense_Mutation_p.E140K|UGT3A2_ENST00000545528.1_Intron|UGT3A2_ENST00000504954.1_Intron NM_174914.3 NP_777574.2 Q3SY77 UD3A2_HUMAN UDP glycosyltransferase 3 family, polypeptide A2 174 integral to membrane glucuronosyltransferase activity NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(3) 43 all_lung(31;0.000179) Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) AGCCCAAATTCCAAAGAGCCG 0.448000 31 89 0 0 1 0 0 GLI2 2736 broad.mit.edu 37 2 121746010 121746010 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:121746010C>T ENST00000452319.1 + 14 2580 c.2520C>T c.(2518-2520)ccC>ccT p.P840P GLI2_ENST00000314490.11_Silent_p.P512P|GLI2_ENST00000361492.4_Silent_p.P840P P10070 GLI2_HUMAN GLI family zinc finger 2 840 Ser-rich. axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 Renal(3;0.0496) Prostate(154;0.0623) AGGCCTCGCCCCTGGGCGCCG 0.731000 6 11 0 0 1 0 0 CACNA1A 773 broad.mit.edu 37 19 13423587 13423587 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:13423587C>T ENST00000360228.5 - 12 1563 c.1564G>A c.(1564-1566)Gaa>Aaa p.E522K CACNA1A_ENST00000573710.2_Missense_Mutation_p.E523K NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2 NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2 O00555 CAC1A_HUMAN calcium channel, voltage-dependent, P/Q type, alpha 1A subunit 523 cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion cytoplasm|nucleus syntaxin binding breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1) 42 OV - Ovarian serous cystadenocarcinoma(19;5.07e-21) Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230) AAAATGAATTCTGCATAGTCT 0.438000 25 40 0 0 1 0 0 IZUMO1 284359 broad.mit.edu 37 19 49247724 49247724 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:49247724C>T ENST00000332955.2 - 4 930 c.383G>A c.(382-384)cGa>cAa p.R128Q NM_182575.2 NP_872381.2 Q8IYV9 IZUM1_HUMAN izumo sperm-egg fusion 1 128 fusion of sperm to egg plasma membrane integral to membrane p.R128Q(1) endometrium(4)|kidney(3)|large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 17 all_lung(116;0.000156)|Lung NSC(112;0.000251)|all_epithelial(76;0.000761)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000348)|Epithelial(262;0.019)|GBM - Glioblastoma multiforme(486;0.022) TTTTTGGAATCGAGCAACATA 0.517000 33 86 0 0 1 0 0 ADCY1 107 broad.mit.edu 37 7 45725574 45725574 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:45725574C>T ENST00000297323.7 + 13 2109 c.2087C>T c.(2086-2088)cCt>cTt p.P696L NM_021116.2 NP_066939.1 Q08828 ADCY1_HUMAN adenylate cyclase 1 (brain) 696 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|plasma membrane ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1) 71 Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640) GGCTGCCTGCCTTGGGCCTGG 0.637000 23 47 0 0 1 0 0 NDUFA11 126328 broad.mit.edu 37 19 5896925 5896925 + Missense_Mutation SNP A A G TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:5896925A>G ENST00000418389.2 - 2 258 c.181T>C c.(181-183)Ttc>Ctc p.F61L NDUFA11_ENST00000308961.4_Missense_Mutation_p.F61L|AC024592.12_ENST00000586349.1_Missense_Mutation_p.V59A|FUT5_ENST00000252675.5_5'UTR|NDUFA11_ENST00000592634.1_Missense_Mutation_p.F61L NM_001193375.1 NP_001180304.1 Q86Y39 NDUAB_HUMAN NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 11, 14.7kDa 61 respiratory electron transport chain integral to membrane|mitochondrial respiratory chain complex I protein transporter activity central_nervous_system(1)|lung(1) 2 NADH(DB00157) CCTGCAGTGAACGTGTATTGT 0.607000 6 234 0 0 1 0 0 DDX60 55601 broad.mit.edu 37 4 169195176 169195176 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:169195176G>A ENST00000393743.3 - 17 2654 c.2363C>T c.(2362-2364)tCc>tTc p.S788F NM_017631.5 NP_060101.3 Q8IY21 DDX60_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 60 788 Helicase ATP-binding. ATP binding|ATP-dependent helicase activity|RNA binding breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4) 63 Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132) GBM - Glioblastoma multiforme(119;0.0485) TTTGCCTGAGGACGTTGGGGC 0.517000 10 136 0 0 1 0 0 SPTBN2 6712 broad.mit.edu 37 11 66457403 66457403 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:66457403G>A ENST00000533211.1 - 29 6153 c.5822C>T c.(5821-5823)tCc>tTc p.S1941F SPTBN2_ENST00000529997.1_Missense_Mutation_p.S1941F|SPTBN2_ENST00000309996.2_Missense_Mutation_p.S1941F O15020 SPTN2_HUMAN spectrin, beta, non-erythrocytic 2 1941 actin filament capping|axon guidance|cell death|vesicle-mediated transport cytosol|spectrin actin binding|structural constituent of cytoskeleton autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 74 TAGATCCGCGGAGGACACATC 0.622000 4 127 0 0 1 0 0 MAEL 84944 broad.mit.edu 37 1 166960706 166960706 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:166960706G>A ENST00000367872.4 + 3 561 c.317G>A c.(316-318)gGt>gAt p.G106D MAEL_ENST00000491055.1_3'UTR|MAEL_ENST00000367870.2_Missense_Mutation_p.G75D NM_032858.1 NP_116247.1 Q96JY0 MAEL_HUMAN maelstrom spermatogenic transposon silencer 106 cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|multicellular organismal development|piRNA metabolic process|spermatogenesis piP-body DNA binding breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(12)|skin(4) 28 TCTTTAAAAGGTGATCAAGGT 0.373000 8 204 0 0 1 0 0 SLC39A10 57181 broad.mit.edu 37 2 196544841 196544841 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:196544841C>T ENST00000409086.3 + 2 350 c.75C>T c.(73-75)tgC>tgT p.C25C SLC39A10_ENST00000541054.1_Intron|SLC39A10_ENST00000359634.5_Silent_p.C25C NM_001127257.1 NP_001120729.1 Q9ULF5 S39AA_HUMAN solute carrier family 39 (zinc transporter), member 10 25 zinc ion transport integral to membrane metal ion transmembrane transporter activity breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(16)|pancreas(1)|prostate(1)|skin(2) 34 OV - Ovarian serous cystadenocarcinoma(117;0.221) GCAACCATTGCCATGAAGAAC 0.378000 23 63 0 0 1 0 0 TENM3 55714 broad.mit.edu 37 4 183658019 183658019 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:183658019C>T ENST00000511685.1 + 17 3149 c.3026C>T c.(3025-3027)tCc>tTc p.S1009F TENM3_ENST00000502950.1_3'UTR|TENM3_ENST00000406950.2_Missense_Mutation_p.S1009F teneurin transmembrane protein 3 TACTTGAGTTCCAGAGCTGCA 0.388000 18 28 0 0 1 0 0 BCR 613 broad.mit.edu 37 22 23596118 23596118 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr22:23596118G>A ENST00000305877.8 + 2 2163 c.1412G>A c.(1411-1413)aGg>aAg p.R471K BCR_ENST00000359540.3_Missense_Mutation_p.R471K NM_004327.3 NP_004318.3 P11274 BCR_HUMAN breakpoint cluster region 471 regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol ATP binding|GTPase activator activity|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity BCR/JAK2(6) central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1) 35 AGCAAGGGCAGGGGCAGCCGG 0.667000 T """ABL1, FGFR1, JAK2 """ """CML, ALL, AML""" 16 44 0 0 1 0 0 PTCH2 8643 broad.mit.edu 37 1 45294039 45294039 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:45294039G>A ENST00000447098.2 - 13 1649 c.1638C>T c.(1636-1638)ttC>ttT p.F546F PTCH2_ENST00000372192.3_Silent_p.F546F NM_001166292.1 NP_001159764.1 Q9Y6C5 PTC2_HUMAN patched 2 546 SSD. protein complex assembly|spermatogenesis integral to plasma membrane hedgehog receptor activity NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 50 Acute lymphoblastic leukemia(166;0.155) GGATGGCTGGGAAGACAAGCA 0.642000 Basal Cell Nevus syndrome 22 60 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179597748 179597748 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:179597748G>A ENST00000589042.1 - 55 16379 c.16155C>T c.(16153-16155)ccC>ccT p.P5385P TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Silent_p.P5068P|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000342992.6_Silent_p.P4141P|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 5068 Ig-like 34. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) ACACCCTCATGGGGAGGGAGC 0.473000 17 40 0 0 1 0 0 EBF3 253738 broad.mit.edu 37 10 131640397 131640397 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:131640397G>A ENST00000368648.3 - 13 1400 c.1328C>T c.(1327-1329)tCa>tTa p.S443L EBF3_ENST00000355311.5_Missense_Mutation_p.S452L NM_001005463.2 NP_001005463.1 Q9H4W6 COE3_HUMAN early B-cell factor 3 452 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|metal ion binding|protein binding central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 44 all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764) OV - Ovarian serous cystadenocarcinoma(35;0.00513) GTTGGCTTGTGACGTCTCTGA 0.607000 53 102 0 0 1 0 0 ZNF558 148156 broad.mit.edu 37 19 8922294 8922294 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:8922294G>A ENST00000601372.1 - 10 1583 c.872C>T c.(871-873)cCt>cTt p.P291L ZNF558_ENST00000444186.2_Missense_Mutation_p.P220L|ZNF558_ENST00000301475.1_Missense_Mutation_p.P291L Q96NG5 ZN558_HUMAN zinc finger protein 558 291 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1) 15 ACATTCATAAGGTTTCTCCCC 0.453000 7 158 0 0 1 0 0 FCGBP 8857 broad.mit.edu 37 19 40384054 40384054 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:40384054C>T ENST00000221347.6 - 21 9563 c.9556G>A c.(9556-9558)Gag>Aag p.E3186K NM_003890.2 NP_003881.2 Q9Y6R7 FCGBP_HUMAN Fc fragment of IgG binding protein 3186 TIL 7. extracellular region protein binding NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3) 165 all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06) Epithelial(26;6.25e-23)|all cancers(26;1.13e-20) TGGCAGCCCTCCACACAGGGG 0.647000 17 147 0 0 1 0 0 SNTG1 54212 broad.mit.edu 37 8 51363267 51363267 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:51363267G>A ENST00000522124.1 + 8 1002 c.341G>A c.(340-342)aGa>aAa p.R114K SNTG1_ENST00000517473.1_Missense_Mutation_p.R114K|SNTG1_ENST00000276467.5_Missense_Mutation_p.R114K|SNTG1_ENST00000518864.1_Missense_Mutation_p.R114K NM_018967.2 NP_061840.1 Q9NSN8 SNTG1_HUMAN syntrophin, gamma 1 114 PDZ. cell communication cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex actin binding|protein C-terminus binding p.R114K(1) NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3) 66 all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22) ATTAATGTGAGAAAATGTAGA 0.323000 13 34 0 0 1 0 0 RBBP6 5930 broad.mit.edu 37 16 24582761 24582761 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr16:24582761C>T ENST00000319715.4 + 18 4806 c.4374C>T c.(4372-4374)tcC>tcT p.S1458S RBBP6_ENST00000348022.2_Silent_p.S1424S|RBBP6_ENST00000381039.3_Silent_p.S618S NM_006910.4 NP_008841.2 Q7Z6E9 RBBP6_HUMAN retinoblastoma binding protein 6 1458 Interaction with p53 (By similarity). protein ubiquitination involved in ubiquitin-dependent protein catabolic process chromosome|nucleolus|ubiquitin ligase complex nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1) 46 GBM - Glioblastoma multiforme(48;0.0518) AACATGATTCCACTCGTGCTT 0.378000 8 94 0 0 1 0 0 HSPG2 3339 broad.mit.edu 37 1 22222797 22222797 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:22222797G>A ENST00000374695.3 - 2 149 c.70C>T c.(70-72)Cat>Tat p.H24Y NM_005529.5 NP_005520.4 P98160 PGBM_HUMAN heparan sulfate proteoglycan 2 24 angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process basement membrane|extracellular space|plasma membrane protein C-terminus binding breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3) 127 Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223) Becaplermin(DB00102)|Palifermin(DB00039) CTCAGCCCATGGGTCACCTGT 0.557000 9 288 0 0 1 0 0 SEC24B 10427 broad.mit.edu 37 4 110453881 110453881 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:110453881C>T ENST00000265175.5 + 21 3532 c.3477C>T c.(3475-3477)ttC>ttT p.F1159F SEC24B_ENST00000399100.2_Silent_p.F1124F|SEC24B_ENST00000504968.2_Silent_p.F1189F NM_006323.2 NP_006314.2 O95487 SC24B_HUMAN SEC24 family member B 1159 COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm protein binding|transporter activity|zinc ion binding breast(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;3.03e-05) aaggtgctttccttatggact 0.428000 6 45 0 0 1 0 0 XAB2 56949 broad.mit.edu 37 19 7692186 7692186 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:7692186G>A ENST00000358368.4 - 4 502 c.465C>T c.(463-465)ttC>ttT p.F155F XAB2_ENST00000534844.1_Silent_p.F152F NM_020196.2 NP_064581.2 Q9HCS7 SYF1_HUMAN XPA binding protein 2 155 transcription, DNA-dependent|transcription-coupled nucleotide-excision repair catalytic step 2 spliceosome|nucleoplasm protein binding breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1) 26 GTGAGCGCAGGAAGCGCAGAT 0.637000 Direct reversal of damage;Nucleotide excision repair (NER) 31 56 0 0 1 0 0 TRPV5 56302 broad.mit.edu 37 7 142625886 142625886 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:142625886G>A ENST00000265310.1 - 6 1010 c.662C>T c.(661-663)tCc>tTc p.S221F TRPV5_ENST00000442623.1_Missense_Mutation_p.S221F NM_019841.4 NP_062815.2 Q9NQA5 TRPV5_HUMAN transient receptor potential cation channel, subfamily V, member 5 221 protein tetramerization apical plasma membrane|integral to plasma membrane calcium channel activity NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 67 Melanoma(164;0.059) TCCATCGTAGGACAGCAGCAG 0.562000 29 100 0 0 1 0 0 SLFN5 162394 broad.mit.edu 37 17 33586497 33586497 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:33586497C>T ENST00000299977.4 + 2 936 c.788C>T c.(787-789)cCt>cTt p.P263L SLFN5_ENST00000542451.1_Missense_Mutation_p.P263L|SLFN5_ENST00000592325.1_Missense_Mutation_p.P263L NM_144975.3 NP_659412.3 Q08AF3 SLFN5_HUMAN schlafen family member 5 263 cell differentiation ATP binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(8)|liver(2)|lung(6)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(2) 34 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0191) AAGAAGCTACCTGTCCATCAT 0.438000 60 130 0 0 1 0 0 PARD3 56288 broad.mit.edu 37 10 34649094 34649094 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:34649094G>A ENST00000374789.3 - 13 2126 c.1801C>T c.(1801-1803)Ctt>Ttt p.L601F PARD3_ENST00000374773.1_Missense_Mutation_p.L601F|PARD3_ENST00000374790.3_Missense_Mutation_p.L544F|PARD3_ENST00000374776.1_Missense_Mutation_p.L588F|PARD3_ENST00000374788.3_Missense_Mutation_p.L601F|PARD3_ENST00000340077.5_Missense_Mutation_p.L601F|PARD3_ENST00000545260.1_Missense_Mutation_p.L544F|PARD3_ENST00000374794.3_Missense_Mutation_p.L544F|PARD3_ENST00000350537.4_Missense_Mutation_p.L588F|PARD3_ENST00000346874.4_Missense_Mutation_p.L601F|PARD3_ENST00000544292.1_Missense_Mutation_p.L318F|PARD3_ENST00000374768.1_Missense_Mutation_p.L39F|PARD3_ENST00000545693.1_Missense_Mutation_p.L588F NM_019619.3 NP_062565.2 Q8TEW0 PARD3_HUMAN par-3 family cell polarity regulator 601 PDZ 3. activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 63 Breast(68;0.0707) CTGACACCAAGGCCTGCAGAT 0.428000 51 96 0 0 1 0 0 NEK8 284086 broad.mit.edu 37 17 27065149 27065149 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:27065149C>T ENST00000268766.6 + 8 1142 c.1108C>T c.(1108-1110)Cct>Tct p.P370S AC010761.6_ENST00000584779.1_RNA NM_178170.2 NP_835464.1 Q86SG6 NEK8_HUMAN NIMA-related kinase 8 370 cytoplasm|primary cilium ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 Lung NSC(42;0.0158) CAGTCTCCTTCCTGGGGCAGT 0.667000 4 67 0 0 1 0 0 SCAND3 114821 broad.mit.edu 37 6 28547160 28547160 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:28547160C>T ENST00000452236.2 - 2 1074 c.457G>A c.(457-459)Gaa>Aaa p.E153K SCAND3_ENST00000530247.1_5'UTR NM_052923.1 NP_443155.1 Q6R2W3 SCND3_HUMAN SCAN domain containing 3 153 DNA integration|viral reproduction nucleus DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3) 71 ATCATTTCTTCCATAGAAACT 0.428000 85 98 0 0 1 0 0 CDH8 1006 broad.mit.edu 37 16 61935293 61935293 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr16:61935293C>T ENST00000577390.1 - 3 1291 c.337G>A c.(337-339)Gat>Aat p.D113N CDH8_ENST00000299345.6_Missense_Mutation_p.D113N|CDH8_ENST00000584337.1_Missense_Mutation_p.D113N|CDH8_ENST00000577730.1_Missense_Mutation_p.D113N NM_001796.4 NP_001787.2 P55286 CADH8_HUMAN cadherin 8, type 2 113 Cadherin 1. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4) 112 Ovarian(137;0.0799)|Melanoma(118;0.16) UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249) CCAGTTACATCATTTATTTGA 0.428000 25 41 0 0 1 0 0 RSRC1 51319 broad.mit.edu 37 3 157841665 157841665 + Nonsense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:157841665C>T ENST00000464171.1 + 3 330 c.205C>T c.(205-207)Cga>Tga p.R69* RSRC1_ENST00000480820.1_Nonsense_Mutation_p.R69*|RSRC1_ENST00000295930.3_Nonsense_Mutation_p.R69*|RSRC1_ENST00000312179.6_Nonsense_Mutation_p.R69*|RSRC1_ENST00000475278.2_Nonsense_Mutation_p.R69* NM_001271834.1 NP_001258763.1 Q96IZ7 RSRC1_HUMAN arginine/serine-rich coiled-coil 1 69 Arg/Ser-rich. nucleocytoplasmic transport cytoplasm|nuclear speck protein binding cervix(1)|endometrium(2)|large_intestine(3)|lung(11)|upper_aerodigestive_tract(1) 18 Lung(72;0.00416)|LUSC - Lung squamous cell carcinoma(72;0.00575) ACGCAGGCATCGATCAAGCAG 0.378000 8 137 0 0 1 0 0 GAK 2580 broad.mit.edu 37 4 860162 860162 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:860162G>A ENST00000314167.4 - 22 3143 c.3033C>T c.(3031-3033)ttC>ttT p.F1011F GAK_ENST00000511163.1_Silent_p.F932F|GAK_ENST00000509566.1_5'UTR NM_005255.2 NP_005246.2 O14976 GAK_HUMAN cyclin G associated kinase 1011 cell cycle focal adhesion|Golgi apparatus|perinuclear region of cytoplasm ATP binding|heat shock protein binding|protein serine/threonine kinase activity autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2) 39 Colorectal(103;0.219) CCAGGTGCAGGAAGTCGGCGC 0.632000 13 69 0 0 1 0 0 DGKH 160851 broad.mit.edu 37 13 42701685 42701685 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr13:42701685C>T ENST00000337343.4 + 2 300 c.279C>T c.(277-279)acC>acT p.T93T DGKH_ENST00000540693.1_Silent_p.T93T|DGKH_ENST00000379274.2_5'UTR|DGKH_ENST00000261491.4_Silent_p.T93T NM_178009.3 NP_821077.1 Q86XP1 DGKH_HUMAN diacylglycerol kinase, eta 93 PH. activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation|protein oligomerization endosome|plasma membrane ATP binding|diacylglycerol kinase activity|metal ion binding breast(2)|endometrium(3)|kidney(5)|large_intestine(11)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 Lung NSC(96;1.02e-05)|Prostate(109;0.0168)|Lung SC(185;0.0262)|Breast(139;0.0709)|Hepatocellular(98;0.114) OV - Ovarian serous cystadenocarcinoma(117;5.88e-05)|GBM - Glioblastoma multiforme(144;0.000935)|BRCA - Breast invasive adenocarcinoma(63;0.109) GAGGCCGCACCCTTTACTATG 0.408000 15 33 0 0 1 0 0 BCRP7 100133163 broad.mit.edu 37 22 18845988 18845988 + RNA SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr22:18845988C>T ENST00000412938.1 + 0 3346 ACACCTCCATCCCGTCCTGCG 0.577000 8 84 0 0 1 0 0 LPAL2 80350 broad.mit.edu 37 6 160913865 160913865 + RNA SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:160913865G>A ENST00000335388.5 - 0 455 NR_028092.1 large_intestine(1)|lung(4) 5 Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.214) OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06) TCAGAGGCACGAACACAGTCC 0.507000 121 74 0 0 1 0 0 CHEK2 11200 broad.mit.edu 37 22 29085182 29085182 + Missense_Mutation SNP A A T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr22:29085182A>T ENST00000544772.1 - 15 2256 c.820T>A c.(820-822)Ttt>Att p.F274I CHEK2_ENST00000402731.1_Missense_Mutation_p.F466I|CHEK2_ENST00000382578.1_Missense_Mutation_p.F404I|CHEK2_ENST00000328354.6_Missense_Mutation_p.F495I|CHEK2_ENST00000348295.3_Missense_Mutation_p.F466I|CHEK2_ENST00000382565.1_Missense_Mutation_p.F115I|CHEK2_ENST00000404276.1_Missense_Mutation_p.F495I|CHEK2_ENST00000382580.2_Missense_Mutation_p.F538I|CHEK2_ENST00000405598.1_Missense_Mutation_p.F495I|CHEK2_ENST00000403642.1_Missense_Mutation_p.F404I|CHEK2_ENST00000382566.1_3'UTR NM_001257387.1 NP_001244316.1 O96017 CHK2_HUMAN checkpoint kinase 2 495 Protein kinase. cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence PML body ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2) 50 AGATCTTGAAACTTTCTCTTC 0.428000 F breast Direct reversal of damage;Other conserved DNA damage response genes 24 40 0 0 1 0 0 ADPRHL1 113622 broad.mit.edu 37 13 114083394 114083394 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr13:114083394G>A ENST00000356501.4 - 4 448 c.273C>T c.(271-273)tcC>tcT p.S91S ADPRHL1_ENST00000375418.3_Silent_p.S173S NM_199162.1 NP_954631.1 Q8NDY3 ARHL1_HUMAN ADP-ribosylhydrolase like 1 173 protein de-ADP-ribosylation ADP-ribosylarginine hydrolase activity|magnesium ion binding endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|skin(1) 11 Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_cancers(25;0.0395)|all_epithelial(44;0.011)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188) all cancers(43;0.0195)|GBM - Glioblastoma multiforme(44;0.116) CCGTGCACAGGGAGCCCAGGA 0.687000 10 22 0 0 1 0 0 ZNF462 58499 broad.mit.edu 37 9 109687800 109687800 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:109687800C>T ENST00000277225.5 + 3 1896 c.1607C>T c.(1606-1608)cCc>cTc p.P536L ZNF462_ENST00000457913.1_Missense_Mutation_p.P536L Q96JM2 ZN462_HUMAN zinc finger protein 462 536 transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.P536L(1) NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 119 ATGTTGGATCCCTTGCAGCAG 0.557000 22 39 0 0 1 0 0 BMP15 9210 broad.mit.edu 37 X 50659347 50659347 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chrX:50659347C>T ENST00000252677.3 + 2 919 c.919C>T c.(919-921)Cac>Tac p.H307Y NM_005448.2 NP_005439.2 O95972 BMP15_HUMAN bone morphogenetic protein 15 307 female gamete generation|granulosa cell development|ovarian follicle development extracellular space cytokine activity|growth factor activity NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|skin(1) 26 Ovarian(276;0.236) GGGTTGGGATCACTGGATCAT 0.502000 53 34 0 0 1 0 0 TBC1D2B 23102 broad.mit.edu 37 15 78346406 78346406 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr15:78346406G>A ENST00000409931.3 - 2 555 c.484C>T c.(484-486)Cct>Tct p.P162S TBC1D2B_ENST00000300584.3_Missense_Mutation_p.P162S Q9UPU7 TBD2B_HUMAN TBC1 domain family, member 2B 162 intracellular protein binding|Rab GTPase activator activity breast(3)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 26 AGACCCTTAGGAAAATCCCCG 0.463000 70 141 0 0 1 0 0 SCN5A 6331 broad.mit.edu 37 3 38628891 38628891 + Splice_Site SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:38628891C>T ENST00000413689.1 - 15 2629 c.2436_splice c.e15+1 p.L812_splice SCN5A_ENST00000443581.1_Splice_Site_p.L812_splice|SCN5A_ENST00000451551.2_Splice_Site_p.L812_splice|SCN5A_ENST00000414099.2_Splice_Site_p.L812_splice|SCN5A_ENST00000423572.2_Splice_Site_p.L812_splice|SCN5A_ENST00000450102.2_Splice_Site_p.L812_splice|SCN5A_ENST00000449557.2_Splice_Site_p.L812_splice|SCN5A_ENST00000333535.4_Splice_Site_p.L812_splice|SCN5A_ENST00000455624.2_Splice_Site_p.L812_splice|SCN5A_ENST00000425664.1_Splice_Site_p.L812_splice NM_001099404.1|NM_001160160.1 NP_001092874.1|NP_001153632.1 Q14524 SCN5A_HUMAN sodium channel, voltage-gated, type V, alpha subunit 812 blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction sarcolemma|voltage-gated sodium channel complex protein binding|voltage-gated sodium channel activity NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4) 107 Medulloblastoma(35;0.163) KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1) Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661) AGCCAGGTACCAGGCGGAAGG 0.587000 11 18 0 0 1 0 0 CDH8 1006 broad.mit.edu 37 16 62055248 62055248 + Nonsense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr16:62055248C>T ENST00000577390.1 - 2 1014 c.60G>A c.(58-60)tgG>tgA p.W20* CDH8_ENST00000299345.6_Nonsense_Mutation_p.W20*|CDH8_ENST00000584337.1_Nonsense_Mutation_p.W20*|CDH8_ENST00000577730.1_Nonsense_Mutation_p.W20* NM_001796.4 NP_001787.2 P55286 CADH8_HUMAN cadherin 8, type 2 20 adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4) 112 Ovarian(137;0.0799)|Melanoma(118;0.16) UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249) GAAGAGTAATCCATAATATTA 0.438000 35 35 0 0 1 0 0 SPTBN2 6712 broad.mit.edu 37 11 66468535 66468535 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:66468535G>A ENST00000533211.1 - 17 3366 c.3035C>T c.(3034-3036)gCc>gTc p.A1012V SPTBN2_ENST00000529997.1_Missense_Mutation_p.A1012V|SPTBN2_ENST00000309996.2_Missense_Mutation_p.A1012V O15020 SPTN2_HUMAN spectrin, beta, non-erythrocytic 2 1012 actin filament capping|axon guidance|cell death|vesicle-mediated transport cytosol|spectrin actin binding|structural constituent of cytoskeleton autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 74 CACCCGGGCGGCGATGGCCTC 0.687000 6 100 0 0 1 0 0 KIF26A 26153 broad.mit.edu 37 14 104643449 104643449 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr14:104643449G>A ENST00000315264.7 + 11 4285 c.3907G>A c.(3907-3909)Gaa>Aaa p.E1303K KIF26A_ENST00000423312.2_Missense_Mutation_p.E1442K Q9ULI4 KI26A_HUMAN kinesin family member 26A 1442 blood coagulation|enteric nervous system development|microtubule-based movement|negative regulation of signal transduction|regulation of cell growth by extracellular stimulus cytosol|microtubule ATP binding|microtubule binding|microtubule motor activity autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2) 21 all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767) Epithelial(46;0.152) Epithelial(152;0.161) GGAGCGGTACGAAGGCCTGGC 0.697000 10 38 0 0 1 0 0 KCNK18 338567 broad.mit.edu 37 10 118969168 118969168 + Missense_Mutation SNP C C A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:118969168C>A ENST00000334549.1 + 3 513 c.513C>A c.(511-513)ttC>ttA p.F171L NM_181840.1 NP_862823.1 Q7Z418 KCNKI_HUMAN potassium channel, subfamily K, member 18 171 integral to membrane|plasma membrane breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 41 Colorectal(252;0.19) all cancers(201;0.0211) AATTCCCTTTCTTTACCCGCC 0.502000 47 116 4.18559e-23 4.23194e-23 1 1 0 LRCH1 23143 broad.mit.edu 37 13 47315819 47315819 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr13:47315819C>T ENST00000389798.3 + 19 2220 c.2023C>T c.(2023-2025)Cgt>Tgt p.R675C LRCH1_ENST00000389797.3_Missense_Mutation_p.R710C|LRCH1_ENST00000311191.6_Intron NM_015116.2 NP_055931.1 Q9Y2L9 LRCH1_HUMAN leucine-rich repeats and calponin homology (CH) domain containing 1 675 CH. p.R675C(1) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 26 all_lung(13;5.61e-07)|Lung NSC(96;0.000117)|Breast(56;0.000141)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;0.000123) GTTGGATTTTCGTCACATTCG 0.507000 265 485 0 0 1 0 0 TF 7018 broad.mit.edu 37 3 133496080 133496080 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:133496080C>T ENST00000402696.3 + 16 2545 c.2060C>T c.(2059-2061)tCa>tTa p.S687L TF_ENST00000264998.3_Missense_Mutation_p.S560L NM_001063.3 NP_001054.1 P02787 TRFE_HUMAN transferrin 687 cellular iron ion homeostasis|platelet activation|platelet degranulation|transferrin transport|transmembrane transport apical plasma membrane|basal plasma membrane|coated pit|early endosome|endocytic vesicle|endosome membrane|extracellular region|late endosome|perinuclear region of cytoplasm|recycling endosome|stored secretory granule ferric iron binding p.S687L(1) NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(7)|large_intestine(13)|liver(2)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 49 Aluminium(DB01370)|Bismuth(DB01402)|Iron Dextran(DB00893) TGCTCCACCTCATGTGAGTAG 0.488000 15 43 0 0 1 0 0 ATP10B 23120 broad.mit.edu 37 5 160059334 160059334 + Silent SNP A A G TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:160059334A>G ENST00000327245.5 - 13 2268 c.1422T>C c.(1420-1422)ggT>ggC p.G474G CTC-348L5.1_ENST00000523598.1_RNA NM_025153.2 NP_079429.2 O94823 AT10B_HUMAN ATPase, class V, type 10B 474 ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1) 75 Renal(175;0.00196) Medulloblastoma(196;0.0377)|all_neural(177;0.121) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) TCCACTCTTCACCATCTGAGT 0.532000 35 107 0 0 1 0 0 SNCAIP 9627 broad.mit.edu 37 5 121786650 121786650 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:121786650C>T ENST00000261367.7 + 12 3677 c.2249C>T c.(2248-2250)cCc>cTc p.P750L CTC-210G5.1_ENST00000506053.1_RNA|CTC-210G5.1_ENST00000503529.1_RNA|SNCAIP_ENST00000503116.2_3'UTR|SNCAIP_ENST00000379538.3_Missense_Mutation_p.P337L|CTC-210G5.1_ENST00000505546.1_RNA|SNCAIP_ENST00000504884.2_3'UTR|SNCAIP_ENST00000414317.2_Missense_Mutation_p.P305L|SNCAIP_ENST00000542191.1_Missense_Mutation_p.P261L|SNCAIP_ENST00000261368.8_Missense_Mutation_p.P703L|SNCAIP_ENST00000379536.2_Missense_Mutation_p.P643L|CTC-210G5.1_ENST00000510972.1_RNA|CTC-210G5.1_ENST00000509993.1_RNA|SNCAIP_ENST00000379533.2_Missense_Mutation_p.P750L Q9Y6H5 SNCAP_HUMAN synuclein, alpha interacting protein 703 cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion cytoplasm|neuronal cell body|nucleolus|presynaptic membrane ubiquitin protein ligase binding NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1) 39 all_cancers(142;0.00787)|Prostate(80;0.0327) KIRC - Kidney renal clear cell carcinoma(527;0.206) OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232) AGGCCGCAGCCCATTGTAGAA 0.542000 28 65 0 0 1 0 0 MEP1A 4224 broad.mit.edu 37 6 46766909 46766909 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:46766909G>A ENST00000230588.4 + 5 262 c.253G>A c.(253-255)Gat>Aat p.D85N NM_005588.2 NP_005579.2 Q16819 MEP1A_HUMAN meprin A, alpha (PABA peptide hydrolase) 85 Metalloprotease. digestion|proteolysis extracellular space|integral to plasma membrane|soluble fraction metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 42 Lung(136;0.192) CATCTTGGCTGATAATTTGGG 0.443000 44 129 0 0 1 0 0 NDN 4692 broad.mit.edu 37 15 23931504 23931504 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr15:23931504G>A ENST00000331837.4 - 1 946 c.861C>T c.(859-861)ccC>ccT p.P287P NM_002487.2 NP_002478.1 Q99608 NECD_HUMAN necdin, melanoma antigen (MAGE) family member 287 MAGE. negative regulation of cell proliferation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus|perikaryon DNA binding breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|skin(1) 39 all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14) all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153) GCCAGGCCTGGGGGTCTTTCT 0.602000 Prader-Willi syndrome 6 71 0 0 1 0 0 SMG1 23049 broad.mit.edu 37 16 18840826 18840826 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr16:18840826C>T ENST00000446231.2 - 54 9797 c.9385G>A c.(9385-9387)Gaa>Aaa p.E3129K SMG1_ENST00000389467.3_Missense_Mutation_p.E3129K Q96Q15 SMG1_HUMAN SMG1 phosphatidylinositol 3-kinase-related kinase 3129 DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation cytoplasm|nucleus ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1) 92 ACTTTGCTTTCGGCACCAAAG 0.473000 4 66 0 0 1 0 0 HRASLS 57110 broad.mit.edu 37 3 192980836 192980836 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:192980836G>A ENST00000264735.2 + 3 626 c.532G>A c.(532-534)Gat>Aat p.D178N HRASLS_ENST00000602513.1_Missense_Mutation_p.D73N NM_020386.4 NP_065119.2 Q9HDD0 HRSL1_HUMAN HRAS-like suppressor 73 breast(1)|large_intestine(2)|lung(4)|prostate(1)|skin(2) 10 all_cancers(143;9.1e-09)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06) GBM - Glioblastoma multiforme(46;0.000159) GCTCTTGAAGGATGTTGTGGG 0.423000 19 264 0 0 1 0 0 ATP8B4 79895 broad.mit.edu 37 15 50211099 50211099 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr15:50211099C>T ENST00000284509.6 - 19 2113 c.1972G>A c.(1972-1974)Gaa>Aaa p.E658K ATP8B4_ENST00000559829.1_Missense_Mutation_p.E658K NM_024837.2 NP_079113.2 Q8TF62 AT8B4_HUMAN ATPase, class I, type 8B, member 4 658 ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1) 73 all_lung(180;0.00183) all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05) GTAACTGTTTCAATAACACCC 0.333000 37 94 0 0 1 0 0 NDUFA8 4702 broad.mit.edu 37 9 124914582 124914582 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:124914582G>A ENST00000537618.1 - 2 266 c.157C>T c.(157-159)Ccg>Tcg p.P53S NDUFA8_ENST00000373768.3_Missense_Mutation_p.P53S P51970 NDUA8_HUMAN NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 8, 19kDa 53 CHCH 1. mitochondrial electron transport, NADH to ubiquinone|transport mitochondrial intermembrane space|mitochondrial respiratory chain complex I NADH dehydrogenase (ubiquinone) activity breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5) 9 NADH(DB00157) CACCGCCTCGGATCTTTCTCT 0.453000 32 43 0 0 1 0 0 KCNN3 3782 broad.mit.edu 37 1 154705568 154705568 + Missense_Mutation SNP T T G TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:154705568T>G ENST00000271915.3 - 4 1816 c.1501A>C c.(1501-1503)Atc>Ctc p.I501L KCNN3_ENST00000361147.4_Missense_Mutation_p.I196L|KCNN3_ENST00000358505.2_Missense_Mutation_p.I188L NM_002249.5 NP_002240.3 Q9UGI6 KCNN3_HUMAN potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3 506 integral to membrane calmodulin binding cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1) 28 all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245) BRCA - Breast invasive adenocarcinoma(34;0.00819) GTGATGGAGATGAGCCACATG 0.517000 5 156 0 0 1 0 0 GIMAP8 155038 broad.mit.edu 37 7 150174434 150174434 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:150174434G>A ENST00000307271.3 + 5 2138 c.1564G>A c.(1564-1566)Gaa>Aaa p.E522K NM_175571.2 NP_783161.1 Q8ND71 GIMA8_HUMAN GTPase, IMAP family member 8 522 endoplasmic reticulum|Golgi apparatus|mitochondrion GTP binding breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1) 62 OV - Ovarian serous cystadenocarcinoma(82;0.0218) UCEC - Uterine corpus endometrioid carcinoma (81;0.17) GTCCTGCTGTGAAAAAGGGGA 0.517000 34 93 0 0 1 0 0 RIMS2 9699 broad.mit.edu 37 8 104927817 104927817 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:104927817G>A ENST00000507740.1 + 5 1567 c.1331G>A c.(1330-1332)aGa>aAa p.R444K RIMS2_ENST00000262231.10_Missense_Mutation_p.R491K|RIMS2_ENST00000406091.3_Missense_Mutation_p.R636K|RIMS2_ENST00000436393.2_Missense_Mutation_p.R414K NM_014677.4 NP_055492.3 Q9UQ26 RIMS2_HUMAN regulating synaptic membrane exocytosis 2 714 intracellular protein transport cell junction|presynaptic membrane metal ion binding|Rab GTPase binding NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1) 144 OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229) GGACATCTTAGACCAGGTAGG 0.313000 HNSCC(12;0.0054) 24 34 0 0 1 0 0 TENM1 10178 broad.mit.edu 37 X 123775740 123775740 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chrX:123775740G>A ENST00000422452.2 - 11 2041 c.1978C>T c.(1978-1980)Cct>Tct p.P660S TENM1_ENST00000371130.3_Missense_Mutation_p.P660S NM_001163278.1|NM_001163279.1 NP_001156750.1|NP_001156751.1 teneurin transmembrane protein 1 TGACATACAGGAAGTGGTGTT 0.502000 138 56 0 0 1 0 0 SLC2A5 6518 broad.mit.edu 37 1 9098064 9098064 + Silent SNP G G A rs139776061 TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:9098064G>A ENST00000377424.4 - 11 1373 c.1194C>T c.(1192-1194)ctC>ctT p.L398L SLC2A5_ENST00000536305.1_Silent_p.L339L|SLC2A5_ENST00000535586.1_Silent_p.L283L NM_003039.2 NP_003030.1 P22732 GTR5_HUMAN solute carrier family 2 (facilitated glucose/fructose transporter), member 5 398 carbohydrate metabolic process integral to membrane|plasma membrane fructose transmembrane transporter activity|glucose transmembrane transporter activity endometrium(6)|kidney(15)|large_intestine(6)|lung(4)|ovary(1)|pancreas(2)|prostate(1)|urinary_tract(1) 36 Ovarian(185;0.112)|all_lung(157;0.185) all_epithelial(116;1.34e-15)|all_lung(118;9.46e-05)|Lung NSC(185;0.000172)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.00715)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.78e-07)|COAD - Colon adenocarcinoma(227;8.83e-05)|Kidney(185;0.000286)|KIRC - Kidney renal clear cell carcinoma(229;0.00103)|STAD - Stomach adenocarcinoma(132;0.0019)|BRCA - Breast invasive adenocarcinoma(304;0.00199)|READ - Rectum adenocarcinoma(331;0.0649) TCTCAGTGATGAGCAGCGCGG 0.632000 23 28 0 0 1 0 0 TIE1 7075 broad.mit.edu 37 1 43783335 43783335 + Nonsense_Mutation SNP T T A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:43783335T>A ENST00000372476.3 + 16 2800 c.2721T>A c.(2719-2721)tgT>tgA p.C907* TIE1_ENST00000473014.1_3'UTR|TIE1_ENST00000433781.2_Nonsense_Mutation_p.C552* NM_001253357.1|NM_005424.4 NP_001240286.1|NP_005415.1 P35590 TIE1_HUMAN tyrosine kinase with immunoglobulin-like and EGF-like domains 1 907 Protein kinase. mesoderm development integral to plasma membrane ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 70 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) TGGGGGCCTGTAAGAACCGAG 0.552000 6 179 0 0 1 0 0 MPZL1 9019 broad.mit.edu 37 1 167742593 167742593 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:167742593G>A ENST00000359523.2 + 4 795 c.593G>A c.(592-594)cGg>cAg p.R198Q MPZL1_ENST00000392121.3_Intron|MPZL1_ENST00000474859.1_Missense_Mutation_p.R198Q NM_003953.5|NM_024569.4 NP_003944.1|NP_078845.3 O95297 MPZL1_HUMAN myelin protein zero-like 1 198 cell-cell signaling|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane protein binding|structural molecule activity breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(2) 15 all_hematologic(923;0.215) AACTCTAAACGGGATTACACT 0.428000 41 96 0 0 1 0 0 GYPA 2993 broad.mit.edu 37 4 145039873 145039873 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:145039873C>T ENST00000360771.4 - 4 380 c.265G>A c.(265-267)Gaa>Aaa p.E89K GYPB_ENST00000283126.7_Intron|RP11-673E1.4_ENST00000506982.1_RNA|GYPA_ENST00000512064.1_Intron|GYPA_ENST00000535709.1_Missense_Mutation_p.E63K|GYPA_ENST00000324022.10_Missense_Mutation_p.E56K|GYPA_ENST00000504786.1_Missense_Mutation_p.E57K|GYPA_ENST00000503627.1_Intron|GYPA_ENST00000512789.1_Missense_Mutation_p.E24K NM_002099.6 NP_002090.4 P02724 GLPA_HUMAN glycophorin A (MNS blood group) 89 interspecies interaction between organisms membrane fraction receptor activity central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(4)|skin(1) 10 all_hematologic(180;0.15) ATACCTGGTTCAGAGAAATGA 0.313000 26 64 0 0 1 0 0 EML5 161436 broad.mit.edu 37 14 89131692 89131692 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr14:89131692C>T ENST00000554922.1 - 22 3514 c.3266G>A c.(3265-3267)cGa>cAa p.R1089Q EML5_ENST00000352093.5_Missense_Mutation_p.R1051Q|EML5_ENST00000380664.5_Missense_Mutation_p.R1089Q NM_183387.2 NP_899243.1 Q05BV3 EMAL5_HUMAN echinoderm microtubule associated protein like 5 1089 cytoplasm|microtubule breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 50 AGGTGAAAATCGAATATCTGA 0.343000 7 26 0 0 1 0 0 VSTM2L 128434 broad.mit.edu 37 20 36560104 36560104 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr20:36560104C>T ENST00000373461.4 + 2 436 c.189C>T c.(187-189)tcC>tcT p.S63S VSTM2L_ENST00000373458.3_Silent_p.S63S|VSTM2L_ENST00000373459.4_Intron NM_080607.2 NP_542174.1 Q96N03 VTM2L_HUMAN V-set and transmembrane domain containing 2 like 63 Ig-like. central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(4)|ovary(1)|skin(1) 8 Myeloproliferative disorder(115;0.00878) TGGCCTGCTCCTTCCGCGGCA 0.647000 99 138 0 0 1 0 0 TRIM21 6737 broad.mit.edu 37 11 4411451 4411451 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:4411451G>A ENST00000254436.7 - 2 301 c.189C>T c.(187-189)ctC>ctT p.L63L TRIM21_ENST00000543625.1_Silent_p.L63L NM_003141.3 NP_003132.2 P19474 RO52_HUMAN tripartite motif containing 21 63 cell cycle|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein deubiquitination|positive regulation of cell cycle|protein autoubiquitination|protein destabilization|protein monoubiquitination|protein polyubiquitination|protein trimerization cytoplasmic mRNA processing body|nucleus DNA binding|protein binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(3) 16 Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227) Epithelial(150;2.08e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0851)|LUSC - Lung squamous cell carcinoma(625;0.194) GATTGGGCCGGAGATTCTTGA 0.577000 41 35 0 0 1 0 0 GANAB 23193 broad.mit.edu 37 11 62398291 62398291 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:62398291G>A ENST00000346178.4 - 12 1249 c.1234C>T c.(1234-1236)Cca>Tca p.P412S GANAB_ENST00000540933.1_Missense_Mutation_p.P293S|GANAB_ENST00000356638.3_Missense_Mutation_p.P390S|GANAB_ENST00000534779.1_Missense_Mutation_p.P298S NM_001278192.1|NM_198335.2 NP_001265121.1|NP_938149.2 Q14697 GANAB_HUMAN glucosidase, alpha; neutral AB 390 post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine endoplasmic reticulum lumen|Golgi apparatus|melanosome carbohydrate binding|glucan 1,3-alpha-glucosidase activity|protein binding central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|skin(2)|urinary_tract(3) 35 GAGAAGAGTGGGGGCAACGCC 0.587000 16 36 0 0 1 0 0 PPM1A 5494 broad.mit.edu 37 14 60758133 60758133 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr14:60758133C>T ENST00000395076.4 + 5 1510 c.1080C>T c.(1078-1080)gcC>gcT p.A360A PPM1A_ENST00000529574.1_Silent_p.A360A|PPM1A_ENST00000325642.3_Silent_p.A433A NM_021003.4 NP_066283.1 P35813 PPM1A_HUMAN protein phosphatase, Mg2+/Mn2+ dependent, 1A 360 cell cycle arrest|insulin receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway|protein dephosphorylation|Wnt receptor signaling pathway cytosol|nucleus|protein serine/threonine phosphatase complex magnesium ion binding|manganese ion binding|protein serine/threonine phosphatase activity|signal transducer activity cervix(1)|endometrium(1)|large_intestine(8)|lung(2)|skin(1)|upper_aerodigestive_tract(1) 14 OV - Ovarian serous cystadenocarcinoma(108;0.046) TTATTGAAGCCGTTTACAATA 0.358000 24 70 0 0 1 0 0 KMT2C 58508 broad.mit.edu 37 7 151935845 151935845 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:151935845C>T ENST00000355193.2 - 15 2817 c.2599G>A c.(2599-2601)Gaa>Aaa p.E867K KMT2C_ENST00000262189.6_Missense_Mutation_p.E867K lysine (K)-specific methyltransferase 2C TTAAAAATTTCCCGACCTTCT 0.423000 5 192 0 0 1 0 0 UNC93A 54346 broad.mit.edu 37 6 167708122 167708122 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:167708122G>A ENST00000230256.3 + 2 380 c.205G>A c.(205-207)Ggg>Agg p.G69R UNC93A_ENST00000366830.2_3'UTR|UNC93A_ENST00000366829.2_Missense_Mutation_p.G69R NM_018974.3 NP_061847.2 Q86WB7 UN93A_HUMAN unc-93 homolog A (C. elegans) 69 integral to membrane|plasma membrane breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 40 Breast(66;7.62e-05)|Ovarian(120;0.105) OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492) GGGCTGCAAGGGGACCATCAT 0.652000 106 264 0 0 1 0 0 MYLK4 340156 broad.mit.edu 37 6 2685601 2685601 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:2685601C>T ENST00000274643.7 - 6 816 c.474G>A c.(472-474)ctG>ctA p.L158L MYLK4_ENST00000268446.5_Silent_p.L158L NM_001012418.3 NP_001012418.2 Q86YV6 MYLK4_HUMAN myosin light chain kinase family, member 4 158 Protein kinase. ATP binding|protein serine/threonine kinase activity breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(2)|skin(1) 23 Ovarian(93;0.0412) all_hematologic(90;0.0897) TCGCGTGGTCCAGCTGGTTCA 0.572000 63 278 0 0 1 0 0 BTN3A1 11119 broad.mit.edu 37 6 26407984 26407984 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:26407984C>T ENST00000289361.6 + 4 887 c.519C>T c.(517-519)ccC>ccT p.P173P BTN3A1_ENST00000476549.2_Silent_p.P173P|BTN3A1_ENST00000425234.2_Silent_p.P173P|BTN3A1_ENST00000414912.2_Intron NM_001145008.1|NM_001145009.1|NM_007048.5 NP_001138480.1|NP_001138481.1|NP_008979.3 O00481 BT3A1_HUMAN butyrophilin, subfamily 3, member A1 173 Ig-like V-type 2. lipid metabolic process integral to membrane breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 28 GCTGGTACCCCCAACCCCAAA 0.537000 54 135 0 0 1 0 0 CNTNAP3 79937 broad.mit.edu 37 9 39171472 39171472 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:39171472G>A ENST00000297668.6 - 8 1300 c.1227C>T c.(1225-1227)ttC>ttT p.F409F CNTNAP3_ENST00000377659.1_Silent_p.F409F|CNTNAP3_ENST00000358144.2_Silent_p.F321F|CNTNAP3_ENST00000377656.2_Silent_p.F409F|CNTNAP3_ENST00000323947.7_Silent_p.F409F NM_033655.3 NP_387504.2 Q9BZ76 CNTP3_HUMAN contactin associated protein-like 3 409 Laminin G-like 2. cell adhesion|cell recognition|signal transduction extracellular region|integral to membrane|plasma membrane receptor binding breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2) 24 GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681) GAAGTTCGCCGAAAAGCAAAT 0.507000 34 74 0 0 1 0 0 TBX21 30009 broad.mit.edu 37 17 45822683 45822683 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:45822683C>T ENST00000177694.1 + 6 1770 c.1559C>T c.(1558-1560)cCt>cTt p.P520L NM_013351.1 NP_037483.1 Q9UL17 TBX21_HUMAN T-box 21 520 lymphocyte migration|multicellular organismal development|positive regulation of transcription, DNA-dependent|response to virus nucleus sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding NS(1)|endometrium(1)|large_intestine(3)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 22 GCCCCTTCTCCTTTTGATAAG 0.498000 27 68 0 0 1 0 0 OR7D2 162998 broad.mit.edu 37 19 9297155 9297155 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:9297155G>A ENST00000344248.2 + 1 877 c.698G>A c.(697-699)gGa>gAa p.G233E NM_175883.2 NP_787079.1 Q96RA2 OR7D2_HUMAN olfactory receptor, family 7, subfamily D, member 2 233 regulation of transcription, DNA-dependent|sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(2) 20 TCATCTGGGGGAAAACAAAAA 0.473000 33 83 0 0 1 0 0 STOX2 56977 broad.mit.edu 37 4 184932298 184932298 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:184932298C>T ENST00000308497.4 + 3 3742 c.2307C>T c.(2305-2307)gcC>gcT p.A769A STOX2_ENST00000438269.1_Silent_p.A769A NM_020225.1 NP_064610.1 Q9P2F5 STOX2_HUMAN storkhead box 2 769 embryo development|maternal placenta development breast(1)|endometrium(7)|lung(6) 14 all_lung(41;1.89e-12)|Lung NSC(41;3.48e-12)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|all_hematologic(60;0.027)|Prostate(90;0.0283) all cancers(43;2.85e-26)|Epithelial(43;2.27e-22)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-10)|Colorectal(24;8.23e-06)|GBM - Glioblastoma multiforme(59;1.64e-05)|STAD - Stomach adenocarcinoma(60;3.6e-05)|COAD - Colon adenocarcinoma(29;4.37e-05)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.227) ACCAGGAAGCCTCTTTTGACT 0.552000 8 10 0 0 1 0 0 PCDHA6 56142 broad.mit.edu 37 5 140207820 140207820 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:140207820C>T ENST00000529310.1 + 1 258 c.144C>T c.(142-144)atC>atT p.I48I PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Silent_p.I48I|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron NM_018909.2|NM_031848.1|NM_031849.1 NP_061732.1|NP_114036.1|NP_114037.1 NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 89 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGGGCCGGATCGCGCAGGACC 0.657000 62 108 0 0 1 0 0 SEPT10 151011 broad.mit.edu 37 2 110322028 110322028 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:110322028G>A ENST00000356688.4 - 8 1258 c.943C>T c.(943-945)Cat>Tat p.H315Y SEPT10_ENST00000397714.2_Missense_Mutation_p.H292Y|SEPT10_ENST00000397712.2_Missense_Mutation_p.H315Y|SEPT10_ENST00000545389.1_Missense_Mutation_p.H148Y|SEPT10_ENST00000437928.1_Missense_Mutation_p.H300Y|SEPT10_ENST00000415095.1_Missense_Mutation_p.H315Y|SEPT10_ENST00000468616.1_5'UTR|SEPT10_ENST00000334001.6_Missense_Mutation_p.H182Y Q9P0V9 SEP10_HUMAN septin 10 315 cell cycle|cell division septin complex GTP binding breast(2)|endometrium(3)|large_intestine(4)|lung(8)|prostate(1) 18 TGCCTGGTATGGGTCTGCTCT 0.468000 46 65 0 0 1 0 0 PPARG 5468 broad.mit.edu 37 3 12421229 12421229 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:12421229C>T ENST00000397026.2 + 4 426 c.43C>T c.(43-45)Cca>Tca p.P15S PPARG_ENST00000397010.2_Missense_Mutation_p.P9S|PPARG_ENST00000397012.2_Missense_Mutation_p.P9S|PPARG_ENST00000397015.2_Missense_Mutation_p.P9S|PPARG_ENST00000397000.1_Missense_Mutation_p.P9S|PPARG_ENST00000539812.1_Missense_Mutation_p.P7S|PPARG_ENST00000309576.6_Missense_Mutation_p.P9S|PPARG_ENST00000287820.6_Missense_Mutation_p.P37S P37231 PPARG_HUMAN peroxisome proliferator-activated receptor gamma 37 activation of caspase activity|cell fate commitment|cell maturation|cellular response to insulin stimulus|epithelial cell differentiation|glucose homeostasis|induction of apoptosis|innate immune response|lipid homeostasis|lipoprotein transport|long-chain fatty acid transport|low-density lipoprotein particle receptor biosynthetic process|monocyte differentiation|negative regulation of cholesterol storage|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of macrophage derived foam cell differentiation|negative regulation of receptor biosynthetic process|negative regulation of sequestering of triglyceride|negative regulation of transcription from RNA polymerase II promoter|placenta development|positive regulation of fat cell differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to lipid|response to low-density lipoprotein particle stimulus|white fat cell differentiation cytosol|nucleoplasm activating transcription factor binding|arachidonic acid binding|drug binding|enzyme binding|prostaglandin receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding p.P37S(1) PAX8/PPARG(117) breast(2)|endometrium(4)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1) 20 Atorvastatin(DB01076)|Icosapent(DB00159)|Pioglitazone(DB01132)|Rosiglitazone(DB00412)|Troglitazone(DB00197) CACAGAGATGCCATTCTGGCC 0.453000 T PAX8 follicular thyroid """Insulin resistance ; lipodystrophy, familial partial L;diabetes mellitus, insulin-resistantI, with acanthosis nigricans and hypertension""" 4 101 0 0 1 0 0 ATP13A2 23400 broad.mit.edu 37 1 17332266 17332266 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:17332266G>A ENST00000452699.1 - 2 207 c.18C>T c.(16-18)agC>agT p.S6S ATP13A2_ENST00000341676.5_Silent_p.S6S|ATP13A2_ENST00000326735.8_Silent_p.S6S NM_001141973.1|NM_022089.2 NP_001135445.1|NP_071372.1 Q9NQ11 AT132_HUMAN ATPase type 13A2 6 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(11)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 32 Colorectal(325;0.000147)|Breast(348;0.00104)|Renal(390;0.00145)|Lung NSC(340;0.00566)|all_lung(284;0.00797)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646) UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|COAD - Colon adenocarcinoma(227;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;1.99e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182) CCACGAGAGGGCTGCTGTCTG 0.542000 10 14 0 0 1 0 0 C6 729 broad.mit.edu 37 5 41160278 41160278 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:41160278C>T ENST00000263413.3 - 11 1914 c.1650G>A c.(1648-1650)gaG>gaA p.E550E C6_ENST00000337836.5_Silent_p.E550E NM_001115131.1 NP_001108603.2 P13671 CO6_HUMAN complement component 6 550 EGF-like. complement activation, classical pathway|cytolysis|innate immune response membrane attack complex protein binding central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2) 96 Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157) TCTCACAGTTCTCACCATAGG 0.458000 67 162 0 0 1 0 0 RALYL 138046 broad.mit.edu 37 8 85799972 85799972 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:85799972G>A ENST00000521268.1 + 8 1924 c.819G>A c.(817-819)ggG>ggA p.G273G RALYL_ENST00000523850.1_Silent_p.G200G|RALYL_ENST00000517638.1_Silent_p.G286G|RALYL_ENST00000521376.1_Intron|RALYL_ENST00000518566.1_Silent_p.G262G|RALYL_ENST00000521695.1_Silent_p.G273G|RALYL_ENST00000522455.1_Silent_p.G273G NM_173848.5 NP_776247.3 Q86SE5 RALYL_HUMAN RALY RNA binding protein-like 273 identical protein binding|nucleotide binding|RNA binding endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1) 24 TGACAGATGGGATAGAGGAGG 0.483000 43 79 0 0 1 0 0 SP1 6667 broad.mit.edu 37 12 53776314 53776314 + Nonsense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:53776314C>T ENST00000426431.2 + 3 622 c.562C>T c.(562-564)Caa>Taa p.Q188* SP1_ENST00000327443.4_Nonsense_Mutation_p.Q195* NM_003109.1 NP_003100.1 P08047 SP1_HUMAN Sp1 transcription factor 195 Transactivation domain A (Gln-rich). positive regulation by host of viral transcription|positive regulation of transcription from RNA polymerase II promoter cytoplasm double-stranded DNA binding|histone deacetylase binding|HMG box domain binding|protein C-terminus binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding breast(1)|large_intestine(1)|ovary(1)|skin(1)|stomach(1) 5 BRCA - Breast invasive adenocarcinoma(357;0.00527) CACTGGGGCCCAAGTGCAGCA 0.483000 55 106 0 0 1 0 0 OIT3 170392 broad.mit.edu 37 10 74692188 74692188 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:74692188G>A ENST00000334011.5 + 9 1762 c.1544G>A c.(1543-1545)cGg>cAg p.R515Q NM_152635.1 NP_689848.1 Q8WWZ8 OIT3_HUMAN oncoprotein induced transcript 3 515 ZP. nuclear envelope calcium ion binding p.R515Q(1) autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2) 35 Prostate(51;0.0198) GGTTGCCACCGGCGAATGCGT 0.602000 79 108 0 0 1 0 0 MYH14 79784 broad.mit.edu 37 19 50764809 50764809 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:50764809C>T ENST00000440075.2 + 21 2549 c.2502C>T c.(2500-2502)gcC>gcT p.A834A MYH14_ENST00000601313.1_Silent_p.A834A|MYH14_ENST00000598205.1_Silent_p.A801A|MYH14_ENST00000596571.1_Silent_p.A793A|MYH14_ENST00000425460.1_Silent_p.A801A|MYH14_ENST00000376970.2_Silent_p.A826A|MYH14_ENST00000262269.8_Silent_p.A834A Q7Z406 MYH14_HUMAN myosin, heavy chain 14, non-muscle 793 axon guidance|regulation of cell shape myosin complex actin binding|ATP binding|calmodulin binding|motor activity central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 46 all_neural(266;0.0571)|Ovarian(192;0.0728) OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195) GGGTCCTGGCCCAGCTGGAAG 0.647000 27 25 0 0 1 0 0 ELF3 1999 broad.mit.edu 37 1 201981503 201981503 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:201981503C>T ENST00000359651.3 + 3 3609 c.417C>T c.(415-417)atC>atT p.I139I ELF3_ENST00000367283.3_Silent_p.I139I|ELF3_ENST00000367284.5_Silent_p.I139I|RP11-510N19.5_ENST00000504773.1_RNA|ELF3_ENST00000495848.1_3'UTR P78545 ELF3_HUMAN E74-like factor 3 (ets domain transcription factor, epithelial-specific ) 139 epidermis development|epithelial cell differentiation|inflammatory response|mammary gland involution|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter Golgi apparatus|nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity breast(2)|endometrium(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 20 TCAGTTGGATCATTGAGCTGC 0.567000 41 124 0 0 1 0 0 RP1 6101 broad.mit.edu 37 8 55534822 55534822 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:55534822G>A ENST00000220676.1 + 3 909 c.761G>A c.(760-762)gGa>gAa p.G254E NM_006269.1 NP_006260.1 P56715 RP1_HUMAN retinitis pigmentosa 1 (autosomal dominant) 254 axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment microtubule binding p.G254E(1)|p.G64E(1) NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2) 169 all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123) OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285) TACCCCAAGGGAAATGCAAAG 0.418000 35 71 0 0 1 0 0 ITIH5 80760 broad.mit.edu 37 10 7605262 7605262 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:7605262C>T ENST00000256861.6 - 14 2691 c.2613G>A c.(2611-2613)gtG>gtA p.V871V ITIH5_ENST00000397146.2_Intron|ITIH5_ENST00000298441.6_Silent_p.V657V|ITIH5_ENST00000446830.2_Silent_p.V653V NM_030569.6 NP_085046.5 Q86UX2 ITIH5_HUMAN inter-alpha-trypsin inhibitor heavy chain family, member 5 871 hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3) 75 GCCCCTCTCCCACCTGAAGGA 0.567000 17 76 0 0 1 0 0 GIPC2 54810 broad.mit.edu 37 1 78511854 78511854 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:78511854G>A ENST00000370759.3 + 1 269 c.76G>A c.(76-78)Ggc>Agc p.G26S GIPC2_ENST00000476882.1_Intron NM_017655.4 NP_060125.4 Q8TF65 GIPC2_HUMAN GIPC PDZ domain containing family, member 2 26 cytoplasm endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(2) 20 CGAGCCGACGGGCGCGGGCGG 0.741000 8 13 0 0 1 0 0 SETDB1 9869 broad.mit.edu 37 1 150921923 150921923 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:150921923C>T ENST00000271640.5 + 12 1692 c.1502C>T c.(1501-1503)tCt>tTt p.S501F SETDB1_ENST00000368969.4_Missense_Mutation_p.S501F|SETDB1_ENST00000459773.1_Intron NM_001145415.1|NM_012432.3 NP_001138887.1|NP_036564.3 Q15047 SETB1_HUMAN SET domain, bifurcated 1 501 regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|Golgi apparatus|nucleus|plasma membrane DNA binding|histone-lysine N-methyltransferase activity|protein binding|zinc ion binding NS(1)|large_intestine(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1) 12 all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211) TCTGTGGGCTCTGGTCATTCC 0.507000 42 198 0 0 1 0 0 MMP27 64066 broad.mit.edu 37 11 102564722 102564722 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:102564722G>A ENST00000260229.4 - 8 1199 c.1108C>T c.(1108-1110)Cca>Tca p.P370S NM_022122.2 NP_071405.2 Q9H306 MMP27_HUMAN matrix metallopeptidase 27 370 Hemopexin-like 2. collagen catabolic process|proteolysis proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(12)|ovary(2)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 all_cancers(8;0.000843)|all_epithelial(12;0.00362)|Lung NSC(15;0.21) all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) Epithelial(9;0.0509)|Lung(13;0.0696)|LUSC - Lung squamous cell carcinoma(19;0.13)|all cancers(10;0.176) BRCA - Breast invasive adenocarcinoma(274;0.0151) ACACGTCCTGGAAAACCTAAT 0.408000 57 50 0 0 1 0 0 KCNK17 89822 broad.mit.edu 37 6 39267454 39267454 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:39267454G>A ENST00000373231.4 - 5 980 c.748C>T c.(748-750)Ctc>Ttc p.L250F KCNK17_ENST00000453413.2_3'UTR NM_031460.3 NP_113648.2 Q96T54 KCNKH_HUMAN potassium channel, subfamily K, member 17 250 integral to membrane potassium channel activity|voltage-gated ion channel activity endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(2) 14 ATCCCAAAGAGGATCCACAGG 0.567000 87 260 0 0 1 0 0 ZNF668 79759 broad.mit.edu 37 16 31073580 31073580 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr16:31073580G>A ENST00000538906.1 - 3 1453 c.669C>T c.(667-669)ccC>ccT p.P223P ZNF668_ENST00000300849.4_Silent_p.P223P|ZNF668_ENST00000394983.2_Silent_p.P223P|ZNF668_ENST00000426488.2_Silent_p.P246P|ZNF668_ENST00000535577.1_Silent_p.P223P|ZNF668_ENST00000539836.3_Silent_p.P246P NM_001172668.1 NP_001166139.1 Q96K58 ZN668_HUMAN zinc finger protein 668 223 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1) 27 AGCAGAGGAAGGGGCGCTCGC 0.657000 12 33 0 0 1 0 0 TBL2 26608 broad.mit.edu 37 7 72987262 72987262 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:72987262G>A ENST00000305632.5 - 5 878 c.637C>T c.(637-639)Ctc>Ttc p.L213F TBL2_ENST00000432538.1_Missense_Mutation_p.L177F|TBL2_ENST00000459913.1_5'UTR|TBL2_ENST00000452475.1_Missense_Mutation_p.L213F NM_012453.2 NP_036585.1 Q9Y4P3 TBL2_HUMAN transducin (beta)-like 2 213 endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 19 Lung NSC(55;0.0659)|all_lung(88;0.152) CTCCAGATGAGGACAGTGGTG 0.547000 27 99 0 0 1 0 0 CDCA2 157313 broad.mit.edu 37 8 25364730 25364730 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:25364730C>T ENST00000330560.3 + 15 3025 c.2548C>T c.(2548-2550)Cac>Tac p.H850Y CDCA2_ENST00000521098.2_3'UTR|CDCA2_ENST00000380665.3_Missense_Mutation_p.H835Y NM_152562.2 NP_689775.2 Q69YH5 CDCA2_HUMAN cell division cycle associated 2 850 cell division|mitosis cytoplasm|nucleus breast(3)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(7)|lung(10)|ovary(1)|prostate(3) 35 all_cancers(63;0.0378)|Ovarian(32;0.000878)|all_epithelial(46;0.0162)|Breast(100;0.0164)|Prostate(55;0.191) UCEC - Uterine corpus endometrioid carcinoma (27;0.022)|Epithelial(17;1.37e-11)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0443) AAATGGAAATCACACACCATC 0.393000 33 53 0 0 1 0 0 POU3F4 5456 broad.mit.edu 37 X 82763776 82763776 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chrX:82763776G>A ENST00000373200.2 + 1 508 c.444G>A c.(442-444)ggG>ggA p.G148G RP3-326L13.2_ENST00000607095.1_RNA NM_000307.3 NP_000298.2 P49335 PO3F4_HUMAN POU class 3 homeobox 4 148 sensory perception of sound nucleus sequence-specific DNA binding transcription factor activity breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2) 37 TGGAACACGGGGGACTCACCC 0.682000 13 5 0 0 1 0 0 OR2T3 343173 broad.mit.edu 37 1 248637182 248637182 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:248637182G>A ENST00000359594.2 + 1 556 c.531G>A c.(529-531)agG>agA p.R177R NM_001005495.1 NP_001005495.1 Q8NH03 OR2T3_HUMAN olfactory receptor, family 2, subfamily T, member 3 177 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|endometrium(5)|lung(19)|ovary(1)|prostate(1)|skin(3) 31 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) GCCAGTCTAGGAAAATCCTGA 0.527000 8 118 0 0 1 0 0 GIMAP1 170575 broad.mit.edu 37 7 150417193 150417193 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:150417193G>A ENST00000307194.5 + 3 241 c.101G>A c.(100-102)gGg>gAg p.G34E NM_130759.3 NP_570115.1 GTPase, IMAP family member 1 NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 28 OV - Ovarian serous cystadenocarcinoma(82;0.0145) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) ATCCTTGTTGGGAGAACAGGG 0.572000 94 378 0 0 1 0 0 ASXL3 80816 broad.mit.edu 37 18 31323921 31323921 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr18:31323921C>T ENST00000269197.5 + 12 4109 c.4109C>T c.(4108-4110)cCt>cTt p.P1370L NM_030632.1 NP_085135.1 Q9C0F0 ASXL3_HUMAN additional sex combs like 3 (Drosophila) 1370 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1) 43 AACAGATTTCCTTCTGAGAAG 0.502000 OREG0024911 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 69 128 0 0 1 0 0 FLT3 2322 broad.mit.edu 37 13 28626694 28626694 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr13:28626694G>A ENST00000380982.4 - 5 683 c.602C>T c.(601-603)tCa>tTa p.S201L FLT3_ENST00000241453.7_Missense_Mutation_p.S201L|FLT3_ENST00000537084.1_Missense_Mutation_p.S201L P36888 FLT3_HUMAN fms-related tyrosine kinase 3 201 positive regulation of cell proliferation integral to plasma membrane ATP binding|vascular endothelial growth factor receptor activity NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 12390 Acute lymphoblastic leukemia(6;0.04) Lung SC(185;0.0156)|Ovarian(182;0.0392) Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105) OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212) Sorafenib(DB00398)|Sunitinib(DB01268) TTCCCCCTGTGAATCGCAAAG 0.423000 """Mis, O""" """AML, ALL""" 31 76 0 0 1 0 0 CD81 975 broad.mit.edu 37 11 2415365 2415365 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:2415365C>T ENST00000263645.5 + 3 478 c.222C>T c.(220-222)ttC>ttT p.F74F CD81_ENST00000526072.1_Silent_p.F3F|CD81_ENST00000381036.3_Silent_p.F112F|CD81_ENST00000524805.1_3'UTR|CD81_ENST00000481687.1_Silent_p.F80F|CD81_ENST00000492627.1_Silent_p.F3F NM_004356.3 NP_004347.1 P60033 CD81_HUMAN CD81 molecule 74 activation of MAPK activity|cell proliferation|phosphatidylinositol biosynthetic process|positive regulation of 1-phosphatidylinositol 4-kinase activity|positive regulation of cell proliferation|positive regulation of peptidyl-tyrosine phosphorylation|protein localization|regulation of immune response|virion attachment, binding of host cell surface receptor integral to plasma membrane protein binding p.F74F(1) endometrium(1)|lung(3)|skin(1) 5 all_epithelial(84;0.000161)|Breast(177;0.000962)|Medulloblastoma(188;0.00106)|Ovarian(85;0.0014)|all_neural(188;0.0137)|Lung NSC(207;0.209) BRCA - Breast invasive adenocarcinoma(625;0.000338)|LUSC - Lung squamous cell carcinoma(625;0.191) TCATGATGTTCGTTGGCTTCC 0.662000 30 33 0 0 1 0 0 FCRL6 343413 broad.mit.edu 37 1 159779289 159779289 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:159779289C>T ENST00000321935.6 + 6 809 c.723C>T c.(721-723)tcC>tcT p.S241S FCRL6_ENST00000368106.3_Silent_p.S234S|FCRL6_ENST00000392235.3_Silent_p.S139S|FCRL6_ENST00000339348.5_Silent_p.S234S Q6DN72 FCRL6_HUMAN Fc receptor-like 6 234 Ig-like C2-type 3. integral to membrane NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1) 24 all_hematologic(112;0.0597) AGAGGGGCTCCCCTCCGATCC 0.597000 53 50 0 0 1 0 0 DIP2C 22982 broad.mit.edu 37 10 355996 355996 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:355996C>T ENST00000280886.6 - 32 4048 c.3961G>A c.(3961-3963)Gac>Aac p.D1321N NM_014974.2 NP_055789.1 Q9Y2E4 DIP2C_HUMAN DIP2 disco-interacting protein 2 homolog C (Drosophila) 1321 nucleus catalytic activity|transcription factor binding breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4) 81 all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235) OV - Ovarian serous cystadenocarcinoma(33;0.136) Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106) GCTCTCATGTCCACGTAGACA 0.478000 36 71 0 0 1 0 0 RWDD3 25950 broad.mit.edu 37 1 95709865 95709865 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:95709865C>T ENST00000429514.2 + 3 345 c.139C>T c.(139-141)Cct>Tct p.P47S RWDD3_ENST00000495272.1_3'UTR|RP11-57H12.6_ENST00000604534.1_3'UTR|RP11-57H12.5_ENST00000444665.1_RNA|RWDD3_ENST00000263893.6_Missense_Mutation_p.P62S|RWDD3_ENST00000370202.4_Missense_Mutation_p.P62S Q9Y3V2 RWDD3_HUMAN RWD domain containing 3 62 RWD. V -> A (in dbSNP:rs259358). cytoplasm|nucleus protein binding kidney(1)|large_intestine(2)|lung(6)|ovary(1) 10 all_epithelial(167;5.99e-05)|all_lung(203;0.00168)|Lung NSC(277;0.00769) all cancers(265;0.112)|Epithelial(280;0.229) AGTCAATTATCCTTCATGTCT 0.433000 37 81 0 0 1 0 0 CEACAM3 1084 broad.mit.edu 37 19 42314003 42314003 + Splice_Site SNP A A T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:42314003A>T ENST00000357396.3 + 4 784 c.542_splice c.e4-1 p.R181_splice CEACAM3_ENST00000344550.4_Intron|CEACAM3_ENST00000221999.4_Intron NM_001815.2 NP_001806.2 P40198 CEAM3_HUMAN carcinoembryonic antigen-related cell adhesion molecule 3 181 integral to membrane endometrium(2)|kidney(4)|large_intestine(1)|lung(4)|prostate(3)|skin(4)|stomach(1) 19 CCTTTCCTAGAACCAGCATCC 0.577000 155 334 0 0 1 0 0 LIPJ 142910 broad.mit.edu 37 10 90354494 90354494 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:90354494G>A ENST00000371939.3 + 6 714 c.400G>A c.(400-402)Gaa>Aaa p.E134K NM_001010939.2 NP_001010939.2 Q5W064 LIPJ_HUMAN lipase, family member J 134 lipid catabolic process hydrolase activity large_intestine(4)|lung(4)|ovary(1) 9 all_cancers(4;2.79e-10)|Prostate(4;1.68e-15)|all_epithelial(4;1.43e-09)|Colorectal(252;0.0381)|Breast(4;0.141)|Melanoma(5;0.2)|all_hematologic(4;0.222) Colorectal(12;1.02e-05)|COAD - Colon adenocarcinoma(12;1.54e-05) CAGACAAGAGGAAATATTTTA 0.338000 47 69 0 0 1 0 0 AMPH 273 broad.mit.edu 37 7 38431380 38431380 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:38431380G>A ENST00000356264.2 - 19 2062 c.1847C>T c.(1846-1848)tCt>tTt p.S616F AMPH_ENST00000325590.5_Missense_Mutation_p.S574F|AMPH_ENST00000428293.2_Missense_Mutation_p.S574F NM_001635.3 NP_001626.1 P49418 AMPH_HUMAN amphiphysin 616 endocytosis|synaptic transmission actin cytoskeleton|cell junction|synaptic vesicle membrane breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2) 62 CAATTCCTGAGAGGCCTCCCT 0.507000 35 66 0 0 1 0 0 WASF2 10163 broad.mit.edu 37 1 27736338 27736338 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:27736338G>A ENST00000430629.2 - 8 1402 c.1187C>T c.(1186-1188)cCt>cTt p.P396L WASF2_ENST00000536657.1_Intron NM_001201404.1|NM_006990.3 NP_001188333.1|NP_008921.1 Q9Y6W5 WASF2_HUMAN WAS protein family, member 2 396 Poly-Pro. actin cytoskeleton organization|G-protein signaling, coupled to cAMP nucleotide second messenger actin cytoskeleton|lamellipodium actin binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 18 all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0446)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.7e-08)|COAD - Colon adenocarcinoma(152;2e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00139)|KIRC - Kidney renal clear cell carcinoma(1967;0.00204)|STAD - Stomach adenocarcinoma(196;0.00325)|READ - Rectum adenocarcinoma(331;0.0481) aggaggaggaggagggggagg 0.647000 30 39 0 0 1 0 0 MSLNL 401827 broad.mit.edu 37 16 830196 830196 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr16:830196G>A ENST00000293892.3 - 3 804 c.805C>T c.(805-807)Ccc>Tcc p.P269S MSLNL_ENST00000442466.1_Intron Q96KJ4 MSLNL_HUMAN mesothelin-like 514 cell adhesion integral to membrane breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(15)|ovary(2)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2) 36 GTCCCGGCGGGAGCAGGGGCC 0.687000 3 29 0 0 1 0 0 C2orf78 388960 broad.mit.edu 37 2 74043659 74043659 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:74043659C>T ENST00000409561.1 + 3 2430 c.2309C>T c.(2308-2310)cCa>cTa p.P770L NM_001080474.1 NP_001073943.1 A6NCI8 CB078_HUMAN chromosome 2 open reading frame 78 770 cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|soft_tissue(1)|urinary_tract(1) 34 CCATCCCGACCAGCTCCTACC 0.547000 25 38 0 0 1 0 0 L3MBTL4 91133 broad.mit.edu 37 18 6264018 6264018 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr18:6264018C>T ENST00000400104.3 - 5 347 c.147G>A c.(145-147)caG>caA p.Q49Q L3MBTL4_ENST00000400105.2_Silent_p.Q49Q|L3MBTL4_ENST00000317931.7_Silent_p.Q49Q|L3MBTL4_ENST00000284898.6_Silent_p.Q49Q Q8NA19 LMBL4_HUMAN l(3)mbt-like 4 (Drosophila) 49 chromatin modification nucleus sequence-specific DNA binding transcription factor activity|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 Colorectal(10;0.0249) ACCATGCTCCCTGTGCAGCCG 0.423000 36 97 0 0 1 0 0 CRISP2 7180 broad.mit.edu 37 6 49667581 49667581 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:49667581C>T ENST00000339139.4 - 6 443 c.207G>A c.(205-207)acG>acA p.T69T NM_001142407.2|NM_001142408.2|NM_001142417.2|NM_001142435.2|NM_001261822.1|NM_003296.3 NP_001135879.1|NP_001135880.1|NP_001135889.1|NP_001135907.1|NP_001248751.1|NP_003287.1 P16562 CRIS2_HUMAN cysteine-rich secretory protein 2 69 extracellular space kidney(1)|large_intestine(2)|lung(10)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 19 Lung NSC(77;0.0161) KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156) TTTGGGCATTCGTTGTTACCT 0.343000 28 55 0 0 1 0 0 OR13C5 138799 broad.mit.edu 37 9 107361169 107361169 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:107361169G>A ENST00000374779.2 - 1 619 c.526C>T c.(526-528)Cat>Tat p.H176Y NM_001004482.1 NP_001004482.1 Q8NGS8 O13C5_HUMAN olfactory receptor, family 13, subfamily C, member 5 176 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(4)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(4) 28 CAGGTGAAATGATTGATGATG 0.448000 77 140 0 0 1 0 0 SMG5 23381 broad.mit.edu 37 1 156222797 156222797 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:156222797G>A ENST00000361813.5 - 18 2719 c.2575C>T c.(2575-2577)Cct>Tct p.P859S SMG5_ENST00000368267.4_Intron NM_015327.2 NP_056142.2 Q9UPR3 SMG5_HUMAN SMG5 nonsense mediated mRNA decay factor 859 mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation cytoplasm|nucleus protein phosphatase 2A binding NS(1)|breast(3)|endometrium(8)|kidney(2)|large_intestine(7)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 48 Hepatocellular(266;0.158) TGGGTGTCAGGGACGAGGTAG 0.607000 11 30 0 0 1 0 0 SRL 6345 broad.mit.edu 37 16 4242171 4242171 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr16:4242171G>A ENST00000399609.3 - 6 1417 c.1405C>T c.(1405-1407)Cgc>Tgc p.R469C SRL_ENST00000537996.1_Missense_Mutation_p.R427C NM_001098814.1 NP_001092284.1 Q86TD4 SRCA_HUMAN sarcalumenin 928 Acidic domain, probably binds calcium (By similarity). sarcoplasmic reticulum lumen GTP binding|GTPase activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(3) 21 TTCCTGTAGCGATTTTTTGGT 0.532000 72 153 0 0 1 0 0 FLG2 388698 broad.mit.edu 37 1 152327864 152327864 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:152327864C>T ENST00000388718.5 - 3 2470 c.2398G>A c.(2398-2400)Ggc>Agc p.G800S FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA NM_001014342.2 NP_001014364.1 Q5D862 FILA2_HUMAN filaggrin family member 2 800 Ser-rich. calcium ion binding|structural molecule activity NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 188 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TGACTTGAGCCTGACCCATGT 0.522000 8 653 0 0 1 0 0 ZNF566 84924 broad.mit.edu 37 19 36940669 36940669 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:36940669G>A ENST00000454319.1 - 5 604 c.470C>T c.(469-471)cCa>cTa p.P157L ZNF566_ENST00000493391.1_Missense_Mutation_p.P52L|ZNF566_ENST00000424129.2_Missense_Mutation_p.P156L|ZNF566_ENST00000434377.2_Missense_Mutation_p.P156L|ZNF566_ENST00000392170.2_Missense_Mutation_p.P157L NM_001145343.1|NM_001145344.1|NM_001145345.1 NP_001138815.1|NP_001138816.1|NP_001138817.1 Q969W8 ZN566_HUMAN zinc finger protein 566 156 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 24 Esophageal squamous(110;0.162) TGTGAAGGATGGATGGTGACT 0.388000 72 159 0 0 1 0 0 VCAN 1462 broad.mit.edu 37 5 82868241 82868241 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:82868241G>A ENST00000265077.3 + 13 10307 c.9742G>A c.(9742-9744)Gag>Aag p.E3248K VCAN_ENST00000502527.2_Missense_Mutation_p.E507K|VCAN-AS1_ENST00000513899.1_RNA|VCAN_ENST00000512590.2_Missense_Mutation_p.E1446K|VCAN_ENST00000342785.4_Missense_Mutation_p.E1494K|VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000343200.5_Missense_Mutation_p.E2261K NM_004385.4 NP_004376.2 P13611 CSPG2_HUMAN versican 3248 C-type lectin. cell adhesion|cell recognition|glial cell migration extracellular space|proteinaceous extracellular matrix calcium ion binding|hyaluronic acid binding|sugar binding NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 190 Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142) OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29) ACAGCAATACGAGAATTGGAG 0.418000 40 99 0 0 1 0 0 LRRK1 79705 broad.mit.edu 37 15 101529477 101529477 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr15:101529477C>T ENST00000284395.5 + 7 1027 c.627C>T c.(625-627)ttC>ttT p.F209F LRRK1_ENST00000532029.2_Silent_p.F212F|LRRK1_ENST00000388948.3_Silent_p.F212F Q38SD2 LRRK1_HUMAN leucine-rich repeat kinase 1 212 small GTPase mediated signal transduction mitochondrion ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1) 72 Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094) OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23) TTGCAATATTCCTGCTTCGGC 0.463000 44 146 0 0 1 0 0 THSD7A 221981 broad.mit.edu 37 7 11676405 11676405 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:11676405C>T ENST00000423059.3 - 2 625 c.374G>A c.(373-375)aGa>aAa p.R125K THSD7A_ENST00000480061.1_5'UTR NM_015204.2 NP_056019.1 Q9UPZ6 THS7A_HUMAN thrombospondin, type I, domain containing 7A 125 integral to membrane NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11) 113 UCEC - Uterine corpus endometrioid carcinoma (126;0.163) AGGTCCCAGTCTCCAGTCGTA 0.463000 HNSCC(18;0.044) 33 57 0 0 1 0 0 DAXX 1616 broad.mit.edu 37 6 33288779 33288779 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:33288779G>A ENST00000374542.5 - 3 977 c.773C>T c.(772-774)cCc>cTc p.P258L DAXX_ENST00000414083.2_Missense_Mutation_p.P183L|DAXX_ENST00000477162.1_Intron|DAXX_ENST00000266000.6_Missense_Mutation_p.P258L NM_001141969.1|NM_001141970.1|NM_001350.4 NP_001135441.1|NP_001135442.1|NP_001341.1 Q9UER7 DAXX_HUMAN death-domain associated protein 258 activation of JUN kinase activity|androgen receptor signaling pathway|apoptosis|induction of apoptosis via death domain receptors|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|regulation of protein ubiquitination|transcription, DNA-dependent chromosome, centromeric region|cytosol|nucleolus|PML body androgen receptor binding|heat shock protein binding|p53 binding|protein homodimerization activity|protein N-terminus binding|receptor signaling protein activity|transcription factor binding|ubiquitin protein ligase binding breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(2)|lung(7)|ovary(3)|pancreas(18)|prostate(3)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 55 GCCACGGTAGGGGATGCGCTG 0.582000 """Mis, F, N""" Pancreatic neuroendocrine tumors. Paediatric GBM 31 196 0 0 1 0 0 MMP3 4314 broad.mit.edu 37 11 102713442 102713442 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:102713442G>A ENST00000299855.5 - 2 567 c.311C>T c.(310-312)cCt>cTt p.P104L NM_002422.3 NP_002413.1 P08254 MMP3_HUMAN matrix metallopeptidase 3 (stromelysin 1, progelatinase) 104 collagen catabolic process|proteolysis extracellular space|proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 22 all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) BRCA - Breast invasive adenocarcinoma(274;0.0142) Marimastat(DB00786)|Simvastatin(DB00641) CGGGATGCCAGGAAAGGTTCT 0.478000 29 14 0 0 1 0 0 TRANK1 9881 broad.mit.edu 37 3 36898705 36898705 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:36898705G>A ENST00000429976.2 - 12 2623 c.2376C>T c.(2374-2376)atC>atT p.I792I TRANK1_ENST00000428977.2_Silent_p.I242I|TRANK1_ENST00000301807.6_Silent_p.I242I O15050 TRNK1_HUMAN tetratricopeptide repeat and ankyrin repeat containing 1 792 DNA repair ATP binding|ATP-dependent DNA helicase activity|DNA binding NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 73 AAGTGCACTCGATCTCCCAGG 0.493000 120 260 0 0 1 0 0 ZNF721 170960 broad.mit.edu 37 4 435916 435916 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:435916G>A ENST00000338977.5 - 2 2352 c.2304C>T c.(2302-2304)ccC>ccT p.P768P ZNF721_ENST00000506646.1_Intron|ZNF721_ENST00000511833.2_Silent_p.P780P|ZNF721_ENST00000507078.1_Intron|ABCA11P_ENST00000451020.2_RNA zinc finger protein 721 endometrium(2)|kidney(2)|large_intestine(15)|lung(6)|ovary(1)|skin(1)|stomach(5)|urinary_tract(1) 33 TACATTTGTAGGGTTTCTTTC 0.353000 15 28 0 0 1 0 0 OAS2 4939 broad.mit.edu 37 12 113425071 113425071 + Nonsense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:113425071C>T ENST00000392583.2 + 2 613 c.406C>T c.(406-408)Cag>Tag p.Q136* OAS2_ENST00000342315.4_Nonsense_Mutation_p.Q136*|RP1-71H24.1_ENST00000552784.1_RNA|OAS2_ENST00000449768.2_Nonsense_Mutation_p.Q136* NM_002535.2 NP_002526.2 P29728 OAS2_HUMAN 2'-5'-oligoadenylate synthetase 2, 69/71kDa 136 OAS domain 1. interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway endoplasmic reticulum|membrane|microsome|mitochondrion|nucleus ATP binding|nucleotidyltransferase activity|RNA binding NS(1)|breast(2)|endometrium(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 28 CACAAAAAATCAGAGAATCTC 0.483000 21 63 0 0 1 0 0 ABI3BP 25890 broad.mit.edu 37 3 100527037 100527037 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:100527037G>A ENST00000471714.1 - 50 3780 c.3671C>T c.(3670-3672)tCa>tTa p.S1224L ABI3BP_ENST00000284322.5_Missense_Mutation_p.S547L|ABI3BP_ENST00000383691.4_Missense_Mutation_p.S501L Q7Z7G0 TARSH_HUMAN ABI family, member 3 (NESH) binding protein 547 extracellular space central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 50 TGGGCGTGGTGATGTTTTTGG 0.403000 10 18 0 0 1 0 0 AGT 183 broad.mit.edu 37 1 230846140 230846140 + Missense_Mutation SNP G G T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:230846140G>T ENST00000366667.4 - 2 671 c.457C>A c.(457-459)Cac>Aac p.H153N NM_000029.3 NP_000020.1 P01019 ANGT_HUMAN angiotensinogen (serpin peptidase inhibitor, clade A, member 8) 153 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|blood vessel remodeling|cell-cell signaling|cellular lipid metabolic process|G-protein signaling, coupled to cGMP nucleotide second messenger|kidney development|low-density lipoprotein particle remodeling|negative regulation of nerve growth factor receptor signaling pathway|nitric oxide mediated signal transduction|positive regulation of activation of JAK2 kinase activity|positive regulation of apoptosis|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of cardiac muscle hypertrophy|positive regulation of cholesterol esterification|positive regulation of cytokine production|positive regulation of endothelial cell migration|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of fibroblast proliferation|positive regulation of inflammatory response|positive regulation of NAD(P)H oxidase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein tyrosine kinase activity|positive regulation of reactive oxygen species metabolic process|positive regulation of transcription, DNA-dependent|regulation of proteolysis|regulation of renal output by angiotensin|regulation of renal sodium excretion|regulation of vasoconstriction|renin-angiotensin regulation of aldosterone production|response to muscle activity involved in regulation of muscle adaptation extracellular space|soluble fraction acetyltransferase activator activity|growth factor activity|hormone activity|serine-type endopeptidase inhibitor activity|type 1 angiotensin receptor binding|type 2 angiotensin receptor binding endometrium(5)|kidney(1)|large_intestine(6)|lung(7)|pancreas(1)|prostate(5) 25 Breast(184;0.0735)|Ovarian(103;0.183) all_cancers(173;4.64e-23)|all_epithelial(177;3.61e-18)|Breast(1374;0.00093)|all_neural(198;0.0604)|Prostate(94;0.167) GBM - Glioblastoma multiforme(131;4.4e-06)|Colorectal(1306;5.46e-06)|COAD - Colon adenocarcinoma(196;0.000256)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) Aliskiren(DB01258)|Atorvastatin(DB01076)|Cilazapril(DB01340)|Irbesartan(DB01029)|Lisinopril(DB00722)|Ouabain(DB01092)|Simvastatin(DB00641) TCAGCTGTGTGGTCCAAGGCT 0.617000 13 198 1.05317e-09 1.05911e-09 1 1 0 RBM26 64062 broad.mit.edu 37 13 79943035 79943035 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr13:79943035G>A ENST00000438737.2 - 6 1165 c.725C>T c.(724-726)tCa>tTa p.S242L RBM26_ENST00000267229.7_Missense_Mutation_p.S242L|RBM26_ENST00000438724.1_Missense_Mutation_p.S242L Q5T8P6 RBM26_HUMAN RNA binding motif protein 26 242 mRNA processing nucleotide binding|protein binding|RNA binding|zinc ion binding NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 33 Acute lymphoblastic leukemia(28;0.0279) GBM - Glioblastoma multiforme(99;0.0188) GTGGCCAGATGAAATACTAGG 0.393000 38 60 0 0 1 0 0 SLC25A14 9016 broad.mit.edu 37 X 129474327 129474327 + Splice_Site SNP A A C TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chrX:129474327A>C ENST00000218197.5 + 1 302 c.75_splice c.e1+1 p.G25_splice SLC25A14_ENST00000467496.1_3'UTR|SLC25A14_ENST00000339231.3_Intron|SLC25A14_ENST00000543953.1_Intron|SLC25A14_ENST00000361980.5_Intron|SLC25A14_ENST00000545805.1_Splice_Site_p.G25_splice NM_003951.2|NM_022810.1 NP_003942.1|NP_073721.1 O95258 UCP5_HUMAN solute carrier family 25 (mitochondrial carrier, brain), member 14 25 aerobic respiration|mitochondrial transport integral to plasma membrane|mitochondrial inner membrane binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(7)|ovary(1) 22 TTGTAAGCGGAGTAAGCAAAC 0.478000 43 13 0 0 1 0 0 CD180 4064 broad.mit.edu 37 5 66479973 66479973 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:66479973G>A ENST00000256447.4 - 3 855 c.698C>T c.(697-699)cCa>cTa p.P233L NM_005582.2 NP_005573.2 Q99467 CD180_HUMAN CD180 molecule 233 inflammatory response|innate immune response integral to membrane|plasma membrane receptor activity cervix(1)|endometrium(2)|kidney(7)|large_intestine(12)|liver(1)|lung(8)|ovary(1)|stomach(2) 34 Lung NSC(167;4.94e-05)|Prostate(74;0.00601)|Ovarian(174;0.0654)|Breast(144;0.198)|Colorectal(97;0.234) Lung(70;0.0046) AGACAAATTTGGAGTTCCTCC 0.398000 32 66 0 0 1 0 0 ANKRD20A11P 391267 broad.mit.edu 37 21 15326390 15326390 + RNA SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr21:15326390C>T ENST00000344693.5 - 0 817 NR_027270.1 TTCTCACCTTCTCCTTTTCCA 0.468000 39 75 0 0 1 0 0 ZSCAN4 201516 broad.mit.edu 37 19 58189789 58189789 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:58189789G>A ENST00000318203.5 + 5 1515 c.818G>A c.(817-819)gGg>gAg p.G273E NM_152677.2 NP_689890.1 Q8NAM6 ZSCA4_HUMAN zinc finger and SCAN domain containing 4 273 telomere maintenance via telomere lengthening|viral reproduction nuclear chromosome, telomeric region DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(3)|large_intestine(5)|liver(2)|lung(17)|ovary(1)|skin(1)|stomach(1) 30 Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) ATGGGAGCAGGGTGTATCTCT 0.493000 38 91 0 0 1 0 0 SPATA31C1 441452 broad.mit.edu 37 9 90535470 90535470 + RNA SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:90535470C>T ENST00000602681.1 + 0 1374 CTGCACTTTTCCCTCACCCAC 0.607000 10 414 0 0 1 0 0 POGLUT1 56983 broad.mit.edu 37 3 119209528 119209528 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:119209528C>T ENST00000295588.4 + 9 1012 c.928C>T c.(928-930)Cac>Tac p.H310Y NM_152305.2 NP_689518.1 Q8NBL1 PGLT1_HUMAN protein O-glucosyltransferase 1 310 endoplasmic reticulum lumen UDP-glucosyltransferase activity autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|prostate(1) 16 GCCATGGGTTCACTATATCCC 0.433000 61 119 0 0 1 0 0 PTPRB 5787 broad.mit.edu 37 12 70918340 70918340 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:70918340C>T ENST00000334414.6 - 33 6580 c.6536G>A c.(6535-6537)aGa>aAa p.R2179K RP11-588H23.3_ENST00000549359.1_RNA|PTPRB_ENST00000261266.5_Missense_Mutation_p.R1961K|PTPRB_ENST00000451516.2_Missense_Mutation_p.R1871K|RP11-588H23.3_ENST00000547656.1_RNA|RP11-588H23.3_ENST00000546836.1_RNA|PTPRB_ENST00000550857.1_Missense_Mutation_p.R1871K|RP11-588H23.3_ENST00000549460.1_RNA|PTPRB_ENST00000538708.1_Missense_Mutation_p.R1871K|RP11-588H23.3_ENST00000548687.1_RNA|PTPRB_ENST00000550358.1_Missense_Mutation_p.R2091K|RP11-588H23.3_ENST00000551438.1_RNA NM_001109754.2 NP_001103224.1 P23467 PTPRB_HUMAN protein tyrosine phosphatase, receptor type, B 1961 angiogenesis integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3) 107 Renal(347;0.236) GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149) GAGGACATCTCTTACACACTG 0.428000 18 46 0 0 1 0 0 LCTL 197021 broad.mit.edu 37 15 66850188 66850188 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr15:66850188C>T ENST00000341509.5 - 8 925 c.794G>A c.(793-795)gGg>gAg p.G265E LCTL_ENST00000537670.1_Missense_Mutation_p.G92E NM_207338.2 NP_997221.2 Q6UWM7 LCTL_HUMAN lactase-like 265 carbohydrate metabolic process endoplasmic reticulum membrane|integral to membrane cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 CACAGGTTCCCCCCAGTCACA 0.527000 76 141 0 0 1 0 0 FLT1 2321 broad.mit.edu 37 13 29001985 29001985 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr13:29001985C>T ENST00000282397.4 - 9 1431 c.1180G>A c.(1180-1182)Gac>Aac p.D394N FLT1_ENST00000541932.1_Missense_Mutation_p.D394N|FLT1_ENST00000539099.1_Missense_Mutation_p.D394N NM_002019.4 NP_002010.2 P17948 VGFR1_HUMAN fms-related tyrosine kinase 1 394 Ig-like C2-type 4. cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway extracellular space|Golgi apparatus|integral to plasma membrane|nucleus ATP binding|growth factor binding|vascular endothelial growth factor receptor activity NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 115 Acute lymphoblastic leukemia(6;0.04) Lung SC(185;0.0262)|Breast(139;0.188) Colorectal(13;0.000674) all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207) Sunitinib(DB01268) TCAGTTACGTCCTTGATAATT 0.388000 40 101 0 0 1 0 0 RPRD2 23248 broad.mit.edu 37 1 150445800 150445800 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:150445800C>T ENST00000401000.4 + 10 4363 c.4298C>T c.(4297-4299)cCc>cTc p.P1433L RPRD2_ENST00000492220.1_3'UTR|RPRD2_ENST00000369068.4_Missense_Mutation_p.P1459L Q5VT52 RPRD2_HUMAN regulation of nuclear pre-mRNA domain containing 2 1459 Pro-rich. protein binding central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 37 TTCTTCCCTCCCAGGTACTGA 0.443000 5 148 0 0 1 0 0 TMEM150B 284417 broad.mit.edu 37 19 55832339 55832339 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:55832339G>A ENST00000326652.4 - 3 248 c.66C>T c.(64-66)atC>atT p.I22I TMEM150B_ENST00000438693.1_Silent_p.I22I A6NC51 T150B_HUMAN transmembrane protein 150B 22 integral to membrane endometrium(1)|large_intestine(1)|lung(1) 3 ACACTCACACGATCCAGACGC 0.632000 16 36 0 0 1 0 0 PNLDC1 154197 broad.mit.edu 37 6 160230123 160230123 + Missense_Mutation SNP A A C TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:160230123A>C ENST00000275275.5 + 9 854 c.683A>C c.(682-684)aAg>aCg p.K228T PNLDC1_ENST00000392167.3_Missense_Mutation_p.K239T NM_001271862.1|NM_173516.1 NP_001258791.1|NP_775787.1 Q8NA58 PNDC1_HUMAN poly(A)-specific ribonuclease (PARN)-like domain containing 1 228 integral to membrane|nucleus nucleic acid binding autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1) 31 Breast(66;0.00519)|Ovarian(120;0.123) OV - Ovarian serous cystadenocarcinoma(65;1.55e-18)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06) AGCTGTTGGAAGGAAAATATT 0.428000 41 89 0 0 1 0 0 KRT17 3872 broad.mit.edu 37 17 39780714 39780714 + Silent SNP G G A rs11553456 TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:39780714G>A ENST00000311208.8 - 1 115 c.48C>T c.(46-48)ggC>ggT p.G16G JUP_ENST00000540235.1_Intron NM_000422.2 NP_000413.1 Q04695 K1C17_HUMAN keratin 17 16 Head. epidermis development cytoplasm|intermediate filament protein binding|structural constituent of cytoskeleton central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|skin(1) 12 Breast(137;0.000307) GGCCGGAGGAGCCCTTGATGG 0.716000 22 41 0 0 1 0 0 MUC17 140453 broad.mit.edu 37 7 100676123 100676123 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:100676123C>T ENST00000306151.4 + 3 1490 c.1426C>T c.(1426-1428)Cct>Tct p.P476S NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 476 59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) TTCAACAACTCCTGTTGACTC 0.488000 232 707 0 0 1 0 0 STON2 85439 broad.mit.edu 37 14 81744662 81744662 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr14:81744662G>A ENST00000555447.1 - 6 1405 c.993C>T c.(991-993)ttC>ttT p.F331F STON2_ENST00000267540.2_Silent_p.F331F NM_001256430.1 NP_001243359.1 Q8WXE9 STON2_HUMAN stonin 2 331 endocytosis|intracellular protein transport|regulation of endocytosis clathrin adaptor complex|nucleolus protein binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|pancreas(2)|prostate(1)|skin(5) 34 BRCA - Breast invasive adenocarcinoma(234;0.0348) AGAAAGCACTGAAAGGGTTGA 0.522000 4 133 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179432606 179432606 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:179432606C>T ENST00000589042.1 - 326 78477 c.78253G>A c.(78253-78255)Gcc>Acc p.A26085T TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.A17145T|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.A24444T|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.A23517T|TTN_ENST00000460472.2_Missense_Mutation_p.A17020T|TTN_ENST00000342175.6_Missense_Mutation_p.A17212T|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 24444 Ig-like 126. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GGATCTCTGGCTACATAGCAT 0.408000 95 181 0 0 1 0 0 DSCAM 1826 broad.mit.edu 37 21 41719705 41719705 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr21:41719705C>T ENST00000400454.1 - 6 1579 c.1102G>A c.(1102-1104)Gaa>Aaa p.E368K NM_001389.3 NP_001380.2 O60469 DSCAM_HUMAN Down syndrome cell adhesion molecule 368 Ig-like C2-type 4. cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction protein binding p.E368Q(1) NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4) 142 all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103) ATAAGGTTTTCGTGGTTGATC 0.512000 118 237 0 0 1 0 0 PPM1A 5494 broad.mit.edu 37 14 60750126 60750126 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr14:60750126C>T ENST00000395076.4 + 2 1135 c.705C>T c.(703-705)atC>atT p.I235I PPM1A_ENST00000529574.1_Silent_p.I235I|PPM1A_ENST00000325658.3_Silent_p.I235I|PPM1A_ENST00000325642.3_Silent_p.I308I NM_021003.4 NP_066283.1 P35813 PPM1A_HUMAN protein phosphatase, Mg2+/Mn2+ dependent, 1A 235 cell cycle arrest|insulin receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway|protein dephosphorylation|Wnt receptor signaling pathway cytosol|nucleus|protein serine/threonine phosphatase complex magnesium ion binding|manganese ion binding|protein serine/threonine phosphatase activity|signal transducer activity cervix(1)|endometrium(1)|large_intestine(8)|lung(2)|skin(1)|upper_aerodigestive_tract(1) 14 OV - Ovarian serous cystadenocarcinoma(108;0.046) AGTTCATTATCCTTGCATGTG 0.413000 61 109 0 0 1 0 0 RUNX1T1 862 broad.mit.edu 37 8 92972499 92972499 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:92972499G>A ENST00000523629.1 - 12 2240 c.1786C>T c.(1786-1788)Cct>Tct p.P596S RUNX1T1_ENST00000520724.1_Missense_Mutation_p.P559S|RUNX1T1_ENST00000360348.2_Missense_Mutation_p.P559S|RUNX1T1_ENST00000396218.1_Missense_Mutation_p.P569S|RUNX1T1_ENST00000265814.3_Missense_Mutation_p.P596S|RUNX1T1_ENST00000518844.1_Missense_Mutation_p.P569S|RUNX1T1_ENST00000422361.2_Missense_Mutation_p.P559S|RUNX1T1_ENST00000436581.2_Missense_Mutation_p.P607S NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2 NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1 Q06455 MTG8_HUMAN runt-related transcription factor 1; translocated to, 1 (cyclin D-related) 596 generation of precursor metabolites and energy nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2) 86 BRCA - Breast invasive adenocarcinoma(11;0.0141) ATGGTGGAAGGGGTTCCCGGG 0.587000 8 12 0 0 1 0 0 REG1P 5969 broad.mit.edu 37 2 79364140 79364140 + RNA SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:79364140G>A ENST00000444841.1 - 0 285 ACAGAAAAAGGACAGCACAGA 0.463000 15 28 0 0 1 0 0 CASC4 113201 broad.mit.edu 37 15 44671902 44671902 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr15:44671902C>T ENST00000299957.6 + 7 1116 c.817C>T c.(817-819)Cct>Tct p.P273S CASC4_ENST00000345795.2_Missense_Mutation_p.P273S|CASC4_ENST00000360824.3_3'UTR NM_138423.3 NP_612432.2 Q6P4E1 CASC4_HUMAN cancer susceptibility candidate 4 273 integral to membrane NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(7)|ovary(1)|urinary_tract(2) 17 all_cancers(109;1.69e-13)|all_epithelial(112;3.94e-11)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.027) all cancers(107;2.91e-20)|GBM - Glioblastoma multiforme(94;1.57e-06)|COAD - Colon adenocarcinoma(120;0.217)|Colorectal(105;0.237) AAGGAAGCCTCCTATTTCAGT 0.348000 49 152 0 0 1 0 0 SYNJ1 8867 broad.mit.edu 37 21 34003615 34003615 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr21:34003615G>A ENST00000382491.3 - 28 4395 c.4271C>T c.(4270-4272)tCt>tTt p.S1424F SYNJ1_ENST00000433931.2_Missense_Mutation_p.S1510F|SYNJ1_ENST00000357345.3_3'UTR|SYNJ1_ENST00000382499.2_3'UTR|SYNJ1_ENST00000322229.7_Missense_Mutation_p.S1471F NM_001160306.1 NP_001153778.1 O43426 SYNJ1_HUMAN synaptojanin 1 1471 Pro-rich. inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 57 TTTTAATGTAGACTGGCCCTG 0.438000 58 124 0 0 1 0 0 SLC11A1 6556 broad.mit.edu 37 2 219254685 219254685 + Silent SNP T T C TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:219254685T>C ENST00000233202.6 + 9 1228 c.888T>C c.(886-888)ttT>ttC p.F296F SLC11A1_ENST00000539932.1_Silent_p.F178F NM_000578.3 NP_000569.3 P49279 NRAM1_HUMAN solute carrier family 11 (proton-coupled divalent metal ion transporter), member 1 296 activation of protein kinase activity|antigen processing and presentation of peptide antigen|cadmium ion transmembrane transport|cellular cadmium ion homeostasis|cellular iron ion homeostasis|defense response to Gram-negative bacterium|defense response to protozoan|divalent metal ion export|inflammatory response|interleukin-2 production|interleukin-3 production|iron ion transport|L-arginine import|macrophage activation|MHC class II biosynthetic process|mRNA stabilization|multicellular organismal iron ion homeostasis|negative regulation of cytokine production|nitrite transport|phagocytosis|positive regulation of dendritic cell antigen processing and presentation|positive regulation of interferon-gamma production|positive regulation of phagocytosis|positive regulation of T-helper 1 type immune response|positive regulation of transcription from RNA polymerase II promoter|respiratory burst|response to interferon-gamma|response to lipopolysaccharide|T cell cytokine production|T cell proliferation involved in immune response|vacuolar acidification|wound healing integral to plasma membrane|late endosome membrane|lysosome|phagocytic vesicle membrane|tertiary granule membrane manganese ion transmembrane transporter activity|metal ion:hydrogen antiporter activity|protein homodimerization activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 19 Renal(207;0.0474) Epithelial(149;1.16e-06)|all cancers(144;0.000195)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) CCGTCTCCTTTATCATCAACC 0.557000 13 62 0 0 1 0 0 ZAN 7455 broad.mit.edu 37 7 100349963 100349963 + RNA SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:100349963C>T ENST00000542585.1 + 0 2383 ZAN_ENST00000538115.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000546292.1_RNA NM_003386.1 NP_003377.1 Q9Y493 ZAN_HUMAN zonadhesin (gene/pseudogene) binding of sperm to zona pellucida|cell-cell adhesion integral to membrane|plasma membrane NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3) 139 Lung NSC(181;0.041)|all_lung(186;0.0581) STAD - Stomach adenocarcinoma(171;0.19) CAGAAAAACCCACCATCCCCA 0.522000 55 194 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9072751 9072751 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:9072751C>T ENST00000397910.4 - 3 14898 c.14695G>A c.(14695-14697)Gag>Aag p.E4899K NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 4901 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 ATGCTGGTCTCCCTCAGTTTA 0.488000 72 157 0 0 1 0 0 CEP192 55125 broad.mit.edu 37 18 13071106 13071106 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr18:13071106C>T ENST00000506447.1 + 28 5323 c.5243C>T c.(5242-5244)tCt>tTt p.S1748F CEP192_ENST00000430049.2_Missense_Mutation_p.S1273F|CEP192_ENST00000325971.8_Missense_Mutation_p.S1152F NM_032142.3 NP_115518.3 B7ZMF0 B7ZMF0_HUMAN centrosomal protein 192kDa 1343 NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 GAAGTCATTTCTTCAGGAAGT 0.413000 8 124 0 0 1 0 0 PSG1 5669 broad.mit.edu 37 19 43372459 43372459 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:43372459G>A ENST00000244296.2 - 5 1174 c.1037C>T c.(1036-1038)tCa>tTa p.S346L PSG1_ENST00000595124.1_Missense_Mutation_p.S253L|PSG1_ENST00000436291.2_Missense_Mutation_p.S346L|PSG1_ENST00000403380.3_Missense_Mutation_p.S253L|PSG1_ENST00000312439.6_Missense_Mutation_p.S346L|PSG1_ENST00000595356.1_Missense_Mutation_p.S346L NM_006905.2 NP_008836.2 pregnancy specific beta-1-glycoprotein 1 breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 30 Prostate(69;0.00682) GACTTCTCCTGAACGGTAATA 0.473000 64 112 0 0 1 0 0 EPPK1 83481 broad.mit.edu 37 8 144942217 144942217 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:144942217C>T ENST00000525985.1 - 2 5276 c.5205G>A c.(5203-5205)gaG>gaA p.E1735E P58107 EPIPL_HUMAN epiplakin 1 1735 cytoplasm|cytoskeleton protein binding|structural molecule activity NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) ACGTGAGGTTCTCGTGCGTGT 0.582000 6 189 0 0 1 0 0 CD163 9332 broad.mit.edu 37 12 7635987 7635987 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:7635987C>T ENST00000359156.4 - 12 3266 c.3064G>A c.(3064-3066)Gaa>Aaa p.E1022K CD163_ENST00000432237.2_Missense_Mutation_p.E1022K|CD163_ENST00000396620.3_Missense_Mutation_p.E1055K|CD163_ENST00000541972.1_Missense_Mutation_p.E1010K NM_004244.5 NP_004235.4 Q86VB7 C163A_HUMAN CD163 molecule 1022 SRCR 9. acute-phase response extracellular region|integral to plasma membrane protein binding|scavenger receptor activity breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4) 76 GCAGCGTCTTCCTTGTGCCCA 0.522000 22 39 0 0 1 0 0 PKHD1L1 93035 broad.mit.edu 37 8 110447540 110447540 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:110447540G>A ENST00000378402.5 + 29 3566 c.3462G>A c.(3460-3462)caG>caA p.Q1154Q NM_177531.4 NP_803875.2 Q86WI1 PKHL1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 1154 immune response cytosol|extracellular space|integral to membrane receptor activity NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4) 263 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) TTGTTTATCAGAGTCAGATCT 0.433000 HNSCC(38;0.096) 24 266 0 0 1 0 0 CCDC33 80125 broad.mit.edu 37 15 74625613 74625613 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr15:74625613G>A ENST00000321288.5 + 19 2599 c.2599G>A c.(2599-2601)Gag>Aag p.E867K CCDC33_ENST00000398814.3_Intron|CCDC33_ENST00000268082.4_Missense_Mutation_p.E257K|CCDC33_ENST00000558821.1_Intron Q8N5R6 CCD33_HUMAN coiled-coil domain containing 33 849 protein binding breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 39 GAGGCTACAAGAGACGCATGG 0.632000 8 6 0 0 1 0 0 APEX2 27301 broad.mit.edu 37 X 55033194 55033194 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chrX:55033194C>T ENST00000374987.3 + 6 949 c.883C>T c.(883-885)Ctg>Ttg p.L295L NM_014481.2 NP_055296.2 Q9UBZ4 APEX2_HUMAN APEX nuclease (apurinic/apyrimidinic endonuclease) 2 295 cell cycle|DNA recombination|DNA repair nucleus DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|endonuclease activity|exonuclease activity|zinc ion binding breast(1)|endometrium(8)|large_intestine(4)|lung(6)|prostate(1)|urinary_tract(1) 21 GGCCTCTTTCCTGCTGCCTGA 0.597000 Other BER factors 19 6 0 0 1 0 0 SCN3A 6328 broad.mit.edu 37 2 165956853 165956853 + Silent SNP A A G TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:165956853A>G ENST00000360093.3 - 22 4416 c.3925T>C c.(3925-3927)Tta>Cta p.L1309L SCN3A_ENST00000283254.7_Silent_p.L1309L|SCN3A_ENST00000409101.3_Silent_p.L1260L NM_001081677.1 NP_001075146.1 Q9NY46 SCN3A_HUMAN sodium channel, voltage-gated, type III, alpha subunit 1309 voltage-gated sodium channel complex voltage-gated sodium channel activity NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3) 120 Lamotrigine(DB00555) AGAGGTCTTAAAGCTCTTAAT 0.383000 52 52 0 0 1 0 0 PRG4 10216 broad.mit.edu 37 1 186277236 186277236 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:186277236G>A ENST00000445192.2 + 7 2430 c.2385G>A c.(2383-2385)aaG>aaA p.K795K PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367483.4_Silent_p.K754K|PRG4_ENST00000367485.4_Silent_p.K702K|PRG4_ENST00000367486.3_Silent_p.K752K NM_005807.3 NP_005798.2 Q92954 PRG4_HUMAN proteoglycan 4 795 59 X 8 AA repeats of K-X-P-X-P-T-T-X. cell proliferation|immune response extracellular region polysaccharide binding|protein binding|scavenger receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1) 102 CTACTCCCAAGAAGCCTGCCC 0.587000 7 490 0 0 1 0 0 C1QTNF9B 387911 broad.mit.edu 37 13 24466120 24466120 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr13:24466120C>T ENST00000382137.3 - 3 378 c.310G>A c.(310-312)Ggg>Agg p.G104R C1QTNF9B_ENST00000382057.3_Intron|C1QTNF9B-AS1_ENST00000382133.4_RNA|C1QTNF9B_ENST00000382140.2_Missense_Mutation_p.G104R|C1QTNF9B-AS1_ENST00000435039.2_RNA|C1QTNF9B_ENST00000556521.1_Intron|C1QTNF9B-AS1_ENST00000417034.1_RNA|C1QTNF9B_ENST00000382145.1_Intron NM_001007537.1 NP_001007538.1 B2RNN3 C1T9B_HUMAN C1q and tumor necrosis factor related protein 9B 104 Collagen-like 2. collagen breast(1)|central_nervous_system(1)|large_intestine(3)|lung(1) 6 CCTGCAAGCCCCTTGGGGCCA 0.552000 32 126 0 0 1 0 0 MCF2 4168 broad.mit.edu 37 X 138701863 138701863 + Silent SNP A A G TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chrX:138701863A>G ENST00000520602.1 - 10 1155 c.870T>C c.(868-870)ctT>ctC p.L290L MCF2_ENST00000519895.1_Silent_p.L290L|MCF2_ENST00000338585.6_Silent_p.L230L|MCF2_ENST00000414978.1_Silent_p.L290L|MCF2_ENST00000370578.4_Silent_p.L375L|MCF2_ENST00000370573.4_Silent_p.L230L|MCF2_ENST00000370576.4_Silent_p.L230L|MCF2_ENST00000536274.1_Silent_p.L191L P10911 MCF2_HUMAN MCF.2 cell line derived transforming sequence 230 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytoskeleton|cytosol|membrane|membrane fraction protein binding|Rho guanyl-nucleotide exchange factor activity NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1) 62 Acute lymphoblastic leukemia(192;0.000127) CTTCAGTCACAAGCTAAAAAT 0.279000 20 20 0 0 1 0 0 CDH10 1008 broad.mit.edu 37 5 24535831 24535831 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:24535831G>A ENST00000264463.4 - 4 1134 c.627C>T c.(625-627)ttC>ttT p.F209F NM_006727.3 NP_006718.2 Q9Y6N8 CAD10_HUMAN cadherin 10, type 2 (T2-cadherin) 209 Cadherin 2. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4) 185 STAD - Stomach adenocarcinoma(35;0.0556) GCTCCACAGAGAAATAGGGCT 0.438000 HNSCC(23;0.051) 23 24 0 0 1 0 0 VIPR1 7433 broad.mit.edu 37 3 42560815 42560815 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:42560815C>T ENST00000433647.1 + 4 786 c.162C>T c.(160-162)tcC>tcT p.S54S VIPR1-AS1_ENST00000596630.1_RNA|VIPR1-AS1_ENST00000593611.1_RNA|VIPR1_ENST00000438259.2_5'UTR|VIPR1_ENST00000473575.1_3'UTR|VIPR1-AS1_ENST00000593621.1_RNA|VIPR1-AS1_ENST00000452639.2_RNA|VIPR1-AS1_ENST00000602176.1_RNA|VIPR1-AS1_ENST00000601312.1_RNA|VIPR1-AS1_ENST00000600342.1_RNA|VIPR1-AS1_ENST00000598837.1_RNA|VIPR1_ENST00000325123.4_Silent_p.S95S|VIPR1_ENST00000543411.1_Silent_p.S48S NM_001251882.1 NP_001238811.1 P32241 VIPR1_HUMAN vasoactive intestinal peptide receptor 1 95 digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|immune response|muscle contraction|positive regulation of cell proliferation|synaptic transmission integral to plasma membrane vasoactive intestinal polypeptide receptor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|ovary(2)|skin(1)|urinary_tract(3) 18 KIRC - Kidney renal clear cell carcinoma(284;0.241) TCTTCTCCTCCATTCAAGGTA 0.582000 10 54 0 0 1 0 0 MPST 4357 broad.mit.edu 37 22 37425309 37425309 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr22:37425309C>T ENST00000397225.2 + 3 1563 c.648C>T c.(646-648)ttC>ttT p.F216F MPST_ENST00000397129.1_Silent_p.F236F|MPST_ENST00000341116.3_Silent_p.F216F|MPST_ENST00000401419.3_Silent_p.F216F|MPST_ENST00000429360.2_Silent_p.F216F|MPST_ENST00000404393.1_3'UTR|MPST_ENST00000404802.3_Silent_p.F216F P25325 THTM_HUMAN mercaptopyruvate sulfurtransferase 216 Rhodanese 2. cyanate catabolic process|response to toxin 3-mercaptopyruvate sulfurtransferase activity|thiosulfate sulfurtransferase activity central_nervous_system(2)|kidney(1)|lung(2)|prostate(1)|skin(1) 7 TCACAGACTTCCTGAGCCAGG 0.572000 18 40 0 0 1 0 0 TRHDE 29953 broad.mit.edu 37 12 72680625 72680625 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:72680625G>A ENST00000261180.4 + 2 1040 c.944G>A c.(943-945)gGa>gAa p.G315E NM_013381.2 NP_037513.1 Q9UKU6 TRHDE_HUMAN thyrotropin-releasing hormone degrading enzyme 315 cell-cell signaling|proteolysis|signal transduction integral to plasma membrane aminopeptidase activity|metallopeptidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 79 GAGGAAGATGGATGGGTTACG 0.408000 52 102 0 0 1 0 0 POMC 5443 broad.mit.edu 37 2 25384020 25384020 + Missense_Mutation SNP T T C TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:25384020T>C ENST00000405623.1 - 3 1189 c.734A>G c.(733-735)aAg>aGg p.K245R POMC_ENST00000264708.3_Missense_Mutation_p.K245R|POMC_ENST00000395826.2_Missense_Mutation_p.K245R|POMC_ENST00000380794.1_Missense_Mutation_p.K245R P01189 COLI_HUMAN proopiomelanocortin 245 cell-cell signaling|cellular nitrogen compound metabolic process|cellular pigmentation|generation of precursor metabolites and energy|hormone biosynthetic process|negative regulation of tumor necrosis factor production|neuropeptide signaling pathway|peptide hormone processing|positive regulation of transcription from RNA polymerase II promoter|regulation of appetite|regulation of blood pressure extracellular space|stored secretory granule hormone activity|type 1 melanocortin receptor binding|type 3 melanocortin receptor binding|type 4 melanocortin receptor binding central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(1) 12 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Hydrocortisone(DB00741)|Loperamide(DB00836)|Trilostane(DB01108) CGTCTGGCTCTTCTCGGAGGT 0.642000 33 58 0 0 1 0 0 HCFC2 29915 broad.mit.edu 37 12 104473325 104473325 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:104473325C>T ENST00000229330.4 + 4 680 c.576C>T c.(574-576)tcC>tcT p.S192S NM_013320.2 NP_037452.1 Q9Y5Z7 HCFC2_HUMAN host cell factor C2 192 regulation of transcription from RNA polymerase II promoter|viral reproduction cytoplasm|nucleus transcription coactivator activity breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 35 CAAGAGAATCCCACACAGCTG 0.433000 43 109 0 0 1 0 0 ANXA9 8416 broad.mit.edu 37 1 150960608 150960608 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:150960608G>A ENST00000368947.4 + 11 1215 c.739G>A c.(739-741)Gag>Aag p.E247K NM_003568.2 NP_003559.2 O76027 ANXA9_HUMAN annexin A9 247 cell-cell adhesion cell surface|cytosol acetylcholine receptor activity|calcium ion binding|calcium-dependent phospholipid binding|phosphatidylserine binding|protein homodimerization activity endometrium(1)|large_intestine(1)|lung(4)|skin(2) 8 all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211) AGAGCTGGAGGAGGCTGTCCA 0.527000 35 103 0 0 1 0 0 NOA1 84273 broad.mit.edu 37 4 57829662 57829662 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:57829662G>A ENST00000264230.4 - 7 3288 c.2051C>T c.(2050-2052)tCc>tTc p.S684F NM_032313.2 NP_115689.1 Q8NC60 CD014_HUMAN nitric oxide associated 1 684 GTP binding GTACATAAGGGAAGGAGGCTT 0.408000 79 204 0 0 1 0 0 CD14 929 broad.mit.edu 37 5 140012367 140012367 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:140012367G>A ENST00000302014.6 - 2 831 c.202C>T c.(202-204)Ccg>Tcg p.P68S CD14_ENST00000401743.2_Missense_Mutation_p.P68S NM_000591.3 NP_000582.1 P08571 CD14_HUMAN CD14 molecule 68 apoptosis|cellular response to lipopolysaccharide|cellular response to lipoteichoic acid|inflammatory response|innate immune response|phagocytosis|positive regulation of tumor necrosis factor production|Toll signaling pathway anchored to membrane|plasma membrane lipopolysaccharide binding|lipoteichoic acid binding|opsonin receptor activity|peptidoglycan receptor activity endometrium(1)|large_intestine(1)|lung(3)|pancreas(1) 6 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TTTAGAAACGGCTCTAGGTTG 0.632000 23 59 0 0 1 0 0 BEND7 222389 broad.mit.edu 37 10 13523066 13523066 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:13523066G>A ENST00000341083.3 - 6 1036 c.740C>T c.(739-741)tCt>tTt p.S247F BEND7_ENST00000396898.2_Missense_Mutation_p.S312F|BEND7_ENST00000396900.2_Missense_Mutation_p.S299F|BEND7_ENST00000378605.3_Missense_Mutation_p.S260F NM_152751.2 NP_689964.2 Q8N7W2 BEND7_HUMAN BEN domain containing 7 299 protein binding breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(2)|ovary(2)|prostate(1)|stomach(1) 17 TGACAATATAGAGTCCAGCTG 0.403000 35 93 0 0 1 0 0 SEMA6B 10501 broad.mit.edu 37 19 4546239 4546239 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:4546239C>T ENST00000586582.1 - 16 2037 c.1727G>A c.(1726-1728)gGg>gAg p.G576E SEMA6B_ENST00000586965.1_Missense_Mutation_p.G576E|SEMA6B_ENST00000301293.3_Missense_Mutation_p.G576E NM_032108.3 NP_115484.2 Q9H3T3 SEM6B_HUMAN sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6B 576 cell differentiation|nervous system development integral to membrane receptor activity breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18) TGTGCAGTCCCCTAAGCCTGA 0.647000 13 29 0 0 1 0 0 NPY1R 4886 broad.mit.edu 37 4 164247590 164247590 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:164247590C>T ENST00000296533.2 - 2 648 c.117G>A c.(115-117)atG>atA p.M39I NPY1R_ENST00000509586.1_Intron NM_000909.5 NP_000900.1 P25929 NPY1R_HUMAN neuropeptide Y receptor Y1 39 inhibition of adenylate cyclase activity by G-protein signaling pathway|outflow tract morphogenesis integral to plasma membrane protein binding breast(1)|cervix(1)|large_intestine(4)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4) 30 all_hematologic(180;0.166) Prostate(90;0.0959)|all_neural(102;0.223) AGGTAAATATCATGGCCAAGG 0.408000 31 73 0 0 1 0 0 LAMA5 3911 broad.mit.edu 37 20 60902300 60902300 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr20:60902300G>A ENST00000252999.3 - 38 5167 c.5101C>T c.(5101-5103)Ctg>Ttg p.L1701L NM_005560.3 NP_005551.3 O15230 LAMA5_HUMAN laminin, alpha 5 1701 Laminin IV type A. angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex integrin binding breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 81 Breast(26;1.57e-08) BRCA - Breast invasive adenocarcinoma(19;4.36e-06) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) CGGTCCCCCAGGTAGGAGGGT 0.682000 5 13 0 0 1 0 0 USP24 23358 broad.mit.edu 37 1 55538499 55538499 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:55538499G>A ENST00000294383.6 - 65 7561 c.7562C>T c.(7561-7563)tCc>tTc p.S2521F USP24_ENST00000407756.1_Missense_Mutation_p.S2361F|USP24_ENST00000484447.1_5'UTR NM_015306.2 NP_056121.2 Q9UPU5 UBP24_HUMAN ubiquitin specific peptidase 24 2521 ubiquitin-dependent protein catabolic process binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 60 CCAGTGGTGGGAATTCTCCTT 0.418000 3 18 0 0 1 0 0 COL23A1 91522 broad.mit.edu 37 5 177676189 177676189 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:177676189C>T ENST00000390654.3 - 19 1435 c.1078G>A c.(1078-1080)Gga>Aga p.G360R NM_173465.3 NP_775736.2 Q86Y22 CONA1_HUMAN collagen, type XXIII, alpha 1 360 Collagen-like 3.|Gly-rich. collagen|integral to membrane|plasma membrane protein binding breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1) 19 all_cancers(89;0.00188)|Renal(175;0.000159)|Lung NSC(126;0.00814)|all_lung(126;0.0129) all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) OV - Ovarian serous cystadenocarcinoma(192;0.153)|all cancers(165;0.172) CCTGGGTCTCCTTTCTGTCCT 0.617000 7 333 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9072521 9072521 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:9072521G>A ENST00000397910.4 - 3 15128 c.14925C>T c.(14923-14925)acC>acT p.T4975T NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 4977 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 CTGTTTGGGTGGTGATGGTTA 0.498000 34 85 0 0 1 0 0 NDUFV1 4723 broad.mit.edu 37 11 67376071 67376071 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:67376071C>T ENST00000322776.6 + 3 357 c.204C>T c.(202-204)atC>atT p.I68I NDUFV1_ENST00000415352.2_Silent_p.I61I|NDUFV1_ENST00000532303.1_5'UTR|NDUFV1_ENST00000529927.1_Silent_p.I59I NM_001166102.1|NM_007103.3 NP_001159574.1|NP_009034.2 P49821 NDUV1_HUMAN NADH dehydrogenase (ubiquinone) flavoprotein 1, 51kDa 68 mitochondrial electron transport, NADH to ubiquinone|transport mitochondrial respiratory chain complex I 4 iron, 4 sulfur cluster binding|FMN binding|metal ion binding|NAD binding|NADH dehydrogenase (ubiquinone) activity breast(1)|endometrium(3)|large_intestine(2)|lung(7)|prostate(1)|skin(2) 16 NADH(DB00157) CAAAGGAGATCCTGCTGAAGG 0.592000 86 187 0 0 1 0 0 OLIG3 167826 broad.mit.edu 37 6 137814824 137814824 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:137814824C>T ENST00000367734.2 - 1 707 c.484G>A c.(484-486)Ggg>Agg p.G162R NM_175747.2 NP_786923.1 Q7RTU3 OLIG3_HUMAN oligodendrocyte transcription factor 3 162 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1) 11 Breast(32;0.165)|Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00161)|OV - Ovarian serous cystadenocarcinoma(155;0.00447) CCCACGGTCCCGCAGTGAAAG 0.672000 16 47 0 0 1 0 0 OR10H4 126541 broad.mit.edu 37 19 16060278 16060278 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:16060278C>T ENST00000322107.1 + 1 461 c.461C>T c.(460-462)tCa>tTa p.S154L NM_001004465.1 NP_001004465.1 Q8NGA5 O10H4_HUMAN olfactory receptor, family 10, subfamily H, member 4 154 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1) 17 GCTGGTGGCTCAGTCATGGGG 0.512000 61 114 0 0 1 0 0 CEP128 145508 broad.mit.edu 37 14 80993322 80993322 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr14:80993322G>A ENST00000555265.1 - 23 3338 c.2963C>T c.(2962-2964)tCc>tTc p.S988F CEP128_ENST00000281129.3_Missense_Mutation_p.S988F|CEP128_ENST00000553717.1_5'UTR Q6ZU80 CE128_HUMAN centrosomal protein 128kDa 988 centriole|spindle pole NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 51 TGAACTGCAGGAATCCTGGAA 0.363000 22 45 0 0 1 0 0 GOLGA8IP 283796 broad.mit.edu 37 15 23261927 23261927 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr15:23261927G>A ENST00000450802.3 + 12 1137 c.1039G>A c.(1039-1041)Gaa>Aaa p.E347K TCGGGAGCAGGAAGAGAGGCT 0.572000 18 38 0 0 1 0 0 MEP1A 4224 broad.mit.edu 37 6 46793085 46793085 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:46793085G>A ENST00000230588.4 + 8 642 c.633G>A c.(631-633)ttG>ttA p.L211L NM_005588.2 NP_005579.2 Q16819 MEP1A_HUMAN meprin A, alpha (PABA peptide hydrolase) 211 Metalloprotease. digestion|proteolysis extracellular space|integral to plasma membrane|soluble fraction metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 42 Lung(136;0.192) ATGAGTCTTTGATGCACTACC 0.438000 9 127 0 0 1 0 0 LGSN 51557 broad.mit.edu 37 6 63990120 63990120 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:63990120C>T ENST00000370657.4 - 4 1369 c.1336G>A c.(1336-1338)Gac>Aac p.D446N LGSN_ENST00000370658.5_3'UTR Q5TDP6 LGSN_HUMAN lengsin, lens protein with glutamine synthetase domain 446 glutamine biosynthetic process glutamate-ammonia ligase activity NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 L-Glutamic Acid(DB00142) TGGTAAAAGTCTGTGCTCTCA 0.483000 33 83 0 0 1 0 0 ARHGAP29 9411 broad.mit.edu 37 1 94643276 94643276 + Splice_Site SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:94643276C>T ENST00000260526.6 - 22 2979 c.2796_splice c.e22-1 p.D933_splice ARHGAP29_ENST00000482481.1_5'UTR NM_004815.3 NP_004806.3 Q52LW3 RHG29_HUMAN Rho GTPase activating protein 29 933 Rho protein signal transduction cytosol metal ion binding|Rho GTPase activator activity p.D933N(1) NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 54 all_lung(203;0.000732)|Lung NSC(277;0.00328) all cancers(265;0.0187)|Epithelial(280;0.159) GTATGGATATCCTGTTGATGC 0.303000 23 54 0 0 1 0 0 TFDP3 51270 broad.mit.edu 37 X 132351982 132351982 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chrX:132351982C>T ENST00000310125.4 - 1 394 c.306G>A c.(304-306)agG>agA p.R102R NM_016521.2 NP_057605.3 Q5H9I0 TFDP3_HUMAN transcription factor Dp family, member 3 102 transcription factor complex DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(2)|kidney(4)|large_intestine(1)|lung(8)|ovary(1)|prostate(2) 19 Acute lymphoblastic leukemia(192;0.000127) TCTCTCCTTTCCTGTTGTGCT 0.582000 65 34 0 0 1 0 0 MROH2B 133558 broad.mit.edu 37 5 41000823 41000823 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:41000823G>A ENST00000399564.4 - 38 4757 c.4307C>T c.(4306-4308)tCa>tTa p.S1436L MROH2B_ENST00000506092.2_Missense_Mutation_p.S991L NM_173489.4 NP_775760.3 maestro heat-like repeat family member 2B CAGAAGGAATGAAATCAGGCT 0.473000 12 19 0 0 1 0 0 COL4A6 1288 broad.mit.edu 37 X 107423798 107423798 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chrX:107423798C>T ENST00000334504.7 - 25 2311 c.2078G>A c.(2077-2079)gGa>gAa p.G693E COL4A6_ENST00000545689.1_Missense_Mutation_p.G693E|COL4A6_ENST00000538570.1_Missense_Mutation_p.G693E|COL4A6_ENST00000394872.2_Missense_Mutation_p.G694E|COL4A6_ENST00000372216.4_Missense_Mutation_p.G694E NM_033641.2 NP_378667.1 Q14031 CO4A6_HUMAN collagen, type IV, alpha 6 694 Triple-helical region. cell adhesion|extracellular matrix organization collagen type IV extracellular matrix structural constituent|protein binding breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2) 92 TCCTTTACTTCCACTTGACCC 0.522000 Alport syndrome with Diffuse Leiomyomatosis 6 27 0 0 1 0 0 MYH2 4620 broad.mit.edu 37 17 10451089 10451089 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:10451089C>T ENST00000245503.5 - 3 533 c.149G>A c.(148-150)gGg>gAg p.G50E MYH2_ENST00000397183.2_Missense_Mutation_p.G50E|MYH2_ENST00000532183.1_Missense_Mutation_p.G50E|CTC-297N7.7_ENST00000587182.1_RNA NM_017534.5 NP_060004.3 Q9UKX2 MYH2_HUMAN myosin, heavy chain 2, skeletal muscle, adult 50 Myosin head-like. muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4) 176 CTGGATGGTCCCTTTGACAAA 0.493000 64 102 0 0 1 0 0 SAMD9 54809 broad.mit.edu 37 7 92734897 92734897 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:92734897G>A ENST00000379958.2 - 3 783 c.514C>T c.(514-516)Cca>Tca p.P172S NM_001193307.1|NM_017654.3 NP_001180236.1|NP_060124.2 Q5K651 SAMD9_HUMAN sterile alpha motif domain containing 9 172 cytoplasm NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 88 all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125) STAD - Stomach adenocarcinoma(171;0.000302) TAACGATATGGATTACTGAAT 0.363000 68 196 0 0 1 0 0 SIGLEC11 114132 broad.mit.edu 37 19 50463947 50463947 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:50463947C>T ENST00000447370.2 - 2 412 c.322G>A c.(322-324)Gat>Aat p.D108N SIGLEC11_ENST00000426971.2_Missense_Mutation_p.D108N NM_052884.2 NP_443116.2 Q96RL6 SIG11_HUMAN sialic acid binding Ig-like lectin 11 108 Ig-like V-type. cell adhesion integral to membrane sugar binding breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(6)|pancreas(1)|prostate(1)|skin(1) 32 all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17) GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517) TTGCCGGGATCCCCAGTGAGC 0.592000 23 82 0 0 1 0 0 TCEANC2 127428 broad.mit.edu 37 1 54562032 54562032 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:54562032C>T ENST00000234827.1 + 5 713 c.513C>T c.(511-513)taC>taT p.Y171Y TCEANC2_ENST00000498272.1_3'UTR|TCEANC2_ENST00000371331.1_Silent_p.Y201Y NM_153035.1 NP_694580.1 Q96MN5 TEAN2_HUMAN transcription elongation factor A (SII) N-terminal and central domain containing 2 171 TFIIS central. transcription, DNA-dependent nucleus DNA binding kidney(1)|lung(3)|pancreas(1) 5 ATGGGCCGTACCGGCGGACGG 0.498000 12 115 0 0 1 0 0 NIPAL4 348938 broad.mit.edu 37 5 156899412 156899412 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:156899412G>A ENST00000311946.7 + 6 961 c.845G>A c.(844-846)gGg>gAg p.G282E NIPAL4_ENST00000435489.2_Missense_Mutation_p.G263E|ADAM19_ENST00000430702.2_Intron NM_001099287.1 NP_001092757.1 Q0D2K0 NIPA4_HUMAN NIPA-like domain containing 4 282 integral to membrane receptor activity breast(3)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|prostate(1)|skin(1) 22 CCACGTTACGGGCAAAGGAAT 0.512000 OREG0016979 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 97 185 0 0 1 0 0 CLVS2 134829 broad.mit.edu 37 6 123377089 123377089 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:123377089G>A ENST00000275162.4 + 5 2149 c.814G>A c.(814-816)Gat>Aat p.D272N CLVS2_ENST00000368438.1_Missense_Mutation_p.D126N NM_001010852.2 NP_001010852.2 Q5SYC1 CLVS2_HUMAN clavesin 2 272 lysosome organization clathrin-coated vesicle|early endosome membrane|trans-Golgi network phosphatidylinositol-3,5-bisphosphate binding|transporter activity breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2) 40 TGAATATGACGATGACAGCGA 0.483000 24 47 0 0 1 0 0 RPL12P38 645688 broad.mit.edu 37 17 58511325 58511325 + RNA SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:58511325C>T ENST00000588627.1 - 0 2032 CTGGTGGTTCCTTGAGGGCTT 0.483000 15 73 0 0 1 0 0 ATL1 51062 broad.mit.edu 37 14 51054745 51054745 + Silent SNP A A G TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr14:51054745A>G ENST00000441560.2 + 3 712 c.231A>G c.(229-231)agA>agG p.R77R ATL1_ENST00000354525.4_Silent_p.R77R|ATL1_ENST00000358385.6_Silent_p.R77R|ATL1_ENST00000357032.3_Silent_p.R77R NM_001127713.1 NP_001121185.1 Q8WXF7 ATLA1_HUMAN atlastin GTPase 1 77 axonogenesis|cell death|endoplasmic reticulum organization|protein homooligomerization axon|endoplasmic reticulum membrane|Golgi cis cisterna|Golgi membrane|integral to membrane|microsome GTP binding|GTPase activity|identical protein binding central_nervous_system(1)|cervix(2)|large_intestine(4)|liver(1)|lung(6)|ovary(1)|skin(3) 18 GAGCATTTAGAAAAGGAAAAT 0.398000 18 144 0 0 1 0 0 SPTB 6710 broad.mit.edu 37 14 65260554 65260554 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr14:65260554C>T ENST00000389722.3 - 13 1880 c.1827G>A c.(1825-1827)caG>caA p.Q609Q SPTB_ENST00000556626.1_Silent_p.Q609Q|SPTB_ENST00000389720.3_Silent_p.Q609Q|SPTB_ENST00000389721.5_Silent_p.Q609Q|SPTB_ENST00000542895.1_Silent_p.Q609Q NM_001024858.2 NP_001020029.1 P11277 SPTB1_HUMAN spectrin, beta, erythrocytic 609 actin filament capping|axon guidance cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton actin filament binding|structural constituent of cytoskeleton breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3) 106 all_lung(585;4.15e-09) all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628) TGATGCGGTCCTGGATGACCT 0.562000 26 56 0 0 1 0 0 COL5A1 1289 broad.mit.edu 37 9 137713955 137713955 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:137713955C>T ENST00000371817.3 + 59 4981 c.4567C>T c.(4567-4569)Cct>Tct p.P1523S NM_000093.3|NM_001278074.1 NP_000084.3|NP_001265003.1 P20908 CO5A1_HUMAN collagen, type V, alpha 1 1523 Triple-helical region. axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells collagen type V heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 115 Myeloproliferative disorder(178;0.0341) all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131) TATCACTGGTCCTTCTGGCCC 0.632000 5 174 0 0 1 0 0 HOXA9 3205 broad.mit.edu 37 7 27204506 27204506 + Missense_Mutation SNP T T C TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:27204506T>C ENST00000343483.6 - 1 643 c.571A>G c.(571-573)Atc>Gtc p.I191V HOXA9_ENST00000396345.1_3'UTR|RP1-170O19.20_ENST00000465941.1_Intron|RP1-170O19.20_ENST00000470747.4_Missense_Mutation_p.I31V|HOXA9_ENST00000497089.1_Intron NM_152739.3 NP_689952.1 P31269 HXA9_HUMAN homeobox A9 191 protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|endometrium(1)|lung(5)|prostate(1) 8 CTGGGATCGATGGGGGGCTTG 0.592000 T """NUP98, MSI2""" AML* 22 55 0 0 1 0 0 RCOR1 23186 broad.mit.edu 37 14 103180884 103180884 + Missense_Mutation SNP C C T rs77981773 TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr14:103180884C>T ENST00000262241.6 + 8 1209 c.983C>T c.(982-984)tCt>tTt p.S328F RCOR1_ENST00000570597.1_Missense_Mutation_p.S325F NM_015156.3 NP_055971.2 Q9UKL0 RCOR1_HUMAN REST corepressor 1 325 Interaction with KDM1A. blood coagulation|histone H4 deacetylation|interspecies interaction between organisms transcriptional repressor complex protein binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|transcription regulatory region DNA binding NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1) 12 GAGGCTGTTTCTGCCAATGCC 0.418000 33 68 0 0 1 0 0 KIAA1804 84451 broad.mit.edu 37 1 233514873 233514873 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:233514873G>A ENST00000366624.3 + 9 2382 c.2121G>A c.(2119-2121)acG>acA p.T707T MLK4_ENST00000366622.1_Silent_p.T153T NM_032435.2 NP_115811.2 TGACTCCTACGAATAGTCTGA 0.542000 33 90 0 0 1 0 0 SLC39A12 221074 broad.mit.edu 37 10 18289689 18289689 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:18289689C>T ENST00000377369.2 + 11 1967 c.1694C>T c.(1693-1695)tCa>tTa p.S565L SLC39A12_ENST00000377371.3_Missense_Mutation_p.S564L|SLC39A12_ENST00000377374.4_Missense_Mutation_p.S528L|SLC39A12_ENST00000539911.1_Missense_Mutation_p.S431L NM_001145195.1 NP_001138667.1 Q504Y0 S39AC_HUMAN solute carrier family 39 (zinc transporter), member 12 565 Poly-Ser. zinc ion transport integral to membrane metal ion transmembrane transporter activity NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 60 GCCTTCTCATCATCATCCGAG 0.448000 33 69 0 0 1 0 0 PRAMEF22 653606 broad.mit.edu 37 1 13036565 13036565 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:13036565G>A ENST00000376187.1 + 2 637 c.637G>A c.(637-639)Gaa>Aaa p.E213K PRAMEF6_ENST00000376192.5_Intron NM_001100631.1 NP_001094101.1 A3QJZ6 PRA22_HUMAN PRAME family member 22 213 kidney(1)|large_intestine(2)|lung(1)|skin(1) 5 CCAAGTGTTGGAAATTTGGAA 0.423000 73 206 0 0 1 0 0 OR8B12 219858 broad.mit.edu 37 11 124412918 124412918 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:124412918G>A ENST00000306842.2 - 1 657 c.633C>T c.(631-633)gtC>gtT p.V211V NM_001005195.1 NP_001005195.1 Q8NGG6 OR8BC_HUMAN olfactory receptor, family 8, subfamily B, member 12 211 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0213) TAAAGACAGTGACAATGGGCA 0.463000 16 15 0 0 1 0 0 PALLD 23022 broad.mit.edu 37 4 169589344 169589344 + Nonsense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:169589344G>A ENST00000261509.6 + 3 1123 c.912G>A c.(910-912)tgG>tgA p.W304* PALLD_ENST00000505667.1_Nonsense_Mutation_p.W304*|PALLD_ENST00000333488.4_Nonsense_Mutation_p.W181*|PALLD_ENST00000512127.1_5'UTR|PALLD_ENST00000335742.7_5'UTR NM_001166108.1|NM_016081.3 NP_001159580.1|NP_057165.3 Q8WX93 PALLD_HUMAN palladin, cytoskeletal associated protein 304 Ig-like C2-type 1. cytoskeleton organization actin filament|focal adhesion|lamellipodium|nucleus|ruffle|sarcomere actin binding|muscle alpha-actinin binding breast(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(18)|ovary(3)|prostate(3)|skin(4) 48 Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144) GBM - Glioblastoma multiforme(119;0.204) CCTGCAGATGGTTCTGTGAAG 0.463000 Pancreatic Cancer, Familial Clustering of 48 82 0 0 1 0 0 MAEL 84944 broad.mit.edu 37 1 166959054 166959054 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:166959054C>T ENST00000367872.4 + 2 457 c.213C>T c.(211-213)ccC>ccT p.P71P MAEL_ENST00000367870.2_Intron NM_032858.1 NP_116247.1 Q96JY0 MAEL_HUMAN maelstrom spermatogenic transposon silencer 71 cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|multicellular organismal development|piRNA metabolic process|spermatogenesis piP-body DNA binding breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(12)|skin(4) 28 ACCCTGGGCCCTCAGAGAAGC 0.512000 9 28 0 0 1 0 0 PPP1R16B 26051 broad.mit.edu 37 20 37546833 37546833 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr20:37546833G>A ENST00000299824.1 + 11 1417 c.1228G>A c.(1228-1230)Gaa>Aaa p.E410K PPP1R16B_ENST00000373331.2_Missense_Mutation_p.E368K NM_015568.2 NP_056383.1 Q96T49 PP16B_HUMAN protein phosphatase 1, regulatory subunit 16B 410 regulation of filopodium assembly|signal transduction nucleus|plasma membrane protein phosphatase binding p.E410K(2) biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(23)|prostate(2)|skin(4)|upper_aerodigestive_tract(2) 49 Myeloproliferative disorder(115;0.00878) GCTACTCTCCGAATTTCCTAC 0.567000 115 223 0 0 1 0 0 TRBV5-6 28609 broad.mit.edu 37 7 142131459 142131459 + RNA SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:142131459G>A ENST00000390375.2 - 0 336 CAGCAACAAGGCGTTCACATT 0.498000 47 212 0 0 1 0 0 SLCO4C1 353189 broad.mit.edu 37 5 101574998 101574998 + Nonsense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:101574998C>T ENST00000310954.6 - 12 2257 c.1971G>A c.(1969-1971)tgG>tgA p.W657* NM_180991.4 NP_851322.3 Q6ZQN7 SO4C1_HUMAN solute carrier organic anion transporter family, member 4C1 657 cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis basolateral plasma membrane|integral to membrane sodium-independent organic anion transmembrane transporter activity breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5) 50 all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486) Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986) TATCATAAATCCAGCAAGCTC 0.323000 6 74 0 0 1 0 0 MTM1 4534 broad.mit.edu 37 X 149767114 149767114 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chrX:149767114C>T ENST00000370396.2 + 4 249 c.195C>T c.(193-195)atC>atT p.I65I MTM1_ENST00000413012.2_Silent_p.I65I|MTM1_ENST00000542741.1_Intron|MTM1_ENST00000306167.7_3'UTR|MTM1_ENST00000543350.1_Intron NM_000252.2 NP_000243.1 Q13496 MTM1_HUMAN myotubularin 1 65 GRAM. endosome to lysosome transport|intermediate filament organization|mitochondrion distribution|mitochondrion morphogenesis|phosphatidylinositol dephosphorylation|protein transport|regulation of vacuole organization filopodium|late endosome|plasma membrane|ruffle intermediate filament binding|phosphatidylinositol binding|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 Acute lymphoblastic leukemia(192;6.56e-05) GAGTTTACATCACAAATTATC 0.294000 32 15 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179613870 179613870 + Silent SNP T T C TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:179613870T>C ENST00000360870.5 - 46 13479 c.13257A>G c.(13255-13257)ttA>ttG p.L4419L TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Intron|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000578746.1_RNA NM_133379.3 NP_596870.2 Q8WZ42 TITIN_HUMAN titin 547 Ig-like 24. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GAATATTTGGTAAATAGTCAC 0.338000 32 47 0 0 1 0 0 CDH6 1004 broad.mit.edu 37 5 31317540 31317540 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:31317540C>T ENST00000265071.2 + 10 1836 c.1571C>T c.(1570-1572)tCg>tTg p.S524L CDH6_ENST00000514738.1_Missense_Mutation_p.S469L NM_004932.3 NP_004923.1 P55285 CADH6_HUMAN cadherin 6, type 2, K-cadherin (fetal kidney) 524 Cadherin 5. adherens junction organization|cell junction assembly|homophilic cell adhesion cytoplasm|integral to membrane|nucleus|plasma membrane calcium ion binding NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 77 CACCAATTTTCGTTTTCCTTG 0.403000 64 93 0 0 1 0 0 MYOF 26509 broad.mit.edu 37 10 95111508 95111508 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:95111508C>T ENST00000371501.4 - 33 3699 c.3577G>A c.(3577-3579)Gat>Aat p.D1193N MYOF_ENST00000359263.4_Missense_Mutation_p.D1193N|MYOF_ENST00000358334.5_Missense_Mutation_p.D1180N|MYOF_ENST00000371502.4_Missense_Mutation_p.D1193N Q9NZM1 MYOF_HUMAN myoferlin 1193 C2 4. blood circulation|muscle contraction|plasma membrane repair caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane phospholipid binding|protein binding NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 67 TCAACTTCATCGAATATAATT 0.413000 41 80 0 0 1 0 0 PTGR1 22949 broad.mit.edu 37 9 114332461 114332461 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:114332461C>T ENST00000407693.2 - 9 1051 c.789G>A c.(787-789)caG>caA p.Q263Q PTGR1_ENST00000538962.1_Silent_p.Q263Q|ZNF483_ENST00000358151.4_Intron|PTGR1_ENST00000309195.5_Silent_p.Q263Q|PTGR1_ENST00000238248.3_Silent_p.Q140Q NM_001146108.1 NP_001139580.1 Q14914 PTGR1_HUMAN prostaglandin reductase 1 263 leukotriene metabolic process cytoplasm 15-oxoprostaglandin 13-oxidase activity|2-alkenal reductase activity|alcohol dehydrogenase (NAD) activity|zinc ion binding endometrium(2)|large_intestine(5)|lung(3)|ovary(1) 11 TGCGAAGCTCCTGATAGATAA 0.532000 19 38 0 0 1 0 0 FAM196A 642938 broad.mit.edu 37 10 128974334 128974334 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:128974334G>A ENST00000522781.1 - 4 881 c.326C>T c.(325-327)cCc>cTc p.P109L DOCK1_ENST00000280333.6_Intron|FAM196A_ENST00000424811.2_Missense_Mutation_p.P109L NM_001039762.2 NP_001034851.1 Q6ZSG2 F196A_HUMAN family with sequence similarity 196, member A 109 breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 30 CTTAAGGTCGGGCGAGGTCTG 0.562000 24 52 0 0 1 0 0 MYL1 4632 broad.mit.edu 37 2 211159126 211159126 + Missense_Mutation SNP T T A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:211159126T>A ENST00000352451.3 - 4 468 c.321A>T c.(319-321)aaA>aaT p.K107N MYL1_ENST00000496436.1_5'UTR|MYL1_ENST00000341685.4_Missense_Mutation_p.K63N NM_079420.2 NP_524144.1 P05976 MYL1_HUMAN myosin, light chain 1, alkali; skeletal, fast 107 muscle filament sliding|muscle organ development cytosol|muscle myosin complex|sarcomere calcium ion binding|structural constituent of muscle breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(1) 16 Epithelial(149;0.00573)|Lung(261;0.0422)|LUSC - Lung squamous cell carcinoma(261;0.0444)|all cancers(144;0.057) CAAACTCAATTTTCTTGGCAT 0.378000 43 58 0 0 1 0 0 PANK4 55229 broad.mit.edu 37 1 2452297 2452297 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:2452297G>A ENST00000378466.3 - 4 483 c.471C>T c.(469-471)ttC>ttT p.F157F PANK4_ENST00000435556.3_Intron NM_018216.1 NP_060686.1 Q9NVE7 PANK4_HUMAN pantothenate kinase 4 157 coenzyme A biosynthetic process cytoplasm ATP binding|pantothenate kinase activity breast(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4) 23 all_cancers(77;0.000158)|all_epithelial(69;8.01e-05)|all_lung(157;0.0212)|Lung NSC(156;0.0376)|Ovarian(185;0.0634) all_epithelial(116;3.18e-20)|all_lung(118;1.67e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123) Epithelial(90;1.54e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.95e-23)|GBM - Glioblastoma multiforme(42;2.81e-08)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.00445)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201) TCTTGAGCACGAAGTTGCACC 0.542000 29 61 0 0 1 0 0 STAB2 55576 broad.mit.edu 37 12 104126924 104126924 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:104126924G>A ENST00000388887.2 + 51 5628 c.5424G>A c.(5422-5424)aaG>aaA p.K1808K NM_017564.9 NP_060034.9 Q8WWQ8 STAB2_HUMAN stabilin 2 1808 FAS1 6. angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis cytoplasm|external side of plasma membrane|integral to plasma membrane Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2) 174 ACAAGCTGAAGGAGTATTTGA 0.478000 5 172 0 0 1 0 0 CEACAM5 1048 broad.mit.edu 37 19 42218994 42218994 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:42218994C>T ENST00000221992.6 + 3 643 c.529C>T c.(529-531)Ctg>Ttg p.L177L CEACAM5_ENST00000405816.1_Silent_p.L177L|CEACAM5_ENST00000398599.4_Silent_p.L177L|CEA_ENST00000598976.1_Intron NM_004363.2 NP_004354.2 P06731 CEAM5_HUMAN carcinoembryonic antigen-related cell adhesion molecule 5 177 Ig-like 2. anchored to membrane|basolateral plasma membrane|integral to plasma membrane breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1) 34 OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142) CGCAACCTACCTGTGGTGGGT 0.552000 82 221 0 0 1 0 0 LAMB3 3914 broad.mit.edu 37 1 209823371 209823371 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:209823371G>A ENST00000391911.1 - 2 510 c.121C>T c.(121-123)Ctc>Ttc p.L41F LAMB3_ENST00000356082.4_Missense_Mutation_p.L41F|LAMB3_ENST00000367030.3_Missense_Mutation_p.L41F NM_001017402.1 NP_001017402.1 Q13751 LAMB3_HUMAN laminin, beta 3 41 Laminin N-terminal. cell adhesion|epidermis development|hemidesmosome assembly structural molecule activity NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 OV - Ovarian serous cystadenocarcinoma(81;0.0519) GAAGCTCGGAGAAACCGGGTC 0.612000 56 64 0 0 1 0 0 BPGM 669 broad.mit.edu 37 7 134363754 134363754 + Nonsense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:134363754C>T ENST00000393132.2 + 4 1240 c.751C>T c.(751-753)Caa>Taa p.Q251* BPGM_ENST00000344924.3_Nonsense_Mutation_p.Q251*|BPGM_ENST00000418040.1_Nonsense_Mutation_p.Q251* NM_199186.2 NP_954655.1 P07738 PMGE_HUMAN 2,3-bisphosphoglycerate mutase 251 glycolysis|respiratory gaseous exchange 2,3-bisphospho-D-glycerate 2-phosphohydrolase activity|bisphosphoglycerate mutase activity|phosphoglycerate mutase activity breast(1)|endometrium(1)|lung(2)|stomach(1) 5 AGTAGAAGATCAAGGAAAAGT 0.433000 34 138 0 0 1 0 0 PEX10 5192 broad.mit.edu 37 1 2338178 2338178 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:2338178G>A ENST00000288774.3 - 4 844 c.817C>T c.(817-819)Cgc>Tgc p.R273C PEX10_ENST00000507596.1_Missense_Mutation_p.R253C|PEX10_ENST00000447513.2_Missense_Mutation_p.R253C NM_153818.1 NP_722540.1 O60683 PEX10_HUMAN peroxisomal biogenesis factor 10 253 protein import into peroxisome matrix integral to peroxisomal membrane|peroxisomal membrane protein binding|protein C-terminus binding|zinc ion binding central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|skin(2) 7 all_cancers(77;0.000247)|all_epithelial(69;9.96e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634) all_epithelial(116;5.35e-20)|all_lung(118;2.78e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128) Epithelial(90;1.1e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.02e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00102)|BRCA - Breast invasive adenocarcinoma(365;0.00435)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0169)|Lung(427;0.199) GACAGGCCGCGGTGCAGCCTC 0.667000 7 20 0 0 1 0 0 GRHL2 79977 broad.mit.edu 37 8 102555548 102555548 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:102555548G>A ENST00000251808.3 + 2 438 c.100G>A c.(100-102)Gaa>Aaa p.E34K GRHL2_ENST00000395927.1_Missense_Mutation_p.E18K NM_024915.3 NP_079191.2 Q6ISB3 GRHL2_HUMAN grainyhead-like 2 (Drosophila) 34 Transcription activation. cytoplasm|nucleus DNA binding breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 all_cancers(14;4.39e-08)|all_epithelial(15;4.09e-10)|Lung NSC(17;7.11e-06)|all_lung(17;1.44e-05) Epithelial(11;5.81e-09)|all cancers(13;3.81e-07)|OV - Ovarian serous cystadenocarcinoma(57;0.000213) CAGTGAGGATGAAGCCTGGAA 0.502000 72 118 0 0 1 0 0 PLCXD3 345557 broad.mit.edu 37 5 41382524 41382524 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:41382524G>A ENST00000377801.3 - 2 290 c.216C>T c.(214-216)ctC>ctT p.L72L PLCXD3_ENST00000328457.3_Silent_p.L72L Q63HM9 PLCX3_HUMAN phosphatidylinositol-specific phospholipase C, X domain containing 3 72 PI-PLC X-box. intracellular signal transduction|lipid catabolic process phospholipase C activity|signal transducer activity central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 37 ATTTCCGCATGAGCTTTTTGG 0.463000 42 119 0 0 1 0 0 CDH6 1004 broad.mit.edu 37 5 31294270 31294270 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:31294270G>A ENST00000265071.2 + 3 695 c.430G>A c.(430-432)Gaa>Aaa p.E144K CDH6_ENST00000514738.1_Missense_Mutation_p.E89K NM_004932.3 NP_004923.1 P55285 CADH6_HUMAN cadherin 6, type 2, K-cadherin (fetal kidney) 144 Cadherin 1. adherens junction organization|cell junction assembly|homophilic cell adhesion cytoplasm|integral to membrane|nucleus|plasma membrane calcium ion binding NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 77 GCCCGAGTCTGAATTCATCAT 0.483000 95 176 0 0 1 0 0 PCDHGA12 26025 broad.mit.edu 37 5 140812028 140812028 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:140812028C>T ENST00000252085.3 + 1 1844 c.1702C>T c.(1702-1704)Ccc>Tcc p.P568S PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGB6_ENST00000520790.1_Intron NM_003735.2|NM_032094.1 NP_003726.1|NP_115265.1 breast(2)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(23)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1) 58 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CCCCGCCCTCCCCACGGACGG 0.677000 111 221 0 0 1 0 0 COL4A5 1287 broad.mit.edu 37 X 107911653 107911653 + Missense_Mutation SNP C C T rs104886393 TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chrX:107911653C>T ENST00000328300.6 + 41 3953 c.3709C>T c.(3709-3711)Cca>Tca p.P1237S COL4A5_ENST00000361603.2_Missense_Mutation_p.P1237S NM_033380.2 NP_203699.1 P29400 CO4A5_HUMAN collagen, type IV, alpha 5 1237 Triple-helical region. axon guidance collagen type IV extracellular matrix structural constituent|protein binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 99 GCAGGGTCCCCCAGGCCCTCC 0.602000 Alport syndrome with Diffuse Leiomyomatosis 11 10 0 0 1 0 0 LRPAP1 4043 broad.mit.edu 37 4 3519786 3519786 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:3519786G>A ENST00000500728.2 - 5 872 c.726C>T c.(724-726)agC>agT p.S242S LRPAP1_ENST00000296325.5_5'UTR NM_002337.3 NP_002328.1 P30533 AMRP_HUMAN low density lipoprotein receptor-related protein associated protein 1 242 LDL receptor binding (Potential). negative regulation of protein binding|negative regulation of very-low-density lipoprotein particle clearance|protein folding|vesicle-mediated transport cell surface|integral to membrane|plasma membrane asialoglycoprotein receptor activity|heparin binding|low-density lipoprotein particle receptor binding|receptor antagonist activity|unfolded protein binding|very-low-density lipoprotein particle receptor binding breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(2) 14 UCEC - Uterine corpus endometrioid carcinoma (64;0.165) AGCCCTGGTGGCTGACCCTGC 0.652000 25 40 0 0 1 0 0 DNAH11 8701 broad.mit.edu 37 7 21646079 21646079 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:21646079C>T ENST00000328843.6 + 19 3715 c.3684C>T c.(3682-3684)atC>atT p.I1228I DNAH11_ENST00000409508.3_Silent_p.I1228I Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 1228 Stem (By similarity). microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 230 CCAAAAAGATCGCAGCAACTG 0.373000 Kartagener syndrome 6 29 0 0 1 0 0 ZNF423 23090 broad.mit.edu 37 16 49557594 49557594 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr16:49557594C>T ENST00000561648.1 - 7 3819 c.3766G>A c.(3766-3768)Gac>Aac p.D1256N ZNF423_ENST00000562520.1_Missense_Mutation_p.D1196N|ZNF423_ENST00000535559.1_Missense_Mutation_p.D1139N|ZNF423_ENST00000567169.1_Missense_Mutation_p.D1139N|ZNF423_ENST00000562871.1_Missense_Mutation_p.D1196N|ZNF423_ENST00000262383.2_Missense_Mutation_p.D1256N|ZNF423_ENST00000563137.2_Missense_Mutation_p.D1196N NM_001271620.1 NP_001258549.1 Q2M1K9 ZN423_HUMAN zinc finger protein 423 1256 cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2) 89 all_cancers(37;0.0155) TAGATCTTGTCCTCCTGCCCG 0.602000 23 17 0 0 1 0 0 STAG3 10734 broad.mit.edu 37 7 99795762 99795762 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:99795762C>T ENST00000426455.1 + 12 1624 c.1217C>T c.(1216-1218)gCt>gTt p.A406V STAG3_ENST00000317296.5_Missense_Mutation_p.A406V|STAG3_ENST00000440830.1_3'UTR|STAG3_ENST00000394018.2_Missense_Mutation_p.A348V Q9UJ98 STAG3_HUMAN stromal antigen 3 406 chromosome segregation|synaptonemal complex assembly chromosome, centromeric region|meiotic cohesin complex|synaptonemal complex binding breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(11)|lung(30)|ovary(5)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 66 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) GCAGTGGAGGCTGTCAGATTA 0.498000 60 107 0 0 1 0 0 SCN10A 6336 broad.mit.edu 37 3 38739168 38739168 + Nonsense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:38739168C>T ENST00000449082.2 - 27 5542 c.5543G>A c.(5542-5544)tGg>tAg p.W1848* NM_006514.2 NP_006505.2 Q9Y5Y9 SCNAA_HUMAN sodium channel, voltage-gated, type X, alpha subunit 1848 sensory perception voltage-gated sodium channel complex NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 150 KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945) Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296) TTCTTGCTTCCATCGGAGAGT 0.473000 44 103 0 0 1 0 0 PTPN21 11099 broad.mit.edu 37 14 88936057 88936057 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr14:88936057G>A ENST00000556564.1 - 17 3305 c.3021C>T c.(3019-3021)agC>agT p.S1007S PTPN21_ENST00000328736.3_Silent_p.S1007S NM_007039.3 NP_008970.2 Q16825 PTN21_HUMAN protein tyrosine phosphatase, non-receptor type 21 1007 Tyrosine-protein phosphatase. cytoplasm|cytoskeleton binding|protein tyrosine phosphatase activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|liver(1)|lung(7)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 AGTACCTAAAGCTCTTCTCCC 0.507000 22 53 0 0 1 0 0 POLR1A 25885 broad.mit.edu 37 2 86308771 86308771 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:86308771G>A ENST00000263857.6 - 8 1254 c.876C>T c.(874-876)ttC>ttT p.F292F POLR1A_ENST00000409681.1_Silent_p.F292F O95602 RPA1_HUMAN polymerase (RNA) I polypeptide A, 194kDa 292 termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter DNA-directed RNA polymerase I complex|nucleoplasm DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 63 CACTGGGATTGAATCTGGATT 0.378000 20 29 0 0 1 0 0 CHGB 1114 broad.mit.edu 37 20 5904080 5904080 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr20:5904080C>T ENST00000378961.4 + 4 1494 c.1290C>T c.(1288-1290)ttC>ttT p.F430F NM_001819.2 NP_001810.2 P05060 SCG1_HUMAN chromogranin B (secretogranin 1) 430 extracellular region hormone activity breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1) 47 GTGCCTATTTCATGTCTGACA 0.547000 60 97 0 0 1 0 0 PCDHB14 56122 broad.mit.edu 37 5 140605469 140605469 + Nonsense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:140605469C>T ENST00000239449.4 + 1 2392 c.2392C>T c.(2392-2394)Caa>Taa p.Q798* PCDHB14_ENST00000515856.2_Nonsense_Mutation_p.Q645* NM_018934.2 NP_061757.1 Q9Y5E9 PCDBE_HUMAN 798 calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1) 49 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) ACTTAACATTCAATAAAACAA 0.333000 29 71 0 0 1 0 0 GRIK5 2901 broad.mit.edu 37 19 42563506 42563506 + Missense_Mutation SNP G G A rs141012226 TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:42563506G>A ENST00000262895.3 - 5 681 c.682C>T c.(682-684)Cgt>Tgt p.R228C GRIK5_ENST00000593562.1_Missense_Mutation_p.R228C|GRIK5_ENST00000301218.4_Missense_Mutation_p.R228C NM_002088.4 NP_002079.3 Q16478 GRIK5_HUMAN glutamate receptor, ionotropic, kainate 5 228 cell junction|postsynaptic membrane extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 35 Prostate(69;0.059) L-Glutamic Acid(DB00142) CTCACCTTACGGAGGATGAGG 0.587000 32 69 0 0 1 0 0 SLC47A2 146802 broad.mit.edu 37 17 19607383 19607383 + Splice_Site SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:19607383C>T ENST00000350657.5 - 12 1234 c.1060_splice c.e12+1 p.V354_splice SLC47A2_ENST00000463318.1_5'UTR|SLC47A2_ENST00000325411.5_Splice_Site_p.V376_splice NM_001099646.1|NM_001256663.1 NP_001093116.1|NP_001243592.1 Q86VL8 S47A2_HUMAN solute carrier family 47 (multidrug and toxin extrusion), member 2 376 integral to membrane|plasma membrane drug:hydrogen antiporter activity endometrium(2)|kidney(3)|large_intestine(2)|lung(1)|ovary(1) 9 all_cancers(12;2.3e-05)|all_epithelial(12;0.0024)|Breast(13;0.245) CTCCACCTACCTATGCTGAGC 0.672000 12 21 0 0 1 0 0 DOCK1 1793 broad.mit.edu 37 10 128841336 128841336 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:128841336C>T ENST00000280333.6 + 21 2155 c.2046C>T c.(2044-2046)atC>atT p.I682I NM_001380.3 NP_001371.1 Q14185 DOCK1_HUMAN dedicator of cytokinesis 1 682 apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction cytosol|membrane GTP binding|GTPase activator activity|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 72 all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14) BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115) AGGTATTTATCATTGGACTGA 0.323000 8 18 0 0 1 0 0 OR52E2 119678 broad.mit.edu 37 11 5080058 5080058 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:5080058C>T ENST00000321522.2 - 1 799 c.800G>A c.(799-801)cGa>cAa p.R267Q NM_001005164.2 NP_001005164.2 Q8NGJ4 O52E2_HUMAN olfactory receptor, family 52, subfamily E, member 2 267 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|lung(13)|ovary(2)|skin(3) 20 Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086) Epithelial(150;1.03e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.191) GGGCACATTTCGGCCAAAGCG 0.478000 16 20 0 0 1 0 0 TRPV5 56302 broad.mit.edu 37 7 142606700 142606700 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:142606700C>T ENST00000265310.1 - 14 2199 c.1851G>A c.(1849-1851)ggG>ggA p.G617G NM_019841.4 NP_062815.2 Q9NQA5 TRPV5_HUMAN transient receptor potential cation channel, subfamily V, member 5 617 protein tetramerization apical plasma membrane|integral to plasma membrane calcium channel activity NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 67 Melanoma(164;0.059) ACCCACAGATCCCGGAGCGAG 0.592000 44 65 0 0 1 0 0 GRIA1 2890 broad.mit.edu 37 5 153035400 153035400 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:153035400G>A ENST00000285900.5 + 5 1010 c.667G>A c.(667-669)Ggc>Agc p.G223S GRIA1_ENST00000521843.2_Missense_Mutation_p.G154S|GRIA1_ENST00000448073.4_Missense_Mutation_p.G233S|GRIA1_ENST00000518783.1_Missense_Mutation_p.G233S|GRIA1_ENST00000340592.5_Missense_Mutation_p.G223S|GRIA1_ENST00000518142.1_Missense_Mutation_p.G143S NM_000827.3|NM_001258019.1 NP_000818.2|NP_001244948.1 P42261 GRIA1_HUMAN glutamate receptor, ionotropic, AMPA 1 223 synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 81 Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21) Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785) Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236) AGAGAAGAATGGCATCGGCTA 0.438000 45 92 0 0 1 0 0 IL37 27178 broad.mit.edu 37 2 113676334 113676334 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:113676334C>T ENST00000263326.3 + 5 647 c.605C>T c.(604-606)tCa>tTa p.S202L IL37_ENST00000311328.2_Missense_Mutation_p.S176L|IL37_ENST00000353225.3_Missense_Mutation_p.S162L|IL37_ENST00000352179.3_Missense_Mutation_p.S181L|IL37_ENST00000349806.3_Missense_Mutation_p.S141L NM_014439.3 NP_055254.2 Q9NZH6 IL37_HUMAN interleukin 37 202 immune response cytosol|extracellular space|nucleus cytokine activity|interleukin-1 receptor antagonist activity|interleukin-1 receptor binding NS(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(7)|ovary(2)|skin(3) 19 ATTGAATTTTCATTTCAACCA 0.458000 33 49 0 0 1 0 0 KRT222 125113 broad.mit.edu 37 17 38812783 38812783 + Silent SNP A A C TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:38812783A>C ENST00000476049.1 - 6 800 c.759T>G c.(757-759)ctT>ctG p.L253L KRT222_ENST00000394052.3_Silent_p.L253L Q8N1A0 KT222_HUMAN keratin 222 253 intermediate filament structural molecule activity breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|prostate(2)|skin(1) 15 CTGCTAAATGAAGATCAAATC 0.383000 4 123 0 0 1 0 0 LUZP2 338645 broad.mit.edu 37 11 24784837 24784837 + Nonsense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:24784837C>T ENST00000533227.1 + 5 408 c.121C>T c.(121-123)Cga>Tga p.R41* LUZP2_ENST00000336930.6_Nonsense_Mutation_p.R127*|LUZP2_ENST00000531187.1_3'UTR NM_001009909.3|NM_001252008.1 NP_001009909.2|NP_001238937.1 Q86TE4 LUZP2_HUMAN leucine zipper protein 2 127 extracellular region central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(11)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 32 CAAAATGATCCGAGACCTCCA 0.294000 17 24 0 0 1 0 0 JAKMIP2 9832 broad.mit.edu 37 5 147011072 147011072 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:147011072C>T ENST00000265272.5 - 14 2246 c.1779G>A c.(1777-1779)gaG>gaA p.E593E JAKMIP2_ENST00000333010.6_Silent_p.E551E|JAKMIP2_ENST00000507386.1_Silent_p.E572E NM_014790.3 NP_055605.2 Q96AA8 JKIP2_HUMAN janus kinase and microtubule interacting protein 2 593 Golgi apparatus NS(1)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(22)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2) 64 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GTCTCTCTCTCTCCTTGAAAC 0.363000 28 50 0 0 1 0 0 HSP90AA1 3320 broad.mit.edu 37 14 102568305 102568305 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr14:102568305G>A ENST00000334701.7 - 2 554 c.273C>T c.(271-273)ttC>ttT p.F91F HSP90AA1_ENST00000558600.1_5'UTR NM_001017963.2 NP_001017963.2 P07900 HS90A_HUMAN heat shock protein 90kDa alpha (cytosolic), class A member 1 0 axon guidance|cellular chaperone-mediated protein complex assembly|G2/M transition of mitotic cell cycle|nitric oxide metabolic process|positive regulation of nitric oxide biosynthetic process|protein import into mitochondrial outer membrane|protein refolding|regulation of nitric-oxide synthase activity|response to unfolded protein|signal transduction cytosol|melanosome|plasma membrane ATP binding|ATPase activity|nitric-oxide synthase regulator activity|protein homodimerization activity|TPR domain binding|unfolded protein binding breast(1)|central_nervous_system(2)|endometrium(2)|kidney(6)|large_intestine(3)|liver(1)|lung(10)|ovary(2)|prostate(1) 28 Rifabutin(DB00615) CGGTGACAGGGAATGCAGAGA 0.522000 7 153 0 0 1 0 0 KRT79 338785 broad.mit.edu 37 12 53227667 53227667 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:53227667G>A ENST00000330553.5 - 1 412 c.378C>T c.(376-378)ccC>ccT p.P126P NM_175834.2 NP_787028.1 Q5XKE5 K2C79_HUMAN keratin 79 126 Head. keratin filament structural molecule activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 CCACATGGAGGGGGGTCAGCA 0.607000 51 119 0 0 1 0 0 ARHGEF15 22899 broad.mit.edu 37 17 8216364 8216364 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:8216364C>T ENST00000361926.3 + 3 836 c.726C>T c.(724-726)tcC>tcT p.S242S ARHGEF15_ENST00000421050.1_Silent_p.S242S NM_173728.3 NP_776089.2 O94989 ARHGF_HUMAN Rho guanine nucleotide exchange factor (GEF) 15 242 negative regulation of synapse maturation|regulation of Rho protein signal transduction dendrite|intracellular GTPase activator activity|Rho guanyl-nucleotide exchange factor activity breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1) 37 GTCGGGCCTCCCCGCTGCGGA 0.697000 65 131 0 0 1 0 0 ZNF727 442319 broad.mit.edu 37 7 63538511 63538511 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:63538511C>T ENST00000550760.3 + 4 1263 c.1084C>T c.(1084-1086)Cat>Tat p.H362Y NM_001159522.1 NP_001152994.1 A8MUV8 ZN727_HUMAN zinc finger protein 727 362 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|kidney(2)|skin(1)|stomach(1)|urinary_tract(1) 8 CAAGAGAATTCATATGGAATT 0.388000 6 19 0 0 1 0 0 KYNU 8942 broad.mit.edu 37 2 143787215 143787215 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:143787215C>T ENST00000264170.4 + 11 1180 c.922C>T c.(922-924)Cat>Tat p.H308Y KYNU_ENST00000409512.1_Missense_Mutation_p.H308Y NM_003937.2 NP_003928.1 Q16719 KYNU_HUMAN kynureninase 308 anthranilate metabolic process|NAD biosynthetic process|quinolinate biosynthetic process|response to interferon-gamma|response to vitamin B6 cytosol|mitochondrion|soluble fraction kynureninase activity|protein homodimerization activity large_intestine(10)|liver(1)|lung(18)|prostate(3)|skin(4) 36 BRCA - Breast invasive adenocarcinoma(221;0.072) L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114) ATGGTTTGGCCATGAACTCAG 0.348000 11 87 0 0 1 0 0 DGKD 8527 broad.mit.edu 37 2 234358761 234358761 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:234358761G>A ENST00000264057.2 + 16 2034 c.2022G>A c.(2020-2022)ggG>ggA p.G674G DGKD_ENST00000409813.3_Silent_p.G630G NM_152879.2 NP_690618.2 Q16760 DGKD_HUMAN diacylglycerol kinase, delta 130kDa 674 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell growth|diacylglycerol metabolic process|endocytosis|epidermal growth factor receptor signaling pathway|multicellular organismal development|platelet activation|protein homooligomerization|protein transport|response to organic substance|second-messenger-mediated signaling cytoplasm|cytoplasmic membrane-bounded vesicle|plasma membrane ATP binding|diacylglycerol binding|diacylglycerol kinase activity|metal ion binding|protein heterodimerization activity|protein homodimerization activity central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(13)|lung(15)|ovary(1)|pancreas(1)|skin(1) 38 Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538) Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655) Phosphatidylserine(DB00144) TCCCCAAGGGGAGGAGCCAGC 0.617000 26 36 0 0 1 0 0 TRAV9-1 28678 broad.mit.edu 37 14 22280085 22280085 + RNA SNP T T C TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr14:22280085T>C ENST00000390431.3 + 0 274 AACCACTTCTTTCCACTTGGA 0.498000 14 58 0 0 1 0 0 C12orf61 283416 broad.mit.edu 37 12 62996809 62996809 + Missense_Mutation SNP G G T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:62996809G>T ENST00000408887.2 - 1 405 c.310C>A c.(310-312)Ccc>Acc p.P104T RP11-631N16.2_ENST00000550290.1_RNA NM_175895.3 NP_787091.1 Q8N7H1 CL061_HUMAN chromosome 12 open reading frame 61 104 cervix(1)|lung(2) 3 BRCA - Breast invasive adenocarcinoma(9;0.0399) GBM - Glioblastoma multiforme(28;0.134) GGTGGCCTGGGGACTTCCCGG 0.662000 13 33 1.05317e-09 1.05911e-09 1 1 0 EMILIN1 11117 broad.mit.edu 37 2 27306173 27306173 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:27306173G>A ENST00000380320.4 + 4 2233 c.1734G>A c.(1732-1734)ggG>ggA p.G578G NM_007046.3 NP_008977.1 Q9Y6C2 EMIL1_HUMAN elastin microfibril interfacer 1 578 cell adhesion collagen breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(1)|lung(14)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1) 26 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) AGGCCCATGGGGATGAGGGCT 0.657000 26 71 0 0 1 0 0 SCN2A 6326 broad.mit.edu 37 2 166210722 166210722 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:166210722C>T ENST00000375437.2 + 17 3230 c.2940C>T c.(2938-2940)gcC>gcT p.A980A SCN2A_ENST00000375427.2_Silent_p.A980A|SCN2A_ENST00000357398.3_Silent_p.A980A|SCN2A_ENST00000283256.6_Silent_p.A980A NM_001040142.1 NP_001035232.1 Q99250 SCN2A_HUMAN sodium channel, voltage-gated, type II, alpha subunit 980 myelination node of Ranvier|voltage-gated sodium channel complex voltage-gated sodium channel activity NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 118 Lamotrigine(DB00555) TCTTCTTGGCCTTGCTTTTGA 0.393000 109 237 0 0 1 0 0 ITGAD 3681 broad.mit.edu 37 16 31435209 31435209 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr16:31435209C>T ENST00000389202.2 + 27 3138 c.3089C>T c.(3088-3090)cCc>cTc p.P1030L NM_005353.2 NP_005344.2 Q13349 ITAD_HUMAN integrin, alpha D 1030 cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway integrin complex receptor activity breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 71 TGTGACGTCCCCTCCTTCAGC 0.632000 21 74 0 0 1 0 0 KIDINS220 57498 broad.mit.edu 37 2 8926128 8926128 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:8926128G>A ENST00000256707.3 - 17 2153 c.1972C>T c.(1972-1974)Cca>Tca p.P658S KIDINS220_ENST00000418530.1_Missense_Mutation_p.P616S|KIDINS220_ENST00000427284.1_Missense_Mutation_p.P658S|KIDINS220_ENST00000319688.5_Missense_Mutation_p.P659S|KIDINS220_ENST00000473731.1_Missense_Mutation_p.P658S NM_020738.2 NP_065789.1 Q9ULH0 KDIS_HUMAN kinase D-interacting substrate, 220kDa 658 KAP NTPase. activation of MAPKK activity|nerve growth factor receptor signaling pathway cytosol|integral to membrane NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 60 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) ACAAAAGATGGGAGACAACAT 0.318000 24 55 0 0 1 0 0 PAPLN 89932 broad.mit.edu 37 14 73730952 73730952 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr14:73730952C>T ENST00000427855.1 + 21 2997 c.2895C>T c.(2893-2895)atC>atT p.I965I PAPLN_ENST00000554314.1_Intron|PAPLN_ENST00000554301.1_Silent_p.I965I|PAPLN_ENST00000340738.5_Silent_p.I938I|PAPLN_ENST00000381166.3_Silent_p.I965I|PAPLN_ENST00000555445.1_Silent_p.I949I O95428 PPN_HUMAN papilin, proteoglycan-like sulfated glycoprotein 965 Ig-like C2-type 1. proteinaceous extracellular matrix metalloendopeptidase activity|serine-type endopeptidase inhibitor activity|zinc ion binding NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(3) 42 BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468) CCCTGATCATCCACCCCCTGC 0.632000 31 104 0 0 1 0 0 ZKSCAN7 55888 broad.mit.edu 37 3 44612312 44612312 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:44612312G>A ENST00000273320.3 + 6 2139 c.1710G>A c.(1708-1710)caG>caA p.Q570Q ZKSCAN7_ENST00000341840.3_Intron|RP11-944L7.4_ENST00000457331.1_RNA|ZKSCAN7_ENST00000426540.1_Silent_p.Q570Q|ZKSCAN7_ENST00000431636.1_Intron NM_018651.2 NP_061121.2 zinc finger with KRAB and SCAN domains 7 TTCGACATCAGAGCCTCCATA 0.443000 61 86 0 0 1 0 0 PRUNE2 158471 broad.mit.edu 37 9 79323196 79323196 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:79323196C>T ENST00000428286.1 - 8 4117 c.2917G>A c.(2917-2919)Gga>Aga p.G973R PRUNE2_ENST00000376718.3_Missense_Mutation_p.G1332R Q8WUY3 PRUN2_HUMAN prune homolog 2 (Drosophila) 1332 apoptosis|G1 phase|induction of apoptosis cytoplasm metal ion binding|pyrophosphatase activity endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1) 16 TCAGTGGCTCCCTGGGCTTCC 0.527000 26 50 0 0 1 0 0 SDAD1 55153 broad.mit.edu 37 4 76877231 76877231 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:76877231G>A ENST00000356260.5 - 21 2031 c.1913C>T c.(1912-1914)tCc>tTc p.S638F SDAD1_ENST00000395711.4_Missense_Mutation_p.S601F|AC110615.1_ENST00000599764.1_Missense_Mutation_p.E59K NM_018115.2 NP_060585.2 Q9NVU7 SDA1_HUMAN SDA1 domain containing 1 638 protein transport|ribosomal large subunit biogenesis nucleolus protein binding breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1) 19 Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934) TGTCGAACTGGAAAATGGATT 0.353000 57 99 0 0 1 0 0 TMPRSS15 5651 broad.mit.edu 37 21 19685372 19685372 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr21:19685372C>T ENST00000284885.3 - 18 2088 c.2055G>A c.(2053-2055)acG>acA p.T685T NM_002772.2 NP_002763.2 P98073 ENTK_HUMAN transmembrane protease, serine 15 685 SRCR. proteolysis brush border|integral to membrane scavenger receptor activity|serine-type endopeptidase activity NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1) 85 CATTGTTGTTCGTtgtgccat 0.443000 26 68 0 0 1 0 0 SIRPG 55423 broad.mit.edu 37 20 1610902 1610902 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr20:1610902G>A ENST00000381580.1 - 5 1212 c.1033C>T c.(1033-1035)Ccc>Tcc p.P345S SIRPG_ENST00000478145.2_5'UTR|SIRPG_ENST00000381583.2_Missense_Mutation_p.P267S|SIRPG_ENST00000216927.4_Missense_Mutation_p.P267S|SIRPG_ENST00000344103.4_Missense_Mutation_p.P161S|SIRPG_ENST00000303415.3_Missense_Mutation_p.P378S Q9P1W8 SIRPG_HUMAN signal-regulatory protein gamma 378 blood coagulation|cell adhesion|cell junction assembly|cell-cell signaling|intracellular signal transduction|leukocyte migration|negative regulation of cell proliferation|positive regulation of cell proliferation|positive regulation of cell-cell adhesion|positive regulation of T cell activation integral to membrane|intracellular|plasma membrane protein binding breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|stomach(1) 27 ACGTAGATGGGGCCCAGGAGG 0.592000 4 19 0 0 1 0 0 ATP7B 540 broad.mit.edu 37 13 52548122 52548122 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr13:52548122C>T ENST00000242839.4 - 2 1390 c.1234G>A c.(1234-1236)Gaa>Aaa p.E412K ATP7B_ENST00000448424.2_Missense_Mutation_p.E412K|ATP7B_ENST00000344297.5_Missense_Mutation_p.E412K|ATP7B_ENST00000482841.1_5'UTR|ATP7B_ENST00000400366.3_Missense_Mutation_p.E301K|ATP7B_ENST00000418097.2_Missense_Mutation_p.E412K|ATP7B_ENST00000400370.3_Missense_Mutation_p.E412K|ATP7B_ENST00000542656.1_Missense_Mutation_p.E380K NM_000053.3 NP_000044.2 P35670 ATP7B_HUMAN ATPase, Cu++ transporting, beta polypeptide 412 HMA 4. ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion Golgi membrane|integral to plasma membrane|late endosome|mitochondrion ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2) 55 Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19) GBM - Glioblastoma multiforme(99;5.25e-08) GCTCTGAGTTCTTCTGGGCTA 0.468000 Wilson disease 12 127 0 0 1 0 0 PLEKHM1 9842 broad.mit.edu 37 17 43531424 43531424 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:43531424G>A ENST00000430334.3 - 7 1927 c.1794C>T c.(1792-1794)ttC>ttT p.F598F PLEKHM1_ENST00000421073.2_Silent_p.F509F|AC091132.1_ENST00000433601.1_RNA NM_014798.2 NP_055613.1 Q9Y4G2 PKHM1_HUMAN pleckstrin homology domain containing, family M (with RUN domain) member 1 598 PH 1. intracellular signal transduction cytoplasm metal ion binding breast(1)|central_nervous_system(1)|endometrium(6)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 26 Renal(3;0.0405) TCTTGCCAGAGAAGACCAGCT 0.647000 9 118 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179642463 179642463 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:179642463C>T ENST00000589042.1 - 25 4672 c.4448G>A c.(4447-4449)aGa>aAa p.R1483K TTN_ENST00000359218.5_Missense_Mutation_p.R1437K|TTN_ENST00000591111.1_Missense_Mutation_p.R1483K|RP11-88L24.4_ENST00000582038.2_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R1483K|TTN_ENST00000460472.2_Missense_Mutation_p.R1437K|TTN_ENST00000342175.6_Missense_Mutation_p.R1437K|TTN_ENST00000360870.5_Missense_Mutation_p.R1483K NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 1483 Ig-like 6. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TGGCATAGGTCTACCAACAAC 0.358000 30 77 0 0 1 0 0 TRPC4 7223 broad.mit.edu 37 13 38320118 38320118 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr13:38320118C>T ENST00000379705.3 - 3 1710 c.853G>A c.(853-855)Gat>Aat p.D285N TRPC4_ENST00000379681.3_Missense_Mutation_p.D285N|TRPC4_ENST00000379673.2_Missense_Mutation_p.D285N|TRPC4_ENST00000447043.1_Missense_Mutation_p.D285N|TRPC4_ENST00000355779.2_Missense_Mutation_p.D285N|TRPC4_ENST00000338947.5_Intron|TRPC4_ENST00000426868.2_Missense_Mutation_p.D285N|TRPC4_ENST00000358477.2_Missense_Mutation_p.D285N|TRPC4_ENST00000379679.1_Intron Q9UBN4 TRPC4_HUMAN transient receptor potential cation channel, subfamily C, member 4 285 Multimerization domain (By similarity). axon guidance|calcium ion import basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton beta-catenin binding|cadherin binding|store-operated calcium channel activity NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2) 83 all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126) CTTGCAAGATCATTTCCACTT 0.393000 6 319 0 0 1 0 0 AGXT2 64902 broad.mit.edu 37 5 35047935 35047935 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:35047935G>A ENST00000231420.6 - 1 263 c.63C>T c.(61-63)atC>atT p.I21I NM_031900.3 NP_114106.1 Q9BYV1 AGT2_HUMAN alanine--glyoxylate aminotransferase 2 21 glyoxylate metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process mitochondrial matrix (R)-3-amino-2-methylpropionate-pyruvate transaminase activity|alanine-glyoxylate transaminase activity|pyridoxal phosphate binding NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(18)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 41 all_lung(31;4.52e-05) COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229) GBM - Glioblastoma multiforme(108;0.181) Glycine(DB00145)|L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119) GCATCTCAAGGATCCTGGGAG 0.542000 22 56 0 0 1 0 0 CAPN13 92291 broad.mit.edu 37 2 30974112 30974112 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:30974112G>A ENST00000295055.8 - 11 1269 c.1093C>T c.(1093-1095)Cct>Tct p.P365S CAPN13_ENST00000534090.2_Missense_Mutation_p.P365S NM_144575.2 NP_653176.2 Q6MZZ7 CAN13_HUMAN calpain 13 365 proteolysis intracellular calcium ion binding|calcium-dependent cysteine-type endopeptidase activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1) 30 all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155) TCATTCCGAGGTCCTCCTGCA 0.512000 8 28 0 0 1 0 0 SVIL 6840 broad.mit.edu 37 10 29839764 29839764 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:29839764C>T ENST00000375398.2 - 8 1038 c.589G>A c.(589-591)Gag>Aag p.E197K SVIL_ENST00000355867.4_Missense_Mutation_p.E197K|SVIL_ENST00000375400.3_Missense_Mutation_p.E197K O95425 SVIL_HUMAN supervillin 197 cytoskeleton organization|skeletal muscle tissue development cell junction|costamere|invadopodium|nucleus|podosome actin filament binding breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2) 112 Breast(68;0.103) AGCAGCACCTCCGGGTCGGAA 0.602000 52 130 0 0 1 0 0 GTF3C2 2976 broad.mit.edu 37 2 27564919 27564919 + Nonsense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:27564919G>A ENST00000359541.2 - 4 1180 c.751C>T c.(751-753)Cag>Tag p.Q251* GTF3C2_ENST00000264720.3_Nonsense_Mutation_p.Q251*|AC109828.1_ENST00000590383.1_RNA Q8WUA4 TF3C2_HUMAN general transcription factor IIIC, polypeptide 2, beta 110kDa 251 transcription factor TFIIIC complex central_nervous_system(4)|endometrium(6)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2) 38 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GCCTCAACCTGGAGAAAAAAG 0.567000 12 80 0 0 1 0 0 ARID2 196528 broad.mit.edu 37 12 46230641 46230641 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:46230641C>T ENST00000334344.6 + 8 1062 c.890C>T c.(889-891)tCc>tTc p.S297F ARID2_ENST00000422737.1_Missense_Mutation_p.S148F|ARID2_ENST00000479608.1_3'UTR NM_152641.2 NP_689854.2 Q68CP9 ARID2_HUMAN AT rich interactive domain 2 (ARID, RFX-like) 297 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 116 Lung SC(27;0.192)|Renal(347;0.236) Lung NSC(34;0.106)|all_lung(34;0.22) OV - Ovarian serous cystadenocarcinoma(5;0.00691) GBM - Glioblastoma multiforme(48;0.0153) AGAAATCTTTCCTTTGAGGAG 0.398000 """N, S, F""" hepatocellular carcinoma 35 97 0 0 1 0 0 DNAH9 1770 broad.mit.edu 37 17 11827196 11827196 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:11827196G>A ENST00000262442.3 + 62 11883 c.11815G>A c.(11815-11817)Gaa>Aaa p.E3939K DNAH9_ENST00000396001.2_Missense_Mutation_p.E251K|DNAH9_ENST00000454412.2_Missense_Mutation_p.E3939K NM_001372.3 NP_001363.2 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 3939 AAA 6 (By similarity). cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4) 290 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) GCAAGGACAGGAAGTGGTGGC 0.473000 25 75 0 0 1 0 0 RAB11FIP5 26056 broad.mit.edu 37 2 73315281 73315281 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:73315281G>A ENST00000258098.6 - 3 1705 c.1465C>T c.(1465-1467)Ccc>Tcc p.P489S RAB11FIP5_ENST00000493523.2_5'UTR NM_015470.2 NP_056285.1 Q9BXF6 RFIP5_HUMAN RAB11 family interacting protein 5 (class I) 489 protein transport mitochondrial outer membrane|recycling endosome membrane gamma-tubulin binding biliary_tract(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 23 CCCAGGATGGGACCCCCCTTT 0.612000 49 139 0 0 1 0 0 NIPBL 25836 broad.mit.edu 37 5 36986159 36986159 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:36986159G>A ENST00000282516.8 + 10 3376 c.2877G>A c.(2875-2877)ccG>ccA p.P959P NIPBL_ENST00000504430.1_3'UTR|NIPBL_ENST00000448238.2_Silent_p.P959P NM_015384.4|NM_133433.3 NP_056199.2|NP_597677.2 Q6KC79 NIPBL_HUMAN Nipped-B homolog (Drosophila) 959 brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis SMC loading complex chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4) 128 all_lung(31;0.000447)|Hepatocellular(1;0.108) Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202) TTGTCATTCCGAAAATCAAGA 0.383000 59 171 0 0 1 0 0 OR8S1 341568 broad.mit.edu 37 12 48921838 48921838 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:48921838G>A ENST00000310194.1 + 2 1032 c.1032G>A c.(1030-1032)ggG>ggA p.G344G OR8S1_ENST00000551654.1_3'UTR NM_001005203.2 NP_001005203.2 Q8NH09 OR8S1_HUMAN olfactory receptor, family 8, subfamily S, member 1 344 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|skin(4) 22 AACCCCAAGGGGCCTGCGCAT 0.662000 8 18 0 0 1 0 0 NEK2 4751 broad.mit.edu 37 1 211840535 211840535 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:211840535C>T ENST00000366999.4 - 7 1162 c.1024G>A c.(1024-1026)Gag>Aag p.E342K NEK2_ENST00000366998.3_Missense_Mutation_p.E342K|NEK2_ENST00000540251.1_Missense_Mutation_p.E299K|NEK2_ENST00000462283.1_5'UTR NM_002497.3 NP_002488.1 P51955 NEK2_HUMAN NIMA-related kinase 2 342 Interaction with PCNT.|Necessary for interaction with MAD1L1.|Required for microtubule binding and for localization to the centrosomes. cell division|centrosome separation|G2/M transition of mitotic cell cycle|meiosis|protein autophosphorylation|regulation of mitosis centrosome|condensed chromosome kinetochore|cytosol|nucleolus ATP binding|metal ion binding|protein binding|protein phosphatase binding|protein serine/threonine kinase activity breast(2)|stomach(1) 3 OV - Ovarian serous cystadenocarcinoma(81;0.00203)|all cancers(67;0.0339)|Epithelial(68;0.0546) AGTTTGTCCTCTGCTAGTCTC 0.378000 11 276 0 0 1 0 0 NT5C1B 93034 broad.mit.edu 37 2 18765854 18765854 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:18765854C>T ENST00000304081.4 - 4 749 c.649G>A c.(649-651)Gac>Aac p.D217N NT5C1B_ENST00000600945.1_Missense_Mutation_p.D277N|NT5C1B-RDH14_ENST00000532967.1_Missense_Mutation_p.D277N|NT5C1B_ENST00000359846.2_Missense_Mutation_p.D277N NM_033253.3 NP_150278.2 5'-nucleotidase, cytosolic IB endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1) 29 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177) Ovarian(717;0.208) GCCTCGTAGTCGTCCTCGTCC 0.682000 10 30 0 0 1 0 0 PCSK5 5125 broad.mit.edu 37 9 78943055 78943055 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:78943055G>A ENST00000545128.1 + 32 4927 c.4389G>A c.(4387-4389)gaG>gaA p.E1463E NM_001190482.1 NP_001177411.1 Q92824 PCSK5_HUMAN proprotein convertase subtilisin/kexin type 5 630 anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release extracellular space|Golgi lumen|stored secretory granule peptide binding|serine-type endopeptidase activity NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 55 ACTGGGATGAGGATGCTCCCG 0.587000 19 267 0 0 1 0 0 MFAP4 4239 broad.mit.edu 37 17 19287849 19287849 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:19287849C>T ENST00000395592.2 - 6 837 c.766G>A c.(766-768)Ggc>Agc p.G256S MFAP4_ENST00000299610.4_Missense_Mutation_p.G232S|MFAP4_ENST00000497081.2_Missense_Mutation_p.G257S NM_001198695.1 NP_001185624.1 P55083 MFAP4_HUMAN microfibrillar-associated protein 4 232 cell adhesion|signal transduction microfibril receptor binding large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1) 10 all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206) CAGTTGATGCCATTGGCATAA 0.587000 14 34 0 0 1 0 0 ZACN 353174 broad.mit.edu 37 17 74075526 74075526 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:74075526C>T ENST00000334586.5 + 2 187 c.104C>T c.(103-105)cCa>cTa p.P35L ZACN_ENST00000392503.2_Missense_Mutation_p.P35L NM_180990.3 NP_851321.2 Q401N2 ZACN_HUMAN zinc activated ligand-gated ion channel 35 response to zinc ion integral to membrane|membrane fraction|plasma membrane|postsynaptic membrane extracellular ligand-gated ion channel activity|receptor activity breast(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 11 TCAGTCTGGCCATCCCTCTTC 0.557000 15 81 0 0 1 0 0 PRLR 5618 broad.mit.edu 37 5 35065908 35065908 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:35065908C>T ENST00000382002.5 - 10 1578 c.1152G>A c.(1150-1152)gaG>gaA p.E384E PRLR_ENST00000542609.1_Intron|PRLR_ENST00000310101.5_Intron|PRLR_ENST00000348262.3_Intron|PRLR_ENST00000511486.1_Silent_p.E283E|PRLR_ENST00000513753.1_Intron|PRLR_ENST00000231423.3_Intron|PRLR_ENST00000342362.5_Silent_p.E283E|PRLR_ENST00000397391.3_Intron NM_000949.5 NP_000940.1 P16471 PRLR_HUMAN prolactin receptor 384 activation of JAK2 kinase activity|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|embryo implantation|lactation|steroid biosynthetic process|T cell activation cell surface|extracellular region|integral to membrane metal ion binding|ornithine decarboxylase activator activity|peptide hormone binding|prolactin receptor activity|protein homodimerization activity central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 48 all_lung(31;3.83e-05) COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229) Dromostanolone(DB00858)|Fluoxymesterone(DB01185)|Pegvisomant(DB00082)|Somatropin recombinant(DB00052) TTTCAGGATTCTCTGGCTTCT 0.512000 35 114 0 0 1 0 0 PLB1 151056 broad.mit.edu 37 2 28763266 28763266 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:28763266G>A ENST00000422425.2 + 12 809 c.765G>A c.(763-765)gaG>gaA p.E255E PLB1_ENST00000327757.5_Silent_p.E244E NM_001170585.1 NP_001164056.1 Q6P1J6 PLB1_HUMAN phospholipase B1 244 4 X 308-326 AA approximate repeats. lipid catabolic process|retinoid metabolic process|steroid metabolic process apical plasma membrane|integral to membrane lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2) 69 Acute lymphoblastic leukemia(172;0.155) GCTCAGAGGAGACCACCCGGC 0.612000 18 32 0 0 1 0 0 NLGN4X 57502 broad.mit.edu 37 X 6069208 6069208 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chrX:6069208G>A ENST00000381095.3 - 2 927 c.300C>T c.(298-300)atC>atT p.I100I NLGN4X_ENST00000538097.1_Silent_p.I100I|NLGN4X_ENST00000381093.2_Silent_p.I100I|NLGN4X_ENST00000469740.1_5'UTR|NLGN4X_ENST00000275857.6_Silent_p.I100I|NLGN4X_ENST00000381092.1_Silent_p.I100I NM_181332.1 NP_851849.1 Q8N0W4 NLGNX_HUMAN neuroligin 4, X-linked 100 brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior cell surface|dendrite|integral to plasma membrane|synapse chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1) 81 TAGTATTTCGGATGCCAGTCC 0.572000 95 25 0 0 1 0 0 WDFY3 23001 broad.mit.edu 37 4 85694053 85694053 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:85694053G>A ENST00000322366.6 - 30 5191 c.4784C>T c.(4783-4785)cCa>cTa p.P1595L WDFY3_ENST00000295888.4_Missense_Mutation_p.P1595L Q8IZQ1 WDFY3_HUMAN WD repeat and FYVE domain containing 3 1595 cytoplasmic part|extrinsic to membrane|nuclear envelope 1-phosphatidylinositol binding|metal ion binding|protein binding breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 134 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000808) CGCAAAGGTTGGCAAAGTAGA 0.343000 20 35 0 0 1 0 0 FOXQ1 94234 broad.mit.edu 37 6 1313801 1313801 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:1313801G>A ENST00000296839.2 + 1 1127 c.862G>A c.(862-864)Gac>Aac p.D288N NM_033260.3 NP_150285.3 Q9C009 FOXQ1_HUMAN forkhead box Q1 288 Pro-rich. DNA fragmentation involved in apoptotic nuclear change|embryo development|hair follicle morphogenesis|pattern specification process|positive regulation of caspase activity|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity transcription factor complex caspase regulator activity|DNA bending activity|double-stranded DNA binding|estrogen receptor binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|ubiquitin conjugating enzyme binding lung(1)|urinary_tract(1) 2 Ovarian(93;0.0733) Breast(5;0.052)|all_lung(73;0.0713)|all_hematologic(90;0.0895) OV - Ovarian serous cystadenocarcinoma(45;0.0954)|BRCA - Breast invasive adenocarcinoma(62;0.18) CCGCCTCAGGGACACGGCCCC 0.776000 5 15 0 0 1 0 0 ANO3 63982 broad.mit.edu 37 11 26621237 26621237 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:26621237C>T ENST00000256737.3 + 17 2664 c.1812C>T c.(1810-1812)ttC>ttT p.F604F ANO3_ENST00000531568.1_Silent_p.F458F|ANO3_ENST00000525139.1_Silent_p.F588F|ANO3_ENST00000537978.1_Silent_p.F588F NM_031418.2 NP_113606.2 Q9BYT9 ANO3_HUMAN anoctamin 3 604 chloride channel complex chloride channel activity breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 68 GTATCAATTTCATAATCATTA 0.378000 30 55 0 0 1 0 0 NLRP3 114548 broad.mit.edu 37 1 247587966 247587966 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:247587966C>T ENST00000366497.2 + 4 2001 c.1221C>T c.(1219-1221)acC>acT p.T407T NLRP3_ENST00000391827.2_Silent_p.T407T|NLRP3_ENST00000366496.2_Silent_p.T407T|NLRP3_ENST00000336119.3_Silent_p.T407T|NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000348069.2_Silent_p.T407T|NLRP3_ENST00000391828.3_Silent_p.T407T NM_001127461.2 NP_001120933.1 Q96P20 NALP3_HUMAN NLR family, pyrin domain containing 3 407 NACHT. T -> P (in CINCA). detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction cytoplasm ATP binding|peptidoglycan binding|protein binding NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 142 all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.0172) OV - Ovarian serous cystadenocarcinoma(106;0.0141) TCCTCTTCACCATGTGCTTCA 0.547000 29 93 0 0 1 0 0 GLB1L2 89944 broad.mit.edu 37 11 134240195 134240195 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:134240195C>T ENST00000535456.2 + 12 1305 c.1117C>T c.(1117-1119)Ctc>Ttc p.L373F GLB1L2_ENST00000529077.1_3'UTR|GLB1L2_ENST00000339772.7_Missense_Mutation_p.L373F|GLB1L2_ENST00000389881.3_Missense_Mutation_p.L373F NM_138342.3 NP_612351.2 Q8IW92 GLBL2_HUMAN galactosidase, beta 1-like 2 373 carbohydrate metabolic process extracellular region cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 41 all_hematologic(175;0.127) all_cancers(12;2.85e-18)|all_epithelial(12;1.21e-12)|all_lung(97;0.000276)|Lung NSC(97;0.000518)|Breast(109;0.00122)|Medulloblastoma(222;0.0399)|all_neural(223;0.0412)|Esophageal squamous(93;0.0844) Epithelial(10;1.37e-11)|all cancers(11;2.2e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000885)|Lung(977;0.223) AGGCATCCCTCTCCCTCCCCC 0.602000 75 78 0 0 1 0 0 IGSF1 3547 broad.mit.edu 37 X 130408784 130408784 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chrX:130408784G>A ENST00000370904.1 - 24 4423 c.3513C>T c.(3511-3513)acC>acT p.T1171T IGSF1_ENST00000370910.1_Silent_p.T1171T|IGSF1_ENST00000361420.3_Silent_p.T1180T|IGSF1_ENST00000370903.3_Silent_p.T1185T Q8N6C5 IGSF1_HUMAN immunoglobulin superfamily, member 1 1180 Ig-like C2-type 12. regulation of transcription, DNA-dependent extracellular region|integral to membrane inhibin beta-A binding|inhibin beta-B binding breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2) 78 GGCACTGAAGGGTGATGTCCT 0.493000 109 39 0 0 1 0 0 XKR4 114786 broad.mit.edu 37 8 56436189 56436189 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:56436189G>A ENST00000327381.5 + 3 1456 c.1356G>A c.(1354-1356)agG>agA p.R452R NM_052898.1 NP_443130.1 Q5GH76 XKR4_HUMAN XK, Kell blood group complex subunit-related family, member 4 452 integral to membrane NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 34 Epithelial(17;0.000117)|all cancers(17;0.000836) AGGAAGGCAGGACACGCTGCA 0.453000 55 172 0 0 1 0 0 TLL2 7093 broad.mit.edu 37 10 98170201 98170201 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:98170201C>T ENST00000357947.3 - 9 1304 c.1079G>A c.(1078-1080)gGa>gAa p.G360E TLL2_ENST00000469598.1_5'UTR NM_012465.3 NP_036597.1 Q9Y6L7 TLL2_HUMAN tolloid-like 2 360 CUB 1. cell differentiation|multicellular organismal development|proteolysis extracellular region calcium ion binding|metalloendopeptidase activity|zinc ion binding NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3) 58 Colorectal(252;0.0846) Epithelial(162;1.51e-07)|all cancers(201;7.59e-06) AGAAAAGTTTCCCGTTGTGTC 0.582000 16 52 0 0 1 0 0 CATSPERB 79820 broad.mit.edu 37 14 92055973 92055973 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr14:92055973G>A ENST00000256343.3 - 24 3017 c.2861C>T c.(2860-2862)tCt>tTt p.S954F NM_024764.2 NP_079040.2 Q9H7T0 CTSRB_HUMAN catsper channel auxiliary subunit beta 954 cell differentiation|multicellular organismal development|spermatogenesis integral to membrane NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2) 54 all_cancers(154;0.0663)|all_epithelial(191;0.236) AATTTCCAAAGAAACTGGATA 0.383000 20 43 0 0 1 0 0 RASGRP1 10125 broad.mit.edu 37 15 38818546 38818546 + Nonsense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr15:38818546G>A ENST00000310803.5 - 3 457 c.280C>T c.(280-282)Cga>Tga p.R94* RP11-275I4.1_ENST00000559544.1_RNA|RASGRP1_ENST00000558164.1_Nonsense_Mutation_p.R94*|RASGRP1_ENST00000559830.1_Nonsense_Mutation_p.R94*|RASGRP1_ENST00000561180.1_Nonsense_Mutation_p.R145*|RASGRP1_ENST00000450598.2_Nonsense_Mutation_p.R94*|RASGRP1_ENST00000539159.1_Nonsense_Mutation_p.R46* NM_001128602.1|NM_005739.3 NP_001122074.1|NP_005730.2 O95267 GRP1_HUMAN RAS guanyl releasing protein 1 (calcium and DAG-regulated) 94 N-terminal Ras-GEF.|Ras exchanger motif region; required for transforming activity (By similarity). cell differentiation|platelet activation|Ras protein signal transduction|regulation of small GTPase mediated signal transduction cytosol|endoplasmic reticulum membrane|Golgi membrane|membrane fraction|plasma membrane calcium ion binding|guanyl-nucleotide exchange factor activity|lipid binding|protein binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 20 all_cancers(109;6.38e-17)|all_epithelial(112;5.51e-15)|Lung NSC(122;2.12e-11)|all_lung(180;5.63e-10)|Melanoma(134;0.0574) GBM - Glioblastoma multiforme(113;1.97e-07)|BRCA - Breast invasive adenocarcinoma(123;0.00248) ATGACAATTCGGTGCATGGTC 0.448000 5 80 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179434037 179434037 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:179434037G>A ENST00000589042.1 - 326 77046 c.76822C>T c.(76822-76824)Ctg>Ttg p.L25608L TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Silent_p.L16668L|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Silent_p.L23967L|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Silent_p.L23040L|TTN_ENST00000460472.2_Silent_p.L16543L|TTN_ENST00000342175.6_Silent_p.L16735L|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 23967 Fibronectin type-III 86. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GTGACTTTCAGGTTAACAGGT 0.398000 7 265 0 0 1 0 0 PLXNA4 91584 broad.mit.edu 37 7 131844321 131844321 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:131844321G>A ENST00000359827.3 - 25 5533 c.4571C>T c.(4570-4572)aCc>aTc p.T1524I PLXNA4_ENST00000321063.4_Missense_Mutation_p.T1524I Q9HCM2 PLXA4_HUMAN plexin A4 1524 integral to membrane|intracellular|plasma membrane NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1) 45 CTGAGTGATGGTGTCACAGTT 0.532000 204 406 0 0 1 0 0 NEB 4703 broad.mit.edu 37 2 152370904 152370904 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:152370904C>T ENST00000397345.3 - 159 23257 c.23055G>A c.(23053-23055)ggG>ggA p.G7685G NEB_ENST00000604864.1_Silent_p.G7685G|NEB_ENST00000603639.1_Silent_p.G7685G|NEB_ENST00000172853.10_Silent_p.G5984G|NEB_ENST00000427231.2_Silent_p.G7685G|NEB_ENST00000409198.1_Silent_p.G5984G NM_001164508.1 NP_001157980.1 P20929 NEBU_HUMAN nebulin 5984 muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development actin cytoskeleton|cytosol|Z disc actin binding|structural constituent of muscle NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2) 301 BRCA - Breast invasive adenocarcinoma(221;0.219) TGAGGCCCTTCCCACGGATGC 0.453000 102 195 0 0 1 0 0 MED13L 23389 broad.mit.edu 37 12 116457208 116457208 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:116457208C>T ENST00000281928.3 - 7 1036 c.830G>A c.(829-831)cGg>cAg p.R277Q NM_015335.4 NP_056150.1 Q71F56 MD13L_HUMAN mediator complex subunit 13-like 277 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 85 all_neural(191;0.117)|Medulloblastoma(191;0.163) BRCA - Breast invasive adenocarcinoma(302;0.0407) GTAAACCATCCGAACACCACC 0.428000 15 71 0 0 1 0 0 TCTE1 202500 broad.mit.edu 37 6 44253958 44253958 + Missense_Mutation SNP G G T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:44253958G>T ENST00000371505.4 - 3 711 c.589C>A c.(589-591)Ctt>Att p.L197I TMEM151B_ENST00000438774.2_Intron|TCTE1_ENST00000371504.1_Missense_Mutation_p.L44I|TCTE1_ENST00000371503.3_Missense_Mutation_p.L44I NM_182539.3 NP_872345.2 Q5JU00 TCTE1_HUMAN t-complex-associated-testis-expressed 1 197 breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 34 Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) ACCGGCGGAAGGAACTGATCG 0.647000 43 107 5.34276e-22 5.40099e-22 1 1 0 ZFHX4 79776 broad.mit.edu 37 8 77766737 77766737 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:77766737C>T ENST00000521891.2 + 10 8028 c.7580C>T c.(7579-7581)cCg>cTg p.P2527L ZFHX4_ENST00000455469.2_Missense_Mutation_p.P2482L|ZFHX4_ENST00000050961.6_Missense_Mutation_p.P2482L|ZFHX4_ENST00000518282.1_Missense_Mutation_p.P2501L NM_024721.4 NP_078997.4 Q86UP3 ZFHX4_HUMAN zinc finger homeobox 4 2482 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6) 432 BRCA - Breast invasive adenocarcinoma(89;0.0895) CTTCACTCTCCGTTCTTGGAA 0.507000 HNSCC(33;0.089) 92 136 0 0 1 0 0 XKR9 389668 broad.mit.edu 37 8 71646087 71646087 + Missense_Mutation SNP G G T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:71646087G>T ENST00000408926.3 + 5 1084 c.550G>T c.(550-552)Gta>Tta p.V184L XKR9_ENST00000520273.1_Intron|XKR9_ENST00000520030.1_Missense_Mutation_p.V184L NM_001011720.1 NP_001011720.1 Q5GH70 XKR9_HUMAN XK, Kell blood group complex subunit-related family, member 9 184 integral to membrane breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(4)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 19 Breast(64;0.0716) Epithelial(68;0.00301)|all cancers(69;0.0165)|OV - Ovarian serous cystadenocarcinoma(28;0.0524)|BRCA - Breast invasive adenocarcinoma(89;0.166) TGATTATCAAGTAGCTTTAAG 0.308000 28 69 6.07407e-21 6.13818e-21 1 1 0 IGDCC3 9543 broad.mit.edu 37 15 65623784 65623784 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr15:65623784G>A ENST00000327987.4 - 8 1613 c.1362C>T c.(1360-1362)atC>atT p.I454I IGDCC3_ENST00000559231.1_5'UTR NM_004884.3 NP_004875.2 Q8IVU1 IGDC3_HUMAN immunoglobulin superfamily, DCC subclass, member 3 454 Fibronectin type-III 1. breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(9)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 30 CGTAGCCGATGATCTCCTTGG 0.592000 7 76 0 0 1 0 0 UNC13C 440279 broad.mit.edu 37 15 54847638 54847638 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr15:54847638G>A ENST00000545554.1 + 28 5886 c.5886G>A c.(5884-5886)atG>atA p.M1962I UNC13C_ENST00000260323.11_Missense_Mutation_p.M1962I|UNC13C_ENST00000537900.1_Missense_Mutation_p.M1960I Q8NB66 UN13C_HUMAN unc-13 homolog C (C. elegans) 1962 MHD2. exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4) 121 GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124) AGGAGCACATGATTCGAGAGG 0.408000 9 28 0 0 1 0 0 PRRC2A 7916 broad.mit.edu 37 6 31599959 31599959 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:31599959G>A ENST00000376033.2 + 16 3743 c.3509G>A c.(3508-3510)cGg>cAg p.R1170Q PRRC2A_ENST00000376007.4_Missense_Mutation_p.R1170Q NM_004638.3 NP_004629.3 P48634 PRC2A_HUMAN proline-rich coiled-coil 2A 1170 4 X 57 AA type A repeats. cytoplasm|nucleus protein binding breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 70 CCATCTCGCCGGGGCCGAGGA 0.687000 29 87 0 0 1 0 0 PIK3R6 146850 broad.mit.edu 37 17 8740148 8740148 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:8740148C>T ENST00000311434.9 - 6 590 c.351G>A c.(349-351)ttG>ttA p.L117L PIK3R6_ENST00000434064.2_5'UTR NM_001010855.2 NP_001010855.1 Q5UE93 PI3R6_HUMAN phosphoinositide-3-kinase, regulatory subunit 6 117 platelet activation cytosol TCGCGCAGTCCAAGGCGACTG 0.552000 10 11 0 0 1 0 0 C2orf16 84226 broad.mit.edu 37 2 27804231 27804231 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:27804231C>T ENST00000408964.2 + 1 4843 c.4792C>T c.(4792-4794)Cat>Tat p.H1598Y NM_032266.3 NP_115642.3 Q68DN1 CB016_HUMAN chromosome 2 open reading frame 16 1598 27 X 8 AA approximative tandem repeat of P-S-E-R-S-H-H-S.|Arg-rich. breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1) 47 Acute lymphoblastic leukemia(172;0.155) TAGGAAAAACCATTCCAGTCC 0.547000 61 140 0 0 1 0 0 EFCAB6 64800 broad.mit.edu 37 22 44073974 44073974 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr22:44073974C>T ENST00000262726.7 - 13 1574 c.1321G>A c.(1321-1323)Gat>Aat p.D441N EFCAB6_ENST00000396231.2_Missense_Mutation_p.D289N|EFCAB6_ENST00000358439.4_3'UTR NM_022785.3 NP_073622.2 Q5THR3 EFCB6_HUMAN EF-hand calcium binding domain 6 441 EF-hand 5. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus calcium ion binding breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 68 Ovarian(80;0.0247)|all_neural(38;0.025) AATTCTGAATCGCTTAGTTTT 0.393000 28 66 0 0 1 0 0 KCNV1 27012 broad.mit.edu 37 8 110984847 110984847 + Missense_Mutation SNP T T A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:110984847T>A ENST00000524391.1 - 3 1663 c.631A>T c.(631-633)Atc>Ttc p.I211F KCNV1_ENST00000297404.1_Missense_Mutation_p.I211F Q6PIU1 KCNV1_HUMAN potassium channel, subfamily V, member 1 211 voltage-gated potassium channel complex ion channel inhibitor activity|potassium channel regulator activity|voltage-gated potassium channel activity breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(20)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 all_neural(195;0.219) OV - Ovarian serous cystadenocarcinoma(57;5.35e-13) ACGCCAAAGATACGGGCAGCT 0.512000 26 69 0 0 1 0 0 DYNAP 284254 broad.mit.edu 37 18 52262317 52262317 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr18:52262317G>A ENST00000321600.1 + 2 329 c.283G>A c.(283-285)Gaa>Aaa p.E95K DYNAP_ENST00000585973.1_Intron NM_173629.1 NP_775900.1 dynactin associated protein TCTACAGTCAGAATCCTGTAA 0.433000 44 90 0 0 1 0 0 MSMB 4477 broad.mit.edu 37 10 51562391 51562391 + Nonsense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:51562391G>A ENST00000358559.2 + 4 423 c.336G>A c.(334-336)tgG>tgA p.W112* MSMB_ENST00000298239.6_Missense_Mutation_p.G77E NM_002443.3 NP_002434.1 P08118 MSMB_HUMAN microseminoprotein, beta- 112 extracellular space|nucleus lung(4)|ovary(2)|prostate(1) 7 TCAGTGAATGGATAATCTAAT 0.458000 7 136 0 0 1 0 0 MAGEE2 139599 broad.mit.edu 37 X 75004711 75004711 + Missense_Mutation SNP G G A rs140206798 byFrequency TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chrX:75004711G>A ENST00000373359.2 - 1 368 c.176C>T c.(175-177)tCc>tTc p.S59F NM_138703.4 NP_619648.1 Q8TD90 MAGE2_HUMAN melanoma antigen family E, 2 59 autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 AACGGCCTGGGAAGTGTTGAC 0.597000 5 39 0 0 1 0 0 TRIM58 25893 broad.mit.edu 37 1 248039638 248039638 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:248039638C>T ENST00000366481.3 + 6 1356 c.1308C>T c.(1306-1308)ttC>ttT p.F436F OR2W3_ENST00000537741.1_Intron NM_015431.3 NP_056246.3 Q8NG06 TRI58_HUMAN tripartite motif containing 58 436 B30.2/SPRY. intracellular zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1) 63 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) all_cancers(173;0.0286) OV - Ovarian serous cystadenocarcinoma(106;0.0319) TCTACACATTCAACCAACTCT 0.433000 15 339 0 0 1 0 0 DKK2 27123 broad.mit.edu 37 4 107847068 107847068 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:107847068C>T ENST00000285311.3 - 2 966 c.261G>A c.(259-261)ggG>ggA p.G87G DKK2_ENST00000510463.1_Silent_p.G41G|DKK2_ENST00000513208.1_5'UTR NM_014421.2 NP_055236.1 Q9UBU2 DKK2_HUMAN dickkopf WNT signaling pathway inhibitor 2 87 DKK-type Cys-1. multicellular organismal development|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway extracellular space autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 32 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;6.34e-06) GGCAATACCTCCCAACTTCAC 0.502000 7 96 0 0 1 0 0 DMP1 1758 broad.mit.edu 37 4 88577679 88577679 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:88577679G>A ENST00000339673.6 + 2 134 c.35G>A c.(34-36)gGa>gAa p.G12E RP11-742B18.1_ENST00000506480.1_RNA|DMP1_ENST00000282479.7_Missense_Mutation_p.G12E NM_004407.3 NP_004398.1 Q13316 DMP1_HUMAN dentin matrix acidic phosphoprotein 1 12 biomineral tissue development|ossification cytoplasm|nucleus|proteinaceous extracellular matrix calcium ion binding|integrin binding breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(1)|stomach(1) 32 Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.227) OV - Ovarian serous cystadenocarcinoma(123;0.000516) TTCCTTTGGGGATTATCCTGT 0.393000 9 166 0 0 1 0 0 SSX7 280658 broad.mit.edu 37 X 52681305 52681305 + Nonsense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chrX:52681305G>A ENST00000298181.5 - 4 435 c.277C>T c.(277-279)Cag>Tag p.Q93* NM_173358.2 NP_775494.1 Q7RTT5 SSX7_HUMAN synovial sarcoma, X breakpoint 7 93 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|skin(1) 16 Ovarian(276;0.236) TACTCACCCTGATTCCCTTGG 0.517000 61 37 0 0 1 0 0 S100A7L2 645922 broad.mit.edu 37 1 153409684 153409684 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:153409684C>T ENST00000368725.2 - 3 188 c.189G>A c.(187-189)atG>atA p.M63I NM_001045479.1 NP_001038944.2 S100 calcium binding protein A7-like 2 NS(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1) 8 all_lung(78;2.4e-33)|Lung NSC(65;8.13e-32)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.171) ACAAGTAATCCATGTCGCTTT 0.373000 60 79 0 0 1 0 0 SPTBN4 57731 broad.mit.edu 37 19 41003506 41003506 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:41003506C>T ENST00000352632.3 + 7 865 c.779C>T c.(778-780)cCt>cTt p.P260L SPTBN4_ENST00000598249.1_Missense_Mutation_p.P260L|SPTBN4_ENST00000595535.1_Missense_Mutation_p.P260L|SPTBN4_ENST00000344104.3_Missense_Mutation_p.P260L|SPTBN4_ENST00000338932.3_Missense_Mutation_p.P260L Q9H254 SPTN4_HUMAN spectrin, beta, non-erythrocytic 4 260 Actin-binding.|CH 2. actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport cytosol|nuclear matrix|PML body|spectrin actin binding|ankyrin binding|structural constituent of cytoskeleton breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 73 Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384) CTGCTGGATCCTGAAGGTGAG 0.612000 27 79 0 0 1 0 0 SNHG14 104472715 broad.mit.edu 37 15 25330355 25330355 + RNA SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr15:25330355G>A ENST00000546682.1 + 0 339 SNHG14_ENST00000549804.2_RNA NR_003361.1 GGCATAGAAGGAAGGCCAGTG 0.517000 3 10 0 0 1 0 0 OR11L1 391189 broad.mit.edu 37 1 248004797 248004797 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:248004797G>A ENST00000355784.2 - 1 457 c.402C>T c.(400-402)ttC>ttT p.F134F NM_001001959.1 NP_001001959.1 Q8NGX0 O11L1_HUMAN olfactory receptor, family 11, subfamily L, member 1 134 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 57 all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858) OV - Ovarian serous cystadenocarcinoma(106;0.0319) GATGCATGAGGAAGGGGTAGC 0.582000 79 53 0 0 1 0 0 TMC8 147138 broad.mit.edu 37 17 76134493 76134493 + Missense_Mutation SNP T T G TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:76134493T>G ENST00000318430.5 + 13 1971 c.1597T>G c.(1597-1599)Ttc>Gtc p.F533V TMC8_ENST00000591144.1_3'UTR|TMC8_ENST00000589691.1_Missense_Mutation_p.F310V NM_152468.4 NP_689681.2 Q8IU68 TMC8_HUMAN transmembrane channel-like 8 533 endoplasmic reticulum membrane|integral to membrane breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 12 BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)|OV - Ovarian serous cystadenocarcinoma(97;0.192) CTCCACCTTCTTCTTCCAGCT 0.632000 9 296 0 0 1 0 0 GGT5 2687 broad.mit.edu 37 22 24640544 24640544 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr22:24640544G>A ENST00000327365.4 - 1 566 c.150C>T c.(148-150)tcC>tcT p.S50S GGT5_ENST00000263112.7_Silent_p.S50S|GGT5_ENST00000418439.2_Silent_p.S50S|GGT5_ENST00000398292.3_Silent_p.S50S NM_001099781.1|NM_004121.2 NP_001093251.1|NP_004112.2 P36269 GGT5_HUMAN gamma-glutamyltransferase 5 50 glutathione biosynthetic process|hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process integral to membrane|plasma membrane acyltransferase activity|gamma-glutamyltransferase activity breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(3)|skin(3) 28 AGCAGACCTTGGAGTCGGCGG 0.647000 64 112 0 0 1 0 0 CASP14 23581 broad.mit.edu 37 19 15164728 15164728 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:15164728G>A ENST00000427043.3 + 4 670 c.362G>A c.(361-363)cGa>cAa p.R121Q CASP14_ENST00000221740.1_Missense_Mutation_p.R121Q NM_012114.2 NP_036246.1 P31944 CASPE_HUMAN caspase 14, apoptosis-related cysteine peptidase 121 apoptosis|cell differentiation|epidermis development|proteolysis cytoplasm|nucleus cysteine-type endopeptidase activity NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|prostate(1)|skin(3) 26 CAGGCCCTGCGAGCTAAGCCC 0.527000 6 110 0 0 1 0 0 PLEKHG6 55200 broad.mit.edu 37 12 6428093 6428093 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:6428093G>A ENST00000536531.1 + 12 1637 c.1458G>A c.(1456-1458)ggG>ggA p.G486G PLEKHG6_ENST00000449001.2_Intron|PLEKHG6_ENST00000396988.3_Intron|PLEKHG6_ENST00000011684.7_Intron Q3KR16 PKHG6_HUMAN pleckstrin homology domain containing, family G (with RhoGef domain) member 6 559 PH. regulation of Rho protein signal transduction cleavage furrow|cytoplasm|spindle pole GTPase activator activity|Rho guanyl-nucleotide exchange factor activity autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(4) 23 CTCAGCGAGGGGAAGGAGGAG 0.562000 14 51 0 0 1 0 0 OR2S2 56656 broad.mit.edu 37 9 35957861 35957861 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:35957861C>T ENST00000341959.2 - 1 290 c.235G>A c.(235-237)Gtc>Atc p.V79I NM_019897.2 NP_063950.2 Q9NQN1 OR2S1_HUMAN olfactory receptor, family 2, subfamily S, member 2 79 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(8)|ovary(1)|skin(1)|stomach(1) 17 LUSC - Lung squamous cell carcinoma(32;0.00613)|STAD - Stomach adenocarcinoma(86;0.194) ACCAGTGGGACTGAGGAGGTA 0.557000 16 45 0 0 1 0 0 MGAT4C 25834 broad.mit.edu 37 12 86373206 86373206 + Missense_Mutation SNP C C T rs147861789 TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:86373206C>T ENST00000604798.1 - 8 2502 c.1298G>A c.(1297-1299)gGa>gAa p.G433E MGAT4C_ENST00000549405.2_Missense_Mutation_p.G433E|MGAT4C_ENST00000552808.2_Missense_Mutation_p.G433E|MGAT4C_ENST00000332156.1_Missense_Mutation_p.G433E|MGAT4C_ENST00000548651.1_Missense_Mutation_p.G433E|MGAT4C_ENST00000393205.2_Missense_Mutation_p.G462E Q9UBM8 MGT4C_HUMAN mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme C (putative) 433 post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 41 TTTGAATTCTCCTAGTCTTAA 0.343000 32 58 0 0 1 0 0 SLC51A 200931 broad.mit.edu 37 3 195956824 195956824 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:195956824C>T ENST00000296327.5 + 7 881 c.672C>T c.(670-672)ttC>ttT p.F224F PCYT1A_ENST00000419333.1_3'UTR NM_152672.5 NP_689885.4 solute carrier family 51, alpha subunit TCAACACTTTCCTTGGCGTGT 0.537000 34 72 0 0 1 0 0 COL4A1 1282 broad.mit.edu 37 13 110829347 110829347 + Silent SNP T T C TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr13:110829347T>C ENST00000375820.4 - 34 2875 c.2754A>G c.(2752-2754)ggA>ggG p.G918G NM_001845.4 NP_001836.2 P02462 CO4A1_HUMAN collagen, type IV, alpha 1 918 Triple-helical region. angiogenesis|axon guidance extracellular matrix structural constituent|platelet-derived growth factor binding breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 105 all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604) Breast(118;0.2) BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145) AGCCAGGGTCTCCCCTGGGTC 0.597000 7 56 0 0 1 0 0 DSC3 1825 broad.mit.edu 37 18 28576871 28576871 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr18:28576871C>T ENST00000434452.1 - 15 2533 c.2379G>A c.(2377-2379)cgG>cgA p.R793R DSC3_ENST00000360428.4_Silent_p.R793R NM_024423.2 NP_077741.2 Q14574 DSC3_HUMAN desmocollin 3 793 homophilic cell adhesion|protein stabilization desmosome|integral to membrane|membrane fraction calcium ion binding|gamma-catenin binding endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 56 OV - Ovarian serous cystadenocarcinoma(10;0.125) GCCCAGCCCCCCGGCAGGATT 0.512000 21 63 0 0 1 0 0 COL15A1 1306 broad.mit.edu 37 9 101817419 101817419 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:101817419C>T ENST00000375001.3 + 33 3490 c.3067C>T c.(3067-3069)Ctg>Ttg p.L1023L NM_001855.3 NP_001846.3 P39059 COFA1_HUMAN collagen, type XV, alpha 1 1023 Nonhelical region 7 (NC7). angiogenesis|cell differentiation|signal transduction collagen type XV|extracellular space|integral to membrane binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 107 Acute lymphoblastic leukemia(62;0.0562) GAGACACTTTCTGAACAACTT 0.353000 89 217 0 0 1 0 0 ANKH 56172 broad.mit.edu 37 5 14769226 14769226 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:14769226G>A ENST00000284268.6 - 2 501 c.171C>T c.(169-171)tcC>tcT p.S57S NM_054027.4 NP_473368.1 Q9HCJ1 ANKH_HUMAN ANKH inorganic pyrophosphate transport regulator 57 locomotory behavior|regulation of bone mineralization|skeletal system development integral to plasma membrane|outer membrane inorganic diphosphate transmembrane transporter activity|inorganic phosphate transmembrane transporter activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 29 ACTTCATGAGGGAGTACGCCA 0.547000 22 19 0 0 1 0 0 ELTD1 64123 broad.mit.edu 37 1 79386016 79386016 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:79386016G>A ENST00000370742.3 - 10 1376 c.1313C>T c.(1312-1314)tCa>tTa p.S438L NM_022159.3 NP_071442.2 Q9HBW9 ELTD1_HUMAN EGF, latrophilin and seven transmembrane domain containing 1 438 neuropeptide signaling pathway integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 69 COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148) ACAAATCAGTGAAATAATTAT 0.303000 8 134 0 0 1 0 0 IL27 246778 broad.mit.edu 37 16 28515238 28515238 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr16:28515238C>T ENST00000356897.1 - 2 187 c.165G>A c.(163-165)agG>agA p.R55R NM_145659.3 NP_663634.2 Q8NEV9 IL27A_HUMAN interleukin 27 55 inflammatory response|innate immune response|positive regulation of interferon-gamma biosynthetic process|regulation of defense response to virus|regulation of T cell proliferation|regulation of T-helper 1 cell differentiation extracellular space cytokine activity|interleukin-27 receptor binding endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1) 10 AGAGCAGCTTCCTGGCGAGAT 0.652000 36 76 0 0 1 0 0 SSMEM1 136263 broad.mit.edu 37 7 129855958 129855958 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:129855958G>A ENST00000297819.3 + 3 434 c.383G>A c.(382-384)cGa>cAa p.R128Q NM_145268.3 NP_660311.1 serine-rich single-pass membrane protein 1 GAACAAAGACGAGCCAGGCGC 0.483000 4 145 0 0 1 0 0 ANK3 288 broad.mit.edu 37 10 61868627 61868627 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:61868627C>T ENST00000280772.1 - 27 3325 c.3134G>A c.(3133-3135)aGg>aAg p.R1045K ANK3_ENST00000355288.2_Missense_Mutation_p.R179K|ANK3_ENST00000503366.1_Missense_Mutation_p.R1046K|ANK3_ENST00000373827.2_Missense_Mutation_p.R1039K NM_020987.3 NP_066267.2 Q12955 ANK3_HUMAN ankyrin 3, node of Ranvier (ankyrin G) 1045 ZU5. establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 196 TTCTACCAGCCTACTGGCTAA 0.493000 21 49 0 0 1 0 0 TAB1 10454 broad.mit.edu 37 22 39822843 39822843 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr22:39822843C>T ENST00000216160.6 + 9 1119 c.1057C>T c.(1057-1059)Ccc>Tcc p.P353S TAB1_ENST00000331454.3_Missense_Mutation_p.P353S NM_006116.2 NP_006107.1 Q15750 TAB1_HUMAN TGF-beta activated kinase 1/MAP3K7 binding protein 1 353 PP2C-like. activation of MAPK activity|activation of MAPKKK activity|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|endosome membrane catalytic activity|protein binding breast(1)|endometrium(2)|large_intestine(2)|lung(8)|urinary_tract(1) 14 CAGGTTCTGCCCCCGGCACGA 0.667000 49 94 0 0 1 0 0 SCNN1A 6337 broad.mit.edu 37 12 6464002 6464002 + Silent SNP T T G TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:6464002T>G ENST00000358945.3 - 6 1596 c.1156A>C c.(1156-1158)Aga>Cga p.R386R SCNN1A_ENST00000396966.2_Silent_p.R386R|SCNN1A_ENST00000538979.1_5'UTR|SCNN1A_ENST00000540037.1_Silent_p.R86R|SCNN1A_ENST00000228916.2_Silent_p.R386R|SCNN1A_ENST00000543768.1_Silent_p.R409R|SCNN1A_ENST00000360168.3_Silent_p.R445R P37088 SCNNA_HUMAN sodium channel, non-voltage-gated 1 alpha subunit 386 excretion|response to stimulus|sensory perception of taste apical plasma membrane WW domain binding central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(2)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 27 Amiloride(DB00594)|Triamterene(DB00384) CCCCCAAGTCTGTCCAGGGTT 0.517000 42 104 0 0 1 0 0 PTPRD 5789 broad.mit.edu 37 9 8528696 8528696 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:8528696G>A ENST00000381196.4 - 12 979 c.436C>T c.(436-438)Ctt>Ttt p.L146F PTPRD_ENST00000397617.3_Missense_Mutation_p.L146F|PTPRD_ENST00000356435.5_Missense_Mutation_p.L146F|PTPRD_ENST00000358503.5_Missense_Mutation_p.L146F|PTPRD_ENST00000540109.1_Missense_Mutation_p.L146F|PTPRD_ENST00000537002.1_Missense_Mutation_p.L146F|PTPRD_ENST00000486161.1_Missense_Mutation_p.L146F|PTPRD_ENST00000463477.1_Missense_Mutation_p.L146F|PTPRD_ENST00000397611.3_Missense_Mutation_p.L146F|PTPRD_ENST00000360074.4_Missense_Mutation_p.L146F|PTPRD_ENST00000355233.5_Missense_Mutation_p.L146F|PTPRD_ENST00000397606.3_Missense_Mutation_p.L146F NM_002839.3 NP_002830.1 P23468 PTPRD_HUMAN protein tyrosine phosphatase, receptor type, D 146 Ig-like C2-type 2. transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 168 all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824) all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119) GCTGCACAAAGCATGGTGGCC 0.483000 TSP Lung(15;0.13) 57 58 0 0 1 0 0 SDCCAG3 10807 broad.mit.edu 37 9 139301823 139301823 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:139301823G>A ENST00000298537.7 - 4 735 c.524C>T c.(523-525)cCc>cTc p.P175L SDCCAG3_ENST00000371725.3_Missense_Mutation_p.P125L|SDCCAG3_ENST00000357365.3_Missense_Mutation_p.P198L NM_006643.3 NP_006634.3 Q96C92 SDCG3_HUMAN serologically defined colon cancer antigen 3 198 cytoplasm NS(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9) 16 Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;8.18e-06)|Epithelial(140;9.31e-06) GACCCTCTCGGGGTGAGTCTG 0.662000 4 15 0 0 1 0 0 GSDMA 284110 broad.mit.edu 37 17 38131251 38131251 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:38131251C>T ENST00000301659.4 + 10 1123 c.1005C>T c.(1003-1005)ttC>ttT p.F335F NM_178171.4 NP_835465.2 Q96QA5 GSDMA_HUMAN gasdermin A 335 apoptosis|induction of apoptosis perinuclear region of cytoplasm NS(1)|endometrium(2)|large_intestine(3)|lung(1) 7 TCCTCTATTTCGTTGGAGCCC 0.458000 15 21 0 0 1 0 0 PRKG1 5592 broad.mit.edu 37 10 54011354 54011354 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:54011354C>T ENST00000373980.4 + 10 1518 c.1101C>T c.(1099-1101)ttC>ttT p.F367F PRKG1_ENST00000373985.1_Silent_p.F340F|PRKG1-AS1_ENST00000452247.2_RNA|PRKG1_ENST00000373975.2_Silent_p.F70F|PRKG1_ENST00000401604.2_Silent_p.F352F NM_006258.3 NP_006249.1 Q13976 KGP1_HUMAN protein kinase, cGMP-dependent, type I 352 Protein kinase. actin cytoskeleton organization|platelet activation|signal transduction cytosol ATP binding|cGMP binding|cGMP-dependent protein kinase activity autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 53 all_cancers(4;2.13e-08)|all_epithelial(4;2.44e-08)|all_lung(4;0.000173) all cancers(4;1.18e-05)|GBM - Glioblastoma multiforme(4;0.000359)|Epithelial(53;0.00532)|Lung(62;0.0606) CGGCTTTCTTCGCCAACCTGA 0.408000 33 50 0 0 1 0 0 ANGPT2 285 broad.mit.edu 37 8 6366561 6366561 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:6366561C>T ENST00000325203.5 - 8 1696 c.1222G>A c.(1222-1224)Ggg>Agg p.G408R ANGPT2_ENST00000523120.1_Missense_Mutation_p.G407R|ANGPT2_ENST00000415216.1_Missense_Mutation_p.G407R|ANGPT2_ENST00000338312.6_Missense_Mutation_p.G356R|MCPH1_ENST00000344683.5_Intron O15123 ANGP2_HUMAN angiopoietin 2 408 Fibrinogen C-terminal. angiogenesis|blood coagulation|leukocyte migration|negative regulation of blood vessel endothelial cell migration|negative regulation of positive chemotaxis|Tie receptor signaling pathway extracellular space metal ion binding|receptor tyrosine kinase binding breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|skin(1)|upper_aerodigestive_tract(1) 17 Hepatocellular(245;0.0663) Colorectal(4;0.0142)|READ - Rectum adenocarcinoma(4;0.19)|COAD - Colon adenocarcinoma(4;0.226) CCGGCTGTCCCTGTAAGTCCT 0.398000 8 166 0 0 1 0 0 ZMAT1 84460 broad.mit.edu 37 X 101139430 101139430 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chrX:101139430C>T ENST00000458570.1 - 9 1786 c.456G>A c.(454-456)aaG>aaA p.K152K ZMAT1_ENST00000540921.1_Silent_p.K323K|ZMAT1_ENST00000372782.3_Silent_p.K323K|ZMAT1_ENST00000494068.1_5'UTR A7MD47 A7MD47_HUMAN zinc finger, matrin-type 1 152 nucleus zinc ion binding endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2) 22 TGAAACAAGTCTTTGGATCTA 0.388000 77 29 0 0 1 0 0 USP28 57646 broad.mit.edu 37 11 113673999 113673999 + Nonsense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:113673999G>A ENST00000003302.4 - 23 2811 c.2743C>T c.(2743-2745)Caa>Taa p.Q915* USP28_ENST00000545540.1_Nonsense_Mutation_p.Q758*|USP28_ENST00000544967.1_Nonsense_Mutation_p.Q591*|USP28_ENST00000260188.5_Nonsense_Mutation_p.Q883* NM_020886.2 NP_065937.1 Q96RU2 UBP28_HUMAN ubiquitin specific peptidase 28 915 cell proliferation|DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process nucleolus|nucleoplasm protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 59 all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425) BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104) AGTGCCTCTTGGTACCTTAGA 0.473000 34 34 0 0 1 0 0 NUTM1 256646 broad.mit.edu 37 15 34646934 34646934 + Splice_Site SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr15:34646934G>A ENST00000537011.1 + 6 1744 c.e6+1 NUTM1_ENST00000333756.4_Splice_Site|NUTM1_ENST00000438749.3_Splice_Site NUT midline carcinoma, family member 1 TGTCTCCAAGGTGAGCTGGGC 0.517000 42 101 0 0 1 0 0 MTMR3 8897 broad.mit.edu 37 22 30416299 30416299 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr22:30416299C>T ENST00000333027.3 + 17 2979 c.2651C>T c.(2650-2652)cCt>cTt p.P884L MTMR3_ENST00000406629.1_Missense_Mutation_p.P884L|CTA-85E5.10_ENST00000429350.1_RNA|MTMR3_ENST00000401950.2_Missense_Mutation_p.P884L|MTMR3_ENST00000323630.5_Missense_Mutation_p.P748L|MTMR3_ENST00000351488.3_Missense_Mutation_p.P884L NM_153050.2|NM_153051.2 NP_694690.1|NP_694691.1 Q13615 MTMR3_HUMAN myotubularin related protein 3 884 phosphatidylinositol dephosphorylation cytoplasm|membrane|membrane fraction|nucleus metal ion binding|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity breast(3)|large_intestine(3)|ovary(2)|skin(8)|upper_aerodigestive_tract(1) 17 OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107) GAACCCAGCCCTTCAGAGACA 0.547000 44 62 0 0 1 0 0 ZNF573 126231 broad.mit.edu 37 19 38230079 38230079 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:38230079C>T ENST00000339503.4 - 8 1639 c.1138G>A c.(1138-1140)Ggc>Agc p.G380S ZNF573_ENST00000536220.1_Missense_Mutation_p.G350S|ZNF573_ENST00000392138.1_Missense_Mutation_p.G351S|ZNF573_ENST00000357309.3_Missense_Mutation_p.G350S|ZNF573_ENST00000590414.2_Missense_Mutation_p.G438S NM_152360.3 NP_689573.3 Q86YE8 ZN573_HUMAN zinc finger protein 573 418 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|cervix(3)|endometrium(2)|large_intestine(8)|liver(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)|Lung(45;0.0813)|LUSC - Lung squamous cell carcinoma(53;0.146) TGTTTCATGCCAGTATGAATT 0.358000 14 230 0 0 1 0 0 OR8I2 120586 broad.mit.edu 37 11 55861061 55861061 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:55861061C>T ENST00000302124.2 + 1 309 c.278C>T c.(277-279)tCc>tTc p.S93F OR8I2_ENST00000560768.1_Missense_Mutation_p.S93F Q8N0Y5 OR8I2_HUMAN olfactory receptor, family 8, subfamily I, member 2 93 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.S93C(1) NS(1)|breast(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 53 Esophageal squamous(21;0.00693) AGATCCATCTCCTTTGTTGGC 0.388000 32 202 0 0 1 0 0 FCGBP 8857 broad.mit.edu 37 19 40433355 40433355 + Missense_Mutation SNP A A G TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:40433355A>G ENST00000221347.6 - 2 921 c.914T>C c.(913-915)cTc>cCc p.L305P NM_003890.2 NP_003881.2 Q9Y6R7 FCGBP_HUMAN Fc fragment of IgG binding protein 305 IgGFc-binding. extracellular region protein binding NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3) 165 all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06) Epithelial(26;6.25e-23)|all cancers(26;1.13e-20) AGACAGGTAGAGTGGCCAGGA 0.557000 39 66 0 0 1 0 0 SBNO1 55206 broad.mit.edu 37 12 123795617 123795617 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:123795617G>A ENST00000420886.2 - 24 3279 c.3280C>T c.(3280-3282)Ctt>Ttt p.L1094F SBNO1_ENST00000602750.1_Missense_Mutation_p.L1093F|SBNO1_ENST00000602398.1_Missense_Mutation_p.L1094F|SBNO1_ENST00000267176.4_Missense_Mutation_p.L1093F NM_001167856.1 NP_001161328.1 A3KN83 SBNO1_HUMAN strawberry notch homolog 1 (Drosophila) 1094 ATP binding|DNA binding|hydrolase activity NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2) 62 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197) TCGAGAGTAAGAATTCCCGAG 0.388000 33 61 0 0 1 0 0 GRM2 2912 broad.mit.edu 37 3 51749389 51749389 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:51749389G>A ENST00000395052.3 + 4 1834 c.1600G>A c.(1600-1602)Gaa>Aaa p.E534K GRM2_ENST00000475478.1_3'UTR|GRM2_ENST00000442933.2_Intron NM_000839.3 NP_000830.2 Q14416 GRM2_HUMAN glutamate receptor, metabotropic 2 534 synaptic transmission integral to plasma membrane breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 33 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716) Acamprosate(DB00659)|Nicotine(DB00184) CCGATTGGACGAATTCACTTG 0.607000 30 42 0 0 1 0 0 CACNA2D4 93589 broad.mit.edu 37 12 1995472 1995472 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:1995472C>T ENST00000382722.5 - 8 1272 c.910G>A c.(910-912)Ggg>Agg p.G304R CACNA2D4_ENST00000585732.1_Intron|CACNA2D4_ENST00000585708.1_Missense_Mutation_p.G240R|CACNA2D4_ENST00000588077.1_Missense_Mutation_p.G240R|CACNA2D4_ENST00000586184.1_Missense_Mutation_p.G304R|CACNA2D4_ENST00000587995.1_Missense_Mutation_p.G304R NM_172364.4 NP_758952.4 Q7Z3S7 CA2D4_HUMAN calcium channel, voltage-dependent, alpha 2/delta subunit 4 304 VWFA. integral to membrane calcium channel activity|metal ion binding|voltage-gated ion channel activity endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 39 Ovarian(42;0.107) Myeloproliferative disorder(1001;0.206) OV - Ovarian serous cystadenocarcinoma(31;0.00113) Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451) ATCCTCAGCCCCTTCATACTG 0.493000 26 36 0 0 1 0 0 CMTR2 55783 broad.mit.edu 37 16 71318089 71318089 + Nonsense_Mutation SNP T T A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr16:71318089T>A ENST00000338099.5 - 3 2071 c.1735A>T c.(1735-1737)Aag>Tag p.K579* FTSJD1_ENST00000434935.2_Nonsense_Mutation_p.K579* Q8IYT2 FTSJ1_HUMAN 579 integral to membrane methyltransferase activity|nucleic acid binding breast(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 AGCAGGCACTTTATTTGATTG 0.423000 28 20 0 0 1 0 0 SCN5A 6331 broad.mit.edu 37 3 38592724 38592724 + Nonsense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:38592724C>T ENST00000413689.1 - 28 5332 c.5139G>A c.(5137-5139)tgG>tgA p.W1713* SCN5A_ENST00000443581.1_Nonsense_Mutation_p.W1712*|SCN5A_ENST00000451551.2_Nonsense_Mutation_p.W1659*|SCN5A_ENST00000414099.2_Nonsense_Mutation_p.W1695*|SCN5A_ENST00000423572.2_Nonsense_Mutation_p.W1712*|SCN5A_ENST00000450102.2_Nonsense_Mutation_p.W1659*|SCN5A_ENST00000449557.2_Nonsense_Mutation_p.W1659*|SCN5A_ENST00000333535.4_Nonsense_Mutation_p.W1713*|SCN5A_ENST00000455624.2_Nonsense_Mutation_p.W1680*|SCN5A_ENST00000425664.1_Nonsense_Mutation_p.W1695* NM_001099404.1|NM_001160160.1 NP_001092874.1|NP_001153632.1 Q14524 SCN5A_HUMAN sodium channel, voltage-gated, type V, alpha subunit 1713 blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction sarcolemma|voltage-gated sodium channel complex protein binding|voltage-gated sodium channel activity NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4) 107 Medulloblastoma(35;0.163) KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1) Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661) GGAGGCCATCCCAGCCGGCCG 0.632000 54 115 0 0 1 0 0 B3GALT5 10317 broad.mit.edu 37 21 41032882 41032882 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr21:41032882C>T ENST00000380620.3 + 5 988 c.396C>T c.(394-396)acC>acT p.T132T AF064860.5_ENST00000416555.1_RNA|B3GALT5_ENST00000343118.4_Silent_p.T132T|B3GALT5_ENST00000380618.1_Silent_p.T132T|B3GALT5_ENST00000398714.2_Silent_p.T132T Q9Y2C3 B3GT5_HUMAN UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 5 132 protein glycosylation endoplasmic reticulum|Golgi membrane|integral to membrane UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1) 16 Prostate(19;2.55e-06) ACAATCTGACCCTGAAGACCA 0.498000 31 91 0 0 1 0 0 GBA3 57733 broad.mit.edu 37 4 22749269 22749269 + RNA SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:22749269C>T ENST00000508166.1 + 0 739 GBA3_ENST00000503442.1_RNA|GBA3_ENST00000511446.1_RNA NM_020973.4 NP_066024.1 Q9H227 GBA3_HUMAN glucosidase, beta, acid 3 (gene/pseudogene) glycoside catabolic process|glycosylceramide catabolic process cytosol beta-galactosidase activity|beta-glucosidase activity|cation binding|glycosylceramidase activity p.R213*(1) breast(1)|kidney(2)|large_intestine(4)|lung(20)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 33 TTCCTTATTTCGAAAAAAGCA 0.473000 56 130 0 0 1 0 0 APOB 338 broad.mit.edu 37 2 21234982 21234982 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:21234982C>T ENST00000233242.1 - 26 4885 c.4758G>A c.(4756-4758)aaG>aaA p.K1586K NM_000384.2 NP_000375.2 P04114 APOB_HUMAN apolipoprotein B 1586 cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6) 305 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) TCATATCCATCTTGTTAGAAG 0.398000 35 61 0 0 1 0 0 RYR2 6262 broad.mit.edu 37 1 237895364 237895364 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:237895364C>T ENST00000366574.2 + 78 11271 c.10954C>T c.(10954-10956)Cca>Tca p.P3652S RYR2_ENST00000360064.6_Missense_Mutation_p.P3650S|RYR2_ENST00000542537.1_Missense_Mutation_p.P3636S NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 3652 cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) GGCTGAACCTCCAGAAGAAGA 0.398000 51 50 0 0 1 0 0 ABCC4 10257 broad.mit.edu 37 13 95858788 95858788 + Nonsense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr13:95858788G>A ENST00000376887.4 - 8 1273 c.1159C>T c.(1159-1161)Cag>Tag p.Q387* ABCC4_ENST00000412704.1_Nonsense_Mutation_p.Q387*|ABCC4_ENST00000538287.1_3'UTR|ABCC4_ENST00000431522.1_Nonsense_Mutation_p.Q387*|ABCC4_ENST00000536256.1_Nonsense_Mutation_p.Q312* NM_005845.3 NP_005836.2 O15439 MRP4_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 4 387 platelet activation|platelet degranulation integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane 15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1) 43 all_neural(89;0.0878)|Medulloblastoma(90;0.163) Cefazolin(DB01327) ACACCAACCTGGATTCTTCGG 0.468000 36 38 0 0 1 0 0 HTR2B 3357 broad.mit.edu 37 2 231988227 231988227 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:231988227C>T ENST00000258400.3 - 2 764 c.252G>A c.(250-252)aaG>aaA p.K84K PSMD1_ENST00000373635.4_Intron|PSMD1_ENST00000308696.6_Intron|PSMD1_ENST00000409643.1_Intron NM_000867.4 NP_000858.3 P41595 5HT2B_HUMAN 5-hydroxytryptamine (serotonin) receptor 2B, G protein-coupled 84 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cardiac muscle hypertrophy|cellular response to calcium ion|cellular response to temperature stimulus|cGMP biosynthetic process|embryonic morphogenesis|ERK1 and ERK2 cascade|G-protein coupled receptor internalization|heart morphogenesis|intestine smooth muscle contraction|negative regulation of apoptosis|negative regulation of autophagy|neural crest cell migration|phosphatidylinositol 3-kinase cascade|phosphatidylinositol biosynthetic process|phosphorylation|positive regulation of cell division|positive regulation of cytokine production|positive regulation of cytokine secretion|positive regulation of endothelial cell proliferation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAP kinase activity|positive regulation of nitric-oxide synthase activity|protein kinase C signaling cascade|regulation of behavior|release of sequestered calcium ion into cytosol|response to drug|vasoconstriction cytoplasm|integral to membrane|plasma membrane calcium channel activity|drug binding|G-protein alpha-subunit binding|phosphatidylinositol phospholipase C activity|Ras GTPase activator activity|serotonin binding|serotonin receptor activity breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|urinary_tract(1) 11 Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)|Medulloblastoma(418;0.232) Epithelial(121;4.48e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0141) Chlorprothixene(DB01239)|Eletriptan(DB00216)|Fenfluramine(DB00574)|Methotrimeprazine(DB01403)|Minaprine(DB00805)|Quetiapine(DB01224)|Sumatriptan(DB00669)|Tegaserod(DB01079)|Triflupromazine(DB00508) CATACTGCAGCTTCTTCTCCA 0.423000 65 114 0 0 1 0 0 IQGAP3 128239 broad.mit.edu 37 1 156507028 156507028 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:156507028G>A ENST00000361170.2 - 27 3377 c.3367C>T c.(3367-3369)Ctc>Ttc p.L1123F IQGAP3_ENST00000498755.1_5'UTR NM_178229.4 NP_839943.2 Q86VI3 IQGA3_HUMAN IQ motif containing GTPase activating protein 3 1123 Ras-GAP. small GTPase mediated signal transduction intracellular calmodulin binding|Ras GTPase activator activity p.L1123F(1) NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3) 75 all_hematologic(923;0.088)|Hepatocellular(266;0.158) GTCATGGCGAGGAGGTTGCGT 0.552000 25 94 0 0 1 0 0 AES 166 broad.mit.edu 37 19 3054021 3054021 + Missense_Mutation SNP G G T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:3054021G>T ENST00000221561.8 - 7 770 c.591C>A c.(589-591)caC>caA p.H197Q AES_ENST00000592330.1_Intron|AES_ENST00000327141.4_Missense_Mutation_p.H130Q|AES_ENST00000586839.1_Missense_Mutation_p.H74Q NM_198969.1 NP_945320.1 Q08117 AES_HUMAN amino-terminal enhancer of split 130 CCN domain. negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of response to cytokine stimulus|negative regulation of transcription from RNA polymerase II promoter|organ morphogenesis|response to interleukin-1|transcription, DNA-dependent|Wnt receptor signaling pathway nucleus protein binding|transcription corepressor activity lung(8) 8 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GGGACAGCTGGTGGGCTTGGA 0.726000 6 20 0.217242 0.217279 1 1 0 MKL2 57496 broad.mit.edu 37 16 14334148 14334148 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr16:14334148C>T ENST00000571589.1 + 10 1058 c.886C>T c.(886-888)Ccc>Tcc p.P296S MKL2_ENST00000573051.1_Missense_Mutation_p.P245S|MKL2_ENST00000318282.5_Missense_Mutation_p.P296S|MKL2_ENST00000572567.1_Missense_Mutation_p.P285S|MKL2_ENST00000574045.1_Missense_Mutation_p.P296S|MKL2_ENST00000341243.5_Missense_Mutation_p.P285S NM_014048.3 NP_054767.3 Q9ULH7 MKL2_HUMAN MKL/myocardin-like 2 285 cell differentiation|muscle organ development|positive regulation of striated muscle tissue development|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent identical protein binding|nucleic acid binding|transcription coactivator activity breast(3)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(6)|liver(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 GTGCAAAGATCCCAAACCACG 0.418000 46 105 0 0 1 0 0 CACNA1A 773 broad.mit.edu 37 19 13409695 13409695 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:13409695C>T ENST00000360228.5 - 19 2751 c.2752G>A c.(2752-2754)Ggc>Agc p.G918S CACNA1A_ENST00000573710.2_Missense_Mutation_p.G919S NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2 NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2 O00555 CAC1A_HUMAN calcium channel, voltage-dependent, P/Q type, alpha 1A subunit 919 E -> D (in dbSNP:rs16022). cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion cytoplasm|nucleus syntaxin binding breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1) 42 OV - Ovarian serous cystadenocarcinoma(19;5.07e-21) Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230) TCGGCCTCGCCCTCCCAGAAC 0.776000 8 14 0 0 1 0 0 FCER1G 2207 broad.mit.edu 37 1 161188497 161188497 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:161188497C>T ENST00000289902.1 + 4 207 c.182C>T c.(181-183)tCa>tTa p.S61L FCER1G_ENST00000367992.3_Missense_Mutation_p.S61L|FCER1G_ENST00000490414.1_3'UTR NM_004106.1 NP_004097.1 P30273 FCERG_HUMAN Fc fragment of IgE, high affinity I, receptor for; gamma polypeptide 61 ITAM. platelet activation integral to plasma membrane endometrium(1)|lung(5) 6 all_cancers(52;1.35e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00376) Benzylpenicilloyl Polylysine(DB00895) CTGCAGAAATCAGATGGTGTT 0.567000 59 81 0 0 1 0 0 KCNK10 54207 broad.mit.edu 37 14 88729858 88729858 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr14:88729858C>T ENST00000340700.5 - 2 526 c.75G>A c.(73-75)aaG>aaA p.K25K KCNK10_ENST00000319231.5_Silent_p.K30K|KCNK10_ENST00000312350.5_Silent_p.K30K NM_021161.4 NP_066984.1 P57789 KCNKA_HUMAN potassium channel, subfamily K, member 10 25 signal transduction integral to membrane potassium channel activity|voltage-gated ion channel activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 47 TAGTGGCGCTCTTGGGCTGGC 0.587000 49 98 0 0 1 0 0 SERPINE1 5054 broad.mit.edu 37 7 100777068 100777068 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:100777068G>A ENST00000223095.4 + 5 950 c.793G>A c.(793-795)Gaa>Aaa p.E265K SERPINE1_ENST00000445463.2_Missense_Mutation_p.E250K NM_000602.4 NP_000593.1 P05121 PAI1_HUMAN serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1 265 angiogenesis|cellular response to chemical stimulus|cellular response to lipopolysaccharide|chronological cell aging|defense response to Gram-negative bacterium|fibrinolysis|negative regulation of apoptosis|negative regulation of cell adhesion mediated by integrin|negative regulation of fibrinolysis|negative regulation of plasminogen activation|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell-matrix adhesion|negative regulation of vascular wound healing|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of interleukin-8 production|positive regulation of leukotriene production involved in inflammatory response|positive regulation of monocyte chemotaxis|positive regulation of receptor-mediated endocytosis|regulation of receptor activity extracellular matrix|extracellular space|plasma membrane|platelet alpha granule lumen protease binding|serine-type endopeptidase inhibitor activity central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(3) 20 Lung NSC(181;0.136)|all_lung(186;0.182) Atorvastatin(DB01076)|Dimethyl sulfoxide(DB01093)|Drotrecogin alfa(DB00055)|Simvastatin(DB00641)|Tenecteplase(DB00031)|Troglitazone(DB00197)|Urokinase(DB00013) TGCCCCTTATGAAAAAGAGGT 0.567000 52 152 0 0 1 0 0 AGXT 189 broad.mit.edu 37 2 241808370 241808370 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:241808370C>T ENST00000307503.3 + 1 475 c.88C>T c.(88-90)Cct>Tct p.P30S NM_000030.2 NP_000021.1 P21549 SPYA_HUMAN alanine-glyoxylate aminotransferase 30 glyoxylate metabolic process|protein targeting to peroxisome mitochondrial matrix|peroxisomal matrix alanine-glyoxylate transaminase activity|protein homodimerization activity|pyridoxal phosphate binding|serine-pyruvate transaminase activity central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(9)|ovary(1)|prostate(1) 18 all_epithelial(40;1.61e-15)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15) Glycine(DB00145)|L-Alanine(DB00160)|L-Serine(DB00133)|Pyridoxal Phosphate(DB00114) GGGGCCTGGTCCTTCCAACCT 0.647000 5 119 0 0 1 0 0 FAT1 2195 broad.mit.edu 37 4 187541565 187541565 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:187541565G>A ENST00000441802.2 - 10 6384 c.6175C>T c.(6175-6177)Cct>Tct p.P2059S NM_005245.3 NP_005236.2 Q14517 FAT1_HUMAN FAT atypical cadherin 1 2059 Cadherin 18. actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4) 228 ACTGCAGAAGGCTTATGTTCC 0.507000 HNSCC(5;0.00058) 71 177 0 0 1 0 0 CLSTN1 22883 broad.mit.edu 37 1 9795114 9795114 + Missense_Mutation SNP A A T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:9795114A>T ENST00000377298.4 - 14 2794 c.2002T>A c.(2002-2004)Tct>Act p.S668T CLSTN1_ENST00000377288.3_Missense_Mutation_p.S649T|CLSTN1_ENST00000361311.4_Missense_Mutation_p.S658T NM_001009566.1 NP_001009566.1 O94985 CSTN1_HUMAN calsyntenin 1 668 homophilic cell adhesion cell junction|cell projection|endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nucleus|postsynaptic membrane calcium ion binding breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(9)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 36 all_lung(157;0.222) all_lung(284;4.03e-05)|Lung NSC(185;6.93e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;8.36e-08)|COAD - Colon adenocarcinoma(227;1.93e-05)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|STAD - Stomach adenocarcinoma(132;0.00644)|READ - Rectum adenocarcinoma(331;0.0419) TCAAATTCAGAAGCTGCTCGG 0.562000 17 323 0 0 1 0 0 OVCH1 341350 broad.mit.edu 37 12 29630127 29630127 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:29630127C>T ENST00000318184.5 - 12 1284 c.1285G>A c.(1285-1287)Ggg>Agg p.G429R OVCH1-AS1_ENST00000549411.1_Intron|OVCH1-AS1_ENST00000551108.1_Intron NM_183378.2 NP_899234.2 Q7RTY7 OVCH1_HUMAN ovochymase 1 429 CUB 2. proteolysis extracellular region metal ion binding|serine-type endopeptidase activity NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3) 92 Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155) TGATTTGTCCCTTCTTCTACC 0.448000 20 51 0 0 1 0 0 TBC1D10A 83874 broad.mit.edu 37 22 30689700 30689700 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr22:30689700G>A ENST00000215790.7 - 8 1154 c.990C>T c.(988-990)acC>acT p.T330T TBC1D10A_ENST00000403362.1_Silent_p.T242T|TBC1D10A_ENST00000403477.3_Silent_p.T337T|RP1-130H16.18_ENST00000447976.1_Silent_p.T204T NM_031937.2 NP_114143.1 Q9BXI6 TB10A_HUMAN TBC1 domain family, member 10A 330 intracellular|microvillus guanyl-nucleotide exchange factor activity|PDZ domain binding|Rab GTPase activator activity cervix(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 23 GTCGCTCGATGGTCTCGTACT 0.622000 42 81 0 0 1 0 0 F9 2158 broad.mit.edu 37 X 138633251 138633251 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chrX:138633251C>T ENST00000218099.2 + 6 558 c.551C>T c.(550-552)tCa>tTa p.S184L F9_ENST00000394090.2_Missense_Mutation_p.S146L NM_000133.3 NP_000124.1 P00740 FA9_HUMAN coagulation factor IX 184 blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis endoplasmic reticulum lumen|extracellular region|Golgi lumen|plasma membrane calcium ion binding|serine-type endopeptidase activity breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|skin(1) 35 Acute lymphoblastic leukemia(192;0.000127) Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Heparin(DB01109)|Menadione(DB00170) GTTTCTGTTTCACAAACTTCT 0.353000 49 18 0 0 1 0 0 ZNF208 7757 broad.mit.edu 37 19 22157242 22157242 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:22157242C>T ENST00000397126.4 - 4 742 c.594G>A c.(592-594)gaG>gaA p.E198E ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron NM_007153.3 NP_009084.2 zinc finger protein 208 breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 113 all_lung(12;0.0961)|Lung NSC(12;0.103) TGTAGGAATTCTCTCTAGTAT 0.358000 29 72 0 0 1 0 0 GPR128 84873 broad.mit.edu 37 3 100364865 100364865 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:100364865G>A ENST00000273352.3 + 9 1291 c.1023G>A c.(1021-1023)tcG>tcA p.S341S GPR128_ENST00000475887.1_Silent_p.S46S NM_032787.2 NP_116176.2 Q96K78 GP128_HUMAN G protein-coupled receptor 128 341 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 56 CAGCTAAATCGGATTTTAGTC 0.333000 25 55 0 0 1 0 0 AKAP11 11215 broad.mit.edu 37 13 42875672 42875672 + Missense_Mutation SNP A A C TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr13:42875672A>C ENST00000025301.2 + 8 2965 c.2790A>C c.(2788-2790)gaA>gaC p.E930D NM_016248.3 NP_057332.1 Q9UKA4 AKA11_HUMAN A kinase (PRKA) anchor protein 11 930 intracellular protein kinase cascade microtubule organizing center protein kinase A binding|protein phosphatase 1 binding breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(2) 56 Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114) OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19) AATGCAGTGAAGCTAGTAGCA 0.353000 35 63 0 0 1 0 0 NCAM1 4684 broad.mit.edu 37 11 113146066 113146066 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:113146066C>T ENST00000316851.7 + 18 2504 c.2504C>T c.(2503-2505)cCc>cTc p.P835L NCAM1_ENST00000397957.4_3'UTR NM_001242607.1|NM_181351.4 NP_001229536.1|NP_851996.2 P13591 NCAM1_HUMAN neural cell adhesion molecule 1 845 axon guidance|interferon-gamma-mediated signaling pathway anchored to membrane|extracellular region|Golgi membrane|integral to membrane breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1) 49 all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207) BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212) AAGACGGTCCCCAATGACGCC 0.517000 9 14 0 0 1 0 0 ALPK2 115701 broad.mit.edu 37 18 56204466 56204466 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr18:56204466G>A ENST00000361673.3 - 5 3166 c.2953C>T c.(2953-2955)Cct>Tct p.P985S RP11-1151B14.4_ENST00000591360.1_RNA NM_052947.3 NP_443179.3 Q86TB3 ALPK2_HUMAN alpha-kinase 2 985 ATP binding|protein serine/threonine kinase activity NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2) 84 TTCTCCCAAGGAAAACTCACA 0.473000 32 93 0 0 1 0 0 LILRA6 79168 broad.mit.edu 37 19 54744827 54744827 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:54744827C>T ENST00000440558.2 - 5 883 c.835G>A c.(835-837)Gcc>Acc p.A279T LILRA6_ENST00000396365.2_Missense_Mutation_p.A279T|LILRA6_ENST00000270464.5_Intron|LILRA6_ENST00000245621.5_Missense_Mutation_p.A279T|LILRB3_ENST00000407860.2_Intron|LILRA6_ENST00000391735.3_3'UTR|LILRA6_ENST00000419410.2_Missense_Mutation_p.A279T leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 6 central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(20)|ovary(3)|skin(2)|urinary_tract(2) 38 all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) GTGAAGTTGGCCTGGGAGAGC 0.647000 9 210 0 0 1 0 0 DFNB31 25861 broad.mit.edu 37 9 117185801 117185801 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:117185801G>A ENST00000362057.3 - 7 1587 c.1419C>T c.(1417-1419)ttC>ttT p.F473F DFNB31_ENST00000374059.3_Silent_p.F122F|DFNB31_ENST00000265134.6_Silent_p.F90F NM_001173425.1|NM_015404.3 NP_001166896.1|NP_056219.3 Q9P202 WHRN_HUMAN deafness, autosomal recessive 31 473 inner ear receptor stereocilium organization|retina homeostasis|sensory perception of light stimulus|sensory perception of sound cytoplasm|growth cone|stereocilium central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|ovary(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 AGAGGAGTGAGAACTGGAGGC 0.597000 12 88 0 0 1 0 0 ENO2 2026 broad.mit.edu 37 12 7031522 7031522 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:7031522C>T ENST00000535366.1 + 10 1818 c.1192C>T c.(1192-1194)Ccg>Tcg p.P398S ENO2_ENST00000544774.1_Missense_Mutation_p.P355S|ENO2_ENST00000545045.2_Missense_Mutation_p.P279S|ENO2_ENST00000538763.1_Missense_Mutation_p.P355S|ENO2_ENST00000541477.1_Missense_Mutation_p.P398S|ENO2_ENST00000534977.1_3'UTR|ENO2_ENST00000229277.1_Missense_Mutation_p.P398S P09104 ENOG_HUMAN enolase 2 (gamma, neuronal) 398 gluconeogenesis|glycolysis phosphopyruvate hydratase complex|plasma membrane magnesium ion binding|phosphopyruvate hydratase activity endometrium(3)|large_intestine(2)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 10 GACTGGTGCCCCGTGCCGTTC 0.552000 9 89 0 0 1 0 0 DRD5 1816 broad.mit.edu 37 4 9783912 9783912 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:9783912G>A ENST00000304374.2 + 1 655 c.259G>A c.(259-261)Gac>Aac p.D87N NM_000798.4 NP_000789.1 P21918 DRD5_HUMAN dopamine receptor D5 87 activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic integral to plasma membrane NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1) 57 Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624) GGCCGTGTCAGACCTTTTCGT 0.647000 25 63 0 0 1 0 0 DICER1 23405 broad.mit.edu 37 14 95566251 95566251 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr14:95566251G>A ENST00000526495.1 - 24 4363 c.4072C>T c.(4072-4074)Cgc>Tgc p.R1358C DICER1_ENST00000343455.3_Missense_Mutation_p.R1358C|DICER1_ENST00000393063.1_Missense_Mutation_p.R1358C|DICER1_ENST00000556045.1_Missense_Mutation_p.R256C|DICER1_ENST00000527414.1_Missense_Mutation_p.R1358C|DICER1_ENST00000541352.1_Missense_Mutation_p.R1358C Q9UPY3 DICER_HUMAN dicer 1, ribonuclease type III 1358 RNase III 1. negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference cytosol|RNA-induced silencing complex ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3) 75 all_cancers(154;0.0621)|all_epithelial(191;0.223) Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215) TTTCCAAGGCGATACAGATTA 0.398000 """Mis F, N""" """sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma""" pleuropulmonary blastoma Familial Multinodular Goiter ;DICER 1 syndrome 52 110 0 0 1 0 0 ATP1A4 480 broad.mit.edu 37 1 160156474 160156474 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:160156474G>A ENST00000368081.4 + 22 3546 c.3075G>A c.(3073-3075)agG>agA p.R1025R ATP1A4_ENST00000470705.1_Silent_p.R161R NM_144699.3 NP_653300.2 Q13733 AT1A4_HUMAN ATPase, Na+/K+ transporting, alpha 4 polypeptide 1025 ATP biosynthetic process|ATP hydrolysis coupled proton transport|regulation of cellular pH|sperm motility sodium:potassium-exchanging ATPase complex ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 75 all_cancers(52;2.56e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) GGGTGGAAAGGGAGACGTACT 0.522000 7 24 0 0 1 0 0 NRG1 3084 broad.mit.edu 37 8 32472039 32472039 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:32472039C>T ENST00000341377.5 + 4 925 c.408C>T c.(406-408)atC>atT p.I136I NRG1_ENST00000521670.1_Silent_p.I136I|NRG1_ENST00000338921.4_Silent_p.I136I|NRG1_ENST00000519301.1_Intron|NRG1_ENST00000523079.1_Silent_p.I136I|NRG1_ENST00000356819.4_Silent_p.I136I|NRG1_ENST00000287842.3_Silent_p.I136I|NRG1_ENST00000287845.5_Intron|NRG1_ENST00000405005.2_Silent_p.I136I|NRG1_ENST00000520407.1_Intron|NRG1_ENST00000287840.5_Silent_p.I136I Q02297 NRG1_HUMAN neuregulin 1 136 activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|Notch signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane cytokine activity|ErbB-3 class receptor binding|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1) 39 Breast(100;0.203) KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943) CAGAGATCATCACTGGTATGC 0.418000 29 70 0 0 1 0 0 PHOX2B 8929 broad.mit.edu 37 4 41748139 41748139 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:41748139C>T ENST00000226382.2 - 3 989 c.630G>A c.(628-630)gcG>gcA p.A210A NM_003924.3 NP_003915.2 Q99453 PHX2B_HUMAN paired-like homeobox 2b 210 positive regulation of transcription from RNA polymerase II promoter nuclear chromatin RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity autonomic_ganglia(7)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|skin(1)|urinary_tract(1) 30 cgccTCCATTCGCCCCGCAGC 0.756000 """Mis, F""" neuroblastoma neuroblastoma congenital central hypoventilation syndrome Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome 29 56 0 0 1 0 0 ARHGAP25 9938 broad.mit.edu 37 2 69046429 69046429 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:69046429G>A ENST00000295381.3 + 9 1594 c.1175G>A c.(1174-1176)aGg>aAg p.R392K ARHGAP25_ENST00000497079.1_Missense_Mutation_p.R386K|ARHGAP25_ENST00000409202.3_Missense_Mutation_p.R393K|ARHGAP25_ENST00000409220.1_Missense_Mutation_p.R386K|ARHGAP25_ENST00000479844.1_Missense_Mutation_p.R86K|ARHGAP25_ENST00000467265.1_Missense_Mutation_p.R353K|ARHGAP25_ENST00000409030.3_Missense_Mutation_p.R385K NM_001007231.2 NP_001007232.2 P42331 RHG25_HUMAN Rho GTPase activating protein 25 392 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(20)|ovary(3)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1) 52 CGAATTTCTAGGACAGACAGC 0.542000 29 131 0 0 1 0 0 MICU2 221154 broad.mit.edu 37 13 22095463 22095463 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr13:22095463G>A ENST00000382374.4 - 6 583 c.518C>T c.(517-519)cCc>cTc p.P173L NM_152726.2 NP_689939.1 mitochondrial calcium uptake 2 TCCAGAATGGGGTTCTGCAGT 0.313000 21 31 0 0 1 0 0 RGPD3 653489 broad.mit.edu 37 2 107040369 107040369 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:107040369C>T ENST00000409886.3 - 20 4141 c.4054G>A c.(4054-4056)Gaa>Aaa p.E1352K RGPD3_ENST00000304514.7_Missense_Mutation_p.E1352K NM_001144013.1 NP_001137485.1 A6NKT7 RGPD3_HUMAN RANBP2-like and GRIP domain containing 3 1352 RanBD1 2. intracellular transport binding breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2) 71 TGTTCATTTTCCTCACCACTG 0.368000 78 209 0 0 1 0 0 BZW2 28969 broad.mit.edu 37 7 16734528 16734528 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:16734528G>A ENST00000433922.2 + 8 899 c.721G>A c.(721-723)Gag>Aag p.E241K BZW2_ENST00000258761.3_Missense_Mutation_p.E241K|BZW2_ENST00000452975.2_3'UTR|BZW2_ENST00000407633.1_Missense_Mutation_p.E47K|BZW2_ENST00000405202.1_Missense_Mutation_p.E165K NM_001159767.1 NP_001153239.1 Q9Y6E2 BZW2_HUMAN basic leucine zipper and W2 domains 2 241 cell differentiation|nervous system development|RNA metabolic process protein binding cervix(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|skin(1)|urinary_tract(1) 15 Lung NSC(10;0.0367)|all_lung(11;0.0837) UCEC - Uterine corpus endometrioid carcinoma (126;0.199) AGGTCTTAAGGAGCTTTCCGA 0.483000 4 95 0 0 1 0 0 SPP2 6694 broad.mit.edu 37 2 234975211 234975211 + Nonsense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:234975211G>A ENST00000168148.3 + 5 567 c.479G>A c.(478-480)tGg>tAg p.W160* SPP2_ENST00000373368.1_Nonsense_Mutation_p.W160* NM_006944.2 NP_008875.1 Q13103 SPP24_HUMAN secreted phosphoprotein 2, 24kDa 160 bone remodeling|skeletal system development extracellular region endopeptidase inhibitor activity breast(1)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1) 12 Breast(86;0.0109)|Renal(207;0.019)|all_lung(227;0.13)|all_hematologic(139;0.182) Epithelial(121;5.73e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000166)|Lung(119;0.00539)|LUSC - Lung squamous cell carcinoma(224;0.00846) TCTCATAAATGGAGAAACAAT 0.308000 49 108 0 0 1 0 0 COL1A2 1278 broad.mit.edu 37 7 94039581 94039581 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:94039581G>A ENST00000297268.6 + 20 1534 c.1063G>A c.(1063-1065)Gga>Aga p.G355R NM_000089.3 NP_000080.2 P08123 CO1A2_HUMAN collagen, type I, alpha 2 355 axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway collagen type I|extracellular space|plasma membrane extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging COL1A2/PLAG1(3) NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 115 all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08) STAD - Stomach adenocarcinoma(171;0.0031) Collagenase(DB00048) TGGCTCCAAAGGAGAGAGCGG 0.433000 HNSCC(75;0.22) 14 71 0 0 1 0 0 MYH13 8735 broad.mit.edu 37 17 10216611 10216611 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:10216611C>T ENST00000418404.3 - 29 4208 c.4045G>A c.(4045-4047)Gaa>Aaa p.E1349K MYH13_ENST00000252172.4_Missense_Mutation_p.E1349K|MYH13_ENST00000570743.1_Missense_Mutation_p.E1349K Q9UKX3 MYH13_HUMAN myosin, heavy chain 13, skeletal muscle 1349 muscle contraction muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|microfilament motor activity p.E1349K(2) breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2) 108 TCATACTGTTCCCGCAGCAGG 0.592000 75 131 0 0 1 0 0 FAM46C 54855 broad.mit.edu 37 1 118166010 118166010 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:118166010C>T ENST00000369448.3 + 2 767 c.520C>T c.(520-522)Cgg>Tgg p.R174W NM_017709.3 NP_060179.2 Q5VWP2 FA46C_HUMAN family with sequence similarity 46, member C 174 endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1) 15 Lung SC(450;0.225) all_cancers(81;0.000101)|all_lung(203;3.4e-06)|all_epithelial(167;4.98e-06)|Lung NSC(69;2.33e-05) Lung(183;0.0576)|LUSC - Lung squamous cell carcinoma(189;0.192)|Colorectal(144;0.247) CGACTCCATTCGGCGTCAGTT 0.483000 """Mis, F, O""" MM Multiple Myeloma(3;1.13e-06) 64 102 0 0 1 0 0 RARG 5916 broad.mit.edu 37 12 53607418 53607418 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:53607418G>A ENST00000425354.2 - 8 1367 c.880C>T c.(880-882)Ctg>Ttg p.L294L RARG_ENST00000327550.3_Silent_p.L222L|RARG_ENST00000394426.1_Silent_p.L294L|RARG_ENST00000338561.5_Silent_p.L283L|RARG_ENST00000543726.1_Silent_p.L272L|RARG_ENST00000543762.1_5'UTR NM_000966.5 NP_000957.1 P13631 RARG_HUMAN retinoic acid receptor, gamma 294 Ligand-binding. canonical Wnt receptor signaling pathway|embryonic eye morphogenesis|embryonic hindlimb morphogenesis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter|regulation of cell size|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid integral to membrane|transcription factor complex retinoic acid receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding breast(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tazarotene(DB00799)|Tretinoin(DB00755) GTCCGGTTCAGGGTCAGCCCG 0.612000 OREG0021862 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 33 76 0 0 1 0 0 RSPH9 221421 broad.mit.edu 37 6 43618134 43618134 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:43618134C>T ENST00000372165.4 + 2 303 c.250C>T c.(250-252)Ctc>Ttc p.L84F RSPH9_ENST00000372163.4_Missense_Mutation_p.L84F NM_001193341.1 NP_001180270.1 Q9H1X1 RSPH9_HUMAN radial spoke head 9 homolog (Chlamydomonas) 84 cilium axoneme assembly|cilium movement cytoplasm|cytoskeleton NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 12 AGAGTGGAGCCTCTTGCCCCC 0.532000 Kartagener syndrome 18 58 0 0 1 0 0 SCN10A 6336 broad.mit.edu 37 3 38802845 38802845 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:38802845G>A ENST00000449082.2 - 6 720 c.721C>T c.(721-723)Cac>Tac p.H241Y NM_006514.2 NP_006505.2 Q9Y5Y9 SCNAA_HUMAN sodium channel, voltage-gated, type X, alpha subunit 241 sensory perception voltage-gated sodium channel complex p.H241Y(1) NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 150 KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945) Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296) TTCACTGAGTGAATCAGGGCC 0.507000 16 41 0 0 1 0 0 C5 727 broad.mit.edu 37 9 123768264 123768264 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:123768264G>A ENST00000223642.1 - 20 2524 c.2495C>T c.(2494-2496)tCt>tTt p.S832F C5_ENST00000466280.1_5'UTR NM_001735.2 NP_001726.2 P01031 CO5_HUMAN complement component 5 832 activation of MAPK activity|chemotaxis|complement activation, alternative pathway|complement activation, classical pathway|cytolysis|G-protein coupled receptor protein signaling pathway|inflammatory response|negative regulation of macrophage chemotaxis|positive regulation of chemokine secretion|positive regulation vascular endothelial growth factor production extracellular space|membrane attack complex chemokine activity|endopeptidase inhibitor activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(14)|lung(5)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 46 OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242) Eculizumab(DB01257) TCGTACAACAGAATATGGTAT 0.388000 41 84 0 0 1 0 0 FAAH2 158584 broad.mit.edu 37 X 57515197 57515197 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chrX:57515197C>T ENST00000374900.4 + 11 1551 c.1431C>T c.(1429-1431)ttC>ttT p.F477F FAAH2_ENST00000491179.1_3'UTR NM_174912.3 NP_777572.2 Q6GMR7 FAAH2_HUMAN fatty acid amide hydrolase 2 477 integral to membrane carbon-nitrogen ligase activity, with glutamine as amido-N-donor|hydrolase activity endometrium(2)|large_intestine(4)|lung(10)|ovary(3)|upper_aerodigestive_tract(3) 22 CAGGTGTCTTCAGTGCCCTGG 0.408000 HNSCC(52;0.14) 18 8 0 0 1 0 0 TAS1R2 80834 broad.mit.edu 37 1 19166912 19166912 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:19166912G>A ENST00000375371.3 - 6 1722 c.1701C>T c.(1699-1701)atC>atT p.I567I NM_152232.2 NP_689418.2 Q8TE23 TS1R2_HUMAN taste receptor, type 1, member 2 567 detection of chemical stimulus involved in sensory perception of sweet taste plasma membrane protein heterodimerization activity|taste receptor activity p.I567I(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1) 45 Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649) Aspartame(DB00168) GGGCCACAGCGATGGTGGGTG 0.617000 34 86 0 0 1 0 0 ITGAD 3681 broad.mit.edu 37 16 31422168 31422168 + Nonsense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr16:31422168G>A ENST00000389202.2 + 12 1374 c.1325G>A c.(1324-1326)tGg>tAg p.W442* NM_005353.2 NP_005344.2 Q13349 ITAD_HUMAN integrin, alpha D 442 cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway integrin complex receptor activity breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 71 TCCAGGCAATGGAGGAAGAAG 0.652000 31 58 0 0 1 0 0 ZNF28 7576 broad.mit.edu 37 19 53311261 53311261 + Splice_Site SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:53311261C>T ENST00000457749.2 - 3 260 c.142_splice c.e3+1 p.L47_splice ZNF28_ENST00000464469.2_5'UTR|ZNF28_ENST00000414252.2_Intron|ZNF28_ENST00000594602.1_Splice_Site_p.L47_splice|ZNF28_ENST00000339844.6_Splice_Site_p.L11_splice|ZNF28_ENST00000360272.4_5'UTR NM_006969.3 NP_008900.3 P17035 ZNF28_HUMAN zinc finger protein 28 47 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145) TATCCTCACCCAGGGAGACCA 0.488000 14 206 0 0 1 0 0 LRCH4 4034 broad.mit.edu 37 7 100173924 100173924 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:100173924G>A ENST00000310300.6 - 15 1627 c.1575C>T c.(1573-1575)gtC>gtT p.V525V LRCH4_ENST00000497245.1_Silent_p.V73V NM_002319.3 NP_002310.2 O75427 LRCH4_HUMAN leucine-rich repeats and calponin homology (CH) domain containing 4 525 nervous system development PML body protein binding NS(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 23 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) GAGGTCTCAGGACAGAGTCTG 0.637000 18 89 0 0 1 0 0 WNT7A 7476 broad.mit.edu 37 3 13860698 13860698 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:13860698C>T ENST00000285018.4 - 4 1097 c.793G>A c.(793-795)Gac>Aac p.D265N NM_004625.3 NP_004616.2 O00755 WNT7A_HUMAN wingless-type MMTV integration site family, member 7A 265 activation of JUN kinase activity|anterior/posterior pattern formation|canonical Wnt receptor signaling pathway|cell proliferation in forebrain|cellular response to transforming growth factor beta stimulus|central nervous system vasculogenesis|cerebellar granule cell differentiation|dorsal/ventral pattern formation|embryonic axis specification|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic leg morphogenesis|lens fiber cell development|negative regulation of neurogenesis|palate development|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of JNK cascade|positive regulation of synaptogenesis|positive regulation of transcription from RNA polymerase II promoter|regulation of axon diameter|satellite cell activation|satellite cell maintenance involved in skeletal muscle regeneration|sex differentiation|uterus development|Wnt receptor signaling pathway involved in wound healing, spreading of epidermal cells|Wnt receptor signaling pathway, calcium modulating pathway extracellular space|plasma membrane|proteinaceous extracellular matrix cytokine activity|frizzled binding|receptor agonist activity|signal transducer activity NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1) 24 AGGTCCGTGTCCATGGGCTTG 0.637000 62 134 0 0 1 0 0 ZNF611 81856 broad.mit.edu 37 19 53208978 53208978 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:53208978G>A ENST00000543227.1 - 6 1604 c.1330C>T c.(1330-1332)Cat>Tat p.H444Y ZNF611_ENST00000602162.1_Missense_Mutation_p.H375Y|ZNF611_ENST00000540744.1_Missense_Mutation_p.H444Y|ZNF611_ENST00000595798.1_Missense_Mutation_p.H375Y|ZNF611_ENST00000319783.1_Missense_Mutation_p.H444Y|ZNF611_ENST00000453741.2_Missense_Mutation_p.H375Y NM_001161499.1 NP_001154971.1 Q8N823 ZN611_HUMAN zinc finger protein 611 444 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 OV - Ovarian serous cystadenocarcinoma(262;0.0233)|GBM - Glioblastoma multiforme(134;0.04) AGTCTATGATGGCATACAAGG 0.393000 10 262 0 0 1 0 0 LOC286238 286238 broad.mit.edu 37 9 91262462 91262462 + RNA SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:91262462C>T ENST00000418343.2 - 0 289 GTTATCATCTCTCCTGTTTTG 0.433000 40 110 0 0 1 0 0 ZNF365 22891 broad.mit.edu 37 10 64159341 64159341 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:64159341C>T ENST00000395254.3 + 5 1297 c.1017C>T c.(1015-1017)ttC>ttT p.F339F ZNF365_ENST00000395255.3_Intron|ZNF365_ENST00000410046.3_Intron|ZNF365_ENST00000466727.1_3'UTR NM_014951.2 NP_055766.2 Q70YC4 TALAN_HUMAN zinc finger protein 365 0 breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 27 Prostate(12;0.0297)|all_hematologic(501;0.228) AGGCCCATTTCCACCCAAAGG 0.557000 95 140 0 0 1 0 0 CHST3 9469 broad.mit.edu 37 10 73767340 73767340 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:73767340C>T ENST00000373115.4 + 3 988 c.551C>T c.(550-552)tCg>tTg p.S184L NM_004273.4 NP_004264.2 Q7LGC8 CHST3_HUMAN carbohydrate (chondroitin 6) sulfotransferase 3 184 chondroitin sulfate biosynthetic process Golgi membrane|integral to membrane chondroitin 6-sulfotransferase activity endometrium(1)|lung(5) 6 GCCGCGGGCTCGGCCCTGGTG 0.642000 13 29 0 0 1 0 0 TTC21A 199223 broad.mit.edu 37 3 39169943 39169943 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:39169943C>T ENST00000301819.6 + 13 1845 c.1668C>T c.(1666-1668)ttC>ttT p.F556F TTC21A_ENST00000440121.1_Silent_p.F507F|TTC21A_ENST00000431162.2_Silent_p.F555F NM_145755.2 NP_665698.2 Q8NDW8 TT21A_HUMAN tetratricopeptide repeat domain 21A 555 binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(23)|ovary(1)|prostate(1)|skin(3) 50 KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738) GCATGTGCTTCCACTGCTTAG 0.592000 41 81 0 0 1 0 0 THEMIS 387357 broad.mit.edu 37 6 128151027 128151027 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:128151027G>A ENST00000368250.1 - 4 564 c.66C>T c.(64-66)atC>atT p.I22I THEMIS_ENST00000368248.2_Silent_p.I101I|THEMIS_ENST00000537166.1_Silent_p.I66I|THEMIS_ENST00000543064.1_Silent_p.I101I Q8N1K5 THMS1_HUMAN thymocyte selection associated 101 CABIT 1. negative T cell selection|positive T cell selection|T cell receptor signaling pathway cytoplasm|nucleus breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3) 60 TGGTCCTTGTGATTTCTTCCA 0.368000 25 71 0 0 1 0 0 PLCE1 51196 broad.mit.edu 37 10 95791456 95791456 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:95791456C>T ENST00000260766.3 + 2 1287 c.653C>T c.(652-654)cCa>cTa p.P218L PLCE1_ENST00000371380.2_Missense_Mutation_p.P218L NM_016341.3 NP_057425.3 Q9P212 PLCE1_HUMAN phospholipase C, epsilon 1 218 activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction cytosol|Golgi membrane|membrane fraction|plasma membrane calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1) 8 Colorectal(252;0.0458) AATTGTGTACCACTACCTGGG 0.368000 21 57 0 0 1 0 0 MROH8 140699 broad.mit.edu 37 20 35766242 35766242 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr20:35766242G>A ENST00000400441.3 - 13 1619 c.1620C>T c.(1618-1620)ttC>ttT p.F540F MROH8_ENST00000217333.8_Silent_p.F369F|MROH8_ENST00000441008.2_Silent_p.F526F maestro heat-like repeat family member 8 GACACAGAAGGAAGCTGAGCA 0.428000 8 19 0 0 1 0 0 ZNF221 7638 broad.mit.edu 37 19 44466906 44466906 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:44466906C>T ENST00000251269.5 + 3 356 c.28C>T c.(28-30)Cat>Tat p.H10Y ZNF221_ENST00000592350.1_Missense_Mutation_p.H10Y|ZNF221_ENST00000587682.1_Missense_Mutation_p.H10Y NM_013359.2 NP_037491.2 Q9UK13 ZN221_HUMAN zinc finger protein 221 10 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(11)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 30 Prostate(69;0.0352) TGAACTGCTTCATTCAGGACT 0.428000 32 58 0 0 1 0 0 MYOF 26509 broad.mit.edu 37 10 95093027 95093027 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:95093027C>T ENST00000371501.4 - 43 4884 c.4762G>A c.(4762-4764)Gaa>Aaa p.E1588K MYOF_ENST00000359263.4_Missense_Mutation_p.E1588K|MYOF_ENST00000358334.5_Missense_Mutation_p.E1575K|MYOF_ENST00000371502.4_Missense_Mutation_p.E1607K Q9NZM1 MYOF_HUMAN myoferlin 1588 C2 5. blood circulation|muscle contraction|plasma membrane repair caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane phospholipid binding|protein binding NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 67 TCTCGGTCTTCAATGACTTTT 0.413000 38 83 0 0 1 0 0 DNAH2 146754 broad.mit.edu 37 17 7667534 7667534 + Silent SNP T T A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:7667534T>A ENST00000572933.1 + 20 4739 c.3279T>A c.(3277-3279)ccT>ccA p.P1093P DNAH2_ENST00000389173.2_Silent_p.P1093P Q9P225 DYH2_HUMAN dynein, axonemal, heavy chain 2 1093 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1) 189 all_cancers(10;4.66e-07)|Prostate(122;0.081) CTCAGATCCCTCCCATACACG 0.557000 58 95 0 0 1 0 0 GYS2 2998 broad.mit.edu 37 12 21693398 21693398 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:21693398C>T ENST00000261195.2 - 14 2009 c.1755G>A c.(1753-1755)caG>caA p.Q585Q NM_021957.3 NP_068776.2 P54840 GYS2_HUMAN glycogen synthase 2 (liver) 585 glucose metabolic process|glycogen biosynthetic process|response to glucose stimulus cortical actin cytoskeleton|cytosol|ectoplasm|insoluble fraction|soluble fraction glycogen (starch) synthase activity|protein homodimerization activity NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(14)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 48 TTCTGTTCCTCTGGATAATCC 0.438000 70 225 0 0 1 0 0 SLC22A8 9376 broad.mit.edu 37 11 62760952 62760952 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:62760952G>A ENST00000336232.2 - 10 1608 c.1473C>T c.(1471-1473)ttC>ttT p.F491F SLC22A8_ENST00000545207.1_Silent_p.F400F|SLC22A8_ENST00000430500.2_Silent_p.F491F|SLC22A8_ENST00000535878.1_Silent_p.F368F|SLC22A8_ENST00000311438.8_Silent_p.F491F NM_001184732.1|NM_001184736.1|NM_004254.3 NP_001171661.1|NP_001171665.1|NP_004245.2 Q8TCC7 S22A8_HUMAN solute carrier family 22 (organic anion transporter), member 8 491 response to toxin basolateral plasma membrane|integral to plasma membrane|membrane fraction inorganic anion exchanger activity|organic anion transmembrane transporter activity endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 28 TCTCAGGCAGGAAGAGGGCAG 0.592000 50 128 0 0 1 0 0 PCDH18 54510 broad.mit.edu 37 4 138453061 138453061 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:138453061G>A ENST00000344876.4 - 1 568 c.182C>T c.(181-183)cCt>cTt p.P61L PCDH18_ENST00000511115.1_Intron|PCDH18_ENST00000510305.1_Intron|PCDH18_ENST00000507846.1_Intron|PCDH18_ENST00000412923.2_Missense_Mutation_p.P61L NM_019035.3 NP_061908.1 Q9HCL0 PCD18_HUMAN protocadherin 18 61 Cadherin 1. brain development|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 86 all_hematologic(180;0.24) AACAGTAGAAGGATTAGGAAG 0.413000 36 87 0 0 1 0 0 UBIAD1 29914 broad.mit.edu 37 1 11345811 11345811 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:11345811C>T ENST00000376810.5 + 2 966 c.640C>T c.(640-642)Cca>Tca p.P214S UBIAD1_ENST00000376804.2_Intron NM_013319.2 NP_037451.1 Q9Y5Z9 UBIA1_HUMAN UbiA prenyltransferase domain containing 1 214 menaquinone biosynthetic process endoplasmic reticulum membrane|integral to membrane|mitochondrion|nucleus prenyltransferase activity endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(3) 12 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.000818)|all_lung(284;0.00105)|Colorectal(325;0.0062)|Breast(348;0.012)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.52e-06)|COAD - Colon adenocarcinoma(227;0.000254)|BRCA - Breast invasive adenocarcinoma(304;0.000299)|Kidney(185;0.000754)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0487) GGCCATCTTCCCACTGGTCTA 0.602000 57 105 0 0 1 0 0 NOL6 65083 broad.mit.edu 37 9 33465810 33465810 + Missense_Mutation SNP G G A rs147925131 TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:33465810G>A ENST00000379471.2 - 19 2537 c.2450C>T c.(2449-2451)tCg>tTg p.S817L NOL6_ENST00000455041.2_Missense_Mutation_p.S765L|NOL6_ENST00000464829.1_Intron Q9H6R4 NOL6_HUMAN nucleolar protein 6 (RNA-associated) 817 rRNA processing condensed nuclear chromosome|nucleolus RNA binding endometrium(4)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|skin(2) 27 LUSC - Lung squamous cell carcinoma(29;0.00788) GBM - Glioblastoma multiforme(74;0.152) GTCCCTCAGCGAGATCATCCC 0.592000 5 42 0 0 1 0 0 HSD17B2 3294 broad.mit.edu 37 16 82124590 82124590 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr16:82124590C>T ENST00000199936.4 + 4 941 c.748C>T c.(748-750)Ctt>Ttt p.L250F RP11-510J16.5_ENST00000567021.1_RNA NM_002153.2 NP_002144.1 P37059 DHB2_HUMAN hydroxysteroid (17-beta) dehydrogenase 2 250 response to retinoic acid|steroid biosynthetic process endoplasmic reticulum membrane|integral to membrane 17-alpha,20-alpha-dihydroxypregn-4-en-3-one dehydrogenase activity|binding|estradiol 17-beta-dehydrogenase activity|testosterone 17-beta-dehydrogenase (NAD+) activity breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|upper_aerodigestive_tract(1) 10 NADH(DB00157) GAGACTGGAGCTTTCCAAGTG 0.488000 24 31 0 0 1 0 0 MYO15A 51168 broad.mit.edu 37 17 18023377 18023377 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:18023377C>T ENST00000205890.5 + 2 1601 c.1263C>T c.(1261-1263)ccC>ccT p.P421P NM_016239.3 NP_057323.3 Q9UKN7 MYO15_HUMAN myosin XVA 421 Myosin head-like. sensory perception of sound cytoplasm|myosin complex|stereocilium actin binding|ATP binding|calmodulin binding|motor activity breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 99 all_neural(463;0.228) TCCCGTCGCCCCACAACCCGT 0.667000 5 129 0 0 1 0 0 LPO 4025 broad.mit.edu 37 17 56329569 56329569 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:56329569G>A ENST00000262290.4 + 8 1123 c.807G>A c.(805-807)ggG>ggA p.G269G LPO_ENST00000421678.2_Silent_p.G186G|LPO_ENST00000543544.1_Silent_p.G210G|LPO_ENST00000582328.1_Silent_p.G186G NM_006151.2 NP_006142.1 P22079 PERL_HUMAN lactoperoxidase 269 hydrogen peroxide catabolic process extracellular space heme binding|peroxidase activity breast(5)|cervix(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 30 CCAAGGCGGGGACTCAAGGGA 0.607000 5 122 0 0 1 0 0 EDIL3 10085 broad.mit.edu 37 5 83259134 83259134 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:83259134C>T ENST00000296591.5 - 10 1601 c.1183G>A c.(1183-1185)Gga>Aga p.G395R EDIL3_ENST00000380138.3_Missense_Mutation_p.G385R NM_005711.3 NP_005702.3 O43854 EDIL3_HUMAN EGF-like repeats and discoidin I-like domains 3 395 F5/8 type C 2. cell adhesion|multicellular organismal development extracellular region calcium ion binding|integrin binding cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(5)|skin(3) 31 Lung NSC(167;0.000121)|all_lung(232;0.000154)|Ovarian(174;0.0425) OV - Ovarian serous cystadenocarcinoma(54;4.3e-40)|Epithelial(54;4.79e-32)|all cancers(79;1.54e-26) TCTTTAGCTCCTTGTGTAATG 0.393000 36 74 0 0 1 0 0 CRB1 23418 broad.mit.edu 37 1 197446962 197446962 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:197446962G>A ENST00000367400.3 + 12 4309 c.4174G>A c.(4174-4176)Gaa>Aaa p.E1392K CRB1_ENST00000544212.1_Missense_Mutation_p.E873K|CRB1_ENST00000367399.2_Missense_Mutation_p.E1280K|CRB1_ENST00000538660.1_Missense_Mutation_p.E856K|CRB1_ENST00000535699.1_Missense_Mutation_p.E1368K NM_201253.2 NP_957705.1 P82279 CRUM1_HUMAN crumbs homolog 1 (Drosophila) 1392 cell-cell signaling|establishment or maintenance of cell polarity apical plasma membrane|extracellular region|integral to membrane calcium ion binding|protein binding NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2) 132 CTCCCGAGTGGAAATGTGGAA 0.537000 44 87 0 0 1 0 0 CUBN 8029 broad.mit.edu 37 10 16911788 16911788 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:16911788C>T ENST00000377833.4 - 59 9366 c.9301G>A c.(9301-9303)Ggt>Agt p.G3101S NM_001081.3 NP_001072.2 O60494 CUBN_HUMAN cubilin (intrinsic factor-cobalamin receptor) 3101 CUB 23. cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8) 241 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) GTATTGGCACCATCGTAAATT 0.468000 41 83 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9069483 9069483 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:9069483C>T ENST00000397910.4 - 3 18166 c.17963G>A c.(17962-17964)aGc>aAc p.S5988N NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 5990 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 ACCTGAGAAGCTACTTGCACT 0.473000 73 125 0 0 1 0 0 CR1L 1379 broad.mit.edu 37 1 207867846 207867846 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:207867846C>T ENST00000508064.2 + 5 672 c.612C>T c.(610-612)tcC>tcT p.S204S CR1L_ENST00000530905.1_Intron NM_175710.1 NP_783641.1 Q2VPA4 CR1L_HUMAN complement component (3b/4b) receptor 1-like 204 Sushi 3. cytoplasm|extracellular region|membrane endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 22 GTGAGCCCTCCATATACTGCA 0.488000 21 319 0 0 1 0 0 ASMT 438 broad.mit.edu 37 X 1755406 1755406 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chrX:1755406G>A ENST00000381241.3 + 8 1062 c.863G>A c.(862-864)gGa>gAa p.G288E ASMT_ENST00000381229.4_Missense_Mutation_p.G260E|ASMT_ENST00000381233.3_Missense_Mutation_p.G213E NM_001171038.1|NM_004043.2 NP_001164509.1|NP_004034.2 P46597 HIOM_HUMAN acetylserotonin O-methyltransferase 260 melatonin biosynthetic process|translation cytosol acetylserotonin O-methyltransferase activity|S-methyltransferase activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|skin(1) 16 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) TGGGCAGACGGAAAGTGCTCA 0.552000 7 261 0 0 1 0 0 SEL1L3 23231 broad.mit.edu 37 4 25760663 25760663 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:25760663C>T ENST00000399878.3 - 21 3105 c.2983G>A c.(2983-2985)Gag>Aag p.E995K SEL1L3_ENST00000264868.5_Missense_Mutation_p.E960K|SEL1L3_ENST00000502949.1_Missense_Mutation_p.E842K NM_015187.3 NP_056002.2 Q68CR1 SE1L3_HUMAN sel-1 suppressor of lin-12-like 3 (C. elegans) 995 integral to membrane binding breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2) 14 GTACCTTCCTCGATTAGCAGG 0.393000 47 94 0 0 1 0 0 HELZ 9931 broad.mit.edu 37 17 65105355 65105355 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:65105355G>A ENST00000358691.5 - 29 4532 c.4366C>T c.(4366-4368)Ccc>Tcc p.P1456S HELZ_ENST00000580168.1_Missense_Mutation_p.P1457S NM_014877.3 NP_055692.2 helicase with zinc finger NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13) TGCAGCATGGGAGGGGGCTGC 0.532000 32 109 0 0 1 0 0 CACNA2D2 9254 broad.mit.edu 37 3 50413089 50413089 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:50413089C>T ENST00000435965.1 - 21 2066 c.1893G>A c.(1891-1893)agG>agA p.R631R CACNA2D2_ENST00000479441.1_Silent_p.R631R|CACNA2D2_ENST00000429770.1_Silent_p.R631R|CACNA2D2_ENST00000395083.1_Silent_p.R631R|CACNA2D2_ENST00000423994.2_Silent_p.R631R|CACNA2D2_ENST00000424201.2_Silent_p.R631R|CACNA2D2_ENST00000360963.3_Silent_p.R562R|CACNA2D2_ENST00000266039.3_Silent_p.R631R Q9NY47 CA2D2_HUMAN calcium channel, voltage-dependent, alpha 2/delta subunit 2 631 energy reserve metabolic process|regulation of insulin secretion integral to membrane|plasma membrane calcium channel activity|metal ion binding|voltage-gated ion channel activity breast(3)|cervix(1)|endometrium(4)|large_intestine(4)|lung(8)|ovary(2)|prostate(4)|skin(4)|urinary_tract(1) 31 BRCA - Breast invasive adenocarcinoma(193;0.000365)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01) Gabapentin(DB00996) AGTTAGTGCTCCTTATAGGCA 0.622000 53 88 0 0 1 0 0 OTOF 9381 broad.mit.edu 37 2 26684741 26684741 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:26684741C>T ENST00000272371.2 - 43 5482 c.5356G>A c.(5356-5358)Gag>Aag p.E1786K OTOF_ENST00000339598.3_Missense_Mutation_p.E1019K|OTOF_ENST00000402415.3_Missense_Mutation_p.E1096K|OTOF_ENST00000338581.6_Missense_Mutation_p.E1019K|OTOF_ENST00000403946.3_Missense_Mutation_p.E1786K NM_194248.2 NP_919224.1 Q9HC10 OTOF_HUMAN otoferlin 1786 cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane calcium ion binding NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 106 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) AAGTTGCCCTCGCCAGTGAGG 0.612000 41 143 0 0 1 0 0 ZNF177 7730 broad.mit.edu 37 19 9491742 9491742 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:9491742C>T ENST00000434737.2 + 5 791 c.735C>T c.(733-735)gtC>gtT p.V245V ZNF177_ENST00000590616.1_Intron|ZNF177_ENST00000602856.1_3'UTR|ZNF177_ENST00000541595.2_Intron|ZNF177_ENST00000602738.1_Intron|ZNF177_ENST00000589262.1_Silent_p.V245V|ZNF177_ENST00000446085.4_3'UTR|ZNF177_ENST00000343499.4_Intron Q13360 ZN177_HUMAN zinc finger protein 177 253 negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|stomach(2) 13 CCCTTAGTGTCCACACAAAAA 0.448000 17 34 0 0 1 0 0 CLEC4F 165530 broad.mit.edu 37 2 71043972 71043972 + Nonsense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:71043972G>A ENST00000272367.2 - 4 617 c.541C>T c.(541-543)Cag>Tag p.Q181* CLEC4F_ENST00000426626.1_Nonsense_Mutation_p.Q181* NM_001258027.1|NM_173535.2 NP_001244956.1|NP_775806.2 Q8N1N0 CLC4F_HUMAN C-type lectin domain family 4, member F 181 endocytosis integral to membrane receptor activity|sugar binding endometrium(1)|large_intestine(5)|lung(18)|ovary(5)|prostate(5)|skin(1)|upper_aerodigestive_tract(2) 37 TTGAGCCTCTGGATCTCAGCA 0.438000 34 71 0 0 1 0 0 OTOGL 283310 broad.mit.edu 37 12 80651781 80651781 + Splice_Site SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:80651781C>T ENST00000458043.2 + 17 1867 c.1862_splice c.e17+1 p.L621_splice OTOGL_ENST00000547103.1_Splice_Site_p.L621_splice NM_173591.3 NP_775862.3 otogelin-like breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1) 23 GGATGATTTTCTGTAAGTATG 0.308000 15 35 0 0 1 0 0 NOS1 4842 broad.mit.edu 37 12 117710349 117710349 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:117710349C>T ENST00000317775.6 - 10 2365 c.1680G>A c.(1678-1680)aaG>aaA p.K560K NOS1_ENST00000344089.3_3'UTR|NOS1_ENST00000338101.4_Silent_p.K560K NM_000620.4|NM_001204218.1 NP_000611.1|NP_001191147.1 P29475 NOS1_HUMAN nitric oxide synthase 1 (neuronal) 560 multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 117 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) BRCA - Breast invasive adenocarcinoma(302;0.0561) L-Citrulline(DB00155) GCCCCAGGTCCTTGAACCACT 0.597000 31 47 0 0 1 0 0 DDX58 23586 broad.mit.edu 37 9 32500875 32500875 + Missense_Mutation SNP A A G TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:32500875A>G ENST00000379883.2 - 2 326 c.169T>C c.(169-171)Ttt>Ctt p.F57L DDX58_ENST00000542096.1_5'UTR|DDX58_ENST00000379882.1_Intron|DDX58_ENST00000545044.1_5'UTR|DDX58_ENST00000379868.1_5'UTR NM_014314.3 NP_055129.2 O95786 DDX58_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 58 57 CARD 1. detection of virus|innate immune response|negative regulation of type I interferon production|positive regulation of defense response to virus by host|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter cytosol ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|protein binding|zinc ion binding autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(9)|ovary(2)|pancreas(1)|prostate(1) 27 LUSC - Lung squamous cell carcinoma(29;0.00813) GBM - Glioblastoma multiforme(74;0.00056) AACTTGAGAAAAAGTGTGGCA 0.448000 9 61 0 0 1 0 0 ZCCHC5 203430 broad.mit.edu 37 X 77912694 77912694 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chrX:77912694C>T ENST00000321110.1 - 2 1519 c.1224G>A c.(1222-1224)gaG>gaA p.E408E NM_152694.2 NP_689907.1 Q8N8U3 ZCHC5_HUMAN zinc finger, CCHC domain containing 5 408 nucleic acid binding|zinc ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)|prostate(1)|skin(1) 37 GTCCATCTCCCTCTGCAGAGG 0.522000 46 25 0 0 1 0 0 TPH2 121278 broad.mit.edu 37 12 72425454 72425454 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:72425454G>A ENST00000333850.3 + 11 1593 c.1452G>A c.(1450-1452)atG>atA p.M484I NM_173353.3 NP_775489.2 Q8IWU9 TPH2_HUMAN tryptophan hydroxylase 2 484 aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process cytosol amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 41 L-Tryptophan(DB00150) TAAACAAAATGAACCAATATC 0.403000 43 140 0 0 1 0 0 SLAMF6 114836 broad.mit.edu 37 1 160466077 160466077 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:160466077G>A ENST00000368059.3 - 2 225 c.156C>T c.(154-156)ttC>ttT p.F52F SLAMF6_ENST00000368055.1_Intron|SLAMF6_ENST00000368057.3_Silent_p.F52F NM_001184714.1|NM_001184715.1|NM_001184716.1|NM_052931.4 NP_001171643.1|NP_001171644.1|NP_001171645.1|NP_443163.1 Q96DU3 SLAF6_HUMAN SLAM family member 6 52 integral to membrane|plasma membrane receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(4) 22 all_cancers(52;1.05e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.0923) GCCAAGTGATGAAGTTGACCT 0.463000 111 334 0 0 1 0 0 DUS1L 64118 broad.mit.edu 37 17 80018797 80018797 + Missense_Mutation SNP C C T rs144913344 by1000genomes TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:80018797C>T ENST00000354321.7 - 8 1368 c.883G>A c.(883-885)Gtg>Atg p.V295M DUS1L_ENST00000306796.5_Missense_Mutation_p.V295M Q6P1R4 DUS1L_HUMAN dihydrouridine synthase 1-like (S. cerevisiae) 295 tRNA processing flavin adenine dinucleotide binding|tRNA dihydrouridine synthase activity breast(1)|endometrium(1)|lung(2)|ovary(1)|skin(1) 6 all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246) BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0211) AGGGTCTTCACCTTGGCCAGC 0.692000 22 61 0 0 1 0 0 AP1AR 55435 broad.mit.edu 37 4 113189382 113189382 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:113189382G>A ENST00000274000.5 + 10 1081 c.726G>A c.(724-726)aaG>aaA p.K242K AP1AR_ENST00000309703.6_Silent_p.K209K NM_018569.4 NP_061039.3 Q63HQ0 AP1AR_HUMAN adaptor-related protein complex 1 associated regulatory protein 242 protein transport early endosome|Golgi apparatus|late endosome|transport vesicle NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2) 9 ATAGCAACAAGAAGACTGGAA 0.408000 33 70 0 0 1 0 0 CEP57 9702 broad.mit.edu 37 11 95555040 95555040 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:95555040G>A ENST00000325542.5 + 7 943 c.705G>A c.(703-705)caG>caA p.Q235Q CEP57_ENST00000538658.1_Silent_p.Q235Q|CEP57_ENST00000325486.5_Silent_p.Q235Q|CEP57_ENST00000541150.1_Silent_p.Q226Q|CEP57_ENST00000537677.1_Silent_p.Q208Q NM_001243776.1|NM_014679.4 NP_001230705.1|NP_055494.2 Q86XR8 CEP57_HUMAN centrosomal protein 57kDa 235 centrosome localization domain (CLD) (By similarity). fibroblast growth factor receptor signaling pathway|G2/M transition of mitotic cell cycle|protein import into nucleus, translocation|spermatid development centrosome|cytosol|Golgi apparatus|microtubule|nucleus fibroblast growth factor binding|protein homodimerization activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|prostate(1) 13 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824) CCTAGTTGCAGACTGGTCTAG 0.353000 Mosaic Variegated Aneuploidy Syndrome 9 18 0 0 1 0 0 THRB 7068 broad.mit.edu 37 3 24185105 24185105 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:24185105C>T ENST00000396671.2 - 8 973 c.625G>A c.(625-627)Ggg>Agg p.G209R THRB_ENST00000356447.4_Missense_Mutation_p.G209R|THRB_ENST00000280696.5_Missense_Mutation_p.G224R|THRB_ENST00000416420.1_Missense_Mutation_p.G209R NM_001128176.2 NP_001121648.1 P10828 THB_HUMAN thyroid hormone receptor, beta 209 regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm enzyme binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription corepressor activity|zinc ion binding central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(6)|pancreas(2)|prostate(1)|skin(3) 19 Levothyroxine(DB00451)|Liothyronine(DB00279) GGCTTGTGCCCGATGGACTTC 0.582000 15 183 0 0 1 0 0 MIPOL1 145282 broad.mit.edu 37 14 37969297 37969297 + Nonsense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr14:37969297C>T ENST00000327441.7 + 13 1682 c.1216C>T c.(1216-1218)Caa>Taa p.Q406* MIPOL1_ENST00000545536.1_Nonsense_Mutation_p.Q375*|MIPOL1_ENST00000537471.1_Nonsense_Mutation_p.Q406*|MIPOL1_ENST00000556451.1_Nonsense_Mutation_p.Q375*|MIPOL1_ENST00000539062.2_Nonsense_Mutation_p.Q375*|MIPOL1_ENST00000536774.1_Nonsense_Mutation_p.Q225*|MIPOL1_ENST00000396294.2_Nonsense_Mutation_p.Q406* NM_001195296.1|NM_001195297.1|NM_138731.6 NP_001182225.1|NP_001182226.1|NP_620059.1 Q8TD10 MIPO1_HUMAN mirror-image polydactyly 1 406 breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 23 Breast(36;0.119)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213) Lung(238;6.03e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.047)|all cancers(34;0.0953)|LUSC - Lung squamous cell carcinoma(13;0.0975)|BRCA - Breast invasive adenocarcinoma(188;0.196) GBM - Glioblastoma multiforme(112;0.0358) ATTACAACTTCAACATGCCAG 0.378000 33 87 0 0 1 0 0 ARHGEF17 9828 broad.mit.edu 37 11 73022225 73022225 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:73022225G>A ENST00000263674.3 + 1 2892 c.2542G>A c.(2542-2544)Gag>Aag p.E848K NM_014786.3 NP_055601.2 Q96PE2 ARHGH_HUMAN Rho guanine nucleotide exchange factor (GEF) 17 848 actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol Rho guanyl-nucleotide exchange factor activity endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2) 32 CCCTGGAGGGGAGCCCATCCG 0.642000 52 87 0 0 1 0 0 LRP5L 91355 broad.mit.edu 37 22 25755850 25755850 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr22:25755850G>A ENST00000444995.3 - 4 910 c.210C>T c.(208-210)atC>atT p.I70I LRP5L_ENST00000402785.2_Silent_p.I70I|LRP5L_ENST00000402859.2_Silent_p.I70I A4QPB2 LRP5L_HUMAN low density lipoprotein receptor-related protein 5-like 70 central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(2) 6 CTGACACCAGGATCTTGTGGG 0.612000 58 132 0 0 1 0 0 ZSCAN10 84891 broad.mit.edu 37 16 3139879 3139879 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr16:3139879C>T ENST00000252463.2 - 5 1478 c.1391G>A c.(1390-1392)cGg>cAg p.R464Q ZSCAN10_ENST00000575108.1_Missense_Mutation_p.R125Q|ZSCAN10_ENST00000538082.2_Missense_Mutation_p.R382Q NM_032805.1 NP_116194.1 Q96SZ4 ZSC10_HUMAN zinc finger and SCAN domain containing 10 464 negative regulation of transcription, DNA-dependent|viral reproduction nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|cervix(3)|endometrium(3)|kidney(1)|lung(8)|ovary(2)|prostate(1)|skin(4)|urinary_tract(1) 24 GAAGGGCCTCCGGTCGGAGTC 0.741000 5 11 0 0 1 0 0 OR8H3 390152 broad.mit.edu 37 11 55890291 55890291 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:55890291C>T ENST00000313472.3 + 1 443 c.443C>T c.(442-444)cCt>cTt p.P148L NM_001005201.1 NP_001005201.1 Q8N146 OR8H3_HUMAN olfactory receptor, family 8, subfamily H, member 3 148 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1) 42 Esophageal squamous(21;0.00693) ATCACTGGGCCTTATGTGATT 0.448000 77 152 0 0 1 0 0 PCDHA12 56137 broad.mit.edu 37 5 140255991 140255991 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:140255991G>A ENST00000398631.2 + 1 934 c.934G>A c.(934-936)Gag>Aag p.E312K PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000530339.1_Intron NM_018903.2|NM_031864.1 NP_061726.1|NP_114070.1 NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1) 78 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGATTTTGAAGAGAATAATGC 0.393000 48 115 0 0 1 0 0 ELMO1 9844 broad.mit.edu 37 7 37172840 37172840 + Splice_Site SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:37172840C>T ENST00000310758.4 - 14 1734 c.e14-1 ELMO1_ENST00000448602.1_Splice_Site|ELMO1_ENST00000442504.1_Splice_Site|ELMO1_ENST00000341056.3_Splice_Site NM_001206480.1|NM_014800.10 NP_001193409.1|NP_055615.8 Q92556 ELMO1_HUMAN engulfment and cell motility 1 actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction cytoskeleton|cytosol|plasma membrane SH3 domain binding breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 58 TGACATGATTCTGTGAGTAAA 0.458000 17 31 0 0 1 0 0 CPVL 54504 broad.mit.edu 37 7 29135784 29135784 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:29135784C>T ENST00000409850.1 - 8 984 c.338G>A c.(337-339)gGa>gAa p.G113E CPVL_ENST00000396276.3_Missense_Mutation_p.G113E|CPVL_ENST00000265394.5_Missense_Mutation_p.G113E|CPVL_ENST00000488891.2_5'UTR Q9H3G5 CPVL_HUMAN carboxypeptidase, vitellogenic-like 113 proteolysis protein binding|serine-type carboxypeptidase activity NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1) 28 GGATGAACCTCCCGGCCCACC 0.463000 16 181 0 0 1 0 0 ZNF397 84307 broad.mit.edu 37 18 32825331 32825331 + Missense_Mutation SNP A A G TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr18:32825331A>G ENST00000330501.7 + 4 815 c.662A>G c.(661-663)aAt>aGt p.N221S ZNF397_ENST00000355632.4_Intron|ZNF397_ENST00000592264.1_Intron|ZNF397_ENST00000261333.6_Intron|ZNF397_ENST00000589420.1_Intron NM_001135178.2 NP_001128650.1 Q8NF99 ZN397_HUMAN zinc finger protein 397 221 viral reproduction cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(2)|endometrium(1)|large_intestine(3)|lung(5)|skin(1) 12 CATGAAAGCAATTTAGTGTGG 0.438000 8 26 0 0 1 0 0 SART1 9092 broad.mit.edu 37 11 65734746 65734746 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:65734746C>T ENST00000312397.5 + 10 1297 c.1205C>T c.(1204-1206)aCc>aTc p.T402I NM_005146.4 NP_005137.1 O43290 SNUT1_HUMAN squamous cell carcinoma antigen recognized by T cells 402 cell cycle arrest|induction of apoptosis by intracellular signals|positive regulation of cytotoxic T cell differentiation|spliceosomal snRNP assembly Cajal body|catalytic step 2 spliceosome|cytosol endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 11 TTTAAAAAGACCAAGCGGAGG 0.562000 11 213 0 0 1 0 0 GML 2765 broad.mit.edu 37 8 143927901 143927901 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:143927901G>A ENST00000220940.1 + 4 362 c.272G>A c.(271-273)gGa>gAa p.G91E NM_002066.2 NP_002057.1 Q99445 GML_HUMAN glycosylphosphatidylinositol anchored molecule like 91 UPAR/Ly6. apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|negative regulation of cell proliferation anchored to membrane|extrinsic to membrane|plasma membrane NS(1)|central_nervous_system(2)|endometrium(1)|large_intestine(6)|lung(8) 18 all_cancers(97;4.26e-11)|all_epithelial(106;1.85e-08)|Lung NSC(106;0.000274)|all_lung(105;0.000755)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155) GAAGCCCCAGGAAAAATCTTC 0.388000 44 91 0 0 1 0 0 INHBC 3626 broad.mit.edu 37 12 57843323 57843323 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:57843323G>A ENST00000309668.2 + 2 704 c.577G>A c.(577-579)Ggg>Agg p.G193R INHBC_ENST00000550133.1_Missense_Mutation_p.G193R NM_005538.2 NP_005529.1 P55103 INHBC_HUMAN inhibin, beta C 193 growth extracellular region growth factor activity|hormone activity|transforming growth factor beta receptor binding breast(2)|endometrium(1)|large_intestine(6)|liver(2)|lung(4)|prostate(1) 16 CTGCAGCCAGGGGCACCTGAC 0.617000 29 97 0 0 1 0 0 HIBADH 11112 broad.mit.edu 37 7 27671975 27671975 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:27671975G>A ENST00000265395.2 - 3 548 c.342C>T c.(340-342)tcC>tcT p.S114S NM_152740.3 NP_689953.1 P31937 3HIDH_HUMAN 3-hydroxyisobutyrate dehydrogenase 114 branched chain family amino acid catabolic process|pentose-phosphate shunt|valine metabolic process mitochondrial matrix 3-hydroxyisobutyrate dehydrogenase activity|NAD binding|phosphogluconate dehydrogenase (decarboxylating) activity endometrium(4)|kidney(2)|lung(3)|ovary(2)|prostate(1) 12 GBM - Glioblastoma multiforme(3;0.0368) NADH(DB00157) CATTTGCTCCGGAATAAGCTT 0.343000 35 73 0 0 1 0 0 DISC1 27185 broad.mit.edu 37 1 231830196 231830196 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:231830196C>T ENST00000439617.2 + 2 745 c.692C>T c.(691-693)cCa>cTa p.P231L DISC1_ENST00000602873.1_Intron|TRAX_ENST00000602962.1_3'UTR|DISC1_ENST00000602281.1_Missense_Mutation_p.P231L|DISC1_ENST00000366633.3_Missense_Mutation_p.P231L|DISC1_ENST00000535983.1_Missense_Mutation_p.P231L|DISC1_ENST00000539444.1_Missense_Mutation_p.P231L|DISC1_ENST00000537876.1_Missense_Mutation_p.P231L|DISC1_ENST00000317586.4_Missense_Mutation_p.P231L|DISC1_ENST00000366636.4_Missense_Mutation_p.P231L|DISC1_ENST00000366637.3_5'UTR NM_001164537.1|NM_001164540.1|NM_018662.2 NP_001158009.1|NP_001158012.1|NP_061132.2 Q9NRI5 DISC1_HUMAN disrupted in schizophrenia 1 231 Interaction with MAP1A. microtubule cytoskeleton organization|neuron migration|positive regulation of neuroblast proliferation|positive regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway centrosome|microtubule protein binding breast(1)|cervix(1)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(2)|upper_aerodigestive_tract(1) 15 all_cancers(173;0.0208)|Prostate(94;0.0975) GGCTGCCCACCATCCAGAGAG 0.612000 24 84 0 0 1 0 0 NACA2 342538 broad.mit.edu 37 17 59668418 59668418 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:59668418C>T ENST00000521764.1 - 1 145 c.124G>A c.(124-126)Gat>Aat p.D42N NM_199290.3 NP_954984.1 Q9H009 NACA2_HUMAN nascent polypeptide-associated complex alpha subunit 2 42 protein transport cytoplasm|nucleus large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 12 all_epithelial(1;3.12e-14) TGGGTGGAATCCTGTTCTTCA 0.522000 60 157 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179582451 179582451 + Missense_Mutation SNP T T C TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:179582451T>C ENST00000589042.1 - 87 25374 c.25150A>G c.(25150-25152)Aat>Gat p.N8384D TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.N8067D|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.N7140D|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 8067 Ig-like 66. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TCTGAGCCATTGATGCGGCAT 0.413000 9 33 0 0 1 0 0 BRD2 6046 broad.mit.edu 37 6 32944218 32944218 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:32944218C>T ENST00000395289.2 + 6 2403 c.802C>T c.(802-804)Cct>Tct p.P268S BRD2_ENST00000449085.2_Missense_Mutation_p.P221S|BRD2_ENST00000374825.4_Missense_Mutation_p.P268S|BRD2_ENST00000374831.4_Missense_Mutation_p.P268S|BRD2_ENST00000443797.2_Missense_Mutation_p.P148S|BRD2_ENST00000395287.1_Missense_Mutation_p.P268S P25440 BRD2_HUMAN bromodomain containing 2 268 spermatogenesis nucleus protein serine/threonine kinase activity central_nervous_system(3)|stomach(2) 5 TACTGCAGCTCCTCCAGCCCA 0.557000 29 97 0 0 1 0 0 EEF1E1 9521 broad.mit.edu 37 6 8080164 8080164 + Missense_Mutation SNP C C A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:8080164C>A ENST00000379715.5 - 4 540 c.484G>T c.(484-486)Gtt>Ttt p.V162F EEF1E1-MUTED_ENST00000397456.2_Intron|EEF1E1_ENST00000429723.2_Intron NM_004280.4 NP_004271.1 O43324 MCA3_HUMAN eukaryotic translation elongation factor 1 epsilon 1 162 GST C-terminal. negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of DNA damage response, signal transduction by p53 class mediator|tRNA aminoacylation for protein translation cytosol|nucleus endometrium(1)|prostate(1) 2 Ovarian(93;0.0398) ATGAAGACAACACTAGACAGA 0.373000 20 144 4.7796e-09 4.8049e-09 1 1 0 GAS2L2 246176 broad.mit.edu 37 17 34074037 34074037 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:34074037C>T ENST00000254466.6 - 5 1110 c.1083G>A c.(1081-1083)ctG>ctA p.L361L GAS2L2_ENST00000587565.1_Silent_p.L345L NM_139285.3 NP_644814.1 Q8NHY3 GA2L2_HUMAN growth arrest-specific 2 like 2 361 cell cycle arrest cytoplasm|cytoskeleton central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 35 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) CCCCATACCTCAGGAATGGTG 0.602000 67 94 0 0 1 0 0 C2orf71 388939 broad.mit.edu 37 2 29293988 29293988 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:29293988C>T ENST00000331664.5 - 1 3139 c.3140G>A c.(3139-3141)cGa>cAa p.R1047Q NM_001029883.2 NP_001025054.1 A6NGG8 CB071_HUMAN chromosome 2 open reading frame 71 1047 Pro-rich. response to stimulus|visual perception photoreceptor outer segment NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1) 60 TGGGGAAGTTCGCCGCTTTGT 0.667000 38 67 0 0 1 0 0 OPN1LW 5956 broad.mit.edu 37 X 153421783 153421783 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chrX:153421783G>A ENST00000369951.4 + 5 819 c.759G>A c.(757-759)caG>caA p.Q253Q OPN1LW_ENST00000463296.1_3'UTR NM_020061.4 NP_064445.1 P04000 OPSR_HUMAN opsin 1 (cone pigments), long-wave-sensitive 253 phototransduction|protein-chromophore linkage|visual perception integral to plasma membrane G-protein coupled receptor activity|photoreceptor activity endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|skin(1) 15 all_cancers(53;1.83e-16)|all_epithelial(53;2.73e-10)|all_lung(58;6.39e-07)|Lung NSC(58;8.37e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) CAAAGCAGCAGAAAGAGTCTG 0.577000 82 33 0 0 1 0 0 B4GALNT2 124872 broad.mit.edu 37 17 47237991 47237991 + Missense_Mutation SNP G G A rs35625808 TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:47237991G>A ENST00000300404.2 + 7 993 c.934G>A c.(934-936)Gac>Aac p.D312N B4GALNT2_ENST00000393354.2_Missense_Mutation_p.D252N|B4GALNT2_ENST00000504681.1_Missense_Mutation_p.D226N NM_153446.2 NP_703147.2 Q8NHY0 B4GN2_HUMAN beta-1,4-N-acetyl-galactosaminyl transferase 2 312 lipid glycosylation|negative regulation of cell-cell adhesion|UDP-N-acetylgalactosamine metabolic process integral to Golgi membrane acetylgalactosaminyltransferase activity endometrium(3)|large_intestine(6)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 24 all cancers(6;0.000316) CAAGCTATACGACCCTGGACC 0.542000 101 165 0 0 1 0 0 TMC5 79838 broad.mit.edu 37 16 19451834 19451834 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr16:19451834C>T ENST00000396229.2 + 3 1223 c.474C>T c.(472-474)tcC>tcT p.S158S TMC5_ENST00000541464.1_Silent_p.S158S|TMC5_ENST00000542583.2_Silent_p.S158S|TMC5_ENST00000381414.4_Silent_p.S158S NM_001105248.1 NP_001098718.1 Q6UXY8 TMC5_HUMAN transmembrane channel-like 5 158 integral to membrane NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 31 ATTTTGGCTCCTTAGAACCGG 0.488000 101 247 0 0 1 0 0 SORCS3 22986 broad.mit.edu 37 10 107022186 107022186 + Missense_Mutation SNP A A T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:107022186A>T ENST00000369701.3 + 26 3768 c.3541A>T c.(3541-3543)Aca>Tca p.T1181S NM_014978.1 NP_055793.1 Q9UPU3 SORC3_HUMAN sortilin-related VPS10 domain containing receptor 3 1181 integral to membrane neuropeptide receptor activity autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 131 Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191) Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628) CCCCAAAATCACACTCAGTGA 0.507000 8 69 0 0 1 0 0 CPNE9 151835 broad.mit.edu 37 3 9759778 9759778 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:9759778G>A ENST00000383832.3 + 16 1187 c.997G>A c.(997-999)Gcc>Acc p.A333T CPNE9_ENST00000383831.3_Missense_Mutation_p.A333T NM_153635.2 NP_705899.2 Q8IYJ1 CPNE9_HUMAN copine family member IX 333 VWFA. breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 16 Medulloblastoma(99;0.227) CTATGCCATGGCCCTCAAGGC 0.572000 37 83 0 0 1 0 0 PZP 5858 broad.mit.edu 37 12 9356371 9356371 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:9356371G>A ENST00000261336.2 - 2 288 c.260C>T c.(259-261)tCc>tTc p.S87F NM_002864.2 NP_002855.2 pregnancy-zone protein breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5) 102 CACAGTGAAGGAGACACAGTG 0.507000 5 94 0 0 1 0 0 GRIP1 23426 broad.mit.edu 37 12 66909535 66909535 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:66909535C>T ENST00000359742.4 - 7 828 c.588G>A c.(586-588)acG>acA p.T196T GRIP1_ENST00000398016.3_Silent_p.T196T|GRIP1_ENST00000286445.7_Silent_p.T196T Q9Y3R0 GRIP1_HUMAN glutamate receptor interacting protein 1 196 PDZ 2. androgen receptor signaling pathway|intracellular signal transduction|positive regulation of transcription, DNA-dependent|synaptic transmission cell junction|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|postsynaptic membrane androgen receptor binding|beta-catenin binding|protein C-terminus binding|receptor signaling complex scaffold activity|transcription coactivator activity NS(3)|breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(19)|ovary(2)|prostate(2)|skin(1) 50 GBM - Glioblastoma multiforme(2;0.00069) GBM - Glioblastoma multiforme(28;0.0933) CGGGTTTGATCGTGCCCTCTC 0.418000 55 89 0 0 1 0 0 DAB1 1600 broad.mit.edu 37 1 57535083 57535083 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:57535083C>T ENST00000371236.2 - 8 876 c.613G>A c.(613-615)Gct>Act p.A205T DAB1_ENST00000414851.2_Intron|DAB1_ENST00000420954.2_Intron|DAB1_ENST00000485760.1_5'UTR|DAB1_ENST00000371234.4_Missense_Mutation_p.A205T|DAB1_ENST00000439789.2_Intron|DAB1_ENST00000371231.1_Missense_Mutation_p.A205T O75553 DAB1_HUMAN Dab, reelin signal transducer, homolog 1 (Drosophila) 205 cell differentiation|nervous system development central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5) 64 TCGTGTCCAGCCTCAAACACA 0.403000 30 73 0 0 1 0 0 KCNC3 3748 broad.mit.edu 37 19 50827261 50827261 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:50827261G>A ENST00000376959.2 - 2 1112 c.949C>T c.(949-951)Cat>Tat p.H317Y KCNC3_ENST00000391818.2_Intron|KCNC3_ENST00000477616.1_Missense_Mutation_p.H317Y|KCNC3_ENST00000474951.1_Intron Q14003 KCNC3_HUMAN potassium voltage-gated channel, Shaw-related subfamily, member 3 317 cell death voltage-gated potassium channel complex voltage-gated potassium channel activity endometrium(2)|large_intestine(4)|lung(5)|pancreas(1)|skin(1) 13 all_neural(266;0.057)|Ovarian(192;0.208) OV - Ovarian serous cystadenocarcinoma(262;0.00283)|GBM - Glioblastoma multiforme(134;0.0181) TTGCTAATATGGATGAAGCCC 0.592000 28 67 0 0 1 0 0 CNGA2 1260 broad.mit.edu 37 X 150908034 150908034 + Splice_Site SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chrX:150908034G>A ENST00000329903.4 + 3 237 c.203_splice c.e3-1 p.R68_splice NM_005140.1 NP_005131.1 Q16280 CNGA2_HUMAN cyclic nucleotide gated channel alpha 2 68 response to stimulus|sensory perception of smell intracellular cyclic nucleotide activated cation channel complex cAMP binding|intracellular cAMP activated cation channel activity breast(4)|endometrium(4)|large_intestine(5)|lung(34)|prostate(2) 49 Acute lymphoblastic leukemia(192;6.56e-05) TCACCTCTAGGATAGTTCGCC 0.512000 25 5 0 0 1 0 0 CCDC33 80125 broad.mit.edu 37 15 74628286 74628286 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr15:74628286G>A ENST00000398814.3 + 19 2591 c.2160G>A c.(2158-2160)atG>atA p.M720I CCDC33_ENST00000321288.5_Intron|CCDC33_ENST00000268082.4_3'UTR|CCDC33_ENST00000558821.1_3'UTR NM_025055.3 NP_079331.3 Q8N5R6 CCD33_HUMAN coiled-coil domain containing 33 923 protein binding breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 39 CCCACTCCATGGACCTCAAGC 0.607000 45 127 0 0 1 0 0 PGAP3 93210 broad.mit.edu 37 17 37844132 37844132 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:37844132G>A ENST00000300658.4 - 1 228 c.136C>T c.(136-138)Ctg>Ttg p.L46L PGAP3_ENST00000429199.2_Silent_p.L46L|PGAP3_ENST00000378011.4_Silent_p.L46L|PGAP3_ENST00000579146.1_Silent_p.L46L NM_033419.3 NP_219487.3 Q96FM1 PGAP3_HUMAN post-GPI attachment to proteins 3 46 GPI anchor biosynthetic process Golgi membrane|integral to membrane|intrinsic to endoplasmic reticulum membrane hydrolase activity, acting on ester bonds breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 12 AAGTGATTCAGAGCGCCCCCA 0.667000 3 13 0 0 1 0 0 CTTNBP2 83992 broad.mit.edu 37 7 117365106 117365106 + Splice_Site SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:117365106C>T ENST00000160373.3 - 18 4352 c.4261_splice c.e18+1 p.E1421_splice NM_033427.2 NP_219499.1 Q8WZ74 CTTB2_HUMAN cortactin binding protein 2 1421 breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 83 Lung NSC(10;0.0018)|all_lung(10;0.002) LUSC - Lung squamous cell carcinoma(290;0.133) ACCCACATACCTGCTCTGGGG 0.438000 6 239 0 0 1 0 0 P2RX6 9127 broad.mit.edu 37 22 21370338 21370338 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr22:21370338G>A ENST00000413302.2 + 2 420 c.272G>A c.(271-273)gGa>gAa p.G91E P2RX6_ENST00000336296.2_Missense_Mutation_p.G81E|P2RX6_ENST00000401443.1_Missense_Mutation_p.G65E|P2RX6_ENST00000443995.3_Missense_Mutation_p.G38E|P2RX6_ENST00000591411.1_3'UTR|P2RX6_ENST00000402329.3_Missense_Mutation_p.G55E O15547 P2RX6_HUMAN purinergic receptor P2X, ligand-gated ion channel, 6 91 muscle contraction|protein homooligomerization cell junction|cytoplasm|integral to plasma membrane ATP binding|extracellular ATP-gated cation channel activity|identical protein binding|purinergic nucleotide receptor activity AAGGAGCTTGGAAACCGGCTG 0.582000 5 11 0 0 1 0 0 DNAH9 1770 broad.mit.edu 37 17 11554468 11554468 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:11554468C>T ENST00000262442.3 + 13 2248 c.2180C>T c.(2179-2181)tCc>tTc p.S727F DNAH9_ENST00000454412.2_Missense_Mutation_p.S727F NM_001372.3 NP_001363.2 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 727 Stem (By similarity). cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4) 290 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) GCCATGTTCTCCTCCAGGGAT 0.438000 44 104 0 0 1 0 0 SLC45A1 50651 broad.mit.edu 37 1 8397893 8397893 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:8397893G>A ENST00000471889.1 + 7 2000 c.1615G>A c.(1615-1617)Ggg>Agg p.G539R SLC45A1_ENST00000377479.2_Missense_Mutation_p.G573R|SLC45A1_ENST00000289877.8_Missense_Mutation_p.G539R Q9Y2W3 S45A1_HUMAN solute carrier family 45, member 1 539 carbohydrate transport integral to membrane symporter activity central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(2) 33 Ovarian(185;0.0661)|all_lung(157;0.127) all_epithelial(116;1.22e-15)|all_lung(118;0.000147)|Lung NSC(185;0.000251)|Renal(390;0.000469)|Colorectal(325;0.00578)|Breast(348;0.00686)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;3.95e-66)|GBM - Glioblastoma multiforme(8;5.93e-33)|Colorectal(212;2.86e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00199)|READ - Rectum adenocarcinoma(331;0.0649) CTCATTCGAGGGGATGTTGCT 0.547000 48 115 0 0 1 0 0 ALOXE3 59344 broad.mit.edu 37 17 8006741 8006741 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:8006741G>A ENST00000380149.1 - 14 2354 c.2324C>T c.(2323-2325)aCc>aTc p.T775I ALOXE3_ENST00000448843.2_Missense_Mutation_p.T619I|ALOXE3_ENST00000318227.3_Missense_Mutation_p.T751I Q9BYJ1 LOXE3_HUMAN arachidonate lipoxygenase 3 619 leukotriene biosynthetic process iron ion binding|lipoxygenase activity breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4) 31 CAGGGTGGTGGTCCCCTTGGT 0.572000 31 81 0 0 1 0 0 A2M 2 broad.mit.edu 37 12 9262586 9262586 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:9262586C>T ENST00000318602.7 - 6 857 c.550G>A c.(550-552)Gag>Aag p.E184K NM_000014.4 NP_000005.2 P01023 A2MG_HUMAN alpha-2-macroglobulin 184 blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|extracellular space|platelet alpha granule lumen enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 77 Bacitracin(DB00626)|Becaplermin(DB00102) AGGCCACCCTCTAACTGGAAA 0.453000 73 125 0 0 1 0 0 IQGAP2 10788 broad.mit.edu 37 5 75997022 75997022 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:75997022G>A ENST00000274364.6 + 34 4786 c.4489G>A c.(4489-4491)Gat>Aat p.D1497N IQGAP2_ENST00000502745.1_Missense_Mutation_p.D993N|CTD-2384B11.2_ENST00000507514.1_RNA|IQGAP2_ENST00000396234.3_Missense_Mutation_p.D993N|IQGAP2_ENST00000379730.3_Missense_Mutation_p.D999N NM_006633.2 NP_006624.2 Q13576 IQGA2_HUMAN IQ motif containing GTPase activating protein 2 1497 small GTPase mediated signal transduction actin cytoskeleton actin binding|calmodulin binding|GTPase inhibitor activity|Ras GTPase activator activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 68 all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149) all cancers(79;1.38e-36) AGATATAGATGATCTTCAAAC 0.463000 56 97 0 0 1 0 0 PCDH11Y 83259 broad.mit.edu 37 Y 4967787 4967787 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chrY:4967787C>T ENST00000333703.4 + 5 2648 c.2135C>T c.(2134-2136)cCa>cTa p.P712L PCDH11Y_ENST00000362095.5_Missense_Mutation_p.P723L|PCDH11Y_ENST00000215473.6_Missense_Mutation_p.P723L NM_001278619.1|NM_032971.2 NP_001265548.1|NP_116753.1 Q9BZA8 PC11Y_HUMAN protocadherin 11 Y-linked 723 Cadherin 7. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding autonomic_ganglia(1)|kidney(2)|large_intestine(7)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 27 TCCACTAATCCAGGCACAGTG 0.403000 38 20 0 0 1 0 0 CELSR2 1952 broad.mit.edu 37 1 109815498 109815498 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:109815498C>T ENST00000271332.3 + 31 8248 c.8187C>T c.(8185-8187)gaC>gaT p.D2729D CELSR2_ENST00000498157.1_3'UTR NM_001408.2 NP_001399.1 Q9HCU4 CELR2_HUMAN cadherin, EGF LAG seven-pass G-type receptor 2 2729 dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity|protein binding NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2) 82 all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244) Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219) TAGAAGACGACCAGAGTGGCT 0.587000 21 85 0 0 1 0 0 RGS3 5998 broad.mit.edu 37 9 116345877 116345877 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:116345877C>T ENST00000374140.2 + 21 2394 c.2185C>T c.(2185-2187)Cct>Tct p.P729S RGS3_ENST00000462143.1_Missense_Mutation_p.P50S|RGS3_ENST00000343817.5_Missense_Mutation_p.P448S|RGS3_ENST00000342620.5_Intron|RP11-168K11.2_ENST00000428429.1_RNA|RGS3_ENST00000374134.3_Missense_Mutation_p.P50S|RGS3_ENST00000350696.5_Missense_Mutation_p.P729S|RGS3_ENST00000394646.3_Intron NM_144488.4 NP_652759.3 P49796 RGS3_HUMAN regulator of G-protein signaling 3 729 Pro-rich. inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway cytosol|nucleus|plasma membrane GTPase activator activity|signal transducer activity cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 48 CAAGGACTCCCCTTCTGGGCA 0.627000 44 81 0 0 1 0 0 ATP2A2 488 broad.mit.edu 37 12 110765735 110765735 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:110765735C>T ENST00000395494.2 + 7 1490 c.927C>T c.(925-927)ctC>ctT p.L309L ATP2A2_ENST00000539276.2_Silent_p.L336L|ATP2A2_ENST00000308664.6_Silent_p.L336L P16615 AT2A2_HUMAN ATPase, Ca++ transporting, cardiac muscle, slow twitch 2 336 ATP biosynthetic process|cell adhesion|epidermis development|platelet activation|sarcoplasmic reticulum calcium ion transport integral to plasma membrane|microsome|platelet dense tubular network membrane|sarcoplasmic reticulum membrane ATP binding|calcium-transporting ATPase activity|protein C-terminus binding|S100 alpha binding NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1) 38 TTCGAAGCCTCCCGTCTGTGG 0.493000 37 66 0 0 1 0 0 KRT40 125115 broad.mit.edu 37 17 39140345 39140345 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:39140345G>A ENST00000377755.4 - 1 215 c.181C>T c.(181-183)Cca>Tca p.P61S KRT40_ENST00000398486.2_Missense_Mutation_p.P61S Q6A162 K1C40_HUMAN keratin 40 61 Head. intermediate filament structural molecule activity endometrium(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1) 9 Breast(137;0.00043) AAGTAGCATGGCAGGAGGCAA 0.552000 58 87 0 0 1 0 0 PCDHA5 56143 broad.mit.edu 37 5 140203655 140203655 + Missense_Mutation SNP A A C TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:140203655A>C ENST00000529859.1 + 1 2295 c.2295A>C c.(2293-2295)aaA>aaC p.K765N PCDHA5_ENST00000378126.3_Missense_Mutation_p.K765N|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Missense_Mutation_p.K765N|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron NM_018908.2 NP_061731.1 NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3) 60 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTCCACCCAAAACAGACCTCA 0.552000 24 57 0 0 1 0 0 SUCO 51430 broad.mit.edu 37 1 172501865 172501865 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:172501865G>A ENST00000367723.3 + 1 377 c.253G>A c.(253-255)Gaa>Aaa p.E85K NM_016227.2 NP_057311.2 SUN domain containing ossification factor CTGGGAAAGAGAAAAACGAAT 0.507000 5 85 0 0 1 0 0 USP36 57602 broad.mit.edu 37 17 76831522 76831522 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:76831522G>A ENST00000312010.6 - 4 639 c.315C>T c.(313-315)ttC>ttT p.F105F USP36_ENST00000590546.2_Silent_p.F105F|USP36_ENST00000542802.2_Silent_p.F105F|USP36_ENST00000589424.1_Silent_p.F105F NM_025090.3 NP_079366.3 Q9P275 UBP36_HUMAN ubiquitin specific peptidase 36 105 ubiquitin-dependent protein catabolic process nucleolus cysteine-type peptidase activity|ubiquitin thiolesterase activity p.F105F(2) breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 34 BRCA - Breast invasive adenocarcinoma(99;0.000842)|OV - Ovarian serous cystadenocarcinoma(97;0.151) GCTCCGTGGGGAAAAGCACTT 0.582000 11 39 0 0 1 0 0 TECRL 253017 broad.mit.edu 37 4 65180398 65180398 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:65180398C>T ENST00000381210.3 - 5 629 c.519G>A c.(517-519)gaG>gaA p.E173E TECRL_ENST00000513125.1_5'UTR|TECRL_ENST00000507440.1_Silent_p.E173E NM_001010874.4 NP_001010874.2 Q5HYJ1 TECRL_HUMAN trans-2,3-enoyl-CoA reductase-like 173 lipid metabolic process cytoplasm|integral to membrane oxidoreductase activity, acting on the CH-CH group of donors endometrium(2)|kidney(5)|large_intestine(7)|lung(30)|prostate(1)|skin(1)|stomach(1) 47 TTCTAGCACTCTCTTTTCCAT 0.413000 24 41 0 0 1 0 0 PGBD5 79605 broad.mit.edu 37 1 230492679 230492679 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:230492679C>T ENST00000321327.2 - 4 809 c.810G>A c.(808-810)caG>caA p.Q270Q PGBD5_ENST00000391860.1_Silent_p.Q125Q|PGBD5_ENST00000525115.1_Silent_p.Q171Q Q8N414 PGBD5_HUMAN piggyBac transposable element derived 5 171 integral to membrane biliary_tract(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(2)|skin(1) 33 Breast(184;0.0397) Prostate(94;0.167) GBM - Glioblastoma multiforme(131;0.201) CGAAGCTGTTCTGCAGGGAGT 0.607000 35 113 0 0 1 0 0 UNC80 285175 broad.mit.edu 37 2 210642052 210642052 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:210642052C>T ENST00000439458.1 + 4 449 c.369C>T c.(367-369)gcC>gcT p.A123A UNC80_ENST00000272845.5_Silent_p.A123A|UNC80_ENST00000478701.1_3'UTR NM_032504.1 NP_115893.1 Q8N2C7 UNC80_HUMAN unc-80 homolog (C. elegans) 123 integral to membrane breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1) 20 TTCTGGAGGCCCCCCAGGACT 0.542000 34 99 0 0 1 0 0 LAMB4 22798 broad.mit.edu 37 7 107720225 107720225 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:107720225C>T ENST00000388781.3 - 15 1791 c.1708G>A c.(1708-1710)Gag>Aag p.E570K LAMB4_ENST00000388780.3_Missense_Mutation_p.E570K|LAMB4_ENST00000414450.2_Missense_Mutation_p.E570K|LAMB4_ENST00000205386.4_Missense_Mutation_p.E570K NM_007356.2 NP_031382.2 A4D0S4 LAMB4_HUMAN laminin, beta 4 570 Laminin IV type B. cell adhesion basement membrane NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4) 97 CCAAACGTCTCCGAGCCCTAA 0.517000 24 39 0 0 1 0 0 ITIH5 80760 broad.mit.edu 37 10 7627961 7627961 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:7627961G>A ENST00000256861.6 - 8 1089 c.1011C>T c.(1009-1011)tcC>tcT p.S337S ITIH5_ENST00000397146.2_Silent_p.S337S|ITIH5_ENST00000298441.6_Silent_p.S123S|ITIH5_ENST00000397145.2_Silent_p.S337S|ITIH5_ENST00000446830.2_Silent_p.S119S|ITIH5_ENST00000434980.1_5'UTR NM_030569.6 NP_085046.5 Q86UX2 ITIH5_HUMAN inter-alpha-trypsin inhibitor heavy chain family, member 5 337 VWFA. S -> P (in Ref. 3; BAB55070). hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3) 75 TGATCCGGTTGGAAAATCCAA 0.473000 32 65 0 0 1 0 0 SVEP1 79987 broad.mit.edu 37 9 113192631 113192631 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:113192631C>T ENST00000401783.2 - 33 5789 c.5453G>A c.(5452-5454)gGa>gAa p.G1818E SVEP1_ENST00000374469.1_Missense_Mutation_p.G1795E NM_153366.3 NP_699197.3 Q4LDE5 SVEP1_HUMAN sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 1818 Sushi 7. cell adhesion cytoplasm|extracellular region|membrane calcium ion binding NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4) 147 CAACTGGTATCCTTCCTGACA 0.403000 15 29 0 0 1 0 0 CAMK1G 57172 broad.mit.edu 37 1 209783237 209783237 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:209783237G>A ENST00000009105.1 + 9 1035 c.790G>A c.(790-792)Gag>Aag p.E264K CAMK1G_ENST00000361322.2_Missense_Mutation_p.E264K|CAMK1G_ENST00000494990.1_3'UTR Q96NX5 KCC1G_HUMAN calcium/calmodulin-dependent protein kinase IG 264 Protein kinase. Golgi membrane|plasma membrane ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity breast(2)|central_nervous_system(1)|large_intestine(8)|lung(8)|stomach(1) 20 OV - Ovarian serous cystadenocarcinoma(81;0.0475) GGATCCGAACGAGCGGTACAC 0.498000 36 60 0 0 1 0 0 BAHCC1 57597 broad.mit.edu 37 17 79425953 79425953 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:79425953G>A ENST00000307745.7 + 24 5563 c.5563G>A c.(5563-5565)Gag>Aag p.E1855K ggaagaggaggaggaCAGCGG 0.662000 16 43 0 0 1 0 0 KRT4 3851 broad.mit.edu 37 12 53207523 53207523 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:53207523C>T ENST00000293774.4 - 1 812 c.542G>A c.(541-543)gGg>gAg p.G181E KRT4_ENST00000551956.1_Missense_Mutation_p.G107E|KRT4_ENST00000458244.2_Missense_Mutation_p.G87E B4DRS2 B4DRS2_HUMAN keratin 4 107 keratin filament structural molecule activity endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|prostate(2)|skin(2) 29 CTGAATTCCCCCAGCGGGGCA 0.612000 13 154 0 0 1 0 0 IGHMBP2 3508 broad.mit.edu 37 11 68704272 68704272 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:68704272G>A ENST00000255078.3 + 13 2435 c.2324G>A c.(2323-2325)gGg>gAg p.G775E NM_002180.2 NP_002171.2 P38935 SMBP2_HUMAN immunoglobulin mu binding protein 2 775 R3H. cell death|DNA recombination|DNA repair|DNA replication|protein homooligomerization|transcription, DNA-dependent|translation axon|growth cone|nucleus|ribonucleoprotein complex ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' RNA helicase activity|ribosome binding|single-stranded DNA binding|transcription factor binding|tRNA binding|zinc ion binding central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|liver(1)|lung(15)|ovary(2)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713) TCCGGGGAAGGGAAGAGGAGG 0.652000 23 38 0 0 1 0 0 ASTN1 460 broad.mit.edu 37 1 177001679 177001679 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:177001679C>T ENST00000367654.2 - 3 791 c.778G>A c.(778-780)Gga>Aga p.G260R ASTN1_ENST00000367657.3_Missense_Mutation_p.G260R|ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000361833.2_Missense_Mutation_p.G260R|ASTN1_ENST00000424564.2_Missense_Mutation_p.G260R O14525 ASTN1_HUMAN astrotactin 1 260 cell migration|neuron cell-cell adhesion integral to membrane p.G260*(1) NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3) 153 TCCTCCCCTCCGTTCATGCAC 0.607000 102 120 0 0 1 0 0 MMP16 4325 broad.mit.edu 37 8 89128739 89128739 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:89128739G>A ENST00000286614.6 - 6 1361 c.1080C>T c.(1078-1080)ttC>ttT p.F360F MMP16_ENST00000544227.1_5'UTR NM_005941.4 NP_005932.2 P51512 MMP16_HUMAN matrix metallopeptidase 16 (membrane-inserted) 360 Hemopexin-like 1. collagen catabolic process|proteolysis cell surface|integral to plasma membrane|proteinaceous extracellular matrix calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3) 81 CTCCTACCTTGAAAACAAACA 0.423000 24 53 0 0 1 0 0 ELAVL3 1995 broad.mit.edu 37 19 11569315 11569315 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:11569315C>T ENST00000359227.3 - 4 869 c.445G>A c.(445-447)Ggc>Agc p.G149S ELAVL3_ENST00000438662.2_Missense_Mutation_p.G149S NM_001420.3|NM_032281.2 NP_001411.2|NP_115657.2 Q14576 ELAV3_HUMAN ELAV like neuron-specific RNA binding protein 3 149 RRM 2. cell differentiation|nervous system development AU-rich element binding|nucleotide binding breast(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 15 ATGATGCGGCCGTACTGGGAG 0.627000 52 109 0 0 1 0 0 DTX1 1840 broad.mit.edu 37 12 113496193 113496193 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:113496193G>A ENST00000257600.3 + 1 699 c.196G>A c.(196-198)Gac>Aac p.D66N NM_004416.2 NP_004407.2 Q86Y01 DTX1_HUMAN deltex homolog 1 (Drosophila) 66 WWE 1. negative regulation of neuron differentiation|Notch signaling pathway|regulation of Notch signaling pathway|transcription from RNA polymerase II promoter cytoplasm|nucleus Notch binding|SH3 domain binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 32 GGGGCAGGTGGACGCCCAGCT 0.662000 6 194 0 0 1 0 0 IGHG1 3500 broad.mit.edu 37 14 106204166 106204166 + RNA SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr14:106204166G>A ENST00000390548.2 - 0 1132 CACCACCGAGGAGAAGATCCA 0.667000 37 63 0 0 1 0 0 BPTF 2186 broad.mit.edu 37 17 65907238 65907238 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:65907238G>A ENST00000321892.4 + 13 3677 c.3616G>A c.(3616-3618)Gaa>Aaa p.E1206K BPTF_ENST00000306378.6_Missense_Mutation_p.E1080K|BPTF_ENST00000335221.5_Missense_Mutation_p.E1206K|BPTF_ENST00000424123.3_Missense_Mutation_p.E1067K Q12830 BPTF_HUMAN bromodomain PHD finger transcription factor 1206 brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|NURF complex sequence-specific DNA binding|transcription factor binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 78 all_cancers(12;6e-11) BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24) ACAGCGACTCGAAAAAATCAA 0.338000 50 38 0 0 1 0 0 PIP4K2C 79837 broad.mit.edu 37 12 57994848 57994848 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:57994848C>T ENST00000354947.5 + 8 1084 c.1068C>T c.(1066-1068)atC>atT p.I356I PIP4K2C_ENST00000540759.2_Silent_p.I356I|PIP4K2C_ENST00000550465.1_Silent_p.I338I|PIP4K2C_ENST00000422156.3_Silent_p.I308I Q8TBX8 PI42C_HUMAN phosphatidylinositol-5-phosphate 4-kinase, type II, gamma 356 PIPK. cytoplasm|membrane 1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding|identical protein binding autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(13)|pancreas(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 33 Melanoma(17;0.122) TCTATGCCATCCGGAGTGCTG 0.562000 7 105 0 0 1 0 0 WDR13 64743 broad.mit.edu 37 X 48458800 48458800 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chrX:48458800C>T ENST00000218056.5 + 5 1122 c.617C>T c.(616-618)cCa>cTa p.P206L NM_001166426.1|NM_017883.4 NP_001159898.1|NP_060353.2 Q9H1Z4 WDR13_HUMAN WD repeat domain 13 206 cytoplasm|nucleus endometrium(1)|large_intestine(4)|lung(4)|ovary(2) 11 GTGCCTGCCCCACCCACAGTG 0.642000 46 22 0 0 1 0 0 HSD17B3 3293 broad.mit.edu 37 9 99007676 99007676 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:99007676C>T ENST00000375263.3 - 8 604 c.557G>A c.(556-558)gGg>gAg p.G186E HSD17B3_ENST00000464104.1_5'UTR|HSD17B3_ENST00000375262.2_Missense_Mutation_p.G186E NM_000197.1 NP_000188.1 P37058 DHB3_HUMAN hydroxysteroid (17-beta) dehydrogenase 3 186 androgen biosynthetic process|male genitalia development endoplasmic reticulum membrane|microsome binding|testosterone 17-beta-dehydrogenase (NAD+) activity|testosterone 17-beta-dehydrogenase (NADP+) activity breast(1)|endometrium(3)|large_intestine(2)|lung(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 13 Acute lymphoblastic leukemia(62;0.0171)|all_hematologic(171;0.214) NADH(DB00157) CAGGGCTATCCCAGAAGAAAT 0.458000 5 114 0 0 1 0 0 OR4C3 256144 broad.mit.edu 37 11 48346831 48346831 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:48346831G>A ENST00000319856.4 + 1 360 c.339G>A c.(337-339)gaG>gaA p.E113E NM_001004702.1 NP_001004702.1 Q8NH37 OR4C3_HUMAN olfactory receptor, family 4, subfamily C, member 3 86 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1) 32 CATTGTATGAGGGGAGAACCA 0.443000 86 348 0 0 1 0 0 OR2M5 127059 broad.mit.edu 37 1 248308556 248308556 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:248308556C>T ENST00000366476.1 + 1 107 c.107C>T c.(106-108)tCa>tTa p.S36L NM_001004690.1 NP_001004690.1 A3KFT3 OR2M5_HUMAN olfactory receptor, family 2, subfamily M, member 5 36 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 49 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0388) GCCATCTTTTCAGTGGCCTTC 0.517000 19 449 0 0 1 0 0 IL17A 3605 broad.mit.edu 37 6 52052464 52052464 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:52052464C>T ENST00000340057.1 + 2 136 c.91C>T c.(91-93)Cca>Tca p.P31S NM_002190.2 NP_002181.1 Q16552 IL17_HUMAN interleukin 17A 31 apoptosis|cell-cell signaling|fibroblast activation|immune response|inflammatory response|positive regulation of interleukin-23 production|positive regulation of osteoclast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein glycosylation extracellular space cytokine activity endometrium(3)|large_intestine(2)|lung(8)|prostate(3)|skin(1) 17 Lung NSC(77;0.116) CCCACGAAATCCAGGATGCCC 0.493000 11 420 0 0 1 0 0 HLA-DPA1 3113 broad.mit.edu 37 6 33037629 33037629 + Silent SNP C C T rs41555919 byFrequency TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:33037629C>T ENST00000419277.1 - 3 264 c.135G>A c.(133-135)caG>caA p.Q45Q HLA-DPA1_ENST00000428995.1_Silent_p.Q45Q|HLA-DPA1_ENST00000463066.1_5'UTR NM_001242524.1|NM_001242525.1 NP_001229453.1|NP_001229454.1 P20036 DPA1_HUMAN major histocompatibility complex, class II, DP alpha 1 45 Alpha-1. antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway endoplasmic reticulum membrane|endosome membrane|Golgi apparatus|integral to plasma membrane|lysosomal membrane|MHC class II protein complex MHC class II receptor activity kidney(5)|large_intestine(1)|lung(6)|prostate(1)|skin(2) 15 GTCTATGCGTCTGTACAAACG 0.433000 5 116 0 0 1 0 0 ZNF462 58499 broad.mit.edu 37 9 109688017 109688017 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:109688017C>T ENST00000277225.5 + 3 2113 c.1824C>T c.(1822-1824)tcC>tcT p.S608S ZNF462_ENST00000457913.1_Silent_p.S608S Q96JM2 ZN462_HUMAN zinc finger protein 462 608 transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 119 GTAATTACTCCACCACAACTC 0.527000 17 233 0 0 1 0 0 TRHDE 29953 broad.mit.edu 37 12 72863576 72863576 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:72863576G>A ENST00000261180.4 + 4 1315 c.1219G>A c.(1219-1221)Gag>Aag p.E407K NM_013381.2 NP_037513.1 Q9UKU6 TRHDE_HUMAN thyrotropin-releasing hormone degrading enzyme 407 Substrate binding (By similarity). cell-cell signaling|proteolysis|signal transduction integral to plasma membrane aminopeptidase activity|metallopeptidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 79 TGCTGCTATGGAGAACTGGGG 0.368000 41 76 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9091076 9091076 + Missense_Mutation SNP T T G TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:9091076T>G ENST00000397910.4 - 1 942 c.739A>C c.(739-741)Aat>Cat p.N247H NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 247 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 CCTCTGGAATTTGGGGTCCCT 0.468000 5 97 0 0 1 0 0 SERPINB1 1992 broad.mit.edu 37 6 2840731 2840731 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:2840731G>A ENST00000380739.5 - 2 292 c.90C>T c.(88-90)atC>atT p.I30I SERPINB1_ENST00000476896.1_5'UTR|SERPINB1_ENST00000537185.1_5'UTR P30740 ILEU_HUMAN serpin peptidase inhibitor, clade B (ovalbumin), member 1 30 regulation of proteolysis cytoplasm|extracellular space serine-type endopeptidase inhibitor activity breast(4)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(2)|ovary(2) 13 Ovarian(93;0.0412) OV - Ovarian serous cystadenocarcinoma(45;0.0717) TGAAGGGAGAGATGAAGATGT 0.512000 59 69 0 0 1 0 0 FAM179A 165186 broad.mit.edu 37 2 29225433 29225433 + Silent SNP A A T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:29225433A>T ENST00000379558.4 + 5 810 c.459A>T c.(457-459)ggA>ggT p.G153G FAM179A_ENST00000403861.2_Silent_p.G153G NM_199280.2 NP_954974.2 Q6ZUX3 F179A_HUMAN family with sequence similarity 179, member A 153 binding breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 GCCCCCAAGGAGTTCCCCTGC 0.617000 19 33 0 0 1 0 0 LRRK1 79705 broad.mit.edu 37 15 101605805 101605805 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr15:101605805G>A ENST00000284395.5 + 33 5554 c.5154G>A c.(5152-5154)ctG>ctA p.L1718L LRRK1_ENST00000388948.3_Silent_p.L1721L|LRRK1_ENST00000532145.1_3'UTR|RP11-505E24.2_ENST00000559857.1_RNA Q38SD2 LRRK1_HUMAN leucine-rich repeat kinase 1 1721 small GTPase mediated signal transduction mitochondrion ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1) 72 Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094) OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23) GTGCCTCCCTGGAGATCTGCA 0.632000 7 125 0 0 1 0 0 DHX8 1659 broad.mit.edu 37 17 41577430 41577430 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:41577430C>T ENST00000262415.3 + 11 1577 c.1505C>T c.(1504-1506)cCc>cTc p.P502L DHX8_ENST00000540306.1_Missense_Mutation_p.P502L NM_004941.1 NP_004932.1 Q14562 DHX8_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 8 502 catalytic step 2 spliceosome ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1) 42 Breast(137;0.00908) BRCA - Breast invasive adenocarcinoma(366;0.08) GATTCTATTCCCATGGGACTC 0.527000 114 154 0 0 1 0 0 MCHR2 84539 broad.mit.edu 37 6 100368841 100368841 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:100368841C>T ENST00000281806.2 - 6 1312 c.998G>A c.(997-999)gGa>gAa p.G333E MCHR2_ENST00000369212.1_Missense_Mutation_p.G333E|MCHR2_ENST00000445970.1_Missense_Mutation_p.G333E NM_001040179.1 NP_001035269.1 Q969V1 MCHR2_HUMAN melanin-concentrating hormone receptor 2 333 integral to membrane|plasma membrane G-protein coupled receptor activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 39 all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069) BRCA - Breast invasive adenocarcinoma(108;0.0429) CAGAGTGTTTCCCATATTGTT 0.408000 38 106 0 0 1 0 0 DEFB113 245927 broad.mit.edu 37 6 49937290 49937290 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:49937290C>T ENST00000398718.1 - 1 48 c.49G>A c.(49-51)Ggt>Agt p.G17S NM_001037729.1 NP_001032818.1 Q30KQ7 DB113_HUMAN defensin, beta 113 17 defense response to bacterium extracellular region breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3) 7 Lung NSC(77;0.042) CCTGATGGACCACAAGACACA 0.303000 23 96 0 0 1 0 0 HIPK2 28996 broad.mit.edu 37 7 139316468 139316468 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:139316468G>A ENST00000406875.3 - 3 1201 c.1107C>T c.(1105-1107)gcC>gcT p.A369A HIPK2_ENST00000428878.2_Silent_p.A369A|HIPK2_ENST00000342645.6_Silent_p.A369A NM_022740.4 NP_073577.3 Q9H2X6 HIPK2_HUMAN homeodomain interacting protein kinase 2 369 Interaction with DAXX.|Protein kinase. apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|negative regulation of BMP signaling pathway|positive regulation of JNK cascade|positive regulation of transforming growth factor beta receptor signaling pathway|SMAD protein signal transduction|transcription, DNA-dependent|virus-host interaction centrosome|nuclear membrane|PML body ATP binding|protein serine/threonine kinase activity|SMAD binding|transcription corepressor activity|virion binding breast(4)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 Melanoma(164;0.205) TGATCTCAGGGGCCCTGAAAA 0.443000 8 41 0 0 1 0 0 DGKH 160851 broad.mit.edu 37 13 42703691 42703691 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr13:42703691C>T ENST00000337343.4 + 3 328 c.307C>T c.(307-309)Ctg>Ttg p.L103L DGKH_ENST00000540693.1_Silent_p.L103L|DGKH_ENST00000379274.2_5'UTR|DGKH_ENST00000261491.4_Silent_p.L103L NM_178009.3 NP_821077.1 Q86XP1 DGKH_HUMAN diacylglycerol kinase, eta 103 PH. activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation|protein oligomerization endosome|plasma membrane ATP binding|diacylglycerol kinase activity|metal ion binding breast(2)|endometrium(3)|kidney(5)|large_intestine(11)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 Lung NSC(96;1.02e-05)|Prostate(109;0.0168)|Lung SC(185;0.0262)|Breast(139;0.0709)|Hepatocellular(98;0.114) OV - Ovarian serous cystadenocarcinoma(117;5.88e-05)|GBM - Glioblastoma multiforme(144;0.000935)|BRCA - Breast invasive adenocarcinoma(63;0.109) TTAACAGTCTCTGATATTTGA 0.338000 9 24 0 0 1 0 0 TRAV6 6956 broad.mit.edu 37 14 22237099 22237099 + RNA SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr14:22237099C>T ENST00000390428.3 + 0 183 AAAACGGCCACCCTGACCTGC 0.473000 15 32 0 0 1 0 0 THSD7B 80731 broad.mit.edu 37 2 138330030 138330030 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:138330030C>T ENST00000409968.1 + 17 3505 c.3327C>T c.(3325-3327)aaC>aaT p.N1109N THSD7B_ENST00000272643.3_Silent_p.N1112N|THSD7B_ENST00000413152.2_Silent_p.N1081N|THSD7B_ENST00000543459.1_Intron thrombospondin, type I, domain containing 7B NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 134 BRCA - Breast invasive adenocarcinoma(221;0.19) ACCTGTGCAACCAGGATGAAA 0.458000 24 29 0 0 1 0 0 TG 7038 broad.mit.edu 37 8 133899343 133899343 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:133899343G>A ENST00000220616.4 + 9 1766 c.1726G>A c.(1726-1728)Gaa>Aaa p.E576K TG_ENST00000377869.1_Missense_Mutation_p.E576K NM_003235.4 NP_003226.4 P01266 THYG_HUMAN thyroglobulin 576 hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation extracellular space hormone activity NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8) 168 Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735) BRCA - Breast invasive adenocarcinoma(115;0.000701) KIRC - Kidney renal clear cell carcinoma(542;0.0546) GGAGCTTCCAGAATTCCTTCT 0.448000 56 86 0 0 1 0 0 KIAA1551 55196 broad.mit.edu 37 12 32134962 32134962 + Missense_Mutation SNP T T G TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:32134962T>G ENST00000312561.4 + 4 1487 c.1073T>G c.(1072-1074)gTg>gGg p.V358G KIAA1551_ENST00000535596.1_Intron NM_018169.3 NP_060639.3 KIAA1551 AGATCTTCTGTGGATGGTGTT 0.358000 31 109 0 0 1 0 0 OR1F1 4992 broad.mit.edu 37 16 3254567 3254567 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr16:3254567C>T ENST00000304646.2 + 1 321 c.321C>T c.(319-321)ttC>ttT p.F107F AJ003147.9_ENST00000576468.1_RNA NM_012360.1 NP_036492.1 O43749 OR1F1_HUMAN olfactory receptor, family 1, subfamily F, member 1 107 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(1)|large_intestine(2)|lung(7) 11 TTTTCATGTTCGTGGACATGG 0.502000 67 166 0 0 1 0 0 CHD8 57680 broad.mit.edu 37 14 21871193 21871193 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr14:21871193G>A ENST00000399982.2 - 17 3761 c.3697C>T c.(3697-3699)Cca>Tca p.P1233S CHD8_ENST00000555962.1_5'UTR|CHD8_ENST00000430710.3_Missense_Mutation_p.P954S|CHD8_ENST00000557364.1_Missense_Mutation_p.P1233S NM_001170629.1 NP_001164100.1 Q9HCK8 CHD8_HUMAN chromodomain helicase DNA binding protein 8 1233 Helicase C-terminal. ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent MLL1 complex ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 85 all_cancers(95;0.00121) Epithelial(56;2.55e-06)|all cancers(55;1.73e-05) GBM - Glioblastoma multiforme(265;0.00424) TCATTTTGTGGATTCCAGTCT 0.413000 25 56 0 0 1 0 0 COL13A1 1305 broad.mit.edu 37 10 71665563 71665563 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:71665563C>T ENST00000356340.3 + 16 1472 c.936C>T c.(934-936)ggC>ggT p.G312G COL13A1_ENST00000354547.3_Silent_p.G290G|COL13A1_ENST00000398972.3_Silent_p.G312G|COL13A1_ENST00000522165.1_Silent_p.G293G|COL13A1_ENST00000398968.3_Silent_p.G293G|COL13A1_ENST00000398964.3_Silent_p.G283G|COL13A1_ENST00000398969.3_Silent_p.G255G|COL13A1_ENST00000398974.3_Silent_p.G300G|COL13A1_ENST00000520267.1_Silent_p.G255G|COL13A1_ENST00000398966.3_Silent_p.G290G|COL13A1_ENST00000398978.3_Silent_p.G312G|COL13A1_ENST00000398973.3_Silent_p.G312G|COL13A1_ENST00000517713.1_Silent_p.G290G|COL13A1_ENST00000398971.3_Silent_p.G312G|COL13A1_ENST00000357811.3_Silent_p.G290G|COL13A1_ENST00000520133.1_Silent_p.G261G Q5TAT6 CODA1_HUMAN collagen, type XIII, alpha 1 312 Triple-helical region 2 (COL2). cell differentiation|cell-cell adhesion|cell-matrix adhesion|endochondral ossification|morphogenesis of a branching structure collagen type XIII|integral to membrane extracellular matrix structural constituent|heparin binding|protein binding endometrium(5)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1) 28 Atorvastatin(DB01076)|Simvastatin(DB00641) GGATCCAGGGCTACCACGGCC 0.547000 13 33 0 0 1 0 0 OR11H4 390442 broad.mit.edu 37 14 20710983 20710983 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr14:20710983G>A ENST00000315409.2 + 1 86 c.33G>A c.(31-33)atG>atA p.M11I NM_001004479.1 NP_001004479.1 Q8NGC9 O11H4_HUMAN olfactory receptor, family 11, subfamily H, member 4 11 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(3)|lung(11)|ovary(1)|upper_aerodigestive_tract(1) 29 all_cancers(95;0.000888) Epithelial(56;1.75e-06)|all cancers(55;1.22e-05) GBM - Glioblastoma multiforme(265;0.0146) TAAGACCCATGAACAGGTCAG 0.403000 5 74 0 0 1 0 0 HK3 3101 broad.mit.edu 37 5 176308957 176308957 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:176308957G>A ENST00000292432.5 - 16 2316 c.2225C>T c.(2224-2226)cCc>cTc p.P742L NM_002115.2 NP_002106.2 P52790 HXK3_HUMAN hexokinase 3 (white cell) 742 Catalytic. glucose transport|glycolysis|transmembrane transport cytosol|membrane ATP binding|glucokinase activity breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 47 all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115) Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) CTGCTTGCCGGGGTTGATGGA 0.637000 8 152 0 0 1 0 0 GRM3 2913 broad.mit.edu 37 7 86479737 86479737 + Missense_Mutation SNP T T C TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:86479737T>C ENST00000394720.2 + 4 1547 c.1370T>C c.(1369-1371)cTt>cCt p.L457P GRM3_ENST00000546348.1_Silent_p.L407L|GRM3_ENST00000536043.1_Silent_p.L687L|GRM3_ENST00000361669.2_Silent_p.L815L|GRM3_ENST00000439827.1_Missense_Mutation_p.L459P Q14832 GRM3_HUMAN glutamate receptor, metabotropic 3 0 synaptic transmission integral to plasma membrane NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5) 109 Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142) Acamprosate(DB00659)|Nicotine(DB00184) CTTTGTGGTCTTGGGCTGTTT 0.493000 32 95 0 0 1 0 0 PROKR1 10887 broad.mit.edu 37 2 68882552 68882552 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:68882552C>T ENST00000303786.3 + 3 1446 c.1026C>T c.(1024-1026)ttC>ttT p.F342F PROKR1_ENST00000394342.2_Silent_p.F342F Q8TCW9 PKR1_HUMAN prokineticin receptor 1 342 integral to membrane|plasma membrane neuropeptide Y receptor activity endometrium(3)|kidney(2)|large_intestine(14)|lung(9)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 CTCTGTGCTTCGTGACCGTCA 0.507000 24 62 0 0 1 0 0 SLAMF8 56833 broad.mit.edu 37 1 159799734 159799734 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:159799734C>T ENST00000289707.5 + 2 268 c.119C>T c.(118-120)cCc>cTc p.P40L SLAMF8_ENST00000368104.4_Intron NM_020125.2 NP_064510.1 Q9P0V8 SLAF8_HUMAN SLAM family member 8 40 integral to membrane endometrium(2)|large_intestine(4)|lung(6) 12 all_hematologic(112;0.0597) GCAGCGCGTCCCCCTGGCTTC 0.592000 13 390 0 0 1 0 0 DNER 92737 broad.mit.edu 37 2 230231717 230231717 + Silent SNP G G A rs141125901 TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:230231717G>A ENST00000341772.4 - 12 2108 c.1974C>T c.(1972-1974)atC>atT p.I658I NM_139072.3 NP_620711.3 Q8NFT8 DNER_HUMAN delta/notch-like EGF repeat containing 658 central nervous system development|endocytosis|neuron migration|Notch signaling pathway|synapse assembly dendrite|early endosome|integral to membrane|plasma membrane calcium ion binding|clathrin binding|transmembrane receptor activity NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 63 all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175) Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375) AAATCCCCACGATCAGGATGA 0.562000 21 40 0 0 1 0 0 PCDHGB1 56104 broad.mit.edu 37 5 140731246 140731246 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:140731246C>T ENST00000523390.1 + 1 1419 c.1419C>T c.(1417-1419)tcC>tcT p.S473S PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron NM_018922.2|NM_032095.1 NP_061745.1|NP_115266.1 central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1) 16 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TAAGCGCCTCCGACCCGGATT 0.582000 21 50 0 0 1 0 0 USP6 9098 broad.mit.edu 37 17 5050425 5050425 + Missense_Mutation SNP T T A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:5050425T>A ENST00000574788.1 + 29 4597 c.2367T>A c.(2365-2367)ttT>ttA p.F789L USP6_ENST00000250066.6_Missense_Mutation_p.F789L|USP6_ENST00000332776.4_Intron|USP6_ENST00000304328.5_Missense_Mutation_p.F472L P35125 UBP6_HUMAN ubiquitin specific peptidase 6 (Tre-2 oncogene) 789 protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process lysosome|plasma membrane|recycling endosome calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 34 TGAGCGGATTTTTGTGTGCAT 0.403000 T """COL1A1, CDH11, ZNF9, OMD""" aneurysmal bone cysts 56 118 0 0 1 0 0 PCDHA3 56145 broad.mit.edu 37 5 140182605 140182605 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:140182605C>T ENST00000522353.2 + 1 1823 c.1823C>T c.(1822-1824)tCg>tTg p.S608L PCDHA3_ENST00000532566.2_Missense_Mutation_p.S608L|PCDHA2_ENST00000520672.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron NM_018906.2 NP_061729.1 NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1) 95 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCGTGGCTTTCGTATGAGCTG 0.677000 47 140 0 0 1 0 0 GRM1 2911 broad.mit.edu 37 6 146673594 146673594 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:146673594G>A ENST00000392299.2 + 5 1865 c.1395G>A c.(1393-1395)gaG>gaA p.E465E GRM1_ENST00000361719.2_Silent_p.E465E|GRM1_ENST00000492807.2_Silent_p.E465E|GRM1_ENST00000282753.1_Silent_p.E465E|GRM1_ENST00000507907.1_Silent_p.E465E|GRM1_ENST00000355289.4_Silent_p.E465E Q13255 GRM1_HUMAN glutamate receptor, metabotropic 1 465 synaptic transmission integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1) 126 Ovarian(120;0.0387) OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762) Acamprosate(DB00659)|L-Glutamic Acid(DB00142) TATCTGGAGAGGAGGTGTGGT 0.522000 185 98 0 0 1 0 0 GADD45A 1647 broad.mit.edu 37 1 68151213 68151213 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:68151213G>A ENST00000370986.4 + 1 470 c.36G>A c.(34-36)aaG>aaA p.K12K GADD45A_ENST00000460575.1_3'UTR|GADD45A_ENST00000370985.3_Silent_p.K12K NM_001924.3 NP_001915.1 P24522 GA45A_HUMAN growth arrest and DNA-damage-inducible, alpha 12 apoptosis|cell cycle arrest|cellular response to ionizing radiation|cellular response to mechanical stimulus|DNA repair|positive regulation of reactive oxygen species metabolic process|regulation of cyclin-dependent protein kinase activity|signal transduction in response to DNA damage nucleus protein binding lung(2)|ovary(2) 4 GAGAGCAGAAGACCGAAAGGT 0.647000 4 16 0 0 1 0 0 TMEM55B 90809 broad.mit.edu 37 14 20929460 20929460 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr14:20929460G>A ENST00000250489.4 - 1 311 c.25C>T c.(25-27)Ccg>Tcg p.P9S TMEM55B_ENST00000398020.4_Missense_Mutation_p.P9S Q86T03 TM55B_HUMAN transmembrane protein 55B 9 integral to membrane|late endosome membrane|lysosomal membrane hydrolase activity endometrium(3)|kidney(2)|large_intestine(2)|lung(3)|prostate(1) 11 all_cancers(95;0.00123) all_lung(585;0.235) Epithelial(56;1.09e-07)|all cancers(55;1.19e-06) GBM - Glioblastoma multiforme(265;0.0224)|READ - Rectum adenocarcinoma(17;0.193) GACAGCAGCGGGGAACGCTCT 0.761000 8 13 0 0 1 0 0 TAS1R1 80835 broad.mit.edu 37 1 6637104 6637104 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:6637104G>A ENST00000333172.6 + 5 1761 c.1568G>A c.(1567-1569)gGg>gAg p.G523E TAS1R1_ENST00000351136.3_Missense_Mutation_p.G269E|TAS1R1_ENST00000328191.4_Intron NM_138697.3 NP_619642.2 Q7RTX1 TS1R1_HUMAN taste receptor, type 1, member 1 523 sensory perception of umami taste plasma membrane protein heterodimerization activity|taste receptor activity NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(13)|ovary(1)|skin(1)|urinary_tract(2) 29 Ovarian(185;0.0212)|all_lung(157;0.154) all_cancers(23;8.73e-34)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443) Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642) GTGCCCTGTGGGGCTGGGACC 0.607000 21 56 0 0 1 0 0 IDE 3416 broad.mit.edu 37 10 94267901 94267901 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:94267901G>A ENST00000265986.6 - 8 1178 c.1122C>T c.(1120-1122)atC>atT p.I374I NM_004969.3 NP_004960.2 P14735 IDE_HUMAN insulin-degrading enzyme 374 beta-amyloid metabolic process|bradykinin catabolic process|interspecies interaction between organisms|sex differentiation cell surface|extracellular space|soluble fraction ATP binding|metalloendopeptidase activity|protein homodimerization activity|signal transducer activity|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|urinary_tract(2) 33 Bacitracin(DB00626)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) CCACATTAATGATAAAAAACA 0.343000 59 159 0 0 1 0 0 KCNH4 23415 broad.mit.edu 37 17 40315637 40315637 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:40315637C>T ENST00000264661.3 - 13 2796 c.2464G>A c.(2464-2466)Gac>Aac p.D822N KCNH4_ENST00000607371.1_Missense_Mutation_p.D822N NM_012285.2 NP_036417.1 Q9UQ05 KCNH4_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 4 822 regulation of transcription, DNA-dependent voltage-gated potassium channel complex two-component sensor activity|voltage-gated potassium channel activity autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1) 32 all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.126) GGACTGAGGTCCGGAGGTCCA 0.632000 10 24 0 0 1 0 0 C12orf36 283422 broad.mit.edu 37 12 13526298 13526298 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:13526298C>T ENST00000318426.2 - 3 474 c.257G>A c.(256-258)cGa>cAa p.R86Q C12orf36_ENST00000527705.2_Missense_Mutation_p.R86Q chromosome 12 open reading frame 36 lung(3)|skin(3) 6 BRCA - Breast invasive adenocarcinoma(232;0.198) GGGAGGAGCTCGTGCAATCCA 0.458000 58 113 0 0 1 0 0 ANKHD1 54882 broad.mit.edu 37 5 139908692 139908692 + Missense_Mutation SNP C C T rs146411620 TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:139908692C>T ENST00000297183.6 + 29 6285 c.6161C>T c.(6160-6162)tCt>tTt p.S2054F ANKHD1-EIF4EBP3_ENST00000532219.1_Missense_Mutation_p.S2054F|ANKHD1_ENST00000544120.1_Missense_Mutation_p.S437F|ANKHD1_ENST00000360839.2_Missense_Mutation_p.S2054F NM_020690.5 NP_065741.3 ankyrin repeat and KH domain containing 1 breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2) 60 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGCAGTAGCTCTGCCAGCAAC 0.537000 46 101 0 0 1 0 0 SNHG14 104472715 broad.mit.edu 37 15 25427583 25427583 + RNA SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr15:25427583C>T ENST00000424208.1 + 0 272 SNHG14_ENST00000365306.1_RNA NR_003305.1 ACTTAAAAATCATGCTCAATA 0.522000 103 306 0 0 1 0 0 SLC25A51 92014 broad.mit.edu 37 9 37887836 37887836 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:37887836G>A ENST00000377716.2 - 3 1455 c.712C>T c.(712-714)Cgc>Tgc p.R238C SLC25A51_ENST00000242275.6_Missense_Mutation_p.R238C|RP11-613M10.9_ENST00000540557.1_Intron|SLC25A51_ENST00000496760.1_Intron|SLC25A51_ENST00000380590.3_Missense_Mutation_p.R238C Q9H1U9 MCAR1_HUMAN solute carrier family 25, member 51 238 transport integral to membrane|mitochondrial inner membrane GACTGTATGCGAGTTTTTACA 0.408000 28 71 0 0 1 0 0 BLM 641 broad.mit.edu 37 15 91298084 91298084 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr15:91298084C>T ENST00000355112.3 + 5 1121 c.1003C>T c.(1003-1005)Ctt>Ttt p.L335F BLM_ENST00000560509.1_Missense_Mutation_p.L335F NM_000057.2 NP_000048.1 P54132 BLM_HUMAN Bloom syndrome, RecQ helicase-like 335 double-strand break repair via homologous recombination|G2 phase of mitotic cell cycle|G2/M transition DNA damage checkpoint|negative regulation of cell division|positive regulation of transcription, DNA-dependent|protein oligomerization|regulation of cyclin-dependent protein kinase activity|replication fork processing|replication fork protection|response to X-ray cytoplasm|lateral element|nuclear matrix|nucleolus|PML body ATP binding|bubble DNA binding|DNA strand annealing activity|four-way junction helicase activity|G-quadruplex DNA binding|p53 binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(11)|liver(4)|lung(9)|ovary(6)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 Lung NSC(78;0.0875)|all_lung(78;0.109) Lung(145;0.189) AGAGGATGTTCTTAGCACATC 0.368000 """Mis, N, F""" """leukemia, lymphoma, skin squamous cell , other cancers""" Genes defective in diseases associated with sensitivity to DNA damaging agents Bloom syndrome 16 45 0 0 1 0 0 OR51Q1 390061 broad.mit.edu 37 11 5443912 5443912 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:5443912C>T ENST00000300778.4 + 1 572 c.482C>T c.(481-483)tCc>tTc p.S161F HBG2_ENST00000380252.1_Intron|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380259.2_Intron|AC104389.28_ENST00000415970.1_RNA NM_001004757.2 NP_001004757.1 Q8NH59 O51Q1_HUMAN olfactory receptor, family 51, subfamily Q, member 1 (gene/pseudogene) 161 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|kidney(2)|large_intestine(3)|liver(2)|lung(21)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2) 37 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;2.18e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) GTTCTTCCCTCCCTTTTCTTA 0.522000 112 74 0 0 1 0 0 ITGA8 8516 broad.mit.edu 37 10 15646221 15646221 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:15646221C>T ENST00000378076.3 - 20 2457 c.2104G>A c.(2104-2106)Gaa>Aaa p.E702K ITGA8_ENST00000477064.1_5'UTR NM_003638.1 NP_003629.1 P53708 ITA8_HUMAN integrin, alpha 8 702 cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development integrin complex receptor activity NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 96 TTGTTGCGTTCGATTCCAACA 0.383000 46 94 0 0 1 0 0 UBA7 7318 broad.mit.edu 37 3 49848717 49848717 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:49848717C>T ENST00000333486.3 - 9 1269 c.1111G>A c.(1111-1113)Gaa>Aaa p.E371K NM_003335.2 NP_003326.2 P41226 UBA7_HUMAN ubiquitin-like modifier activating enzyme 7 371 2 approximate repeats. GVLSPMVAMLGAVAAQEVLKAISR -> RCLEPMVACWVSS CPGSAEGNLQ (in Ref. 1; AAA75388 and 2; AAG49557). ISG15-protein conjugation|negative regulation of type I interferon production cytosol ATP binding|ISG15 activating enzyme activity|ligase activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(15)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1) 33 BRCA - Breast invasive adenocarcinoma(193;3.58e-06)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607) TTCAGCACTTCCTGGGCAGCT 0.607000 24 64 0 0 1 0 0 GABRA5 2558 broad.mit.edu 37 15 27114398 27114398 + Translation_Start_Site SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr15:27114398G>A ENST00000335625.5 + 3 891 c.3G>A c.(1-3)atG>atA p.M1I GABRB3_ENST00000541819.2_Intron|GABRA5_ENST00000400081.3_Start_Codon_SNP_p.M1I|GABRA5_ENST00000557449.1_3'UTR|GABRA5_ENST00000355395.5_Start_Codon_SNP_p.M1I NM_000810.3 NP_000801.1 P31644 GBRA5_HUMAN gamma-aminobutyric acid (GABA) A receptor, alpha 5 1 gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(1)|upper_aerodigestive_tract(1) 49 all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227) all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182) Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) TATTGGGAATGGACAATGGAA 0.398000 23 76 0 0 1 0 0 LRRC37A16P 651250 broad.mit.edu 37 17 66131514 66131514 + RNA SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:66131514C>T ENST00000590019.1 - 0 298 TTCACCTGGCCCCGGATCTTG 0.637000 20 39 0 0 1 0 0 SLC9C2 284525 broad.mit.edu 37 1 173542447 173542447 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:173542447G>A ENST00000367714.3 - 9 1342 c.920C>T c.(919-921)tCa>tTa p.S307L SLC9C2_ENST00000536496.1_Missense_Mutation_p.S205L|RP3-436N22.3_ENST00000431459.1_RNA|SLC9C2_ENST00000466087.1_5'UTR NM_178527.3 NP_848622.2 Q5TAH2 S9A11_HUMAN solute carrier family 9, member C2 (putative) 307 sodium ion transport integral to membrane ion channel activity|solute:hydrogen antiporter activity ATATACAGATGAAAAAATTCT 0.264000 23 52 0 0 1 0 0 CASC4 113201 broad.mit.edu 37 15 44671903 44671903 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr15:44671903C>T ENST00000299957.6 + 7 1117 c.818C>T c.(817-819)cCt>cTt p.P273L CASC4_ENST00000345795.2_Missense_Mutation_p.P273L|CASC4_ENST00000360824.3_3'UTR NM_138423.3 NP_612432.2 Q6P4E1 CASC4_HUMAN cancer susceptibility candidate 4 273 integral to membrane NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(7)|ovary(1)|urinary_tract(2) 17 all_cancers(109;1.69e-13)|all_epithelial(112;3.94e-11)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.027) all cancers(107;2.91e-20)|GBM - Glioblastoma multiforme(94;1.57e-06)|COAD - Colon adenocarcinoma(120;0.217)|Colorectal(105;0.237) AGGAAGCCTCCTATTTCAGTT 0.348000 50 154 0 0 1 0 0 PABPC4 8761 broad.mit.edu 37 1 40030161 40030161 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:40030161G>A ENST00000372857.3 - 10 2179 c.1387C>T c.(1387-1389)Cgc>Tgc p.R463C PABPC4_ENST00000372862.3_Missense_Mutation_p.R463C|PABPC4_ENST00000372858.3_Missense_Mutation_p.R463C|PABPC4_ENST00000372856.3_Missense_Mutation_p.R463C NM_003819.3 NP_003810.1 Q13310 PABP4_HUMAN poly(A) binding protein, cytoplasmic 4 (inducible form) 463 blood coagulation|RNA catabolic process|RNA processing|translation cytoplasm|ribonucleoprotein complex nucleotide binding|poly(A) RNA binding|poly(U) RNA binding|protein binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|prostate(1)|skin(3) 21 Lung NSC(20;1.55e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;2.89e-18)|Epithelial(16;6.17e-17)|all cancers(16;1.18e-15)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457) GCCAGATGGCGAAGAGTTGGA 0.542000 56 96 0 0 1 0 0 CR2 1380 broad.mit.edu 37 1 207642049 207642049 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:207642049C>T ENST00000367057.3 + 3 812 c.623C>T c.(622-624)cCc>cTc p.P208L CR2_ENST00000367058.3_Missense_Mutation_p.P208L|CR2_ENST00000485707.1_3'UTR|CR2_ENST00000458541.2_Missense_Mutation_p.P208L|CR2_ENST00000367059.3_Missense_Mutation_p.P208L NM_001006658.2 NP_001006659.1 P20023 CR2_HUMAN complement component (3d/Epstein Barr virus) receptor 2 208 Sushi 3. complement activation, classical pathway|innate immune response integral to membrane|plasma membrane complement receptor activity|protein homodimerization activity NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1) 69 GCTGTCCCCCCCACATGTGAA 0.403000 110 147 0 0 1 0 0 CYP2S1 29785 broad.mit.edu 37 19 41707266 41707266 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:41707266C>T ENST00000310054.4 + 6 1181 c.965C>T c.(964-966)cCt>cTt p.P322L CYP2S1_ENST00000542619.1_Missense_Mutation_p.P47L NM_030622.6 NP_085125.1 Q96SQ9 CP2S1_HUMAN cytochrome P450, family 2, subfamily S, polypeptide 1 322 xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(2) 14 ATGAAATACCCTCATGTCCAA 0.507000 50 149 0 0 1 0 0 HIPK2 28996 broad.mit.edu 37 7 139305155 139305155 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:139305155G>A ENST00000406875.3 - 7 1868 c.1774C>T c.(1774-1776)Cac>Tac p.H592Y HIPK2_ENST00000428878.2_Missense_Mutation_p.H592Y|HIPK2_ENST00000342645.6_Missense_Mutation_p.H592Y NM_022740.4 NP_073577.3 Q9H2X6 HIPK2_HUMAN homeodomain interacting protein kinase 2 592 Interaction with SKI and SMAD1. apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|negative regulation of BMP signaling pathway|positive regulation of JNK cascade|positive regulation of transforming growth factor beta receptor signaling pathway|SMAD protein signal transduction|transcription, DNA-dependent|virus-host interaction centrosome|nuclear membrane|PML body ATP binding|protein serine/threonine kinase activity|SMAD binding|transcription corepressor activity|virion binding breast(4)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 Melanoma(164;0.205) ACCTGGTTGTGGACAGTGGTC 0.537000 54 98 0 0 1 0 0 CCDC68 80323 broad.mit.edu 37 18 52610002 52610002 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr18:52610002G>A ENST00000591504.1 - 3 295 c.21C>T c.(19-21)acC>acT p.T7T CCDC68_ENST00000337363.4_Silent_p.T7T|CCDC68_ENST00000432185.1_Silent_p.T7T NM_025214.2 NP_079490.1 Q9H2F9 CCD68_HUMAN coiled-coil domain containing 68 7 breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(3)|stomach(1) 14 Colorectal(16;0.0256)|READ - Rectum adenocarcinoma(59;0.21) GAATTTCTGTGGTCACTGTCA 0.368000 6 113 0 0 1 0 0 HYAL4 23553 broad.mit.edu 37 7 123517147 123517147 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:123517147C>T ENST00000223026.4 + 5 2022 c.1384C>T c.(1384-1386)Cct>Tct p.P462S HYAL4_ENST00000476325.1_Missense_Mutation_p.P462S NM_012269.2 NP_036401.2 Q2M3T9 HYAL4_HUMAN hyaluronoglucosaminidase 4 462 fusion of sperm to egg plasma membrane|glycosaminoglycan catabolic process integral to membrane hyalurononglucosaminidase activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 23 TTCCCCTTCTCCTGGTTCACT 0.433000 66 160 0 0 1 0 0 ABCC6 368 broad.mit.edu 37 16 16295914 16295914 + Missense_Mutation SNP G G A rs74315156 TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr16:16295914G>A ENST00000205557.7 - 9 1149 c.1120C>T c.(1120-1122)Ctc>Ttc p.L374F ABCC6_ENST00000574094.1_5'UTR NM_001171.5 NP_001162.4 O95255 MRP6_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 6 374 ABC transmembrane type-1 1. response to drug|visual perception integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1) 43 UCEC - Uterine corpus endometrioid carcinoma (3;0.123) AGCACCTTGAGCCTGTACATG 0.592000 63 101 0 0 1 0 0 ITGA1 3672 broad.mit.edu 37 5 52235472 52235472 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:52235472G>A ENST00000282588.6 + 25 3589 c.3131G>A c.(3130-3132)gGa>gAa p.G1044E CTD-2175A23.1_ENST00000505701.1_RNA|CTD-2175A23.1_ENST00000503559.1_RNA NM_181501.1 NP_852478.1 P56199 ITA1_HUMAN integrin, alpha 1 1044 axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|muscle contraction integrin complex collagen binding|receptor activity NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(19)|ovary(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 Lung NSC(810;5.05e-05)|Breast(144;0.0851) ATCAACTCTGGAAAGAAAATG 0.348000 19 41 0 0 1 0 0 GRXCR2 643226 broad.mit.edu 37 5 145252341 145252341 + Missense_Mutation SNP A A T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:145252341A>T ENST00000377976.1 - 1 190 c.191T>A c.(190-192)gTt>gAt p.V64D NM_001080516.1 NP_001073985.1 A6NFK2 GRCR2_HUMAN glutaredoxin, cysteine rich 2 64 breast(1)|endometrium(1)|large_intestine(2)|lung(1)|urinary_tract(2) 7 AGACCCATAAACACCATCCAT 0.498000 30 75 0 0 1 0 0 ME1 4199 broad.mit.edu 37 6 83926232 83926232 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:83926232C>T ENST00000369705.3 - 13 1649 c.1533G>A c.(1531-1533)ctG>ctA p.L511L ME1_ENST00000543031.1_Silent_p.L436L|ME1_ENST00000541327.1_Silent_p.L345L NM_002395.4 NP_002386.1 P48163 MAOX_HUMAN malic enzyme 1, NADP(+)-dependent, cytosolic 511 carbohydrate metabolic process|cellular lipid metabolic process|malate metabolic process|NADP biosynthetic process|response to carbohydrate stimulus|response to hormone stimulus cytosol ADP binding|electron carrier activity|malate dehydrogenase (oxaloacetate-decarboxylating) (NADP+) activity|manganese ion binding|NAD binding|NADP binding NS(2)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 36 all_cancers(76;1.28e-06)|Acute lymphoblastic leukemia(125;5.03e-07)|all_hematologic(105;0.000238)|all_epithelial(107;0.00218) BRCA - Breast invasive adenocarcinoma(397;0.0641) NADH(DB00157) CTGCAATTTTCAGAGAAACAT 0.328000 47 123 0 0 1 0 0 GFRA2 2675 broad.mit.edu 37 8 21608168 21608168 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:21608168G>A ENST00000524240.1 - 4 1376 c.726C>T c.(724-726)tcC>tcT p.S242S GFRA2_ENST00000518077.1_Silent_p.S109S|GFRA2_ENST00000400782.4_Silent_p.S137S|GFRA2_ENST00000517328.1_Silent_p.S242S NM_001495.4 NP_001486.4 O00451 GFRA2_HUMAN GDNF family receptor alpha 2 242 anchored to membrane|extrinsic to membrane|plasma membrane glial cell-derived neurotrophic factor receptor activity NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|prostate(1)|skin(1) 7 Colorectal(74;0.0189)|COAD - Colon adenocarcinoma(73;0.0727) TGTCCTCATAGGAGCAGCTGG 0.672000 20 26 0 0 1 0 0 DALRD3 55152 broad.mit.edu 37 3 49055127 49055127 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:49055127G>A ENST00000440857.1 - 4 838 c.136C>T c.(136-138)Cta>Tta p.L46L DALRD3_ENST00000341949.4_Silent_p.L213L|DALRD3_ENST00000496568.1_5'UTR|DALRD3_ENST00000441576.2_Silent_p.L213L|DALRD3_ENST00000395462.4_Silent_p.L46L|DALRD3_ENST00000313778.5_Silent_p.L46L Q5D0E6 DALD3_HUMAN DALR anticodon binding domain containing 3 213 arginyl-tRNA aminoacylation cytoplasm arginine-tRNA ligase activity|ATP binding breast(2)|endometrium(2)|large_intestine(2)|lung(5)|skin(1) 12 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244) AGTCTGCCTAGGATGCCAGGG 0.602000 7 138 0 0 1 0 0 RTTN 25914 broad.mit.edu 37 18 67684703 67684703 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr18:67684703G>A ENST00000255674.6 - 46 6647 c.6361C>T c.(6361-6363)Ctt>Ttt p.L2121F RTTN_ENST00000454359.1_3'UTR NM_173630.3 NP_775901.3 Q86VV8 RTTN_HUMAN rotatin 2121 binding NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 80 Esophageal squamous(42;0.129) AAGATAAGAAGAGGCAATAAA 0.383000 43 80 0 0 1 0 0 CACNA1A 773 broad.mit.edu 37 19 13386749 13386749 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:13386749G>A ENST00000360228.5 - 24 3903 c.3904C>T c.(3904-3906)Ctg>Ttg p.L1302L CACNA1A_ENST00000573710.2_Silent_p.L1303L NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2 NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2 O00555 CAC1A_HUMAN calcium channel, voltage-dependent, P/Q type, alpha 1A subunit 1303 cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion cytoplasm|nucleus syntaxin binding breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1) 42 OV - Ovarian serous cystadenocarcinoma(19;5.07e-21) Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230) CCCTGATGCAGGACGAGCCCC 0.587000 15 34 0 0 1 0 0 OR2F2 135948 broad.mit.edu 37 7 143632848 143632848 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:143632848G>A ENST00000408955.2 + 1 590 c.523G>A c.(523-525)Gat>Aat p.D175N NM_001004685.1 NP_001004685.1 O95006 OR2F2_HUMAN olfactory receptor, family 2, subfamily F, member 2 175 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(19)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1) 32 Melanoma(164;0.0903) CAAGTTTATTGATCACATATC 0.498000 38 132 0 0 1 0 0 GLIS3 169792 broad.mit.edu 37 9 4125879 4125879 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:4125879C>T ENST00000381971.3 - 3 1044 c.451G>A c.(451-453)Gtc>Atc p.V151I GLIS3_ENST00000324333.10_5'UTR NM_001042413.1 NP_001035878.1 Q8NEA6 GLIS3_HUMAN GLIS family zinc finger 3 0 Ser-rich. negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter DNA binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(12)|lung(4)|ovary(2)|prostate(1)|skin(1) 26 Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148) Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148) CTGCTGGTGACCACTAGATTG 0.498000 38 42 0 0 1 0 0 COL6A3 1293 broad.mit.edu 37 2 238285527 238285527 + Silent SNP G G A rs145203676 TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:238285527G>A ENST00000295550.4 - 7 3410 c.2958C>T c.(2956-2958)atC>atT p.I986I COL6A3_ENST00000472056.1_Silent_p.I379I|COL6A3_ENST00000392004.3_Silent_p.I780I|COL6A3_ENST00000353578.4_Silent_p.I780I|COL6A3_ENST00000346358.4_Silent_p.I786I|COL6A3_ENST00000347401.3_Silent_p.I785I|COL6A3_ENST00000392003.2_Silent_p.I579I|COL6A3_ENST00000409809.1_Silent_p.I780I NM_004369.3 NP_004360.2 P12111 CO6A3_HUMAN collagen, type VI, alpha 3 986 Nonhelical region.|VWFA 5. axon guidance|cell adhesion|muscle organ development collagen type VI|extracellular space serine-type endopeptidase inhibitor activity breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4) 217 Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203) Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034) GAGACAGCACGATCTGCTCTA 0.512000 101 194 0 0 1 0 0 KCNB2 9312 broad.mit.edu 37 8 73480374 73480374 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:73480374C>T ENST00000523207.1 + 2 993 c.405C>T c.(403-405)tcC>tcT p.S135S NM_004770.2 NP_004761.2 Q92953 KCNB2_HUMAN potassium voltage-gated channel, Shab-related subfamily, member 2 135 regulation of smooth muscle contraction voltage-gated potassium channel complex delayed rectifier potassium channel activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1) 85 Breast(64;0.137) Epithelial(68;0.105) ACTTGGAGTCCTGCTGCCAGG 0.458000 10 132 0 0 1 0 0 PLXDC2 84898 broad.mit.edu 37 10 20508005 20508005 + Missense_Mutation SNP T T A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:20508005T>A ENST00000377252.3 + 12 2127 c.1286T>A c.(1285-1287)aTa>aAa p.I429K PLXDC2_ENST00000377242.3_Missense_Mutation_p.I380K|PLXDC2_ENST00000377238.2_3'UTR NM_032812.7 NP_116201.7 Q6UX71 PXDC2_HUMAN plexin domain containing 2 429 integral to membrane breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(9)|ovary(2)|skin(3)|stomach(1) 34 GATACCAAGATAGCACTACAT 0.279000 15 35 0 0 1 0 0 THSD7B 80731 broad.mit.edu 37 2 138373854 138373854 + Missense_Mutation SNP A A G TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:138373854A>G ENST00000409968.1 + 18 3711 c.3533A>G c.(3532-3534)gAa>gGa p.E1178G THSD7B_ENST00000272643.3_Missense_Mutation_p.E1181G|THSD7B_ENST00000413152.2_Missense_Mutation_p.E1150G|THSD7B_ENST00000543459.1_Intron thrombospondin, type I, domain containing 7B NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 134 BRCA - Breast invasive adenocarcinoma(221;0.19) CTCCTGAATGAAAATTGCTTC 0.458000 52 139 0 0 1 0 0 ACOT12 134526 broad.mit.edu 37 5 80641768 80641768 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:80641768C>T ENST00000307624.3 - 7 737 c.709G>A c.(709-711)Gga>Aga p.G237R NM_130767.2 NP_570123.1 Q8WYK0 ACO12_HUMAN acyl-CoA thioesterase 12 237 Acyl coenzyme A hydrolase 2. acyl-CoA metabolic process|fatty acid metabolic process cytosol acetyl-CoA hydrolase activity|carboxylesterase activity cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2) 23 Lung NSC(167;0.0176)|all_lung(232;0.0205)|Ovarian(174;0.135) OV - Ovarian serous cystadenocarcinoma(54;1.37e-45)|Epithelial(54;1.25e-39)|all cancers(79;5.01e-34) GTAGATGGTCCCCGGAACTTA 0.468000 27 54 0 0 1 0 0 PTCHD2 57540 broad.mit.edu 37 1 11596717 11596717 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:11596717C>T ENST00000294484.6 + 21 4291 c.4153C>T c.(4153-4155)Ccc>Tcc p.P1385S PTCHD2_ENST00000304391.6_3'UTR|PTCHD2_ENST00000389575.3_Missense_Mutation_p.P1385S NM_020780.1 NP_065831.1 Q9P2K9 PTHD2_HUMAN patched domain containing 2 1385 cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway endoplasmic reticulum|integral to membrane|nuclear membrane hedgehog receptor activity NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 76 Ovarian(185;0.249) Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549) CTATAAGATTCCCCTGCCCGC 0.672000 5 11 0 0 1 0 0 PDE1A 5136 broad.mit.edu 37 2 183104888 183104888 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:183104888G>A ENST00000435564.1 - 3 547 c.347C>T c.(346-348)cCa>cTa p.P116L PDE1A_ENST00000346717.4_Missense_Mutation_p.P82L|PDE1A_ENST00000331935.6_Missense_Mutation_p.P116L|PDE1A_ENST00000410103.1_Missense_Mutation_p.P116L|PDE1A_ENST00000482538.1_5'UTR|PDE1A_ENST00000351439.5_Missense_Mutation_p.P100L|PDE1A_ENST00000358139.2_Missense_Mutation_p.P116L|PDE1A_ENST00000409365.1_Missense_Mutation_p.P100L|PDE1A_ENST00000456212.1_Missense_Mutation_p.P116L|PDE1A_ENST00000536095.1_Missense_Mutation_p.P12L NM_001258312.1|NM_005019.4 NP_001245241.1|NP_005010.2 P54750 PDE1A_HUMAN phosphodiesterase 1A, calmodulin-dependent 116 activation of phospholipase C activity|nerve growth factor receptor signaling pathway|platelet activation cytosol 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding endometrium(5)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(2) 35 OV - Ovarian serous cystadenocarcinoma(117;0.061) CCGAAATTTTGGTTTTTCCTC 0.423000 44 91 0 0 1 0 0 PIGN 23556 broad.mit.edu 37 18 59828495 59828495 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr18:59828495C>T ENST00000357637.5 - 4 507 c.92G>A c.(91-93)gGa>gAa p.G31E PIGN_ENST00000400334.3_Missense_Mutation_p.G31E NM_176787.4 NP_789744.1 O95427 PIGN_HUMAN phosphatidylinositol glycan anchor biosynthesis, class N 31 C-terminal protein lipidation|preassembly of GPI anchor in ER membrane endoplasmic reticulum membrane|integral to membrane phosphotransferase activity, for other substituted phosphate groups breast(3)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 22 Colorectal(73;0.187) AGGAGTCATTCCATGAACCAA 0.408000 17 43 0 0 1 0 0 OR13C5 138799 broad.mit.edu 37 9 107361415 107361415 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:107361415G>A ENST00000374779.2 - 1 373 c.280C>T c.(280-282)Ctt>Ttt p.L94F NM_001004482.1 NP_001004482.1 Q8NGS8 O13C5_HUMAN olfactory receptor, family 13, subfamily C, member 5 94 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(4)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(4) 28 CAGCCAGAAAGGGAAATGGTC 0.522000 26 99 0 0 1 0 0 ZNF713 349075 broad.mit.edu 37 7 56007245 56007245 + Missense_Mutation SNP A A T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:56007245A>T ENST00000429591.2 + 4 877 c.839A>T c.(838-840)aAa>aTa p.K280I MRPS17_ENST00000426595.1_Intron NM_182633.1 NP_872439.1 Q8N859 ZN713_HUMAN zinc finger protein 713 280 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 25 Breast(14;0.214) Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099) GAATGTGGAAAAAGATTCAGC 0.463000 21 64 0 0 1 0 0 GIT2 9815 broad.mit.edu 37 12 110429559 110429559 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:110429559G>A ENST00000360185.4 - 2 223 c.59C>T c.(58-60)tCc>tTc p.S20F GIT2_ENST00000356259.4_Missense_Mutation_p.S20F|GIT2_ENST00000361006.5_Missense_Mutation_p.S20F|GIT2_ENST00000343646.5_Missense_Mutation_p.S20F|GIT2_ENST00000354574.4_Missense_Mutation_p.S20F|GIT2_ENST00000547815.1_Missense_Mutation_p.S20F|GIT2_ENST00000551209.1_Missense_Mutation_p.S20F|GIT2_ENST00000355312.3_Missense_Mutation_p.S20F|GIT2_ENST00000338373.5_Missense_Mutation_p.S20F|GIT2_ENST00000320063.9_Missense_Mutation_p.S20F|GIT2_ENST00000457474.2_Missense_Mutation_p.S20F|GIT2_ENST00000553118.1_Missense_Mutation_p.S20F Q14161 GIT2_HUMAN G protein-coupled receptor kinase interacting ArfGAP 2 20 Arf-GAP. regulation of ARF GTPase activity|regulation of G-protein coupled receptor protein signaling pathway nucleoplasm ARF GTPase activator activity|protein binding|zinc ion binding NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(8)|skin(4) 27 TGATGCCCAGGAAGGATCTGG 0.478000 21 72 0 0 1 0 0 EPHA2 1969 broad.mit.edu 37 1 16462214 16462214 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:16462214G>A ENST00000358432.5 - 6 1518 c.1364C>T c.(1363-1365)tCc>tTc p.S455F NM_004431.3 NP_004422.2 P29317 EPHA2_HUMAN EPH receptor A2 455 Fibronectin type-III 2. activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane ATP binding|ephrin receptor activity|protein binding NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 42 Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649) Dasatinib(DB01254) GATGCTCCAGGAGACGCTAAG 0.657000 33 96 0 0 1 0 0 SPATA31C1 441452 broad.mit.edu 37 9 90534183 90534183 + RNA SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:90534183C>T ENST00000602681.1 + 0 929 CATCTTGTCTCCCAGCGTCAT 0.617000 29 99 0 0 1 0 0 WDR65 149465 broad.mit.edu 37 1 43672537 43672537 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:43672537C>T ENST00000372492.4 + 10 2013 c.1689C>T c.(1687-1689)tcC>tcT p.S563S WDR65_ENST00000528956.1_Silent_p.S563S NM_001195831.2 NP_001182760.2 Q96MR6 WDR65_HUMAN WD repeat domain 65 563 NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 23 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) TTACTGTCTCCCCCGATGCCA 0.522000 38 117 0 0 1 0 0 GRM7 2917 broad.mit.edu 37 3 7620216 7620216 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:7620216C>T ENST00000486284.1 + 8 1897 c.1623C>T c.(1621-1623)tgC>tgT p.C541C GRM7_ENST00000389336.4_Silent_p.C541C|GRM7_ENST00000402647.2_Silent_p.C541C|GRM7_ENST00000458641.2_3'UTR|GRM7_ENST00000403881.1_Silent_p.C541C|GRM7_ENST00000357716.4_Silent_p.C541C NM_181874.2 NP_870989.1 Q14831 GRM7_HUMAN glutamate receptor, metabotropic 7 541 negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 76 L-Glutamic Acid(DB00142) GAACTCCTTGCTGTTGGACCT 0.512000 44 103 0 0 1 0 0 NF1 4763 broad.mit.edu 37 17 29654691 29654691 + Nonsense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:29654691C>T ENST00000358273.4 + 38 5826 c.5443C>T c.(5443-5445)Cag>Tag p.Q1815* NF1_ENST00000581113.2_3'UTR|NF1_ENST00000356175.3_Nonsense_Mutation_p.Q1794* NM_001042492.2 NP_001035957.1 P21359 NF1_HUMAN neurofibromin 1 1815 actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus protein binding|Ras GTPase activator activity p.0?(8)|p.?(3)|p.Q1815*(1)|p.H1814fs*43(1) NF1/ACCN1(2) autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9) 599 all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659) UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146) CTTCATGCACCAGGAGTGTGA 0.493000 """D, Mis, N, F, S, O""" """neurofibroma, glioma""" """neurofibroma, glioma""" Neurofibromatosis, type 1 TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088) 32 96 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9086637 9086637 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:9086637C>T ENST00000397910.4 - 1 5381 c.5178G>A c.(5176-5178)caG>caA p.Q1726Q NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 1726 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 CTGTATTTCCCTGTGTGTTCA 0.488000 49 102 0 0 1 0 0 TCOF1 6949 broad.mit.edu 37 5 149772311 149772311 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:149772311C>T ENST00000451292.1 + 23 3777 c.3669C>T c.(3667-3669)acC>acT p.T1223T TCOF1_ENST00000445265.2_Silent_p.T1110T|TCOF1_ENST00000504761.2_Silent_p.T1186T|TCOF1_ENST00000323668.7_Silent_p.T1109T|TCOF1_ENST00000439160.2_Silent_p.T1149T|TCOF1_ENST00000377797.3_Silent_p.T1187T|TCOF1_ENST00000513346.1_Silent_p.T1186T Q13428 TCOF_HUMAN Treacher Collins-Franceschetti syndrome 1 1186 skeletal system development nucleolus protein binding|transporter activity NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|skin(1) 35 all_hematologic(541;0.224) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) TGGAGGAGACCGCAGCAGAGT 0.647000 4 41 0 0 1 0 0 CADPS 8618 broad.mit.edu 37 3 62423848 62423848 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:62423848G>A ENST00000383710.4 - 28 4057 c.3708C>T c.(3706-3708)ttC>ttT p.F1236F CADPS_ENST00000357948.3_Silent_p.F1157F|CADPS_ENST00000283269.9_Silent_p.F1197F NM_003716.3 NP_003707.2 Q9ULU8 CAPS1_HUMAN Ca++-dependent secretion activator 1236 Mediates targeting and association with DCVs (By similarity). exocytosis|protein transport cell junction|cytoplasmic vesicle membrane|cytosol|synapse lipid binding|metal ion binding breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2) 92 Lung SC(41;0.0452) BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334) AATGGCGGACGAAAGTCACGT 0.448000 35 68 0 0 1 0 0 OR1F1 4992 broad.mit.edu 37 16 3254834 3254834 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr16:3254834G>A ENST00000304646.2 + 1 588 c.588G>A c.(586-588)gaG>gaA p.E196E AJ003147.9_ENST00000576468.1_RNA NM_012360.1 NP_036492.1 O43749 OR1F1_HUMAN olfactory receptor, family 1, subfamily F, member 1 196 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(1)|large_intestine(2)|lung(7) 11 ACCTCAATGAGGTCATAATCC 0.498000 9 151 0 0 1 0 0 MAML3 55534 broad.mit.edu 37 4 140641058 140641058 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:140641058G>A ENST00000509479.2 - 5 3692 c.2836C>T c.(2836-2838)Cct>Tct p.P946S MGST2_ENST00000515137.1_Intron NM_018717.4 NP_061187.2 Q96JK9 MAML3_HUMAN mastermind-like 3 (Drosophila) 942 Gln-rich. Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear speck transcription coactivator activity breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2) 25 all_hematologic(180;0.162) AGCCTTGGAGGGGCTTGGGGC 0.572000 7 162 0 0 1 0 0 ATRN 8455 broad.mit.edu 37 20 3557592 3557592 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr20:3557592G>A ENST00000262919.5 + 14 2369 c.2301G>A c.(2299-2301)ctG>ctA p.L767L ATRN_ENST00000446916.2_Silent_p.L767L NM_139321.2 NP_647537.1 O75882 ATRN_HUMAN attractin 767 PSI 2. inflammatory response extracellular space|integral to plasma membrane receptor activity|sugar binding breast(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 59 GCTGTGCCCTGGACCAGAACT 0.537000 50 123 0 0 1 0 0 FAM218A 152756 broad.mit.edu 37 4 165878378 165878378 + Silent SNP C C T rs145488590 by1000genomes TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:165878378C>T ENST00000513876.2 + 1 279 c.204C>T c.(202-204)ttC>ttT p.F68F TRIM61_ENST00000329314.5_Intron NM_153027.1 NP_694572.1 Q96MZ4 CD039_HUMAN family with sequence similarity 218, member A 68 CGACCACATTCGTCCAACAGC 0.592000 14 23 0 0 1 0 0 FAP 2191 broad.mit.edu 37 2 163055337 163055337 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:163055337C>T ENST00000188790.4 - 16 1539 c.1332G>A c.(1330-1332)agG>agA p.R444R FAP_ENST00000443424.1_Silent_p.R419R NM_004460.2 NP_004451.2 Q12884 SEPR_HUMAN fibroblast activation protein, alpha 444 endothelial cell migration|negative regulation of extracellular matrix disassembly|proteolysis cell junction|integral to membrane|invadopodium membrane|lamellipodium membrane dipeptidyl-peptidase activity|metalloendopeptidase activity|protein homodimerization activity|serine-type endopeptidase activity NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(34)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(4) 63 ACCTTTCTTTCCTTAGATGGC 0.408000 26 59 0 0 1 0 0 TDP2 51567 broad.mit.edu 37 6 24667044 24667044 + Missense_Mutation SNP T T C TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:24667044T>C ENST00000378198.4 - 1 217 c.47A>G c.(46-48)gAa>gGa p.E16G TDP2_ENST00000545995.1_Missense_Mutation_p.E46G O95551 TYDP2_HUMAN tyrosyl-DNA phosphodiesterase 2 16 cell surface receptor linked signaling pathway|double-strand break repair PML body 5'-tyrosyl-DNA phosphodiesterase activity|magnesium ion binding|nuclease activity|protein binding|transcription corepressor activity kidney(2)|large_intestine(1)|lung(5)|ovary(1) 9 CTCGCCCTCTTCCTCCGCCGC 0.657000 Direct reversal of damage 140 487 0 0 1 0 0 KRT34 3885 broad.mit.edu 37 17 39535324 39535324 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:39535324C>T ENST00000394001.1 - 6 1137 c.1107G>A c.(1105-1107)gaG>gaA p.E369E NM_021013.3 NP_066293.2 O76011 KRT34_HUMAN keratin 34 369 Coil 2.|Rod. epidermis development intermediate filament protein binding|structural molecule activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 Breast(137;0.000496) CACAGCGGATCTCTGCCAGCT 0.622000 80 123 0 0 1 0 0 DNAH7 56171 broad.mit.edu 37 2 196709855 196709855 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:196709855C>T ENST00000312428.6 - 47 8916 c.8816G>A c.(8815-8817)gGa>gAa p.G2939E NM_018897.2 NP_061720.2 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 2939 ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity p.G2939E(1) NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3) 205 GATATCTCTTCCTTTGCACAA 0.393000 19 34 0 0 1 0 0 TSG101 7251 broad.mit.edu 37 11 18541071 18541071 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:18541071G>A ENST00000536719.1 - 2 256 c.122C>T c.(121-123)tCa>tTa p.S41L TSG101_ENST00000357193.3_Intron|TSG101_ENST00000251968.3_Missense_Mutation_p.S41L Q99816 TS101_HUMAN tumor susceptibility 101 41 UEV. cell division|cellular membrane organization|endosome transport|interspecies interaction between organisms|non-lytic virus budding|protein transport|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway early endosome|late endosome membrane|multivesicular body|nucleolus|plasma membrane calcium-dependent protein binding|DNA binding|transcription corepressor activity|ubiquitin binding|ubiquitin protein ligase binding kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 22 CTCACCATATGAATCCAAAAC 0.303000 52 70 0 0 1 0 0 RUNDC3B 154661 broad.mit.edu 37 7 87370852 87370852 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:87370852C>T ENST00000338056.3 + 7 1048 c.637C>T c.(637-639)Cct>Tct p.P213S RUNDC3B_ENST00000496000.1_3'UTR|RUNDC3B_ENST00000394654.3_Missense_Mutation_p.P196S|RUNDC3B_ENST00000493037.1_Missense_Mutation_p.P196S NM_001134405.1|NM_138290.2 NP_001127877.1|NP_612147.1 Q96NL0 RUN3B_HUMAN RUN domain containing 3B 213 breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(2) 26 Esophageal squamous(14;0.00164) TGGCAGTTTTCCTGCTGTAAT 0.274000 22 51 0 0 1 0 0 CIITA 4261 broad.mit.edu 37 16 10997633 10997633 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr16:10997633C>T ENST00000324288.8 + 9 951 c.818C>T c.(817-819)aCt>aTt p.T273I CIITA_ENST00000537380.1_3'UTR|CIITA_ENST00000381835.5_Missense_Mutation_p.T224I NM_000246.3 NP_000237.2 P33076 C2TA_HUMAN class II, major histocompatibility complex, transactivator 273 interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|response to antibiotic|transcription, DNA-dependent nucleus activating transcription factor binding|ATP binding|protein C-terminus binding|protein complex binding|transcription coactivator activity|transcription regulatory region DNA binding central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2) 12 AGTGGATTCACTGTCCACGGC 0.602000 T """FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6""" """PMBL, Hodgkin Lymphona, """ 60 95 0 0 1 0 0 PRAMEF4 400735 broad.mit.edu 37 1 12941798 12941798 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:12941798G>A ENST00000235349.5 - 3 822 c.752C>T c.(751-753)tCc>tTc p.S251F NM_001009611.2 NP_001009611.1 O60810 PRAM4_HUMAN PRAME family member 4 251 breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(3)|skin(1) 24 Ovarian(185;0.249) Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) CTGCTCTGGGGAAACGTAGCG 0.488000 106 260 0 0 1 0 0 SNAP91 9892 broad.mit.edu 37 6 84375275 84375275 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:84375275G>A ENST00000428679.2 - 3 749 c.156C>T c.(154-156)acC>acT p.T52T SNAP91_ENST00000521743.1_Silent_p.T52T|SNAP91_ENST00000520302.1_Silent_p.T52T|SNAP91_ENST00000521485.1_Silent_p.T52T|SNAP91_ENST00000437520.1_Silent_p.T52T|SNAP91_ENST00000520213.1_Silent_p.T52T|SNAP91_ENST00000369694.2_Silent_p.T52T|SNAP91_ENST00000439399.2_Silent_p.T52T|SNAP91_ENST00000195649.6_Silent_p.T52T O60641 AP180_HUMAN synaptosomal-associated protein, 91kDa 52 ENTH. clathrin coat assembly clathrin coat|coated pit|plasma membrane 1-phosphatidylinositol binding|clathrin binding breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(22)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 37 all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575) BRCA - Breast invasive adenocarcinoma(397;0.0967) TATTAACATTGGTCTCGTTGG 0.363000 59 37 0 0 1 0 0 HIST1H1D 3007 broad.mit.edu 37 6 26234548 26234548 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:26234548G>A ENST00000244534.5 - 1 668 c.614C>T c.(613-615)tCg>tTg p.S205L NM_005320.2 NP_005311.1 P16402 H13_HUMAN histone cluster 1, H1d 205 nucleosome assembly nucleosome|nucleus DNA binding breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1) 23 all_hematologic(11;0.0945)|Acute lymphoblastic leukemia(11;0.167) CGGCTTCCCCGACTTAGGCTT 0.502000 46 177 0 0 1 0 0 OR7E24 26648 broad.mit.edu 37 19 9361733 9361733 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:9361733C>T ENST00000456448.1 + 1 128 c.14C>T c.(13-15)cCa>cTa p.P5L NM_001079935.1 NP_001073404.1 Q6IFN5 O7E24_HUMAN olfactory receptor, family 7, subfamily E, member 24 5 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2) 16 TCCTATTTTCCAATTCTCTTT 0.393000 8 12 0 0 1 0 0 DNAH8 1769 broad.mit.edu 37 6 38843379 38843379 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:38843379C>T ENST00000359357.3 + 51 7236 c.6982C>T c.(6982-6984)Ctg>Ttg p.L2328L DNAH8_ENST00000441566.1_Silent_p.L2292L|DNAH8_ENST00000449981.2_Silent_p.L2545L dynein, axonemal, heavy chain 8 NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4) 260 TCTCAATCTTCTGGAAGGGTT 0.303000 21 63 0 0 1 0 0 TOX2 84969 broad.mit.edu 37 20 42635228 42635228 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr20:42635228C>T ENST00000358131.5 + 3 442 c.234C>T c.(232-234)atC>atT p.I78I TOX2_ENST00000341197.3_Silent_p.I69I|TOX2_ENST00000423191.1_Silent_p.I27I|TOX2_ENST00000372999.1_Silent_p.I27I NM_001098798.1 NP_001092268.1 Q96NM4 TOX2_HUMAN TOX high mobility group box family member 2 78 Required for transcriptional activation (By similarity). regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2) 26 Myeloproliferative disorder(115;0.00452) COAD - Colon adenocarcinoma(18;0.00189) ACTATGAGATCCCCCCGATAA 0.582000 42 81 0 0 1 0 0 LRFN3 79414 broad.mit.edu 37 19 36435836 36435836 + Missense_Mutation SNP C C G TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:36435836C>G ENST00000588831.1 + 4 2856 c.1802C>G c.(1801-1803)cCg>cGg p.P601R LRFN3_ENST00000246529.3_Missense_Mutation_p.P601R Q9BTN0 LRFN3_HUMAN leucine rich repeat and fibronectin type III domain containing 3 601 cell adhesion axon|cell junction|dendrite|integral to membrane|postsynaptic membrane|presynaptic membrane cervix(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1) 12 all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.06) ccgcccgccccggagcccgcg 0.771000 6 13 0 0 1 0 0 TDGF1 6997 broad.mit.edu 37 3 46621317 46621317 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:46621317G>A ENST00000296145.5 + 4 1045 c.312G>A c.(310-312)cgG>cgA p.R104R TDGF1_ENST00000542931.1_Silent_p.R88R|LRRC2_ENST00000296144.3_Intron NM_003212.3 NP_003203.1 P13385 TDGF1_HUMAN teratocarcinoma-derived growth factor 1 104 EGF-like. activation of MAPK activity|anterior/posterior axis specification, embryo|mammary gland development|morphogenesis of a branching structure|negative regulation of apoptosis|peptidyl-serine phosphorylation|positive regulation of cell migration|positive regulation of peptidyl-tyrosine phosphorylation anchored to membrane|cell surface|extrinsic to plasma membrane growth factor activity cervix(2)|endometrium(1)|kidney(1)|lung(4) 8 BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0173)|Kidney(197;0.0204) TCTACGGACGGAACTGTGAGC 0.547000 70 138 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179615844 179615844 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:179615844C>T ENST00000360870.5 - 46 11505 c.11283G>A c.(11281-11283)aaG>aaA p.K3761K TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Intron|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000578746.1_RNA NM_133379.3 NP_596870.2 Q8WZ42 TITIN_HUMAN titin 9603 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.K3761K(1) NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) AATGATCTACCTTATAACTTT 0.363000 4 134 0 0 1 0 0 CDH7 1005 broad.mit.edu 37 18 63489451 63489451 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr18:63489451G>A ENST00000536984.2 + 5 1454 c.760G>A c.(760-762)Gat>Aat p.D254N CDH7_ENST00000397968.2_Missense_Mutation_p.D254N|CDH7_ENST00000323011.3_Missense_Mutation_p.D254N Q9ULB5 CADH7_HUMAN cadherin 7, type 2 254 Cadherin 2. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2) 80 Esophageal squamous(42;0.129) GACCCTAACTGATGTCAACGA 0.398000 42 51 0 0 1 0 0 EDAR 10913 broad.mit.edu 37 2 109522763 109522763 + Splice_Site SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:109522763C>T ENST00000409271.1 - 11 1564 c.e11+1 EDAR_ENST00000258443.2_Splice_Site|EDAR_ENST00000376651.1_Splice_Site Q9UNE0 EDAR_HUMAN ectodysplasin A receptor apoptosis|cell differentiation integral to membrane protein binding|transmembrane receptor activity NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1) 16 TTTCAGCTTACCTTCCACGAC 0.542000 33 67 0 0 1 0 0 CNTNAP3 79937 broad.mit.edu 37 9 39144255 39144255 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:39144255C>T ENST00000297668.6 - 11 1811 c.1738G>A c.(1738-1740)Ggc>Agc p.G580S CNTNAP3_ENST00000377659.1_Missense_Mutation_p.G580S|CNTNAP3_ENST00000358144.2_Missense_Mutation_p.G492S|CNTNAP3_ENST00000377656.2_Missense_Mutation_p.G580S|CNTNAP3_ENST00000323947.7_Intron NM_033655.3 NP_387504.2 Q9BZ76 CNTP3_HUMAN contactin associated protein-like 3 580 EGF-like 1. cell adhesion|cell recognition|signal transduction extracellular region|integral to membrane|plasma membrane receptor binding breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2) 24 GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681) CAGGTCTCGCCCGTATAGCCT 0.493000 4 14 0 0 1 0 0 FRG1B 284802 broad.mit.edu 37 20 29628275 29628275 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr20:29628275G>A ENST00000278882.3 + 6 657 c.277G>A c.(277-279)Gaa>Aaa p.E93K FRG1B_ENST00000439954.2_Missense_Mutation_p.E98K|FRG1B_ENST00000358464.4_Missense_Mutation_p.E93K endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 TAGATGCAATGAAGCAGGGGA 0.373000 9 153 0 0 1 0 0 DNAH9 1770 broad.mit.edu 37 17 11711084 11711084 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:11711084G>A ENST00000262442.3 + 44 8524 c.8456G>A c.(8455-8457)gGa>gAa p.G2819E DNAH9_ENST00000454412.2_Missense_Mutation_p.G2819E NM_001372.3 NP_001363.2 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 2819 AAA 4 (By similarity). cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4) 290 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) TCCCCGCGGGGAAATGCTCTG 0.522000 34 73 0 0 1 0 0 HERC1 8925 broad.mit.edu 37 15 63958191 63958191 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr15:63958191G>A ENST00000443617.2 - 42 8569 c.8482C>T c.(8482-8484)Ccc>Tcc p.P2828S NM_003922.3 NP_003913.3 Q15751 HERC1_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 2828 protein modification process|transport cytosol|Golgi apparatus|membrane acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 132 AAATAACAGGGATCATTTGAC 0.517000 63 132 0 0 1 0 0 CACNA1B 774 broad.mit.edu 37 9 140968494 140968494 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:140968494C>T ENST00000277549.5 + 34 4984 c.2415C>T c.(2413-2415)ttC>ttT p.F805F CACNA1B_ENST00000277551.2_Silent_p.F1611F|CACNA1B_ENST00000371355.4_Silent_p.F1612F|CACNA1B_ENST00000371357.1_Silent_p.F1610F|CACNA1B_ENST00000371363.1_Silent_p.F1609F|CACNA1B_ENST00000371372.1_Silent_p.F1611F Q00975 CAC1B_HUMAN calcium channel, voltage-dependent, N type, alpha 1B subunit 1611 membrane depolarization|synaptic transmission voltage-gated calcium channel complex ATP binding|protein C-terminus binding|voltage-gated calcium channel activity NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2) 80 all_cancers(76;0.166) OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476) Amlodipine(DB00381)|Gabapentin(DB00996) TGCTGTTCTTCATCTACGCCA 0.642000 63 152 0 0 1 0 0 RNF152 220441 broad.mit.edu 37 18 59483154 59483154 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr18:59483154G>A ENST00000312828.3 - 2 1642 c.543C>T c.(541-543)ttC>ttT p.F181F NM_173557.2 NP_775828.1 Q8N8N0 RN152_HUMAN ring finger protein 152 181 apoptosis|protein K48-linked ubiquitination integral to membrane|lysosomal membrane ubiquitin-protein ligase activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(10)|skin(1) 17 Colorectal(73;0.186) TGCCGAGGAGGAAGACCAAGA 0.582000 43 104 0 0 1 0 0 NDST4 64579 broad.mit.edu 37 4 115997314 115997314 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:115997314C>T ENST00000264363.2 - 2 1557 c.879G>A c.(877-879)ggG>ggA p.G293G NM_022569.1 NP_072091.1 Q9H3R1 NDST4_HUMAN N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4 293 Heparan sulfate N-deacetylase 4. Golgi membrane|integral to membrane [heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1) 81 Ovarian(17;0.156) OV - Ovarian serous cystadenocarcinoma(123;0.000562) TCAGCCTCTTCCCTGACAAGA 0.433000 61 103 0 0 1 0 0 TNXB 7148 broad.mit.edu 37 6 32024638 32024638 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:32024638G>A ENST00000375244.3 - 23 8069 c.7868C>T c.(7867-7869)cCt>cTt p.P2623L TNXB_ENST00000375247.2_Missense_Mutation_p.P2623L P22105 TENX_HUMAN tenascin XB 2683 Fibronectin type-III 18. actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction extracellular space|intracellular|proteinaceous extracellular matrix heparin binding|integrin binding endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1) 8 GGGGGGCTCAGGGGTCATGGT 0.622000 44 121 0 0 1 0 0 ADAMDEC1 27299 broad.mit.edu 37 8 24255247 24255247 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:24255247G>A ENST00000538205.1 + 8 989 c.442G>A c.(442-444)Gat>Aat p.D148N RP11-624C23.1_ENST00000519689.1_RNA|ADAMDEC1_ENST00000256412.4_Missense_Mutation_p.D227N|RP11-624C23.1_ENST00000523578.1_RNA|ADAMDEC1_ENST00000522298.1_Missense_Mutation_p.D148N NM_001145271.1 NP_001138743.1 O15204 ADEC1_HUMAN ADAM-like, decysin 1 227 integrin-mediated signaling pathway|negative regulation of cell adhesion|proteolysis extracellular region|integral to membrane integrin binding|metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|large_intestine(4)|skin(2)|stomach(1) 9 Prostate(55;0.0181) Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)|BRCA - Breast invasive adenocarcinoma(99;0.168) TTTGGTGCTGGATAATGCCTT 0.353000 34 32 0 0 1 0 0 OR2G3 81469 broad.mit.edu 37 1 247769747 247769747 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:247769747C>T ENST00000320002.2 + 1 892 c.860C>T c.(859-861)cCt>cTt p.P287L RP11-978I15.10_ENST00000435333.1_RNA|RP11-978I15.10_ENST00000446347.1_RNA NM_001001914.1 NP_001001914.1 Q8NGZ4 OR2G3_HUMAN olfactory receptor, family 2, subfamily G, member 3 287 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(31)|skin(5) 50 all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) OV - Ovarian serous cystadenocarcinoma(106;0.017) ACTTTAAATCCTATCATCTAT 0.428000 29 123 0 0 1 0 0 KAT7 11143 broad.mit.edu 37 17 47900602 47900602 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:47900602C>T ENST00000503935.2 + 12 1993 c.957C>T c.(955-957)atC>atT p.I319I KAT7_ENST00000454930.2_Silent_p.I336I|KAT7_ENST00000510819.1_Silent_p.I306I|KAT7_ENST00000259021.4_Silent_p.I475I|KAT7_ENST00000513980.1_3'UTR|KAT7_ENST00000509773.1_Silent_p.I365I|KAT7_ENST00000424009.2_Silent_p.I445I|KAT7_ENST00000435742.2_Silent_p.I289I O95251 MYST2_HUMAN K(lysine) acetyltransferase 7 475 DNA replication|histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation histone acetyltransferase complex histone acetyltransferase activity|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding TCTCCTGTATCCTTACTATGC 0.408000 5 132 0 0 1 0 0 TUBA3C 7278 broad.mit.edu 37 13 19748072 19748072 + Silent SNP C C T rs1052442 TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr13:19748072C>T ENST00000400113.3 - 5 1388 c.1284G>A c.(1282-1284)ctG>ctA p.L428L NM_006001.2 NP_005992.1 Q13748 TBA3C_HUMAN tubulin, alpha 3c 428 'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|protein binding|structural molecule activity NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1) 72 all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162) all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108) AATCCTTCTCCAGAGCTGCCA 0.582000 97 166 0 0 1 0 0 TMEM104 54868 broad.mit.edu 37 17 72815911 72815911 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:72815911G>A ENST00000335464.5 + 9 821 c.659G>A c.(658-660)gGa>gAa p.G220E TMEM104_ENST00000582773.1_Missense_Mutation_p.G220E|TMEM104_ENST00000417024.2_Missense_Mutation_p.G233E|TMEM104_ENST00000582330.1_Missense_Mutation_p.G220E NM_017728.3 NP_060198.3 Q8NE00 TM104_HUMAN transmembrane protein 104 220 integral to membrane NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(5)|ovary(1) 19 all_lung(278;0.23) CTCCTCCTCGGACCGTTCACC 0.562000 37 118 0 0 1 0 0 CSMD1 64478 broad.mit.edu 37 8 3076800 3076800 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:3076800G>A ENST00000602557.1 - 30 5207 c.4652C>T c.(4651-4653)tCa>tTa p.S1551L CSMD1_ENST00000602723.1_Missense_Mutation_p.S1551L|CSMD1_ENST00000537824.1_Missense_Mutation_p.S1550L|CSMD1_ENST00000400186.3_Missense_Mutation_p.S1551L|CSMD1_ENST00000539096.1_Missense_Mutation_p.S1550L|CSMD1_ENST00000523387.1_5'UTR|CSMD1_ENST00000542608.1_Missense_Mutation_p.S1550L|CSMD1_ENST00000520002.1_Missense_Mutation_p.S1551L Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 1551 CUB 9. integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) GGCGAACCCTGAAAGGCCCAC 0.453000 12 12 0 0 1 0 0 VIP 7432 broad.mit.edu 37 6 153075392 153075392 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:153075392G>A ENST00000367244.3 + 3 371 c.199G>A c.(199-201)Gaa>Aaa p.E67K VIP_ENST00000367243.3_Missense_Mutation_p.E67K NM_003381.3 NP_003372.1 P01282 VIP_HUMAN vasoactive intestinal peptide 67 body fluid secretion|G-protein coupled receptor protein signaling pathway|positive regulation of cell proliferation extracellular region neuropeptide hormone activity haematopoietic_and_lymphoid_tissue(1)|lung(4)|skin(1) 6 Ovarian(120;0.0654) OV - Ovarian serous cystadenocarcinoma(155;4.5e-11)|BRCA - Breast invasive adenocarcinoma(81;0.144) TGCATTAGCTGAAAATGACAC 0.338000 31 53 0 0 1 0 0 GABRB2 2561 broad.mit.edu 37 5 160763772 160763772 + Silent SNP T T A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:160763772T>A ENST00000274547.2 - 7 763 c.546A>T c.(544-546)ggA>ggT p.G182G GABRB2_ENST00000520240.1_Silent_p.G182G|GABRB2_ENST00000393959.1_Silent_p.G182G|GABRB2_ENST00000517547.1_Silent_p.G22G|GABRB2_ENST00000353437.6_Silent_p.G182G|GABRB2_ENST00000517901.1_Silent_p.G119G NM_000813.2|NM_021911.2 NP_000804.1|NP_068711.1 P47870 GBRB2_HUMAN gamma-aminobutyric acid (GABA) A receptor, beta 2 182 gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|GABA-A receptor activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 26 Renal(175;0.00259) Medulloblastoma(196;0.021)|all_neural(177;0.0463) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683) CAGTTGTGTATCCATCTGTGA 0.343000 40 59 0 0 1 0 0 KGFLP2 654466 broad.mit.edu 37 9 41963934 41963934 + RNA SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:41963934C>T ENST00000454645.1 - 0 661 NR_003670.1 GTCCTGATTTCCATGATATCT 0.403000 12 121 0 0 1 0 0 OC90 729330 broad.mit.edu 37 8 133053357 133053357 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:133053357C>T ENST00000262283.5 - 9 1078 c.979G>A c.(979-981)Gac>Aac p.D327N OC90_ENST00000603859.1_Missense_Mutation_p.D131N|OC90_ENST00000254627.3_Missense_Mutation_p.D131N|OC90_ENST00000443356.2_Missense_Mutation_p.D131N Q02509 OC90_HUMAN otoconin 90 131 Phospholipase A2-like 2. lipid catabolic process|phospholipid metabolic process calcium ion binding|phospholipase A2 activity p.D327Y(1)|p.D137Y(1) NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(23)|ovary(2)|prostate(1)|skin(1) 37 Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000805) TGGAGACAGTCCATCTCAGCG 0.587000 77 154 0 0 1 0 0 PCLO 27445 broad.mit.edu 37 7 82544332 82544332 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:82544332G>A ENST00000423517.2 - 7 13307 c.12970C>T c.(12970-12972)Cta>Tta p.L4324L PCLO_ENST00000333891.8_Silent_p.L4324L|PCLO_ENST00000437081.1_Silent_p.L1044L NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 4255 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 GAAACATCTAGAGCTTCAGCC 0.438000 23 72 0 0 1 0 0 NPFFR1 64106 broad.mit.edu 37 10 72025832 72025832 + Splice_Site SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:72025832C>T ENST00000277942.5 - 2 330 c.e2+1 NM_022146.4 NP_071429.1 Q9GZQ6 NPFF1_HUMAN neuropeptide FF receptor 1 integral to membrane|plasma membrane neuropeptide receptor activity endometrium(2)|lung(1) 3 CCCGCACTCACCAGTGATGAG 0.527000 25 74 0 0 1 0 0 UNC13C 440279 broad.mit.edu 37 15 54707187 54707187 + Nonsense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr15:54707187C>T ENST00000545554.1 + 18 4855 c.4855C>T c.(4855-4857)Caa>Taa p.Q1619* UNC13C_ENST00000260323.11_Nonsense_Mutation_p.Q1619*|UNC13C_ENST00000537900.1_Nonsense_Mutation_p.Q1617* Q8NB66 UN13C_HUMAN unc-13 homolog C (C. elegans) 1619 exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4) 121 GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124) TAGGTTTCCTCAAGAGCTGAA 0.303000 6 35 0 0 1 0 0 ATF6B 1388 broad.mit.edu 37 6 32083731 32083731 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:32083731G>A ENST00000375201.4 - 18 1933 c.1888C>T c.(1888-1890)Cgt>Tgt p.R630C ATF6B_ENST00000375203.3_Missense_Mutation_p.R633C Q99941 ATF6B_HUMAN activating transcription factor 6 beta 633 response to unfolded protein|signal transduction endoplasmic reticulum membrane|integral to membrane|nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(1)|urinary_tract(1) 22 GGGGCCCCACGGCCTGACAGG 0.582000 20 58 0 0 1 0 0 SUV420H1 51111 broad.mit.edu 37 11 67925666 67925666 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:67925666G>A ENST00000304363.4 - 11 2500 c.2147C>T c.(2146-2148)cCc>cTc p.P716L NM_017635.3 NP_060105.3 Q4FZB7 SV421_HUMAN suppressor of variegation 4-20 homolog 1 (Drosophila) 716 regulation of transcription, DNA-dependent|transcription, DNA-dependent protein binding NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(15)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 46 AGTCAATTTGGGAATCCCAGA 0.368000 11 408 0 0 1 0 0 OR2L13 284521 broad.mit.edu 37 1 248263546 248263546 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:248263546G>A ENST00000366478.2 + 3 1206 c.869G>A c.(868-870)aGc>aAc p.S290N OR2L13_ENST00000358120.2_Missense_Mutation_p.S290N NM_175911.2 NP_787107.1 Q8N349 OR2LD_HUMAN olfactory receptor, family 2, subfamily L, member 13 290 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity|protein binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(32)|ovary(1)|skin(3)|upper_aerodigestive_tract(1) 59 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0132) ATTATCTACAGCCTGAGGAAT 0.488000 32 88 0 0 1 0 0 IL18R1 8809 broad.mit.edu 37 2 103013120 103013120 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:103013120G>A ENST00000409599.1 + 12 1756 c.1400G>A c.(1399-1401)aGa>aAa p.R467K IL18R1_ENST00000233957.1_Missense_Mutation_p.R467K Q13478 IL18R_HUMAN interleukin 18 receptor 1 467 TIR. innate immune response integral to membrane|plasma membrane interleukin-1 receptor activity breast(1)|endometrium(3)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 34 TTGGTGGAAAGAAAAATTAAA 0.353000 26 57 0 0 1 0 0 PAH 5053 broad.mit.edu 37 12 103245469 103245469 + Missense_Mutation SNP G G A rs62642920 TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:103245469G>A ENST00000553106.1 - 8 1380 c.908C>T c.(907-909)tCc>tTc p.S303F PAH_ENST00000307000.2_Missense_Mutation_p.S298F NM_000277.1 NP_000268.1 P00439 PH4H_HUMAN phenylalanine hydroxylase 303 S -> P (in PKU; haplotype 5). catecholamine biosynthetic process|L-phenylalanine catabolic process|neurotransmitter biosynthetic process cytosol phenylalanine 4-monooxygenase activity endometrium(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(5)|skin(2)|urinary_tract(1) 27 Epinephrine(DB00668)|L-Phenylalanine(DB00120)|Levodopa(DB01235)|Norepinephrine(DB00368)|Tetrahydrobiopterin(DB00360) CCTTACCTGGGAAAACTGGGC 0.493000 9 66 0 0 1 0 0 ERMARD 55780 broad.mit.edu 37 6 170169672 170169672 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:170169672C>T ENST00000588451.1 + 11 1201 c.688C>T c.(688-690)Ccc>Tcc p.P230S C6orf70_ENST00000392095.4_Missense_Mutation_p.P240S|C6orf70_ENST00000366772.2_Missense_Mutation_p.P366S|C6orf70_ENST00000418781.3_Missense_Mutation_p.P366S|C6orf70_ENST00000366773.3_Missense_Mutation_p.P366S Q5T6L9 CF070_HUMAN 366 integral to membrane breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(1) 20 Breast(66;5.08e-05)|Ovarian(120;0.208) OV - Ovarian serous cystadenocarcinoma(33;1.2e-22)|BRCA - Breast invasive adenocarcinoma(81;1.49e-07)|GBM - Glioblastoma multiforme(31;0.00191) TCAGGAGGGTCCCCGCATAAG 0.403000 4 51 0 0 1 0 0 UGT2B28 54490 broad.mit.edu 37 4 70146718 70146718 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:70146718C>T ENST00000335568.5 + 1 502 c.500C>T c.(499-501)cCg>cTg p.P167L UGT2B28_ENST00000511240.1_Missense_Mutation_p.P167L NM_053039.1 NP_444267.1 Q9BY64 UDB28_HUMAN UDP glucuronosyltransferase 2 family, polypeptide B28 167 xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 31 Flunitrazepam(DB01544) CTTAACATACCGTTTGTGTAC 0.408000 47 135 0 0 1 0 0 DNM2 1785 broad.mit.edu 37 19 10893656 10893656 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:10893656C>T ENST00000314646.5 + 6 873 c.709C>T c.(709-711)Cgc>Tgc p.R237C DNM2_ENST00000408974.4_Missense_Mutation_p.R237C|DNM2_ENST00000585892.1_Missense_Mutation_p.R237C|DNM2_ENST00000389253.4_Missense_Mutation_p.R237C|DNM2_ENST00000355667.6_Missense_Mutation_p.R237C|DNM2_ENST00000359692.6_Missense_Mutation_p.R237C P50570 DYN2_HUMAN dynamin 2 237 G2/M transition of mitotic cell cycle|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|post-Golgi vesicle-mediated transport|receptor internalization|signal transduction|synaptic vesicle transport|transferrin transport cell junction|cytosol|Golgi membrane|microtubule|postsynaptic density|postsynaptic membrane GTP binding|GTPase activity|microtubule binding breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2) 42 Epithelial(33;4.17e-05)|all cancers(31;8.48e-05) CGTGGTGAACCGCAGCCAGAA 0.597000 """F, N, Splice, Mis, O""" ETP ALL 35 75 0 0 1 0 0 OR7D4 125958 broad.mit.edu 37 19 9325274 9325274 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:9325274C>T ENST00000308682.2 - 1 268 c.240G>A c.(238-240)aaG>aaA p.K80K NM_001005191.2 NP_001005191.1 Q8NG98 OR7D4_HUMAN olfactory receptor, family 7, subfamily D, member 4 80 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|skin(3)|stomach(1) 26 TCACTAGCATCTTGGGGACTG 0.502000 49 103 0 0 1 0 0 TIAM2 26230 broad.mit.edu 37 6 155504409 155504409 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:155504409G>A ENST00000461783.3 + 16 4112 c.2839G>A c.(2839-2841)Gaa>Aaa p.E947K TIAM2_ENST00000367174.2_Missense_Mutation_p.E323K|TIAM2_ENST00000528391.2_Missense_Mutation_p.E283K|TIAM2_ENST00000456877.2_Missense_Mutation_p.E259K|TIAM2_ENST00000456144.1_Missense_Mutation_p.E947K|TIAM2_ENST00000360366.4_Missense_Mutation_p.E971K|TIAM2_ENST00000529824.2_Missense_Mutation_p.E947K|TIAM2_ENST00000318981.5_Missense_Mutation_p.E947K Q8IVF5 TIAM2_HUMAN T-cell lymphoma invasion and metastasis 2 947 PDZ. apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|filopodium|growth cone|lamellipodium receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4) 65 Ovarian(120;0.196) OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053) CTTAAATGGGGAAGCTGTGTC 0.468000 81 42 0 0 1 0 0 WDR64 128025 broad.mit.edu 37 1 241920714 241920714 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:241920714C>T ENST00000366552.2 + 14 2077 c.1870C>T c.(1870-1872)Cca>Tca p.P624S WDR64_ENST00000437684.2_Missense_Mutation_p.P624S NM_144625.4 NP_653226.4 B1ANS9 WDR64_HUMAN WD repeat domain 64 624 breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(17)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 Ovarian(103;0.103) all_cancers(173;0.0121) OV - Ovarian serous cystadenocarcinoma(106;0.0116) TATTCCTTTCCCAGATGTCGA 0.408000 38 94 0 0 1 0 0 FAAH2 158584 broad.mit.edu 37 X 57313413 57313413 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chrX:57313413C>T ENST00000374900.4 + 1 275 c.155C>T c.(154-156)tCg>tTg p.S52L NM_174912.3 NP_777572.2 Q6GMR7 FAAH2_HUMAN fatty acid amide hydrolase 2 52 integral to membrane carbon-nitrogen ligase activity, with glutamine as amido-N-donor|hydrolase activity endometrium(2)|large_intestine(4)|lung(10)|ovary(3)|upper_aerodigestive_tract(3) 22 CTTCTGCTTTCGGGGATGCAG 0.522000 HNSCC(52;0.14) 13 1 0 0 1 0 0 CADPS2 93664 broad.mit.edu 37 7 122047633 122047633 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:122047633G>A ENST00000334010.7 - 18 3122 c.2701C>T c.(2701-2703)Cct>Tct p.P901S CADPS2_ENST00000449022.2_Missense_Mutation_p.P903S|RP5-1101C3.1_ENST00000591140.1_RNA|RP5-1101C3.1_ENST00000593910.1_RNA|CADPS2_ENST00000412584.2_Missense_Mutation_p.P897S|CADPS2_ENST00000313070.7_Missense_Mutation_p.P897S NM_001167940.1 NP_001161412.1 Q86UW7 CAPS2_HUMAN Ca++-dependent secretion activator 2 903 Interaction with DRD2.|MHD1. exocytosis|protein transport cell junction|cytoplasmic vesicle membrane|synapse lipid binding|metal ion binding breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2) 43 TGGAAAAGAGGAAAACTATCC 0.418000 11 34 0 0 1 0 0 CYP2B7P 1556 broad.mit.edu 37 19 41455067 41455067 + RNA SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:41455067C>T ENST00000599198.1 + 0 1458 NR_001278.1 NS(1)|endometrium(6)|kidney(1)|lung(2)|ovary(1)|skin(1) 12 CTGAAGACATCGATCTGACAC 0.567000 20 42 0 0 1 0 0 SLC38A5 92745 broad.mit.edu 37 X 48319109 48319109 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chrX:48319109C>T ENST00000376876.3 - 13 1837 c.994G>A c.(994-996)Gac>Aac p.D332N SLC38A5_ENST00000376875.1_Missense_Mutation_p.D281N|SLC38A5_ENST00000480105.1_5'UTR|SLC38A5_ENST00000317669.5_Missense_Mutation_p.D332N Q8WUX1 S38A5_HUMAN solute carrier family 38, member 5 332 cellular nitrogen compound metabolic process|ion transport integral to membrane|plasma membrane breast(1)|cervix(1)|endometrium(6)|large_intestine(2)|lung(5)|ovary(3)|skin(1) 19 ATGAGCGGGTCCTTCTGGCTG 0.637000 28 8 0 0 1 0 0 BAGE2 85319 broad.mit.edu 37 21 11039377 11039377 + RNA SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr21:11039377C>T ENST00000470054.1 - 0 826 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) AAGACATTTTCATTTCTTCAC 0.338000 20 400 0 0 1 0 0 MEIS3 56917 broad.mit.edu 37 19 47912431 47912431 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:47912431C>T ENST00000331559.5 - 8 1173 c.732G>A c.(730-732)cgG>cgA p.R244R MEIS3_ENST00000558555.1_Silent_p.R261R|MEIS3_ENST00000561096.1_Silent_p.R349R|MEIS3_ENST00000561293.1_Silent_p.R261R|MEIS3_ENST00000441740.2_Silent_p.R244R|MEIS3_ENST00000559524.1_Silent_p.R261R|MEIS3_ENST00000560253.1_5'UTR NM_020160.2 NP_064545.1 Q99687 MEIS3_HUMAN Meis homeobox 3 261 Ser/Thr-rich. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|large_intestine(5)|lung(11)|prostate(1)|skin(2) 20 all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503) all cancers(93;0.000198)|OV - Ovarian serous cystadenocarcinoma(262;0.000439)|Epithelial(262;0.0113)|GBM - Glioblastoma multiforme(486;0.0223) TCTTGTTTCGCCGTCGCTCCT 0.612000 40 51 0 0 1 0 0 IGSF1 3547 broad.mit.edu 37 X 130408672 130408672 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chrX:130408672C>T ENST00000370904.1 - 24 4535 c.3625G>A c.(3625-3627)Gga>Aga p.G1209R IGSF1_ENST00000370910.1_Missense_Mutation_p.G1209R|IGSF1_ENST00000361420.3_Missense_Mutation_p.G1218R|IGSF1_ENST00000370903.3_Missense_Mutation_p.G1223R Q8N6C5 IGSF1_HUMAN immunoglobulin superfamily, member 1 1218 Ig-like C2-type 12. regulation of transcription, DNA-dependent extracellular region|integral to membrane inhibin beta-A binding|inhibin beta-B binding breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2) 78 ATGCCTTTTCCTTCTACGTTG 0.527000 14 228 0 0 1 0 0 TNFRSF11B 4982 broad.mit.edu 37 8 119945233 119945233 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:119945233G>A ENST00000297350.4 - 2 715 c.337C>T c.(337-339)Ctt>Ttt p.L113F NM_002546.3 NP_002537.3 O00300 TR11B_HUMAN tumor necrosis factor receptor superfamily, member 11b 113 apoptosis|skeletal system development cytokine activity|receptor activity breast(1)|central_nervous_system(3)|endometrium(4)|large_intestine(6)|lung(7)|prostate(3)|skin(1) 25 all_cancers(13;3.71e-26)|Lung NSC(37;1.69e-07)|Ovarian(258;0.018)|all_neural(195;0.0592)|Hepatocellular(40;0.234) STAD - Stomach adenocarcinoma(47;0.00193) TCTATCTCAAGGTAGCGCCCT 0.517000 17 68 0 0 1 0 0 SULF2 55959 broad.mit.edu 37 20 46386072 46386072 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr20:46386072G>A ENST00000359930.4 - 2 887 c.36C>T c.(34-36)tcC>tcT p.S12S SULF2_ENST00000484875.1_Silent_p.S12S|SULF2_ENST00000467815.1_Silent_p.S12S|SULF2_ENST00000361612.4_Silent_p.S12S NM_018837.3 NP_061325.1 Q8IWU5 SULF2_HUMAN sulfatase 2 12 bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway cell surface|endoplasmic reticulum|extracellular space|Golgi stack arylsulfatase activity|calcium ion binding breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 54 ACACAGTTGCGGACAGCAAGC 0.587000 4 10 0 0 1 0 0 SNAP91 9892 broad.mit.edu 37 6 84375216 84375216 + Nonsense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:84375216C>T ENST00000428679.2 - 3 808 c.215G>A c.(214-216)tGg>tAg p.W72* SNAP91_ENST00000521743.1_Nonsense_Mutation_p.W72*|SNAP91_ENST00000520302.1_Nonsense_Mutation_p.W72*|SNAP91_ENST00000521485.1_Nonsense_Mutation_p.W72*|SNAP91_ENST00000437520.1_Nonsense_Mutation_p.W72*|SNAP91_ENST00000520213.1_Nonsense_Mutation_p.W72*|SNAP91_ENST00000369694.2_Nonsense_Mutation_p.W72*|SNAP91_ENST00000439399.2_Nonsense_Mutation_p.W72*|SNAP91_ENST00000195649.6_Nonsense_Mutation_p.W72* O60641 AP180_HUMAN synaptosomal-associated protein, 91kDa 72 ENTH. clathrin coat assembly clathrin coat|coated pit|plasma membrane 1-phosphatidylinositol binding|clathrin binding breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(22)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 37 all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575) BRCA - Breast invasive adenocarcinoma(397;0.0967) CACAACCACCCAGCTACTGTT 0.413000 10 213 0 0 1 0 0 KLHDC7A 127707 broad.mit.edu 37 1 18808180 18808180 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:18808180G>A ENST00000400664.1 + 1 757 c.705G>A c.(703-705)gaG>gaA p.E235E NM_152375.2 NP_689588.2 Q5VTJ3 KLD7A_HUMAN kelch domain containing 7A 235 integral to membrane endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2) 22 Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649) GCAGAGAAGAGGCTGGGGCTC 0.602000 39 66 0 0 1 0 0 GPR114 221188 broad.mit.edu 37 16 57604361 57604361 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr16:57604361C>T ENST00000340339.4 + 10 1645 c.1122C>T c.(1120-1122)ctC>ctT p.L374L GPR114_ENST00000394361.4_Intron|GPR114_ENST00000349457.3_Silent_p.L374L NM_153837.1 NP_722579.1 Q8IZF4 GP114_HUMAN G protein-coupled receptor 114 374 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(5)|ovary(2)|stomach(1)|urinary_tract(1) 23 TGCTTTCCCTCTCTGTCAAGA 0.627000 44 35 0 0 1 0 0 DOCK4 9732 broad.mit.edu 37 7 111540575 111540575 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:111540575G>A ENST00000428084.1 - 15 1607 c.1335C>T c.(1333-1335)ggC>ggT p.G445G DOCK4_ENST00000476846.1_5'UTR|DOCK4_ENST00000437633.1_Silent_p.G445G Q8N1I0 DOCK4_HUMAN dedicator of cytokinesis 4 445 DHR-1. cell chemotaxis cytosol|endomembrane system|membrane|stereocilium GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4) 72 Acute lymphoblastic leukemia(1;0.0441) GCTCCCCAGAGCCGAAGGAGA 0.453000 5 30 0 0 1 0 0 LCN2 3934 broad.mit.edu 37 9 130914493 130914493 + Missense_Mutation SNP G G C TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:130914493G>C ENST00000540948.1 + 5 580 c.507G>C c.(505-507)aaG>aaC p.K169N LCN2_ENST00000373017.1_Missense_Mutation_p.K169N|LCN2_ENST00000470902.1_3'UTR|LCN2_ENST00000277480.2_Missense_Mutation_p.K169N|LCN2_ENST00000372998.1_Missense_Mutation_p.K171N|LCN2_ENST00000373013.2_Missense_Mutation_p.K171N P80188 NGAL_HUMAN lipocalin 2 169 apoptosis|innate immune response|regulation of apoptosis|siderophore transport iron ion binding|transporter activity central_nervous_system(1)|lung(3)|prostate(2)|skin(1)|urinary_tract(1) 8 CGGAACTAAAGGAGAACTTCA 0.527000 23 76 0 0 1 0 0 SRGAP3 9901 broad.mit.edu 37 3 9055068 9055068 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:9055068C>T ENST00000383836.3 - 17 2498 c.2071G>A c.(2071-2073)Gaa>Aaa p.E691K SRGAP3_ENST00000360413.3_Missense_Mutation_p.E667K NM_014850.3 NP_055665.1 O43295 SRGP2_HUMAN SLIT-ROBO Rho GTPase activating protein 3 691 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|protein binding SRGAP3/RAF1(6) breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 54 OV - Ovarian serous cystadenocarcinoma(96;0.0563) AAGATGGCTTCATGATGGATG 0.512000 T RAF1 pilocytic astrocytoma 27 61 0 0 1 0 0 JAKMIP2 9832 broad.mit.edu 37 5 147040721 147040721 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:147040721C>T ENST00000265272.5 - 3 884 c.417G>A c.(415-417)gaG>gaA p.E139E JAKMIP2_ENST00000333010.6_Silent_p.E97E|JAKMIP2_ENST00000507386.1_Silent_p.E139E NM_014790.3 NP_055605.2 Q96AA8 JKIP2_HUMAN janus kinase and microtubule interacting protein 2 139 Golgi apparatus NS(1)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(22)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2) 64 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TCCGGGCCTCCTCCCGGGCCT 0.557000 81 190 0 0 1 0 0 SHC2 25759 broad.mit.edu 37 19 436281 436281 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:436281G>A ENST00000264554.6 - 7 836 c.837C>T c.(835-837)atC>atT p.I279I NM_012435.2 NP_036567.2 P98077 SHC2_HUMAN SHC (Src homology 2 domain containing) transforming protein 2 279 PID. insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction cytosol endometrium(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 21 all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) AGCACTCCAGGATGTGGCAGG 0.687000 11 13 0 0 1 0 0 DTNA 1837 broad.mit.edu 37 18 32459550 32459550 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr18:32459550G>A ENST00000283365.9 + 19 2128 c.1777G>A c.(1777-1779)Gaa>Aaa p.E593K DTNA_ENST00000591182.1_Missense_Mutation_p.E298K|DTNA_ENST00000399121.5_Missense_Mutation_p.E597K|DTNA_ENST00000399097.3_Missense_Mutation_p.E298K|DTNA_ENST00000399113.3_Missense_Mutation_p.E650K|DTNA_ENST00000598142.1_Missense_Mutation_p.E593K|DTNA_ENST00000269192.7_Missense_Mutation_p.E359K|DTNA_ENST00000601125.1_Missense_Mutation_p.E272K|DTNA_ENST00000444659.1_Missense_Mutation_p.E650K|DTNA_ENST00000269190.7_Missense_Mutation_p.E651K|DTNA_ENST00000556414.3_Missense_Mutation_p.E302K|DTNA_ENST00000590831.2_Missense_Mutation_p.E76K|DTNA_ENST00000595022.1_Missense_Mutation_p.E590K|DTNA_ENST00000598334.1_Missense_Mutation_p.E590K NM_032975.3 NP_116757.2 Q9Y4J8 DTNA_HUMAN dystrobrevin, alpha 650 neuromuscular synaptic transmission|signal transduction|striated muscle contraction cell junction|cytoplasm|synapse calcium ion binding|protein binding|zinc ion binding endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(2)|lung(19)|prostate(1)|upper_aerodigestive_tract(1) 29 TGTGGATTCTGAATTTGCACG 0.408000 30 59 0 0 1 0 0 ZNF30 90075 broad.mit.edu 37 19 35434961 35434961 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:35434961G>A ENST00000439785.1 + 5 1538 c.1094G>A c.(1093-1095)cGa>cAa p.R365Q ZNF30_ENST00000303586.7_Missense_Mutation_p.R365Q|ZNF30_ENST00000601957.1_3'UTR|ZNF30_ENST00000426813.2_Missense_Mutation_p.R283Q|ZNF30_ENST00000601142.1_Missense_Mutation_p.R364Q NM_001099438.1 NP_001092908.1 P17039 ZNF30_HUMAN zinc finger protein 30 364 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(2) 16 all_lung(56;8.38e-08)|Lung NSC(56;1.31e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0849) GBM - Glioblastoma multiforme(1328;0.0265) GCACATCAGCGAATTCATGCA 0.448000 33 57 0 0 1 0 0 FBXO31 79791 broad.mit.edu 37 16 87364999 87364999 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr16:87364999G>A ENST00000311635.7 - 9 1527 c.1515C>T c.(1513-1515)tcC>tcT p.S505S RP11-178L8.4_ENST00000568879.1_Intron NM_024735.3 NP_079011.3 Q5XUX0 FBX31_HUMAN F-box protein 31 505 cell cycle|cyclin catabolic process|mitotic cell cycle G1/S transition DNA damage checkpoint|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process SCF ubiquitin ligase complex cyclin binding endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1) 17 BRCA - Breast invasive adenocarcinoma(80;0.0272) ACAGGCTGAAGGATTTCAGCT 0.617000 22 25 0 0 1 0 0 LRRC7 57554 broad.mit.edu 37 1 70541874 70541874 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:70541874C>T ENST00000310961.5 + 24 4523 c.4105C>T c.(4105-4107)Cca>Tca p.P1369S LRRC7_ENST00000035383.5_Missense_Mutation_p.P1411S|LRRC7_ENST00000415775.2_Missense_Mutation_p.P695S Q96NW7 LRRC7_HUMAN leucine rich repeat containing 7 1411 centrosome|focal adhesion|nucleolus protein binding breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 162 ATTTCAGTCACCATTGCCTAT 0.517000 37 113 0 0 1 0 0 CDK5RAP2 55755 broad.mit.edu 37 9 123177408 123177408 + Nonsense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:123177408G>A ENST00000349780.4 - 28 4386 c.4207C>T c.(4207-4209)Cga>Tga p.R1403* CDK5RAP2_ENST00000359309.3_Nonsense_Mutation_p.R1362*|CDK5RAP2_ENST00000360190.4_Nonsense_Mutation_p.R1403*|CDK5RAP2_ENST00000360822.3_Nonsense_Mutation_p.R1371* NM_018249.4 NP_060719.4 Q96SN8 CK5P2_HUMAN CDK5 regulatory subunit associated protein 2 1403 brain development|centrosome organization|chromosome segregation|G2/M transition of mitotic cell cycle|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint cytosol|Golgi apparatus|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1) 58 CTCAAAGTTCGAATTTCCTGT 0.348000 44 92 0 0 1 0 0 DNAH9 1770 broad.mit.edu 37 17 11608482 11608482 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:11608482G>A ENST00000262442.3 + 26 5600 c.5532G>A c.(5530-5532)gtG>gtA p.V1844V DNAH9_ENST00000454412.2_Silent_p.V1844V NM_001372.3 NP_001363.2 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 1844 AAA 1 (By similarity). cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4) 290 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) CTCGCTTGGTGATCACACCTT 0.517000 32 45 0 0 1 0 0 TMIGD2 126259 broad.mit.edu 37 19 4292882 4292882 + Splice_Site SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:4292882C>T ENST00000301272.2 - 5 608 c.562_splice c.e5-1 p.G188_splice TMIGD2_ENST00000600349.1_Splice_Site_p.G16_splice|TMIGD2_ENST00000595645.1_Splice_Site_p.G184_splice|TMIGD2_ENST00000600114.1_Splice_Site_p.G68_splice NM_001169126.1|NM_144615.2 NP_001162597.1|NP_653216.2 Q96BF3 TMIG2_HUMAN transmembrane and immunoglobulin domain containing 2 188 integral to membrane breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|skin(2) 19 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0339)|STAD - Stomach adenocarcinoma(1328;0.18) GAATGCATTTCCTAGGATGGA 0.532000 15 121 0 0 1 0 0 USP15 9958 broad.mit.edu 37 12 62719710 62719710 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:62719710C>T ENST00000280377.5 + 6 737 c.679C>T c.(679-681)Cct>Tct p.P227S USP15_ENST00000312635.6_Missense_Mutation_p.P227S|USP15_ENST00000353364.3_Missense_Mutation_p.P227S|USP15_ENST00000393654.3_Missense_Mutation_p.P231S|USP15_ENST00000550632.1_Intron NM_001252078.1 NP_001239007.1 Q9Y4E8 UBP15_HUMAN ubiquitin specific peptidase 15 227 protein deubiquitination|ubiquitin-dependent protein catabolic process cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(15)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 37 GBM - Glioblastoma multiforme(1;0.000276) GBM - Glioblastoma multiforme(28;0.0622) TCCTTCTACTCCTAAGTAAGT 0.373000 21 62 0 0 1 0 0 PYHIN1 149628 broad.mit.edu 37 1 158908242 158908242 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:158908242G>A ENST00000368140.1 + 3 566 c.321G>A c.(319-321)acG>acA p.T107T PYHIN1_ENST00000392252.3_Silent_p.T98T|PYHIN1_ENST00000368135.4_Silent_p.T107T|PYHIN1_ENST00000368138.3_Silent_p.T98T|PYHIN1_ENST00000392254.2_Silent_p.T107T NM_152501.4|NM_198928.4|NM_198929.4 NP_689714.2|NP_945146.1|NP_945147.1 Q6K0P9 IFIX_HUMAN pyrin and HIN domain family, member 1 107 cell cycle nuclear speck breast(2)|endometrium(3)|large_intestine(10)|lung(32)|ovary(3)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 all_hematologic(112;0.0378) CTAAAAAGACGAAACAGAAAG 0.423000 86 92 0 0 1 0 0 CNTN4 152330 broad.mit.edu 37 3 3095578 3095578 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:3095578G>A ENST00000397461.1 + 23 3283 c.2899G>A c.(2899-2901)Gat>Aat p.D967N CNTN4-AS1_ENST00000442749.2_RNA|CNTN4_ENST00000418658.1_Missense_Mutation_p.D967N|CNTN4_ENST00000358480.3_Missense_Mutation_p.D748N|CNTN4_ENST00000448906.2_Missense_Mutation_p.D639N|CNTN4_ENST00000427331.1_Missense_Mutation_p.D967N|CNTN4_ENST00000397459.2_Missense_Mutation_p.D639N NM_001206955.1 NP_001193884.1 Q8IWV2 CNTN4_HUMAN contactin 4 967 Fibronectin type-III 4. axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity anchored to membrane|axon|extracellular region|plasma membrane protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 61 Ovarian(110;0.156) Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01) TTTCGATGAAGATTATATAAT 0.393000 5 95 0 0 1 0 0 PLCE1 51196 broad.mit.edu 37 10 96030328 96030328 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:96030328C>T ENST00000260766.3 + 18 5109 c.4475C>T c.(4474-4476)cCt>cTt p.P1492L PLCE1_ENST00000371385.3_Missense_Mutation_p.P1184L|PLCE1_ENST00000371380.2_Missense_Mutation_p.P1492L|PLCE1_ENST00000371375.1_Missense_Mutation_p.P1184L NM_016341.3 NP_057425.3 Q9P212 PLCE1_HUMAN phospholipase C, epsilon 1 1492 PI-PLC X-box. activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction cytosol|Golgi membrane|membrane fraction|plasma membrane calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1) 8 Colorectal(252;0.0458) TGTTCATTGCCTCAGCAACGA 0.433000 52 104 0 0 1 0 0 NEU1 4758 broad.mit.edu 37 6 31828030 31828030 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:31828030G>A ENST00000375631.4 - 5 939 c.810C>T c.(808-810)ctC>ctT p.L270L NM_000434.3 NP_000425.1 Q99519 NEUR1_HUMAN sialidase 1 (lysosomal sialidase) 270 L -> F (in SIALIDOSIS; type 2; reduction in enzyme activity; rapid intralysosomal degradation).|L -> P (in SIALIDOSIS). cytoplasmic membrane-bounded vesicle|lysosomal lumen|lysosomal membrane|plasma membrane exo-alpha-sialidase activity|protein binding kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1) 10 Oseltamivir(DB00198)|Zanamivir(DB00558) AGCCATCTGGGAGCTCATAGG 0.577000 29 79 0 0 1 0 0 C11orf94 143678 broad.mit.edu 37 11 45928464 45928464 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:45928464G>A ENST00000449465.1 - 2 167 c.131C>T c.(130-132)tCc>tTc p.S44F NM_001080446.2 NP_001073915.2 C9JXX5 CK094_HUMAN chromosome 11 open reading frame 94 44 extracellular region NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|ovary(1)|pancreas(1)|prostate(1) 7 CAGGGGGGCGGAAAATGCCTC 0.622000 43 88 0 0 1 0 0 POTEC 388468 broad.mit.edu 37 18 14542690 14542690 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr18:14542690G>A ENST00000358970.5 - 1 455 c.456C>T c.(454-456)gtC>gtT p.V152V POTEC_ENST00000389891.4_5'UTR NM_001137671.1 NP_001131143.1 B2RU33 POTEC_HUMAN POTE ankyrin domain family, member C 152 NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3) 52 CCTTTCTGGGGACCTTACCCC 0.582000 96 177 0 0 1 0 0 DAAM1 23002 broad.mit.edu 37 14 59793358 59793358 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr14:59793358C>T ENST00000395125.1 + 10 1328 c.1305C>T c.(1303-1305)gtC>gtT p.V435V DAAM1_ENST00000351081.1_Silent_p.V435V|DAAM1_ENST00000360909.3_Silent_p.V435V NM_014992.2 NP_055807.1 Q9Y4D1 DAAM1_HUMAN dishevelled associated activator of morphogenesis 1 435 actin cytoskeleton organization cytoplasm|plasma membrane actin binding|Rho GTPase binding breast(3)|cervix(3)|endometrium(5)|kidney(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1) 37 OV - Ovarian serous cystadenocarcinoma(108;0.165) TTAAGAATGTCGTACGAATGT 0.378000 29 75 0 0 1 0 0 CNTNAP2 26047 broad.mit.edu 37 7 146741005 146741005 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:146741005C>T ENST00000361727.3 + 4 925 c.409C>T c.(409-411)Ccc>Tcc p.P137S NM_014141.5 NP_054860.1 Q9UHC6 CNTP2_HUMAN contactin associated protein-like 2 137 F5/8 type C. behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex receptor binding p.P137S(1) NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3) 188 Melanoma(164;0.153) all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794) OV - Ovarian serous cystadenocarcinoma(82;0.0319) CCAGGCATTTCCCGGAAACAT 0.408000 HNSCC(39;0.1) 23 158 0 0 1 0 0 CD4 920 broad.mit.edu 37 12 6923362 6923362 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:6923362G>A ENST00000011653.4 + 4 527 c.269G>A c.(268-270)gGa>gAa p.G90E CD4_ENST00000538827.1_3'UTR|CD4_ENST00000541982.1_Missense_Mutation_p.G35E NM_000616.4|NM_001195015.2|NM_001195016.2|NM_001195017.2 NP_000607.1|NP_001181944.1|NP_001181945.1|NP_001181946.1 P01730 CD4_HUMAN CD4 molecule 90 Ig-like V-type. cell adhesion|entry into host cell|immune response|induction by virus of host cell-cell fusion|initiation of viral infection|maintenance of protein location in cell|positive regulation of interleukin-2 biosynthetic process|positive regulation of protein kinase activity|protein palmitoleylation|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|T cell selection|transmembrane receptor protein tyrosine kinase signaling pathway early endosome|endoplasmic reticulum membrane|integral to membrane|T cell receptor complex coreceptor activity|extracellular matrix structural constituent|glycoprotein binding|MHC class II protein binding|protein homodimerization activity|protein kinase binding|transmembrane receptor activity|zinc ion binding p.G90E(1) breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1) 23 Myeloproliferative disorder(1001;0.0122) TGGGACCAAGGAAACTTTCCC 0.502000 10 195 0 0 1 0 0 MYH1 4619 broad.mit.edu 37 17 10408829 10408829 + Splice_Site SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:10408829C>T ENST00000226207.5 - 20 2269 c.e20-1 CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA NM_005963.3 NP_005954.3 P12882 MYH1_HUMAN myosin, heavy chain 1, skeletal muscle, adult muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5) 176 CACCTTGTATCTGTTTAAGCC 0.423000 20 42 0 0 1 0 0 ASTN1 460 broad.mit.edu 37 1 176853547 176853547 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:176853547C>T ENST00000367654.2 - 19 3191 c.3178G>A c.(3178-3180)Gtg>Atg p.V1060M ASTN1_ENST00000367657.3_Missense_Mutation_p.V1052M|ASTN1_ENST00000361833.2_Missense_Mutation_p.V1052M|ASTN1_ENST00000424564.2_Missense_Mutation_p.V1052M O14525 ASTN1_HUMAN astrotactin 1 1060 Fibronectin type-III 1. cell migration|neuron cell-cell adhesion integral to membrane NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3) 153 ACAATCTGCACCCCGATTGGT 0.542000 67 84 0 0 1 0 0 SMO 6608 broad.mit.edu 37 7 128845608 128845608 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:128845608G>A ENST00000249373.3 + 4 1185 c.905G>A c.(904-906)aGg>aAg p.R302K NM_005631.4 NP_005622.1 Q99835 SMO_HUMAN smoothened, frizzled family receptor 302 adenohypophysis development|axon extension involved in axon guidance|canonical Wnt receptor signaling pathway|cardioblast differentiation|central nervous system neuron differentiation|cerebellar cortex morphogenesis|ciliary receptor clustering involved in smoothened signaling pathway|determination of left/right symmetry|dorsal/ventral neural tube patterning|embryonic camera-type eye development|embryonic digestive tract morphogenesis|embryonic neurocranium morphogenesis|embryonic viscerocranium morphogenesis|exocrine pancreas development|facial nerve development|floor plate formation|gonad development|heart morphogenesis|muscle cell fate commitment|negative regulation of apoptosis|neural crest cell migration|neuron fate commitment|neuron projection regeneration|odontogenesis of dentine-containing tooth|osteoblast differentiation|otolith morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of neuroblast proliferation|positive regulation of smoothened signaling pathway|semicircular canal morphogenesis|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation|smoothened signaling pathway involved in ventral spinal cord patterning|spermatogenesis|vasculogenesis cilium|cytoplasm|integral to membrane|neuronal cell body|plasma membrane G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding biliary_tract(1)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(14)|liver(1)|lung(11)|pancreas(2)|prostate(1)|skin(20)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 GGCACCATGAGGCTTGGGGAG 0.592000 Mis skin basal cell 18 102 0 0 1 0 0 CDC42BPG 55561 broad.mit.edu 37 11 64597389 64597389 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:64597389G>A ENST00000342711.5 - 30 3520 c.3521C>T c.(3520-3522)cCc>cTc p.P1174L NM_017525.2 NP_059995.2 Q6DT37 MRCKG_HUMAN CDC42 binding protein kinase gamma (DMPK-like) 1174 CNH. actin cytoskeleton reorganization|intracellular signal transduction cell leading edge|centrosome ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity central_nervous_system(1)|lung(3) 4 TCGAGACTCGGGGATCTTGGC 0.662000 20 76 0 0 1 0 0 LCE1E 353135 broad.mit.edu 37 1 152759815 152759815 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:152759815C>T ENST00000368770.3 + 2 93 c.40C>T c.(40-42)Ccc>Tcc p.P14S LCE1E_ENST00000368771.1_Missense_Mutation_p.P14S NM_178353.1 NP_848130.1 Q5T753 LCE1E_HUMAN late cornified envelope 1E 14 Cys-rich. keratinization lung(5)|stomach(1) 6 Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) CCAGCCCCctcccaagtgcac 0.592000 167 170 0 0 1 0 0 DOCK8 81704 broad.mit.edu 37 9 449879 449879 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:449879G>A ENST00000432829.2 + 45 6025 c.5709G>A c.(5707-5709)aaG>aaA p.K1903K DOCK8_ENST00000453981.1_Silent_p.K1971K|DOCK8_ENST00000469391.1_Silent_p.K1871K|DOCK8_ENST00000382329.1_Silent_p.K1438K NM_203447.3 NP_982272.2 Q8NF50 DOCK8_HUMAN dedicator of cytokinesis 8 1971 blood coagulation cytosol GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 65 all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128) all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942) CTGATGCAAAGATGCTTCAGA 0.463000 81 40 0 0 1 0 0 OR8H3 390152 broad.mit.edu 37 11 55890598 55890598 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:55890598C>T ENST00000313472.3 + 1 750 c.750C>T c.(748-750)atC>atT p.I250I NM_001005201.1 NP_001005201.1 Q8N146 OR8H3_HUMAN olfactory receptor, family 8, subfamily H, member 3 250 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1) 42 Esophageal squamous(21;0.00693) GAGTCACCATCTTCTATGGAA 0.393000 9 153 0 0 1 0 0 LBR 3930 broad.mit.edu 37 1 225594413 225594413 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:225594413G>A ENST00000338179.2 - 11 1561 c.1436C>T c.(1435-1437)cCa>cTa p.P479L LBR_ENST00000272163.4_Missense_Mutation_p.P479L NM_194442.2 NP_919424.1 Q14739 LBR_HUMAN lamin B receptor 479 cholesterol biosynthetic process integral to nuclear inner membrane chromo shadow domain binding|delta14-sterol reductase activity|DNA binding|lamin binding|receptor activity breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 22 Breast(184;0.165) GBM - Glioblastoma multiforme(131;0.117) CACTTCATTTGGATGACTGAC 0.368000 64 100 0 0 1 0 0 DHCR7 1717 broad.mit.edu 37 11 71155112 71155112 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:71155112G>A ENST00000355527.3 - 4 524 c.248C>T c.(247-249)tCg>tTg p.S83L DHCR7_ENST00000407721.2_Missense_Mutation_p.S83L NM_001163817.1|NM_001360.2 NP_001157289.1|NP_001351.2 Q9UBM7 DHCR7_HUMAN 7-dehydrocholesterol reductase 83 cholesterol biosynthetic process endoplasmic reticulum membrane|integral to membrane|nuclear outer membrane 7-dehydrocholesterol reductase activity|protein binding endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(1)|skin(1) 19 NADH(DB00157) CCAGATGTCCGAGAGCCGAGC 0.602000 Smith-Lemli-Opitz syndrome 7 18 0 0 1 0 0 AQR 9716 broad.mit.edu 37 15 35155081 35155081 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr15:35155081G>A ENST00000156471.5 - 33 4241 c.4016C>T c.(4015-4017)cCa>cTa p.P1339L NM_014691.2 NP_055506.1 O60306 AQR_HUMAN aquarius intron-binding spliceosomal factor 1339 catalytic step 2 spliceosome RNA binding breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(10)|lung(18)|ovary(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2) 57 Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08) all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283) TCTAGTAGTTGGGAAAGGTTC 0.408000 7 78 0 0 1 0 0 PAK7 57144 broad.mit.edu 37 20 9546684 9546684 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr20:9546684C>T ENST00000378429.3 - 6 1884 c.1338G>A c.(1336-1338)agG>agA p.R446R PAK7_ENST00000353224.5_Silent_p.R446R|PAK7_ENST00000378423.1_Silent_p.R446R NM_020341.3 NP_065074.1 Q9P286 PAK7_HUMAN p21 protein (Cdc42/Rac)-activated kinase 7 446 Linker. ATP binding|protein binding|protein serine/threonine kinase activity NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3) 81 COAD - Colon adenocarcinoma(9;0.194) CCAAGTATTCCCTGGGGTCTC 0.587000 52 102 0 0 1 0 0 BCL11B 64919 broad.mit.edu 37 14 99641307 99641307 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr14:99641307G>A ENST00000345514.2 - 3 1919 c.1653C>T c.(1651-1653)gcC>gcT p.A551A BCL11B_ENST00000443726.2_Silent_p.A428A|BCL11B_ENST00000357195.3_Silent_p.A622A NM_022898.1 NP_075049.1 Q9C0K0 BC11B_HUMAN B-cell CLL/lymphoma 11B (zinc finger protein) 622 Glu-rich. nucleus zinc ion binding NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2) 34 Melanoma(154;0.0866)|all_epithelial(191;0.241) COAD - Colon adenocarcinoma(157;0.103) GCTTCAGGAAGGCGCCGCGCT 0.761000 T TLX3 T-ALL 10 12 0 0 1 0 0 CLSTN2 64084 broad.mit.edu 37 3 140123455 140123455 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:140123455G>A ENST00000458420.3 + 4 674 c.484G>A c.(484-486)Gag>Aag p.E162K NM_022131.2 NP_071414.2 Q9H4D0 CSTN2_HUMAN calsyntenin 2 162 Cadherin 2. homophilic cell adhesion endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 87 CACCTTCAAAGAGCCAGCCTA 0.532000 HNSCC(16;0.037) 22 72 0 0 1 0 0 HECTD1 25831 broad.mit.edu 37 14 31598528 31598528 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr14:31598528G>A ENST00000399332.1 - 25 4537 c.4049C>T c.(4048-4050)tCa>tTa p.S1350L HECTD1_ENST00000553700.1_Missense_Mutation_p.S1350L NM_015382.2 NP_056197.2 Q9ULT8 HECD1_HUMAN HECT domain containing E3 ubiquitin protein ligase 1 1350 Ser-rich. protein ubiquitination involved in ubiquitin-dependent protein catabolic process intracellular metal ion binding|protein binding|ubiquitin-protein ligase activity breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 70 Hepatocellular(127;0.0877)|Breast(36;0.176) LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173) GBM - Glioblastoma multiforme(265;0.00617) AACAGTGGATGAAACAGGTTT 0.498000 5 154 0 0 1 0 0 WBSCR17 64409 broad.mit.edu 37 7 70880906 70880906 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:70880906C>T ENST00000333538.5 + 4 1255 c.621C>T c.(619-621)gtC>gtT p.V207V WBSCR17_ENST00000498380.2_3'UTR NM_022479.1 NP_071924.1 Q6IS24 GLTL3_HUMAN Williams-Beuren syndrome chromosome region 17 207 Catalytic subdomain A. Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 100 all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125) AGGAGTATGTCCACAAACGCT 0.512000 27 92 0 0 1 0 0 ASTN1 460 broad.mit.edu 37 1 176863825 176863825 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:176863825C>T ENST00000367654.2 - 17 2850 c.2837G>A c.(2836-2838)cGa>cAa p.R946Q ASTN1_ENST00000367657.3_Missense_Mutation_p.R938Q|ASTN1_ENST00000361833.2_Missense_Mutation_p.R938Q|ASTN1_ENST00000424564.2_Missense_Mutation_p.R938Q O14525 ASTN1_HUMAN astrotactin 1 946 cell migration|neuron cell-cell adhesion integral to membrane NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3) 153 CGAGGGGCATCGTCCCTTGCT 0.602000 61 154 0 0 1 0 0 PASD1 139135 broad.mit.edu 37 X 150841133 150841133 + Splice_Site SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chrX:150841133G>A ENST00000370357.4 + 14 2161 c.1916_splice c.e14+1 p.S639_splice NM_173493.2 NP_775764.2 Q8IV76 PASD1_HUMAN PAS domain containing 1 639 nucleus signal transducer activity breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 48 Acute lymphoblastic leukemia(192;6.56e-05) GAGAGTCAAAGGTAAGACATG 0.488000 44 18 0 0 1 0 0 PRUNE2 158471 broad.mit.edu 37 9 79325331 79325331 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:79325331G>A ENST00000428286.1 - 8 1982 c.782C>T c.(781-783)tCg>tTg p.S261L PRUNE2_ENST00000376718.3_Missense_Mutation_p.S620L Q8WUY3 PRUN2_HUMAN prune homolog 2 (Drosophila) 620 apoptosis|G1 phase|induction of apoptosis cytoplasm metal ion binding|pyrophosphatase activity endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1) 16 AGTGGATGGCGAGCTTTCTAC 0.483000 36 67 0 0 1 0 0 SEC16B 89866 broad.mit.edu 37 1 177928106 177928106 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:177928106C>T ENST00000308284.6 - 9 1092 c.1003G>A c.(1003-1005)Gat>Aat p.D335N RP4-798P15.3_ENST00000528461.1_Missense_Mutation_p.R314K|RP4-798P15.3_ENST00000354921.2_5'UTR|SEC16B_ENST00000464631.1_Missense_Mutation_p.D336N NM_033127.2 NP_149118.2 Q96JE7 SC16B_HUMAN SEC16 homolog B (S. cerevisiae) 335 protein transport|vesicle-mediated transport endoplasmic reticulum membrane|Golgi membrane central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1) 35 TTATGTACATCTTCCCTACAT 0.507000 4 39 0 0 1 0 0 APOB 338 broad.mit.edu 37 2 21252650 21252650 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:21252650C>T ENST00000233242.1 - 12 1605 c.1478G>A c.(1477-1479)gGa>gAa p.G493E APOB_ENST00000399256.4_Missense_Mutation_p.G493E NM_000384.2 NP_000375.2 P04114 APOB_HUMAN apolipoprotein B 493 Vitellogenin. cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6) 305 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) GCCCATATTTCCAATGACCTG 0.428000 54 105 0 0 1 0 0 ALPPL2 251 broad.mit.edu 37 2 233274325 233274325 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:233274325G>A ENST00000295453.3 + 11 1394 c.1342G>A c.(1342-1344)Gga>Aga p.G448R NM_031313.2 NP_112603.2 P10696 PPBN_HUMAN alkaline phosphatase, placental-like 2 448 phosphorylation anchored to membrane|plasma membrane alkaline phosphatase activity|metal ion binding breast(2)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(1) 13 all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132) Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196) Amifostine(DB01143)|Levamisole(DB00848) GCCCCTGGACGGAGAGACCCA 0.637000 17 36 0 0 1 0 0 SENP1 29843 broad.mit.edu 37 12 48440204 48440204 + Missense_Mutation SNP A A C TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:48440204A>C ENST00000004980.5 - 17 2285 c.1807T>G c.(1807-1809)Tgt>Ggt p.C603G SENP1_ENST00000448372.1_Missense_Mutation_p.C602G|SENP1_ENST00000549595.1_Missense_Mutation_p.C602G|SENP1_ENST00000551330.1_Missense_Mutation_p.C603G|SENP1_ENST00000549518.1_Missense_Mutation_p.C603G|SENP1_ENST00000339976.6_3'UTR Q9P0U3 SENP1_HUMAN SUMO1/sentrin specific peptidase 1 603 Protease. activation of caspase activity|induction of apoptosis by extracellular signals|protein desumoylation|proteolysis cytoplasm|nucleus endopeptidase activity|SUMO-specific protease activity large_intestine(3)|lung(1)|pancreas(2)|stomach(1) 7 Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214) AACATCCCACAGTCACTTCCA 0.408000 48 128 0 0 1 0 0 ABCA8 10351 broad.mit.edu 37 17 66933110 66933110 + Missense_Mutation SNP C C T rs146420113 TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:66933110C>T ENST00000269080.2 - 4 585 c.448G>A c.(448-450)Gag>Aag p.E150K ABCA8_ENST00000430352.2_Missense_Mutation_p.E150K|ABCA8_ENST00000586539.1_Missense_Mutation_p.E150K NM_007168.2 NP_009099.1 O94911 ABCA8_HUMAN ATP-binding cassette, sub-family A (ABC1), member 8 150 integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4) 83 Breast(10;4.56e-13) TCCTTGTGCTCCTTCTTTGCT 0.363000 4 112 0 0 1 0 0 RNF213 57674 broad.mit.edu 37 17 78321625 78321625 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:78321625C>T ENST00000582970.1 + 29 9633 c.9490C>T c.(9490-9492)Ccc>Tcc p.P3164S RNF213_ENST00000336301.6_Missense_Mutation_p.P1237S|RNF213_ENST00000508628.2_Missense_Mutation_p.P3213S NM_001256071.1 NP_001243000.1 Q9HCF4 ALO17_HUMAN ring finger protein 213 0 NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 130 all_neural(118;0.0538) BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057) CTTTCCCATCCCCCTCATTAA 0.542000 29 83 0 0 1 0 0 PDE4DIP 9659 broad.mit.edu 37 1 144906197 144906197 + Splice_Site SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:144906197C>T ENST00000529945.1 - 15 3365 c.e15-1 PDE4DIP_ENST00000524974.1_Intron|PDE4DIP_ENST00000313431.9_Splice_Site|PDE4DIP_ENST00000313382.9_Splice_Site|PDE4DIP_ENST00000369351.3_Splice_Site|PDE4DIP_ENST00000479408.2_Splice_Site|PDE4DIP_ENST00000369356.4_Splice_Site|PDE4DIP_ENST00000530740.1_Splice_Site|PDE4DIP_ENST00000369359.4_Splice_Site|PDE4DIP_ENST00000369349.3_Splice_Site|PDE4DIP_ENST00000369354.3_Splice_Site Q5VU43 MYOME_HUMAN phosphodiesterase 4D interacting protein cellular protein complex assembly centrosome|Golgi apparatus|myofibril|nucleus enzyme binding NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 176 Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126) TTTGCAGGTCCTAGAAGTCAA 0.388000 T PDGFRB MPD 7 205 0 0 1 0 0 TBC1D9 23158 broad.mit.edu 37 4 141543768 141543768 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:141543768C>T ENST00000442267.2 - 21 3456 c.3382G>A c.(3382-3384)Gga>Aga p.G1128R NM_015130.2 NP_055945.2 Q6ZT07 TBCD9_HUMAN TBC1 domain family, member 9 (with GRAM domain) 1128 intracellular calcium ion binding|Rab GTPase activator activity endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1) 31 all_hematologic(180;0.162) Medulloblastoma(177;0.00498) TCCATTTGTCCTCCAAGGGAG 0.637000 8 98 0 0 1 0 0 ARHGAP12 94134 broad.mit.edu 37 10 32197242 32197242 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:32197242G>A ENST00000375250.5 - 3 783 c.542C>T c.(541-543)cCc>cTc p.P181L ARHGAP12_ENST00000375245.4_Missense_Mutation_p.P181L|ARHGAP12_ENST00000311380.4_Missense_Mutation_p.P181L|ARHGAP12_ENST00000344936.2_Missense_Mutation_p.P181L|ARHGAP12_ENST00000396144.4_Missense_Mutation_p.P181L NM_001270696.1 NP_001257625.1 Q8IWW6 RHG12_HUMAN Rho GTPase activating protein 12 181 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(11)|lung(10)|skin(1)|urinary_tract(2) 31 Prostate(175;0.0199) CTCTGGACCGGGAAAATGACC 0.433000 36 92 0 0 1 0 0 ABI3BP 25890 broad.mit.edu 37 3 100566502 100566502 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:100566502G>A ENST00000471714.1 - 19 1722 c.1613C>T c.(1612-1614)gCc>gTc p.A538V ABI3BP_ENST00000284322.5_Missense_Mutation_p.A489V|ABI3BP_ENST00000495063.1_Missense_Mutation_p.A538V Q7Z7G0 TARSH_HUMAN ABI family, member 3 (NESH) binding protein 489 Pro-rich. extracellular space central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 50 AATTGTTCCGGCACTTGTGGT 0.363000 8 172 0 0 1 0 0 KRTAP9-4 85280 broad.mit.edu 37 17 39406167 39406167 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:39406167C>T ENST00000334109.2 + 1 229 c.195C>T c.(193-195)acC>acT p.T65T NM_033191.2 NP_149461.2 Q9BYQ2 KRA94_HUMAN keratin associated protein 9-4 65 15 X 5 AA repeats of C-C-[RQVGE]-[SPTN]- [TASPF]. keratin filament breast(1)|large_intestine(1)|lung(11)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 18 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000397) GCCAGCCCACCTGTGTGACCA 0.647000 80 121 0 0 1 0 0 SLC8A2 6543 broad.mit.edu 37 19 47969346 47969346 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:47969346C>T ENST00000236877.6 - 2 710 c.315G>A c.(313-315)aaG>aaA p.K105K SLC8A2_ENST00000539381.1_Intron|SLC8A2_ENST00000542837.1_Intron NM_015063.2 NP_055878.1 Q9UPR5 NAC2_HUMAN solute carrier family 8 (sodium/calcium exchanger), member 2 105 cell communication|platelet activation integral to membrane|plasma membrane calcium:sodium antiporter activity|calmodulin binding breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(5)|stomach(1) 31 all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173) OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457) TGGTGATCTCCTTCTCTTTTG 0.567000 9 131 0 0 1 0 0 IGSF10 285313 broad.mit.edu 37 3 151155646 151155646 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:151155646G>A ENST00000282466.3 - 6 6702 c.6703C>T c.(6703-6705)Cca>Tca p.P2235S IGSF10_ENST00000495443.1_5'UTR NM_001178145.1|NM_001178146.1|NM_178822.4 NP_001171616.1|NP_001171617.1|NP_849144.2 Q6WRI0 IGS10_HUMAN immunoglobulin superfamily, member 10 2235 Ig-like C2-type 9. cell differentiation|multicellular organismal development|ossification extracellular region NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3) 116 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) TTGATTAATGGAGGTTTAGAG 0.433000 56 105 0 0 1 0 0 RADIL 55698 broad.mit.edu 37 7 4917275 4917275 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:4917275C>T ENST00000399583.3 - 2 683 c.496G>A c.(496-498)Gag>Aag p.E166K RADIL_ENST00000536091.1_Missense_Mutation_p.E166K NM_018059.4 NP_060529.4 Q96JH8 RADIL_HUMAN Ras association and DIL domains 166 cell adhesion|multicellular organismal development|signal transduction protein binding NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 Ovarian(82;0.0175) UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15) GCCAGCTCCTCCACGTCCGAC 0.602000 54 75 0 0 1 0 0 CANX 821 broad.mit.edu 37 5 179143235 179143235 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:179143235C>T ENST00000247461.4 + 8 1051 c.851C>T c.(850-852)cCc>cTc p.P284L CANX_ENST00000503126.1_3'UTR|CANX_ENST00000452673.2_Missense_Mutation_p.P284L|CANX_ENST00000504734.1_Missense_Mutation_p.P284L|CANX_ENST00000512607.2_Missense_Mutation_p.P176L|CANX_ENST00000415618.2_Missense_Mutation_p.P319L NM_001746.3 NP_001737.1 P27824 CALX_HUMAN calnexin 284 4 X approximate repeats.|P domain (Extended arm) (By similarity). post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|protein secretion endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane|melanosome calcium ion binding|sugar binding|unfolded protein binding breast(1)|endometrium(3)|kidney(4)|large_intestine(2)|lung(7)|prostate(2)|urinary_tract(3) 22 all_cancers(89;0.000129)|all_epithelial(37;5.59e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218) all_cancers(40;0.0413)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Reteplase(DB00015)|Tenecteplase(DB00031) GACCGGAAGCCCGAGGATTGG 0.478000 4 127 0 0 1 0 0 MKI67 4288 broad.mit.edu 37 10 129913966 129913966 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:129913966G>A ENST00000368654.3 - 7 1081 c.706C>T c.(706-708)Ccc>Tcc p.P236S MKI67_ENST00000368653.3_Intron NM_002417.4 NP_002408.3 P46013 KI67_HUMAN marker of proliferation Ki-67 236 cell proliferation nucleolus ATP binding|protein C-terminus binding NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4) 159 all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203) TTCCAAAAGGGAGATTCATTT 0.333000 26 56 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179560996 179560996 + Splice_Site SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:179560996G>A ENST00000589042.1 - 114 31027 c.30802_splice c.e114-1 p.A10268_splice TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Splice_Site_p.A9951_splice|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Splice_Site_p.A9024_splice|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000431752.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 9951 Glu-rich.|Pro-rich. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GATTTCAGGAGCTAAAATAGA 0.308000 3 7 0 0 1 0 0 NCR1 9437 broad.mit.edu 37 19 55421422 55421422 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:55421422C>T ENST00000594765.1 + 5 704 c.679C>T c.(679-681)Cct>Tct p.P227S NCR1_ENST00000357397.5_Missense_Mutation_p.P120S|NCR1_ENST00000598576.1_Missense_Mutation_p.P215S|NCR1_ENST00000338835.5_Missense_Mutation_p.P227S|NCR1_ENST00000350790.5_Missense_Mutation_p.P132S|NCR1_ENST00000291890.4_Missense_Mutation_p.P227S|NCR1_ENST00000447255.1_Missense_Mutation_p.P227S O76036 NCTR1_HUMAN natural cytotoxicity triggering receptor 1 227 cellular defense response|natural killer cell activation|regulation of natural killer cell mediated cytotoxicity integral to plasma membrane|SWI/SNF complex receptor activity|receptor signaling protein activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1) 18 GBM - Glioblastoma multiforme(193;0.0449) CCCCACCTTTCCTGGTGAGTA 0.478000 86 189 0 0 1 0 0 OSBPL5 114879 broad.mit.edu 37 11 3114763 3114763 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:3114763G>A ENST00000263650.7 - 17 2099 c.1940C>T c.(1939-1941)tCc>tTc p.S647F OSBPL5_ENST00000478260.1_Missense_Mutation_p.S101F|OSBPL5_ENST00000542243.1_Missense_Mutation_p.S278F|OSBPL5_ENST00000348039.5_Missense_Mutation_p.S579F|OSBPL5_ENST00000389989.3_Missense_Mutation_p.S579F|OSBPL5_ENST00000525498.1_Missense_Mutation_p.S558F NM_020896.3 NP_065947.1 Q9H0X9 OSBL5_HUMAN oxysterol binding protein-like 5 647 cholesterol metabolic process|cholesterol transport|Golgi to plasma membrane transport cytosol oxysterol binding|protein binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1) 25 all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681) BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207) TCACCTCTCGGACTCCAGCTC 0.667000 66 56 0 0 1 0 0 MACROD1 28992 broad.mit.edu 37 11 63933228 63933228 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:63933228G>A ENST00000255681.6 - 1 305 c.239C>T c.(238-240)cCc>cTc p.P80L MACROD1_ENST00000538595.1_5'UTR NM_014067.3 NP_054786.2 Q9BQ69 MACD1_HUMAN MACRO domain containing 1 80 breast(1)|large_intestine(3)|lung(6)|skin(1) 11 CATGGCCAGGGGGGCCCAAGT 0.731000 8 23 0 0 1 0 0 KIF5A 3798 broad.mit.edu 37 12 57961348 57961348 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:57961348G>A ENST00000455537.2 + 8 935 c.661G>A c.(661-663)Gag>Aag p.E221K KIF5A_ENST00000286452.5_Missense_Mutation_p.E132K NM_004984.2 NP_004975.2 Q12840 KIF5A_HUMAN kinesin family member 5A 221 Kinesin-motor.|Microtubule-binding. blood coagulation|cell death|microtubule-based movement|synaptic transmission cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm ATP binding|microtubule motor activity breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2) 62 CATGGAAACGGAGCAGAAGCT 0.542000 5 62 0 0 1 0 0 ZCCHC11 23318 broad.mit.edu 37 1 52937736 52937736 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:52937736G>A ENST00000371544.3 - 14 3028 c.2766C>T c.(2764-2766)ggC>ggT p.G922G ZCCHC11_ENST00000257177.4_Silent_p.G922G|ZCCHC11_ENST00000371541.1_5'UTR NM_001009881.2|NM_015269.2 NP_001009881.1|NP_056084.1 Q5TAX3 TUT4_HUMAN zinc finger, CCHC domain containing 11 922 miRNA catabolic process|pre-miRNA processing|RNA 3'-end processing|stem cell maintenance cytoplasm|nucleolus nucleic acid binding|protein binding|RNA uridylyltransferase activity|zinc ion binding NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 58 TCTTTGAATGGCCATCCTTTT 0.353000 16 38 0 0 1 0 0 TGIF2LY 90655 broad.mit.edu 37 Y 3447680 3447680 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chrY:3447680C>T ENST00000559055.2 + 1 525 c.395C>T c.(394-396)gCc>gTc p.A132V TGIF2LY_ENST00000321217.4_Missense_Mutation_p.A132V Q8IUE0 TF2LY_HUMAN TGFB-induced factor homeobox 2-like, Y-linked 132 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity kidney(1)|upper_aerodigestive_tract(1) 2 GATGCCCATGCCACCCACCTG 0.577000 8 14 0 0 1 0 0 GPX5 2880 broad.mit.edu 37 6 28501874 28501874 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:28501874C>T ENST00000412168.2 + 5 685 c.596C>T c.(595-597)tCc>tTc p.S199F GPX5_ENST00000442674.2_3'UTR NM_001509.2 NP_001500.1 O75715 GPX5_HUMAN glutathione peroxidase 5 (epididymal androgen-related protein) 199 lipid metabolic process|response to oxidative stress extracellular region glutathione peroxidase activity endometrium(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 16 Glutathione(DB00143) ATGCGCTGGTCCCACCGGGCT 0.507000 42 115 0 0 1 0 0 NALCN 259232 broad.mit.edu 37 13 102029367 102029367 + Nonsense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr13:102029367C>T ENST00000251127.6 - 5 497 c.416G>A c.(415-417)tGg>tAg p.W139* NALCN_ENST00000376196.3_Nonsense_Mutation_p.W139*|NALCN_ENST00000376200.5_Nonsense_Mutation_p.W139*|NALCN_ENST00000470333.1_5'UTR NM_052867.2 NP_443099.1 Q8IZF0 NALCN_HUMAN sodium leak channel, non-selective 139 integral to membrane sodium channel activity|voltage-gated ion channel activity NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 177 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) CAACATGCCCCAAGGTGACAT 0.388000 27 33 0 0 1 0 0 C1orf106 55765 broad.mit.edu 37 1 200868617 200868617 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:200868617C>T ENST00000367342.4 + 3 527 c.327C>T c.(325-327)gtC>gtT p.V109V C1orf106_ENST00000413687.2_Silent_p.V24V NM_018265.3 NP_060735.3 Q3KP66 CA106_HUMAN chromosome 1 open reading frame 106 109 endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(2) 21 ACAGCCCGGTCTCCCCAATGA 0.627000 36 89 0 0 1 0 0 TRRAP 8295 broad.mit.edu 37 7 98574227 98574227 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:98574227C>T ENST00000359863.4 + 54 8269 c.8060C>T c.(8059-8061)cCc>cTc p.P2687L TRRAP_ENST00000355540.3_Missense_Mutation_p.P2669L|TRRAP_ENST00000446306.3_Missense_Mutation_p.P2669L NM_001244580.1 NP_001231509.1 Q9Y4A5 TRRAP_HUMAN transformation/transcription domain-associated protein 2687 histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2) 176 all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274) STAD - Stomach adenocarcinoma(171;0.215) CCGCCAATCCCCATCCGACCC 0.602000 25 143 0 0 1 0 0 DNAH3 55567 broad.mit.edu 37 16 20994193 20994193 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr16:20994193C>T ENST00000261383.3 - 49 7708 c.7709G>A c.(7708-7710)gGg>gAg p.G2570E DNAH3_ENST00000415178.1_3'UTR NM_017539.1 NP_060009.1 Q8TD57 DYH3_HUMAN dynein, axonemal, heavy chain 3 2570 AAA 4 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6) 202 GBM - Glioblastoma multiforme(48;0.207) GAAGGCATCCCCTATTGGACT 0.517000 36 94 0 0 1 0 0 C6orf195 154386 broad.mit.edu 37 6 2623954 2623954 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:2623954G>A ENST00000296847.3 - 3 626 c.103C>T c.(103-105)Cca>Tca p.P35S NM_152554.2 NP_689767.2 Q96MT4 CF195_HUMAN chromosome 6 open reading frame 195 35 cervix(1)|endometrium(1)|lung(2)|skin(1) 5 Ovarian(93;0.0412) all_hematologic(90;0.0895) TGGCAGAGTGGCTCCATGCCA 0.602000 31 81 0 0 1 0 0 L3MBTL4 91133 broad.mit.edu 37 18 5969487 5969487 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr18:5969487G>A ENST00000284898.6 - 18 1746 c.1546C>T c.(1546-1548)Cgg>Tgg p.R516W L3MBTL4_ENST00000400105.2_Missense_Mutation_p.R516W|L3MBTL4_ENST00000317931.7_Missense_Mutation_p.R507W|L3MBTL4_ENST00000535782.1_Missense_Mutation_p.R320W NM_173464.3 NP_775735.2 Q8NA19 LMBL4_HUMAN l(3)mbt-like 4 (Drosophila) 516 chromatin modification nucleus sequence-specific DNA binding transcription factor activity|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 Colorectal(10;0.0249) GGAAGGTCCCGAAAAGGGTGG 0.612000 81 103 0 0 1 0 0 RUNDC3B 154661 broad.mit.edu 37 7 87399925 87399925 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:87399925G>A ENST00000338056.3 + 8 1120 c.709G>A c.(709-711)Gag>Aag p.E237K RUNDC3B_ENST00000496000.1_3'UTR|RUNDC3B_ENST00000394654.3_Missense_Mutation_p.E220K|RUNDC3B_ENST00000493037.1_Missense_Mutation_p.E220K NM_001134405.1|NM_138290.2 NP_001127877.1|NP_612147.1 Q96NL0 RUN3B_HUMAN RUN domain containing 3B 237 breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(2) 26 Esophageal squamous(14;0.00164) TGATGAGGAGGAGCTAAGGAC 0.383000 14 43 0 0 1 0 0 SHISA3 152573 broad.mit.edu 37 4 42403287 42403287 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:42403287C>T ENST00000319234.4 + 2 754 c.536C>T c.(535-537)tCc>tTc p.S179F NM_001080505.1 NP_001073974.1 A0PJX4 SHSA3_HUMAN shisa family member 3 179 multicellular organismal development endoplasmic reticulum membrane|integral to membrane endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 12 CGCAGGTTCTCCTTTGCCAGG 0.672000 51 93 0 0 1 0 0 SERPINA4 5267 broad.mit.edu 37 14 95030033 95030033 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr14:95030033G>A ENST00000557004.1 + 2 635 c.214G>A c.(214-216)Ggg>Agg p.G72R SERPINA4_ENST00000555095.1_Missense_Mutation_p.G72R|SERPINA5_ENST00000553780.1_Intron|SERPINA4_ENST00000298841.5_Missense_Mutation_p.G72R P29622 KAIN_HUMAN serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4 72 regulation of proteolysis extracellular space serine-type endopeptidase inhibitor activity breast(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(28)|ovary(3)|skin(1)|urinary_tract(1) 46 COAD - Colon adenocarcinoma(157;0.211) GGAGACCCCGGGGAAGAACAT 0.607000 4 139 0 0 1 0 0 GABRG1 2565 broad.mit.edu 37 4 46067403 46067403 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:46067403C>T ENST00000295452.4 - 4 687 c.520G>A c.(520-522)Gga>Aga p.G174R NM_173536.3 NP_775807.2 Q8N1C3 GBRG1_HUMAN gamma-aminobutyric acid (GABA) A receptor, gamma 1 174 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 76 Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23) AGAACTCGTCCATCATTCCAA 0.308000 21 63 0 0 1 0 0 ARHGAP20 57569 broad.mit.edu 37 11 110450851 110450851 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:110450851G>A ENST00000260283.4 - 16 3103 c.2819C>T c.(2818-2820)tCc>tTc p.S940F ARHGAP20_ENST00000528829.1_Missense_Mutation_p.S904F|ARHGAP20_ENST00000357139.3_Missense_Mutation_p.S914F|ARHGAP20_ENST00000533353.1_Missense_Mutation_p.S914F|ARHGAP20_ENST00000527598.1_Missense_Mutation_p.S904F|ARHGAP20_ENST00000524756.1_Missense_Mutation_p.S917F|ARHGAP20_ENST00000529591.1_Missense_Mutation_p.S483F NM_020809.3 NP_065860.2 Q9P2F6 RHG20_HUMAN Rho GTPase activating protein 20 940 Ser-rich. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(18)|lung(13)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 60 all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544) Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475) AGTGCCTGGGGAGGATAAGCT 0.483000 35 72 0 0 1 0 0 TRANK1 9881 broad.mit.edu 37 3 36898965 36898965 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:36898965G>A ENST00000429976.2 - 12 2363 c.2116C>T c.(2116-2118)Cca>Tca p.P706S TRANK1_ENST00000428977.2_Missense_Mutation_p.P156S|TRANK1_ENST00000301807.6_Missense_Mutation_p.P156S O15050 TRNK1_HUMAN tetratricopeptide repeat and ankyrin repeat containing 1 706 DNA repair ATP binding|ATP-dependent DNA helicase activity|DNA binding NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 73 CAGTCCTCTGGGAAAGACGGA 0.562000 5 65 0 0 1 0 0 SLC5A11 115584 broad.mit.edu 37 16 24895388 24895388 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr16:24895388G>A ENST00000347898.3 + 8 1222 c.600G>A c.(598-600)gtG>gtA p.V200V SLC5A11_ENST00000545376.1_Silent_p.V130V|SLC5A11_ENST00000565769.1_Silent_p.V136V|SLC5A11_ENST00000424767.2_Silent_p.V165V|SLC5A11_ENST00000568579.1_Silent_p.V130V|SLC5A11_ENST00000539472.1_Silent_p.V136V|SLC5A11_ENST00000569071.1_Silent_p.V136V|SLC5A11_ENST00000567758.1_Silent_p.V165V|SLC5A11_ENST00000449109.2_Silent_p.V136V NM_052944.3 NP_443176.2 Q8WWX8 SC5AB_HUMAN solute carrier family 5 (sodium/inositol cotransporter), member 11 200 apoptosis|carbohydrate transport|sodium ion transport integral to membrane|plasma membrane polyol transmembrane transporter activity|symporter activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(30)|ovary(2)|prostate(2)|urinary_tract(1) 49 GBM - Glioblastoma multiforme(48;0.0365) TGGCTGCTGTGATCTACACGG 0.597000 110 249 0 0 1 0 0 SYNE1 23345 broad.mit.edu 37 6 152737542 152737542 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:152737542G>A ENST00000367255.5 - 41 6631 c.6030C>T c.(6028-6030)acC>acT p.T2010T SYNE1_ENST00000265368.4_Silent_p.T2010T|SYNE1_ENST00000423061.1_Silent_p.T2017T|SYNE1_ENST00000448038.1_Silent_p.T2017T|SYNE1_ENST00000341594.5_Silent_p.T2047T NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 2010 cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19) 524 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) GAGCTTGGCGGGTAGGTTCTT 0.393000 HNSCC(10;0.0054) 98 223 0 0 1 0 0 FYTTD1 84248 broad.mit.edu 37 3 197483326 197483326 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:197483326G>A ENST00000241502.3 + 2 355 c.133G>A c.(133-135)Ggg>Agg p.G45R FYTTD1_ENST00000428395.2_5'UTR|FYTTD1_ENST00000415708.2_Missense_Mutation_p.G19R|FYTTD1_ENST00000424384.2_5'UTR NM_032288.6 NP_115664.2 Q96QD9 UIF_HUMAN forty-two-three domain containing 1 45 mRNA export from nucleus nuclear speck mRNA binding|protein binding kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(1) 13 all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976) Lung NSC(153;0.132) Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(93;0.175) TCGAAAGGAAGGGAAGAAGCA 0.378000 36 68 0 0 1 0 0 PKHD1L1 93035 broad.mit.edu 37 8 110408258 110408258 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:110408258G>A ENST00000378402.5 + 11 918 c.814G>A c.(814-816)Gtc>Atc p.V272I NM_177531.4 NP_803875.2 Q86WI1 PKHL1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 272 IPT/TIG 3. immune response cytosol|extracellular space|integral to membrane receptor activity NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4) 263 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) TCCCCCAGAGGTCACCATGAT 0.393000 HNSCC(38;0.096) 4 12 0 0 1 0 0 NWD1 284434 broad.mit.edu 37 19 16860971 16860971 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:16860971C>T ENST00000524140.2 + 6 1936 c.1518C>T c.(1516-1518)ctC>ctT p.L506L NWD1_ENST00000379808.3_Silent_p.L506L|NWD1_ENST00000552788.1_Silent_p.L506L|NWD1_ENST00000339803.6_Silent_p.L371L|NWD1_ENST00000549814.1_Silent_p.L506L|NWD1_ENST00000523826.1_Silent_p.L300L NM_001007525.3 NP_001007526.3 Q149M9 NWD1_HUMAN NACHT and WD repeat domain containing 1 506 NACHT. ATP binding NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 67 TGATCCAACTCCTGCTGGCAG 0.642000 37 68 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179582441 179582441 + Missense_Mutation SNP T T C TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:179582441T>C ENST00000589042.1 - 87 25384 c.25160A>G c.(25159-25161)gAa>gGa p.E8387G TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.E8070G|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E7143G|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 8070 Ig-like 66. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TTGAAGAGGTTCTGAGCCATT 0.413000 9 31 0 0 1 0 0 SLC5A6 8884 broad.mit.edu 37 2 27430483 27430483 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:27430483G>A ENST00000310574.3 - 3 509 c.36C>T c.(34-36)tcC>tcT p.S12S SLC5A6_ENST00000408041.1_Silent_p.S12S NM_021095.2 NP_066918.2 Q9Y289 SC5A6_HUMAN solute carrier family 5 (sodium/multivitamin and iodide cotransporter), member 6 12 biotin metabolic process|pantothenate metabolic process integral to plasma membrane|membrane fraction sodium-dependent multivitamin transmembrane transporter activity endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|ovary(3)|prostate(1)|skin(1) 20 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Biotin(DB00121)|Lipoic Acid(DB00166) CCGAGGTTGGGGAAAGAGGGG 0.587000 29 58 0 0 1 0 0 MCTP2 55784 broad.mit.edu 37 15 94928744 94928744 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr15:94928744C>T ENST00000357742.4 + 13 1778 c.1778C>T c.(1777-1779)cCc>cTc p.P593L MCTP2_ENST00000451018.3_Missense_Mutation_p.P593L|MCTP2_ENST00000331706.4_Missense_Mutation_p.P181L|MCTP2_ENST00000557742.1_Missense_Mutation_p.P181L NM_018349.3 NP_060819.3 Q6DN12 MCTP2_HUMAN multiple C2 domains, transmembrane 2 593 calcium-mediated signaling integral to membrane|membrane fraction calcium ion binding autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2) 49 Lung NSC(78;0.0821)|all_lung(78;0.148) BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593) GTTGCCATTCCCTTGCTGTCC 0.358000 64 147 0 0 1 0 0 KRTAP5-8 57830 broad.mit.edu 37 11 71249286 71249286 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:71249286C>T ENST00000398534.3 + 1 216 c.185C>T c.(184-186)tCc>tTc p.S62F NM_021046.2 NP_066384.2 O75690 KRA58_HUMAN keratin associated protein 5-8 62 9 X 4 AA repeats of C-C-X-P. extracellular region|keratin filament structural constituent of epidermis cervix(1)|endometrium(1)|lung(2)|skin(1)|stomach(1) 6 GGCCGTGGCTCCTGTGGGGGC 0.657000 28 507 0 0 1 0 0 ALPK2 115701 broad.mit.edu 37 18 56205220 56205220 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr18:56205220G>A ENST00000361673.3 - 5 2412 c.2199C>T c.(2197-2199)ttC>ttT p.F733F RP11-1151B14.4_ENST00000591360.1_RNA NM_052947.3 NP_443179.3 Q86TB3 ALPK2_HUMAN alpha-kinase 2 733 ATP binding|protein serine/threonine kinase activity NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2) 84 GGTCTTCCCTGAAATTGTCAG 0.468000 68 181 0 0 1 0 0 RAPGEF5 9771 broad.mit.edu 37 7 22233080 22233080 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:22233080G>A ENST00000401957.2 - 1 447 c.200C>T c.(199-201)tCt>tTt p.S67F RAPGEF5_ENST00000344041.6_Intron|RAPGEF5_ENST00000475788.1_Intron|RAPGEF5_ENST00000405243.1_3'UTR Q92565 RPGF5_HUMAN Rap guanine nucleotide exchange factor (GEF) 5 67 nervous system development|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction nucleus GTP-dependent protein binding|Rap guanyl-nucleotide exchange factor activity central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2)|ovary(1) 6 ATATCTGTCAGAGAGCAGAGA 0.512000 3 9 0 0 1 0 0 ZNF546 339327 broad.mit.edu 37 19 40521364 40521364 + Silent SNP C C G TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:40521364C>G ENST00000347077.4 + 7 2403 c.2187C>G c.(2185-2187)acC>acG p.T729T ZNF546_ENST00000596894.1_Intron|ZNF546_ENST00000600094.1_Silent_p.T703T NM_178544.3 NP_848639.2 Q86UE3 ZN546_HUMAN zinc finger protein 546 729 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(15)|lung(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(3) 34 all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925) GTGGAAAGACCTTTAGTCGTC 0.378000 40 68 0 0 1 0 0 RP1 6101 broad.mit.edu 37 8 55537694 55537694 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:55537694G>A ENST00000220676.1 + 4 1400 c.1252G>A c.(1252-1254)Gaa>Aaa p.E418K NM_006269.1 NP_006260.1 P56715 RP1_HUMAN retinitis pigmentosa 1 (autosomal dominant) 418 axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment microtubule binding p.E418K(1) NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2) 169 all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123) OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285) TCAAGTGGCTGAAACTTGCAG 0.453000 47 61 0 0 1 0 0 WDR27 253769 broad.mit.edu 37 6 170088965 170088965 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:170088965G>A ENST00000333572.6 - 2 656 c.137C>T c.(136-138)cCt>cTt p.P46L WDR27_ENST00000448612.1_Missense_Mutation_p.P46L|WDR27_ENST00000420344.2_Missense_Mutation_p.P46L|WDR27_ENST00000423258.1_Missense_Mutation_p.P46L A2RRH5 WDR27_HUMAN WD repeat domain 27 46 p.P46H(3) endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)|skin(1) 12 Breast(66;1.53e-05)|Ovarian(120;0.216) OV - Ovarian serous cystadenocarcinoma(33;6.48e-20)|BRCA - Breast invasive adenocarcinoma(81;3.56e-07)|GBM - Glioblastoma multiforme(31;0.00168) TCCATCCAAAGGGAAAGCACA 0.438000 42 125 0 0 1 0 0 SMTNL1 219537 broad.mit.edu 37 11 57313509 57313509 + Splice_Site SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:57313509G>A ENST00000457912.1 + 5 1127 c.1127_splice c.e5+1 p.G376_splice SMTNL1_ENST00000399154.2_Splice_Site_p.G321_splice|SMTNL1_ENST00000527972.1_Splice_Site_p.G358_splice E9PPJ3 E9PPJ3_HUMAN smoothelin-like 1 358 endometrium(2)|large_intestine(1)|lung(4)|ovary(1) 8 AAGTTTGGCGGGTAGGACACA 0.667000 8 27 0 0 1 0 0 EVPL 2125 broad.mit.edu 37 17 74005095 74005095 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:74005095C>T ENST00000301607.3 - 22 4444 c.4191G>A c.(4189-4191)gaG>gaA p.E1397E EVPL_ENST00000586740.1_Silent_p.E1419E NM_001988.2 NP_001979.2 Q92817 EVPL_HUMAN envoplakin 1397 Central fibrous rod domain. keratinization|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural molecule activity breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4) 54 GGCCCACCTCCTCATCCAGGC 0.697000 71 218 0 0 1 0 0 FOXD4 2298 broad.mit.edu 37 9 117815 117815 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:117815G>A ENST00000382500.2 - 1 602 c.305C>T c.(304-306)cCg>cTg p.P102L NM_207305.4 NP_997188.2 Q12950 FOXD4_HUMAN forkhead box D4 102 axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding endometrium(5)|large_intestine(2)|lung(3)|prostate(1)|skin(3) 14 all_lung(41;0.218) all_cancers(5;0.0395)|Acute lymphoblastic leukemia(5;1.91e-07)|all_hematologic(5;1.95e-06) Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157) all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154) GGGCTTTGCCGGCTGCCGGGC 0.667000 6 298 0 0 1 0 0 ASTN1 460 broad.mit.edu 37 1 177133587 177133587 + Nonsense_Mutation SNP C C A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:177133587C>A ENST00000367654.2 - 1 239 c.226G>T c.(226-228)Gga>Tga p.G76* ASTN1_ENST00000367657.3_Nonsense_Mutation_p.G76*|ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000361833.2_Nonsense_Mutation_p.G76*|ASTN1_ENST00000424564.2_Nonsense_Mutation_p.G76* O14525 ASTN1_HUMAN astrotactin 1 76 cell migration|neuron cell-cell adhesion integral to membrane NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3) 153 ACCATTTCTCCCGGGAAGTCG 0.672000 38 21 7.04047e-22 7.11661e-22 1 1 0 LRRIQ1 84125 broad.mit.edu 37 12 85500302 85500302 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:85500302C>T ENST00000393217.2 + 15 3347 c.3286C>T c.(3286-3288)Ctt>Ttt p.L1096F NM_001079910.1 NP_001073379.1 Q96JM4 LRIQ1_HUMAN leucine-rich repeats and IQ motif containing 1 1096 breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2) 83 GBM - Glioblastoma multiforme(134;0.212) TTCTGTAGATCTTAAAAGTGC 0.323000 37 65 0 0 1 0 0 BCLAF1 9774 broad.mit.edu 37 6 136599228 136599228 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:136599228G>A ENST00000531224.1 - 4 1043 c.791C>T c.(790-792)tCc>tTc p.S264F BCLAF1_ENST00000527536.1_Missense_Mutation_p.S264F|BCLAF1_ENST00000530767.1_Missense_Mutation_p.S264F|BCLAF1_ENST00000392348.2_Missense_Mutation_p.S262F|BCLAF1_ENST00000527759.1_Missense_Mutation_p.S262F|BCLAF1_ENST00000353331.4_Missense_Mutation_p.S262F NM_001077441.1|NM_014739.2 NP_001070909.1|NP_055554.1 Q9NYF8 BCLF1_HUMAN BCL2-associated transcription factor 1 264 induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus DNA binding|protein binding haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1) 9 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331) ATGCTGAATGGAATGTGAATG 0.443000 20 87 0 0 1 0 0 ZDBF2 57683 broad.mit.edu 37 2 207171302 207171302 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:207171302G>A ENST00000374423.3 + 5 2436 c.2050G>A c.(2050-2052)Gaa>Aaa p.E684K NM_020923.1 NP_065974.1 Q9HCK1 ZDBF2_HUMAN zinc finger, DBF-type containing 2 684 nucleic acid binding|zinc ion binding endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 95 TCAAGTAGCCGAAATAGAGCG 0.443000 20 26 0 0 1 0 0 CADPS2 93664 broad.mit.edu 37 7 122091515 122091515 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:122091515C>T ENST00000334010.7 - 14 2625 c.2204G>A c.(2203-2205)gGg>gAg p.G735E CADPS2_ENST00000449022.2_Missense_Mutation_p.G734E|CADPS2_ENST00000412584.2_Missense_Mutation_p.G731E|CADPS2_ENST00000313070.7_Missense_Mutation_p.G731E NM_001167940.1 NP_001161412.1 Q86UW7 CAPS2_HUMAN Ca++-dependent secretion activator 2 734 exocytosis|protein transport cell junction|cytoplasmic vesicle membrane|synapse lipid binding|metal ion binding breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2) 43 TGAAACAGTCCCAATTCCATC 0.274000 7 52 0 0 1 0 0 VANGL1 81839 broad.mit.edu 37 1 116206830 116206830 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:116206830G>A ENST00000355485.2 + 4 1024 c.753G>A c.(751-753)acG>acA p.T251T VANGL1_ENST00000369509.1_Silent_p.T251T|VANGL1_ENST00000310260.3_Silent_p.T251T|VANGL1_ENST00000369510.3_Silent_p.T249T NM_001172411.1|NM_138959.2 NP_001165882.1|NP_620409.1 Q8TAA9 VANG1_HUMAN VANGL planar cell polarity protein 1 251 T -> M. multicellular organismal development integral to membrane protein binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|liver(2)|lung(13)|urinary_tract(1) 27 Lung SC(450;0.211) all_cancers(81;1.24e-06)|all_epithelial(167;1.02e-06)|all_lung(203;7.95e-06)|Lung NSC(69;4.97e-05) Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12) CCATGTTCACGCTGCAGGTGG 0.582000 25 61 0 0 1 0 0 KCNIP4 80333 broad.mit.edu 37 4 20731752 20731752 + Splice_Site SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:20731752C>T ENST00000382148.3 - 8 967 c.630_splice c.e8-1 p.D211_splice KCNIP4_ENST00000359001.5_Splice_Site_p.D174_splice|KCNIP4_ENST00000382150.4_Splice_Site_p.D215_splice|KCNIP4_ENST00000382152.2_Splice_Site_p.D236_splice|PACRGL_ENST00000507634.1_Intron|KCNIP4_ENST00000447367.2_Splice_Site_p.D202_splice|KCNIP4_ENST00000382149.4_5'UTR|KCNIP4_ENST00000509207.1_Splice_Site_p.D174_splice NM_001035003.1 NP_001030175.1 Q6PIL6 KCIP4_HUMAN Kv channel interacting protein 4 236 EF-hand 4. plasma membrane calcium ion binding|potassium channel activity|protein binding|voltage-gated ion channel activity NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1) 13 Breast(46;0.134) ATGTTTTCATCCTGTAAGGGA 0.408000 5 101 0 0 1 0 0 BMPER 168667 broad.mit.edu 37 7 34118725 34118725 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:34118725C>T ENST00000297161.2 + 13 1709 c.1335C>T c.(1333-1335)atC>atT p.I445I BMPER_ENST00000426693.1_Silent_p.I445I NM_133468.4 NP_597725.1 Q8N8U9 BMPER_HUMAN BMP binding endothelial regulator 445 VWFD. blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation extracellular space breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 48 GCTCGCGCATCGCGCTCCCCT 0.657000 54 60 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9002546 9002546 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:9002546C>T ENST00000397910.4 - 51 40473 c.40270G>A c.(40270-40272)Gag>Aag p.E13424K MUC16_ENST00000380951.5_Missense_Mutation_p.E65K NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 13426 SEA 9. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 GGGCCCAGCTCAGTGATGCCG 0.567000 12 397 0 0 1 0 0 ANK1 286 broad.mit.edu 37 8 41566410 41566410 + Silent SNP T T C TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:41566410T>C ENST00000396942.1 - 17 1967 c.1884A>G c.(1882-1884)gcA>gcG p.A628A ANK1_ENST00000379758.2_Silent_p.A628A|ANK1_ENST00000352337.4_Silent_p.A628A|ANK1_ENST00000265709.8_Silent_p.A661A|ANK1_ENST00000396945.1_Silent_p.A628A|ANK1_ENST00000289734.7_Silent_p.A628A|ANK1_ENST00000347528.4_Silent_p.A628A P16157 ANK1_HUMAN ankyrin 1, erythrocytic 628 89 kDa domain. axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 122 Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211) all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188) OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264) ACTCGGCGTTTGCTGAGCCCC 0.607000 76 120 0 0 1 0 0 NOS1 4842 broad.mit.edu 37 12 117672415 117672415 + Nonsense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:117672415G>A ENST00000317775.6 - 21 3875 c.3190C>T c.(3190-3192)Cag>Tag p.Q1064* NOS1_ENST00000344089.3_3'UTR|NOS1_ENST00000338101.4_Nonsense_Mutation_p.Q1098* NM_000620.4|NM_001204218.1 NP_000611.1|NP_001191147.1 P29475 NOS1_HUMAN nitric oxide synthase 1 (neuronal) 1064 FAD-binding FR-type. Q -> R (in dbSNP:rs9658482). multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 117 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) BRCA - Breast invasive adenocarcinoma(302;0.0561) L-Citrulline(DB00155) TTCACCATCTGGTTGACAGGC 0.622000 28 83 0 0 1 0 0 SYT9 143425 broad.mit.edu 37 11 7335142 7335142 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:7335142C>T ENST00000318881.6 + 3 1251 c.1014C>T c.(1012-1014)atC>atT p.I338I SYT9_ENST00000396716.2_Silent_p.I306I NM_175733.3 NP_783860.1 Q86SS6 SYT9_HUMAN synaptotagmin IX 338 cell junction|integral to membrane|synaptic vesicle membrane metal ion binding|transporter activity NS(1)|endometrium(2)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 38 Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949) GGGAGTGCATCCTTTGGAAGG 0.463000 64 61 0 0 1 0 0 RELT 84957 broad.mit.edu 37 11 73102220 73102220 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:73102220C>T ENST00000064780.2 + 5 580 c.319C>T c.(319-321)Cca>Tca p.P107S RELT_ENST00000393580.2_Missense_Mutation_p.P107S NM_152222.1 NP_689408.1 Q969Z4 TR19L_HUMAN RELT tumor necrosis factor receptor 107 cytoplasm|integral to membrane|plasma membrane binding|receptor activity NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1) 12 TCCCCGCGTTCCATGTCAACC 0.597000 73 151 0 0 1 0 0 RBM47 54502 broad.mit.edu 37 4 40440099 40440099 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:40440099G>A ENST00000319592.4 - 4 1521 c.812C>T c.(811-813)cCc>cTc p.P271L RBM47_ENST00000515809.1_Intron|RBM47_ENST00000381795.6_Missense_Mutation_p.P271L|RBM47_ENST00000514014.1_Missense_Mutation_p.P233L|RBM47_ENST00000295971.7_Missense_Mutation_p.P271L|RBM47_ENST00000381793.2_Missense_Mutation_p.P271L A0AV96 RBM47_HUMAN RNA binding motif protein 47 271 RRM 3. nucleus nucleotide binding|RNA binding breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1) 29 CACGCAGCCGGGGTTGAACTG 0.592000 38 79 0 0 1 0 0 FOLH1 2346 broad.mit.edu 37 11 49168415 49168415 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:49168415C>T ENST00000340334.7 - 20 2469 c.2101G>A c.(2101-2103)Gaa>Aaa p.E701K FOLH1_ENST00000256999.2_Missense_Mutation_p.E716K|FOLH1_ENST00000343844.4_Missense_Mutation_p.E408K|FOLH1_ENST00000533034.1_Missense_Mutation_p.E670K|FOLH1_ENST00000356696.3_Missense_Mutation_p.E685K NM_001193471.1|NM_001193472.1 NP_001180400.1|NP_001180401.1 Q04609 FOLH1_HUMAN folate hydrolase (prostate-specific membrane antigen) 1 716 proteolysis cytoplasm|integral to plasma membrane|membrane fraction|nucleus carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 60 Capromab(DB00089)|L-Glutamic Acid(DB00142) ACTTTGCTTTCAATATCAAAC 0.458000 34 108 0 0 1 0 0 CLDN9 9080 broad.mit.edu 37 16 3063854 3063854 + Missense_Mutation SNP T T G TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr16:3063854T>G ENST00000445369.2 + 1 1398 c.491T>G c.(490-492)cTc>cGc p.L164R NM_020982.3 NP_066192.1 O95484 CLD9_HUMAN claudin 9 164 calcium-independent cell-cell adhesion|tight junction assembly integral to membrane|tight junction identical protein binding|structural molecule activity endometrium(2)|large_intestine(1)|lung(5)|prostate(2) 10 GGGGCCTCCCTCTACCTGGGC 0.716000 28 57 0 0 1 0 0 SPANXN2 494119 broad.mit.edu 37 X 142795189 142795189 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chrX:142795189C>T ENST00000370498.1 - 2 1242 c.489G>A c.(487-489)gaG>gaA p.E163E NM_001009615.1 NP_001009615.1 Q5MJ10 SPXN2_HUMAN SPANX family, member N2 163 NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 27 Acute lymphoblastic leukemia(192;6.56e-05) GGTCTTCGTCCTCCTGTGAAG 0.502000 226 96 0 0 1 0 0 SMAD9 4093 broad.mit.edu 37 13 37447009 37447009 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr13:37447009G>A ENST00000379826.4 - 3 798 c.456C>T c.(454-456)ccC>ccT p.P152P SMAD9_ENST00000350148.5_Silent_p.P152P|SMAD9_ENST00000399275.2_Silent_p.P152P NM_001127217.2 NP_001120689.1 O15198 SMAD9_HUMAN SMAD family member 9 152 BMP signaling pathway|transforming growth factor beta receptor signaling pathway cytosol|transcription factor complex sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8) 18 Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184) all cancers(112;3.38e-07)|Epithelial(112;1.93e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00804)|BRCA - Breast invasive adenocarcinoma(63;0.0129)|GBM - Glioblastoma multiforme(144;0.026) GGCTGAGCTGGGGGTTATATT 0.537000 4 69 0 0 1 0 0 PRSS36 146547 broad.mit.edu 37 16 31154767 31154767 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr16:31154767C>T ENST00000268281.4 - 8 1054 c.996G>A c.(994-996)ggG>ggA p.G332G PRSS36_ENST00000418068.2_Silent_p.G332G|PRSS36_ENST00000569305.1_Silent_p.G332G NM_001258290.1|NM_173502.4 NP_001245219.1|NP_775773.2 Q5K4E3 POLS2_HUMAN protease, serine, 36 332 Peptidase S1 2. proteolysis cytoplasm|proteinaceous extracellular matrix serine-type endopeptidase activity kidney(2)|large_intestine(4)|lung(8)|ovary(3) 17 AGGGCCAGGCCCCTGGCCGCG 0.662000 35 81 0 0 1 0 0 TM9SF2 9375 broad.mit.edu 37 13 100204460 100204460 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr13:100204460C>T ENST00000376387.4 + 13 1558 c.1368C>T c.(1366-1368)ctC>ctT p.L456L NM_004800.1 NP_004791.1 Q99805 TM9S2_HUMAN transmembrane 9 superfamily member 2 456 transport endosome membrane|integral to plasma membrane endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(2) 17 all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.218) ATCTGATCCTCTGGGGAGAAG 0.418000 49 66 0 0 1 0 0 ADD2 119 broad.mit.edu 37 2 70903932 70903932 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:70903932C>T ENST00000264436.3 - 13 2033 c.1589G>A c.(1588-1590)aGc>aAc p.S530N ADD2_ENST00000430656.1_Missense_Mutation_p.S546N|ADD2_ENST00000355733.3_Missense_Mutation_p.S530N|ADD2_ENST00000413157.2_Missense_Mutation_p.S530N|ADD2_ENST00000407644.2_Missense_Mutation_p.S530N NM_001617.3 NP_001608.1 P35612 ADDB_HUMAN adducin 2 (beta) 530 actin filament bundle assembly|barbed-end actin filament capping|positive regulation of protein binding cytoplasm|F-actin capping protein complex|plasma membrane actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2) 36 CTCTACCGGGCTTCGGCTCTT 0.607000 39 69 0 0 1 0 0 SLC17A8 246213 broad.mit.edu 37 12 100806614 100806614 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:100806614C>T ENST00000323346.5 + 10 1566 c.1253C>T c.(1252-1254)tCc>tTc p.S418F SLC17A8_ENST00000552697.1_3'UTR|SLC17A8_ENST00000392989.3_Missense_Mutation_p.S368F NM_001145288.1|NM_139319.2 NP_001138760.1|NP_647480.1 Q8NDX2 VGLU3_HUMAN solute carrier family 17 (vesicular glutamate transporter), member 8 418 neurotransmitter transport|sensory perception of sound|sodium ion transport cell junction|integral to membrane|synaptic vesicle membrane|synaptosome L-glutamate transmembrane transporter activity|symporter activity NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 44 GTGGCTATCTCCTTTCTGGTA 0.448000 57 133 0 0 1 0 0 ITSN1 6453 broad.mit.edu 37 21 35183305 35183305 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr21:35183305C>T ENST00000381318.3 + 21 2634 c.2346C>T c.(2344-2346)ccC>ccT p.P782P ITSN1_ENST00000379960.5_Silent_p.P777P|ITSN1_ENST00000437442.2_Silent_p.P777P|AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000399352.1_Silent_p.P777P|ITSN1_ENST00000399349.1_Silent_p.P777P|ITSN1_ENST00000399355.2_Silent_p.P782P|ITSN1_ENST00000399353.1_Silent_p.P740P|ITSN1_ENST00000399367.3_Silent_p.P777P|ITSN1_ENST00000381285.4_Silent_p.P782P|ITSN1_ENST00000399326.3_Silent_p.P777P|ITSN1_ENST00000399338.4_Silent_p.P777P|ITSN1_ENST00000381291.4_Silent_p.P782P NM_003024.2 NP_003015.2 Q15811 ITSN1_HUMAN intersectin 1 (SH3 domain protein) 782 SH3 1. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity p.P782P(1) breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2) 67 CTGGAGAACCCGGCTGGCTTG 0.468000 83 163 0 0 1 0 0 OR5M3 219482 broad.mit.edu 37 11 56237083 56237083 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:56237083C>T ENST00000312240.2 - 1 931 c.891G>A c.(889-891)aaG>aaA p.K297K NM_001004742.2 NP_001004742.2 Q8NGP4 OR5M3_HUMAN olfactory receptor, family 5, subfamily M, member 3 297 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(15)|ovary(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 37 Esophageal squamous(21;0.00448) TCATCATGGCCTTTTTCACAT 0.363000 15 39 0 0 1 0 0 VIT 5212 broad.mit.edu 37 2 37035961 37035961 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:37035961G>A ENST00000379242.3 + 15 2038 c.1736G>A c.(1735-1737)aGg>aAg p.R579K VIT_ENST00000404084.1_Missense_Mutation_p.R516K|VIT_ENST00000379241.3_Missense_Mutation_p.R542K|VIT_ENST00000497382.1_Missense_Mutation_p.R233K|VIT_ENST00000401530.1_Missense_Mutation_p.R543K|VIT_ENST00000389975.3_Missense_Mutation_p.R564K NM_053276.3 NP_444506.2 Q6UXI7 VITRN_HUMAN vitrin 564 VWFA 2. proteinaceous extracellular matrix autonomic_ganglia(1)|breast(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 57 all_hematologic(82;0.248) GCCATCAAGAGGGTGGGCTAC 0.582000 40 57 0 0 1 0 0 DDB1 1642 broad.mit.edu 37 11 61070076 61070076 + Silent SNP G G A rs148129833 byFrequency TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:61070076G>A ENST00000301764.7 - 24 3487 c.3090C>T c.(3088-3090)ttC>ttT p.F1030F DDB1_ENST00000451943.2_Silent_p.F17F|DDB1_ENST00000450997.2_Silent_p.F341F|DDB1_ENST00000538470.1_Silent_p.F77F NM_001923.4 NP_001914.3 Q16531 DDB1_HUMAN damage-specific DNA binding protein 1, 127kDa 1030 Interaction with CDT1 and CUL4A. cell cycle checkpoint|interspecies interaction between organisms|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|cytoplasm|nucleoplasm damaged DNA binding|protein binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 48 TGACCGTGCCGAAGAGCACCG 0.572000 Nucleotide excision repair (NER) 82 181 0 0 1 0 0 KIAA1217 56243 broad.mit.edu 37 10 24825769 24825769 + Missense_Mutation SNP A A C TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:24825769A>C ENST00000376451.2 + 12 2790 c.2530A>C c.(2530-2532)Agt>Cgt p.S844R KIAA1217_ENST00000307544.6_Missense_Mutation_p.S844R|KIAA1217_ENST00000396446.1_Intron|KIAA1217_ENST00000376452.3_Missense_Mutation_p.S1125R|KIAA1217_ENST00000396445.1_Missense_Mutation_p.S844R|KIAA1217_ENST00000376462.1_Intron|KIAA1217_ENST00000458595.1_Missense_Mutation_p.S1126R|KIAA1217_ENST00000376454.3_Missense_Mutation_p.S1161R Q5T5P2 SKT_HUMAN KIAA1217 1161 embryonic skeletal system development cytoplasm breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1) 70 CCGGGCTGACAGTCACGTTAA 0.488000 55 101 0 0 1 0 0 MACC1 346389 broad.mit.edu 37 7 20198078 20198078 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:20198078G>A ENST00000400331.5 - 5 2214 c.1906C>T c.(1906-1908)Ctt>Ttt p.L636F MACC1_ENST00000332878.4_Missense_Mutation_p.L636F|MACC1_ENST00000589011.1_Missense_Mutation_p.L636F NM_182762.3 NP_877439.3 Q6ZN28 MACC1_HUMAN metastasis associated in colon cancer 1 636 positive regulation of cell division|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus|plasma membrane growth factor activity endometrium(1)|kidney(1)|large_intestine(15)|lung(12)|ovary(2)|prostate(1)|skin(3)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(1) 39 ATCTGTTCAAGAAGATTTCTG 0.338000 40 112 0 0 1 0 0 CLDN10 9071 broad.mit.edu 37 13 96086093 96086093 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr13:96086093C>T ENST00000376873.3 + 1 236 c.6C>T c.(4-6)tcC>tcT p.S2S NM_001160100.1|NM_182848.3 NP_001153572.1|NP_878268.1 P78369 CLD10_HUMAN claudin 10 0 calcium-independent cell-cell adhesion integral to membrane|tight junction identical protein binding|structural molecule activity endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1) 15 all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163) BRCA - Breast invasive adenocarcinoma(86;0.18) GCGACATGTCCAGGGCGCAGA 0.587000 22 25 0 0 1 0 0 EPPK1 83481 broad.mit.edu 37 8 144945877 144945877 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:144945877G>A ENST00000525985.1 - 2 1616 c.1545C>T c.(1543-1545)ttC>ttT p.F515F P58107 EPIPL_HUMAN epiplakin 1 515 cytoplasm|cytoskeleton protein binding|structural molecule activity NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) TGGCCTCAGAGAAGAGCAGCT 0.657000 21 22 0 0 1 0 0 MDGA1 266727 broad.mit.edu 37 6 37606007 37606007 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:37606007G>A ENST00000434837.2 - 16 3928 c.2750C>T c.(2749-2751)cCc>cTc p.P917L MDGA1_ENST00000297153.7_Missense_Mutation_p.P921L|MDGA1_ENST00000505425.1_Missense_Mutation_p.P917L NM_153487.3 NP_705691.1 Q8NFP4 MDGA1_HUMAN MAM domain containing glycosylphosphatidylinositol anchor 1 917 MAM. brain development|neuron migration|spinal cord association neuron differentiation anchored to plasma membrane central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(1) 38 CTGCTTCCGGGGACACTCCCC 0.582000 35 91 0 0 1 0 0 STAB2 55576 broad.mit.edu 37 12 104014258 104014258 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:104014258G>A ENST00000388887.2 + 4 548 c.344G>A c.(343-345)gGa>gAa p.G115E NM_017564.9 NP_060034.9 Q8WWQ8 STAB2_HUMAN stabilin 2 115 EGF-like 1. angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis cytoplasm|external side of plasma membrane|integral to plasma membrane Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2) 174 TGCCCAGGTGGAGCGGGGTCA 0.488000 4 12 0 0 1 0 0 ZP1 22917 broad.mit.edu 37 11 60637362 60637362 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:60637362G>A ENST00000278853.5 + 3 671 c.671G>A c.(670-672)cGa>cAa p.R224Q NM_207341.2 NP_997224.2 P60852 ZP1_HUMAN zona pellucida glycoprotein 1 (sperm receptor) 224 single fertilization integral to membrane|plasma membrane|proteinaceous extracellular matrix breast(3)|endometrium(2)|large_intestine(8)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 26 GTGAACAAACGAGATTACATA 0.562000 21 56 0 0 1 0 0 PRAMEF4 400735 broad.mit.edu 37 1 12943132 12943132 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:12943132G>A ENST00000235349.5 - 2 154 c.84C>T c.(82-84)tcC>tcT p.S28S NM_001009611.2 NP_001009611.1 O60810 PRAM4_HUMAN PRAME family member 4 28 breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(3)|skin(1) 24 Ovarian(185;0.249) Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) CCTCCAGGGTGGACATGGCCA 0.587000 97 95 0 0 1 0 0 RCAN2 10231 broad.mit.edu 37 6 46214542 46214542 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:46214542C>T ENST00000371374.1 - 4 705 c.514G>A c.(514-516)Gat>Aat p.D172N RCAN2_ENST00000306764.7_Missense_Mutation_p.D172N|RCAN2_ENST00000330430.6_Missense_Mutation_p.D126N|RCAN2_ENST00000405162.1_Missense_Mutation_p.D172N NM_001251974.1 NP_001238903.1 Q14206 RCAN2_HUMAN regulator of calcineurin 2 126 calcium-mediated signaling|central nervous system development nucleotide binding|protein phosphatase 2B binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 8 GGCGTGGCATCGTTGATGGGC 0.527000 24 77 0 0 1 0 0 KRTAP13-1 140258 broad.mit.edu 37 21 31768652 31768652 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr21:31768652C>T ENST00000355459.2 + 1 261 c.248C>T c.(247-249)cCc>cTc p.P83L NM_181599.2 NP_853630.2 Q8IUC0 KR131_HUMAN keratin associated protein 13-1 83 5 X 10 AA approximate repeats. intermediate filament endometrium(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 TGCTACCGTCCCAGAACCTCC 0.607000 25 82 0 0 1 0 0 RAI2 10742 broad.mit.edu 37 X 17818724 17818724 + Silent SNP T T C TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chrX:17818724T>C ENST00000545871.1 - 3 1867 c.1407A>G c.(1405-1407)aaA>aaG p.K469K RAI2_ENST00000331511.1_Silent_p.K469K|RAI2_ENST00000415486.3_Silent_p.K419K|RAI2_ENST00000360011.1_Silent_p.K469K|RAI2_ENST00000451717.1_Silent_p.K469K NM_001172739.1|NM_001172743.1 NP_001166210.1|NP_001166214.1 Q9Y5P3 RAI2_HUMAN retinoic acid induced 2 469 embryo development breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1) 22 Hepatocellular(33;0.183) AGTCTTCTCTTTTGAAGGAGA 0.507000 7 533 0 0 1 0 0 SIRPD 128646 broad.mit.edu 37 20 1538283 1538283 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr20:1538283G>A ENST00000381623.3 - 1 1206 c.17C>T c.(16-18)tCc>tTc p.S6F SIRPD_ENST00000381621.1_Missense_Mutation_p.S6F|RP4-576H24.4_ENST00000564763.1_Intron Q9H106 SIRPD_HUMAN signal-regulatory protein delta 6 extracellular region breast(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1) 15 GTGGAGTGGGGAGGCAGGGAT 0.577000 7 89 0 0 1 0 0 AIFM2 84883 broad.mit.edu 37 10 71883673 71883673 + Silent SNP G G T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:71883673G>T ENST00000307864.1 - 2 381 c.168C>A c.(166-168)tcC>tcA p.S56S AIFM2_ENST00000373248.1_Silent_p.S56S NM_001198696.1|NM_032797.5 NP_001185625.1|NP_116186.1 Q9BRQ8 AIFM2_HUMAN apoptosis-inducing factor, mitochondrion-associated, 2 56 apoptotic mitochondrial changes|chromosome condensation|induction of apoptosis cytosol|integral to membrane|mitochondrial outer membrane DNA binding|electron-transferring-flavoprotein dehydrogenase activity|flavin adenine dinucleotide binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|urinary_tract(2) 16 CTGTCTCCACGGAGGCTCGGA 0.602000 16 45 1.5739e-10 1.58371e-10 1 1 0 DNAH9 1770 broad.mit.edu 37 17 11622741 11622741 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:11622741G>A ENST00000262442.3 + 27 5711 c.5643G>A c.(5641-5643)aaG>aaA p.K1881K DNAH9_ENST00000454412.2_Silent_p.K1881K NM_001372.3 NP_001363.2 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 1881 AAA 1 (By similarity). cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4) 290 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) AGACCACCAAGGACCTGGGCC 0.617000 29 72 0 0 1 0 0 EGFLAM 133584 broad.mit.edu 37 5 38435241 38435241 + Silent SNP A A C TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:38435241A>C ENST00000322350.5 + 16 2515 c.2169A>C c.(2167-2169)ggA>ggC p.G723G EGFLAM_ENST00000336740.6_Silent_p.G489G|EGFLAM_ENST00000354891.3_Silent_p.G723G|EGFLAM_ENST00000397202.2_Silent_p.G89G NM_152403.3 NP_689616.2 Q63HQ2 EGFLA_HUMAN EGF-like, fibronectin type III and laminin G domains 723 Laminin G-like 2. cell junction|proteinaceous extracellular matrix|synapse NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 85 all_lung(31;0.000385) TTTGGCAGGGAGGCTTCACAC 0.408000 11 186 0 0 1 0 0 ADAMTS3 9508 broad.mit.edu 37 4 73414311 73414311 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:73414311C>T ENST00000286657.4 - 3 424 c.388G>A c.(388-390)Gga>Aga p.G130R ADAMTS3_ENST00000505193.1_5'UTR NM_014243.2 NP_055058.2 O15072 ATS3_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 3 130 collagen catabolic process|collagen fibril organization|proteolysis proteinaceous extracellular matrix heparin binding|metalloendopeptidase activity|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 76 Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) GTAGCACTTCCTGGTTGATGG 0.498000 5 215 0 0 1 0 0 C6orf165 154313 broad.mit.edu 37 6 88170883 88170883 + Splice_Site SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:88170883G>A ENST00000507897.1 + 12 1721 c.1638_splice c.e12+1 p.L546_splice C6ORF165_ENST00000369562.4_Splice_Site_p.L546_splice|C6orf165_ENST00000506888.1_3'UTR Q8IYR0 CF165_HUMAN chromosome 6 open reading frame 165 546 NS(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575) BRCA - Breast invasive adenocarcinoma(108;0.0419) CTATAAAATTGGTTTGTAACA 0.289000 45 18 0 0 1 0 0 CCDC27 148870 broad.mit.edu 37 1 3679741 3679741 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:3679741G>A ENST00000294600.2 + 7 1108 c.1024G>A c.(1024-1026)Ggc>Agc p.G342S NM_152492.2 NP_689705.2 Q2M243 CCD27_HUMAN coiled-coil domain containing 27 342 Glu-rich. breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(2)|lung(17)|prostate(1)|skin(2)|urinary_tract(2) 36 all_cancers(77;0.0385)|Ovarian(185;0.0634)|Lung NSC(156;0.21)|all_lung(157;0.218) all_epithelial(116;5.52e-17)|all_lung(118;1.04e-06)|Lung NSC(185;0.000214)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Lung SC(97;0.0367)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127) Epithelial(90;1.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.35e-22)|GBM - Glioblastoma multiforme(42;3.46e-16)|Colorectal(212;1.17e-05)|COAD - Colon adenocarcinoma(227;5.76e-05)|Kidney(185;0.00036)|BRCA - Breast invasive adenocarcinoma(365;0.000696)|KIRC - Kidney renal clear cell carcinoma(229;0.00558)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203) GGAGGACGAGGGCCTGGAAGG 0.672000 4 11 0 0 1 0 0 TLR4 7099 broad.mit.edu 37 9 120470848 120470848 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:120470848C>T ENST00000355622.6 + 2 202 c.101C>T c.(100-102)cCt>cTt p.P34L TLR4_ENST00000472304.1_Intron|TLR4_ENST00000394487.4_5'UTR NM_138554.4|NM_138557.2 NP_612564.1|NP_612567.1 O00206 TLR4_HUMAN toll-like receptor 4 34 activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm lipopolysaccharide receptor activity|transmembrane receptor activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1) 103 CAGGTGGTTCCTAATATTACT 0.468000 37 90 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179594622 179594622 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:179594622C>T ENST00000589042.1 - 63 18582 c.18358G>A c.(18358-18360)Gga>Aga p.G6120R TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.G5803R|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G4876R|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 5803 Ig-like 42. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GTTGACTGTCCATTCCTCAGC 0.383000 14 30 0 0 1 0 0 DIDO1 11083 broad.mit.edu 37 20 61526505 61526505 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr20:61526505G>A ENST00000266070.4 - 9 2552 c.2227C>T c.(2227-2229)Cgt>Tgt p.R743C DIDO1_ENST00000395335.2_Missense_Mutation_p.R743C|DIDO1_ENST00000395343.1_Missense_Mutation_p.R743C|DIDO1_ENST00000395340.1_Missense_Mutation_p.R743C NM_033081.2 NP_149072.2 Q9BTC0 DIDO1_HUMAN death inducer-obliterator 1 743 TFIIS central. apoptosis|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1) 99 Breast(26;5.68e-08) CGCAGAACACGATGGAAGAGT 0.418000 110 227 0 0 1 0 0 TCF4 6925 broad.mit.edu 37 18 53131334 53131334 + Silent SNP C C T rs151203913 TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr18:53131334C>T ENST00000354452.3 - 4 791 c.180G>A c.(178-180)ggG>ggA p.G60G TCF4_ENST00000567880.1_Silent_p.G60G|TCF4_ENST00000565018.2_Silent_p.G60G|TCF4_ENST00000564403.2_Silent_p.G60G|TCF4_ENST00000537578.1_Silent_p.G36G|TCF4_ENST00000568740.1_Silent_p.G36G|TCF4_ENST00000540999.1_Silent_p.G36G|TCF4_ENST00000356073.4_Silent_p.G60G|TCF4_ENST00000568673.1_Silent_p.G36G|TCF4_ENST00000564999.1_Silent_p.G60G|TCF4_ENST00000566279.1_Silent_p.G60G|TCF4_ENST00000543082.1_Silent_p.G18G|TCF4_ENST00000398339.1_Silent_p.G162G|TCF4_ENST00000566286.1_Silent_p.G58G|RP11-619L19.1_ENST00000587660.1_RNA NM_001083962.1 NP_001077431.1 P15884 ITF2_HUMAN transcription factor 4 60 Essential for MYOD1 inhibition (By similarity). positive regulation of neuron differentiation|protein-DNA complex assembly|transcription initiation from RNA polymerase II promoter transcription factor complex E-box binding|protein C-terminus binding|protein heterodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding RNA polymerase recruiting transcription factor activity|TFIIB-class binding transcription factor activity|TFIIB-class transcription factor binding breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1) 41 Colorectal(16;0.00108)|READ - Rectum adenocarcinoma(59;0.0649)|COAD - Colon adenocarcinoma(17;0.0718) GTCCTCCATTCCCCCAGGACC 0.408000 62 171 0 0 1 0 0 RPS6KA1 6195 broad.mit.edu 37 1 26872489 26872489 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:26872489C>T ENST00000531382.1 + 1 147 c.98C>T c.(97-99)cCt>cTt p.P33L RPS6KA1_ENST00000526792.1_Intron|RPS6KA1_ENST00000374168.2_Intron|RPS6KA1_ENST00000374162.2_Intron|RPS6KA1_ENST00000530003.1_Intron|RPS6KA1_ENST00000374166.4_Intron NM_001006665.1 NP_001006666.1 Q15418 KS6A1_HUMAN ribosomal protein S6 kinase, 90kDa, polypeptide 1 26 axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm ATP binding|caspase inhibitor activity|magnesium ion binding|protein binding|protein serine/threonine kinase activity lung(1) 1 all_cancers(24;2.49e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00571)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.12e-50)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-29)|Colorectal(126;1.4e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000537)|KIRC - Kidney renal clear cell carcinoma(1967;0.000759)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0361)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.161)|LUSC - Lung squamous cell carcinoma(448;0.234) ACCTCTCTGCCTGTCCCTGGC 0.682000 10 21 0 0 1 0 0 SIGLEC10 89790 broad.mit.edu 37 19 51919960 51919960 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:51919960C>T ENST00000353836.5 - 3 887 c.666G>A c.(664-666)aaG>aaA p.K222K SIGLEC10_ENST00000432469.2_Intron|SIGLEC10_ENST00000439889.2_Silent_p.K164K|SIGLEC10_ENST00000339313.5_Silent_p.K222K|SIGLEC10_ENST00000441969.3_Silent_p.K164K|SIGLEC10_ENST00000442846.3_Silent_p.K164K|SIGLEC10_ENST00000356298.5_Silent_p.K222K|SIGLEC10_ENST00000436984.2_Silent_p.K174K|SIGLEC10_ENST00000525998.1_Silent_p.K222K|CTD-2616J11.2_ENST00000532688.1_RNA NM_001171157.1|NM_001171158.1|NM_001171159.1 NP_001164628.1|NP_001164629.1|NP_001164630.1 Q96LC7 SIG10_HUMAN sialic acid binding Ig-like lectin 10 222 Ig-like C2-type 1. cell adhesion extracellular region|integral to membrane|plasma membrane sugar binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(27)|ovary(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101) CGCTCACACCCTTTCTGGAGA 0.637000 9 47 0 0 1 0 0 ABCF3 55324 broad.mit.edu 37 3 183906051 183906051 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:183906051C>T ENST00000429586.2 + 7 877 c.692C>T c.(691-693)cCa>cTa p.P231L EIF2B5_ENST00000444495.1_Intron|ABCF3_ENST00000292808.5_Missense_Mutation_p.P225L NM_018358.2 NP_060828.2 Q9NUQ8 ABCF3_HUMAN ATP-binding cassette, sub-family F (GCN20), member 3 231 ABC transporter 1. P -> S (in Ref. 1; BAC03881). ATP binding|ATPase activity p.P231Q(1) breast(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(20)|ovary(3)|prostate(5)|upper_aerodigestive_tract(1) 39 all_cancers(143;1.12e-10)|Ovarian(172;0.0339) Epithelial(37;2.35e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) CTGCGGGTTCCAGCCCACATT 0.602000 62 115 0 0 1 0 0 PPP2R2C 5522 broad.mit.edu 37 4 6377607 6377607 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:6377607C>T ENST00000335585.5 - 4 409 c.386G>A c.(385-387)gGa>gAa p.G129E PPP2R2C_ENST00000382599.4_Missense_Mutation_p.G129E|PPP2R2C_ENST00000314348.8_5'UTR|PPP2R2C_ENST00000515571.1_Missense_Mutation_p.G112E|PPP2R2C_ENST00000506140.1_Missense_Mutation_p.G122E|PPP2R2C_ENST00000507294.1_Missense_Mutation_p.G122E NM_181876.2 NP_870991.1 Q9Y2T4 2ABG_HUMAN protein phosphatase 2, regulatory subunit B, gamma 129 signal transduction protein phosphatase type 2A complex protein phosphatase type 2A regulator activity central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1) 28 CAGGTTGTATCCTTCGGGCCT 0.458000 76 184 0 0 1 0 0 PDGFC 56034 broad.mit.edu 37 4 157771443 157771443 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:157771443C>T ENST00000502773.1 - 2 734 c.244G>A c.(244-246)Gaa>Aaa p.E82K PDGFC_ENST00000422544.2_Missense_Mutation_p.E82K|PDGFC_ENST00000541126.1_Intron NM_016205.2 NP_057289.1 Q9NRA1 PDGFC_HUMAN platelet derived growth factor C 82 CUB. central nervous system development|platelet-derived growth factor receptor signaling pathway|positive regulation of cell division|positive regulation of DNA replication|positive regulation of fibroblast proliferation|vascular endothelial growth factor receptor signaling pathway endoplasmic reticulum lumen|extracellular space|Golgi membrane|nucleus cell surface binding|growth factor activity|platelet-derived growth factor receptor binding|protein homodimerization activity central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 19 all_hematologic(180;0.24) Renal(120;0.0458) KIRC - Kidney renal clear cell carcinoma(143;0.08)|Kidney(143;0.0977)|COAD - Colon adenocarcinoma(41;0.212) CATACATTTTCCTCTACTGCT 0.368000 21 58 0 0 1 0 0 TRIM29 23650 broad.mit.edu 37 11 119998203 119998203 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:119998203C>T ENST00000341846.5 - 3 1396 c.975G>A c.(973-975)aaG>aaA p.K325K TRIM29_ENST00000529044.1_Silent_p.K64K|TRIM29_ENST00000541857.1_Silent_p.K58K NM_012101.3 NP_036233.2 Q14134 TRI29_HUMAN tripartite motif containing 29 325 transcription from RNA polymerase II promoter cytoplasm protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1) 30 Breast(109;0.00117)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;5.37e-06) TCACTTCCTCCTTTTGCTTCT 0.582000 50 61 0 0 1 0 0 MTPAP 55149 broad.mit.edu 37 10 30653873 30653873 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:30653873G>A ENST00000358107.4 - 2 308 c.309C>T c.(307-309)ctC>ctT p.L103L MTPAP_ENST00000488290.1_5'UTR Q9NVV4 PAPD1_HUMAN mitochondrial poly(A) polymerase 0 cell death|histone mRNA catabolic process|mRNA polyadenylation|transcription, DNA-dependent mitochondrion ATP binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity|protein homodimerization activity|RNA binding|UTP binding breast(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 33 cacccccacAGAGGTGCTGCA 0.657000 10 18 0 0 1 0 0 TRIM15 89870 broad.mit.edu 37 6 30138755 30138755 + Missense_Mutation SNP A A C TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:30138755A>C ENST00000376694.4 + 6 1319 c.850A>C c.(850-852)Aac>Cac p.N284H TRIM15_ENST00000376688.1_Intron NM_033229.2 NP_150232.2 Q9C019 TRI15_HUMAN tripartite motif containing 15 284 B30.2/SPRY. mesodermal cell fate determination intracellular zinc ion binding large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(1) 14 TCCCTCAGAAAACTTGGCGCA 0.438000 5 250 0 0 1 0 0 TM6SF2 53345 broad.mit.edu 37 19 19378874 19378874 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:19378874C>T ENST00000389363.4 - 7 704 c.632G>A c.(631-633)gGa>gAa p.G211E AC138430.4_ENST00000586064.2_RNA NM_001001524.2 NP_001001524.2 Q9BZW4 TM6S2_HUMAN transmembrane 6 superfamily member 2 211 integral to membrane breast(2)|kidney(1)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1) 14 Epithelial(12;0.0151) CTGCAGGAGTCCCTTTCTTTG 0.527000 11 45 0 0 1 0 0 SCAND3 114821 broad.mit.edu 37 6 28540176 28540176 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:28540176C>T ENST00000452236.2 - 4 4107 c.3490G>A c.(3490-3492)Gaa>Aaa p.E1164K NM_052923.1 NP_443155.1 Q6R2W3 SCND3_HUMAN SCAN domain containing 3 1164 DNA integration|viral reproduction nucleus DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3) 71 ttacctacttcattgataatt 0.279000 53 45 0 0 1 0 0 ZNF792 126375 broad.mit.edu 37 19 35449757 35449757 + Silent SNP A A T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:35449757A>T ENST00000404801.1 - 4 1388 c.1002T>A c.(1000-1002)ggT>ggA p.G334G ZNF792_ENST00000605484.1_Silent_p.G267G NM_175872.4 NP_787068.3 Q3KQV3 ZN792_HUMAN zinc finger protein 792 334 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5) 12 all_lung(56;4.18e-08)|Lung NSC(56;6.62e-08)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0849) GAGGGCTTTCACCGGTGTGAA 0.473000 22 40 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9059068 9059068 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:9059068G>A ENST00000397910.4 - 3 28581 c.28378C>T c.(28378-28380)Cct>Tct p.P9460S NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 9462 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 ACAGGGACAGGAGAGGAGTGG 0.473000 47 110 0 0 1 0 0 MYH7 4625 broad.mit.edu 37 14 23898456 23898456 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr14:23898456C>T ENST00000355349.3 - 13 1401 c.1239G>A c.(1237-1239)aaG>aaA p.K413K NM_000257.2 NP_000248.2 P12883 MYH7_HUMAN myosin, heavy chain 7, cardiac muscle, beta 413 Myosin head-like. adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 137 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00725) CATTCTGCCCCTTGGTGACGT 0.562000 54 152 0 0 1 0 0 ABCB1 5243 broad.mit.edu 37 7 87179314 87179314 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:87179314G>A ENST00000265724.3 - 14 1824 c.1407C>T c.(1405-1407)atC>atT p.I469I ABCB1_ENST00000543898.1_Silent_p.I405I NM_000927.4 NP_000918.2 P08183 MDR1_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 1 469 ABC transporter 1. G2/M transition of mitotic cell cycle|stem cell proliferation apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction ATP binding|protein binding|xenobiotic-transporting ATPase activity NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1) 111 Esophageal squamous(14;0.00164) Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570) CCACACCAATGATTTCCCGTA 0.398000 73 146 0 0 1 0 0 CACNA1S 779 broad.mit.edu 37 1 201046198 201046198 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:201046198G>A ENST00000362061.3 - 12 1903 c.1677C>T c.(1675-1677)atC>atT p.I559I CACNA1S_ENST00000367338.3_Silent_p.I559I NM_000069.2 NP_000060.2 Q13698 CAC1S_HUMAN calcium channel, voltage-dependent, L type, alpha 1S subunit 559 axon guidance I band|T-tubule|voltage-gated calcium channel complex high voltage-gated calcium channel activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 102 Magnesium Sulfate(DB00653)|Verapamil(DB00661) GCAGGGAGGCGATGGAGCGGA 0.567000 11 134 0 0 1 0 0 BZRAP1 9256 broad.mit.edu 37 17 56382463 56382463 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:56382463C>T ENST00000355701.3 - 30 6373 c.5503G>A c.(5503-5505)Ggc>Agc p.G1835S BZRAP1_ENST00000343736.4_Missense_Mutation_p.G1835S|BZRAP1_ENST00000268893.6_Missense_Mutation_p.G1775S NM_001261835.1|NM_004758.3 NP_001248764.1|NP_004749.2 O95153 RIMB1_HUMAN benzodiazapine receptor (peripheral) associated protein 1 1835 mitochondrion benzodiazepine receptor binding cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 54 Medulloblastoma(34;0.127)|all_neural(34;0.237) CTGTCCAGGCCGCCTGCCTCA 0.627000 29 99 0 0 1 0 0 TRIM27 5987 broad.mit.edu 37 6 28871932 28871932 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:28871932G>A ENST00000377199.3 - 8 1813 c.1457C>T c.(1456-1458)cCt>cTt p.P486L TRIM27_ENST00000377194.3_3'UTR NM_006510.4 NP_006501.1 P14373 TRI27_HUMAN tripartite motif containing 27 486 B30.2/SPRY. cell proliferation|negative regulation of gene expression, epigenetic|negative regulation of transcription from RNA polymerase II promoter|protein trimerization|spermatogenesis|transcription, DNA-dependent cytoplasm|integral to plasma membrane|membrane fraction|nuclear membrane|PML body DNA binding|protein binding|transmembrane receptor protein tyrosine kinase activity|zinc ion binding endometrium(1)|large_intestine(2)|lung(6)|ovary(1) 10 GATGATCAGAGGAGCTGCACT 0.522000 T RET papillary thyroid 42 219 0 0 1 0 0 PEG3 5178 broad.mit.edu 37 19 57325393 57325393 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:57325393C>T ENST00000326441.9 - 10 4780 c.4417G>A c.(4417-4419)Gaa>Aaa p.E1473K ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000601070.1_Intron|PEG3_ENST00000593695.1_Missense_Mutation_p.E1347K|PEG3_ENST00000598410.1_Missense_Mutation_p.E1349K|PEG3_ENST00000423103.2_Missense_Mutation_p.E1473K|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000593711.1_Intron NM_006210.2 NP_006201.1 Q9GZU2 PEG3_HUMAN paternally expressed 3 1473 Glu-rich. apoptosis|viral reproduction cytoplasm|nucleus nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6) 170 Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0269) TCTGGCTCTTCAGCTTTTCCC 0.507000 83 146 0 0 1 0 0 PROX2 283571 broad.mit.edu 37 14 75323564 75323564 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr14:75323564G>A ENST00000556084.2 - 2 866 c.867C>T c.(865-867)ctC>ctT p.L289L PROX2_ENST00000556489.2_Silent_p.L516L|PROX2_ENST00000445876.1_Silent_p.L516L NM_001080408.2 NP_001073877.2 Q3B8N5 PROX2_HUMAN prospero homeobox 2 516 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding kidney(1)|large_intestine(2)|lung(3) 6 KIRC - Kidney renal clear cell carcinoma(43;0.238) BRCA - Breast invasive adenocarcinoma(234;0.00652) CTGAATTGCGGAGAACCACCA 0.423000 18 144 0 0 1 0 0 SHC3 53358 broad.mit.edu 37 9 91667027 91667027 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:91667027G>A ENST00000375835.4 - 7 1193 c.887C>T c.(886-888)tCc>tTc p.S296F SHC3_ENST00000375830.1_5'UTR NM_016848.5 NP_058544.3 Q92529 SHC3_HUMAN SHC (Src homology 2 domain containing) transforming protein 3 296 PID. central nervous system development|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction cytosol protein binding|signal transducer activity breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|skin(3) 28 TTGTCCGATGGAGCCGATGAC 0.502000 15 60 0 0 1 0 0 HBS1L 10767 broad.mit.edu 37 6 135308833 135308833 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:135308833G>A ENST00000367837.5 - 9 1386 c.1180C>T c.(1180-1182)Cgt>Tgt p.R394C HBS1L_ENST00000527578.1_Missense_Mutation_p.R230C|HBS1L_ENST00000367824.4_Missense_Mutation_p.R230C|HBS1L_ENST00000445176.2_Missense_Mutation_p.R118C|HBS1L_ENST00000367826.2_Missense_Mutation_p.R352C|HBS1L_ENST00000415177.2_Missense_Mutation_p.R329C NM_001145158.1|NM_006620.3 NP_001138630.1|NP_006611.1 Q9Y450 HBS1L_HUMAN HBS1-like (S. cerevisiae) 394 signal transduction GTP binding|GTPase activity|translation elongation factor activity NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(3) 20 Colorectal(23;0.221) OV - Ovarian serous cystadenocarcinoma(155;0.0046)|GBM - Glioblastoma multiforme(68;0.00702) CCCAGAGAACGGACCAAGAGT 0.438000 37 91 0 0 1 0 0 CCDC141 285025 broad.mit.edu 37 2 179702337 179702337 + Silent SNP C C T rs113840365 TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:179702337C>T ENST00000420890.2 - 23 3726 c.3609G>A c.(3607-3609)ggG>ggA p.G1203G CCDC141_ENST00000480419.1_5'UTR|CCDC141_ENST00000295723.5_Silent_p.G628G NM_173648.3 NP_775919.3 Q6ZP82 CC141_HUMAN coiled-coil domain containing 141 628 protein binding NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1) 78 OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147) CATATTCTTCCCCTGAGAGCA 0.562000 35 81 0 0 1 0 0 PAPLN 89932 broad.mit.edu 37 14 73730953 73730953 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr14:73730953C>T ENST00000427855.1 + 21 2998 c.2896C>T c.(2896-2898)Cac>Tac p.H966Y PAPLN_ENST00000554314.1_Intron|PAPLN_ENST00000554301.1_Missense_Mutation_p.H966Y|PAPLN_ENST00000340738.5_Missense_Mutation_p.H939Y|PAPLN_ENST00000381166.3_Missense_Mutation_p.H966Y|PAPLN_ENST00000555445.1_Missense_Mutation_p.H950Y O95428 PPN_HUMAN papilin, proteoglycan-like sulfated glycoprotein 966 Ig-like C2-type 1. proteinaceous extracellular matrix metalloendopeptidase activity|serine-type endopeptidase inhibitor activity|zinc ion binding NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(3) 42 BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468) CCTGATCATCCACCCCCTGCA 0.632000 30 103 0 0 1 0 0 C1QTNF9B 387911 broad.mit.edu 37 13 24466084 24466084 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr13:24466084C>T ENST00000382137.3 - 3 414 c.346G>A c.(346-348)Gga>Aga p.G116R C1QTNF9B_ENST00000382057.3_Intron|C1QTNF9B-AS1_ENST00000382133.4_RNA|C1QTNF9B_ENST00000382140.2_Missense_Mutation_p.G116R|C1QTNF9B-AS1_ENST00000435039.2_RNA|C1QTNF9B_ENST00000556521.1_Intron|C1QTNF9B-AS1_ENST00000417034.1_RNA|C1QTNF9B_ENST00000382145.1_Intron NM_001007537.1 NP_001007538.1 B2RNN3 C1T9B_HUMAN C1q and tumor necrosis factor related protein 9B 116 Collagen-like 2. collagen breast(1)|central_nervous_system(1)|large_intestine(3)|lung(1) 6 CCAGTCTCTCCTCGGAGGCCT 0.602000 32 126 0 0 1 0 0 NLRC3 197358 broad.mit.edu 37 16 3591761 3591761 + RNA SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr16:3591761C>T ENST00000301749.7 - 0 3667 NLRC3_ENST00000359128.5_RNA|NLRC3_ENST00000448023.2_RNA|NLRC3_ENST00000419350.2_RNA NM_178844.2 NP_849172.2 Q7RTR2 NLRC3_HUMAN NLR family, CARD domain containing 3 I-kappaB kinase/NF-kappaB cascade|negative regulation of NF-kappaB transcription factor activity|T cell activation cytoplasm ATP binding breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 CCCCAGAAGTCGGCCTTTCTG 0.592000 4 2 0 0 1 0 0 FREM1 158326 broad.mit.edu 37 9 14776062 14776062 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:14776062C>T ENST00000380881.4 - 26 5400 c.4585G>A c.(4585-4587)Gac>Aac p.D1529N FREM1_ENST00000422223.2_Missense_Mutation_p.D1528N|FREM1_ENST00000380894.1_Missense_Mutation_p.D64N|FREM1_ENST00000380880.3_Missense_Mutation_p.D1528N Q5H8C1 FREM1_HUMAN FRAS1 related extracellular matrix 1 1528 cell communication|multicellular organismal development basement membrane|integral to membrane metal ion binding|sugar binding breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 GBM - Glioblastoma multiforme(50;3.53e-06) TGAAGGAGGTCAGGGGAAAGC 0.607000 59 61 0 0 1 0 0 KCND3 3752 broad.mit.edu 37 1 112525108 112525108 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:112525108C>T ENST00000369697.1 - 1 310 c.241G>A c.(241-243)Gag>Aag p.E81K KCND3_ENST00000315987.2_Missense_Mutation_p.E81K|KCND3_ENST00000302127.4_Missense_Mutation_p.E81K Q9UK17 KCND3_HUMAN potassium voltage-gated channel, Shal-related subfamily, member 3 81 sarcolemma|voltage-gated potassium channel complex A-type (transient outward) potassium channel activity|metal ion binding NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 49 all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05) all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231) AAGAAGTACTCCTTGGTGTCC 0.622000 31 109 0 0 1 0 0 TNXB 7148 broad.mit.edu 37 6 32056701 32056701 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:32056701C>T ENST00000375244.3 - 6 2841 c.2640G>A c.(2638-2640)caG>caA p.Q880Q TNXB_ENST00000375247.2_Silent_p.Q880Q P22105 TENX_HUMAN tenascin XB 832 actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction extracellular space|intracellular|proteinaceous extracellular matrix heparin binding|integrin binding endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1) 8 GCCTCACCCTCTGGTTGCCGG 0.627000 3 25 0 0 1 0 0 TLR5 7100 broad.mit.edu 37 1 223285242 223285242 + Nonsense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:223285242G>A ENST00000540964.1 - 4 1593 c.1132C>T c.(1132-1134)Caa>Taa p.Q378* TLR5_ENST00000342210.6_Nonsense_Mutation_p.Q378* O60602 TLR5_HUMAN toll-like receptor 5 378 cellular response to mechanical stimulus|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of toll-like receptor signaling pathway integral to membrane|plasma membrane interleukin-1 receptor binding|transmembrane receptor activity breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 32 GBM - Glioblastoma multiforme(131;0.0851) TTGAATGTTTGGTCTTGAATT 0.368000 58 89 0 0 1 0 0 CCDC40 55036 broad.mit.edu 37 17 78063594 78063594 + Nonsense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:78063594C>T ENST00000397545.4 + 17 2770 c.2743C>T c.(2743-2745)Caa>Taa p.Q915* CCDC40_ENST00000374877.3_Nonsense_Mutation_p.Q915*|CCDC40_ENST00000573903.1_3'UTR NM_017950.3 NP_060420.2 Q4G0X9 CCD40_HUMAN coiled-coil domain containing 40 915 axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility cilium|cytoplasm NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1) 38 all_neural(118;0.167) OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149) GAAAAAAATCCAACTGGCAAA 0.502000 25 133 0 0 1 0 0 KCNMA1 3778 broad.mit.edu 37 10 78872173 78872173 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:78872173G>A ENST00000286627.5 - 7 1864 c.912C>T c.(910-912)ctC>ctT p.L304L KCNMA1_ENST00000404857.1_Silent_p.L304L|KCNMA1_ENST00000286628.8_Silent_p.L304L|KCNMA1_ENST00000372440.1_Silent_p.L304L|KCNMA1_ENST00000372443.1_Silent_p.L304L|KCNMA1_ENST00000404771.3_Silent_p.L304L|KCNMA1_ENST00000354353.5_Silent_p.L304L|KCNMA1_ENST00000406533.3_Silent_p.L304L NM_002247.3 NP_002238.2 Q12791 KCMA1_HUMAN potassium large conductance calcium-activated channel, subfamily M, alpha member 1 304 cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 68 all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198) OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183) Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021) TAAATATGGAGAGCAGATTCA 0.517000 19 47 0 0 1 0 0 PCBP4 57060 broad.mit.edu 37 3 51992937 51992937 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:51992937G>A ENST00000461554.1 - 13 1123 c.792C>T c.(790-792)atC>atT p.I264I PCBP4_ENST00000395013.3_Silent_p.I104I|PCBP4_ENST00000395014.2_Silent_p.I285I|PCBP4_ENST00000484633.1_Silent_p.I221I|PCBP4_ENST00000471622.1_Silent_p.I264I|PCBP4_ENST00000428823.2_Silent_p.I221I|PCBP4_ENST00000322099.7_Silent_p.I264I|PCBP4_ENST00000355852.2_Silent_p.I264I NM_001174100.1 NP_001167571.1 P57723 PCBP4_HUMAN poly(rC) binding protein 4 264 KH 3. cytoplasm|ribonucleoprotein complex DNA binding|RNA binding endometrium(2)|large_intestine(2)|lung(2)|prostate(1)|stomach(1) 8 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716) GGATCTCGCTGATCTTGCTGC 0.617000 55 125 0 0 1 0 0 FNDC7 163479 broad.mit.edu 37 1 109265133 109265133 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:109265133G>A ENST00000370017.3 + 5 1052 c.775G>A c.(775-777)Gga>Aga p.G259R FNDC7_ENST00000271311.2_Missense_Mutation_p.G260R NM_001144937.1 NP_001138409.1 Q5VTL7 FNDC7_HUMAN fibronectin type III domain containing 7 260 Fibronectin type-III 3. extracellular region breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|skin(4)|stomach(1)|urinary_tract(1) 20 all_lung(203;0.00439)|Lung NSC(277;0.00683)|all_epithelial(167;0.00728) Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.173)|all cancers(265;0.244) CCTCCAGTGTGGAACTGAATA 0.423000 29 54 0 0 1 0 0 PRSS53 339105 broad.mit.edu 37 16 31096236 31096236 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr16:31096236C>T ENST00000280606.6 - 8 1297 c.1144G>A c.(1144-1146)Gac>Aac p.D382N NM_001039503.2 NP_001034592.1 Q2L4Q9 PRS53_HUMAN protease, serine, 53 382 Peptidase S1 2. proteolysis extracellular region serine-type endopeptidase activity large_intestine(1)|lung(3) 4 AGGGCCATGTCGTAGCCCCCC 0.677000 4 7 0 0 1 0 0 ABCA5 23461 broad.mit.edu 37 17 67298917 67298917 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:67298917G>A ENST00000392676.3 - 8 1125 c.1061C>T c.(1060-1062)tCg>tTg p.S354L ABCA5_ENST00000588877.1_Missense_Mutation_p.S354L|ABCA5_ENST00000392677.2_Missense_Mutation_p.S354L Q8WWZ7 ABCA5_HUMAN ATP-binding cassette, sub-family A (ABC1), member 5 354 cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane ATP binding|ATPase activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 54 Breast(10;3.72e-11) CCACACTAACGATTTGGGAAA 0.313000 30 75 0 0 1 0 0 KNDC1 85442 broad.mit.edu 37 10 135011895 135011895 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:135011895C>T ENST00000304613.3 + 13 1982 c.1961C>T c.(1960-1962)cCc>cTc p.P654L KNDC1_ENST00000368572.2_Missense_Mutation_p.P654L|KNDC1_ENST00000368571.2_Missense_Mutation_p.P589L Q76NI1 VKIND_HUMAN kinase non-catalytic C-lobe domain (KIND) containing 1 654 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 60 all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05) GGGCCCGTGCCCGGCCAGCAC 0.697000 11 12 0 0 1 0 0 SDR9C7 121214 broad.mit.edu 37 12 57324083 57324083 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:57324083C>T ENST00000293502.1 - 2 630 c.487G>A c.(487-489)Ggt>Agt p.G163S NM_148897.2 NP_683695.1 Q8NEX9 DR9C7_HUMAN short chain dehydrogenase/reductase family 9C, member 7 163 cytoplasm binding|oxidoreductase activity breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|pancreas(1) 7 GCCACACGACCACCAGAGCTG 0.542000 72 137 0 0 1 0 0 PTPRN2 5799 broad.mit.edu 37 7 157985102 157985102 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:157985102G>A ENST00000389413.3 - 5 569 c.466C>T c.(466-468)Ccc>Tcc p.P156S PTPRN2_ENST00000404321.2_Missense_Mutation_p.P179S|PTPRN2_ENST00000389416.4_Missense_Mutation_p.P139S|PTPRN2_ENST00000409483.1_Missense_Mutation_p.P118S|PTPRN2_ENST00000389418.4_Missense_Mutation_p.P156S NM_130843.2 NP_570858.2 Q92932 PTPR2_HUMAN protein tyrosine phosphatase, receptor type, N polypeptide 2 156 integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1) 86 all_neural(206;0.181) all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132) OV - Ovarian serous cystadenocarcinoma(82;0.00463) STAD - Stomach adenocarcinoma(7;0.0875) TCCAGGAAGGGCAGGTGGCGT 0.662000 42 135 0 0 1 0 0 SPATA31D1 389763 broad.mit.edu 37 9 84607145 84607145 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:84607145C>T ENST00000344803.2 + 4 1807 c.1760C>T c.(1759-1761)cCa>cTa p.P587L NM_001001670.2 NP_001001670.1 SPATA31 subfamily D, member 1 CCTCAATCTCCATTCCGAGCC 0.522000 42 102 0 0 1 0 0 TRHDE 29953 broad.mit.edu 37 12 73046870 73046870 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:73046870G>A ENST00000261180.4 + 17 2879 c.2783G>A c.(2782-2784)cGa>cAa p.R928Q NM_013381.2 NP_037513.1 Q9UKU6 TRHDE_HUMAN thyrotropin-releasing hormone degrading enzyme 928 cell-cell signaling|proteolysis|signal transduction integral to plasma membrane aminopeptidase activity|metallopeptidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 79 CATGTAGCTCGAAATCCACAT 0.353000 32 56 0 0 1 0 0 MON2 23041 broad.mit.edu 37 12 62919818 62919818 + Missense_Mutation SNP G G C TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:62919818G>C ENST00000393630.3 + 11 1727 c.1336G>C c.(1336-1338)Gaa>Caa p.E446Q MON2_ENST00000552738.1_Missense_Mutation_p.E446Q|MON2_ENST00000280379.6_Missense_Mutation_p.E446Q|MON2_ENST00000393632.2_Missense_Mutation_p.E446Q|MON2_ENST00000546600.1_Missense_Mutation_p.E446Q|MON2_ENST00000552115.1_Missense_Mutation_p.E446Q|MON2_ENST00000393629.2_Missense_Mutation_p.E446Q NM_001278470.1|NM_001278472.1 NP_001265399.1|NP_001265401.1 Q7Z3U7 MON2_HUMAN MON2 homolog (S. cerevisiae) 446 Golgi to endosome transport|protein transport cytoplasm ARF guanyl-nucleotide exchange factor activity|binding NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(15)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 57 BRCA - Breast invasive adenocarcinoma(9;0.218) GBM - Glioblastoma multiforme(28;0.128) ACCAGCATTTGAATATAGGGG 0.423000 45 122 0 0 1 0 0 KRT33B 3884 broad.mit.edu 37 17 39525891 39525891 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:39525891G>A ENST00000251646.3 - 1 161 c.112C>T c.(112-114)Cct>Tct p.P38S NM_002279.4 NP_002270.1 Q14525 KT33B_HUMAN keratin 33B 38 Head. intermediate filament protein binding|structural molecule activity NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(6)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1) 21 Breast(137;0.000496) ACATTGGCAGGGATGTTGCAG 0.647000 49 109 0 0 1 0 0 MCM10 55388 broad.mit.edu 37 10 13228185 13228185 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:13228185C>T ENST00000378694.1 + 8 1195 c.1120C>T c.(1120-1122)Cct>Tct p.P374S MCM10_ENST00000378714.3_Missense_Mutation_p.P374S|MCM10_ENST00000484800.2_Missense_Mutation_p.P375S Q7L590 MCM10_HUMAN minichromosome maintenance complex component 10 375 cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle nucleoplasm metal ion binding|protein binding central_nervous_system(1)|large_intestine(4)|ovary(2)|skin(1)|stomach(1) 9 TATCGATCATCCTCAGAAGGT 0.433000 21 194 0 0 1 0 0 MEOX2 4223 broad.mit.edu 37 7 15652013 15652013 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:15652013C>T ENST00000262041.5 - 3 1323 c.914G>A c.(913-915)tGa>tAa p.*305* NM_005924.4 NP_005915.2 P50222 MEOX2_HUMAN mesenchyme homeobox 2 0 blood circulation|multicellular organismal development cytoplasm|nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 24 UCEC - Uterine corpus endometrioid carcinoma (126;0.0822) CTGTTTATATCATAAGTGCGC 0.478000 30 72 0 0 1 0 0 T 6862 broad.mit.edu 37 6 166571958 166571958 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:166571958G>A ENST00000296946.2 - 9 1621 c.1153C>T c.(1153-1155)Ccc>Tcc p.P385S T_ENST00000366871.3_Missense_Mutation_p.P327S NM_003181.3 NP_003172.1 O15178 BRAC_HUMAN T, brachyury homolog (mouse) 385 anterior/posterior axis specification, embryo|mesoderm development|primitive streak formation nucleus sequence-specific DNA binding transcription factor activity autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 39 Prostate(117;4.48e-07)|Ovarian(120;1.78e-06)|Breast(66;2.54e-06)|Lung SC(201;0.0225)|Esophageal squamous(34;0.0559) OV - Ovarian serous cystadenocarcinoma(33;1.09e-113)|GBM - Glioblastoma multiforme(31;1.51e-108)|BRCA - Breast invasive adenocarcinoma(81;8.45e-09)|LUAD - Lung adenocarcinoma(999;0.0407) TGGGTGAGGGGTGTGTAGTGC 0.711000 Chordoma, Familial Clustering of 69 29 0 0 1 0 0 FNDC1 84624 broad.mit.edu 37 6 159655021 159655021 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:159655021G>A ENST00000297267.9 + 11 3677 c.3477G>A c.(3475-3477)tcG>tcA p.S1159S FNDC1_ENST00000340366.6_Silent_p.S1096S NM_032532.2 NP_115921.2 Q4ZHG4 FNDC1_HUMAN fibronectin type III domain containing 1 1159 extracellular region NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3) 93 Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195) OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05) CGGGGAAGTCGGAGCCTCCTT 0.716000 10 15 0 0 1 0 0 KANK4 163782 broad.mit.edu 37 1 62739235 62739235 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:62739235C>T ENST00000371153.4 - 3 1919 c.1541G>A c.(1540-1542)gGa>gAa p.G514E KANK4_ENST00000354381.3_Intron NM_181712.4 NP_859063.3 Q5T7N3 KANK4_HUMAN KN motif and ankyrin repeat domains 4 514 NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2) 81 CCTGGTTCCTCCCTGAGGGCC 0.592000 5 116 0 0 1 0 0 PKHD1 5314 broad.mit.edu 37 6 51513909 51513909 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:51513909G>A ENST00000371117.3 - 62 11559 c.11284C>T c.(11284-11286)Cca>Tca p.P3762S NM_138694.3 NP_619639.3 P08F94 PKHD1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive) 3762 cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body protein binding|receptor activity NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5) 304 Lung NSC(77;0.0605) ACCAATTGTGGCTGCACTGGA 0.413000 146 116 0 0 1 0 0 SVEP1 79987 broad.mit.edu 37 9 113220765 113220765 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:113220765C>T ENST00000401783.2 - 20 3898 c.3562G>A c.(3562-3564)Gaa>Aaa p.E1188K SVEP1_ENST00000467821.1_5'UTR|SVEP1_ENST00000374469.1_Missense_Mutation_p.E1165K|SVEP1_ENST00000302728.8_Missense_Mutation_p.E1188K NM_153366.3 NP_699197.3 Q4LDE5 SVEP1_HUMAN sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 1188 cell adhesion cytoplasm|extracellular region|membrane calcium ion binding NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4) 147 CTGCTGATTTCATGCCTCTTT 0.398000 11 18 0 0 1 0 0 RGS22 26166 broad.mit.edu 37 8 101014523 101014523 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:101014523C>T ENST00000360863.6 - 18 2891 c.2697G>A c.(2695-2697)agG>agA p.R899R RGS22_ENST00000523287.1_Silent_p.R718R|RGS22_ENST00000523437.1_Silent_p.R887R NM_015668.3 NP_056483.3 Q8NE09 RGS22_HUMAN regulator of G-protein signaling 22 899 RGS 1. negative regulation of signal transduction cytoplasm|plasma membrane GTPase activator activity|signal transducer activity RGS22/SYCP1(2) breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 68 Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169) ATTTTGCCTTCCTTTGATTTC 0.348000 30 63 0 0 1 0 0 ZNF35 7584 broad.mit.edu 37 3 44694062 44694062 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:44694062C>T ENST00000396056.2 + 3 441 c.206C>T c.(205-207)tCc>tTc p.S69F RP11-944L7.4_ENST00000457331.1_RNA|ZNF35_ENST00000542250.1_Intron|ZNF35_ENST00000296092.3_Intron|ZNF35_ENST00000399560.2_Intron|ZNF35_ENST00000453164.1_Intron NM_003420.3 NP_003411.3 P13682 ZNF35_HUMAN zinc finger protein 35 69 Globular domain. cellular response to retinoic acid|spermatogenesis nucleus|perinuclear region of cytoplasm sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding large_intestine(3)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(1) 12 Ovarian(412;0.0228) OV - Ovarian serous cystadenocarcinoma(275;2.49e-27)|KIRC - Kidney renal clear cell carcinoma(197;0.0475)|Kidney(197;0.0595) CAGAACATATCCTGGGATATG 0.478000 109 244 0 0 1 0 0 TDO2 6999 broad.mit.edu 37 4 156838548 156838548 + Splice_Site SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:156838548G>A ENST00000536354.2 + 10 962 c.896_splice c.e10-1 p.E300_splice NM_005651.3 NP_005642.1 P48775 T23O_HUMAN tryptophan 2,3-dioxygenase 300 tryptophan catabolic process to kynurenine cytosol tryptophan 2,3-dioxygenase activity breast(3)|endometrium(1)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|urinary_tract(1) 18 all_hematologic(180;0.24) Renal(120;0.0854) KIRC - Kidney renal clear cell carcinoma(143;0.0455)|Kidney(143;0.0568)|COAD - Colon adenocarcinoma(41;0.141) L-Tryptophan(DB00150) TTCCTTTAGGGAAGAGCCTAG 0.418000 5 109 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179479455 179479455 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:179479455C>T ENST00000589042.1 - 261 49010 c.48786G>A c.(48784-48786)gtG>gtA p.V16262V TTN_ENST00000359218.5_Silent_p.V7322V|TTN_ENST00000591111.1_Silent_p.V14621V|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Silent_p.V13694V|TTN_ENST00000460472.2_Silent_p.V7197V|TTN_ENST00000342175.6_Silent_p.V7389V|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589907.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 14621 Fibronectin type-III 18. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) CAAGGAGCTTCACATCGAGGA 0.423000 26 53 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9065504 9065504 + Silent SNP A A C TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:9065504A>C ENST00000397910.4 - 3 22145 c.21942T>G c.(21940-21942)acT>acG p.T7314T NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 7316 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 GGATGGGGGAAGTAGGGAACT 0.448000 7 68 0 0 1 0 0 ALDH1A3 220 broad.mit.edu 37 15 101434168 101434168 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr15:101434168C>T ENST00000329841.5 + 6 1079 c.547C>T c.(547-549)Ccc>Tcc p.P183S RP11-66B24.4_ENST00000560351.1_RNA|ALDH1A3_ENST00000346623.6_Intron NM_000693.2 NP_000684.2 P47895 AL1A3_HUMAN aldehyde dehydrogenase 1 family, member A3 183 retinal metabolic process cytoplasm aldehyde dehydrogenase|protein homodimerization activity NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(7)|lung(9)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1) 27 Lung NSC(78;0.00144)|all_lung(78;0.0018)|Melanoma(26;0.00852) OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.0766)|Lung(145;0.103) NADH(DB00157)|Vitamin A(DB00162) GTGGAACTTCCCCCTGCTGAT 0.597000 6 216 0 0 1 0 0 C2orf16 84226 broad.mit.edu 37 2 27804230 27804230 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:27804230C>T ENST00000408964.2 + 1 4842 c.4791C>T c.(4789-4791)aaC>aaT p.N1597N NM_032266.3 NP_115642.3 Q68DN1 CB016_HUMAN chromosome 2 open reading frame 16 1597 27 X 8 AA approximative tandem repeat of P-S-E-R-S-H-H-S.|Arg-rich. breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1) 47 Acute lymphoblastic leukemia(172;0.155) CTAGGAAAAACCATTCCAGTC 0.552000 62 140 0 0 1 0 0 CAMSAP1 157922 broad.mit.edu 37 9 138703184 138703184 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:138703184C>T ENST00000389532.4 - 17 4844 c.4780G>A c.(4780-4782)Gtg>Atg p.V1594M CAMSAP1_ENST00000409386.3_Missense_Mutation_p.V1605M|CAMSAP1_ENST00000483991.1_5'UTR|CAMSAP1_ENST00000312405.6_Missense_Mutation_p.V1316M NM_015447.3 NP_056262.3 Q5T5Y3 CAMP1_HUMAN calmodulin regulated spectrin-associated protein 1 1594 CKK. cytoplasm|microtubule breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1) 47 OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05) TTCTTTGGCACTGCAGGCCGC 0.557000 10 13 0 0 1 0 0 REG1P 5969 broad.mit.edu 37 2 79363936 79363936 + RNA SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:79363936C>T ENST00000444841.1 - 0 402 TCATGGAGGCCAATCCAGACA 0.517000 11 27 0 0 1 0 0 XDH 7498 broad.mit.edu 37 2 31598411 31598411 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:31598411C>T ENST00000379416.3 - 15 1485 c.1437G>A c.(1435-1437)aaG>aaA p.K479K NM_000379.3 NP_000370.2 P47989 XDH_HUMAN xanthine dehydrogenase 479 purine nucleotide catabolic process|xanthine catabolic process cytosol|extracellular region|peroxisome 2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1) 74 Acute lymphoblastic leukemia(172;0.155) Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163) GCAGCTCCTCCTTCCAGAGCC 0.667000 26 38 0 0 1 0 0 GJA1 2697 broad.mit.edu 37 6 121768717 121768717 + Missense_Mutation SNP G G A rs138386744 byFrequency TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:121768717G>A ENST00000282561.3 + 2 881 c.724G>A c.(724-726)Gga>Aga p.G242R NM_000165.3 NP_000156.1 P17302 CXA1_HUMAN gap junction protein, alpha 1, 43kDa 242 cell-cell signaling|cellular membrane organization|gap junction assembly|heart development|muscle contraction|positive regulation of I-kappaB kinase/NF-kappaB cascade connexon complex|Golgi-associated vesicle membrane|integral to plasma membrane|membrane raft ion transmembrane transporter activity|signal transducer activity autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(2)|large_intestine(10)|liver(2)|lung(13)|ovary(2) 33 GBM - Glioblastoma multiforme(226;0.00252) Carvedilol(DB01136) TCGGGTTAAGGGAAAGAGCGA 0.488000 28 81 0 0 1 0 0 AADACL4 343066 broad.mit.edu 37 1 12704715 12704715 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:12704715C>T ENST00000376221.1 + 1 150 c.150C>T c.(148-150)ttC>ttT p.F50F NM_001013630.1 NP_001013652.1 Q5VUY2 ADCL4_HUMAN arylacetamide deacetylase-like 4 50 integral to membrane carboxylesterase activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(6)|prostate(1) 17 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.000937)|all_lung(284;0.00122)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.81e-07)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0384) ATTGCATATTCCTCTACCTGG 0.507000 59 173 0 0 1 0 0 MGAM 8972 broad.mit.edu 37 7 141768471 141768471 + Missense_Mutation SNP T T G TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:141768471T>G ENST00000475668.2 + 43 5083 c.5029T>G c.(5029-5031)Ttc>Gtc p.F1677V MGAM_ENST00000549489.2_Intron O43451 MGA_HUMAN maltase-glucoamylase (alpha-glucosidase) 1677 Glucoamylase. polysaccharide digestion|starch catabolic process apical plasma membrane|integral to membrane carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2) 13 Melanoma(164;0.0272) Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878) CACTGCATATTTCCCTAGAGC 0.418000 5 92 0 0 1 0 0 KCNMA1 3778 broad.mit.edu 37 10 78708945 78708945 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:78708945C>T ENST00000286627.5 - 21 3442 c.2490G>A c.(2488-2490)cgG>cgA p.R830R KCNMA1_ENST00000404857.1_Silent_p.R871R|RP11-443A13.5_ENST00000598613.1_RNA|KCNMA1_ENST00000286628.8_Silent_p.R888R|KCNMA1_ENST00000372440.1_Silent_p.R830R|KCNMA1_ENST00000372443.1_Silent_p.R830R|RP11-443A13.5_ENST00000426234.1_RNA|KCNMA1_ENST00000404771.3_Silent_p.R888R|KCNMA1_ENST00000354353.5_Silent_p.R891R|RP11-443A13.5_ENST00000600782.1_RNA|RP11-443A13.5_ENST00000458661.2_RNA|KCNMA1_ENST00000406533.3_Silent_p.R892R NM_002247.3 NP_002238.2 Q12791 KCMA1_HUMAN potassium large conductance calcium-activated channel, subfamily M, alpha member 1 888 cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 68 all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198) OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183) Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021) TCTCCCATTCCCGCTTGAGGT 0.468000 5 259 0 0 1 0 0 ENPEP 2028 broad.mit.edu 37 4 111463966 111463966 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:111463966C>T ENST00000265162.5 + 12 2209 c.1867C>T c.(1867-1869)Cat>Tat p.H623Y NM_001977.3 NP_001968.3 Q07075 AMPE_HUMAN glutamyl aminopeptidase (aminopeptidase A) 623 cell migration|cell proliferation|cell-cell signaling|proteolysis integral to plasma membrane aminopeptidase activity|metalloexopeptidase activity|zinc ion binding breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1) 54 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.0031) L-Glutamic Acid(DB00142) AAACCCAGATCATATTGGGTT 0.378000 38 81 0 0 1 0 0 PDGFRB 5159 broad.mit.edu 37 5 149497189 149497189 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:149497189G>A ENST00000261799.4 - 22 3598 c.3129C>T c.(3127-3129)agC>agT p.S1043S NM_002609.3 NP_002600.1 P09619 PGFRB_HUMAN platelet-derived growth factor receptor, beta polypeptide 1043 aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1) 75 all_hematologic(541;0.224) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268) ACCTGGCTAGGCTGGGGGAAC 0.632000 T """ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP""" """MPD, AML, CMML, CML""" 24 65 0 0 1 0 0 PPP1R9A 55607 broad.mit.edu 37 7 94540556 94540556 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:94540556C>T ENST00000289495.5 + 1 1347 c.1131C>T c.(1129-1131)tcC>tcT p.S377S PPP1R9A_ENST00000424654.1_Silent_p.S377S|PPP1R9A_ENST00000456331.2_Silent_p.S377S|PPP1R9A_ENST00000340694.4_Silent_p.S377S|PPP1R9A_ENST00000433360.1_Silent_p.S377S|PPP1R9A_ENST00000433881.1_Silent_p.S377S NM_001166161.1 NP_001159633.1 Q9ULJ8 NEB1_HUMAN protein phosphatase 1, regulatory subunit 9A 377 cell junction|synapse|synaptosome actin binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5) 71 all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09) STAD - Stomach adenocarcinoma(171;0.0031) CTTCTGCATCCAGTTGTGGAA 0.423000 HNSCC(28;0.073) 8 104 0 0 1 0 0 SSPO 23145 broad.mit.edu 37 7 149519033 149519033 + RNA SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:149519033C>T ENST00000378016.2 + 0 12837 A2VEC9 SSPO_HUMAN SCO-spondin cell adhesion extracellular space peptidase inhibitor activity Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) GAACCCGGGCCTGCAGGGCCG 0.692000 4 17 0 0 1 0 0 MYH8 4626 broad.mit.edu 37 17 10296479 10296479 + Nonsense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:10296479G>A ENST00000403437.2 - 36 5309 c.5215C>T c.(5215-5217)Caa>Taa p.Q1739* CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA NM_002472.2 NP_002463.2 P13535 MYH8_HUMAN myosin, heavy chain 8, skeletal muscle, perinatal 1739 muscle filament sliding cytosol|muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2) 134 CTTTGGAGTTGGGAAACGTCA 0.393000 Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling 58 170 0 0 1 0 0 ZNF668 79759 broad.mit.edu 37 16 31075511 31075511 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr16:31075511G>A ENST00000538906.1 - 2 1054 c.270C>T c.(268-270)ccC>ccT p.P90P ZNF668_ENST00000300849.4_Silent_p.P90P|ZNF668_ENST00000394983.2_Silent_p.P90P|ZNF668_ENST00000426488.2_Silent_p.P113P|ZNF668_ENST00000535577.1_Silent_p.P90P|ZNF668_ENST00000539836.3_Silent_p.P113P NM_001172668.1 NP_001166139.1 Q96K58 ZN668_HUMAN zinc finger protein 668 90 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1) 27 TGTAGGCCTTGGGGCATAGCG 0.667000 23 73 0 0 1 0 0 APOA4 337 broad.mit.edu 37 11 116693442 116693442 + Nonsense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:116693442G>A ENST00000357780.3 - 2 223 c.109C>T c.(109-111)Cag>Tag p.Q37* NM_000482.3 NP_000473.2 apolipoprotein A-IV cervix(1)|endometrium(2)|lung(10)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 20 all_hematologic(175;0.0487) Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0564)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.62e-05)|all cancers(92;0.000165)|OV - Ovarian serous cystadenocarcinoma(223;0.148) TTGCTCAGCTGGCTGAAGTAG 0.572000 48 91 0 0 1 0 0 ADAM2 2515 broad.mit.edu 37 8 39644532 39644532 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:39644532C>T ENST00000265708.4 - 10 955 c.852G>A c.(850-852)ggG>ggA p.G284G ADAM2_ENST00000521880.1_Silent_p.G284G|ADAM2_ENST00000347580.4_Silent_p.G265G|ADAM2_ENST00000379853.2_Intron NM_001464.3 NP_001455.3 Q99965 ADAM2_HUMAN ADAM metallopeptidase domain 2 284 Peptidase M12B. cell adhesion|fusion of sperm to egg plasma membrane|proteolysis integral to plasma membrane integrin binding|metalloendopeptidase activity|zinc ion binding haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1) 53 all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246) LUSC - Lung squamous cell carcinoma(45;0.000149) READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162) CACACATCTTCCCTTGAAAGG 0.294000 27 73 0 0 1 0 0 HIST1H2AI 8329 broad.mit.edu 37 6 27776029 27776029 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:27776029G>A ENST00000358739.3 + 1 131 c.42G>A c.(40-42)aaG>aaA p.K14K NM_003509.2 NP_003500.1 histone cluster 1, H2ai lung(3) 3 CTCGCGCCAAGGCCAAGACCC 0.572000 46 180 0 0 1 0 0 TSHZ3 57616 broad.mit.edu 37 19 31767497 31767497 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:31767497G>A ENST00000240587.4 - 2 3529 c.3202C>T c.(3202-3204)Ccg>Tcg p.P1068S NM_020856.2 NP_065907.2 Q63HK5 TSH3_HUMAN teashirt zinc finger homeobox 3 1068 negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process growth cone|nucleus chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5) 123 Esophageal squamous(110;0.226) TGGTCTTCCGGAGATTTCCCG 0.468000 30 66 0 0 1 0 0 IQCH 64799 broad.mit.edu 37 15 67665766 67665766 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr15:67665766C>T ENST00000335894.4 + 10 1433 c.1367C>T c.(1366-1368)tCa>tTa p.S456L IQCH_ENST00000360277.4_Missense_Mutation_p.S208L|IQCH_ENST00000546225.1_Missense_Mutation_p.S204L|IQCH_ENST00000358767.3_Missense_Mutation_p.S283L NM_001031715.2 NP_001026885.1 Q86VS3 IQCH_HUMAN IQ motif containing H 456 NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(2)|pancreas(2)|skin(5)|upper_aerodigestive_tract(1) 33 Colorectal(3;0.0856) CATATCCCATCATTAGGTATA 0.433000 32 62 0 0 1 0 0 SIK1 150094 broad.mit.edu 37 21 44839813 44839813 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr21:44839813G>A ENST00000270162.6 - 9 1177 c.1045C>T c.(1045-1047)Cgg>Tgg p.R349W NM_173354.3 NP_775490.2 P57059 SIK1_HUMAN salt-inducible kinase 1 349 anoikis|cell cycle|cell differentiation|intracellular protein kinase cascade|multicellular organismal development|regulation of cell differentiation|regulation of mitotic cell cycle nucleus ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)|testis(2)|urinary_tract(1) 21 TGGGCATTCCGATACTCCTTG 0.607000 7 15 0 0 1 0 0 RASSF6 166824 broad.mit.edu 37 4 74447573 74447573 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:74447573G>A ENST00000307439.5 - 8 976 c.682C>T c.(682-684)Ccc>Tcc p.P228S RASSF6_ENST00000342081.3_Missense_Mutation_p.P260S|RASSF6_ENST00000335049.5_Missense_Mutation_p.P216S|RASSF6_ENST00000395777.2_Missense_Mutation_p.P194S NM_001270391.1|NM_177532.4 NP_001257320.1|NP_803876.1 Q6ZTQ3 RASF6_HUMAN Ras association (RalGDS/AF-6) domain family member 6 260 Ras-associating. apoptosis|signal transduction protein binding breast(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|pancreas(2)|skin(2) 17 Breast(15;0.00102) all cancers(17;0.00104)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187) AAATCCTGGGGACTATTTTCA 0.373000 18 57 0 0 1 0 0 NIPBL 25836 broad.mit.edu 37 5 37002781 37002781 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:37002781C>T ENST00000282516.8 + 15 4181 c.3682C>T c.(3682-3684)Cct>Tct p.P1228S NIPBL_ENST00000448238.2_Missense_Mutation_p.P1228S NM_015384.4|NM_133433.3 NP_056199.2|NP_597677.2 Q6KC79 NIPBL_HUMAN Nipped-B homolog (Drosophila) 1228 brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis SMC loading complex chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4) 128 all_lung(31;0.000447)|Hepatocellular(1;0.108) Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202) TGATGAAATTCCTCAGGAACT 0.328000 28 84 0 0 1 0 0 MYOF 26509 broad.mit.edu 37 10 95126303 95126303 + Nonsense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:95126303G>A ENST00000371501.4 - 26 2721 c.2599C>T c.(2599-2601)Caa>Taa p.Q867* MYOF_ENST00000359263.4_Nonsense_Mutation_p.Q867*|MYOF_ENST00000358334.5_Nonsense_Mutation_p.Q854*|MYOF_ENST00000371502.4_Nonsense_Mutation_p.Q867* Q9NZM1 MYOF_HUMAN myoferlin 867 blood circulation|muscle contraction|plasma membrane repair caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane phospholipid binding|protein binding NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 67 ATGAGAGCTTGATTTTCATAC 0.338000 26 57 0 0 1 0 0 ARHGEF15 22899 broad.mit.edu 37 17 8216363 8216363 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:8216363C>T ENST00000361926.3 + 3 835 c.725C>T c.(724-726)tCc>tTc p.S242F ARHGEF15_ENST00000421050.1_Missense_Mutation_p.S242F NM_173728.3 NP_776089.2 O94989 ARHGF_HUMAN Rho guanine nucleotide exchange factor (GEF) 15 242 negative regulation of synapse maturation|regulation of Rho protein signal transduction dendrite|intracellular GTPase activator activity|Rho guanyl-nucleotide exchange factor activity breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1) 37 CGTCGGGCCTCCCCGCTGCGG 0.692000 63 131 0 0 1 0 0 SERPINB13 5275 broad.mit.edu 37 18 61260125 61260125 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr18:61260125C>T ENST00000344731.5 + 5 494 c.392C>T c.(391-393)tCt>tTt p.S131F SERPINB13_ENST00000269489.5_Missense_Mutation_p.S131F NM_012397.3 NP_036529.1 Q9UIV8 SPB13_HUMAN serpin peptidase inhibitor, clade B (ovalbumin), member 13 131 regulation of proteolysis|response to UV cytoplasm|extracellular region serine-type endopeptidase inhibitor activity breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|urinary_tract(1) 25 TATCATGCATCTCTGGAACCT 0.333000 43 106 0 0 1 0 0 TECTA 7007 broad.mit.edu 37 11 121016293 121016293 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:121016293G>A ENST00000392793.1 + 12 3844 c.3573G>A c.(3571-3573)ctG>ctA p.L1191L TECTA_ENST00000478058.1_3'UTR|TECTA_ENST00000264037.2_Silent_p.L1191L O75443 TECTA_HUMAN tectorin alpha 1191 VWFD 3. cell-matrix adhesion|sensory perception of sound anchored to membrane|plasma membrane|proteinaceous extracellular matrix TECTA/TBCEL(2) NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 135 all_hematologic(175;0.208) Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166) ATCTGCCCCTGAAGCTGGGGC 0.488000 146 123 0 0 1 0 0 PCDHB7 56129 broad.mit.edu 37 5 140552569 140552569 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:140552569C>T ENST00000231137.3 + 1 327 c.153C>T c.(151-153)gaC>gaT p.D51D NM_018940.2 NP_061763.1 Q9Y5E2 PCDB7_HUMAN 51 Cadherin 1. calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1) 119 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TGGCAAAAGACCTAGGGTTAG 0.502000 30 89 0 0 1 0 0 SLC25A34 284723 broad.mit.edu 37 1 16065743 16065743 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:16065743G>A ENST00000294454.5 + 5 838 c.757G>A c.(757-759)Gac>Aac p.D253N SLC25A34_ENST00000489568.1_3'UTR NM_207348.1 NP_997231.1 Q6PIV7 S2534_HUMAN solute carrier family 25, member 34 253 transport integral to membrane|mitochondrial inner membrane NS(1)|breast(1)|endometrium(3)|large_intestine(1)|lung(2)|skin(1) 9 Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.56e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) GGGCCTCACCGACTGCATGGT 0.657000 45 109 0 0 1 0 0 SNTN 132203 broad.mit.edu 37 3 63638415 63638415 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:63638415G>A ENST00000496807.1 + 1 42 c.40G>A c.(40-42)Gat>Aat p.D14N SNTN_ENST00000343837.3_Missense_Mutation_p.D18N A6NMZ2 SNTAN_HUMAN sentan, cilia apical structure protein 18 cilium calcium ion binding endometrium(2)|ovary(1) 3 CTTGGAAGGAGATCCCAATCC 0.478000 7 91 0 0 1 0 0 LGALS4 3960 broad.mit.edu 37 19 39299510 39299510 + Nonsense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:39299510C>T ENST00000307751.4 - 3 690 c.213G>A c.(211-213)tgG>tgA p.W71* LGALS4_ENST00000597803.1_Intron NM_006149.3 NP_006140.1 P56470 LEG4_HUMAN lectin, galactoside-binding, soluble, 4 71 Galectin 1. cell adhesion cytosol|plasma membrane sugar binding NS(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 17 all_cancers(60;1.02e-05)|Ovarian(47;0.0454) Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741) CCACCTTGTCCCAGCCGTCAA 0.592000 36 77 0 0 1 0 0 BHMT2 23743 broad.mit.edu 37 5 78379637 78379637 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:78379637G>A ENST00000255192.3 + 7 1034 c.968G>A c.(967-969)gGa>gAa p.G323E DMGDH_ENST00000520388.1_Intron|BHMT2_ENST00000521567.1_Missense_Mutation_p.G259E NM_017614.4 NP_060084.2 Q9H2M3 BHMT2_HUMAN betaine--homocysteine S-methyltransferase 2 323 methionine biosynthetic process cytoplasm betaine-homocysteine S-methyltransferase activity|homocysteine S-methyltransferase activity|zinc ion binding endometrium(2)|large_intestine(8)|lung(2)|ovary(1)|skin(1)|urinary_tract(1) 15 all_lung(232;0.00063)|Lung NSC(167;0.00171)|Ovarian(174;0.0261)|Prostate(461;0.191) OV - Ovarian serous cystadenocarcinoma(54;2.09e-45)|Epithelial(54;9.3e-41)|all cancers(79;4.09e-36) L-Methionine(DB00134) GGCAGCTGGGGAAGTGGTTTG 0.433000 21 34 0 0 1 0 0 GC 2638 broad.mit.edu 37 4 72611908 72611908 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:72611908C>T ENST00000273951.8 - 12 1753 c.1410G>A c.(1408-1410)ttG>ttA p.L470L GC_ENST00000504199.1_Silent_p.L489L|GC_ENST00000513476.1_Intron|GC_ENST00000503472.1_5'UTR NM_000583.3|NM_001204306.1 NP_000574.2|NP_001191235.1 P02774 VTDB_HUMAN group-specific component (vitamin D binding protein) 470 Albumin 3. hormone biosynthetic process|vitamin D metabolic process cytosol|lysosomal lumen actin binding|vitamin D binding|vitamin transporter activity endometrium(5)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4) 45 all_hematologic(202;0.107) Lung(101;0.148) Cholecalciferol(DB00169) GGATATTCTTCAATTCAGCAT 0.303000 37 89 0 0 1 0 0 MGAM 8972 broad.mit.edu 37 7 141734510 141734510 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:141734510C>T ENST00000475668.2 + 16 1882 c.1828C>T c.(1828-1830)Ctg>Ttg p.L610L MGAM_ENST00000549489.2_Silent_p.L610L O43451 MGA_HUMAN maltase-glucoamylase (alpha-glucosidase) 610 Maltase. polysaccharide digestion|starch catabolic process apical plasma membrane|integral to membrane carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2) 13 Melanoma(164;0.0272) Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878) AAGCTTCATTCTGACCCGTTC 0.517000 26 75 0 0 1 0 0 ANKFN1 162282 broad.mit.edu 37 17 54554932 54554932 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:54554932G>A ENST00000566473.2 + 15 1866 c.1866G>A c.(1864-1866)gtG>gtA p.V622V ANKFN1_ENST00000318698.2_Silent_p.V622V Q8N957 ANKF1_HUMAN ankyrin-repeat and fibronectin type III domain containing 1 622 NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1) 53 GTAGCTCTGTGGATCAAATCA 0.388000 48 167 0 0 1 0 0 CTC-260E6.6 0 broad.mit.edu 37 19 20369289 20369289 + RNA SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:20369289G>A ENST00000593655.1 - 0 199 ACGAAATTGGGATGACACGAA 0.378000 69 139 0 0 1 0 0 YY1AP1 55249 broad.mit.edu 37 1 155629520 155629520 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:155629520G>A ENST00000368340.5 - 10 2643 c.2535C>T c.(2533-2535)tcC>tcT p.S845S YY1AP1_ENST00000407221.1_Silent_p.S696S|MSTO1_ENST00000452804.2_Intron|MSTO1_ENST00000538143.1_Intron|YY1AP1_ENST00000359205.5_Silent_p.S716S|YY1AP1_ENST00000361831.5_Silent_p.S716S|YY1AP1_ENST00000347088.5_Silent_p.S727S|YY1AP1_ENST00000311573.5_Silent_p.S696S|YY1AP1_ENST00000368339.5_Silent_p.S865S|YY1AP1_ENST00000535662.1_Silent_p.S573S|YY1AP1_ENST00000404643.1_Silent_p.S707S|YY1AP1_ENST00000295566.4_Silent_p.S773S|YY1AP1_ENST00000355499.4_Silent_p.S727S|YY1AP1_ENST00000368330.2_Silent_p.S727S NM_001198904.1 NP_001185833.1 YY1 associated protein 1 central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(7)|ovary(2)|skin(2)|urinary_tract(2) 31 Hepatocellular(266;0.0997)|all_hematologic(923;0.145) AATCCCCAGGGGAAGAGTTGT 0.502000 68 219 0 0 1 0 0 ST18 9705 broad.mit.edu 37 8 53084937 53084937 + Missense_Mutation SNP C C T rs147121734 by1000genomes TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:53084937C>T ENST00000276480.7 - 10 1167 c.484G>A c.(484-486)Gat>Aat p.D162N NM_014682.2 NP_055497.1 O60284 ST18_HUMAN suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein) 162 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 85 Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229) TCTGCTTCATCGCTCTCTGCT 0.388000 6 159 0 0 1 0 0 SLC22A15 55356 broad.mit.edu 37 1 116569517 116569517 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:116569517C>T ENST00000369503.4 + 5 732 c.602C>T c.(601-603)tCg>tTg p.S201L SLC22A15_ENST00000369502.1_Missense_Mutation_p.S201L NM_018420.2 NP_060890.2 Q8IZD6 S22AF_HUMAN solute carrier family 22, member 15 201 ion transport integral to membrane transmembrane transporter activity p.S201L(2) endometrium(1)|large_intestine(2)|lung(12)|prostate(1)|urinary_tract(1) 17 Lung SC(450;0.184) all_cancers(81;3.17e-06)|all_epithelial(167;2.32e-06)|all_lung(203;9.81e-06)|Lung NSC(69;5.94e-05) Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12) GAATTAGGATCGATTGGCGGC 0.498000 75 180 0 0 1 0 0 PLOD3 8985 broad.mit.edu 37 7 100855932 100855932 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:100855932G>A ENST00000223127.3 - 9 1282 c.884C>T c.(883-885)cCc>cTc p.P295L NM_001084.4 NP_001075.1 O60568 PLOD3_HUMAN procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3 295 protein modification process rough endoplasmic reticulum membrane iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(1) 31 Lung NSC(181;0.168)|all_lung(186;0.215) Succinic acid(DB00139)|Vitamin C(DB00126) CACCCGGGGGGGAGGCTGGAA 0.647000 25 69 0 0 1 0 0 IGHV1-18 28468 broad.mit.edu 37 14 106641795 106641795 + RNA SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr14:106641795G>A ENST00000390605.2 - 0 177 AGCCTTGCAGGAGACCTTCAC 0.582000 83 171 0 0 1 0 0 TNFRSF10C 8794 broad.mit.edu 37 8 22969254 22969254 + Missense_Mutation SNP A A G TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:22969254A>G ENST00000356864.3 + 2 614 c.82A>G c.(82-84)Act>Gct p.T28A TNFRSF10C_ENST00000540813.1_Intron|TNFRSF10C_ENST00000520607.1_3'UTR NM_003841.3 NP_003832.2 O14798 TR10C_HUMAN tumor necrosis factor receptor superfamily, member 10c, decoy without an intracellular domain 28 apoptosis anchored to membrane|integral to plasma membrane TRAIL binding|transmembrane receptor activity endometrium(1)|large_intestine(6)|lung(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2) 15 Prostate(55;0.0421)|Breast(100;0.067) Colorectal(74;0.0147)|COAD - Colon adenocarcinoma(73;0.0612) CTCTGCCACCACTGCCCGGCA 0.577000 13 21 0 0 1 0 0 LRFN1 57622 broad.mit.edu 37 19 39805302 39805302 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:39805302G>A ENST00000248668.4 - 1 674 c.675C>T c.(673-675)ctC>ctT p.L225L CTC-246B18.8_ENST00000601911.1_RNA NM_020862.1 NP_065913.1 Q9P244 LRFN1_HUMAN leucine rich repeat and fibronectin type III domain containing 1 225 cell junction|integral to membrane|postsynaptic density|postsynaptic membrane central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1) 18 all_cancers(60;1.85e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512) Epithelial(26;1.96e-27)|all cancers(26;2.05e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335) CGTCGGGCGGGAGTTTATGCA 0.667000 11 25 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179584073 179584073 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:179584073G>A ENST00000589042.1 - 83 24268 c.24044C>T c.(24043-24045)tCa>tTa p.S8015L TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.S7698L|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.S6771L|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 7698 Ig-like 62. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.S6771L(1) NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) CCAGCCAACTGAAATCGGGGC 0.502000 67 132 0 0 1 0 0 GOLGA8F 100132565 broad.mit.edu 37 15 28632753 28632753 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr15:28632753G>A ENST00000526619.2 + 14 1694 c.679G>A c.(679-681)Gga>Aga p.G227R GOLGA8F_ENST00000450328.2_Missense_Mutation_p.G223R|GOLGA8F_ENST00000337838.7_Intron|GOLGA8F_ENST00000532622.2_Missense_Mutation_p.G441R lung(4) 4 CCCAGGAGATGGAGGAGGACA 0.622000 11 52 0 0 1 0 0 HPGDS 27306 broad.mit.edu 37 4 95229886 95229886 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:95229886C>T ENST00000295256.5 - 4 325 c.235G>A c.(235-237)Gga>Aga p.G79R HPGDS_ENST00000514774.1_5'UTR NM_014485.2 NP_055300.1 O60760 HPGDS_HUMAN hematopoietic prostaglandin D synthase 79 GST N-terminal. locomotory behavior|prostaglandin biosynthetic process|signal transduction cytoplasm|nucleus calcium ion binding|glutathione transferase activity|magnesium ion binding|prostaglandin-D synthase activity|protein homodimerization activity breast(1)|cervix(1)|lung(3)|ovary(1)|urinary_tract(1) 7 Glutathione(DB00143) TCTGTGTTTCCAGCCAAATCT 0.338000 37 90 0 0 1 0 0 USP2 9099 broad.mit.edu 37 11 119243530 119243530 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:119243530G>A ENST00000260187.2 - 2 955 c.661C>T c.(661-663)Cct>Tct p.P221S USP2_ENST00000455332.2_Intron|RP11-334E6.3_ENST00000530918.2_RNA NM_004205.4 NP_004196.4 O75604 UBP2_HUMAN ubiquitin specific peptidase 2 221 cell cycle|muscle organ development|negative regulation of transcription from RNA polymerase II promoter|positive regulation of mitotic cell cycle|protein deubiquitination|protein stabilization|ubiquitin-dependent protein catabolic process nucleus|perinuclear region of cytoplasm cyclin binding|cysteine-type endopeptidase activity|metal ion binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity breast(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1) 24 all_hematologic(192;4.65e-05)|Breast(348;0.0101)|all_neural(223;0.0218)|Medulloblastoma(222;0.0425)|Renal(330;0.157) BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.000513)|Colorectal(284;0.0116)|Lung(307;0.0853)|LUSC - Lung squamous cell carcinoma(976;0.0889) ATGATTTCAGGGACTCGTGAG 0.647000 44 40 0 0 1 0 0 FIGN 55137 broad.mit.edu 37 2 164466426 164466426 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:164466426G>A ENST00000333129.3 - 3 2230 c.1916C>T c.(1915-1917)tCc>tTc p.S639F FIGN_ENST00000409634.1_Intron NM_018086.2 NP_060556.2 Q5HY92 FIGN_HUMAN fidgetin 639 nuclear matrix ATP binding|nucleoside-triphosphatase activity breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1) 47 CCTCCGAAGGGATTCATCTAT 0.438000 46 122 0 0 1 0 0 CSMD1 64478 broad.mit.edu 37 8 3224628 3224628 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:3224628C>T ENST00000602557.1 - 21 3599 c.3044G>A c.(3043-3045)gGa>gAa p.G1015E CSMD1_ENST00000602723.1_Missense_Mutation_p.G1015E|CSMD1_ENST00000537824.1_Missense_Mutation_p.G1014E|CSMD1_ENST00000400186.3_Missense_Mutation_p.G1015E|CSMD1_ENST00000539096.1_Missense_Mutation_p.G1014E|CSMD1_ENST00000542608.1_Missense_Mutation_p.G1014E|CSMD1_ENST00000520002.1_Missense_Mutation_p.G1015E Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 1015 CUB 6. integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) AGTGAAGTTTCCAAACAGGCC 0.473000 17 22 0 0 1 0 0 CDH9 1007 broad.mit.edu 37 5 26988375 26988375 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:26988375G>A ENST00000231021.4 - 2 238 c.66C>T c.(64-66)atC>atT p.I22I NM_016279.3 NP_057363.3 Q9ULB4 CADH9_HUMAN cadherin 9, type 2 (T1-cadherin) 22 adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 137 CTTGTAATAGGATGGTGTCAA 0.388000 38 34 0 0 1 0 0 KRT36 8689 broad.mit.edu 37 17 39643315 39643315 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:39643315G>A ENST00000393986.2 - 7 1157 c.945C>T c.(943-945)atC>atT p.I315I KRT36_ENST00000328119.6_Silent_p.I365I O76013 KRT36_HUMAN keratin 36 365 Coil 2.|Rod. T -> M (in dbSNP:rs2301354). intermediate filament protein binding|structural constituent of epidermis breast(2)|cervix(1)|kidney(2)|large_intestine(3)|lung(8)|skin(1) 17 Breast(137;0.000286) GGTCGCAGCGGATCTCAGACA 0.647000 74 150 0 0 1 0 0 LINC00202-2 731789 broad.mit.edu 37 10 26942048 26942048 + RNA SNP C C A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:26942048C>A ENST00000544033.1 + 0 5708 NR_026794.1 CCCGGCCCCCCAAGGCCCCAA 0.622000 3 5 6.4e-05 6.42126e-05 1 1 0 ANKRD29 147463 broad.mit.edu 37 18 21181243 21181243 + Missense_Mutation SNP T T A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr18:21181243T>A ENST00000592179.1 - 10 1007 c.853A>T c.(853-855)Aat>Tat p.N285Y ANKRD29_ENST00000322980.9_Missense_Mutation_p.N252Y|ANKRD29_ENST00000284207.7_Missense_Mutation_p.N252Y NM_173505.2 NP_775776.2 Q8N6D5 ANR29_HUMAN ankyrin repeat domain 29 285 breast(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|skin(1) 13 all_cancers(21;5.07e-05)|all_epithelial(16;2.49e-07)|Lung NSC(20;0.00211)|all_lung(20;0.00676)|Colorectal(14;0.0202)|Ovarian(20;0.127) ATACGTTCATTTTTGGTTAGT 0.433000 33 60 0 0 1 0 0 TRIM58 25893 broad.mit.edu 37 1 248039386 248039386 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:248039386G>A ENST00000366481.3 + 6 1104 c.1056G>A c.(1054-1056)gtG>gtA p.V352V OR2W3_ENST00000537741.1_Intron NM_015431.3 NP_056246.3 Q8NG06 TRI58_HUMAN tripartite motif containing 58 352 B30.2/SPRY. intracellular zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1) 63 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) all_cancers(173;0.0286) OV - Ovarian serous cystadenocarcinoma(106;0.0319) AGGTTCTGGTGGGAGAAGGAG 0.577000 23 90 0 0 1 0 0 DNAJC6 9829 broad.mit.edu 37 1 65845199 65845199 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:65845199C>T ENST00000395325.3 + 5 644 c.487C>T c.(487-489)Cac>Tac p.H163Y DNAJC6_ENST00000371069.4_Missense_Mutation_p.H220Y|DNAJC6_ENST00000263441.7_Missense_Mutation_p.H150Y NM_014787.3 NP_055602.1 O75061 AUXI_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 6 163 Phosphatase tensin-type. cellular membrane organization|post-Golgi vesicle-mediated transport cytosol heat shock protein binding|protein tyrosine phosphatase activity|SH3 domain binding NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(22)|ovary(1)|prostate(2)|skin(1) 39 CTGTGTTGTCCACTGCTTGGT 0.448000 9 267 0 0 1 0 0 DNAJC22 79962 broad.mit.edu 37 12 49742816 49742816 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:49742816G>A ENST00000549441.2 + 3 1365 c.161G>A c.(160-162)aGc>aAc p.S54N DNAJC22_ENST00000395069.3_Missense_Mutation_p.S54N Q8N4W6 DJC22_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 22 54 protein folding integral to membrane heat shock protein binding|unfolded protein binding breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|liver(2)|lung(1)|ovary(1)|pancreas(1) 10 AAGCTCCCAAGCTTTGTAGCT 0.632000 51 88 0 0 1 0 0 PARN 5073 broad.mit.edu 37 16 14687203 14687203 + Missense_Mutation SNP C C A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr16:14687203C>A ENST00000437198.2 - 13 1014 c.873G>T c.(871-873)ttG>ttT p.L291F PARN_ENST00000420015.2_Missense_Mutation_p.L245F|PARN_ENST00000341484.7_Missense_Mutation_p.L230F|PARN_ENST00000539279.1_Missense_Mutation_p.L116F NM_001134477.2|NM_002582.3 NP_001127949.1|NP_002573.1 O95453 PARN_HUMAN poly(A)-specific ribonuclease 291 female gamete generation|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|RNA modification cytosol|nucleolus metal ion binding|mRNA 3'-UTR binding|nucleotide binding|poly(A)-specific ribonuclease activity|protein binding cervix(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|urinary_tract(1) 21 GCATGACGTCCAAGAGCATAT 0.378000 17 30 1.40151e-16 1.414e-16 1 1 0 CCP110 9738 broad.mit.edu 37 16 19539266 19539266 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr16:19539266C>T ENST00000396212.2 + 3 499 c.63C>T c.(61-63)tcC>tcT p.S21S CCP110_ENST00000396208.2_Silent_p.S21S|CCP110_ENST00000381396.5_Silent_p.S21S NM_014711.4 NP_055526.3 O43303 CP110_HUMAN centriolar coiled coil protein 110kDa 21 CEP97 binding. centriole replication|G2/M transition of mitotic cell cycle|regulation of cytokinesis centriole|cytosol protein binding breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|stomach(3)|urinary_tract(1) 21 CATCACTATCCACAGAGAGCT 0.398000 35 57 0 0 1 0 0 CCDC17 149483 broad.mit.edu 37 1 46086106 46086106 + Splice_Site SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:46086106C>T ENST00000421127.2 - 13 1827 c.e13-1 CCDC17_ENST00000343901.2_Splice_Site|CCDC17_ENST00000445048.2_Splice_Site|CCDC17_ENST00000528266.1_Splice_Site NM_001114938.2|NM_001190182.1 NP_001108410.2|NP_001177111.1 Q96LX7 CCD17_HUMAN coiled-coil domain containing 17 kidney(1)|large_intestine(1)|lung(1)|ovary(2) 5 Acute lymphoblastic leukemia(166;0.155) TGCTGGACACCTGTGGAACAG 0.507000 6 13 0 0 1 0 0 ZNF530 348327 broad.mit.edu 37 19 58118474 58118474 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:58118474C>T ENST00000332854.6 + 3 1801 c.1581C>T c.(1579-1581)tcC>tcT p.S527S ZNF530_ENST00000597864.1_Intron NM_020880.3 NP_065931.3 Q6P9A1 ZN530_HUMAN zinc finger protein 530 527 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(6)|skin(1) 20 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0443)|Breast(46;0.0848)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257) GTGGGAAATCCTATAGCCAAA 0.448000 39 77 0 0 1 0 0 AGBL1 123624 broad.mit.edu 37 15 86838548 86838548 + Silent SNP T T C TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr15:86838548T>C ENST00000441037.2 + 16 2240 c.2145T>C c.(2143-2145)gtT>gtC p.V715V AGBL1_ENST00000389298.3_Silent_p.V446V|AGBL1_ENST00000421325.2_Silent_p.V715V NM_152336.2 NP_689549.2 Q96MI9 CBPC4_HUMAN ATP/GTP binding protein-like 1 715 C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis cytosol metallocarboxypeptidase activity|tubulin binding|zinc ion binding NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 62 GGCAAGATGTTCTCTGCCAGA 0.488000 34 53 0 0 1 0 0 CAPN6 827 broad.mit.edu 37 X 110489944 110489944 + Missense_Mutation SNP A A G TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chrX:110489944A>G ENST00000324068.1 - 13 1954 c.1787T>C c.(1786-1788)gTt>gCt p.V596A CAPN6_ENST00000541758.1_Missense_Mutation_p.V341A NM_014289.3 NP_055104.2 Q9Y6Q1 CAN6_HUMAN calpain 6 596 C2. microtubule bundle formation|proteolysis|regulation of cytoskeleton organization perinuclear region of cytoplasm|spindle microtubule calcium-dependent cysteine-type endopeptidase activity|microtubule binding cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(25)|ovary(3)|skin(3)|upper_aerodigestive_tract(1) 47 ATCCAGAGTAACCTGCCCCAA 0.522000 42 18 0 0 1 0 0 ATP6V0D2 245972 broad.mit.edu 37 8 87125970 87125970 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:87125970G>A ENST00000285393.3 + 2 305 c.163G>A c.(163-165)Ggt>Agt p.G55S CTD-3118D11.2_ENST00000522679.1_RNA NM_152565.1 NP_689778.1 Q8N8Y2 VA0D2_HUMAN ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d2 55 ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport apical plasma membrane|endosome membrane|proton-transporting V-type ATPase, V0 domain|vacuolar proton-transporting V-type ATPase complex hydrogen ion transmembrane transporter activity|protein binding breast(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(9)|prostate(1) 27 TACTGATTATGGTAACTTTTT 0.333000 87 131 0 0 1 0 0 TRMT10A 93587 broad.mit.edu 37 4 100480333 100480333 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:100480333C>T ENST00000273962.3 - 2 475 c.163G>A c.(163-165)Gaa>Aaa p.E55K TRMT10A_ENST00000394877.3_Missense_Mutation_p.E55K|TRMT10A_ENST00000394876.2_Missense_Mutation_p.E55K NM_152292.4 NP_689505.1 tRNA methyltransferase 10 homolog A (S. cerevisiae) CGTTGCTCTTCCCATTGTTTC 0.378000 42 140 0 0 1 0 0 TMEM63C 57156 broad.mit.edu 37 14 77703063 77703063 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr14:77703063G>A ENST00000298351.4 + 9 783 c.639G>A c.(637-639)agG>agA p.R213R NM_020431.2 NP_065164.2 Q9P1W3 TM63C_HUMAN transmembrane protein 63C 213 integral to membrane breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(1) 23 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0342) TTGCACCCAGGAATAGCCAAA 0.552000 29 91 0 0 1 0 0 FANCE 2178 broad.mit.edu 37 6 35423814 35423814 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:35423814C>T ENST00000229769.2 + 2 724 c.539C>T c.(538-540)tCc>tTc p.S180F NM_021922.2 NP_068741.1 Q9HB96 FANCE_HUMAN Fanconi anemia, complementation group E 180 Interaction with FANCC. DNA repair nucleoplasm protein binding NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|ovary(1)|skin(2) 13 AGGTTGAAATCCCCCCAGGCT 0.602000 """N, F, S""" """AML, leukemia""" Involved in tolerance or repair of DNA crosslinks Fanconi Anemia 17 54 0 0 1 0 0 LOC101927060 101927060 broad.mit.edu 37 17 45131464 45131464 + RNA SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:45131464G>A ENST00000575173.1 - 0 418 AGATACGTGGGAAACGGCTGC 0.478000 24 35 0 0 1 0 0 PCDHA5 56143 broad.mit.edu 37 5 140203682 140203682 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:140203682C>T ENST00000529859.1 + 1 2322 c.2322C>T c.(2320-2322)agC>agT p.S774S PCDHA5_ENST00000378126.3_Silent_p.S774S|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Silent_p.S774S|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron NM_018908.2 NP_061731.1 NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3) 60 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TCAGTCCAAGCCTTCCTCAGG 0.512000 34 49 0 0 1 0 0 ITGB8 3696 broad.mit.edu 37 7 20444412 20444412 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:20444412C>T ENST00000222573.3 + 11 2533 c.1849C>T c.(1849-1851)Ccc>Tcc p.P617S ITGB8_ENST00000537992.1_Missense_Mutation_p.P482S NM_002214.2 NP_002205.1 P26012 ITB8_HUMAN integrin, beta 8 617 Cysteine-rich tandem repeats. cell-matrix adhesion|integrin-mediated signaling pathway|placenta blood vessel development integrin complex protein binding|receptor activity NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(4)|stomach(2)|urinary_tract(1) 37 GTGCACCGATCCCAGGAGCAT 0.522000 25 66 0 0 1 0 0 FBXO24 26261 broad.mit.edu 37 7 100189438 100189438 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:100189438C>T ENST00000241071.6 + 4 793 c.471C>T c.(469-471)ttC>ttT p.F157F FBXO24_ENST00000498195.1_3'UTR|PCOLCE-AS1_ENST00000442166.2_RNA|FBXO24_ENST00000427939.2_Silent_p.F195F|FBXO24_ENST00000360609.2_Silent_p.F143F|FBXO24_ENST00000468962.1_Silent_p.F145F|FBXO24_ENST00000465843.1_Silent_p.F143F NM_033506.2 NP_277041.1 O75426 FBX24_HUMAN F-box protein 24 157 ubiquitin ligase complex ubiquitin-protein ligase activity NS(2)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(3)|skin(4)|urinary_tract(2) 28 Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439) CCCTCTTCTTCCTCAAAAATG 0.577000 75 183 0 0 1 0 0 LTF 4057 broad.mit.edu 37 3 46488886 46488886 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:46488886C>T ENST00000231751.4 - 10 1511 c.1216G>A c.(1216-1218)Gga>Aga p.G406R LTF_ENST00000426532.2_Missense_Mutation_p.G362R|LTF_ENST00000417439.1_Missense_Mutation_p.G404R NM_002343.3 NP_002334.2 P02788 TRFL_HUMAN lactotransferrin 406 Transferrin-like 2. cellular iron ion homeostasis|defense response to bacterium|humoral immune response|iron ion transport extracellular region|stored secretory granule ferric iron binding|heparin binding|protein binding|serine-type endopeptidase activity NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 40 all cancers(1;7.55e-14)|GBM - Glioblastoma multiforme(1;2.1e-09)|Epithelial(1;9.25e-07)|Colorectal(1;3.81e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00129)|COAD - Colon adenocarcinoma(1;0.00308)|KIRC - Kidney renal clear cell carcinoma(197;0.0205)|Kidney(197;0.0242)|OV - Ovarian serous cystadenocarcinoma(275;0.089) Pefloxacin(DB00487) TCAGCTTCTCCTTTCTGCAAA 0.493000 42 132 0 0 1 0 0 MAP3K9 4293 broad.mit.edu 37 14 71197460 71197460 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr14:71197460C>T ENST00000554752.2 - 12 2951 c.2952G>A c.(2950-2952)gaG>gaA p.E984E MAP3K9_ENST00000555993.2_Silent_p.E998E|MAP3K9_ENST00000553414.1_Silent_p.E717E|MAP3K9_ENST00000381250.4_Silent_p.E961E|MAP3K9_ENST00000554146.1_Silent_p.E712E P80192 M3K9_HUMAN mitogen-activated protein kinase kinase kinase 9 984 activation of JUN kinase activity|protein autophosphorylation ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2) 46 all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08) TCTTGGGTCTCTCCAAGGTAG 0.632000 30 62 0 0 1 0 0 NINJ1 4814 broad.mit.edu 37 9 95888692 95888692 + Splice_Site SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:95888692C>T ENST00000375446.4 - 2 374 c.304_splice c.e2+1 p.V102_splice NM_004148.3 NP_004139.2 Q92982 NINJ1_HUMAN ninjurin 1 102 cell adhesion|nervous system development|tissue regeneration integral to membrane kidney(1)|large_intestine(2)|upper_aerodigestive_tract(1) 4 GGGGACCTACCAAGGAAGATG 0.637000 23 41 0 0 1 0 0 PIK3CD 5293 broad.mit.edu 37 1 9781628 9781628 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:9781628C>T ENST00000536656.1 + 15 2218 c.2010C>T c.(2008-2010)ttC>ttT p.F670F PIK3CD_ENST00000361110.2_Silent_p.F670F|PIK3CD_ENST00000543390.1_Silent_p.F313F|PIK3CD_ENST00000377346.4_Silent_p.F646F O00329 PK3CD_HUMAN phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta 646 phosphatidylinositol-mediated signaling|protein phosphorylation phosphatidylinositol 3-kinase complex|plasma membrane 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 31 all_lung(157;0.222) all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0231)|Colorectal(212;7.52e-08)|COAD - Colon adenocarcinoma(227;1.78e-05)|Kidney(185;0.000322)|KIRC - Kidney renal clear cell carcinoma(229;0.00114)|BRCA - Breast invasive adenocarcinoma(304;0.0021)|STAD - Stomach adenocarcinoma(132;0.00395)|READ - Rectum adenocarcinoma(331;0.0419) TCGGCCACTTCCTTTTCTGGC 0.627000 OREG0013082 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 77 0 0 1 0 0 CWH43 80157 broad.mit.edu 37 4 49034722 49034722 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:49034722G>A ENST00000226432.4 + 12 1831 c.1648G>A c.(1648-1650)Ggg>Agg p.G550R CWH43_ENST00000513409.1_Missense_Mutation_p.G523R NM_025087.2 NP_079363.2 Q9H720 PG2IP_HUMAN cell wall biogenesis 43 C-terminal homolog (S. cerevisiae) 550 GPI anchor biosynthetic process integral to membrane cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1) 43 GACACACTTTGGGAACCACGA 0.443000 59 80 0 0 1 0 0 GPR155 151556 broad.mit.edu 37 2 175324680 175324680 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:175324680C>T ENST00000392552.2 - 10 1935 c.1697G>A c.(1696-1698)gGa>gAa p.G566E GPR155_ENST00000392551.2_Missense_Mutation_p.G566E|GPR155_ENST00000295500.4_Missense_Mutation_p.G566E NM_001267051.1|NM_152529.6 NP_001253980.1|NP_689742.4 Q7Z3F1 GP155_HUMAN G protein-coupled receptor 155 566 intracellular signal transduction|transmembrane transport integral to membrane breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2) 26 AGCAGTATTTCCAGGCTCCAC 0.418000 9 134 0 0 1 0 0 DDIT4L 115265 broad.mit.edu 37 4 101108941 101108941 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:101108941G>A ENST00000273990.2 - 3 689 c.475C>T c.(475-477)Cgc>Tgc p.R159C RP11-15B17.1_ENST00000515026.1_RNA NM_145244.3 NP_660287.1 Q96D03 DDT4L_HUMAN DNA-damage-inducible transcript 4-like 159 negative regulation of signal transduction cytoplasm breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(2) 12 OV - Ovarian serous cystadenocarcinoma(123;5.75e-09) GAGGAGAAGCGACCTCTACTA 0.428000 40 66 0 0 1 0 0 WIF1 11197 broad.mit.edu 37 12 65471609 65471609 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:65471609G>A ENST00000286574.4 - 3 688 c.314C>T c.(313-315)tCc>tTc p.S105F NM_007191.4 NP_009122.2 Q9Y5W5 WIF1_HUMAN WNT inhibitory factor 1 105 WIF. multicellular organismal development|Wnt receptor signaling pathway extracellular region protein tyrosine kinase activity cervix(1)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1) 21 LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975) GBM - Glioblastoma multiforme(28;0.0231) GGAGCGCAAGGACAGGAATTC 0.502000 T HMGA2 pleomorphic salivary gland adenoma 8 35 0 0 1 0 0 KCNS1 3787 broad.mit.edu 37 20 43726845 43726845 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr20:43726845C>T ENST00000306117.1 - 4 964 c.568G>A c.(568-570)Gaa>Aaa p.E190K KCNS1_ENST00000537075.1_Missense_Mutation_p.E190K NM_002251.3 NP_002242.2 Q96KK3 KCNS1_HUMAN potassium voltage-gated channel, delayed-rectifier, subfamily S, member 1 190 voltage-gated potassium channel complex delayed rectifier potassium channel activity|potassium channel regulator activity|protein binding endometrium(1)|lung(3)|ovary(1)|stomach(1) 6 Myeloproliferative disorder(115;0.0122) CGCGCCAGTTCTCGCTGCACG 0.716000 5 24 0 0 1 0 0 FHIT 2272 broad.mit.edu 37 3 59908118 59908118 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:59908118G>A ENST00000468189.1 - 8 672 c.302C>T c.(301-303)cCc>cTc p.P101L FHIT_ENST00000476844.1_Missense_Mutation_p.P101L|FHIT_ENST00000492590.1_Missense_Mutation_p.P101L|FHIT_ENST00000466788.1_5'UTR|FHIT_ENST00000341848.4_Missense_Mutation_p.P101L P49789 FHIT_HUMAN fragile histidine triad 101 HIT. nucleotide metabolic process bis(5'-adenosyl)-triphosphatase activity|protein binding NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)|prostate(1)|stomach(1) 12 all_cancers(2;2.37e-314)|all_epithelial(2;5.17e-286)|Colorectal(2;1.24e-68)|all_lung(2;1.31e-45)|Lung NSC(2;1.79e-44)|all_hematologic(2;1.59e-23)|Renal(2;1.03e-13)|Breast(2;1.06e-10)|Esophageal squamous(2;6.31e-09)|Melanoma(2;1.83e-07)|Acute lymphoblastic leukemia(2;5.46e-05)|all_neural(2;0.00118)|Medulloblastoma(2;0.00263)|Hepatocellular(2;0.0245)|Ovarian(2;0.0408) UCEC - Uterine corpus endometrioid carcinoma (45;0.0887)|Epithelial(1;9.28e-70)|all cancers(1;3.07e-60)|Colorectal(1;2.33e-53)|STAD - Stomach adenocarcinoma(1;7.22e-48)|COAD - Colon adenocarcinoma(3;1.05e-44)|READ - Rectum adenocarcinoma(3;2.41e-08)|KIRC - Kidney renal clear cell carcinoma(10;0.000109)|Kidney(10;0.000125)|Lung(1;0.000161)|LUSC - Lung squamous cell carcinoma(1;0.000742)|OV - Ovarian serous cystadenocarcinoma(275;0.00372)|BRCA - Breast invasive adenocarcinoma(55;0.00448) AGCCTTCCTGGGAAGAACATG 0.433000 T HMGA2 pleomorphic salivary gland adenoma Renal Cell Cancer associated with constitutional translocation of chromosome 3 32 50 0 0 1 0 0 KIR2DL3 3804 broad.mit.edu 37 19 55263188 55263188 + Nonsense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:55263188G>A ENST00000342376.3 + 6 834 c.803G>A c.(802-804)tGg>tAg p.W268* CTB-61M7.1_ENST00000400864.3_RNA|KIR2DL4_ENST00000396284.2_Intron|KIR2DL3_ENST00000434419.2_Intron|KIR3DL1_ENST00000402254.2_Intron|KIR3DL1_ENST00000538269.1_Intron|KIR3DL1_ENST00000541392.1_Intron NM_015868.2 NP_056952.2 killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 3 breast(1)|cervix(1)|large_intestine(1)|lung(11)|ovary(3)|pancreas(1)|skin(2)|urinary_tract(1) 21 GBM - Glioblastoma multiforme(193;0.0192) cttcATCGCTGGTGCTGCAAC 0.527000 43 83 0 0 1 0 0 UBE2Z 65264 broad.mit.edu 37 17 46993504 46993504 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:46993504C>T ENST00000360943.5 + 4 780 c.645C>T c.(643-645)tcC>tcT p.S215S NM_023079.4 NP_075567.2 Q9H832 UBE2Z_HUMAN ubiquitin-conjugating enzyme E2Z 215 apoptosis cytoplasm|nucleus ATP binding|ubiquitin-protein ligase activity CTATCCAGTCCCTGATGACTG 0.527000 23 52 0 0 1 0 0 FAM83B 222584 broad.mit.edu 37 6 54805017 54805017 + Nonsense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:54805017G>A ENST00000306858.7 + 5 1364 c.1248G>A c.(1246-1248)tgG>tgA p.W416* NM_001010872.1 NP_001010872.1 Q5T0W9 FA83B_HUMAN family with sequence similarity 83, member B 416 autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1) 71 Lung NSC(77;0.0178)|Renal(3;0.122) CTGGTAATTGGAAAAAGCCAT 0.488000 5 120 0 0 1 0 0 LMAN1L 79748 broad.mit.edu 37 15 75111537 75111537 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr15:75111537C>T ENST00000309664.5 + 6 781 c.642C>T c.(640-642)ttC>ttT p.F214F LMAN1L_ENST00000379709.3_Silent_p.F214F NM_021819.2 NP_068591.2 Q9HAT1 LMA1L_HUMAN lectin, mannose-binding, 1 like 214 L-type lectin-like. ER-Golgi intermediate compartment membrane|integral to membrane sugar binding NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 CAGGTGAGTTCTGTGTGGATG 0.597000 55 117 0 0 1 0 0 XIRP2 129446 broad.mit.edu 37 2 168107877 168107877 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:168107877C>T ENST00000409195.1 + 9 10064 c.9975C>T c.(9973-9975)ttC>ttT p.F3325F XIRP2_ENST00000295237.9_Silent_p.F3325F|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409273.1_Silent_p.F3103F NM_152381.5 NP_689594.4 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 3150 actin cytoskeleton organization cell junction actin binding NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7) 315 CTGAAAATTTCGTGAATGACC 0.448000 47 103 0 0 1 0 0 TBC1D17 79735 broad.mit.edu 37 19 50385653 50385653 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:50385653C>T ENST00000221543.5 + 7 1093 c.794C>T c.(793-795)tCc>tTc p.S265F TBC1D17_ENST00000535102.2_Missense_Mutation_p.S232F NM_024682.2 NP_078958.2 Q9HA65 TBC17_HUMAN TBC1 domain family, member 17 265 intracellular Rab GTPase activator activity NS(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 15 all_lung(116;0.000338)|Lung NSC(112;0.000446)|all_neural(266;0.107)|Ovarian(192;0.231) GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.017) GAGGTCATTTCCTGTGTGAGT 0.592000 48 99 0 0 1 0 0 DPYSL4 10570 broad.mit.edu 37 10 134017392 134017392 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:134017392C>T ENST00000338492.4 + 13 1752 c.1588C>T c.(1588-1590)Cct>Tct p.P530S DPYSL4_ENST00000368627.1_Missense_Mutation_p.P370S|DPYSL4_ENST00000368629.1_Missense_Mutation_p.P370S NM_006426.2 NP_006417.2 O14531 DPYL4_HUMAN dihydropyrimidinase-like 4 530 axon guidance|pyrimidine base catabolic process cytosol hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 32 all_cancers(35;4.33e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19) OV - Ovarian serous cystadenocarcinoma(35;7.21e-05)|Epithelial(32;8.01e-05)|all cancers(32;9.29e-05)|BRCA - Breast invasive adenocarcinoma(275;0.206) CTCCGTCCCTCCTGTGCGCAA 0.672000 11 164 0 0 1 0 0 TXNDC8 255220 broad.mit.edu 37 9 113088478 113088478 + Nonsense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:113088478G>A ENST00000374507.4 - 3 222 c.172C>T c.(172-174)Cag>Tag p.Q58* TXNDC8_ENST00000374510.4_Nonsense_Mutation_p.Q78*|TXNDC8_ENST00000423740.2_Nonsense_Mutation_p.Q58*|TXNDC8_ENST00000374511.3_Nonsense_Mutation_p.Q78* Q6A555 TXND8_HUMAN thioredoxin domain containing 8 (spermatozoa) 78 Thioredoxin. cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis Golgi apparatus electron carrier activity|protein disulfide oxidoreductase activity endometrium(1)|large_intestine(1)|lung(1)|prostate(1) 4 TTGAACATCTGAAATGTGGGT 0.433000 86 186 0 0 1 0 0 CDH18 1016 broad.mit.edu 37 5 19473568 19473568 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:19473568C>T ENST00000507958.1 - 15 3130 c.2140G>A c.(2140-2142)Gaa>Aaa p.E714K CDH18_ENST00000274170.4_Missense_Mutation_p.E714K|CDH18_ENST00000510297.1_5'UTR|CDH18_ENST00000382275.1_Missense_Mutation_p.E714K Q13634 CAD18_HUMAN cadherin 18, type 2 714 adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1) 138 Lung NSC(1;0.00734)|all_lung(1;0.0197) TTAATAAATTCCTGAACATCT 0.493000 31 66 0 0 1 0 0 SPANXN1 494118 broad.mit.edu 37 X 144337224 144337224 + Missense_Mutation SNP G G A rs143004346 byFrequency TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chrX:144337224G>A ENST00000370493.3 + 2 868 c.109G>A c.(109-111)Gaa>Aaa p.E37K NM_001009614.2 NP_001009614.1 Q5VSR9 SPXN1_HUMAN SPANX family, member N1 37 p.E37K(2) endometrium(2)|kidney(2)|lung(8)|prostate(1)|urinary_tract(1) 14 Acute lymphoblastic leukemia(192;6.56e-05) CTTAGCCCCCGAACCGAGTTT 0.403000 44 24 0 0 1 0 0 CRBN 51185 broad.mit.edu 37 3 3216933 3216933 + Missense_Mutation SNP C C T rs78564552 byFrequency TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:3216933C>T ENST00000231948.4 - 2 110 c.88G>A c.(88-90)Gaa>Aaa p.E30K CRBN_ENST00000432408.2_Missense_Mutation_p.E29K NM_016302.3 NP_057386.2 Q96SW2 CRBN_HUMAN cereblon 30 proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination Cul4A-RING ubiquitin ligase complex|cytoplasm|membrane|nucleus ATP-dependent peptidase activity|protein binding endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 11 Epithelial(13;0.00244)|OV - Ovarian serous cystadenocarcinoma(96;0.00617)|all cancers(10;0.0079) ACTTCCATTTCATCTTCTTCC 0.323000 53 112 0 0 1 0 0 ACSL4 2182 broad.mit.edu 37 X 108911467 108911467 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chrX:108911467C>T ENST00000340800.2 - 12 1805 c.1301G>A c.(1300-1302)gGg>gAg p.G434E ACSL4_ENST00000469796.2_Missense_Mutation_p.G434E|ACSL4_ENST00000348502.6_Missense_Mutation_p.G393E NM_022977.2 NP_075266.1 O60488 ACSL4_HUMAN acyl-CoA synthetase long-chain family member 4 434 fatty acid metabolic process|learning or memory|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane ATP binding|long-chain fatty acid-CoA ligase activity breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(2) 22 Icosapent(DB00159)|Troglitazone(DB00197) GCGGACATTCCCTCCCAGCAG 0.458000 48 15 0 0 1 0 0 KMT2C 58508 broad.mit.edu 37 7 151853113 151853113 + Nonsense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:151853113G>A ENST00000355193.2 - 47 12231 c.12013C>T c.(12013-12015)Cag>Tag p.Q4005* KMT2C_ENST00000262189.6_Nonsense_Mutation_p.Q3948* lysine (K)-specific methyltransferase 2C AAGGGCAGCTGAAATGGTTTA 0.453000 42 121 0 0 1 0 0 PLEKHH1 57475 broad.mit.edu 37 14 68029127 68029127 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr14:68029127G>A ENST00000329153.5 + 7 911 c.779G>A c.(778-780)gGa>gAa p.G260E NM_020715.2 NP_065766.1 Q9ULM0 PKHH1_HUMAN pleckstrin homology domain containing, family H (with MyTH4 domain) member 1 260 cytoskeleton binding p.G299V(1)|p.G260V(1) endometrium(2)|kidney(4)|lung(12)|urinary_tract(1) 19 all cancers(60;0.000771)|OV - Ovarian serous cystadenocarcinoma(108;0.00502)|BRCA - Breast invasive adenocarcinoma(234;0.011) CCTCATCTGGGAAGAGAGAGC 0.542000 30 68 0 0 1 0 0 ARPP21 10777 broad.mit.edu 37 3 35729278 35729278 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:35729278G>A ENST00000187397.4 + 6 765 c.309G>A c.(307-309)gaG>gaA p.E103E ARPP21_ENST00000458225.1_Silent_p.E103E|ARPP21_ENST00000444190.1_Silent_p.E103E|ARPP21_ENST00000417925.1_Silent_p.E103E|ARPP21_ENST00000337271.5_Silent_p.E103E NM_016300.4 NP_057384.2 Q9UBL0 ARP21_HUMAN cAMP-regulated phosphoprotein, 21kDa 103 cytoplasm nucleic acid binding cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 61 TGCAAGAGGAGGATAAATCTA 0.348000 16 165 0 0 1 0 0 KMT2C 58508 broad.mit.edu 37 7 151945207 151945207 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:151945207G>A ENST00000355193.2 - 14 2530 c.2312C>T c.(2311-2313)tCa>tTa p.S771L KMT2C_ENST00000262189.6_Missense_Mutation_p.S771L lysine (K)-specific methyltransferase 2C TGCTGATGATGAAAATGATGA 0.423000 7 316 0 0 1 0 0 DLK1 8788 broad.mit.edu 37 14 101200614 101200614 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr14:101200614C>T ENST00000341267.4 + 5 775 c.533C>T c.(532-534)cCa>cTa p.P178L DLK1_ENST00000331224.6_Missense_Mutation_p.P178L NM_003836.5 NP_003827.3 P80370 DLK1_HUMAN delta-like 1 homolog (Drosophila) 178 EGF-like 5. multicellular organismal development extracellular space|integral to membrane|soluble fraction breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(16)|ovary(2)|prostate(1)|skin(1) 29 Melanoma(154;0.155) ACCCCCAACCCATGCGAGAAC 0.657000 6 161 0 0 1 0 0 OR52A4P 390053 broad.mit.edu 37 11 5142419 5142419 + RNA SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:5142419G>A ENST00000498233.1 - 0 979 breast(1)|endometrium(2)|kidney(1)|lung(12)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1) 22 Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675) Epithelial(150;1.7e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2) GAGGATAACAGATCGCTACAC 0.478000 28 20 0 0 1 0 0 PIK3C2B 5287 broad.mit.edu 37 1 204401418 204401418 + Silent SNP G G T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:204401418G>T ENST00000367187.3 - 28 4621 c.4065C>A c.(4063-4065)gcC>gcA p.A1355A RP11-739N20.2_ENST00000443515.1_RNA|PIK3C2B_ENST00000424712.2_Silent_p.A1327A NM_002646.3 NP_002637.3 O00750 P3C2B_HUMAN phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta 1355 cell communication|phosphatidylinositol-mediated signaling endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 52 all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227) GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193) GTGTTCGGGAGGCAAAGGAGA 0.507000 77 99 1.45978e-39 1.47772e-39 1 1 0 PPP4R1 9989 broad.mit.edu 37 18 9557371 9557371 + Nonsense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr18:9557371G>A ENST00000400556.3 - 15 2111 c.2038C>T c.(2038-2040)Cga>Tga p.R680* PPP4R1_ENST00000400555.3_Nonsense_Mutation_p.R663* NM_001042388.2 NP_001035847.1 Q8TF05 PP4R1_HUMAN protein phosphatase 4, regulatory subunit 1 680 protein phosphorylation|signal transduction protein phosphatase 4 complex protein binding|protein phosphatase type 4 regulator activity large_intestine(1)|skin(2) 3 AGAGTTCGTCGAACTTTCCAC 0.358000 63 155 0 0 1 0 0 CRLF2 64109 broad.mit.edu 37 X 1317552 1317552 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chrX:1317552G>A ENST00000381567.3 - 5 512 c.513C>T c.(511-513)acC>acT p.T171T CRLF2_ENST00000467626.1_Intron NM_022148.2 NP_071431.2 Q9HC73 CRLF2_HUMAN cytokine receptor-like factor 2 171 Fibronectin type-III. extracellular region|integral to membrane|plasma membrane receptor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(10)|lung(9) 20 all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186) AGCCTTCTATGGTGACGTTGC 0.478000 """Mis, T""" """P2RY8, IGH@""" """B-ALL, Downs associated ALL""" 38 25 0 0 1 0 0 KEL 3792 broad.mit.edu 37 7 142649676 142649676 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:142649676G>A ENST00000355265.2 - 10 1597 c.1123C>T c.(1123-1125)Cca>Tca p.P375S KEL_ENST00000479768.2_5'UTR NM_000420.2 NP_000411.1 P23276 KELL_HUMAN Kell blood group, metallo-endopeptidase 375 proteolysis|vasoconstriction integral to membrane|plasma membrane metal ion binding|metalloendopeptidase activity|protein binding central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1) 60 Melanoma(164;0.059) TCCAGGGCTGGAGAAAGGGTC 0.552000 5 118 0 0 1 0 0 ZNF331 55422 broad.mit.edu 37 19 54074907 54074907 + Missense_Mutation SNP G G T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:54074907G>T ENST00000253144.9 + 6 1392 c.59G>T c.(58-60)tGg>tTg p.W20L ZNF331_ENST00000513999.1_Missense_Mutation_p.W20L|ZNF331_ENST00000513265.1_Missense_Mutation_p.W20L|ZNF331_ENST00000511593.2_Missense_Mutation_p.W20L|ZNF331_ENST00000511154.1_Missense_Mutation_p.W20L|ZNF331_ENST00000411977.2_Missense_Mutation_p.W20L|ZNF331_ENST00000449416.1_Missense_Mutation_p.W20L|ZNF331_ENST00000512387.1_Missense_Mutation_p.W20L NM_001253801.1|NM_018555.5 NP_001240730.1|NP_061025.5 Q9NQX6 ZN331_HUMAN zinc finger protein 331 20 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 10 GBM - Glioblastoma multiforme(134;0.00555) CAGGAGGAGTGGGCCTGTCTG 0.512000 T ? follicular thyroid adenoma 140 259 2.40396e-54 2.43498e-54 1 1 0 CHRNA2 1135 broad.mit.edu 37 8 27319168 27319168 + Missense_Mutation SNP G G A rs145238683 TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:27319168G>A ENST00000407991.1 - 7 2176 c.1568C>T c.(1567-1569)cCg>cTg p.P523L CHRNA2_ENST00000240132.2_Missense_Mutation_p.P508L|CHRNA2_ENST00000520933.2_Missense_Mutation_p.P523L NM_000742.3 NP_000733.2 Q15822 ACHA2_HUMAN cholinergic receptor, nicotinic, alpha 2 (neuronal) 523 cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 23 Ovarian(32;2.61e-05) UCEC - Uterine corpus endometrioid carcinoma (27;0.0208)|Epithelial(17;2.77e-10)|Colorectal(74;0.136) Atracurium(DB00732)|Biperiden(DB00810)|Carbachol(DB00411)|Cisatracurium Besylate(DB00565)|Decamethonium(DB01245)|Dextromethorphan(DB00514)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Gallamine Triethiodide(DB00483)|Levallorphan(DB00504)|Mecamylamine(DB00657)|Metocurine Iodide(DB00416)|Metocurine(DB01336)|Mivacurium(DB01226)|Nicotine(DB00184)|Pancuronium(DB01337)|Pipecuronium(DB01338)|Rocuronium(DB00728)|Tubocurarine(DB01199) AGCTAGGAACGGAGGCAGAAA 0.567000 70 94 0 0 1 0 0 OSBPL6 114880 broad.mit.edu 37 2 179201082 179201082 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:179201082C>T ENST00000190611.4 + 9 1088 c.712C>T c.(712-714)Cct>Tct p.P238S OSBPL6_ENST00000409045.3_Missense_Mutation_p.P238S|OSBPL6_ENST00000409631.1_Missense_Mutation_p.P238S|OSBPL6_ENST00000315022.2_Missense_Mutation_p.P217S|OSBPL6_ENST00000359685.3_Missense_Mutation_p.P238S|OSBPL6_ENST00000357080.4_Missense_Mutation_p.P238S|OSBPL6_ENST00000392505.2_Missense_Mutation_p.P238S NM_032523.3 NP_115912.1 Q9BZF3 OSBL6_HUMAN oxysterol binding protein-like 6 238 lipid transport lipid binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(18)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 46 OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335) CAATAGCCTCCCTGCAACGTG 0.493000 104 222 0 0 1 0 0 CPNE4 131034 broad.mit.edu 37 3 131261425 131261425 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:131261425G>A ENST00000512055.1 - 19 3641 c.1515C>T c.(1513-1515)ttC>ttT p.F505F CPNE4_ENST00000512332.1_Silent_p.F523F|CPNE4_ENST00000511604.1_Silent_p.F505F|CPNE4_ENST00000502818.1_Silent_p.F523F|CPNE4_ENST00000429747.1_Silent_p.F505F Q96A23 CPNE4_HUMAN copine IV 505 VWFA. central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|liver(1)|lung(16)|prostate(2)|skin(3)|upper_aerodigestive_tract(3) 39 TGAAGGGCACGAACTGGACGA 0.507000 4 95 0 0 1 0 0 PKHD1L1 93035 broad.mit.edu 37 8 110534478 110534478 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:110534478G>A ENST00000378402.5 + 74 12199 c.12095G>A c.(12094-12096)gGa>gAa p.G4032E NM_177531.4 NP_803875.2 Q86WI1 PKHL1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 4032 immune response cytosol|extracellular space|integral to membrane receptor activity NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4) 263 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) GTAATTTTAGGAAACATCAGT 0.393000 HNSCC(38;0.096) 19 48 0 0 1 0 0 C1R 715 broad.mit.edu 37 12 7244215 7244215 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:7244215G>A ENST00000542285.1 - 2 210 c.61C>T c.(61-63)Cct>Tct p.P21S P00736 C1R_HUMAN complement component 1, r subcomponent 22 CUB 1. complement activation, classical pathway|innate immune response|proteolysis extracellular region calcium ion binding|serine-type endopeptidase activity endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|pancreas(1) 16 Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072) AACTTCTGAGGGATGGGAATG 0.547000 4 9 0 0 1 0 0 MGAM 8972 broad.mit.edu 37 7 141795449 141795449 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:141795449C>T ENST00000475668.2 + 64 7597 c.7543C>T c.(7543-7545)Ctg>Ttg p.L2515L MGAM_ENST00000549489.2_Silent_p.L1619L O43451 MGA_HUMAN maltase-glucoamylase (alpha-glucosidase) 1619 polysaccharide digestion|starch catabolic process apical plasma membrane|integral to membrane carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2) 13 Melanoma(164;0.0272) Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878) GTTGCCATATCTGTATACCTT 0.502000 8 364 0 0 1 0 0 IL17RE 132014 broad.mit.edu 37 3 9956216 9956216 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:9956216G>A ENST00000454190.2 + 14 1439 c.1354G>A c.(1354-1356)Ggc>Agc p.G452S IL17RE_ENST00000383814.3_Intron|IL17RE_ENST00000295980.3_Intron|IL17RE_ENST00000421412.1_Intron NM_001193380.1 NP_001180309.1 Q8NFR9 I17RE_HUMAN interleukin 17 receptor E 0 cytoplasm|extracellular region|integral to membrane receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(11)|skin(1) 21 OV - Ovarian serous cystadenocarcinoma(96;5.34e-64) AGGGGTGGGGGGCTCTGTGCC 0.617000 45 178 0 0 1 0 0 ZNF681 148213 broad.mit.edu 37 19 23928065 23928065 + Missense_Mutation SNP T T C TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:23928065T>C ENST00000402377.3 - 4 428 c.287A>G c.(286-288)cAa>cGa p.Q96R ZNF681_ENST00000395385.3_Missense_Mutation_p.Q27R NM_138286.2 NP_612143.2 Q96N22 ZN681_HUMAN zinc finger protein 681 96 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(3) 21 all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206) TGTCACTTTTTGGAAAGAATC 0.328000 11 24 0 0 1 0 0 LRRCC1 85444 broad.mit.edu 37 8 86050467 86050467 + Silent SNP A A G TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:86050467A>G ENST00000414626.2 + 15 3520 c.2631A>G c.(2629-2631)agA>agG p.R877R LRRCC1_ENST00000360375.3_Silent_p.R897R Q9C099 LRCC1_HUMAN leucine rich repeat and coiled-coil centrosomal protein 1 897 cell division|mitosis centriole|nucleus breast(3)|central_nervous_system(1)|endometrium(4)|kidney(9)|large_intestine(7)|lung(16)|skin(1)|upper_aerodigestive_tract(2) 43 AAGAAATCAGAAAAGCTTACA 0.299000 24 32 0 0 1 0 0 DNAH9 1770 broad.mit.edu 37 17 11522984 11522984 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:11522984G>A ENST00000262442.3 + 6 1304 c.1236G>A c.(1234-1236)agG>agA p.R412R DNAH9_ENST00000579406.1_3'UTR|DNAH9_ENST00000454412.2_Silent_p.R412R NM_001372.3 NP_001363.2 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 412 Stem (By similarity). cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4) 290 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) AGGACAGAAGGGAGAATCTCC 0.458000 67 152 0 0 1 0 0 SPTB 6710 broad.mit.edu 37 14 65264557 65264557 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr14:65264557C>T ENST00000389722.3 - 9 1125 c.1072G>A c.(1072-1074)Gag>Aag p.E358K SPTB_ENST00000556626.1_Missense_Mutation_p.E358K|SPTB_ENST00000389720.3_Missense_Mutation_p.E358K|SPTB_ENST00000389721.5_Missense_Mutation_p.E358K|SPTB_ENST00000542895.1_Missense_Mutation_p.E358K NM_001024858.2 NP_001020029.1 P11277 SPTB1_HUMAN spectrin, beta, erythrocytic 358 actin filament capping|axon guidance cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton actin filament binding|structural constituent of cytoskeleton breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3) 106 all_lung(585;4.15e-09) all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628) TTCCCCTTCTCTTGAAACCTG 0.433000 5 143 0 0 1 0 0 EXD3 54932 broad.mit.edu 37 9 140243569 140243569 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:140243569G>A ENST00000340951.4 - 16 2018 c.1823C>T c.(1822-1824)cCc>cTc p.P608L EXD3_ENST00000342129.4_Missense_Mutation_p.P288L NM_017820.3 NP_060290.3 Q8N9H8 MUT7_HUMAN exonuclease 3'-5' domain containing 3 608 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process intracellular 3'-5' exonuclease activity|nucleic acid binding NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(2) 12 CACCTGCCTGGGTGCGGCCGG 0.647000 4 26 0 0 1 0 0 PDE3A 5139 broad.mit.edu 37 12 20786656 20786656 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:20786656C>T ENST00000359062.3 + 7 1830 c.1790C>T c.(1789-1791)cCt>cTt p.P597L PDE3A_ENST00000544307.1_3'UTR NM_000921.4|NM_001244683.1 NP_000912.3|NP_001231612.1 Q14432 PDE3A_HUMAN phosphodiesterase 3A, cGMP-inhibited 597 lipid metabolic process|platelet activation|signal transduction cytosol|integral to membrane 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 58 Esophageal squamous(101;0.125) Breast(259;0.134) Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277) CAAGGGAATCCTGCTGATGAG 0.448000 13 33 0 0 1 0 0 KIAA0586 9786 broad.mit.edu 37 14 58954797 58954797 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr14:58954797C>T ENST00000423743.3 + 24 3623 c.3365C>T c.(3364-3366)tCa>tTa p.S1122L KIAA0586_ENST00000556134.1_Missense_Mutation_p.S1151L|KIAA0586_ENST00000538571.2_3'UTR|KIAA0586_ENST00000354386.6_Missense_Mutation_p.S1219L|KIAA0586_ENST00000261244.5_Missense_Mutation_p.S1090L NM_001244191.1|NM_001244192.1 NP_001231120.1|NP_001231121.1 E9PGW8 E9PGW8_HUMAN KIAA0586 1090 endometrium(4)|kidney(6)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 AACCCTAACTCACCTCAAGAA 0.398000 5 14 0 0 1 0 0 LAMA1 284217 broad.mit.edu 37 18 6948525 6948525 + Missense_Mutation SNP C C T rs137948858 byFrequency TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr18:6948525C>T ENST00000389658.3 - 60 8680 c.8587G>A c.(8587-8589)Gat>Aat p.D2863N NM_005559.3 NP_005550.2 P25391 LAMA1_HUMAN laminin, alpha 1 2863 Laminin G-like 4. axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development extracellular space|laminin-1 complex|laminin-3 complex extracellular matrix structural constituent|receptor binding NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3) 205 Colorectal(10;0.172) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) ACCGTCACATCCCCAATGCAG 0.512000 33 37 0 0 1 0 0 IGHV1-58 28464 broad.mit.edu 37 14 107078546 107078546 + RNA SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr14:107078546G>A ENST00000390628.2 - 0 238 CGTTGTCCACGAGCCTGTCGC 0.532000 51 109 0 0 1 0 0 COL15A1 1306 broad.mit.edu 37 9 101824568 101824568 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:101824568C>T ENST00000375001.3 + 38 3996 c.3573C>T c.(3571-3573)ccC>ccT p.P1191P NM_001855.3 NP_001846.3 P39059 COFA1_HUMAN collagen, type XV, alpha 1 1191 Nonhelical region 10 (NC10). Missing (in Ref. 2; AAC78500). angiogenesis|cell differentiation|signal transduction collagen type XV|extracellular space|integral to membrane binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 107 Acute lymphoblastic leukemia(62;0.0562) GCCCTCCACCCCCTGCGCTTT 0.458000 40 88 0 0 1 0 0 CAMK2G 818 broad.mit.edu 37 10 75608304 75608304 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:75608304G>A ENST00000423381.1 - 8 704 c.581C>T c.(580-582)cCt>cTt p.P194L CAMK2G_ENST00000444854.2_Intron|CAMK2G_ENST00000372765.1_Missense_Mutation_p.P194L|CAMK2G_ENST00000394762.2_Missense_Mutation_p.P194L|CAMK2G_ENST00000351293.3_Missense_Mutation_p.P194L|CAMK2G_ENST00000305762.7_Missense_Mutation_p.P194L|CAMK2G_ENST00000322680.3_Missense_Mutation_p.P194L|CAMK2G_ENST00000322635.3_Missense_Mutation_p.P194L|CAMK2G_ENST00000472912.1_5'UTR NM_001204492.1 NP_001191421.1 Q13555 KCC2G_HUMAN calcium/calmodulin-dependent protein kinase II gamma 194 Protein kinase. insulin secretion|interferon-gamma-mediated signaling pathway|synaptic transmission calcium- and calmodulin-dependent protein kinase complex|cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane ATP binding|calcium-dependent protein serine/threonine phosphatase activity|calmodulin binding|calmodulin-dependent protein kinase activity kidney(2)|large_intestine(2)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 15 Prostate(51;0.0112) GATATCCACAGGTTTTCCATA 0.522000 OREG0020267 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 6 33 0 0 1 0 0 FAM178A 55719 broad.mit.edu 37 10 102684140 102684140 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:102684140C>T ENST00000238961.3 + 5 1530 c.1382C>T c.(1381-1383)aCc>aTc p.T461I FAM178A_ENST00000370269.3_Missense_Mutation_p.T461I|FAM178A_ENST00000370271.3_Missense_Mutation_p.T461I NM_018121.3 NP_060591.3 Q8IX21 F178A_HUMAN family with sequence similarity 178, member A 461 AAAAATAAAACCGCTAGCTCC 0.413000 6 217 0 0 1 0 0 RP11-24M17.5 0 broad.mit.edu 37 15 76074713 76074713 + RNA SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr15:76074713G>A ENST00000395215.3 + 0 785 AGAGGATGTGGAAAATGTCGG 0.488000 32 82 0 0 1 0 0 OR4K2 390431 broad.mit.edu 37 14 20344543 20344543 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr14:20344543G>A ENST00000298642.2 + 1 153 c.117G>A c.(115-117)atG>atA p.M39I NM_001005501.1 NP_001005501.1 Q8NGD2 OR4K2_HUMAN olfactory receptor, family 4, subfamily K, member 2 39 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(16)|ovary(2)|skin(9)|upper_aerodigestive_tract(2) 43 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) TGGCAACAATGGTGGGTAACA 0.403000 84 215 0 0 1 0 0 LIPI 149998 broad.mit.edu 37 21 15537625 15537625 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr21:15537625G>A ENST00000344577.2 - 6 908 c.883C>T c.(883-885)Cct>Tct p.P295S LIPI_ENST00000536861.1_Missense_Mutation_p.P274S NM_198996.2 NP_945347.1 Q6XZB0 LIPI_HUMAN lipase, member I 274 lipid catabolic process extracellular region|extracellular space|membrane|plasma membrane heparin binding|phospholipase activity endometrium(1)|kidney(13)|large_intestine(9)|liver(3)|lung(24)|ovary(3)|urinary_tract(1) 54 Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.0015)|Colorectal(24;0.00693)|Lung(58;0.166) GAACGACAAGGAAATGAAATA 0.353000 50 59 0 0 1 0 0 ZFP2 80108 broad.mit.edu 37 5 178358768 178358768 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:178358768C>T ENST00000361362.2 + 5 984 c.454C>T c.(454-456)Cat>Tat p.H152Y ZFP2_ENST00000503510.2_Missense_Mutation_p.H152Y|ZFP2_ENST00000520301.1_Missense_Mutation_p.H152Y|ZFP2_ENST00000523286.1_Missense_Mutation_p.H152Y NM_030613.2 NP_085116.2 Q6ZN57 ZFP2_HUMAN ZFP2 zinc finger protein 152 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1) 20 all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351) all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.00655)|GBM - Glioblastoma multiforme(465;0.0302)|OV - Ovarian serous cystadenocarcinoma(192;0.0615)|Epithelial(171;0.111) TCAAAGAATTCATACTGGAGA 0.413000 32 61 0 0 1 0 0 EPYC 1833 broad.mit.edu 37 12 91396268 91396268 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:91396268G>A ENST00000261172.3 - 2 167 c.75C>T c.(73-75)tcC>tcT p.S25S NM_004950.4 NP_004941.2 Q99645 EPYC_HUMAN epiphycan 25 female pregnancy proteinaceous extracellular matrix glycosaminoglycan binding NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(8)|skin(2) 18 CATAGTTGATGGACTCTAGAG 0.383000 13 118 0 0 1 0 0 REPIN1 29803 broad.mit.edu 37 7 150069172 150069172 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:150069172C>T ENST00000397281.2 + 4 1331 c.842C>T c.(841-843)tCg>tTg p.S281L REPIN1_ENST00000479668.1_3'UTR|REPIN1_ENST00000489432.2_Missense_Mutation_p.S338L|REPIN1_ENST00000444957.1_Missense_Mutation_p.S281L|REPIN1_ENST00000466559.1_3'UTR|RP4-584D14.5_ENST00000488310.1_RNA|REPIN1_ENST00000425389.2_Missense_Mutation_p.S281L|REPIN1_ENST00000540729.1_Missense_Mutation_p.S281L NM_013400.3 NP_037532.2 Q9BWE0 REPI1_HUMAN replication initiator 1 281 DNA replication nuclear origin of replication recognition complex DNA binding|zinc ion binding cervix(2)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1) 14 Ovarian(565;0.183)|Melanoma(164;0.226) OV - Ovarian serous cystadenocarcinoma(82;0.011) TATCTGACTTCGCACCGGCGC 0.637000 44 77 0 0 1 0 0 SCAND3 114821 broad.mit.edu 37 6 28542837 28542837 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:28542837C>T ENST00000452236.2 - 3 2262 c.1645G>A c.(1645-1647)Gaa>Aaa p.E549K NM_052923.1 NP_443155.1 Q6R2W3 SCND3_HUMAN SCAN domain containing 3 549 DNA integration|viral reproduction nucleus DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3) 71 TGATCTAATTCATTTTCTGTA 0.393000 50 138 0 0 1 0 0 OR5V1 81696 broad.mit.edu 37 6 29323212 29323212 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:29323212C>T ENST00000377154.1 - 4 1060 c.761G>A c.(760-762)aGc>aAc p.S254N OR5V1_ENST00000543825.1_Missense_Mutation_p.S254N Q9UGF6 OR5V1_HUMAN olfactory receptor, family 5, subfamily V, member 1 254 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|kidney(3)|large_intestine(3)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 AAAGATGGCGCTGCCATAAAA 0.453000 42 121 0 0 1 0 0 DMBT1 1755 broad.mit.edu 37 10 124396763 124396763 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:124396763C>T ENST00000338354.3 + 51 6596 c.6490C>T c.(6490-6492)Ccc>Tcc p.P2164S DMBT1_ENST00000368955.3_Missense_Mutation_p.P2154S|DMBT1_ENST00000344338.3_Missense_Mutation_p.P2154S|DMBT1_ENST00000359586.6_Missense_Mutation_p.P884S|DMBT1_ENST00000368909.3_Missense_Mutation_p.P2164S|DMBT1_ENST00000330163.4_Missense_Mutation_p.P1536S|DMBT1_ENST00000368956.2_Missense_Mutation_p.P1536S Q9UGM3 DMBT1_HUMAN deleted in malignant brain tumors 1 2164 ZP. epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3) 72 all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238) CGAGTGTCGGCCCCAGATAAC 0.532000 12 39 0 0 1 0 0 ITPRIPL2 162073 broad.mit.edu 37 16 19126330 19126330 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr16:19126330C>T ENST00000381440.3 + 1 1077 c.547C>T c.(547-549)Ccg>Tcg p.P183S CTD-2349B8.1_ENST00000564808.2_Intron NM_001034841.3 NP_001030013.1 Q3MIP1 IPIL2_HUMAN inositol 1,4,5-trisphosphate receptor interacting protein-like 2 183 integral to membrane endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 9 ACTGCGCCTCCCGCCGCTTGT 0.692000 OREG0023657 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 17 35 0 0 1 0 0 CCDC88C 440193 broad.mit.edu 37 14 91773491 91773491 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr14:91773491C>T ENST00000389857.6 - 18 3172 c.3086G>A c.(3085-3087)gGg>gAg p.G1029E NM_001080414.3 NP_001073883.2 Q9P219 DAPLE_HUMAN coiled-coil domain containing 88C 1029 microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway cytoplasm|insoluble fraction microtubule binding|PDZ domain binding|protein self-association central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1) 24 all_cancers(154;0.0468) GGCTGTCTTCCCCGCAGGGTG 0.602000 19 54 0 0 1 0 0 OR2A25 392138 broad.mit.edu 37 7 143772113 143772113 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:143772113G>A ENST00000408898.2 + 1 839 c.801G>A c.(799-801)aaG>aaA p.K267K NM_001004488.1 NP_001004488.1 A4D2G3 O2A25_HUMAN olfactory receptor, family 2, subfamily A, member 25 267 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(16)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1) 24 Melanoma(164;0.0783) AGAGCCCCAAGGAGCAGAAGA 0.463000 21 479 0 0 1 0 0 HCN3 57657 broad.mit.edu 37 1 155254361 155254361 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:155254361C>T ENST00000368358.3 + 4 910 c.902C>T c.(901-903)gCc>gTc p.A301V HCN3_ENST00000496230.1_3'UTR NM_020897.1 NP_065948.1 Q9P1Z3 HCN3_HUMAN hyperpolarization activated cyclic nucleotide-gated potassium channel 3 301 integral to membrane cAMP binding|sodium channel activity|voltage-gated potassium channel activity breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088) Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193) TATTCCCATGCCCTGTTCAAG 0.597000 39 111 0 0 1 0 0 UFC1 51506 broad.mit.edu 37 1 161123797 161123797 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:161123797G>A ENST00000368003.5 + 1 256 c.10G>A c.(10-12)Gaa>Aaa p.E4K RP11-297K8.2_ENST00000420498.1_RNA|UFC1_ENST00000473766.1_3'UTR NM_016406.3 NP_057490.2 Q9Y3C8 UFC1_HUMAN ubiquitin-fold modifier conjugating enzyme 1 4 protein ufmylation protein binding|UFM1 conjugating enzyme activity endometrium(1)|lung(9) 10 all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00275) GATGGCGGATGAAGCCACGCG 0.557000 37 106 0 0 1 0 0 ECE2 9718 broad.mit.edu 37 3 183995094 183995094 + Silent SNP C C T rs144755388 TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:183995094C>T ENST00000402825.3 + 4 672 c.672C>T c.(670-672)atC>atT p.I224I ECE2_ENST00000359140.4_Silent_p.I77I|EIF2B5_ENST00000444495.1_Intron|ECE2_ENST00000404464.3_Silent_p.I106I|ECE2_ENST00000357474.5_Silent_p.I152I NM_014693.3 NP_055508.3 O60344 ECE2_HUMAN endothelin converting enzyme 2 224 Endothelin-converting enzyme 2 region. brain development|cardioblast differentiation|cell-cell signaling|peptide hormone processing cytoplasmic vesicle membrane|Golgi membrane|integral to membrane metal ion binding|metalloendopeptidase activity|methyltransferase activity p.I77I(1)|p.I224I(1) breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(13)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(4) 49 all_cancers(143;1.39e-10)|Ovarian(172;0.0339) Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) CTGGAAAAATCCTGGAGTCCC 0.602000 13 130 0 0 1 0 0 COL3A1 1281 broad.mit.edu 37 2 189859813 189859813 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:189859813C>T ENST00000304636.3 + 21 1667 c.1497C>T c.(1495-1497)atC>atT p.I499I COL3A1_ENST00000317840.5_Silent_p.I499I NM_000090.3 NP_000081.1 P02461 CO3A1_HUMAN collagen, type III, alpha 1 499 Triple-helical region. axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway collagen type III|extracellular space extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3) 126 OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141) Collagenase(DB00048)|Palifermin(DB00039) CAAATGGCATCCCAGGAGAAA 0.383000 35 68 0 0 1 0 0 GRIA1 2890 broad.mit.edu 37 5 153149821 153149821 + Nonsense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:153149821C>T ENST00000285900.5 + 13 2459 c.2116C>T c.(2116-2118)Cga>Tga p.R706* GRIA1_ENST00000521843.2_Nonsense_Mutation_p.R637*|GRIA1_ENST00000448073.4_Nonsense_Mutation_p.R716*|GRIA1_ENST00000518783.1_Nonsense_Mutation_p.R716*|GRIA1_ENST00000340592.5_Nonsense_Mutation_p.R706*|GRIA1_ENST00000518142.1_Nonsense_Mutation_p.R626* NM_000827.3|NM_001258019.1 NP_000818.2|NP_001244948.1 P42261 GRIA1_HUMAN glutamate receptor, ionotropic, AMPA 1 706 synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 81 Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21) Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785) Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236) GGGGATGATTCGAGTGAGGAA 0.488000 5 115 0 0 1 0 0 SPTSSB 165679 broad.mit.edu 37 3 161064020 161064020 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:161064020C>T ENST00000359175.4 - 3 1662 c.92G>A c.(91-93)cGa>cAa p.R31Q SPTSSB_ENST00000497137.1_Missense_Mutation_p.R31Q NM_001040100.1 NP_001035189.1 Q8NFR3 SSPTB_HUMAN serine palmitoyltransferase, small subunit B 31 sphingolipid biosynthetic process integral to membrane|serine C-palmitoyltransferase complex protein binding AAACATAGATCGCTCCCAGGG 0.428000 37 56 0 0 1 0 0 PLEKHB2 55041 broad.mit.edu 37 2 132110663 132110663 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:132110663G>A ENST00000404460.1 + 7 548 c.494G>A c.(493-495)cGa>cAa p.R165Q PLEKHB2_ENST00000303908.3_Missense_Mutation_p.R165Q Q96CS7 PKHB2_HUMAN pleckstrin homology domain containing, family B (evectins) member 2 0 membrane protein binding large_intestine(1)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 9 BRCA - Breast invasive adenocarcinoma(221;0.0828) CTCCCAACGCGATGTTTTTTT 0.448000 20 27 0 0 1 0 0 PCLO 27445 broad.mit.edu 37 7 82584369 82584369 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:82584369C>T ENST00000423517.2 - 5 6237 c.5900G>A c.(5899-5901)gGa>gAa p.G1967E PCLO_ENST00000333891.8_Missense_Mutation_p.G1967E NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 1898 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 ATCTACCGATCCATTGTACGT 0.368000 63 199 0 0 1 0 0 PPP4R4 57718 broad.mit.edu 37 14 94718098 94718098 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr14:94718098G>A ENST00000304338.3 + 16 1884 c.1730G>A c.(1729-1731)gGa>gAa p.G577E NM_058237.1 NP_478144.1 Q6NUP7 PP4R4_HUMAN protein phosphatase 4, regulatory subunit 4 577 cytoplasm|protein serine/threonine phosphatase complex protein binding NS(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(15)|lung(10)|skin(7)|upper_aerodigestive_tract(2) 40 TTGGGCCAAGGAAAAAGTTAC 0.274000 25 79 0 0 1 0 0 DSE 29940 broad.mit.edu 37 6 116720403 116720403 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:116720403C>T ENST00000537543.1 + 2 124 c.47C>T c.(46-48)tCt>tTt p.S16F DSE_ENST00000452085.3_5'UTR|DSE_ENST00000331677.3_5'UTR|DSE_ENST00000359564.2_5'UTR|DSE_ENST00000540275.1_Silent_p.I189I Q9UL01 DSE_HUMAN dermatan sulfate epimerase 0 dermatan sulfate biosynthetic process endoplasmic reticulum|Golgi apparatus|integral to membrane chondroitin-glucuronate 5-epimerase activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 35 all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234) Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262) ATTTGGAGATCTGATGCCACG 0.478000 37 84 0 0 1 0 0 OR5I1 10798 broad.mit.edu 37 11 55703373 55703373 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:55703373C>T ENST00000301532.3 - 1 503 c.504G>A c.(502-504)ctG>ctA p.L168L NM_006637.1 NP_006628.1 Q13606 OR5I1_HUMAN olfactory receptor, family 5, subfamily I, member 1 168 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(34)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 52 CACAATATTTCAGAATAAAGG 0.418000 35 44 0 0 1 0 0 IFI27L1 122509 broad.mit.edu 37 14 94563282 94563282 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr14:94563282C>T ENST00000553664.1 + 3 191 c.66C>T c.(64-66)aaC>aaT p.N22N IFI27L1_ENST00000554562.1_5'UTR|IFI27L1_ENST00000556381.1_5'UTR|IFI27L1_ENST00000557218.1_5'UTR|IFI27L1_ENST00000553350.1_3'UTR|IFI27L1_ENST00000555523.1_5'UTR|IFI27L1_ENST00000557066.1_5'UTR|IFI27L1_ENST00000393115.3_5'UTR|IFI27L1_ENST00000554544.1_5'UTR Q96BM0 I27L1_HUMAN interferon, alpha-inducible protein 27-like 1 0 integral to membrane lung(2) 2 AAGGGGCCAACCATGGGAAAG 0.522000 14 27 0 0 1 0 0 ISOC1 51015 broad.mit.edu 37 5 128440938 128440938 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:128440938C>T ENST00000173527.5 + 3 506 c.490C>T c.(490-492)Ctt>Ttt p.L164F NM_016048.2 NP_057132.2 Q96CN7 ISOC1_HUMAN isochorismatase domain containing 1 164 peroxisome catalytic activity kidney(2)|lung(7) 9 all_cancers(142;0.0813)|Prostate(80;0.0865) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) Epithelial(69;0.138)|OV - Ovarian serous cystadenocarcinoma(64;0.164) CCCTAAAGGTCTTGGGAGCAC 0.373000 41 75 0 0 1 0 0 ACSM2A 123876 broad.mit.edu 37 16 20497986 20497986 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr16:20497986G>A ENST00000573854.1 + 14 1834 c.1720G>A c.(1720-1722)Gcc>Acc p.A574T ACSM2A_ENST00000219054.6_Missense_Mutation_p.A574T|ACSM2A_ENST00000396104.2_Missense_Mutation_p.A574T|ACSM2A_ENST00000417235.2_Missense_Mutation_p.A495T|ACSM2A_ENST00000536134.1_Missense_Mutation_p.A346T|ACSM2A_ENST00000575690.1_Missense_Mutation_p.A574T NM_001010845.2 NP_001010845.1 Q08AH3 ACS2A_HUMAN acyl-CoA synthetase medium-chain family member 2A 574 fatty acid metabolic process mitochondrial matrix ATP binding|butyrate-CoA ligase activity|metal ion binding breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1) 51 GTCCGGAAAAGCCCGTGCGCA 0.458000 6 291 0 0 1 0 0 ZNF879 345462 broad.mit.edu 37 5 178460213 178460213 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:178460213C>T ENST00000444149.2 + 5 1452 c.1264C>T c.(1264-1266)Cac>Tac p.H422Y NM_001136116.1 NP_001129588.1 B4DU55 ZN879_HUMAN zinc finger protein 879 422 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|kidney(2)|pancreas(1)|stomach(1) 7 TCAAAGAATTCACACTGGAGA 0.408000 6 14 0 0 1 0 0 COL23A1 91522 broad.mit.edu 37 5 177690307 177690307 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:177690307C>T ENST00000390654.3 - 9 898 c.541G>A c.(541-543)Gga>Aga p.G181R COL23A1_ENST00000407622.1_Missense_Mutation_p.G145R NM_173465.3 NP_775736.2 Q86Y22 CONA1_HUMAN collagen, type XXIII, alpha 1 181 Collagen-like 1.|Gly-rich. collagen|integral to membrane|plasma membrane protein binding breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1) 19 all_cancers(89;0.00188)|Renal(175;0.000159)|Lung NSC(126;0.00814)|all_lung(126;0.0129) all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) OV - Ovarian serous cystadenocarcinoma(192;0.153)|all cancers(165;0.172) CCAGCAGCTCCATCTTGTCCT 0.687000 11 37 0 0 1 0 0 FAM179A 165186 broad.mit.edu 37 2 29245071 29245071 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:29245071G>A ENST00000379558.4 + 11 1759 c.1408G>A c.(1408-1410)Gaa>Aaa p.E470K FAM179A_ENST00000465300.1_3'UTR|FAM179A_ENST00000403861.2_Missense_Mutation_p.E415K NM_199280.2 NP_954974.2 Q6ZUX3 F179A_HUMAN family with sequence similarity 179, member A 470 binding breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 TGAATGGGAAGAAGAGGAGGA 0.547000 43 86 0 0 1 0 0 SENP5 205564 broad.mit.edu 37 3 196612926 196612926 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:196612926C>T ENST00000323460.5 + 2 1123 c.874C>T c.(874-876)Cct>Tct p.P292S SENP5_ENST00000445299.2_Missense_Mutation_p.P292S|SENP5_ENST00000419026.1_Intron NM_152699.4 NP_689912.2 Q96HI0 SENP5_HUMAN SUMO1/sentrin specific peptidase 5 292 cell cycle|cell division|proteolysis nucleolus cysteine-type peptidase activity NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(14)|skin(1) 32 all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135) Epithelial(36;3.14e-24)|all cancers(36;2.1e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.004) CAGCCCATTTCCTTCCCCAGA 0.542000 44 106 0 0 1 0 0 OR2T6 254879 broad.mit.edu 37 1 248551359 248551359 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:248551359C>T ENST00000355728.2 + 1 450 c.450C>T c.(448-450)ttC>ttT p.F150F NM_001005471.1 NP_001005471.1 Q8NHC8 OR2T6_HUMAN olfactory receptor, family 2, subfamily T, member 6 150 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.F150F(1) endometrium(3)|large_intestine(5)|lung(38)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 55 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) GCTCTTGGTTCGGTGGGGCTT 0.557000 42 33 0 0 1 0 0 ESPL1 9700 broad.mit.edu 37 12 53670485 53670485 + Silent SNP G G A rs147987096 TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:53670485G>A ENST00000257934.4 + 8 1873 c.1782G>A c.(1780-1782)gcG>gcA p.A594A ESPL1_ENST00000552462.1_Silent_p.A594A NM_012291.4 NP_036423.4 Q14674 ESPL1_HUMAN extra spindle pole bodies homolog 1 (S. cerevisiae) 594 apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis centrosome|nucleus cysteine-type peptidase activity|protein binding breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8) 70 CCTACAAGGCGGTGCGGGCCG 0.667000 18 47 0 0 1 0 0 ZNF175 7728 broad.mit.edu 37 19 52090690 52090690 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:52090690G>A ENST00000262259.2 + 5 1464 c.1106G>A c.(1105-1107)gGa>gAa p.G369E ZNF175_ENST00000436511.2_Intron NM_007147.2 NP_009078.1 Q9Y473 ZN175_HUMAN zinc finger protein 175 369 response to virus cytoplasm|intermediate filament cytoskeleton|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 24 all_neural(266;0.0299) GBM - Glioblastoma multiforme(134;0.000426)|OV - Ovarian serous cystadenocarcinoma(262;0.0257) CATGACTGTGGAAAAGCCTTT 0.408000 56 123 0 0 1 0 0 SPPL2B 56928 broad.mit.edu 37 19 2341035 2341035 + RNA SNP C C G TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:2341035C>G ENST00000452401.2 + 0 1033 AC005258.3_ENST00000590001.1_RNA Q8TCT7 PSL1_HUMAN signal peptide peptidase like 2B Golgi membrane|integral to membrane aspartic-type endopeptidase activity Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) TCCCCCGGGCCCCGGCGGGCA 0.721000 8 22 0 0 1 0 0 GALNT8 26290 broad.mit.edu 37 12 4835843 4835843 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:4835843C>T ENST00000252318.2 + 2 694 c.357C>T c.(355-357)ttC>ttT p.F119F RP11-234B24.6_ENST00000544741.2_3'UTR NM_017417.1 NP_059113.1 Q9NY28 GALT8_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8) 119 Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1) 35 TGAAACTCTTCCCACACTCAC 0.512000 18 40 0 0 1 0 0 LSMD1 84316 broad.mit.edu 37 17 7760487 7760487 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:7760487C>T ENST00000333775.5 - 1 685 c.255G>A c.(253-255)gcG>gcA p.A85A LSMD1_ENST00000575071.1_5'UTR|LSMD1_ENST00000576384.1_5'UTR|LSMD1_ENST00000576861.1_Silent_p.A11A|LSMD1_ENST00000575208.1_5'UTR|LSMD1_ENST00000575771.1_5'UTR|LSMD1_ENST00000335155.5_Silent_p.A37A NM_032356.3 NP_115732.2 Q9BRA0 LSMD1_HUMAN LSM domain containing 1 37 cytoplasm|nucleus endometrium(1)|lung(2)|ovary(1) 4 all_cancers(10;0.11)|Prostate(122;0.219) CGCGCTCAGCCGCCGAGTCCT 0.672000 OREG0024146 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 45 173 0 0 1 0 0 AMIGO2 347902 broad.mit.edu 37 12 47471392 47471392 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:47471392C>T ENST00000266581.4 - 2 1860 c.1394G>A c.(1393-1395)aGa>aAa p.R465K AMIGO2_ENST00000321382.3_Missense_Mutation_p.R465K|AMIGO2_ENST00000550413.1_Missense_Mutation_p.R465K|AMIGO2_ENST00000429635.1_Missense_Mutation_p.R465K NM_181847.4 NP_862830.1 Q86SJ2 AMGO2_HUMAN adhesion molecule with Ig-like domain 2 465 heterophilic cell-cell adhesion|homophilic cell adhesion integral to membrane|nucleus|plasma membrane endometrium(2)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 Renal(347;0.138)|Lung SC(27;0.192) AAACACCACTCTTTTACCTGC 0.522000 17 38 0 0 1 0 0 KLRC2 3822 broad.mit.edu 37 12 10588444 10588444 + Missense_Mutation SNP G G A rs111237999 TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:10588444G>A ENST00000381902.2 - 1 148 c.142C>T c.(142-144)Cct>Tct p.P48S NKG2-E_ENST00000539033.1_Missense_Mutation_p.P48S|KLRC2_ENST00000536833.2_Intron|KLRC2_ENST00000381901.1_Missense_Mutation_p.P48S NM_002260.3 NP_002251.2 P26717 NKG2C_HUMAN killer cell lectin-like receptor subfamily C, member 2 48 cellular defense response integral to plasma membrane sugar binding|transmembrane receptor activity kidney(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1) 11 TTCAGGGAAGGATTTTGAAGA 0.363000 67 161 0 0 1 0 0 GLP1R 2740 broad.mit.edu 37 6 39024250 39024250 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:39024250G>A ENST00000373256.4 + 2 199 c.156G>A c.(154-156)gaG>gaA p.E52E NM_002062.3 NP_002053.3 P43220 GLP1R_HUMAN glucagon-like peptide 1 receptor 52 activation of adenylate cyclase activity|cAMP-mediated signaling|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|regulation of insulin secretion integral to membrane|plasma membrane glucagon receptor activity|peptide receptor activity, G-protein coupled breast(5)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(2) 31 Exenatide(DB01276)|Glucagon recombinant(DB00040) CCCTGACTGAGGATCCACCTC 0.582000 45 43 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179444428 179444428 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:179444428C>T ENST00000589042.1 - 319 67720 c.67496G>A c.(67495-67497)cGa>cAa p.R22499Q TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R13559Q|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R20858Q|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R19931Q|TTN_ENST00000460472.2_Missense_Mutation_p.R13434Q|TTN_ENST00000342175.6_Missense_Mutation_p.R13626Q|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000456053.1_RNA|RP11-171I2.2_ENST00000603521.1_RNA|TTN-AS1_ENST00000419746.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 20858 Fibronectin type-III 63. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TTTCATAACTCGTTGCCACTT 0.408000 39 81 0 0 1 0 0 ATP1A2 477 broad.mit.edu 37 1 160104352 160104352 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:160104352G>A ENST00000361216.3 + 14 1995 c.1906G>A c.(1906-1908)Gag>Aag p.E636K ATP1A2_ENST00000472488.1_3'UTR|ATP1A2_ENST00000392233.3_Missense_Mutation_p.E636K NM_000702.3 NP_000693.1 P50993 AT1A2_HUMAN ATPase, Na+/K+ transporting, alpha 2 polypeptide 636 ATP biosynthetic process ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 69 all_cancers(52;1.11e-16)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246) AGAGGGTAACGAGACTGTGGA 0.557000 34 110 0 0 1 0 0 SYNDIG1 79953 broad.mit.edu 37 20 24524035 24524035 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr20:24524035C>T ENST00000376862.3 + 2 935 c.302C>T c.(301-303)tCc>tTc p.S101F NM_024893.1 NP_079169.1 Q9H7V2 SYNG1_HUMAN synapse differentiation inducing 1 101 response to biotic stimulus early endosome membrane|integral to membrane|plasma membrane breast(2)|endometrium(1)|large_intestine(3)|lung(14)|prostate(1)|skin(3) 24 GTGCTGCGCTCCTGGGGGGAC 0.637000 44 109 0 0 1 0 0 STK31 56164 broad.mit.edu 37 7 23809258 23809258 + Splice_Site SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:23809258G>A ENST00000354639.3 + 13 1991 c.e13-1 STK31_ENST00000428484.1_Splice_Site|STK31_ENST00000405627.3_Splice_Site|STK31_ENST00000433467.2_Splice_Site|STK31_ENST00000355870.3_Splice_Site NM_001260504.1|NM_032944.3 NP_001247433.1|NP_116562.2 Q9BXU1 STK31_HUMAN serine/threonine kinase 31 ATP binding|nucleic acid binding|protein serine/threonine kinase activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 67 TTGCAAATGAGGTTTTTGACC 0.373000 35 118 0 0 1 0 0 PRSS42 339906 broad.mit.edu 37 3 46871963 46871963 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:46871963C>T ENST00000447340.1 - 3 348 c.295G>A c.(295-297)Ggc>Agc p.G99S PRSS42_ENST00000429665.1_Silent_p.L271L Q7Z5A4 PRS42_HUMAN protease, serine, 42 0 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity breast(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1) 8 ATTCACAGGCCAAGCGGCCCC 0.478000 8 12 0 0 1 0 0 GPR112 139378 broad.mit.edu 37 X 135427266 135427266 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chrX:135427266C>T ENST00000394143.1 + 6 1692 c.1401C>T c.(1399-1401)ttC>ttT p.F467F GPR112_ENST00000412101.1_Silent_p.F262F|GPR112_ENST00000287534.4_Silent_p.F404F|GPR112_ENST00000394141.1_Silent_p.F262F|GPR112_ENST00000370652.1_Silent_p.F467F NM_153834.3 NP_722576.3 Q8IZF6 GP112_HUMAN G protein-coupled receptor 112 467 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2) 199 Acute lymphoblastic leukemia(192;0.000127) CATCATCATTCCCACCTGAGC 0.458000 44 21 0 0 1 0 0 TPRA1 131601 broad.mit.edu 37 3 127292608 127292608 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:127292608G>A ENST00000355552.3 - 11 1254 c.878C>T c.(877-879)tCc>tTc p.S293F TPRA1_ENST00000296210.7_Silent_p.L238L|TPRA1_ENST00000489960.1_Missense_Mutation_p.S293F|TPRA1_ENST00000450633.2_Missense_Mutation_p.S293F NM_001136053.1 NP_001129525.1 Q86W33 TPRA1_HUMAN transmembrane protein, adipocyte asscociated 1 293 aging|lipid metabolic process integral to membrane G-protein coupled receptor activity endometrium(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 9 GCATTTGTAGGAGAAGAGGAT 0.597000 32 47 0 0 1 0 0 PAPPA 5069 broad.mit.edu 37 9 119028248 119028248 + Translation_Start_Site SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:119028248G>A ENST00000534838.1 + 0 157 PAPPA_ENST00000328252.3_Missense_Mutation_p.D949N Q13219 PAPP1_HUMAN pregnancy-associated plasma protein A, pappalysin 1 cell differentiation|female pregnancy cytoplasm|extracellular region|membrane metalloendopeptidase activity|zinc ion binding NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1) 98 GTACTGTGGCGATGGCATTAT 0.438000 24 48 0 0 1 0 0 SPATA7 55812 broad.mit.edu 37 14 88904655 88904655 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr14:88904655C>T ENST00000556553.1 + 12 2152 c.1593C>T c.(1591-1593)ccC>ccT p.P531P SPATA7_ENST00000045347.7_Intron|SPATA7_ENST00000356583.5_Silent_p.P531P|SPATA7_ENST00000393545.4_Silent_p.P563P Q9P0W8 SPAT7_HUMAN spermatogenesis associated 7 563 response to stimulus|visual perception cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(9)|ovary(1) 18 ACACATCACCCTCCCAATCTG 0.403000 31 66 0 0 1 0 0 OPRK1 4986 broad.mit.edu 37 8 54163539 54163539 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:54163539G>A ENST00000265572.3 - 2 356 c.59C>T c.(58-60)gCc>gTc p.A20V OPRK1_ENST00000520287.1_Missense_Mutation_p.A20V NM_000912.3 NP_000903.2 P41145 OPRK_HUMAN opioid receptor, kappa 1 20 behavior|immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception|synaptic transmission|viral genome replication integral to plasma membrane kappa-opioid receptor activity|protein binding NS(2)|breast(3)|endometrium(3)|kidney(12)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1) 43 all_epithelial(80;0.066)|Lung NSC(129;0.0804)|all_lung(136;0.136) Buprenorphine(DB00921)|Butorphanol(DB00611)|Cocaine(DB00907)|Codeine(DB00318)|Dezocine(DB01209)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Meperidine(DB00454)|Mirtazapine(DB00370)|Morphine(DB00295)|Nalbuphine(DB00844)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Tramadol(DB00193) GGGCAGGCAGGCGCTCGGGGC 0.736000 8 22 0 0 1 0 0 CACNA1E 777 broad.mit.edu 37 1 181765869 181765869 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:181765869C>T ENST00000526775.1 + 45 6253 c.6088C>T c.(6088-6090)Ctt>Ttt p.L2030F CACNA1E_ENST00000367570.1_Missense_Mutation_p.L2049F|CACNA1E_ENST00000358338.5_Missense_Mutation_p.L1981F|CACNA1E_ENST00000367567.4_Missense_Mutation_p.L1656F|CACNA1E_ENST00000357570.5_Missense_Mutation_p.L2043F|CACNA1E_ENST00000367573.2_Missense_Mutation_p.L2092F|CACNA1E_ENST00000360108.3_Missense_Mutation_p.L2073F NM_001205294.1 NP_001192223.1 Q15878 CAC1E_HUMAN calcium channel, voltage-dependent, R type, alpha 1E subunit 2092 energy reserve metabolic process|membrane depolarization|synaptic transmission voltage-gated calcium channel complex voltage-gated calcium channel activity NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 204 GCGAAAGCATCTTCTCTCTCC 0.577000 17 40 0 0 1 0 0 STAU2 27067 broad.mit.edu 37 8 74526035 74526035 + Missense_Mutation SNP G G T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:74526035G>T ENST00000355780.5 - 8 957 c.739C>A c.(739-741)Cct>Act p.P247T STAU2_ENST00000523558.1_Missense_Mutation_p.P107T|STAU2_ENST00000521451.1_Missense_Mutation_p.P59T|STAU2_ENST00000521727.1_Missense_Mutation_p.P259T|STAU2_ENST00000522509.1_Missense_Mutation_p.P247T|STAU2_ENST00000521210.1_Missense_Mutation_p.P175T|STAU2_ENST00000519961.1_Missense_Mutation_p.P279T|STAU2_ENST00000517542.1_Missense_Mutation_p.P241T|STAU2_ENST00000524300.1_Missense_Mutation_p.P279T|STAU2_ENST00000522695.1_Missense_Mutation_p.P247T NM_014393.2 NP_055208.2 Q9NUL3 STAU2_HUMAN staufen double-stranded RNA binding protein 2 279 DRBM 3. transport endoplasmic reticulum|microtubule|nucleolus double-stranded RNA binding breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1) 19 Breast(64;0.0138) Epithelial(68;0.026)|BRCA - Breast invasive adenocarcinoma(89;0.0483)|all cancers(69;0.0972) TCCACCACAGGAAGAGGTGGA 0.378000 36 79 1.96642e-18 1.98513e-18 1 1 0 ADAM21P1 145241 broad.mit.edu 37 14 70714066 70714066 + RNA SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr14:70714066G>A ENST00000530196.1 - 0 452 NR_003951.1 CATCTGGGATGAAGAGCTGAT 0.473000 50 104 0 0 1 0 0 OR5P3 120066 broad.mit.edu 37 11 7846642 7846642 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:7846642C>T ENST00000328375.1 - 1 877 c.878G>A c.(877-879)aGg>aAg p.R293K RP11-35J10.5_ENST00000527565.1_lincRNA NM_153445.1 NP_703146.1 Q8WZ94 OR5P3_HUMAN olfactory receptor, family 5, subfamily P, member 3 293 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1) 15 Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189) CTCCTTGTTCCTGAGGCTGTA 0.413000 17 17 0 0 1 0 0 SNHG14 104472715 broad.mit.edu 37 15 25465652 25465652 + RNA SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr15:25465652G>A ENST00000424208.1 + 0 3039 SNHG14_ENST00000453082.2_RNA|SNORD115-27_ENST00000364430.1_RNA NR_003305.1 TTGGGCTGATGATGAGAACCT 0.507000 73 177 0 0 1 0 0 C10orf68 79741 broad.mit.edu 37 10 32978076 32978076 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:32978076G>A ENST00000375030.2 + 8 892 c.274G>A c.(274-276)Ggg>Agg p.G92R C10orf68_ENST00000375025.4_Missense_Mutation_p.G84R|C10orf68_ENST00000375028.3_Missense_Mutation_p.G98R Q9H943 CJ068_HUMAN chromosome 10 open reading frame 68 84 breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(4) 29 AACTCTCAAAGGGCAAAGAAT 0.289000 16 36 0 0 1 0 0 TRAV12-2 28673 broad.mit.edu 37 14 22356047 22356047 + RNA SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr14:22356047C>T ENST00000390437.2 + 0 11 AAAGCAGATTCTTTTTATGAT 0.388000 6 13 0 0 1 0 0 SPAG6 9576 broad.mit.edu 37 10 22676833 22676833 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:22676833C>T ENST00000376603.2 + 6 1130 c.988C>T c.(988-990)Cca>Tca p.P330S RP11-301N24.3_ENST00000422675.1_RNA|SPAG6_ENST00000538630.1_Missense_Mutation_p.P229S|SPAG6_ENST00000376601.1_Intron|SPAG6_ENST00000376624.3_Missense_Mutation_p.P254S|SPAG6_ENST00000313311.6_Missense_Mutation_p.P254S O75602 SPAG6_HUMAN sperm associated antigen 6 254 cell projection organization|spermatid development axoneme|cilium|cytoplasm|flagellum|microtubule binding breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|prostate(1)|skin(2) 27 AGAGATTTTTCCAGTTGTACT 0.388000 40 68 0 0 1 0 0 TMEM45A 55076 broad.mit.edu 37 3 100287720 100287720 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:100287720C>T ENST00000403410.1 + 7 1311 c.691C>T c.(691-693)Cat>Tat p.H231Y TMEM45A_ENST00000323523.4_Missense_Mutation_p.H215Y Q9NWC5 TM45A_HUMAN transmembrane protein 45A 215 integral to membrane breast(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2) 11 TCTGATGGATCATGAAAATAT 0.358000 77 160 0 0 1 0 0 PROKR1 10887 broad.mit.edu 37 2 68882504 68882504 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:68882504C>T ENST00000303786.3 + 3 1398 c.978C>T c.(976-978)atC>atT p.I326I PROKR1_ENST00000394342.2_Silent_p.I326I Q8TCW9 PKR1_HUMAN prokineticin receptor 1 326 integral to membrane|plasma membrane neuropeptide Y receptor activity endometrium(3)|kidney(2)|large_intestine(14)|lung(9)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 CCTTCTACATCGTCGAGTGCA 0.527000 35 63 0 0 1 0 0 MUC17 140453 broad.mit.edu 37 7 100684779 100684779 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:100684779C>T ENST00000306151.4 + 3 10146 c.10082C>T c.(10081-10083)tCc>tTc p.S3361F NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 3361 59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) AGCACCCTTTCCACAACTCCT 0.483000 277 774 0 0 1 0 0 C10orf71 118461 broad.mit.edu 37 10 50531595 50531595 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:50531595G>A ENST00000374144.3 + 3 1293 c.1005G>A c.(1003-1005)gaG>gaA p.E335E C10orf71_ENST00000323868.4_Silent_p.E335E Q711Q0 CJ071_HUMAN chromosome 10 open reading frame 71 335 endometrium(1) 1 GTCAGGAAGAGAACAGACTTG 0.587000 6 87 0 0 1 0 0 PREX1 57580 broad.mit.edu 37 20 47297827 47297827 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr20:47297827C>T ENST00000396220.1 - 11 1403 c.1381G>A c.(1381-1383)Gaa>Aaa p.E461K PREX1_ENST00000371941.3_Missense_Mutation_p.E461K Q8TCU6 PREX1_HUMAN phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1 461 DEP 1. actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process cytosol|plasma membrane enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 110 BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198) ACTCCTTCTTCCGTCTTGCTG 0.547000 90 284 0 0 1 0 0 ERMARD 55780 broad.mit.edu 37 6 170179320 170179320 + Silent SNP C C A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:170179320C>A ENST00000588451.1 + 16 1887 c.1374C>A c.(1372-1374)ctC>ctA p.L458L C6orf70_ENST00000392095.4_Silent_p.L468L|C6orf70_ENST00000366772.2_Silent_p.L547L|C6orf70_ENST00000418781.3_Silent_p.L521L|C6orf70_ENST00000366773.3_Silent_p.L594L Q5T6L9 CF070_HUMAN 594 integral to membrane breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(1) 20 Breast(66;5.08e-05)|Ovarian(120;0.208) OV - Ovarian serous cystadenocarcinoma(33;1.2e-22)|BRCA - Breast invasive adenocarcinoma(81;1.49e-07)|GBM - Glioblastoma multiforme(31;0.00191) TACTGTTACTCATTGCGCTGG 0.408000 39 90 2.35958e-20 2.38408e-20 1 1 0 UNG 7374 broad.mit.edu 37 12 109540693 109540693 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:109540693C>T ENST00000336865.2 + 4 765 c.556C>T c.(556-558)Cat>Tat p.H186Y UNG_ENST00000242576.2_Missense_Mutation_p.H195Y NM_003362.3 NP_003353.1 P13051 UNG_HUMAN uracil-DNA glycosylase 195 base-excision repair|interspecies interaction between organisms mitochondrion|nucleus protein binding|uracil DNA N-glycosylase activity p.H186Y(1)|p.H195Y(1) central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1) 9 GGATTTTGTTCATCCTGGCCA 0.368000 Base excision repair (BER), DNA glycosylases Immune Deficiency with Hyper-IgM 31 70 0 0 1 0 0 IQCF1 132141 broad.mit.edu 37 3 51929156 51929156 + Missense_Mutation SNP C C T rs146704652 TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:51929156C>T ENST00000310914.5 - 4 430 c.368G>A c.(367-369)cGg>cAg p.R123Q NM_152397.2 NP_689610.2 Q8N6M8 IQCF1_HUMAN IQ motif containing F1 123 central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1) 12 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716) CCACTCCTTCCGGGAGAAGGC 0.607000 52 80 0 0 1 0 0 COL6A3 1293 broad.mit.edu 37 2 238259834 238259834 + Splice_Site SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:238259834C>T ENST00000295550.4 - 27 7207 c.6753_splice c.e27-1 p.G2252_splice COL6A3_ENST00000472056.1_Splice_Site_p.G1645_splice|COL6A3_ENST00000353578.4_Splice_Site_p.G2046_splice|COL6A3_ENST00000346358.4_Splice_Site_p.G2052_splice|COL6A3_ENST00000347401.3_Splice_Site_p.G2051_splice|COL6A3_ENST00000409809.1_Splice_Site_p.G2046_splice NM_004369.3 NP_004360.2 P12111 CO6A3_HUMAN collagen, type VI, alpha 3 2252 Collagen-like 4.|Triple-helical region. axon guidance|cell adhesion|muscle organ development collagen type VI|extracellular space serine-type endopeptidase inhibitor activity breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4) 217 Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203) Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034) ACCTCCGCTTCCCTGGAGCAG 0.572000 22 64 0 0 1 0 0 KCNB1 3745 broad.mit.edu 37 20 47990833 47990833 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr20:47990833C>T ENST00000371741.4 - 2 1430 c.1264G>A c.(1264-1266)Gag>Aag p.E422K NM_004975.2 NP_004966.1 Q14721 KCNB1_HUMAN potassium voltage-gated channel, Shab-related subfamily, member 1 422 energy reserve metabolic process|regulation of insulin secretion voltage-gated potassium channel complex protein binding|voltage-gated potassium channel activity central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1) 53 BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166) CTCTTCTGCTCCTTATAGAAC 0.498000 38 87 0 0 1 0 0 TGFB2 7042 broad.mit.edu 37 1 218614560 218614560 + Nonsense_Mutation SNP T T A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:218614560T>A ENST00000366929.4 + 8 1652 c.1185T>A c.(1183-1185)taT>taA p.Y395* TGFB2_ENST00000479322.1_3'UTR|TGFB2_ENST00000366930.4_Nonsense_Mutation_p.Y367* NM_001135599.2 NP_001129071.1 P61812 TGFB2_HUMAN transforming growth factor, beta 2 367 activation of protein kinase activity|angiogenesis|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cardioblast differentiation|catagen|cell cycle arrest|cell death|cell growth|cell-cell junction organization|cell-cell signaling|collagen fibril organization|dopamine biosynthetic process|embryonic digestive tract development|eye development|glial cell migration|hair follicle morphogenesis|hemopoiesis|menstrual cycle phase|negative regulation of alkaline phosphatase activity|negative regulation of cell growth|negative regulation of epithelial cell proliferation|negative regulation of immune response|negative regulation of macrophage cytokine production|neuron development|neutrophil chemotaxis|odontogenesis|pathway-restricted SMAD protein phosphorylation|platelet activation|platelet degranulation|positive regulation of cardioblast differentiation|positive regulation of catagen|positive regulation of cell adhesion mediated by integrin|positive regulation of cell cycle|positive regulation of cell division|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of epithelial cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of heart contraction|positive regulation of immune response|positive regulation of integrin biosynthetic process|positive regulation of neuron apoptosis|positive regulation of ossification|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein secretion|positive regulation of stress-activated MAPK cascade|regulation of transforming growth factor-beta2 production|response to hypoxia|response to progesterone stimulus|salivary gland morphogenesis|SMAD protein import into nucleus|somatic stem cell division|transforming growth factor beta receptor signaling pathway axon|extracellular matrix|extracellular space|neuronal cell body|platelet alpha granule lumen beta-amyloid binding|cytokine activity|growth factor activity|protein heterodimerization activity|protein homodimerization activity|receptor signaling protein serine/threonine kinase activity|type II transforming growth factor beta receptor binding breast(1)|endometrium(1)|large_intestine(11)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(1) 31 all cancers(67;0.0459)|OV - Ovarian serous cystadenocarcinoma(81;0.049)|GBM - Glioblastoma multiforme(131;0.0776) TGAGCTTATATAATACCATAA 0.403000 45 137 0 0 1 0 0 SSTR1 6751 broad.mit.edu 37 14 38678712 38678712 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr14:38678712G>A ENST00000267377.2 + 3 735 c.118G>A c.(118-120)Gag>Aag p.E40K NM_001049.2 NP_001040.1 P30872 SSR1_HUMAN somatostatin receptor 1 40 digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation|response to nutrient integral to plasma membrane somatostatin receptor activity breast(1)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 29 Hepatocellular(127;0.213)|Esophageal squamous(585;0.22) Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187) GBM - Glioblastoma multiforme(112;0.00444) Octreotide(DB00104) CGGCATGGAGGAGCCAGGGCG 0.706000 14 28 0 0 1 0 0 ZZEF1 23140 broad.mit.edu 37 17 3974120 3974120 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:3974120G>A ENST00000381638.2 - 26 4057 c.3933C>T c.(3931-3933)ttC>ttT p.F1311F NM_015113.3 NP_055928.3 O43149 ZZEF1_HUMAN zinc finger, ZZ-type with EF-hand domain 1 1311 calcium ion binding|zinc ion binding central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3) 84 TGAATCCTTTGAAAAGTTCTG 0.468000 42 118 0 0 1 0 0 C3 718 broad.mit.edu 37 19 6697725 6697725 + Nonsense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:6697725G>A ENST00000245907.6 - 20 2613 c.2521C>T c.(2521-2523)Cga>Tga p.R841* NM_000064.2 NP_000055.2 P01024 CO3_HUMAN complement component 3 841 complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production extracellular space endopeptidase inhibitor activity|receptor binding breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3) 72 GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661) TGCTCGTTTCGAACAACAGAG 0.572000 22 55 0 0 1 0 0 PRB3 5544 broad.mit.edu 37 12 11421083 11421083 + RNA SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:11421083C>T ENST00000381842.3 - 0 138 PRB3_ENST00000440870.3_RNA|PRB3_ENST00000279573.6_RNA|PRB3_ENST00000538488.1_RNA NM_006249.4 NP_006240.4 Q04118 PRB3_HUMAN proline-rich protein BstNI subfamily 3 extracellular region Gram-negative bacterial cell surface binding breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(5) 25 OV - Ovarian serous cystadenocarcinoma(49;0.201) TCTGGCTTTCCTGGAGGAGGT 0.527000 41 79 0 0 1 0 0 FADS3 3995 broad.mit.edu 37 11 61646064 61646064 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:61646064G>A ENST00000540820.1 - 5 739 c.667C>T c.(667-669)Cac>Tac p.H223Y FADS3_ENST00000278829.2_Missense_Mutation_p.H223Y|FADS3_ENST00000525588.1_Missense_Mutation_p.H195Y|FADS3_ENST00000527697.1_Missense_Mutation_p.H99Y Q9Y5Q0 FADS3_HUMAN fatty acid desaturase 3 223 electron transport chain|transport|unsaturated fatty acid biosynthetic process endoplasmic reticulum membrane|integral to membrane|membrane fraction heme binding|oxidoreductase activity, acting on paired donors, with oxidation of a pair of donors resulting in the reduction of molecular oxygen to two molecules of water central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 GGCTTGGCGTGGTGCTGGAAG 0.662000 6 95 0 0 1 0 0 SHROOM4 57477 broad.mit.edu 37 X 50350796 50350796 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chrX:50350796G>A ENST00000376020.2 - 6 3371 c.3346C>T c.(3346-3348)Cgt>Tgt p.R1116C SHROOM4_ENST00000460112.3_Missense_Mutation_p.R1000C|SHROOM4_ENST00000289292.7_Missense_Mutation_p.R1116C NM_020717.3 NP_065768.2 Q9ULL8 SHRM4_HUMAN shroom family member 4 1116 actin filament organization|brain development|cell morphogenesis|cognition apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus actin filament binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 52 Ovarian(276;0.236) tgGGCTGCACGAAAGAGCCTG 0.567000 19 20 0 0 1 0 0 ZBTB41 360023 broad.mit.edu 37 1 197128943 197128943 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:197128943G>A ENST00000367405.4 - 10 2344 c.2276C>T c.(2275-2277)tCt>tTt p.S759F ZBTB41_ENST00000467322.1_5'UTR NM_194314.2 NP_919290.2 Q5SVQ8 ZBT41_HUMAN zinc finger and BTB domain containing 41 759 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(11)|ovary(1)|skin(3)|upper_aerodigestive_tract(2) 40 TTTTTCCTCAGAAGTACTGAG 0.373000 124 170 0 0 1 0 0 SHC3 53358 broad.mit.edu 37 9 91657068 91657068 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:91657068C>T ENST00000375835.4 - 10 1539 c.1233G>A c.(1231-1233)ggG>ggA p.G411G SHC3_ENST00000375830.1_5'UTR NM_016848.5 NP_058544.3 Q92529 SHC3_HUMAN SHC (Src homology 2 domain containing) transforming protein 3 411 CH1. central nervous system development|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction cytosol protein binding|signal transducer activity breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|skin(3) 28 CGTGCAGTTTCCCTTCTGGCG 0.577000 49 103 0 0 1 0 0 IFT80 57560 broad.mit.edu 37 3 159995418 159995418 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:159995418G>A ENST00000326448.7 - 17 2309 c.1877C>T c.(1876-1878)gCt>gTt p.A626V IFT80_ENST00000496589.1_Missense_Mutation_p.A489V|RP11-432B6.3_ENST00000483754.1_Missense_Mutation_p.A797V|IFT80_ENST00000483465.1_Missense_Mutation_p.A489V NM_020800.2 NP_065851.1 Q9P2H3 IFT80_HUMAN intraflagellar transport 80 homolog (Chlamydomonas) 626 cilium axoneme|microtubule basal body NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(12)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 36 Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523) ATCTCGATTAGCAACTGCCAT 0.353000 16 46 0 0 1 0 0 EGFLAM 133584 broad.mit.edu 37 5 38458458 38458458 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:38458458C>T ENST00000322350.5 + 20 3079 c.2733C>T c.(2731-2733)tcC>tcT p.S911S EGFLAM_ENST00000514476.1_Silent_p.S54S|EGFLAM_ENST00000506135.1_Silent_p.S54S|EGFLAM_ENST00000336740.6_Silent_p.S677S|EGFLAM_ENST00000354891.3_Silent_p.S919S|EGFLAM_ENST00000397210.3_Silent_p.S54S|EGFLAM_ENST00000397202.2_Silent_p.S277S NM_152403.3 NP_689616.2 Q63HQ2 EGFLA_HUMAN EGF-like, fibronectin type III and laminin G domains 919 Laminin G-like 3. cell junction|proteinaceous extracellular matrix|synapse NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 85 all_lung(31;0.000385) TGAATGGCTCCTTCAACGATG 0.532000 40 199 0 0 1 0 0 IQGAP3 128239 broad.mit.edu 37 1 156507008 156507008 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:156507008G>A ENST00000361170.2 - 27 3397 c.3387C>T c.(3385-3387)ttC>ttT p.F1129F IQGAP3_ENST00000498755.1_5'UTR NM_178229.4 NP_839943.2 Q86VI3 IQGA3_HUMAN IQ motif containing GTPase activating protein 3 1129 Ras-GAP. small GTPase mediated signal transduction intracellular calmodulin binding|Ras GTPase activator activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3) 75 all_hematologic(923;0.088)|Hepatocellular(266;0.158) TGGCTAAAAGGAACTTATCAG 0.577000 28 105 0 0 1 0 0 CFB 629 broad.mit.edu 37 6 31915744 31915744 + Silent SNP C C T rs113410938 TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:31915744C>T ENST00000456570.1 + 18 2344 c.2289C>T c.(2287-2289)atC>atT p.I763I CFB_ENST00000425368.2_Silent_p.I261I|CFB_ENST00000477310.1_Silent_p.I612I|CFB_ENST00000497841.1_3'UTR|CFB_ENST00000556679.1_Silent_p.I763I P00751 CFAB_HUMAN complement factor B 261 complement activation, alternative pathway|proteolysis extracellular region|plasma membrane complement binding|serine-type endopeptidase activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1) 21 AGCGGAAGATCGTCCTGGACC 0.542000 48 159 0 0 1 0 0 SLC45A1 50651 broad.mit.edu 37 1 8397914 8397914 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:8397914G>A ENST00000471889.1 + 7 2021 c.1636G>A c.(1636-1638)Gac>Aac p.D546N SLC45A1_ENST00000377479.2_Missense_Mutation_p.D580N|SLC45A1_ENST00000289877.8_Missense_Mutation_p.D546N Q9Y2W3 S45A1_HUMAN solute carrier family 45, member 1 546 carbohydrate transport integral to membrane symporter activity central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(2) 33 Ovarian(185;0.0661)|all_lung(157;0.127) all_epithelial(116;1.22e-15)|all_lung(118;0.000147)|Lung NSC(185;0.000251)|Renal(390;0.000469)|Colorectal(325;0.00578)|Breast(348;0.00686)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;3.95e-66)|GBM - Glioblastoma multiforme(8;5.93e-33)|Colorectal(212;2.86e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00199)|READ - Rectum adenocarcinoma(331;0.0649) CTTCTACACAGACTTCATGGG 0.572000 65 114 0 0 1 0 0 F2RL2 2151 broad.mit.edu 37 5 75914226 75914226 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:75914226G>A ENST00000296641.4 - 2 509 c.306C>T c.(304-306)ctC>ctT p.L102L IQGAP2_ENST00000502745.1_Intron|F2RL2_ENST00000504899.1_Silent_p.L80L|IQGAP2_ENST00000274364.6_Intron|IQGAP2_ENST00000396234.3_Intron|IQGAP2_ENST00000379730.3_Intron NM_004101.3 NP_004092.1 O00254 PAR3_HUMAN coagulation factor II (thrombin) receptor-like 2 102 platelet activation extracellular region|integral to plasma membrane phosphatidylinositol phospholipase C activity|protein binding|thrombin receptor activity central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(3) 32 all_lung(232;0.000462)|Lung NSC(167;0.00124)|Prostate(461;0.00955)|Ovarian(174;0.0129) all cancers(79;4.43e-43) CAAACACCAGGAGGTAGATGG 0.488000 66 136 0 0 1 0 0 ZNF41 7592 broad.mit.edu 37 X 47307956 47307956 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chrX:47307956G>A ENST00000377065.4 - 5 1852 c.1213C>T c.(1213-1215)Cat>Tat p.H405Y ZNF41_ENST00000313116.7_Missense_Mutation_p.H405Y|ZNF41_ENST00000397050.2_Missense_Mutation_p.H415Y NM_153380.2 NP_700359.1 P51814 ZNF41_HUMAN zinc finger protein 41 447 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|upper_aerodigestive_tract(2) 24 all_lung(315;0.000129) TCTCCGGTATGAGTTTTCTGA 0.423000 21 78 0 0 1 0 0 TMEM255A 55026 broad.mit.edu 37 X 119410875 119410875 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chrX:119410875G>A ENST00000371369.4 - 7 766 c.540C>T c.(538-540)taC>taT p.Y180Y TMEM255A_ENST00000309720.5_Silent_p.Y204Y|TMEM255A_ENST00000371352.1_Silent_p.Y40Y|TMEM255A_ENST00000440464.1_Intron NM_001104544.1 NP_001098014.1 transmembrane protein 255A CGATGTATTCGTAGTACCCAC 0.582000 76 27 0 0 1 0 0 CCDC60 160777 broad.mit.edu 37 12 119773039 119773039 + Missense_Mutation SNP C C G TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:119773039C>G ENST00000327554.2 + 1 523 c.58C>G c.(58-60)Cgg>Ggg p.R20G CCDC60_ENST00000539847.1_Missense_Mutation_p.R20G|CCDC60_ENST00000546345.1_3'UTR|CCDC60_ENST00000536742.1_Missense_Mutation_p.R20G NM_178499.3 NP_848594.2 Q8IWA6 CCD60_HUMAN coiled-coil domain containing 60 20 endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 40 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) BRCA - Breast invasive adenocarcinoma(302;0.207) GGGGGCTGTCCGGCCCTTTTA 0.502000 8 131 0 0 1 0 0 DSG3 1830 broad.mit.edu 37 18 29049213 29049213 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr18:29049213C>T ENST00000257189.4 + 12 1881 c.1798C>T c.(1798-1800)Cca>Tca p.P600S NM_001944.2 NP_001935.2 P32926 DSG3_HUMAN desmoglein 3 600 cellular component disassembly involved in apoptosis|homophilic cell adhesion cytosol|desmosome|integral to membrane calcium ion binding breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1) 62 OV - Ovarian serous cystadenocarcinoma(10;0.00504) AACTTCTTACCCAACCACAAG 0.592000 53 106 0 0 1 0 0 PRR23A 729627 broad.mit.edu 37 3 138724604 138724604 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:138724604C>T ENST00000383163.2 - 1 506 c.507G>A c.(505-507)atG>atA p.M169I NM_001134659.1 NP_001128131.1 A6NEV1 PR23A_HUMAN proline rich 23A 169 endometrium(3)|kidney(1)|lung(7) 11 CTGCGGAGTCCATCTGGAGCT 0.652000 19 27 0 0 1 0 0 FAM217A 222826 broad.mit.edu 37 6 4077644 4077644 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:4077644C>T ENST00000274673.3 - 2 408 c.5G>A c.(4-6)gGg>gAg p.G2E FAM217A_ENST00000380188.2_Intron NM_173563.2 NP_775834.2 Q8IXS0 CF146_HUMAN family with sequence similarity 217, member A 2 ATTTCTTCTCCCCATTTTGTT 0.443000 28 199 0 0 1 0 0 CD5 921 broad.mit.edu 37 11 60892526 60892526 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:60892526G>A ENST00000347785.3 + 9 1468 c.1302G>A c.(1300-1302)acG>acA p.T434T NM_014207.3 NP_055022.2 P06127 CD5_HUMAN CD5 molecule 434 cell proliferation|cell recognition integral to plasma membrane scavenger receptor activity central_nervous_system(1)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 all_lung(304;5.94e-05)|Lung NSC(402;7.26e-05) BRCA - Breast invasive adenocarcinoma(625;0.000946)|Lung(977;0.0086)|LUSC - Lung squamous cell carcinoma(625;0.0528) GCAACCACACGGCAACCGTCC 0.567000 38 77 0 0 1 0 0 SYCP1 6847 broad.mit.edu 37 1 115524123 115524123 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:115524123C>T ENST00000369522.3 + 29 2789 c.2549C>T c.(2548-2550)cCa>cTa p.P850L SYCP1_ENST00000369518.1_Missense_Mutation_p.P850L|SYCP1_ENST00000477590.1_3'UTR NM_003176.2 NP_003167.2 Q15431 SYCP1_HUMAN synaptonemal complex protein 1 850 cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly DNA binding RGS22/SYCP1(2) NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 48 Lung SC(450;0.211) all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) TTATCTACACCATTGCCAAAG 0.323000 4 90 0 0 1 0 0 AKR1B1 231 broad.mit.edu 37 7 134127495 134127495 + Silent SNP G G A rs116049631 byFrequency TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:134127495G>A ENST00000285930.4 - 10 1015 c.936C>T c.(934-936)ttC>ttT p.F312F NM_001628.2 NP_001619.1 P15121 ALDR_HUMAN aldo-keto reductase family 1, member B1 (aldose reductase) 312 C21-steroid hormone biosynthetic process|carbohydrate metabolic process|response to stress cytosol|extracellular space|nucleus alditol:NADP+ 1-oxidoreductase activity|electron carrier activity|protein binding kidney(1)|large_intestine(5)|lung(2)|ovary(3)|prostate(1)|skin(2) 14 NADH(DB00157)|Sulindac(DB00605) ACTCTTCATGGAAGGGGTAAT 0.448000 21 88 0 0 1 0 0 SEC31B 25956 broad.mit.edu 37 10 102256904 102256904 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:102256904G>A ENST00000370345.3 - 17 2221 c.2124C>T c.(2122-2124)ccC>ccT p.P708P NM_015490.3 NP_056305.1 Q9NQW1 SC31B_HUMAN SEC31 homolog B (S. cerevisiae) 708 protein transport|vesicle-mediated transport endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(3)|lung(17)|ovary(1)|urinary_tract(1) 36 Colorectal(252;0.117) Epithelial(162;2.36e-10)|all cancers(201;2.09e-08) GCAGAGCCATGGGGGACAAAG 0.597000 25 56 0 0 1 0 0 ZSCAN5B 342933 broad.mit.edu 37 19 56704233 56704233 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:56704233C>T ENST00000586855.2 - 2 502 c.189G>A c.(187-189)agG>agA p.R63R ZSCAN5B_ENST00000358992.3_Silent_p.R63R A6NJL1 ZSA5B_HUMAN zinc finger and SCAN domain containing 5B 63 SCAN box. viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(5)|large_intestine(3)|lung(23)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 37 CAGTGAGTTTCCTCAGAGCCT 0.537000 43 12 0 0 1 0 0 P4HA1 5033 broad.mit.edu 37 10 74828606 74828606 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:74828606G>A ENST00000412021.2 - 6 794 c.461C>T c.(460-462)cCa>cTa p.P154L P4HA1_ENST00000373008.2_Missense_Mutation_p.P154L|P4HA1_ENST00000263556.3_Missense_Mutation_p.P154L|P4HA1_ENST00000394890.2_Missense_Mutation_p.P154L|P4HA1_ENST00000440381.1_Missense_Mutation_p.P154L|P4HA1_ENST00000307116.2_Missense_Mutation_p.P154L NM_001142595.1 NP_001136067.1 P13674 P4HA1_HUMAN prolyl 4-hydroxylase, alpha polypeptide I 154 endoplasmic reticulum lumen|mitochondrion iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1) 15 Prostate(51;0.0198) Hydralazine(DB01275)|L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126) GATCTTACCTGGAAGATTACC 0.373000 42 113 0 0 1 0 0 THSD4 79875 broad.mit.edu 37 15 71953057 71953057 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr15:71953057G>A ENST00000355327.3 + 8 1475 c.1341G>A c.(1339-1341)aaG>aaA p.K447K THSD4_ENST00000261862.6_Silent_p.K447K|THSD4_ENST00000357769.4_Silent_p.K87K|THSD4_ENST00000567838.1_3'UTR Q6ZMP0 THSD4_HUMAN thrombospondin, type I, domain containing 4 447 proteinaceous extracellular matrix metalloendopeptidase activity breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 AGATGTACAAGAGCAACAACT 0.507000 26 69 0 0 1 0 0 OCLN 100506658 broad.mit.edu 37 5 68840859 68840859 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:68840859G>A ENST00000355237.2 + 6 1602 c.1166G>A c.(1165-1167)aGg>aAg p.R389K OCLN_ENST00000396442.2_Missense_Mutation_p.R389K|OCLN_ENST00000538151.1_Missense_Mutation_p.R138K|OCLN_ENST00000542132.1_Missense_Mutation_p.R67K|OCLN_ENST00000380766.2_Missense_Mutation_p.R335K|OCLN_ENST00000514370.1_3'UTR NM_002538.3 NP_002529.1 Q16625 OCLN_HUMAN occludin 389 cellular component disassembly involved in apoptosis|protein complex assembly integral to membrane|tight junction protein binding|structural molecule activity endometrium(2)|large_intestine(1)|liver(1)|prostate(1)|skin(1) 6 Lung NSC(167;4.15e-05)|Prostate(74;0.00996)|Ovarian(174;0.0448)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;3.04e-60)|Epithelial(20;7.09e-58)|all cancers(19;1.13e-53)|Lung(70;0.0174) AGAGCAGGAAGGTCAAAGAGA 0.517000 6 108 0 0 1 0 0 GRM3 2913 broad.mit.edu 37 7 86416035 86416035 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:86416035C>T ENST00000361669.2 + 3 2026 c.927C>T c.(925-927)atC>atT p.I309I GRM3_ENST00000546348.1_Intron|GRM3_ENST00000536043.1_Silent_p.I181I|GRM3_ENST00000394720.2_Silent_p.I307I|GRM3_ENST00000439827.1_Silent_p.I309I NM_000840.2 NP_000831.2 Q14832 GRM3_HUMAN glutamate receptor, metabotropic 3 309 synaptic transmission integral to plasma membrane NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5) 109 Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142) Acamprosate(DB00659)|Nicotine(DB00184) AGGAGAGCATCATCAAGGGCA 0.682000 36 92 0 0 1 0 0 CA1 759 broad.mit.edu 37 8 86250487 86250487 + Nonsense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:86250487G>A ENST00000523953.1 - 4 1275 c.229C>T c.(229-231)Cga>Tga p.R77* CA1_ENST00000256119.5_Nonsense_Mutation_p.R77*|CA1_ENST00000518341.1_5'UTR|CA1_ENST00000432364.2_Nonsense_Mutation_p.R77*|CA1_ENST00000431316.1_Nonsense_Mutation_p.R77*|CA1_ENST00000523022.1_Nonsense_Mutation_p.R77*|CA1_ENST00000542576.1_Nonsense_Mutation_p.R77*|CA1_ENST00000522389.1_Intron P00915 CAH1_HUMAN carbonic anhydrase I 77 one-carbon metabolic process Golgi apparatus carbonate dehydratase activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1) 13 all_lung(136;4.89e-06) Acetazolamide(DB00819)|Amlodipine(DB00381)|Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Brinzolamide(DB01194)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Dichlorphenamide(DB01144)|Ethinamate(DB01031)|Ethoxzolamide(DB00311)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Levetiracetam(DB01202)|Methazolamide(DB00703)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)|Verapamil(DB00661)|Zonisamide(DB00909) TCACCTGATCGGTTATCGTTG 0.393000 71 112 0 0 1 0 0 TRPM8 79054 broad.mit.edu 37 2 234855796 234855796 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:234855796G>A ENST00000324695.4 + 8 979 c.939G>A c.(937-939)ttG>ttA p.L313L AC005538.5_ENST00000455991.1_RNA|TRPM8_ENST00000433712.2_5'UTR NM_024080.4 NP_076985.4 Q7Z2W7 TRPM8_HUMAN transient receptor potential cation channel, subfamily M, member 8 313 integral to membrane breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2) 66 Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224) Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108) Menthol(DB00825) AAGAGACTTTGAAAGTGAGTC 0.363000 25 49 0 0 1 0 0 TACC2 10579 broad.mit.edu 37 10 123848075 123848075 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:123848075G>A ENST00000369005.1 + 5 5882 c.5542G>A c.(5542-5544)Gat>Aat p.D1848N TACC2_ENST00000358010.1_Intron|TACC2_ENST00000515603.1_Missense_Mutation_p.D1848N|TACC2_ENST00000334433.3_Missense_Mutation_p.D1848N|TACC2_ENST00000515273.1_Missense_Mutation_p.D1848N|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000453444.2_Missense_Mutation_p.D1848N NM_206862.2 NP_996744.2 O95359 TACC2_HUMAN transforming, acidic coiled-coil containing protein 2 1848 microtubule organizing center|nucleus nuclear hormone receptor binding NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 83 all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197) AGTCACTTCAGATGAGACCAG 0.468000 17 35 0 0 1 0 0 RPS6KC1 26750 broad.mit.edu 37 1 213414538 213414538 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:213414538C>T ENST00000366960.3 + 11 1869 c.1719C>T c.(1717-1719)ttC>ttT p.F573F RPS6KC1_ENST00000543470.1_Silent_p.F361F|RPS6KC1_ENST00000543354.1_Silent_p.F276F|RPS6KC1_ENST00000366959.3_Silent_p.F561F|RPS6KC1_ENST00000490299.1_3'UTR NM_012424.3 NP_036556.2 Q96S38 KS6C1_HUMAN ribosomal protein S6 kinase, 52kDa, polypeptide 1 573 cell communication|signal transduction early endosome|membrane ATP binding|phosphatidylinositol binding|protein binding|protein serine/threonine kinase activity breast(1)|endometrium(6)|kidney(4)|large_intestine(8)|liver(2)|lung(15)|ovary(3)|prostate(1)|urinary_tract(3) 43 OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145) TGAAGTTCTTCCCCAACGATG 0.463000 25 81 0 0 1 0 0 SFTPD 6441 broad.mit.edu 37 10 81702545 81702545 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:81702545C>T ENST00000372292.3 - 3 330 c.290G>A c.(289-291)gGa>gAa p.G97E NM_003019.4 NP_003010.4 P35247 SFTPD_HUMAN surfactant protein D 97 Collagen-like. cell junction assembly|innate immune response|lung alveolus development|macrophage chemotaxis|negative regulation of interleukin-2 biosynthetic process|negative regulation of T cell proliferation|positive regulation of phagocytosis|reactive oxygen species metabolic process|receptor-mediated endocytosis|respiratory gaseous exchange|surfactant homeostasis collagen|endocytic vesicle|extracellular space|lysosome bacterial cell surface binding|protein binding|sugar binding endometrium(1)|kidney(3)|large_intestine(5)|lung(3)|skin(4)|urinary_tract(1) 17 Breast(12;0.000615)|Prostate(51;0.0095)|all_epithelial(25;0.027) Epithelial(14;0.0244)|all cancers(16;0.0558)|Colorectal(32;0.109) TCCCTTTGGTCCAGGTTCTCC 0.597000 11 164 0 0 1 0 0 SLC47A1 55244 broad.mit.edu 37 17 19458618 19458618 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:19458618G>A ENST00000270570.4 + 7 723 c.637G>A c.(637-639)Gtg>Atg p.V213M SLC47A1_ENST00000575023.1_Intron|SLC47A1_ENST00000457293.1_Missense_Mutation_p.V213M|SLC47A1_ENST00000395585.1_Missense_Mutation_p.V213M|SLC47A1_ENST00000542886.1_Intron|SLC47A1_ENST00000436810.2_Missense_Mutation_p.V190M|SLC47A1_ENST00000571335.1_Intron|SLC47A1_ENST00000584348.1_3'UTR NM_018242.2 NP_060712.2 Q96FL8 S47A1_HUMAN solute carrier family 47 (multidrug and toxin extrusion), member 1 213 integral to membrane|plasma membrane drug:hydrogen antiporter activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(5)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1) 23 all_cancers(12;2.49e-05)|all_epithelial(12;0.00263)|Hepatocellular(7;0.00345) GCATCTTGGGGTGATGTGAGT 0.502000 60 122 0 0 1 0 0 CPXM2 119587 broad.mit.edu 37 10 125506413 125506413 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:125506413C>T ENST00000241305.3 - 14 2292 c.2138G>A c.(2137-2139)aGg>aAg p.R713K CPXM2_ENST00000368854.3_Intron NM_198148.2 NP_937791.2 Q8N436 CPXM2_HUMAN carboxypeptidase X (M14 family), member 2 713 cell adhesion|proteolysis extracellular space metallocarboxypeptidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3) 47 all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233) COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237) GAAGTCACACCTTGTGGCCCC 0.552000 11 262 0 0 1 0 0 OR8H1 219469 broad.mit.edu 37 11 56058536 56058536 + Translation_Start_Site SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:56058536C>T ENST00000313022.2 - 1 30 c.3G>A c.(1-3)atG>atA p.M1I NM_001005199.1 NP_001005199.1 Q8NGG4 OR8H1_HUMAN olfactory receptor, family 8, subfamily H, member 1 1 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.M1I(1) NS(2)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 Esophageal squamous(21;0.00448) TTCTTCTACCCATGATGTTCA 0.353000 35 92 0 0 1 0 0 KCNB2 9312 broad.mit.edu 37 8 73480322 73480322 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:73480322C>T ENST00000523207.1 + 2 941 c.353C>T c.(352-354)tCg>tTg p.S118L NM_004770.2 NP_004761.2 Q92953 KCNB2_HUMAN potassium voltage-gated channel, Shab-related subfamily, member 2 118 regulation of smooth muscle contraction voltage-gated potassium channel complex delayed rectifier potassium channel activity|protein binding p.S118L(1) NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1) 85 Breast(64;0.137) Epithelial(68;0.105) TGTGCACTTTCGTTTGGCCAA 0.423000 37 88 0 0 1 0 0 ZDHHC9 51114 broad.mit.edu 37 X 128946727 128946727 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chrX:128946727G>A ENST00000357166.6 - 8 1135 c.744C>T c.(742-744)ttC>ttT p.F248F ZDHHC9_ENST00000371064.3_Silent_p.F248F NM_016032.3 NP_057116.2 Q9Y397 ZDHC9_HUMAN zinc finger, DHHC-type containing 9 248 endoplasmic reticulum membrane|Golgi membrane|integral to membrane acyltransferase activity|zinc ion binding breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1) 19 GAGCCACGAGGAAAGTATGAA 0.458000 26 126 0 0 1 0 0 MUC4 4585 broad.mit.edu 37 3 195517704 195517704 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:195517704G>A ENST00000463781.3 - 2 1206 c.747C>T c.(745-747)tcC>tcT p.S249S MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Silent_p.S249S|MUC4_ENST00000346145.4_Intron NM_018406.6 NP_060876.5 Q99102 MUC4_HUMAN mucin 4, cell surface associated 254 cell-matrix adhesion integral to plasma membrane|proteinaceous extracellular matrix ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;2.37e-05) CACTACAGAGGGATGAGGTAG 0.468000 8 120 0 0 1 0 0 MAT2B 27430 broad.mit.edu 37 5 162944662 162944662 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:162944662C>T ENST00000280969.5 + 6 1064 c.783C>T c.(781-783)ccC>ccT p.P261P MAT2B_ENST00000518731.1_Intron|MAT2B_ENST00000321757.6_Silent_p.P272P|MAT2B_ENST00000518095.1_3'UTR|MAT2B_ENST00000521838.1_3'UTR NM_182796.1 NP_877725.1 Q9NZL9 MAT2B_HUMAN methionine adenosyltransferase II, beta 272 extracellular polysaccharide biosynthetic process|methylation|S-adenosylmethionine biosynthetic process|xenobiotic metabolic process cytosol|methionine adenosyltransferase complex|nucleus dTDP-4-dehydrorhamnose reductase activity|methionine adenosyltransferase regulator activity|protein binding endometrium(3)|large_intestine(4)|lung(6)|upper_aerodigestive_tract(1) 14 Renal(175;0.000281) Medulloblastoma(196;0.0208)|all_neural(177;0.0765) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.027)|OV - Ovarian serous cystadenocarcinoma(192;0.0406)|Epithelial(171;0.0797) L-Methionine(DB00134)|S-Adenosylmethionine(DB00118) TCAACCTCCCCAGCAGTCACT 0.403000 14 40 0 0 1 0 0 CDH10 1008 broad.mit.edu 37 5 24498624 24498624 + Missense_Mutation SNP A A T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:24498624A>T ENST00000264463.4 - 9 1905 c.1398T>A c.(1396-1398)aaT>aaA p.N466K CDH10_ENST00000502921.1_5'UTR NM_006727.3 NP_006718.2 Q9Y6N8 CAD10_HUMAN cadherin 10, type 2 (T2-cadherin) 466 Cadherin 4. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4) 185 STAD - Stomach adenocarcinoma(35;0.0556) TCTCTTTGGGATTGTCTGGAA 0.368000 HNSCC(23;0.051) 23 49 0 0 1 0 0 ILDR1 286676 broad.mit.edu 37 3 121712238 121712238 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:121712238C>T ENST00000273691.3 - 6 1331 c.1226G>A c.(1225-1227)cGg>cAg p.R409Q ILDR1_ENST00000344209.5_Missense_Mutation_p.R453Q|ILDR1_ENST00000460554.1_5'UTR|ILDR1_ENST00000462014.1_Missense_Mutation_p.R421Q|ILDR1_ENST00000393631.1_Missense_Mutation_p.R364Q NM_175924.3 NP_787120.1 Q86SU0 ILDR1_HUMAN immunoglobulin-like domain containing receptor 1 453 cytosol|integral to membrane|plasma membrane receptor activity central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 GBM - Glioblastoma multiforme(114;0.156) AGTGCTCTCCCGGGGGCTGGG 0.672000 10 38 0 0 1 0 0 ACSS3 79611 broad.mit.edu 37 12 81472039 81472039 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:81472039G>A ENST00000548058.1 + 1 1050 c.140G>A c.(139-141)gGg>gAg p.G47E ACSS3_ENST00000261206.3_Missense_Mutation_p.G47E Q9H6R3 ACSS3_HUMAN acyl-CoA synthetase short-chain family member 3 47 mitochondrion acetate-CoA ligase activity|ATP binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2) 51 GGCGGTCTCGGGGGCCGGGGA 0.736000 14 18 0 0 1 0 0 F5 2153 broad.mit.edu 37 1 169509545 169509545 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:169509545C>T ENST00000367796.3 - 13 4999 c.4798G>A c.(4798-4800)Gaa>Aaa p.E1600K F5_ENST00000367797.3_Missense_Mutation_p.E1595K P12259 FA5_HUMAN coagulation factor V (proaccelerin, labile factor) 1595 F5/8 type A 3.|Plastocyanin-like 5. cell adhesion|platelet activation|platelet degranulation plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1) 128 all_hematologic(923;0.208) Drotrecogin alfa(DB00055) TGTACAAATTCTGAATAATCC 0.383000 15 143 0 0 1 0 0 STARD13 90627 broad.mit.edu 37 13 33704351 33704351 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr13:33704351G>A ENST00000336934.5 - 5 579 c.463C>T c.(463-465)Cgt>Tgt p.R155C STARD13_ENST00000255486.4_Missense_Mutation_p.R147C|STARD13_ENST00000399365.3_Missense_Mutation_p.R37C NM_001243476.1|NM_178006.3 NP_001230405.1|NP_821074.1 Q9Y3M8 STA13_HUMAN StAR-related lipid transfer (START) domain containing 13 155 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|lipid particle|mitochondrial membrane GTPase activator activity|protein binding breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1) 40 all_epithelial(80;0.155) Lung SC(185;0.0367) all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143) TCGTCCACACGAGACCACCTG 0.557000 15 52 0 0 1 0 0 KCNU1 157855 broad.mit.edu 37 8 36788640 36788640 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:36788640G>A ENST00000399881.3 + 25 2945 c.2908G>A c.(2908-2910)Gaa>Aaa p.E970K KCNU1_ENST00000518904.1_3'UTR NM_001031836.2 NP_001027006.2 A8MYU2 KCNU1_HUMAN potassium channel, subfamily U, member 1 970 voltage-gated potassium channel complex binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1) 57 KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634) GTCCTTACACGAAACCATTTT 0.423000 59 142 0 0 1 0 0 LPHN2 23266 broad.mit.edu 37 1 82372866 82372866 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:82372866G>A ENST00000370728.1 + 6 883 c.238G>A c.(238-240)Gag>Aag p.E80K LPHN2_ENST00000335786.5_Missense_Mutation_p.E80K|LPHN2_ENST00000271029.4_Missense_Mutation_p.E80K|LPHN2_ENST00000394879.1_Missense_Mutation_p.E80K|LPHN2_ENST00000370713.1_Missense_Mutation_p.E80K|LPHN2_ENST00000370717.2_Missense_Mutation_p.E80K|LPHN2_ENST00000370730.1_Missense_Mutation_p.E80K|LPHN2_ENST00000370723.1_Missense_Mutation_p.E80K|LPHN2_ENST00000469377.2_3'UTR|LPHN2_ENST00000370727.1_Missense_Mutation_p.E80K|LPHN2_ENST00000370715.1_Missense_Mutation_p.E80K|LPHN2_ENST00000370725.1_Missense_Mutation_p.E80K|LPHN2_ENST00000359929.3_Missense_Mutation_p.E80K|LPHN2_ENST00000370721.1_Missense_Mutation_p.E80K|LPHN2_ENST00000319517.6_Missense_Mutation_p.E80K O95490 LPHN2_HUMAN latrophilin 2 80 SUEL-type lectin. neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 119 all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248) ATTTCAGATGGAGAATACAGA 0.423000 47 82 0 0 1 0 0 OR6C65 403282 broad.mit.edu 37 12 55795205 55795205 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:55795205C>T ENST00000379665.2 + 1 992 c.893C>T c.(892-894)gCc>gTc p.A298V NM_001005518.1 NP_001005518.1 A6NJZ3 O6C65_HUMAN olfactory receptor, family 6, subfamily C, member 65 298 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(2)|large_intestine(3)|lung(9) 15 GTGAAACAGGCCCTTAGGGAA 0.363000 17 53 0 0 1 0 0 HIVEP3 59269 broad.mit.edu 37 1 42048894 42048894 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:42048894G>A ENST00000372584.1 - 3 2589 c.1575C>T c.(1573-1575)ctC>ctT p.L525L HIVEP3_ENST00000247584.5_Silent_p.L525L|HIVEP3_ENST00000429157.2_Silent_p.L525L|HIVEP3_ENST00000372583.1_Silent_p.L525L NM_001127714.2 NP_001121186.1 Q5T1R4 ZEP3_HUMAN human immunodeficiency virus type I enhancer binding protein 3 525 No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN (By similarity). positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 85 Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0367) GCGGGTGCTGGAGGCTCAGCA 0.627000 21 125 0 0 1 0 0 IL21R 50615 broad.mit.edu 37 16 27457334 27457334 + Nonsense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr16:27457334G>A ENST00000337929.3 + 8 1265 c.792G>A c.(790-792)tgG>tgA p.W264* IL21R_ENST00000395754.4_Nonsense_Mutation_p.W264*|IL21R_ENST00000395755.1_Nonsense_Mutation_p.W264*|IL21R_ENST00000564583.1_3'UTR|IL21R_ENST00000564089.1_Nonsense_Mutation_p.W264* NM_181078.2 NP_851564.1 Q9HBE5 IL21R_HUMAN interleukin 21 receptor 264 natural killer cell activation integral to membrane interleukin-21 receptor activity breast(2)|large_intestine(3)|lung(1)|ovary(2) 8 TCAGGCTATGGAAGAAGATAT 0.617000 T BCL6 NHL 18 51 0 0 1 0 0 PIEZO2 63895 broad.mit.edu 37 18 10680341 10680341 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr18:10680341C>T ENST00000302079.6 - 47 7278 c.7279G>A c.(7279-7281)Gaa>Aaa p.E2427K PIEZO2_ENST00000285141.4_Missense_Mutation_p.E282K|PIEZO2_ENST00000580640.1_Missense_Mutation_p.E2515K|PIEZO2_ENST00000581680.1_5'UTR|PIEZO2_ENST00000538948.1_Missense_Mutation_p.E447K|PIEZO2_ENST00000503781.3_Missense_Mutation_p.E2490K Q9H5I5 PIEZ2_HUMAN piezo-type mechanosensitive ion channel component 2 2490 integral to membrane ion channel activity TCTTCTTTTTCATAATTTTCC 0.388000 33 75 0 0 1 0 0 KIAA1462 57608 broad.mit.edu 37 10 30315686 30315686 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:30315686G>A ENST00000375377.1 - 3 3492 c.3391C>T c.(3391-3393)Cgc>Tgc p.R1131C NM_020848.2 NP_065899.1 Q9P266 K1462_HUMAN KIAA1462 1131 breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1) 75 GGTGCTGGGCGAGATAGCAAC 0.632000 58 108 0 0 1 0 0 GRM5 2915 broad.mit.edu 37 11 88330446 88330446 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:88330446C>T ENST00000418177.2 - 6 1836 c.1469G>A c.(1468-1470)gGa>gAa p.G490E GRM5_ENST00000393297.1_Missense_Mutation_p.G490E|GRM5_ENST00000455756.2_Missense_Mutation_p.G490E|GRM5_ENST00000305432.5_Missense_Mutation_p.G490E|GRM5_ENST00000305447.4_Missense_Mutation_p.G490E P41594 GRM5_HUMAN glutamate receptor, metabotropic 5 490 activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 90 Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834) Acamprosate(DB00659) TTTTAATTCTCCATTGTCCCA 0.333000 23 52 0 0 1 0 0 GMFG 9535 broad.mit.edu 37 19 39826164 39826164 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:39826164G>A ENST00000598034.1 - 2 40 c.11C>T c.(10-12)tCc>tTc p.S4F GMFG_ENST00000601387.1_Intron|GMFG_ENST00000597595.1_Missense_Mutation_p.S4F|GMFG_ENST00000595636.1_Missense_Mutation_p.S4F|GMFG_ENST00000594700.1_Missense_Mutation_p.S4F|GMFG_ENST00000253054.8_5'UTR|GMFG_ENST00000602185.1_Intron|GMFG_ENST00000600322.1_5'UTR O60234 GMFG_HUMAN glia maturation factor, gamma 4 ADF-H. protein phosphorylation intracellular actin binding|enzyme activator activity|growth factor activity|protein kinase inhibitor activity breast(1)|large_intestine(2)|liver(2)|lung(3)|skin(1)|stomach(1) 10 all_cancers(60;2.5e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512) Epithelial(26;1.15e-27)|all cancers(26;1.3e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335) CACCACCAGGGAGTCAGACTG 0.537000 8 141 0 0 1 0 0 ANK2 287 broad.mit.edu 37 4 114294270 114294270 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:114294270C>T ENST00000357077.4 + 44 11688 c.11635C>T c.(11635-11637)Cca>Tca p.P3879S ANK2_ENST00000506722.1_Missense_Mutation_p.P1785S|ANK2_ENST00000394537.3_Missense_Mutation_p.P1794S|ANK2_ENST00000264366.6_Missense_Mutation_p.P3846S|ANK2_ENST00000510275.2_Missense_Mutation_p.P477S|ANK2_ENST00000509550.1_Missense_Mutation_p.P970S NM_001148.4 NP_001139.3 Q01484 ANK2_HUMAN ankyrin 2, neuronal 3846 axon guidance|signal transduction apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere protein binding NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10) 248 Ovarian(17;0.0448)|Hepatocellular(203;0.218) OV - Ovarian serous cystadenocarcinoma(123;4.92e-05) TGAAATACCCCCAGAAACAGT 0.423000 15 150 0 0 1 0 0 NKAIN2 154215 broad.mit.edu 37 6 124979452 124979452 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:124979452C>T ENST00000368417.1 + 4 454 c.394C>T c.(394-396)Cgc>Tgc p.R132C NKAIN2_ENST00000368416.1_Missense_Mutation_p.R132C|NKAIN2_ENST00000546092.1_Intron|NKAIN2_ENST00000545433.1_Missense_Mutation_p.R117C NM_001040214.1 NP_001035304.1 Q5VXU1 NKAI2_HUMAN Na+/K+ transporting ATPase interacting 2 132 integral to membrane|plasma membrane cervix(1)|endometrium(1)|large_intestine(3)|lung(12)|skin(2) 19 GBM - Glioblastoma multiforme(226;0.104) AGAAGACCATCGCTACATCAC 0.517000 26 67 0 0 1 0 0 NAV3 89795 broad.mit.edu 37 12 78582433 78582433 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:78582433C>T ENST00000397909.2 + 33 6104 c.5931C>T c.(5929-5931)agC>agT p.S1977S NAV3_ENST00000228327.6_Silent_p.S1955S|NAV3_ENST00000552300.1_Intron|NAV3_ENST00000266692.7_Silent_p.S1778S|NAV3_ENST00000536525.2_Silent_p.S1955S Q8IVL0 NAV3_HUMAN neuron navigator 3 1977 nuclear outer membrane ATP binding|nucleoside-triphosphatase activity NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1) 236 TTGGTCTGAGCTCTGACTGCA 0.388000 HNSCC(70;0.22) 45 103 0 0 1 0 0 PCLO 27445 broad.mit.edu 37 7 82582544 82582544 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:82582544G>A ENST00000423517.2 - 5 8062 c.7725C>T c.(7723-7725)tcC>tcT p.S2575S PCLO_ENST00000333891.8_Silent_p.S2575S NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 2506 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 TTTCTGTGAGGGATTTGGAAA 0.433000 70 205 0 0 1 0 0 TRIM42 287015 broad.mit.edu 37 3 140407271 140407271 + Missense_Mutation SNP T T A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:140407271T>A ENST00000286349.3 + 3 1938 c.1747T>A c.(1747-1749)Tct>Act p.S583T NM_152616.4 NP_689829.3 Q8IWZ5 TRI42_HUMAN tripartite motif containing 42 583 intracellular zinc ion binding breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 AGACAGCCAGTCTGTACAGAA 0.577000 54 126 0 0 1 0 0 CFHR5 81494 broad.mit.edu 37 1 196973938 196973938 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:196973938G>A ENST00000367414.5 + 9 1606 c.1550G>A c.(1549-1551)aGa>aAa p.R517K CFHR5_ENST00000256785.4_Missense_Mutation_p.R493K NM_030787.3 NP_110414.1 Q9BXR6 FHR5_HUMAN complement factor H-related 5 493 Sushi 9. complement activation, alternative pathway extracellular region NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2) 49 GTAACATGCAGAAATAAACAG 0.393000 65 59 0 0 1 0 0 HRH1 3269 broad.mit.edu 37 3 11301936 11301936 + Silent SNP T T C TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:11301936T>C ENST00000397056.1 + 3 1404 c.1213T>C c.(1213-1215)Ttg>Ctg p.L405L HRH1_ENST00000431010.2_Silent_p.L405L|HRH1_ENST00000438284.2_Silent_p.L405L NM_000861.3|NM_001098211.1 NP_000852.1|NP_001091681.1 P35367 HRH1_HUMAN histamine receptor H1 405 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|inflammatory response cytoplasm|integral to plasma membrane|nucleus histamine receptor activity autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 25 Aceprometazine(DB01615)|Astemizole(DB00637)|Azatadine(DB00719)|Azelastine(DB00972)|Benzquinamide(DB00767)|Bepotastine(DB04890)|Bromodiphenhydramine(DB01237)|Brompheniramine(DB00835)|Buclizine(DB00354)|Carbinoxamine(DB00748)|Cetirizine(DB00341)|Chlophedianol(DB04837)|Chlorpheniramine(DB01114)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clemastine(DB00283)|Clozapine(DB00363)|Cyclizine(DB01176)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexbrompheniramine(DB00405)|Dimenhydrinate(DB00985)|Diphenhydramine(DB01075)|Diphenylpyraline(DB01146)|Doxepin(DB01142)|Doxylamine(DB00366)|Emedastine(DB01084)|Epinastine(DB00751)|Fexofenadine(DB00950)|Flunarizine(DB04841)|Histamine Phosphate(DB00667)|Hydroxyzine(DB00557)|Ketotifen(DB00920)|Levocabastine(DB01106)|Loratadine(DB00455)|Maprotiline(DB00934)|Meclizine(DB00737)|Mequitazine(DB01071)|Methdilazine(DB00902)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Nedocromil(DB00716)|Olanzapine(DB00334)|Olopatadine(DB00768)|Orphenadrine(DB01173)|Pemirolast(DB00885)|Phenindamine(DB01619)|Pheniramine(DB01620)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Terfenadine(DB00342)|Thiethylperazine(DB00372)|Trazodone(DB00656)|Trimeprazine(DB01246)|Tripelennamine(DB00792)|Triprolidine(DB00427)|Ziprasidone(DB00246) TGTATCTGGGTTGCACATGAA 0.478000 69 145 0 0 1 0 0 TSSC2 650368 broad.mit.edu 37 11 3427759 3427759 + RNA SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:3427759C>T ENST00000529482.1 + 0 876 TGTCTGCACACGTCCTGCAGT 0.612000 4 55 0 0 1 0 0 KRT28 162605 broad.mit.edu 37 17 38953243 38953243 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:38953243G>A ENST00000306658.7 - 5 968 c.903C>T c.(901-903)ttC>ttT p.F301F NM_181535.3 NP_853513.2 Q7Z3Y7 K1C28_HUMAN keratin 28 301 Coil 2.|Rod. cytoplasm|intermediate filament structural molecule activity NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 30 Breast(137;0.000301) GGCTCCGGGCGAAAGTGGCTG 0.657000 45 66 0 0 1 0 0 NTRK2 4915 broad.mit.edu 37 9 87482301 87482301 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:87482301C>T ENST00000304053.6 + 14 2071 c.1588C>T c.(1588-1590)Ccc>Tcc p.P530S NTRK2_ENST00000277120.3_Missense_Mutation_p.P530S|NTRK2_ENST00000376208.1_Missense_Mutation_p.P514S|NTRK2_ENST00000376214.1_Missense_Mutation_p.P530S|NTRK2_ENST00000323115.4_Missense_Mutation_p.P514S|NTRK2_ENST00000376213.1_Missense_Mutation_p.P514S NM_001018065.2 NP_001018075.1 Q16620 NTRK2_HUMAN neurotrophic tyrosine kinase, receptor, type 2 514 activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development integral to plasma membrane ATP binding|neurotrophin receptor activity|transmembrane receptor protein tyrosine kinase activity breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(2) 46 CATTGAAAATCCCCAGTACTT 0.453000 TSP Lung(25;0.17) 9 205 0 0 1 0 0 MYH8 4626 broad.mit.edu 37 17 10296256 10296256 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:10296256C>T ENST00000403437.2 - 37 5449 c.5355G>A c.(5353-5355)atG>atA p.M1785I CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA NM_002472.2 NP_002463.2 P13535 MYH8_HUMAN myosin, heavy chain 8, skeletal muscle, perinatal 1785 muscle filament sliding cytosol|muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2) 134 GGTTCTTCTTCATCCGCTCCA 0.517000 Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling 78 154 0 0 1 0 0 DMTN 2039 broad.mit.edu 37 8 21926571 21926571 + Splice_Site SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:21926571G>A ENST00000358242.3 + 5 787 c.294_splice c.e5+1 p.E98_splice DMTN_ENST00000432128.1_Splice_Site_p.E98_splice|DMTN_ENST00000381470.3_Splice_Site_p.E98_splice|DMTN_ENST00000517600.1_Intron|DMTN_ENST00000265800.5_Splice_Site_p.E98_splice|DMTN_ENST00000415253.1_Splice_Site_p.E98_splice|DMTN_ENST00000519907.1_Splice_Site_p.E98_splice|DMTN_ENST00000523266.1_Splice_Site_p.E98_splice|DMTN_ENST00000523782.2_Splice_Site_p.E73_splice|DMTN_ENST00000443491.2_Splice_Site_p.E73_splice dematin actin binding protein CATCCCCAGAGGTGAGTCTGC 0.617000 41 68 0 0 1 0 0 ANO4 121601 broad.mit.edu 37 12 101490332 101490332 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:101490332C>T ENST00000392979.3 + 18 2013 c.1652C>T c.(1651-1653)tCt>tTt p.S551F ANO4_ENST00000299222.9_Missense_Mutation_p.S106F|ANO4_ENST00000392977.3_Missense_Mutation_p.S586F|ANO4_ENST00000550015.1_Missense_Mutation_p.S106F NM_178826.3 NP_849148.2 Q32M45 ANO4_HUMAN anoctamin 4 586 chloride channel complex chloride channel activity NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1) 78 CGCACAGAGTCTGAGTGGGAG 0.468000 HNSCC(74;0.22) 33 61 0 0 1 0 0 NPAP1 23742 broad.mit.edu 37 15 24923051 24923051 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr15:24923051C>T ENST00000329468.2 + 1 2511 c.2037C>T c.(2035-2037)tcC>tcT p.S679S NM_018958.2 NP_061831.2 nuclear pore associated protein 1 CAGACACCTCCACTTTAGTGA 0.512000 55 155 0 0 1 0 0 FAM83G 644815 broad.mit.edu 37 17 18881851 18881851 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:18881851C>T ENST00000388995.6 - 5 1351 c.1128G>A c.(1126-1128)ctG>ctA p.L376L SLC5A10_ENST00000317977.6_Intron|SLC5A10_ENST00000395647.2_Intron|SLC5A10_ENST00000395645.3_Intron|SLC5A10_ENST00000395643.2_Intron|SLC5A10_ENST00000417251.2_Intron|FAM83G_ENST00000345041.4_Silent_p.L376L|SLC5A10_ENST00000395642.1_Intron|FAM83G_ENST00000585154.2_Silent_p.L376L A6ND36 FA83G_HUMAN family with sequence similarity 83, member G 376 central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(3)|stomach(1) 22 CTGGGCCTTTCAGCCCCAGGG 0.602000 25 53 0 0 1 0 0 PAPPA2 60676 broad.mit.edu 37 1 176708892 176708892 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:176708892C>T ENST00000367662.3 + 13 5093 c.3929C>T c.(3928-3930)tCt>tTt p.S1310F NM_020318.2 NP_064714.2 Q9BXP8 PAPP2_HUMAN pappalysin 2 1310 cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1) 226 AGCAACCACTCTCTTGGTGAG 0.478000 45 44 0 0 1 0 0 PCDHGA11 56105 broad.mit.edu 37 5 140803058 140803058 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:140803058C>T ENST00000398587.2 + 1 2297 c.2264C>T c.(2263-2265)tCc>tTc p.S755F PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGB6_ENST00000520790.1_Intron NM_018914.2|NM_032092.1 NP_061737.1|NP_114481.1 breast(3)|endometrium(8)|kidney(3)|large_intestine(9)|lung(22)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1) 49 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CAAACCTATTCCCACGAGGTC 0.562000 44 83 0 0 1 0 0 EIF3L 51386 broad.mit.edu 37 22 38282794 38282794 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr22:38282794C>T ENST00000412331.2 + 12 2180 c.1598C>T c.(1597-1599)aCc>aTc p.T533I EIF3L_ENST00000381683.6_Missense_Mutation_p.T485I|EIF3L_ENST00000406934.1_Missense_Mutation_p.T435I NM_016091.3 NP_057175.1 Q9Y262 EIF3L_HUMAN eukaryotic translation initiation factor 3, subunit L 533 eukaryotic translation initiation factor 3 complex protein binding|translation initiation factor activity kidney(2)|large_intestine(3)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 ATCGCGGACACCAAGGTCGCC 0.557000 7 84 0 0 1 0 0 FZD7 8324 broad.mit.edu 37 2 202899514 202899514 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:202899514C>T ENST00000286201.1 + 1 205 c.144C>T c.(142-144)ttC>ttT p.F48F NM_003507.1 NP_003498.1 O75084 FZD7_HUMAN frizzled family receptor 7 48 FZ. axonogenesis|brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|mesenchymal to epithelial transition|negative regulation of cell-substrate adhesion|negative regulation of ectodermal cell fate specification|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of phosphorylation|positive regulation of transcription, DNA-dependent|regulation of catenin import into nucleus|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway apical part of cell|cytoplasm|integral to membrane|neuron projection membrane G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding breast(1)|endometrium(6)|large_intestine(6)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2) 31 ACCACGGCTTCTGCCAGCCCA 0.692000 41 96 0 0 1 0 0 DNAH11 8701 broad.mit.edu 37 7 21882170 21882170 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:21882170G>A ENST00000328843.6 + 67 10752 c.10721G>A c.(10720-10722)aGg>aAg p.R3574K DNAH11_ENST00000409508.3_Missense_Mutation_p.R3567K Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 3574 AAA 5 (By similarity). microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 230 AGGTATATCAGGATTGGAGAT 0.388000 Kartagener syndrome 24 54 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179435476 179435476 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:179435476G>A ENST00000589042.1 - 326 75607 c.75383C>T c.(75382-75384)tCa>tTa p.S25128L TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.S16188L|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.S23487L|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.S22560L|TTN_ENST00000460472.2_Missense_Mutation_p.S16063L|TTN_ENST00000342175.6_Missense_Mutation_p.S16255L|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 23487 Fibronectin type-III 82. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) AACCTTGAATGATTCACCAGC 0.398000 64 140 0 0 1 0 0 S100PBP 64766 broad.mit.edu 37 1 33291774 33291774 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:33291774C>T ENST00000373475.5 + 3 328 c.74C>T c.(73-75)tCt>tTt p.S25F S100PBP_ENST00000373476.1_Missense_Mutation_p.S25F|S100PBP_ENST00000398243.3_Missense_Mutation_p.S25F|S100PBP_ENST00000356689.3_3'UTR NM_022753.3 NP_073590.2 Q96BU1 S1PBP_HUMAN S100P binding protein 25 nucleus calcium-dependent protein binding endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|stomach(1) 16 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244) GCCCCATTTTCTTGGGATTCC 0.463000 39 95 0 0 1 0 0 SEC22A 26984 broad.mit.edu 37 3 122928133 122928133 + Missense_Mutation SNP T T A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:122928133T>A ENST00000309934.4 + 1 965 c.69T>A c.(67-69)gaT>gaA p.D23E SEC22A_ENST00000481965.2_Missense_Mutation_p.D23E|SEC22A_ENST00000492595.1_Missense_Mutation_p.D23E|SEC22A_ENST00000477063.1_3'UTR NM_012430.4 NP_036562.2 Q96IW7 SC22A_HUMAN SEC22 vesicle trafficking protein homolog A (S. cerevisiae) 23 Longin. ER to Golgi vesicle-mediated transport|protein transport endoplasmic reticulum membrane|integral to membrane transporter activity NS(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1) 10 GBM - Glioblastoma multiforme(114;0.0548) CTTCTACTGATTATGAACAAA 0.393000 44 71 0 0 1 0 0 DNTTIP1 116092 broad.mit.edu 37 20 44439732 44439732 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr20:44439732C>T ENST00000372622.3 + 13 956 c.888C>T c.(886-888)tcC>tcT p.S296S NM_052951.2 NP_443183.1 Q9H147 TDIF1_HUMAN deoxynucleotidyltransferase, terminal, interacting protein 1 296 nucleus breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|prostate(1) 9 Myeloproliferative disorder(115;0.0122) AATTGAAATCCTTTGTCCTAC 0.493000 75 99 0 0 1 0 0 ELTD1 64123 broad.mit.edu 37 1 79403918 79403918 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:79403918C>T ENST00000370742.3 - 5 506 c.443G>A c.(442-444)aGa>aAa p.R148K NM_022159.3 NP_071442.2 Q9HBW9 ELTD1_HUMAN EGF, latrophilin and seven transmembrane domain containing 1 148 neuropeptide signaling pathway integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 69 COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148) CACAGAATTTCTATAGACTTC 0.318000 19 39 0 0 1 0 0 ANKS1B 56899 broad.mit.edu 37 12 100166859 100166859 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:100166859G>A ENST00000547776.2 - 8 968 c.969C>T c.(967-969)acC>acT p.T323T ANKS1B_ENST00000547010.1_Intron|ANKS1B_ENST00000329257.7_Silent_p.T323T NM_152788.4 NP_690001.3 Q7Z6G8 ANS1B_HUMAN ankyrin repeat and sterile alpha motif domain containing 1B 323 Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1) 70 all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209) OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06) CTCCAGTGACGGTTTCACCTA 0.323000 22 56 0 0 1 0 0 OR4P4 81300 broad.mit.edu 37 11 55405837 55405837 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:55405837G>A ENST00000314612.2 + 1 4 c.4G>A c.(4-6)Gaa>Aaa p.E2K NM_001004124.1 NP_001004124.1 Q8NGL7 OR4P4_HUMAN olfactory receptor, family 4, subfamily P, member 4 2 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|central_nervous_system(1)|kidney(4)|large_intestine(4)|lung(28)|ovary(1)|upper_aerodigestive_tract(1) 40 CTGGACCATGGAAAAAAGCAA 0.303000 75 164 0 0 1 0 0 C17orf47 284083 broad.mit.edu 37 17 56620548 56620548 + Missense_Mutation SNP T T A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:56620548T>A ENST00000321691.3 - 1 1181 c.1000A>T c.(1000-1002)Agg>Tgg p.R334W RP11-112H10.4_ENST00000578022.1_RNA|RP11-112H10.4_ENST00000580769.1_RNA|RP11-112H10.4_ENST00000580589.1_RNA NM_001038704.2 NP_001033793.2 Q8NEP4 CQ047_HUMAN chromosome 17 open reading frame 47 334 NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1) 24 Medulloblastoma(34;0.127)|all_neural(34;0.237) ATGGTGACCCTGCGGCCAACC 0.542000 22 83 0 0 1 0 0 BRD8 10902 broad.mit.edu 37 5 137504316 137504316 + Missense_Mutation SNP A A T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:137504316A>T ENST00000230901.5 - 9 719 c.704T>A c.(703-705)cTt>cAt p.L235H BRD8_ENST00000254900.5_Intron|BRD8_ENST00000455658.2_Intron|BRD8_ENST00000411594.2_Missense_Mutation_p.L235H|BRD8_ENST00000402931.1_Intron NM_006696.3 NP_006687.3 Q9H0E9 BRD8_HUMAN bromodomain containing 8 193 cell surface receptor linked signaling pathway|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription from RNA polymerase II promoter mitochondrion|NuA4 histone acetyltransferase complex sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(3)|urinary_tract(1) 35 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109) GCCTGGAGGAAGGGTGTCAGG 0.532000 7 58 0 0 1 0 0 ACCS 84680 broad.mit.edu 37 11 44101123 44101123 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:44101123C>T ENST00000263776.8 + 10 1310 c.876C>T c.(874-876)tcC>tcT p.S292S NM_001127219.1|NM_032592.3 NP_001120691.1|NP_115981.1 Q96QU6 1A1L1_HUMAN 1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional) 292 1-aminocyclopropane-1-carboxylate synthase activity|protein homodimerization activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups breast(4)|endometrium(3)|large_intestine(11)|lung(15)|ovary(1)|skin(1) 35 ACATGCTGTCCGTGTTTGAGA 0.572000 3 38 0 0 1 0 0 CTNND2 1501 broad.mit.edu 37 5 11346594 11346594 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:11346594C>T ENST00000304623.8 - 9 1707 c.1518G>A c.(1516-1518)ctG>ctA p.L506L CTNND2_ENST00000503622.1_Silent_p.L169L|CTNND2_ENST00000359640.2_Silent_p.L506L|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000458100.2_Silent_p.L73L|CTNND2_ENST00000511377.1_Silent_p.L415L NM_001332.2 NP_001323.1 Q9UQB3 CTND2_HUMAN catenin (cadherin-associated protein), delta 2 506 multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent adherens junction|cytoplasm|nucleus protein binding NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2) 136 GACAATACTGCAGCTGTCGGT 0.632000 58 58 0 0 1 0 0 XCL1 6375 broad.mit.edu 37 1 168549374 168549374 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:168549374C>T ENST00000367818.3 + 2 300 c.135C>T c.(133-135)atC>atT p.I45I NM_002995.2 NP_002986.1 P47992 XCL1_HUMAN chemokine (C motif) ligand 1 45 CD4-positive, alpha-beta T cell proliferation|CD8-positive, alpha-beta T cell proliferation|cell-cell signaling|cellular response to interleukin-4|cellular response to transforming growth factor beta stimulus|immunoglobulin production in mucosal tissue|lymphocyte chemotaxis|negative regulation of interferon-gamma production|negative regulation of interleukin-2 production|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of T cell cytokine production|negative regulation of T-helper 1 cell activation|negative regulation of transcription, DNA-dependent|neutrophil chemotaxis|positive regulation of activated T cell proliferation|positive regulation of B cell chemotaxis|positive regulation of granzyme A production|positive regulation of granzyme B production|positive regulation of interleukin-10 production|positive regulation of natural killer cell chemotaxis|positive regulation of neutrophil chemotaxis|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of T cell chemotaxis|positive regulation of T cell cytokine production|positive regulation of T cell mediated cytotoxicity|positive regulation of thymocyte migration|positive regulation of transforming growth factor-beta production|regulation of inflammatory response|release of sequestered calcium ion into cytosol|response to virus|T-helper 1 cell cytokine production|T-helper 2 cell cytokine production extracellular space chemokine activity|protein homodimerization activity kidney(2)|lung(7)|upper_aerodigestive_tract(1) 10 all_hematologic(923;0.208) TTAGCAGAATCAAGACCTACA 0.483000 81 117 0 0 1 0 0 SLC6A1 6529 broad.mit.edu 37 3 11078599 11078599 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:11078599G>A ENST00000287766.4 + 16 2168 c.1747G>A c.(1747-1749)Ggt>Agt p.G583S SLC6A1_ENST00000536032.1_Missense_Mutation_p.G405S NM_003042.3 NP_003033.3 P30531 SC6A1_HUMAN solute carrier family 6 (neurotransmitter transporter), member 1 583 neurotransmitter secretion integral to plasma membrane gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity breast(1)|endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(1) 26 Ovarian(110;0.0392) OV - Ovarian serous cystadenocarcinoma(96;0.00099) Cocaine(DB00907)|Tiagabine(DB00906) CCCAGAGAATGGTCCTGAGCA 0.642000 32 70 0 0 1 0 0 SLC12A8 84561 broad.mit.edu 37 3 124807163 124807163 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:124807163G>A ENST00000423114.2 - 13 2059 c.2060C>T c.(2059-2061)cCc>cTc p.P687L SLC12A8_ENST00000465475.1_Intron|SLC12A8_ENST00000430155.2_Missense_Mutation_p.P459L|SLC12A8_ENST00000393469.4_Missense_Mutation_p.P658L|SLC12A8_ENST00000314584.7_Intron|SLC12A8_ENST00000469902.1_Missense_Mutation_p.P658L A0AV02 S12A8_HUMAN solute carrier family 12, member 8 658 potassium ion transport integral to membrane symporter activity endometrium(2)|kidney(2)|lung(12) 16 CCTGCAGGAGGGGAGCAAGAG 0.527000 18 42 0 0 1 0 0 TOX3 27324 broad.mit.edu 37 16 52473243 52473243 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr16:52473243G>A ENST00000219746.9 - 7 1909 c.1625C>T c.(1624-1626)tCc>tTc p.S542F TOX3_ENST00000407228.3_Missense_Mutation_p.S537F NM_001080430.2 NP_001073899.2 O15405 TOX3_HUMAN TOX high mobility group box family member 3 542 Gln-rich. apoptosis|negative regulation of neuron apoptosis|positive regulation of anti-apoptosis|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus chromatin binding|estrogen response element binding|phosphoprotein binding|protein homodimerization activity NS(2)|endometrium(6)|kidney(1)|lung(8)|prostate(3)|stomach(3)|upper_aerodigestive_tract(1) 24 AGGGATGGGGGATGTTATCTG 0.587000 9 9 0 0 1 0 0 PCSK5 5125 broad.mit.edu 37 9 78784740 78784740 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:78784740G>A ENST00000545128.1 + 13 2278 c.1740G>A c.(1738-1740)agG>agA p.R580R PCSK5_ENST00000376767.3_Silent_p.R580R|PCSK5_ENST00000376752.4_Silent_p.R580R NM_001190482.1 NP_001177411.1 Q92824 PCSK5_HUMAN proprotein convertase subtilisin/kexin type 5 580 Homo B/P. anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release extracellular space|Golgi lumen|stored secretory granule peptide binding|serine-type endopeptidase activity NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 55 CTCAGCTAAGGAACTTTAAGA 0.423000 11 145 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179542524 179542524 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:179542524G>A ENST00000589042.1 - 146 34339 c.34115C>T c.(34114-34116)cCt>cTt p.P11372L TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.P11055L|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P10128L|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000589487.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 11055 Glu-rich.|Pro-rich. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) CTCTTCCTCAGGTAGAACTTC 0.438000 6 205 0 0 1 0 0 GALNTL5 168391 broad.mit.edu 37 7 151705006 151705006 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:151705006G>A ENST00000392800.2 + 7 1257 c.1003G>A c.(1003-1005)Gaa>Aaa p.E335K GALNTL5_ENST00000483959.1_3'UTR|GALNTL5_ENST00000431418.2_Missense_Mutation_p.E335K NM_145292.3 NP_660335.2 Q7Z4T8 GLTL5_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 5 335 Catalytic subdomain B. Golgi membrane|integral to membrane transferase activity, transferring glycosyl groups NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(11)|ovary(2)|prostate(2)|skin(3) 32 all_neural(206;0.187) all_hematologic(28;0.0749) OV - Ovarian serous cystadenocarcinoma(82;0.00427) UCEC - Uterine corpus endometrioid carcinoma (81;0.18)|BRCA - Breast invasive adenocarcinoma(188;0.166) TTGGGGAAGAGAAAATTTGGA 0.338000 46 167 0 0 1 0 0 SLAMF6 114836 broad.mit.edu 37 1 160458940 160458940 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:160458940C>T ENST00000368059.3 - 6 883 c.814G>A c.(814-816)Gag>Aag p.E272K SLAMF6_ENST00000368055.1_Missense_Mutation_p.E162K|SLAMF6_ENST00000368057.3_Missense_Mutation_p.E273K NM_001184714.1|NM_001184715.1|NM_001184716.1|NM_052931.4 NP_001171643.1|NP_001171644.1|NP_001171645.1|NP_443163.1 Q96DU3 SLAF6_HUMAN SLAM family member 6 273 integral to membrane|plasma membrane receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(4) 22 all_cancers(52;1.05e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.0923) GAAACATACTCTAGGTTCCTT 0.473000 25 114 0 0 1 0 0 IL37 27178 broad.mit.edu 37 2 113676171 113676171 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:113676171G>A ENST00000263326.3 + 5 484 c.442G>A c.(442-444)Gaa>Aaa p.E148K IL37_ENST00000311328.2_Missense_Mutation_p.E122K|IL37_ENST00000353225.3_Missense_Mutation_p.E108K|IL37_ENST00000352179.3_Missense_Mutation_p.E127K|IL37_ENST00000349806.3_Missense_Mutation_p.E87K NM_014439.3 NP_055254.2 Q9NZH6 IL37_HUMAN interleukin 37 148 immune response cytosol|extracellular space|nucleus cytokine activity|interleukin-1 receptor antagonist activity|interleukin-1 receptor binding p.E122K(1)|p.E148K(1) NS(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(7)|ovary(2)|skin(3) 19 TGCCCAAAAGGAATCAGCACG 0.532000 21 54 0 0 1 0 0 LRRC8A 56262 broad.mit.edu 37 9 131670622 131670622 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:131670622C>T ENST00000259324.5 + 3 1702 c.1179C>T c.(1177-1179)ttC>ttT p.F393F LRRC8A_ENST00000372600.4_Silent_p.F393F|LRRC8A_ENST00000372599.3_Silent_p.F393F NM_001127244.1 NP_001120716.1 Q8IWT6 LRC8A_HUMAN leucine rich repeat containing 8 family, member A 393 pre-B cell differentiation integral to membrane breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(3) 28 TCGCCGTCTTCCTGTCGGAGG 0.592000 50 91 0 0 1 0 0 HIST1H2AA 221613 broad.mit.edu 37 6 25726436 25726436 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:25726436C>T ENST00000297012.3 - 1 354 c.320G>A c.(319-321)gGa>gAa p.G107E NM_170745.3 NP_734466.1 Q96QV6 H2A1A_HUMAN histone cluster 1, H2aa 107 nucleosome assembly nucleosome|nucleus DNA binding breast(1)|endometrium(2)|large_intestine(2)|lung(8) 13 AGGCAGGACTCCGCCCTGGGC 0.498000 103 350 0 0 1 0 0 SSFA2 6744 broad.mit.edu 37 2 182766759 182766759 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:182766759C>T ENST00000431877.2 + 8 1158 c.979C>T c.(979-981)Cta>Tta p.L327L SSFA2_ENST00000428267.2_Silent_p.L174L|SSFA2_ENST00000320370.7_Silent_p.L327L|SSFA2_ENST00000409001.1_Silent_p.L327L NM_001130445.1 NP_001123917.1 P28290 SSFA2_HUMAN sperm specific antigen 2 327 cytoplasm|plasma membrane actin binding breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(18)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 38 OV - Ovarian serous cystadenocarcinoma(117;0.0856) AGGAAAGATTCTAAATGTTTC 0.318000 26 50 0 0 1 0 0 RYR2 6262 broad.mit.edu 37 1 237947516 237947516 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:237947516C>T ENST00000366574.2 + 90 12821 c.12504C>T c.(12502-12504)tcC>tcT p.S4168S RYR2_ENST00000360064.6_Silent_p.S4174S|RYR2_ENST00000542537.1_Silent_p.S4152S NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 4168 cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) TCAAGGAGTCCAAAAGACAGT 0.493000 92 110 0 0 1 0 0 UGGT1 56886 broad.mit.edu 37 2 128865628 128865628 + Nonsense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:128865628C>T ENST00000375990.3 + 4 725 c.322C>T c.(322-324)Caa>Taa p.Q108* UGGT1_ENST00000259253.6_Nonsense_Mutation_p.Q132* Q9NYU2 UGGG1_HUMAN UDP-glucose glycoprotein glucosyltransferase 1 132 'de novo' posttranslational protein folding|post-translational protein modification|protein N-linked glycosylation via asparagine endoplasmic reticulum lumen|ER-Golgi intermediate compartment UDP-glucose:glycoprotein glucosyltransferase activity|unfolded protein binding NS(1)|breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(14)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 63 AGCTACAATCCAAGCCTTCCA 0.428000 64 112 0 0 1 0 0 RAC1 5879 broad.mit.edu 37 7 6426892 6426892 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:6426892C>T ENST00000348035.4 + 2 298 c.85C>T c.(85-87)Cct>Tct p.P29S RAC1_ENST00000356142.4_Missense_Mutation_p.P29S|RAC1_ENST00000488373.1_3'UTR NM_006908.4 NP_008839.2 P63000 RAC1_HUMAN ras-related C3 botulinum toxin substrate 1 (rho family, small GTP binding protein Rac1) 29 actin filament polymerization|apoptosis|axon guidance|cell motility|cell-matrix adhesion|induction of apoptosis by extracellular signals|inflammatory response|lamellipodium assembly|localization within membrane|negative regulation of interleukin-23 production|negative regulation of receptor-mediated endocytosis|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of lamellipodium assembly|positive regulation of Rho protein signal transduction|regulation of cell migration|regulation of defense response to virus by virus|regulation of hydrogen peroxide metabolic process|regulation of respiratory burst|ruffle organization|small GTPase mediated signal transduction|T cell costimulation|viral reproduction cytosol|melanosome|plasma membrane GTP binding|GTP-dependent protein binding|GTPase activity|thioesterase binding p.P29S(1) cervix(1)|endometrium(1)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 8 Ovarian(82;0.0776) UCEC - Uterine corpus endometrioid carcinoma (126;0.104) Pravastatin(DB00175)|Simvastatin(DB00641) CAATGCATTTCCTGGAGAATA 0.353000 38 104 0 0 1 0 0 CYP20A1 57404 broad.mit.edu 37 2 204143381 204143381 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:204143381C>T ENST00000356079.4 + 7 888 c.765C>T c.(763-765)tcC>tcT p.S255S CYP20A1_ENST00000429815.2_Silent_p.S263S|CYP20A1_ENST00000461371.1_3'UTR NM_177538.2 NP_803882.1 Q6UW02 CP20A_HUMAN cytochrome P450, family 20, subfamily A, polypeptide 1 255 integral to membrane electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen cervix(1)|large_intestine(2)|lung(6)|ovary(1)|skin(1) 11 TCATTGACTCCTTAGTACAAG 0.368000 8 34 0 0 1 0 0 KRTAP3-2 83897 broad.mit.edu 37 17 39156044 39156044 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:39156044G>A ENST00000391587.1 - 1 94 c.62C>T c.(61-63)tCc>tTc p.S21F NM_031959.2 NP_114165.1 Q9BYR7 KRA32_HUMAN keratin associated protein 3-2 21 3 X 5 AA repeats of C-C-X(3). keratin filament structural molecule activity endometrium(1)|large_intestine(1)|lung(1) 3 Breast(137;0.00043) TTTGTCGGAGGAGCAGATGGT 0.587000 30 130 0 0 1 0 0 CENPE 1062 broad.mit.edu 37 4 104117332 104117332 + Nonsense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:104117332G>A ENST00000265148.3 - 3 315 c.226C>T c.(226-228)Caa>Taa p.Q76* CENPE_ENST00000380026.3_Nonsense_Mutation_p.Q76* NM_001813.2 NP_001804.2 Q02224 CENPE_HUMAN centromere protein E, 312kDa 76 Kinesin-motor. blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle ATP binding|kinetochore binding|microtubule motor activity NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3) 101 OV - Ovarian serous cystadenocarcinoma(123;2.95e-08) TTGTAGCCTTGTATGGCAGAA 0.373000 23 40 0 0 1 0 0 SLC35F3 148641 broad.mit.edu 37 1 234367232 234367232 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:234367232G>A ENST00000366618.3 + 3 498 c.353G>A c.(352-354)gGg>gAg p.G118E SLC35F3_ENST00000366617.3_Missense_Mutation_p.G49E NM_173508.2 NP_775779.1 Q8IY50 S35F3_HUMAN solute carrier family 35, member F3 49 transport integral to membrane breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|urinary_tract(1) 32 Ovarian(103;0.0454) all_cancers(173;0.145)|Prostate(94;0.0885) OV - Ovarian serous cystadenocarcinoma(106;0.00531) GAGGCCGGCGGGAGAGCGAGT 0.751000 44 95 0 0 1 0 0 COL4A4 1286 broad.mit.edu 37 2 227886809 227886809 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:227886809C>T ENST00000396625.3 - 44 4378 c.4171G>A c.(4171-4173)Gaa>Aaa p.E1391K COL4A4_ENST00000329662.7_Missense_Mutation_p.E1388K NM_000092.4 NP_000083.3 P53420 CO4A4_HUMAN collagen, type IV, alpha 4 1391 Triple-helical region. axon guidance|glomerular basement membrane development basal lamina|collagen type IV extracellular matrix structural constituent|protein binding breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 98 Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242) Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181) ATGGCTCCTTCTGGTCCTCTC 0.542000 118 207 0 0 1 0 0 CDH22 64405 broad.mit.edu 37 20 44839092 44839092 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr20:44839092G>A ENST00000372262.3 - 6 1540 c.1140C>T c.(1138-1140)atC>atT p.I380I CDH22_ENST00000537909.1_Silent_p.I380I|CDH22_ENST00000474438.1_5'UTR NM_021248.1 NP_067071.1 Q9UJ99 CAD22_HUMAN cadherin 22, type 2 380 Cadherin 3. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3) 44 Myeloproliferative disorder(115;0.0122) CCACGCGCACGATCGCCTGGT 0.706000 13 25 0 0 1 0 0 IL1F10 84639 broad.mit.edu 37 2 113831967 113831967 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:113831967C>T ENST00000393197.2 + 2 515 c.94C>T c.(94-96)Cct>Tct p.P32S IL1F10_ENST00000341010.2_Missense_Mutation_p.P32S|IL1F10_ENST00000337569.3_Intron NM_032556.5 NP_115945.4 Q8WWZ1 IL1FA_HUMAN interleukin 1 family, member 10 (theta) 32 extracellular space cytokine activity|interleukin-1 receptor antagonist activity endometrium(1)|lung(6)|ovary(1) 8 GGTGGGAGATCCTGTTGCAGA 0.532000 33 60 0 0 1 0 0 SRL 6345 broad.mit.edu 37 16 4242369 4242369 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr16:4242369C>T ENST00000399609.3 - 6 1219 c.1207G>A c.(1207-1209)Gac>Aac p.D403N SRL_ENST00000537996.1_Missense_Mutation_p.D361N NM_001098814.1 NP_001092284.1 Q86TD4 SRCA_HUMAN sarcalumenin 862 Acidic domain, probably binds calcium (By similarity). sarcoplasmic reticulum lumen GTP binding|GTPase activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(3) 21 CCGAAGAAGTCCTTATAGGCC 0.488000 8 110 0 0 1 0 0 RIMBP3B 440804 broad.mit.edu 37 22 21742780 21742780 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr22:21742780G>A ENST00000434111.1 + 1 5118 c.4633G>A c.(4633-4635)Gac>Aac p.D1545N NM_001128635.1 NP_001122107.1 RIMS binding protein 3B CCACCTCGAGGACTTTCAGGG 0.617000 9 62 0 0 1 0 0 PREX2 80243 broad.mit.edu 37 8 68968118 68968118 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:68968118G>A ENST00000288368.4 + 10 1424 c.1147G>A c.(1147-1149)Gag>Aag p.E383K PREX2_ENST00000529398.1_3'UTR NM_024870.2|NM_025170.4 NP_079146.2|NP_079446.3 Q70Z35 PREX2_HUMAN phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 383 G-protein coupled receptor protein signaling pathway|intracellular signal transduction intracellular protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2) 178 TGAACAGGGTGAGAAACTTTA 0.373000 28 89 0 0 1 0 0 PRKCG 5582 broad.mit.edu 37 19 54395856 54395856 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:54395856C>T ENST00000263431.3 + 7 1062 c.780C>T c.(778-780)tcC>tcT p.S260S PRKCG_ENST00000542049.1_Silent_p.S147S|PRKCG_ENST00000540413.1_Silent_p.S260S|PRKCG_ENST00000536044.1_Silent_p.S260S NM_002739.3 NP_002730.1 P05129 KPCG_HUMAN protein kinase C, gamma 260 C2. activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission cytosol ATP binding|protein kinase C activity|zinc ion binding large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1) 10 all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218) GBM - Glioblastoma multiforme(134;0.0521) GGGCCATGTCCTTTGGCGTCT 0.647000 14 39 0 0 1 0 0 NINL 22981 broad.mit.edu 37 20 25477345 25477345 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr20:25477345C>T ENST00000278886.6 - 10 1337 c.1264G>A c.(1264-1266)Gac>Aac p.D422N NINL_ENST00000422516.1_Missense_Mutation_p.D422N NM_025176.4 NP_079452.3 Q9Y2I6 NINL_HUMAN ninein-like 422 G2/M transition of mitotic cell cycle cytosol|microtubule|microtubule organizing center calcium ion binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 57 TGGCAGTCGTCCATCTCTTTC 0.602000 8 109 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9058844 9058844 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:9058844G>A ENST00000397910.4 - 3 28805 c.28602C>T c.(28600-28602)tcC>tcT p.S9534S NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 9536 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 CTGGGGAAGAGGAATAGAGTT 0.488000 29 83 0 0 1 0 0 SNHG14 104472715 broad.mit.edu 37 15 25346722 25346722 + RNA SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr15:25346722G>A ENST00000546682.1 + 0 1475 SNHG14_ENST00000549804.2_RNA|SNHG14_ENST00000553108.1_RNA|SNORD116-27_ENST00000516087.1_RNA NR_003361.1 AAATGTGCCTGGATCGATGAT 0.413000 25 47 0 0 1 0 0 SLCO4C1 353189 broad.mit.edu 37 5 101574980 101574980 + Missense_Mutation SNP C C G TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:101574980C>G ENST00000310954.6 - 12 2275 c.1989G>C c.(1987-1989)aaG>aaC p.K663N NM_180991.4 NP_851322.3 Q6ZQN7 SO4C1_HUMAN solute carrier organic anion transporter family, member 4C1 663 cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis basolateral plasma membrane|integral to membrane sodium-independent organic anion transmembrane transporter activity breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5) 50 all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486) Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986) TATGGGCCATCTTGATGTTAT 0.318000 6 76 0 0 1 0 0 DCAF11 80344 broad.mit.edu 37 14 24586486 24586486 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr14:24586486C>T ENST00000446197.3 + 4 1022 c.295C>T c.(295-297)Cct>Tct p.P99S DCAF11_ENST00000396936.1_Silent_p.P20P|DCAF11_ENST00000559115.1_Missense_Mutation_p.P99S|DCAF11_ENST00000396941.4_Missense_Mutation_p.P73S|DCAF11_ENST00000560171.1_Intron NM_025230.4 NP_079506.3 Q8TEB1 DCA11_HUMAN DDB1 and CUL4 associated factor 11 99 CUL4 RING ubiquitin ligase complex protein binding GGATGCTACCCCTGACACCCG 0.577000 22 43 0 0 1 0 0 MNX1 3110 broad.mit.edu 37 7 156798336 156798336 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:156798336C>T ENST00000252971.6 - 3 1384 c.1084G>A c.(1084-1086)Gag>Aag p.E362K MNX1_ENST00000469500.1_Intron|MNX1_ENST00000543409.1_Missense_Mutation_p.E150K NM_005515.3 NP_005506.3 P50219 MNX1_HUMAN motor neuron and pancreas homeobox 1 362 humoral immune response|regulation of transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(1)|large_intestine(1)|lung(4)|skin(1) 7 Ovarian(565;0.218) all_hematologic(28;0.0592) OV - Ovarian serous cystadenocarcinoma(82;0.00301) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) TCGTCGTCCTCGTCCTCGTCC 0.731000 17 60 0 0 1 0 0 PSG11 5680 broad.mit.edu 37 19 43523096 43523096 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:43523096G>A ENST00000401740.1 - 3 638 c.535C>T c.(535-537)Ctg>Ttg p.L179L PSG11_ENST00000320078.7_Silent_p.L179L|PSG11_ENST00000595312.1_5'UTR|PSG11_ENST00000403486.1_Silent_p.L57L|PSG11_ENST00000306322.7_Silent_p.L57L Q9UQ72 PSG11_HUMAN pregnancy specific beta-1-glycoprotein 11 179 Ig-like C2-type 1. female pregnancy extracellular region breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1) 26 Prostate(69;0.00682) ATCCACCACAGGTAGCTTGCG 0.512000 183 400 0 0 1 0 0 SPATA31D3 389762 broad.mit.edu 37 9 84564786 84564786 + RNA SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:84564786G>A ENST00000585776.1 - 0 942 SPATA31D3_ENST00000334208.4_RNA TGCCCCACAGGAAGCCTGTGC 0.502000 7 17 0 0 1 0 0 ZNF442 79973 broad.mit.edu 37 19 12460977 12460977 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:12460977G>A ENST00000242804.4 - 6 2004 c.1422C>T c.(1420-1422)tcC>tcT p.S474S ZNF442_ENST00000438182.1_Silent_p.S405S NM_030824.2 NP_110451.1 Q9H7R0 ZN442_HUMAN zinc finger protein 442 474 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 31 GATTTTGAAAGGAATAGAAAT 0.378000 40 106 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9063184 9063184 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:9063184C>T ENST00000397910.4 - 3 24465 c.24262G>A c.(24262-24264)Gtt>Att p.V8088I NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 8090 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 GAGGTAATAACCATTGGAGAT 0.478000 5 116 0 0 1 0 0 VPS13A 23230 broad.mit.edu 37 9 79917895 79917895 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:79917895G>A ENST00000360280.3 + 34 4137 c.3877G>A c.(3877-3879)Gtt>Att p.V1293I VPS13A_ENST00000357409.5_Missense_Mutation_p.V1293I|VPS13A_ENST00000376636.3_Missense_Mutation_p.V1254I|VPS13A_ENST00000423463.2_3'UTR|VPS13A_ENST00000376634.4_Missense_Mutation_p.V1293I NM_033305.2 NP_150648.2 Q96RL7 VP13A_HUMAN vacuolar protein sorting 13 homolog A (S. cerevisiae) 1293 Golgi to endosome transport|protein transport intracellular protein binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1) 104 AAATCTTGAGGTTGTGGTTGA 0.353000 6 154 0 0 1 0 0 TMC3 342125 broad.mit.edu 37 15 81638765 81638765 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr15:81638765C>T ENST00000558726.1 - 12 1351 c.1216G>A c.(1216-1218)Gga>Aga p.G406R RP11-761I4.3_ENST00000560851.1_RNA|RP11-761I4.3_ENST00000559781.1_RNA|TMC3_ENST00000359440.5_Missense_Mutation_p.G405R Q7Z5M5 TMC3_HUMAN transmembrane channel-like 3 405 integral to membrane autonomic_ganglia(2)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 34 TAGAGATTTCCCAAATACAGC 0.512000 11 18 0 0 1 0 0 ARHGAP6 395 broad.mit.edu 37 X 11682608 11682608 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chrX:11682608G>A ENST00000337414.4 - 1 1213 c.341C>T c.(340-342)cCa>cTa p.P114L ARHGAP6_ENST00000380718.1_Missense_Mutation_p.P114L|ARHGAP6_ENST00000380732.3_Missense_Mutation_p.P114L NM_013427.2 NP_038286.2 O43182 RHG06_HUMAN Rho GTPase activating protein 6 114 actin filament polymerization|activation of phospholipase C activity|negative regulation of focal adhesion assembly|negative regulation of stress fiber assembly|Rho protein signal transduction actin filament|cytosol phospholipase activator activity|phospholipase binding|Rho GTPase activator activity|SH3 domain binding|SH3/SH2 adaptor activity cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 38 GCTGCCGGATGGTGACTTCTC 0.662000 4 31 0 0 1 0 0 MRVI1 10335 broad.mit.edu 37 11 10622534 10622534 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:10622534C>T ENST00000547195.1 - 14 2175 c.1675G>A c.(1675-1677)Gac>Aac p.D559N LYVE1_ENST00000531706.1_Intron|MRVI1_ENST00000527509.2_Missense_Mutation_p.D559N|MRVI1_ENST00000421747.1_Missense_Mutation_p.D641N|MRVI1_ENST00000436272.1_Missense_Mutation_p.D623N|MRVI1_ENST00000552103.1_Missense_Mutation_p.D559N|MRVI1_ENST00000423302.2_Missense_Mutation_p.D650N|MRVI1_ENST00000558540.1_Missense_Mutation_p.D335N|MRVI1_ENST00000545852.1_Missense_Mutation_p.D335N|MRVI1_ENST00000534266.2_Missense_Mutation_p.D335N|MRVI1_ENST00000531107.1_Missense_Mutation_p.D642N|MRVI1_ENST00000424001.1_Missense_Mutation_p.D335N|MRVI1_ENST00000541483.1_Missense_Mutation_p.D444N NM_001100163.2|NM_001206881.1 NP_001093633.1|NP_001193810.1 Q9Y6F6 MRVI1_HUMAN murine retrovirus integration site 1 homolog 623 platelet activation endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(2) 22 all cancers(16;2.68e-07)|Epithelial(150;3.04e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0723) TCCGCATGGTCCTTCTCATAC 0.522000 123 109 0 0 1 0 0 CRB1 23418 broad.mit.edu 37 1 197297986 197297986 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:197297986G>A ENST00000367400.3 + 2 640 c.505G>A c.(505-507)Ggt>Agt p.G169S CRB1_ENST00000367399.2_Missense_Mutation_p.G169S|CRB1_ENST00000538660.1_Missense_Mutation_p.G169S|CRB1_ENST00000535699.1_Missense_Mutation_p.G100S NM_201253.2 NP_957705.1 P82279 CRUM1_HUMAN crumbs homolog 1 (Drosophila) 169 EGF-like 4; calcium-binding (Potential). cell-cell signaling|establishment or maintenance of cell polarity apical plasma membrane|extracellular region|integral to membrane calcium ion binding|protein binding NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2) 132 TGGAATTGATGGTTACTCCTG 0.517000 28 33 0 0 1 0 0 FAM47A 158724 broad.mit.edu 37 X 34148786 34148786 + Missense_Mutation SNP G G A rs45574734 TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chrX:34148786G>A ENST00000346193.3 - 1 1661 c.1610C>T c.(1609-1611)aCt>aTt p.T537I NM_203408.3 NP_981953.2 Q5JRC9 FA47A_HUMAN family with sequence similarity 47, member A 537 NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2) 97 CACTCGACGAGTCTTGGGAGG 0.647000 55 21 0 0 1 0 0 SPATA31E1 286234 broad.mit.edu 37 9 90502007 90502007 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:90502007C>T ENST00000325643.5 + 4 2671 c.2605C>T c.(2605-2607)Ccc>Tcc p.P869S NM_178828.4 NP_849150.3 SPATA31 subfamily E, member 1 TCAGGCCCCGCCCTTCCCACA 0.557000 8 62 0 0 1 0 0 LAG3 3902 broad.mit.edu 37 12 6882375 6882375 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:6882375G>A ENST00000203629.2 + 2 409 c.76G>A c.(76-78)Ggg>Agg p.G26R LAG3_ENST00000441671.2_Missense_Mutation_p.G26R NM_002286.5 NP_002277.4 P18627 LAG3_HUMAN lymphocyte-activation gene 3 26 integral to membrane antigen binding|MHC class II protein binding breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 17 TCTCCAGCCAGGGGCTGAGGT 0.667000 28 100 0 0 1 0 0 ZNF862 643641 broad.mit.edu 37 7 149558271 149558271 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:149558271C>T ENST00000223210.4 + 7 2267 c.2022C>T c.(2020-2022)atC>atT p.I674I NM_001099220.1 NP_001092690.1 O60290 ZN862_HUMAN zinc finger protein 862 674 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|nucleic acid binding|protein dimerization activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(1) 34 TCGAGACCATCGTTTCTGCCC 0.577000 10 48 0 0 1 0 0 PCDHGB6 56100 broad.mit.edu 37 5 140789951 140789951 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:140789951C>T ENST00000520790.1 + 1 2182 c.2182C>T c.(2182-2184)Cat>Tat p.H728Y PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron NM_018926.2|NM_032100.1 NP_061749.1|NP_115271.1 breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2) 48 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGACTGCTTCCATCCTGGTCT 0.542000 45 112 0 0 1 0 0 PDE4DIP 9659 broad.mit.edu 37 1 144882499 144882499 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:144882499G>A ENST00000369359.4 - 27 3969 c.3931C>T c.(3931-3933)Ccc>Tcc p.P1311S PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000313382.9_Intron|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.P1174S|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.P1311S|PDE4DIP_ENST00000369354.3_Missense_Mutation_p.P1174S Q5VU43 MYOME_HUMAN phosphodiesterase 4D interacting protein 1174 cellular protein complex assembly centrosome|Golgi apparatus|myofibril|nucleus enzyme binding NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 176 Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126) TGGGGTCTGGGGAAAGGCCTC 0.517000 T PDGFRB MPD 24 181 0 0 1 0 0 TMEM8C 389827 broad.mit.edu 37 9 136380676 136380676 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:136380676G>A ENST00000339996.3 - 4 554 c.453C>T c.(451-453)acC>acT p.T151T TMEM8C_ENST00000413714.1_5'UTR NM_001080483.2 NP_001073952.1 A6NI61 TMM8C_HUMAN transmembrane protein 8C 151 integral to membrane NS(1)|autonomic_ganglia(1)|large_intestine(2)|lung(4) 8 CTATCTGCTGGGTGTAGACGC 0.592000 7 132 0 0 1 0 0 CCDC11 220136 broad.mit.edu 37 18 47769387 47769387 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr18:47769387C>T ENST00000398545.4 - 6 1213 c.1096G>A c.(1096-1098)Gaa>Aaa p.E366K NM_145020.3 NP_659457.2 Q96M91 CCD11_HUMAN coiled-coil domain containing 11 366 endometrium(1)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|pancreas(1)|skin(1) 20 STAD - Stomach adenocarcinoma(97;2.66e-05)|Colorectal(21;7.57e-05)|Lung(128;0.00932)|READ - Rectum adenocarcinoma(32;0.164) GCCTTGTCTTCCTCTAATATT 0.408000 89 176 0 0 1 0 0 GPR128 84873 broad.mit.edu 37 3 100413784 100413784 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:100413784C>T ENST00000273352.3 + 16 2601 c.2333C>T c.(2332-2334)aCc>aTc p.T778I GPR128_ENST00000481506.1_3'UTR|GPR128_ENST00000475887.1_Missense_Mutation_p.T483I NM_032787.2 NP_116176.2 Q96K78 GP128_HUMAN G protein-coupled receptor 128 778 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 56 CTACTGGAAACCTCTCCGAGT 0.443000 6 119 0 0 1 0 0 FAM135A 57579 broad.mit.edu 37 6 71266490 71266490 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:71266490C>T ENST00000418814.2 + 21 4880 c.4266C>T c.(4264-4266)tcC>tcT p.S1422S FAM135A_ENST00000457062.2_Silent_p.S1209S|FAM135A_ENST00000370479.3_Silent_p.S1209S|FAM135A_ENST00000361499.3_Silent_p.S1226S|FAM135A_ENST00000505868.1_Silent_p.S1422S|FAM135A_ENST00000505769.1_Silent_p.S1002S NM_001105531.2|NM_001162529.1 NP_001099001.1|NP_001156001.1 Q9P2D6 F135A_HUMAN family with sequence similarity 135, member A 1422 breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 38 TAGTGGGATCCCTACAGGATC 0.318000 13 42 0 0 1 0 0 TFEB 7942 broad.mit.edu 37 6 41652410 41652410 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:41652410G>A ENST00000230323.4 - 10 1659 c.1358C>T c.(1357-1359)aCc>aTc p.T453I TFEB_ENST00000373033.1_Missense_Mutation_p.T453I|TFEB_ENST00000403298.4_Missense_Mutation_p.T453I|TFEB_ENST00000420312.1_Missense_Mutation_p.T368I|TFEB_ENST00000358871.2_Missense_Mutation_p.T467I NM_001271945.1|NM_007162.2 NP_001258874.1|NP_009093.1 P19484 TFEB_HUMAN transcription factor EB 453 EPLAPGHGSPFPSLSKKDLDLMLLDDSLLPLASDPLLSTMS PEASKASSRRSSFSMEEGDVL -> DRN (in Ref. 1). embryonic placenta development|humoral immune response|positive regulation of transcription from RNA polymerase II promoter cytoplasm sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1) 11 Ovarian(28;0.0355)|Colorectal(47;0.121) Epithelial(12;7.61e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00507) GGGGGACATGGTGGACAGAAG 0.642000 T ALPHA renal (childhood epithelioid) 42 157 0 0 1 0 0 ZNF212 7988 broad.mit.edu 37 7 148950747 148950747 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:148950747C>T ENST00000335870.2 + 5 857 c.729C>T c.(727-729)ttC>ttT p.F243F NM_012256.3 NP_036388.2 Q9UDV6 ZN212_HUMAN zinc finger protein 212 243 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|identical protein binding|zinc ion binding endometrium(2)|kidney(1)|large_intestine(4)|ovary(1)|prostate(1) 9 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00171) AGCAGGCTTTCCTGAGCCCAG 0.547000 57 206 0 0 1 0 0 HDC 3067 broad.mit.edu 37 15 50550694 50550694 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr15:50550694G>A ENST00000267845.3 - 3 627 c.225C>T c.(223-225)ccC>ccT p.P75P HDC_ENST00000543581.1_Silent_p.P75P NM_002112.3 NP_002103.2 P19113 DCHS_HUMAN histidine decarboxylase 75 catecholamine biosynthetic process|histidine metabolic process histidine decarboxylase activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 50 all_lung(180;0.0138) all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05) L-Histidine(DB00117)|Pyridoxal Phosphate(DB00114) CGTGCATATGGGGGCTCTGCC 0.567000 8 27 0 0 1 0 0 FOXP4 116113 broad.mit.edu 37 6 41552593 41552593 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:41552593C>T ENST00000373060.1 + 4 845 c.387C>T c.(385-387)gcC>gcT p.A129A FOXP4_ENST00000409208.1_Silent_p.A129A|FOXP4_ENST00000373057.3_Silent_p.A129A|FOXP4_ENST00000373063.3_Silent_p.A129A|FOXP4_ENST00000307972.4_Silent_p.A129A NM_001012426.1|NM_001012427.1 NP_001012426.1|NP_001012427.1 Q8IVH2 FOXP4_HUMAN forkhead box P4 129 Gln-rich. embryonic foregut morphogenesis|heart development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development cytoplasm|transcription factor complex chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1) 16 Ovarian(28;0.0327)|Colorectal(47;0.196) AGCTGCAGGCCTTGCTCCAGC 0.662000 8 27 0 0 1 0 0 KIR3DX1 90011 broad.mit.edu 37 19 55047094 55047094 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:55047094G>A ENST00000335056.3 + 4 677 c.639G>A c.(637-639)ctG>ctA p.L213L KIR3DX1_ENST00000482404.1_3'UTR endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|pancreas(1)|skin(1) 24 GBM - Glioblastoma multiforme(193;0.099) GTGACCCCCTGGACATTGTGA 0.542000 7 168 0 0 1 0 0 RBM12B 389677 broad.mit.edu 37 8 94745875 94745875 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:94745875C>T ENST00000399300.2 - 3 2977 c.2764G>A c.(2764-2766)Ggt>Agt p.G922S RBM12B_ENST00000520961.1_Intron|RP11-10N23.4_ENST00000517998.1_RNA|RBM12B_ENST00000517700.1_Missense_Mutation_p.G802S NM_203390.2 NP_976324.2 Q8IXT5 RB12B_HUMAN RNA binding motif protein 12B 922 nucleotide binding|RNA binding breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2) 30 Breast(36;4.14e-07) BRCA - Breast invasive adenocarcinoma(8;0.0168) GTTACTCTACCTGAACCACAA 0.358000 87 143 0 0 1 0 0 NUP214 8021 broad.mit.edu 37 9 134072872 134072872 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:134072872C>T ENST00000359428.5 + 29 4135 c.3991C>T c.(3991-3993)Ctg>Ttg p.L1331L NUP214_ENST00000483497.2_Silent_p.L157L|NUP214_ENST00000465486.2_3'UTR|NUP214_ENST00000451030.1_Silent_p.L1332L|NUP214_ENST00000411637.2_Silent_p.L1321L P35658 NU214_HUMAN nucleoporin 214kDa 1331 11 X 5 AA approximate repeats.|Pro/Ser/Thr-rich. carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear pore|nucleoplasm protein binding NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 86 all_hematologic(7;0.0028) Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256) TGGAGAGACTCTGGGAAGTTT 0.498000 T """DEK, SET, ABL1""" """AML, T-ALL""" 64 135 0 0 1 0 0 WDR24 84219 broad.mit.edu 37 16 739257 739257 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr16:739257G>A ENST00000293883.4 - 1 1143 c.384C>T c.(382-384)ttC>ttT p.F128F WDR24_ENST00000248142.6_Silent_p.F190F NM_032259.2 NP_115635.1 Q96S15 WDR24_HUMAN WD repeat domain 24 190 breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|urinary_tract(3) 19 Hepatocellular(780;0.0218) CGGTGGGGTGGAAGCAGACTT 0.592000 36 69 0 0 1 0 0 GPR107 57720 broad.mit.edu 37 9 132889814 132889814 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:132889814C>T ENST00000372406.1 + 18 2060 c.1553C>T c.(1552-1554)gCt>gTt p.A518V GPR107_ENST00000347136.6_Missense_Mutation_p.A470V|GPR107_ENST00000372410.3_Missense_Mutation_p.A489V NM_001136557.1 NP_001130029.1 Q5VW38 GP107_HUMAN G protein-coupled receptor 107 518 integral to membrane endometrium(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 11 Ovarian(14;0.000531) CTCAAACTCGCTGTTCCATTC 0.413000 17 46 0 0 1 0 0 OR13C5 138799 broad.mit.edu 37 9 107360951 107360951 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:107360951C>T ENST00000374779.2 - 1 837 c.744G>A c.(742-744)gtG>gtA p.V248V NM_001004482.1 NP_001004482.1 Q8NGS8 O13C5_HUMAN olfactory receptor, family 13, subfamily C, member 5 248 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(4)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(4) 28 AGAATGTTATCACCACAGTCA 0.428000 28 83 0 0 1 0 0 KCNH3 23416 broad.mit.edu 37 12 49948156 49948156 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:49948156G>A ENST00000257981.6 + 11 2215 c.1955G>A c.(1954-1956)cGg>cAg p.R652Q NM_012284.1 NP_036416.1 Q9ULD8 KCNH3_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 3 652 regulation of transcription, DNA-dependent integral to membrane two-component sensor activity|voltage-gated potassium channel activity p.R652L(1) NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 36 CTGCCCCGGCGGGAGCAGGTG 0.637000 18 202 0 0 1 0 0 NKX2-2 4821 broad.mit.edu 37 20 21493000 21493000 + Missense_Mutation SNP T T G TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr20:21493000T>G ENST00000377142.4 - 2 739 c.383A>C c.(382-384)aAg>aCg p.K128T NM_002509.3 NP_002500.1 O95096 NKX22_HUMAN NK2 homeobox 2 128 brain development|positive regulation of sequence-specific DNA binding transcription factor activity nucleus chromatin binding|core promoter proximal region DNA binding|transcription coactivator activity endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 21 CCGCTTTCGCTTCTTGCCGGC 0.687000 4 20 0 0 1 0 0 TRIM74 378108 broad.mit.edu 37 7 72430573 72430573 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:72430573C>T ENST00000285805.3 - 4 904 c.705G>A c.(703-705)gaG>gaA p.E235E TRIM74_ENST00000395244.1_Silent_p.E235E NM_198853.1 NP_942150.1 Q86UV6 TRI74_HUMAN tripartite motif containing 74 235 intracellular zinc ion binding prostate(1) 1 CATGGTGGTCCTCATTTCCGA 0.647000 7 271 0 0 1 0 0 AJAP1 55966 broad.mit.edu 37 1 4832439 4832439 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:4832439G>A ENST00000378191.4 + 4 1398 c.1017G>A c.(1015-1017)cgG>cgA p.R339R AJAP1_ENST00000378190.3_Silent_p.R339R NM_018836.3 NP_061324.1 Q9UKB5 AJAP1_HUMAN adherens junctions associated protein 1 339 Targeting signals. cell adhesion adherens junction|apical plasma membrane|basolateral plasma membrane|integral to membrane endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1) 24 all_cancers(77;0.071)|Ovarian(185;0.0721) all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215) Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689) CCTCGGCCCGGGTGCCCAGCA 0.622000 8 71 0 0 1 0 0 SUPT20H 55578 broad.mit.edu 37 13 37591446 37591446 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr13:37591446G>A ENST00000360252.4 - 23 2178 c.1931C>T c.(1930-1932)tCc>tTc p.S644F SUPT20H_ENST00000356185.3_Missense_Mutation_p.S644F|SUPT20H_ENST00000350612.6_Missense_Mutation_p.S643F|SUPT20H_ENST00000464744.1_Missense_Mutation_p.S644F|SUPT20H_ENST00000475892.1_Missense_Mutation_p.S722F NM_001278481.1|NM_001278482.1|NM_017569.3 NP_001265410.1|NP_001265411.1|NP_060039.1 suppressor of Ty 20 homolog (S. cerevisiae) TGTAAACTGGGAGAGCTGCTG 0.413000 54 79 0 0 1 0 0 RPS6KA6 27330 broad.mit.edu 37 X 83360845 83360845 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chrX:83360845C>T ENST00000262752.2 - 16 1412 c.1405G>A c.(1405-1407)Gaa>Aaa p.E469K RPS6KA6_ENST00000495332.1_5'UTR|RPS6KA6_ENST00000543399.1_Missense_Mutation_p.E469K NM_014496.4 NP_055311.1 Q9UK32 KS6A6_HUMAN ribosomal protein S6 kinase, 90kDa, polypeptide 6 469 Protein kinase 2. axon guidance|central nervous system development|intracellular protein kinase cascade|synaptic transmission cytosol|nucleoplasm ATP binding|magnesium ion binding|protein serine/threonine kinase activity NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(26)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 46 ATCAATATTTCAATCTCTTCT 0.313000 44 16 0 0 1 0 0 OR5B17 219965 broad.mit.edu 37 11 58126369 58126369 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:58126369G>A ENST00000357377.3 - 1 173 c.174C>T c.(172-174)taC>taT p.Y58Y NM_001005489.1 NP_001005489.1 Q8NGF7 OR5BH_HUMAN olfactory receptor, family 5, subfamily B, member 17 58 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 30 Esophageal squamous(5;0.0027) Breast(21;0.0778) TGAGAAAAAAGTACATGGGAG 0.443000 28 73 0 0 1 0 0 KRT83 3889 broad.mit.edu 37 12 52714879 52714879 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:52714879G>A ENST00000293670.3 - 1 303 c.241C>T c.(241-243)Cca>Tca p.P81S NM_002282.3 NP_002273.3 P78385 KRT83_HUMAN keratin 83 81 Head. epidermis development keratin filament structural molecule activity NS(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(4)|stomach(7)|upper_aerodigestive_tract(1) 32 Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088) BRCA - Breast invasive adenocarcinoma(357;0.189) GTGATGCATGGGGGGCTGGGT 0.692000 45 92 0 0 1 0 0 CRB1 23418 broad.mit.edu 37 1 197390425 197390425 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:197390425G>A ENST00000367400.3 + 6 1602 c.1467G>A c.(1465-1467)gaG>gaA p.E489E CRB1_ENST00000544212.1_5'UTR|CRB1_ENST00000543483.1_Silent_p.E188E|CRB1_ENST00000367397.1_5'UTR|CRB1_ENST00000476483.1_3'UTR|CRB1_ENST00000367399.2_Silent_p.E377E|CRB1_ENST00000538660.1_Silent_p.E489E|CRB1_ENST00000535699.1_Silent_p.E420E NM_201253.2 NP_957705.1 P82279 CRUM1_HUMAN crumbs homolog 1 (Drosophila) 489 Laminin G-like 1. cell-cell signaling|establishment or maintenance of cell polarity apical plasma membrane|extracellular region|integral to membrane calcium ion binding|protein binding NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2) 132 TTTCATTTGAGGGCGATGGCT 0.522000 46 65 0 0 1 0 0 LAMP5 24141 broad.mit.edu 37 20 9495542 9495542 + Nonsense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr20:9495542C>T ENST00000246070.2 + 1 535 c.43C>T c.(43-45)Cga>Tga p.R15* LAMP5_ENST00000427562.2_Nonsense_Mutation_p.R15*|RP5-1119D9.4_ENST00000443469.1_RNA NM_012261.3 NP_036393.1 Q9UJQ1 CT103_HUMAN lysosomal-associated membrane protein family, member 5 15 integral to membrane CGACAGACTTCGAGTTCTCCT 0.567000 14 42 0 0 1 0 0 SLC22A9 114571 broad.mit.edu 37 11 63176300 63176300 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:63176300C>T ENST00000279178.3 + 9 1799 c.1550C>T c.(1549-1551)cCt>cTt p.P517L SLC22A9_ENST00000310969.4_3'UTR NM_080866.2 NP_543142.2 Q8IVM8 S22A9_HUMAN solute carrier family 22 (organic anion transporter), member 9 517 transmembrane transport integral to membrane breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1) 18 CTCCTCCTTCCTGAAACCAGG 0.502000 39 93 0 0 1 0 0 EPHA6 285220 broad.mit.edu 37 3 97185327 97185327 + Splice_Site SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:97185327G>A ENST00000514100.1 + 4 312 c.e4+1 EPHA6_ENST00000389672.5_Intron|EPHA6_ENST00000442602.2_Intron|EPHA6_ENST00000502694.1_Splice_Site NM_001278300.1 NP_001265229.1 Q9UF33 EPHA6_HUMAN EPH receptor A6 integral to plasma membrane ATP binding|ephrin receptor activity NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2) 101 attgcctcaggtaactgaaaa 0.408000 20 49 0 0 1 0 0 TET3 200424 broad.mit.edu 37 2 74274421 74274421 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:74274421C>T ENST00000409262.3 + 1 972 c.972C>T c.(970-972)ccC>ccT p.P324P NM_144993.1 NP_659430.1 O43151 TET3_HUMAN tet methylcytosine dioxygenase 3 324 metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 GCCCCGATCCCATGGCTGAAC 0.617000 7 79 0 0 1 0 0 LYZL1 84569 broad.mit.edu 37 10 29578107 29578107 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:29578107G>A ENST00000375500.3 + 1 118 c.61G>A c.(61-63)Gac>Aac p.D21N NM_032517.4 NP_115906.3 Q6UWQ5 LYZL1_HUMAN lysozyme-like 1 0 cell wall macromolecule catabolic process extracellular region lysozyme activity central_nervous_system(1)|cervix(2)|large_intestine(2)|lung(5)|skin(1) 11 Breast(68;0.203) TTCTTCCGCAGACTCAACTGA 0.517000 5 30 0 0 1 0 0 DLAT 1737 broad.mit.edu 37 11 111933198 111933198 + Missense_Mutation SNP G G C TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:111933198G>C ENST00000280346.6 + 14 2542 c.1883G>C c.(1882-1884)gGa>gCa p.G628A DLAT_ENST00000537636.1_Missense_Mutation_p.G399A|DLAT_ENST00000393051.1_Missense_Mutation_p.G523A NM_001931.4 NP_001922.2 P10515 ODP2_HUMAN dihydrolipoamide S-acetyltransferase 628 Catalytic (By similarity). glycolysis|regulation of acetyl-CoA biosynthetic process from pyruvate mitochondrial pyruvate dehydrogenase complex dihydrolipoyllysine-residue acetyltransferase activity|protein binding breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(1)|skin(1) 22 all_cancers(61;4.53e-11)|all_epithelial(67;2.76e-06)|Melanoma(852;9.42e-06)|all_hematologic(158;0.000885)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0512)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663) Epithelial(105;4.87e-07)|BRCA - Breast invasive adenocarcinoma(274;6.83e-07)|all cancers(92;9.63e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0557) NADH(DB00157) GGAGCAGTTGGAGCCCAGTGG 0.408000 7 112 0 0 1 0 0 CHCHD6 84303 broad.mit.edu 37 3 126451940 126451940 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:126451940G>A ENST00000508789.1 + 4 358 c.286G>A c.(286-288)Gct>Act p.A96T CHCHD6_ENST00000290913.3_Missense_Mutation_p.A96T Q9BRQ6 CHCH6_HUMAN coiled-coil-helix-coiled-coil-helix domain containing 6 96 endometrium(2)|large_intestine(3)|lung(3) 8 GGAGCATGCTGCTATCCAGGA 0.552000 26 38 0 0 1 0 0 PRDM16 63976 broad.mit.edu 37 1 3328829 3328829 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:3328829G>A ENST00000378398.3 + 10 2153 c.2071G>A c.(2071-2073)Ggg>Agg p.G691R PRDM16_ENST00000514189.1_Missense_Mutation_p.G691R|PRDM16_ENST00000378391.2_Missense_Mutation_p.G690R|PRDM16_ENST00000511072.1_Missense_Mutation_p.G691R|PRDM16_ENST00000512462.1_3'UTR|PRDM16_ENST00000442529.2_Missense_Mutation_p.G690R|PRDM16_ENST00000441472.2_Missense_Mutation_p.G690R|PRDM16_ENST00000270722.5_Missense_Mutation_p.G690R Q9HAZ2 PRD16_HUMAN PR domain containing 16 690 Interaction with CTBP1 and CTBP2 (By similarity). brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent transcriptional repressor complex protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3) 59 all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111) all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134) Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137) GGGCGCCGCCGGGGACTCCAT 0.642000 T EVI1 """MDS, AML""" 44 107 0 0 1 0 0 REV3L 5980 broad.mit.edu 37 6 111709259 111709259 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:111709259C>T ENST00000435970.1 - 10 1474 c.658G>A c.(658-660)Gaa>Aaa p.E220K REV3L_ENST00000368802.3_Missense_Mutation_p.E298K|REV3L_ENST00000368805.1_Missense_Mutation_p.E298K|REV3L_ENST00000358835.3_Missense_Mutation_p.E298K O60673 DPOLZ_HUMAN REV3-like, polymerase (DNA directed), zeta, catalytic subunit 298 DNA-dependent DNA replication|translesion synthesis nucleus|zeta DNA polymerase complex DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1) 88 all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021) OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663) AATTTTTTTTCACTTTCTGTT 0.289000 DNA polymerases (catalytic subunits) 18 69 0 0 1 0 0 KANK4 163782 broad.mit.edu 37 1 62732416 62732416 + Silent SNP T T A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:62732416T>A ENST00000371153.4 - 6 2685 c.2307A>T c.(2305-2307)acA>acT p.T769T KANK4_ENST00000354381.3_Silent_p.T141T|KANK4_ENST00000371150.1_Silent_p.T125T NM_181712.4 NP_859063.3 Q5T7N3 KANK4_HUMAN KN motif and ankyrin repeat domains 4 769 NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2) 81 AGAGCTGGTCTGTGGTGGTCC 0.423000 26 101 0 0 1 0 0 RELN 5649 broad.mit.edu 37 7 103276873 103276873 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:103276873G>A ENST00000428762.1 - 18 2271 c.2112C>T c.(2110-2112)tcC>tcT p.S704S RELN_ENST00000424685.2_Silent_p.S704S|RELN_ENST00000343529.5_Silent_p.S704S NM_005045.3 NP_005036.2 P78509 RELN_HUMAN reelin 704 axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2) 227 COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184) GGAATGTCTGGGATGCCATCT 0.433000 13 62 0 0 1 0 0 CD93 22918 broad.mit.edu 37 20 23065922 23065922 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr20:23065922C>T ENST00000246006.4 - 1 1055 c.908G>A c.(907-909)cGa>cAa p.R303Q NM_012072.3 NP_036204.2 Q9NPY3 C1QR1_HUMAN CD93 molecule 303 EGF-like 2. cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis plasma membrane calcium ion binding|complement component C1q binding|receptor activity|sugar binding NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118) GCAAGGGTTTCGAGAGGCACA 0.652000 56 131 0 0 1 0 0 C7 730 broad.mit.edu 37 5 40947713 40947713 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:40947713C>T ENST00000313164.9 + 8 1107 c.748C>T c.(748-750)Ctg>Ttg p.L250L NM_000587.2 NP_000578.2 P10643 CO7_HUMAN complement component 7 250 MACPF. complement activation, alternative pathway|complement activation, classical pathway|cytolysis extracellular region|membrane attack complex Ovarian(839;0.0112) GAGTTACCAACTGCTGGTTGT 0.403000 17 31 0 0 1 0 0 BAI3 577 broad.mit.edu 37 6 69646545 69646545 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:69646545G>A ENST00000370598.1 + 5 1824 c.1003G>A c.(1003-1005)Gtt>Att p.V335I NM_001704.2 NP_001695.1 O60242 BAI3_HUMAN brain-specific angiogenesis inhibitor 3 335 TSP type-1 1. negative regulation of angiogenesis|neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 210 all_lung(197;0.212) AGAATCAAGGGTTTGCAATAA 0.468000 6 19 0 0 1 0 0 PRAMEF7 441871 broad.mit.edu 37 1 12980107 12980107 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:12980107G>A ENST00000361079.2 + 4 1382 c.1299G>A c.(1297-1299)ggG>ggA p.G433G PRAME family member 7 endometrium(2)|kidney(5)|large_intestine(3)|lung(4)|prostate(2)|upper_aerodigestive_tract(2) 18 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) CTGAACTTGGGGCTGAGCTGA 0.592000 68 134 0 0 1 0 0 PLCB3 5331 broad.mit.edu 37 11 64022381 64022381 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:64022381C>T ENST00000540288.1 + 4 361 c.258C>T c.(256-258)atC>atT p.I86I PLCB3_ENST00000279230.6_Silent_p.I86I|PLCB3_ENST00000325234.5_Intron NM_000932.2 NP_000923.1 Q01970 PLCB3_HUMAN phospholipase C, beta 3 (phosphatidylinositol-specific) 86 intracellular signal transduction|lipid catabolic process|synaptic transmission cytosol calcium ion binding|calmodulin binding|phosphatidylinositol phospholipase C activity|signal transducer activity breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|urinary_tract(1) 33 ACCCCAAGATCCGGGAAGTTC 0.607000 25 46 0 0 1 0 0 SMC6 79677 broad.mit.edu 37 2 17898011 17898011 + Missense_Mutation SNP A A T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:17898011A>T ENST00000448223.2 - 14 1612 c.1343T>A c.(1342-1344)aTt>aAt p.I448N SMC6_ENST00000402989.1_Missense_Mutation_p.I448N|SMC6_ENST00000381272.4_Missense_Mutation_p.I474N|SMC6_ENST00000351948.4_Missense_Mutation_p.I448N NM_001142286.1 NP_001135758.1 Q96SB8 SMC6_HUMAN structural maintenance of chromosomes 6 448 DNA recombination|DNA repair chromosome|nucleus ATP binding NS(1)|biliary_tract(1)|breast(6)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 43 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158) AACTTACTTAATTTTGCCATG 0.318000 5 123 0 0 1 0 0 ABCC4 10257 broad.mit.edu 37 13 95725532 95725532 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr13:95725532C>T ENST00000376887.4 - 24 3058 c.2944G>A c.(2944-2946)Gca>Aca p.A982T ABCC4_ENST00000412704.1_Missense_Mutation_p.A935T|ABCC4_ENST00000474158.1_5'UTR NM_005845.3 NP_005836.2 O15439 MRP4_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 4 982 ABC transmembrane type-1 2. platelet activation|platelet degranulation integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane 15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1) 43 all_neural(89;0.0878)|Medulloblastoma(90;0.163) Cefazolin(DB01327) TAGGACAGTGCCAAACCAACC 0.483000 7 50 0 0 1 0 0 RGS7 6000 broad.mit.edu 37 1 240979678 240979678 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:240979678C>T ENST00000366565.1 - 11 1103 c.722G>A c.(721-723)aGt>aAt p.S241N RGS7_ENST00000366563.1_Missense_Mutation_p.S241N|RGS7_ENST00000401882.1_Missense_Mutation_p.S188N|RGS7_ENST00000331110.7_Missense_Mutation_p.S215N|RGS7_ENST00000446183.2_Missense_Mutation_p.S157N|RGS7_ENST00000348120.2_Missense_Mutation_p.S188N|RGS7_ENST00000366564.1_Missense_Mutation_p.S241N|RGS7_ENST00000407727.1_Missense_Mutation_p.S241N|RGS7_ENST00000366562.4_Missense_Mutation_p.S241N NM_002924.4 NP_002915.3 P49802 RGS7_HUMAN regulator of G-protein signaling 7 241 G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway cytoplasm|heterotrimeric G-protein complex GTPase activator activity|protein binding|signal transducer activity breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 76 all_cancers(173;0.0131) OV - Ovarian serous cystadenocarcinoma(106;0.027) GTGGGTAGGACTGTGACTTCT 0.353000 70 184 0 0 1 0 0 PTPN6 5777 broad.mit.edu 37 12 7067081 7067081 + Splice_Site SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:7067081G>A ENST00000456013.1 + 11 1448 c.e11-1 PTPN6_ENST00000318974.9_Splice_Site|PTPN6_ENST00000399448.1_Splice_Site|PTPN6_ENST00000447931.2_Splice_Site NM_080549.3 NP_536859.1 P29350 PTN6_HUMAN protein tyrosine phosphatase, non-receptor type 6 apoptosis|cell junction assembly|G-protein coupled receptor protein signaling pathway|interferon-gamma-mediated signaling pathway|leukocyte migration|negative regulation of peptidyl-tyrosine phosphorylation|platelet activation|positive regulation of cell proliferation|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of G1/S transition of mitotic cell cycle|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|T cell costimulation|type I interferon-mediated signaling pathway cytosol|membrane|nucleus protein binding|protein tyrosine phosphatase activity breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|prostate(3) 18 CCTCGGCTTAGGGAGACCTGA 0.607000 71 160 0 0 1 0 0 KCNQ2 3785 broad.mit.edu 37 20 62070969 62070969 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr20:62070969G>A ENST00000354587.3 - 6 1085 c.909C>T c.(907-909)tcC>tcT p.S303S KCNQ2_ENST00000370221.1_Silent_p.S303S|KCNQ2_ENST00000370226.1_Silent_p.S303S|KCNQ2_ENST00000359125.2_Silent_p.S303S|KCNQ2_ENST00000360480.3_Silent_p.S303S|KCNQ2_ENST00000344425.5_Silent_p.S303S|KCNQ2_ENST00000357249.2_Silent_p.S303S|KCNQ2_ENST00000370222.3_Silent_p.S303S|KCNQ2_ENST00000344462.3_Silent_p.S303S|KCNQ2_ENST00000430658.1_Silent_p.S303S|KCNQ2_ENST00000359689.1_Silent_p.S303S|KCNQ2_ENST00000370224.1_Silent_p.S303S O43526 KCNQ2_HUMAN potassium voltage-gated channel, KQT-like subfamily, member 2 303 axon guidance|synaptic transmission voltage-gated potassium channel complex voltage-gated potassium channel activity biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|liver(1)|lung(30)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 65 all_cancers(38;1.24e-11) BRCA - Breast invasive adenocarcinoma(10;1.04e-05) Amitriptyline(DB00321) GCGCGAAGAAGGAGACACCGA 0.637000 8 129 0 0 1 0 0 IQCH 64799 broad.mit.edu 37 15 67793024 67793024 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr15:67793024G>A ENST00000335894.4 + 21 3090 c.3024G>A c.(3022-3024)atG>atA p.M1008I IQCH_ENST00000360277.4_3'UTR|IQCH_ENST00000546225.1_Missense_Mutation_p.M665I|IQCH_ENST00000358767.3_3'UTR|IQCH-AS1_ENST00000559298.1_lincRNA NM_001031715.2 NP_001026885.1 Q86VS3 IQCH_HUMAN IQ motif containing H 1008 NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(2)|pancreas(2)|skin(5)|upper_aerodigestive_tract(1) 33 Colorectal(3;0.0856) AAAACAAAATGAGATTTGAAG 0.343000 27 51 0 0 1 0 0 NPFFR1 64106 broad.mit.edu 37 10 72025833 72025833 + Splice_Site SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:72025833C>T ENST00000277942.5 - 2 329 c.322_splice c.e2+1 p.G108_splice NM_022146.4 NP_071429.1 Q9GZQ6 NPFF1_HUMAN neuropeptide FF receptor 1 108 integral to membrane|plasma membrane neuropeptide receptor activity endometrium(2)|lung(1) 3 CCGCACTCACCAGTGATGAGG 0.527000 26 75 0 0 1 0 0 CACNA1S 779 broad.mit.edu 37 1 201030461 201030461 + Silent SNP G G A rs150020550 TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:201030461G>A ENST00000362061.3 - 25 3415 c.3189C>T c.(3187-3189)ttC>ttT p.F1063F CACNA1S_ENST00000367338.3_Silent_p.F1063F NM_000069.2 NP_000060.2 Q13698 CAC1S_HUMAN calcium channel, voltage-dependent, L type, alpha 1S subunit 1063 Dihydropyridine binding (By similarity). axon guidance I band|T-tubule|voltage-gated calcium channel complex high voltage-gated calcium channel activity p.F1063F(1) NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 102 Magnesium Sulfate(DB00653)|Verapamil(DB00661) TGACAATGACGAAGCCCACAA 0.522000 7 103 0 0 1 0 0 PXMP4 11264 broad.mit.edu 37 20 32298409 32298409 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr20:32298409G>A ENST00000217398.3 - 3 449 c.347C>T c.(346-348)tCc>tTc p.S116F PXMP4_ENST00000409299.3_Silent_p.F109F|PXMP4_ENST00000344022.3_Intron Q9Y6I8 PXMP4_HUMAN peroxisomal membrane protein 4, 24kDa 0 integral to membrane|membrane fraction|mitochondrial inner membrane|peroxisomal membrane protein transporter activity NS(1)|endometrium(2)|large_intestine(2)|lung(8) 13 TACCCCCGAGGAAGGCCGCCA 0.557000 28 74 0 0 1 0 0 TACC3 10460 broad.mit.edu 37 4 1739053 1739053 + Missense_Mutation SNP C C T rs114631890 by1000genomes TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:1739053C>T ENST00000313288.4 + 9 1940 c.1834C>T c.(1834-1836)Cct>Tct p.P612S NM_006342.2 NP_006333.1 Q9Y6A5 TACC3_HUMAN transforming, acidic coiled-coil containing protein 3 612 centrosome central_nervous_system(1)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 25 Breast(71;0.212)|all_epithelial(65;0.241) OV - Ovarian serous cystadenocarcinoma(23;0.00765)|Epithelial(3;0.0126) ACTGGACATTCCTGTAAGTCC 0.517000 13 45 0 0 1 0 0 LGR5 8549 broad.mit.edu 37 12 71834033 71834033 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:71834033C>T ENST00000266674.5 + 1 484 c.173C>T c.(172-174)tCg>tTg p.S58L LGR5_ENST00000540815.2_Missense_Mutation_p.S58L|TSPAN8_ENST00000393330.2_Intron|LGR5_ENST00000536515.1_Missense_Mutation_p.S58L O75473 LGR5_HUMAN leucine-rich repeat containing G protein-coupled receptor 5 58 LRRNT. integral to plasma membrane protein-hormone receptor activity NUP107/LGR5(2) endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3) 48 CTGGGGCTCTCGGAGCTGCCT 0.607000 25 65 0 0 1 0 0 KMT2C 58508 broad.mit.edu 37 7 151900067 151900067 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:151900067G>A ENST00000355193.2 - 26 4262 c.4044C>T c.(4042-4044)taC>taT p.Y1348Y KMT2C_ENST00000262189.6_Silent_p.Y1348Y lysine (K)-specific methyltransferase 2C TCCTTTTTCGGTATCTCTTCT 0.318000 33 104 0 0 1 0 0 AKR1B10 57016 broad.mit.edu 37 7 134216720 134216720 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:134216720G>A ENST00000359579.4 + 3 615 c.295G>A c.(295-297)Gac>Aac p.D99N AKR1B10_ENST00000475559.1_3'UTR NM_020299.4 NP_064695.3 O60218 AK1BA_HUMAN aldo-keto reductase family 1, member B10 (aldose reductase) 99 cellular aldehyde metabolic process|digestion|steroid metabolic process cytoplasm aldo-keto reductase (NADP) activity|protein binding NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(9)|skin(5) 20 GACCCTCAAGGACCTGAAGCT 0.463000 66 223 0 0 1 0 0 DESI2 51029 broad.mit.edu 37 1 244852603 244852603 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:244852603C>T ENST00000302550.11 + 3 547 c.168C>T c.(166-168)tcC>tcT p.S56S DESI2_ENST00000263831.7_Intron NM_016076.3 NP_057160.2 Q9BSY9 PPDE1_HUMAN desumoylating isopeptidase 2 56 PPPDE peptidase. TTGAAATTTCCCCAGGAAATG 0.328000 6 239 0 0 1 0 0 PRAMEF1 65121 broad.mit.edu 37 1 12853535 12853535 + Silent SNP G G A rs141929388 TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:12853535G>A ENST00000332296.7 + 2 262 c.159G>A c.(157-159)acG>acA p.T53T NM_023013.2 NP_075389.1 O95521 PRAM1_HUMAN PRAME family member 1 53 cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 35 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) AGACTCTGACGGTGATGGTTC 0.552000 90 210 0 0 1 0 0 TNS4 84951 broad.mit.edu 37 17 38645088 38645088 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:38645088G>A ENST00000254051.6 - 3 731 c.573C>T c.(571-573)ccC>ccT p.P191P NM_032865.5 NP_116254.4 Q8IZW8 TENS4_HUMAN tensin 4 191 Ser-rich. apoptosis|protein localization cytoplasm|cytoskeleton|focal adhesion actin binding NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(1) 30 Breast(137;0.000496) STAD - Stomach adenocarcinoma(5;5.91e-05) GTGTCTCTCGGGGGACGTCTC 0.672000 15 130 0 0 1 0 0 OR6S1 341799 broad.mit.edu 37 14 21109126 21109126 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr14:21109126G>A ENST00000320704.3 - 1 724 c.725C>T c.(724-726)tCt>tTt p.S242F NM_001001968.1 NP_001001968.1 Q8NH40 OR6S1_HUMAN olfactory receptor, family 6, subfamily S, member 1 242 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity kidney(1)|large_intestine(3)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 23 all_cancers(95;0.00304) Epithelial(56;1.23e-06)|all cancers(55;1.01e-05) GBM - Glioblastoma multiforme(265;0.0135) GGTACAGGTAGAGAAGGCCTT 0.527000 41 79 0 0 1 0 0 PDGFRB 5159 broad.mit.edu 37 5 149503858 149503858 + Missense_Mutation SNP G G A rs144050370 TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:149503858G>A ENST00000261799.4 - 14 2447 c.1978C>T c.(1978-1980)Ccc>Tcc p.P660S NM_002609.3 NP_002600.1 P09619 PGFRB_HUMAN platelet-derived growth factor receptor, beta polypeptide 660 Protein kinase. aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1) 75 all_hematologic(541;0.224) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268) TTCAGGTGGGGCCCAAGGTGA 0.632000 T """ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP""" """MPD, AML, CMML, CML""" 5 87 0 0 1 0 0 RTN4RL2 349667 broad.mit.edu 37 11 57235085 57235085 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:57235085C>T ENST00000335099.3 + 2 352 c.35C>T c.(34-36)cCc>cTc p.P12L RTN4RL2_ENST00000533205.1_Missense_Mutation_p.P12L|RTN4RL2_ENST00000395120.2_Missense_Mutation_p.P12L NM_178570.1 NP_848665.1 Q86UN3 R4RL2_HUMAN reticulon 4 receptor-like 2 12 axon regeneration anchored to plasma membrane receptor activity NS(1)|endometrium(1)|large_intestine(2)|lung(2) 6 CCCACAGCTCCCGCCTCGGCC 0.687000 30 257 0 0 1 0 0 MYO5B 4645 broad.mit.edu 37 18 47429135 47429135 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr18:47429135G>A ENST00000285039.7 - 21 2939 c.2640C>T c.(2638-2640)ttC>ttT p.F880F MYO5B_ENST00000324581.6_Silent_p.F21F NM_001080467.2 NP_001073936.1 Q9ULV0 MYO5B_HUMAN myosin VB 880 Arg-rich.|IQ 5. protein transport myosin complex actin binding|ATP binding|calmodulin binding|motor activity NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4) 87 READ - Rectum adenocarcinoma(32;0.103) GCAGCCGCTGGAAGTGCCTGC 0.627000 24 47 0 0 1 0 0 BMP1 649 broad.mit.edu 37 8 22054770 22054770 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:22054770C>T ENST00000306385.5 + 15 2614 c.1944C>T c.(1942-1944)ttC>ttT p.F648F BMP1_ENST00000397816.3_Silent_p.F648F|BMP1_ENST00000354870.5_3'UTR|BMP1_ENST00000306349.8_Silent_p.F648F NM_006129.4 NP_006120.1 P13497 BMP1_HUMAN bone morphogenetic protein 1 648 CUB 3. cartilage condensation|cell differentiation|lipid metabolic process|lipoprotein metabolic process|ossification|positive regulation of cartilage development|proteolysis extracellular space calcium ion binding|cytokine activity|growth factor activity|metalloendopeptidase activity|zinc ion binding p.F648F(1) breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3) 30 Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11) AGTACGACTTCGTGGAGGTGC 0.587000 78 80 0 0 1 0 0 SLC25A35 399512 broad.mit.edu 37 17 8197821 8197821 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:8197821G>A ENST00000380067.2 - 1 349 c.305C>T c.(304-306)cCt>cTt p.P102L SLC25A35_ENST00000577745.1_Missense_Mutation_p.P102L|SLC25A35_ENST00000580340.1_Missense_Mutation_p.P102L|SLC25A35_ENST00000579192.1_Missense_Mutation_p.P102L|SLC25A35_ENST00000396278.1_Missense_Mutation_p.P102L NM_201520.1 NP_958928.1 Q3KQZ1 S2535_HUMAN solute carrier family 25, member 35 102 transport integral to membrane|mitochondrial inner membrane breast(2)|large_intestine(2)|lung(2) 6 GCTGCGGGCAGGACTGTGGGT 0.632000 37 45 0 0 1 0 0 MXRA5 25878 broad.mit.edu 37 X 3235656 3235656 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chrX:3235656G>A ENST00000217939.6 - 6 6220 c.6066C>T c.(6064-6066)gtC>gtT p.V2022V NM_015419.3 NP_056234.2 Q9NR99 MXRA5_HUMAN matrix-remodelling associated 5 2022 Ig-like C2-type 4. extracellular region NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2) 157 all_lung(23;0.00031)|Lung NSC(23;0.000946) CGCACTTATAGACGCCTCTGT 0.642000 16 37 0 0 1 0 0 PANK4 55229 broad.mit.edu 37 1 2441534 2441534 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:2441534G>A ENST00000378466.3 - 17 2013 c.2001C>T c.(1999-2001)atC>atT p.I667I PANK4_ENST00000435556.3_Silent_p.I628I NM_018216.1 NP_060686.1 Q9NVE7 PANK4_HUMAN pantothenate kinase 4 667 coenzyme A biosynthetic process cytoplasm ATP binding|pantothenate kinase activity breast(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4) 23 all_cancers(77;0.000158)|all_epithelial(69;8.01e-05)|all_lung(157;0.0212)|Lung NSC(156;0.0376)|Ovarian(185;0.0634) all_epithelial(116;3.18e-20)|all_lung(118;1.67e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123) Epithelial(90;1.54e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.95e-23)|GBM - Glioblastoma multiforme(42;2.81e-08)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.00445)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201) GCTCTGCCACGATGAGGGACT 0.657000 6 23 0 0 1 0 0 C20orf96 140680 broad.mit.edu 37 20 257922 257922 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr20:257922G>A ENST00000360321.2 - 7 806 c.668C>T c.(667-669)tCt>tTt p.S223F C20orf96_ENST00000400269.3_Missense_Mutation_p.S165F|C20orf96_ENST00000382369.5_Missense_Mutation_p.S188F NM_080571.1|NM_153269.2 NP_542138.1|NP_695001.2 Q9NUD7 CT096_HUMAN chromosome 20 open reading frame 96 223 endometrium(3)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|urinary_tract(1) 12 all_cancers(10;0.00959)|Lung NSC(37;0.227) OV - Ovarian serous cystadenocarcinoma(29;0.149) GATCTGGACAGACTTGATGGA 0.557000 84 248 0 0 1 0 0 M1AP 130951 broad.mit.edu 37 2 74803670 74803670 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:74803670C>T ENST00000290536.5 - 6 961 c.845G>A c.(844-846)aGa>aAa p.R282K M1AP_ENST00000464686.1_5'UTR|M1AP_ENST00000358434.2_5'UTR|M1AP_ENST00000536235.1_Missense_Mutation_p.R282K|M1AP_ENST00000409585.1_Missense_Mutation_p.R282K NM_138804.3 NP_620159.2 meiosis 1 associated protein GTCATCCATTCTCAAGGAGCC 0.488000 20 39 0 0 1 0 0 IL15RA 3601 broad.mit.edu 37 10 5995170 5995170 + Splice_Site SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:5995170C>T ENST00000525219.2 - 7 879 c.e7-1 IL15RA_ENST00000534292.1_Splice_Site|IL15RA_ENST00000379971.1_3'UTR|IL15RA_ENST00000379977.3_Splice_Site|IL15RA_ENST00000397248.2_Splice_Site|IL15RA_ENST00000397251.3_Splice_Site|IL15RA_ENST00000397250.2_Splice_Site|IL15RA_ENST00000528354.1_Splice_Site NM_001243539.1 NP_001230468.1 Q13261 I15RA_HUMAN interleukin 15 receptor, alpha cell proliferation cytoplasmic vesicle membrane|endoplasmic reticulum membrane|extracellular space|Golgi membrane|integral to membrane|nuclear membrane cytokine receptor activity cervix(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1) 5 GGGAGTTTGCCTGCAAAGCAG 0.552000 22 64 0 0 1 0 0 PLEKHG4B 153478 broad.mit.edu 37 5 155548 155548 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:155548G>A ENST00000283426.6 + 7 1180 c.1130G>A c.(1129-1131)aGa>aAa p.R377K NM_052909.3 NP_443141.3 Q96PX9 PKH4B_HUMAN pleckstrin homology domain containing, family G (with RhoGef domain) member 4B 377 regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3) 11 all cancers(22;0.0253)|Lung(60;0.113) Kidney(1;0.119) AGAACCCCAAGAACAGCCCAG 0.453000 29 74 0 0 1 0 0 ANKS1B 56899 broad.mit.edu 37 12 100173675 100173675 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:100173675G>A ENST00000547776.2 - 6 820 c.821C>T c.(820-822)tCt>tTt p.S274F ANKS1B_ENST00000547010.1_Intron|ANKS1B_ENST00000329257.7_Missense_Mutation_p.S274F NM_152788.4 NP_690001.3 Q7Z6G8 ANS1B_HUMAN ankyrin repeat and sterile alpha motif domain containing 1B 274 Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1) 70 all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209) OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06) AATCTGGAGAGATTTCTGAGA 0.343000 36 60 0 0 1 0 0 SAFB 6294 broad.mit.edu 37 19 5653171 5653171 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:5653171C>T ENST00000292123.5 + 10 1446 c.1339C>T c.(1339-1341)Cgc>Tgc p.R447C SAFB_ENST00000538656.1_Missense_Mutation_p.R290C|SAFB_ENST00000433404.1_Missense_Mutation_p.R277C|SAFB_ENST00000586934.1_3'UTR|SAFB_ENST00000588852.1_Missense_Mutation_p.R447C|SAFB_ENST00000454510.1_Missense_Mutation_p.R378C|SAFB_ENST00000592224.1_Missense_Mutation_p.R447C NM_001201338.1|NM_001201339.1|NM_002967.3 NP_001188267.1|NP_001188268.1|NP_002958.2 Q15424 SAFB1_HUMAN scaffold attachment factor B 447 RRM. chromatin organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus double-stranded DNA binding|nucleotide binding|protein binding|RNA binding breast(3)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(6)|ovary(2)|skin(1) 23 UCEC - Uterine corpus endometrioid carcinoma (162;0.000222) TCCTGGAGCTCGCTGTTACGG 0.537000 12 59 0 0 1 0 0 KIF19 124602 broad.mit.edu 37 17 72349369 72349369 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:72349369G>A ENST00000389916.4 + 16 2287 c.2149G>A c.(2149-2151)Gcc>Acc p.A717T NM_153209.3 NP_694941.2 Q2TAC6 KIF19_HUMAN kinesin family member 19 717 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 41 TGGTACTGGGGCCTGGCAGGC 0.627000 5 16 0 0 1 0 0 VAV1 7409 broad.mit.edu 37 19 6828177 6828177 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:6828177C>T ENST00000304076.2 + 10 1112 c.1018C>T c.(1018-1020)Ctc>Ttc p.L340F VAV1_ENST00000596764.1_Missense_Mutation_p.L308F|VAV1_ENST00000599806.1_Missense_Mutation_p.L285F|VAV1_ENST00000539284.1_Missense_Mutation_p.L243F|VAV1_ENST00000602142.1_Missense_Mutation_p.L340F NM_001258206.1 NP_001245135.1 P15498 VAV_HUMAN vav 1 guanine nucleotide exchange factor 340 DH. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|T cell costimulation cytosol|plasma membrane metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2) 62 TCACCTCCTTCTCCAGGTGCC 0.567000 25 52 0 0 1 0 0 MYLK 4638 broad.mit.edu 37 3 123452762 123452762 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:123452762G>A ENST00000360772.3 - 11 1459 c.1081C>T c.(1081-1083)Ctg>Ttg p.L361L MYLK_ENST00000346322.5_Silent_p.L361L|MYLK_ENST00000475616.1_Silent_p.L361L|MYLK_ENST00000360304.3_Silent_p.L361L|MYLK_ENST00000359169.1_Silent_p.L361L Q15746 MYLK_HUMAN myosin light chain kinase 361 aorta smooth muscle tissue morphogenesis|muscle contraction cytosol actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 113 Lung NSC(201;0.0496) GBM - Glioblastoma multiforme(114;0.0736) AGGACCCCCAGGCCTGGTGCT 0.647000 72 143 0 0 1 0 0 FBXL7 23194 broad.mit.edu 37 5 15936738 15936738 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:15936738C>T ENST00000504595.1 + 4 1400 c.919C>T c.(919-921)Cgc>Tgc p.R307C FBXL7_ENST00000329673.7_Missense_Mutation_p.R295C|FBXL7_ENST00000510662.1_Missense_Mutation_p.R260C NM_001278317.1|NM_012304.3 NP_001265246.1|NP_036436.1 Q9UJT9 FBXL7_HUMAN F-box and leucine-rich repeat protein 7 307 ubiquitin-dependent protein catabolic process ubiquitin ligase complex protein binding|ubiquitin-protein ligase activity cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 60 CTACCTGCGCCGCTGCGTCCG 0.647000 14 22 0 0 1 0 0 PHACTR3 116154 broad.mit.edu 37 20 58381164 58381164 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr20:58381164G>A ENST00000371015.1 + 8 1710 c.1243G>A c.(1243-1245)Gaa>Aaa p.E415K PHACTR3_ENST00000541461.1_Missense_Mutation_p.E374K|PHACTR3_ENST00000395636.2_Missense_Mutation_p.E374K|PHACTR3_ENST00000359926.3_Missense_Mutation_p.E412K|PHACTR3_ENST00000395639.4_Missense_Mutation_p.E304K|PHACTR3_ENST00000355648.4_Missense_Mutation_p.E374K|PHACTR3_ENST00000361300.4_Missense_Mutation_p.E304K NM_080672.3 NP_542403.1 Q96KR7 PHAR3_HUMAN phosphatase and actin regulator 3 415 nuclear matrix actin binding|protein phosphatase inhibitor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|liver(2)|lung(32)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 59 all_lung(29;0.00344) BRCA - Breast invasive adenocarcinoma(7;2.76e-09) AAGCAAACAGGAACTAGAAGA 0.517000 97 198 0 0 1 0 0 NCR3 259197 broad.mit.edu 37 6 31560496 31560496 + Translation_Start_Site SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:31560496C>T ENST00000376073.4 - 1 266 c.3G>A c.(1-3)atG>atA p.M1I NCR3_ENST00000491161.1_Intron|NCR3_ENST00000376071.4_Start_Codon_SNP_p.M1I|NCR3_ENST00000340027.5_Start_Codon_SNP_p.M1I|NCR3_ENST00000376072.3_Start_Codon_SNP_p.M1I NM_001145466.1 NP_001138938.1 O14931 NCTR3_HUMAN natural cytotoxicity triggering receptor 3 1 cell recognition|immune response|inflammatory response|positive regulation of natural killer cell mediated cytotoxicity integral to plasma membrane receptor activity cervix(1)|large_intestine(2)|liver(1)|lung(2)|ovary(1)|skin(2) 9 GCATCCAGGCCATGTCGGAAG 0.587000 40 52 0 0 1 0 0 ZFHX4 79776 broad.mit.edu 37 8 77765682 77765682 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:77765682C>T ENST00000521891.2 + 10 6973 c.6525C>T c.(6523-6525)caC>caT p.H2175H ZFHX4_ENST00000455469.2_Silent_p.H2130H|ZFHX4_ENST00000050961.6_Silent_p.H2130H|ZFHX4_ENST00000518282.1_Silent_p.H2149H NM_024721.4 NP_078997.4 Q86UP3 ZFHX4_HUMAN zinc finger homeobox 4 2130 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6) 432 BRCA - Breast invasive adenocarcinoma(89;0.0895) TTATCAAACACTGGTTTAGAA 0.363000 HNSCC(33;0.089) 57 82 0 0 1 0 0 CR2 1380 broad.mit.edu 37 1 207642560 207642560 + Missense_Mutation SNP A A T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:207642560A>T ENST00000367057.3 + 5 989 c.800A>T c.(799-801)aAa>aTa p.K267I CR2_ENST00000367058.3_Missense_Mutation_p.K267I|CR2_ENST00000485707.1_3'UTR|CR2_ENST00000458541.2_Missense_Mutation_p.K267I|CR2_ENST00000367059.3_Missense_Mutation_p.K267I NM_001006658.2 NP_001006659.1 P20023 CR2_HUMAN complement component (3d/Epstein Barr virus) receptor 2 267 Sushi 4. complement activation, classical pathway|innate immune response integral to membrane|plasma membrane complement receptor activity|protein homodimerization activity NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1) 69 GCTTGGACCAAAATGCCAGTA 0.463000 9 193 0 0 1 0 0 ADCY10 55811 broad.mit.edu 37 1 167802365 167802365 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:167802365C>T ENST00000367848.1 - 25 3674 c.3177G>A c.(3175-3177)aaG>aaA p.K1059K ADCY10_ENST00000367851.4_Silent_p.K1151K|ADCY10_ENST00000485964.1_5'UTR|ADCY10_ENST00000545172.1_Silent_p.K998K Q96PN6 ADCYA_HUMAN adenylate cyclase 10 (soluble) 1151 intracellular signal transduction|spermatogenesis cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction adenylate cyclase activity|ATP binding|magnesium ion binding autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1) 63 TCAGCATTTTCTTGGCAAGCA 0.428000 16 427 0 0 1 0 0 UMODL1 89766 broad.mit.edu 37 21 43539398 43539398 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr21:43539398C>T ENST00000400427.1 + 14 3217 c.2821C>T c.(2821-2823)Ctg>Ttg p.L941L UMODL1_ENST00000408910.2_Silent_p.L885L|UMODL1_ENST00000408989.2_Silent_p.L1013L|UMODL1_ENST00000400424.1_Silent_p.L813L NM_001199527.1 NP_001186456.1 Q5DID0 UROL1_HUMAN uromodulin-like 1 885 cytoplasm|extracellular region|integral to membrane|plasma membrane calcium ion binding|peptidase inhibitor activity breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 47 GACCGTGCCTCTGCTGGAGGT 0.582000 92 233 0 0 1 0 0 GRK5 2869 broad.mit.edu 37 10 121156240 121156240 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:121156240G>A ENST00000392870.2 + 4 624 c.295G>A c.(295-297)Gga>Aga p.G99R GRK5_ENST00000369108.3_5'UTR NM_005308.2 NP_005299.1 P34947 GRK5_HUMAN G protein-coupled receptor kinase 5 99 N-terminal.|RGS. G-protein signaling, coupled to cAMP nucleotide second messenger|regulation of G-protein coupled receptor protein signaling pathway|tachykinin receptor signaling pathway cytoplasm|plasma membrane|soluble fraction ATP binding|G-protein coupled receptor kinase activity|phospholipid binding|protein kinase C binding|signal transducer activity endometrium(2)|large_intestine(5)|lung(15)|skin(3)|stomach(1)|urinary_tract(1) 27 Lung NSC(174;0.0971)|all_lung(145;0.127)|Ovarian(717;0.249) all cancers(201;0.0227) TGAAAAACTGGGAGAGAAAGG 0.418000 13 156 0 0 1 0 0 CATSPER4 378807 broad.mit.edu 37 1 26524815 26524815 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:26524815C>T ENST00000456354.2 + 6 784 c.717C>T c.(715-717)ttC>ttT p.F239F NM_198137.1 NP_937770.1 Q7RTX7 CTSR4_HUMAN cation channel, sperm associated 4 239 cell differentiation|multicellular organismal development|spermatogenesis cilium|flagellar membrane|integral to membrane calcium channel activity|voltage-gated ion channel activity NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2) 27 all_cancers(24;2.05e-18)|Colorectal(325;0.000147)|Renal(390;0.00211)|all_lung(284;0.00218)|Lung NSC(340;0.00239)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0589)|all_neural(195;0.0687) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.52e-26)|Colorectal(126;1.34e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000755)|BRCA - Breast invasive adenocarcinoma(304;0.000995)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00878)|READ - Rectum adenocarcinoma(331;0.0649) TTGGTGCATTCGTGCCCAAGC 0.512000 149 332 0 0 1 0 0 UPP2 151531 broad.mit.edu 37 2 158977966 158977966 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:158977966C>T ENST00000605860.1 + 8 717 c.671C>T c.(670-672)tCc>tTc p.S224F UPP2_ENST00000409859.4_Missense_Mutation_p.S224F|UPP2_ENST00000460456.1_Intron|UPP2_ENST00000005756.4_Missense_Mutation_p.S167F O95045 UPP2_HUMAN uridine phosphorylase 2 167 nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process|pyrimidine nucleoside salvage|uridine metabolic process cytosol|type III intermediate filament uridine phosphorylase activity breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1) 31 GCTGTAGACTCCTTCTTTAAG 0.408000 12 318 0 0 1 0 0 CLCN2 1181 broad.mit.edu 37 3 184073251 184073251 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:184073251C>T ENST00000265593.4 - 12 1408 c.1237G>A c.(1237-1239)Gag>Aag p.E413K CLCN2_ENST00000457512.1_Missense_Mutation_p.E413K|CLCN2_ENST00000423355.2_Missense_Mutation_p.E54K|EIF2B5_ENST00000444495.1_Intron|CLCN2_ENST00000434054.2_Missense_Mutation_p.E369K|CLCN2_ENST00000475279.1_5'UTR|CLCN2_ENST00000344937.7_Missense_Mutation_p.E413K NM_004366.5 NP_004357.3 P51788 CLCN2_HUMAN chloride channel, voltage-sensitive 2 413 chloride channel complex voltage-gated chloride channel activity breast(2)|central_nervous_system(4)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 27 all_cancers(143;6.66e-11)|Ovarian(172;0.0339) Epithelial(37;2.22e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) Lubiprostone(DB01046) TCTAGCTCCTCCACCAGGCCC 0.592000 37 85 0 0 1 0 0 ADAMTS3 9508 broad.mit.edu 37 4 73280680 73280680 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:73280680C>T ENST00000286657.4 - 4 549 c.513G>A c.(511-513)atG>atA p.M171I NM_014243.2 NP_055058.2 O15072 ATS3_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 3 171 collagen catabolic process|collagen fibril organization|proteolysis proteinaceous extracellular matrix heparin binding|metalloendopeptidase activity|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 76 Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) CACTTTTTATCATTCCAGCCT 0.328000 30 67 0 0 1 0 0 PDZD2 23037 broad.mit.edu 37 5 31983414 31983414 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:31983414G>A ENST00000438447.1 + 3 1018 c.630G>A c.(628-630)gcG>gcA p.A210A PDZD2_ENST00000282493.3_Silent_p.A210A O15018 PDZD2_HUMAN PDZ domain containing 2 210 cell adhesion cell-cell junction|endoplasmic reticulum|extracellular region|nucleus NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 148 ACCGAACTGCGAAAAAGGGGA 0.537000 55 101 0 0 1 0 0 TRBV6-8 28599 broad.mit.edu 37 7 142124389 142124389 + RNA SNP T T C TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:142124389T>C ENST00000390376.2 - 0 88 CTTCAGGATGTGGAATTTTGG 0.522000 5 237 0 0 1 0 0 MAEL 84944 broad.mit.edu 37 1 166990920 166990920 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:166990920G>A ENST00000367872.4 + 12 1377 c.1133G>A c.(1132-1134)aGg>aAg p.R378K MAEL_ENST00000491055.1_3'UTR|MAEL_ENST00000367870.2_Missense_Mutation_p.R347K NM_032858.1 NP_116247.1 Q96JY0 MAEL_HUMAN maelstrom spermatogenic transposon silencer 378 cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|multicellular organismal development|piRNA metabolic process|spermatogenesis piP-body DNA binding breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(12)|skin(4) 28 TACCCATCTAGGGCAAAAATT 0.378000 41 94 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179542525 179542525 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:179542525G>A ENST00000589042.1 - 146 34338 c.34114C>T c.(34114-34116)Cct>Tct p.P11372S TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.P11055S|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P10128S|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000589487.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 11055 Glu-rich.|Pro-rich. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TCTTCCTCAGGTAGAACTTCC 0.438000 5 208 0 0 1 0 0 TSPAN13 27075 broad.mit.edu 37 7 16817527 16817527 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:16817527C>T ENST00000262067.4 + 4 850 c.417C>T c.(415-417)acC>acT p.T139T TSPAN13_ENST00000466195.1_3'UTR NM_014399.3 NP_055214.1 O95857 TSN13_HUMAN tetraspanin 13 139 integral to plasma membrane|membrane fraction autonomic_ganglia(1)|endometrium(1)|large_intestine(1)|ovary(1)|prostate(1)|skin(1)|stomach(1) 7 Lung NSC(10;0.0494)|all_lung(11;0.109) UCEC - Uterine corpus endometrioid carcinoma (126;0.188) CAAATGACACCTGTCTGGCTG 0.378000 17 70 0 0 1 0 0 MOK 5891 broad.mit.edu 37 14 102700110 102700110 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr14:102700110G>A ENST00000361847.2 - 8 838 c.607C>T c.(607-609)Cct>Tct p.P203S MOK_ENST00000519058.1_5'UTR|MOK_ENST00000523231.1_5'UTR|MOK_ENST00000524214.1_Missense_Mutation_p.P173S|MOK_ENST00000522874.1_Missense_Mutation_p.P202S|MOK_ENST00000524370.1_5'UTR|MOK_ENST00000520266.1_5'UTR|MOK_ENST00000522867.1_5'UTR|MOK_ENST00000193029.6_5'UTR|MOK_ENST00000517966.1_5'UTR|MOK_ENST00000522534.1_5'UTR|MOK_ENST00000561150.1_5'UTR NM_014226.1 NP_055041.1 Q9UQ07 MOK_HUMAN MOK protein kinase 203 Protein kinase. signal transduction Golgi apparatus ATP binding|cyclin-dependent protein kinase activity|protein binding TTTACTCCAGGAAAGAGGGGC 0.498000 19 51 0 0 1 0 0 HTR3C 170572 broad.mit.edu 37 3 183777263 183777263 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:183777263C>T ENST00000318351.1 + 7 794 c.760C>T c.(760-762)Ctg>Ttg p.L254L NM_130770.2 NP_570126.2 Q8WXA8 5HT3C_HUMAN 5-hydroxytryptamine (serotonin) receptor 3C, ionotropic 254 integral to membrane|plasma membrane|postsynaptic membrane extracellular ligand-gated ion channel activity|receptor activity central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(2) 32 all_cancers(143;2.33e-10)|Ovarian(172;0.0303) Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22) CATCATAAACCTGCTGGTGCC 0.507000 47 78 0 0 1 0 0 SETDB2 83852 broad.mit.edu 37 13 50062758 50062758 + Missense_Mutation SNP T T C TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr13:50062758T>C ENST00000354234.4 + 12 2815 c.1909T>C c.(1909-1911)Ttc>Ctc p.F637L SETDB2_ENST00000317257.8_Missense_Mutation_p.F649L NM_001160308.1 NP_001153780.1 Q96T68 SETB2_HUMAN SET domain, bifurcated 2 649 SET. cell division|chromosome segregation|heart looping|left/right axis specification|mitosis|negative regulation of transcription, DNA-dependent chromosome|nucleus DNA binding|histone methyltransferase activity (H3-K9 specific)|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1) 15 Lung NSC(96;0.000408)|Breast(56;0.00131)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236) KIRC - Kidney renal clear cell carcinoma(9;0.206) GBM - Glioblastoma multiforme(99;3.1e-09) TGTCGGCCGCTTCCTTAATGT 0.343000 37 46 0 0 1 0 0 PCLO 27445 broad.mit.edu 37 7 82579669 82579669 + Missense_Mutation SNP T T A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:82579669T>A ENST00000423517.2 - 6 10572 c.10235A>T c.(10234-10236)aAg>aTg p.K3412M PCLO_ENST00000333891.8_Missense_Mutation_p.K3412M|PCLO_ENST00000437081.1_Missense_Mutation_p.K132M NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 3343 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 AGAACTTCTCTTTTTGGGTTG 0.418000 6 159 0 0 1 0 0 MAP7D1 55700 broad.mit.edu 37 1 36642417 36642417 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:36642417C>T ENST00000316156.4 + 7 1695 c.1242C>T c.(1240-1242)ctC>ctT p.L414L MAP7D1_ENST00000373151.2_Silent_p.L451L|MAP7D1_ENST00000373150.4_Silent_p.L419L|MAP7D1_ENST00000474796.1_3'UTR Q3KQU3 MA7D1_HUMAN MAP7 domain containing 1 451 cytoplasm|spindle breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1) 19 Myeloproliferative disorder(586;0.0393) GTGCCCGCCTCTCTGCCAGCA 0.647000 5 11 0 0 1 0 0 PRX 57716 broad.mit.edu 37 19 40902864 40902864 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:40902864G>A ENST00000324001.7 - 7 1665 c.1395C>T c.(1393-1395)ctC>ctT p.L465L PRX_ENST00000291825.7_3'UTR NM_181882.2 NP_870998.2 Q9BXM0 PRAX_HUMAN periaxin 465 55 X 5 AA approximate tandem repeats of [LVMAG]-[PSREQC]-[EDKL]-[LIVMAP]- [AQKHRPE]; that may have a tripeptide spacer of [LV]-P-[KER]. axon ensheathment cytoplasm|nucleus|plasma membrane protein binding breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9) 47 Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384) CCACCTCTGGGAGTCGAACCT 0.602000 78 194 0 0 1 0 0 HSD17B7 51478 broad.mit.edu 37 1 162767649 162767649 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:162767649C>T ENST00000367917.3 + 4 458 c.390C>T c.(388-390)atC>atT p.I130I HSD17B7_ENST00000254521.3_Silent_p.I130I|HSD17B7_ENST00000485405.1_3'UTR|HSD17B7_ENST00000367913.1_3'UTR P56937 DHB7_HUMAN hydroxysteroid (17-beta) dehydrogenase 7 130 cholesterol biosynthetic process endoplasmic reticulum membrane|integral to membrane|plasma membrane 3-keto sterol reductase activity|estradiol 17-beta-dehydrogenase activity endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|skin(1) 9 all_hematologic(112;0.115) NADH(DB00157) GTGATAAGATCACTGCTGATG 0.408000 39 92 0 0 1 0 0 PTPRD 5789 broad.mit.edu 37 9 8389246 8389246 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:8389246C>T ENST00000381196.4 - 34 4915 c.4372G>A c.(4372-4374)Gaa>Aaa p.E1458K PTPRD_ENST00000397617.3_Missense_Mutation_p.E1051K|PTPRD_ENST00000356435.5_Missense_Mutation_p.E1458K|PTPRD_ENST00000358503.5_Missense_Mutation_p.E1436K|PTPRD_ENST00000540109.1_Missense_Mutation_p.E1458K|PTPRD_ENST00000537002.1_Missense_Mutation_p.E1048K|PTPRD_ENST00000486161.1_Missense_Mutation_p.E1051K|PTPRD_ENST00000397611.3_Missense_Mutation_p.E1048K|PTPRD_ENST00000360074.4_Missense_Mutation_p.E1445K|PTPRD_ENST00000355233.5_Missense_Mutation_p.E1052K|PTPRD_ENST00000397606.3_Missense_Mutation_p.E1051K NM_002839.3 NP_002830.1 P23468 PTPRD_HUMAN protein tyrosine phosphatase, receptor type, D 1458 Tyrosine-protein phosphatase 1. transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 168 all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824) all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119) GATCTTTCTTCTAGTTTTGTC 0.388000 TSP Lung(15;0.13) 71 57 0 0 1 0 0 CPS1 1373 broad.mit.edu 37 2 211542673 211542673 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:211542673C>T ENST00000233072.5 + 38 4663 c.4467C>T c.(4465-4467)ttC>ttT p.F1489F CPS1_ENST00000430249.2_Silent_p.F1495F|CPS1_ENST00000451903.2_Silent_p.F1038F NM_001875.4 NP_001866.2 P31327 CPSM_HUMAN carbamoyl-phosphate synthase 1, mitochondrial 1489 carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle mitochondrial nucleoid ATP binding|carbamoyl-phosphate synthase (ammonia) activity breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 142 Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843) AGAGTCTTTTCCACTACAGGC 0.453000 82 208 0 0 1 0 0 THNSL1 79896 broad.mit.edu 37 10 25313988 25313988 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:25313988G>A ENST00000524413.1 + 3 2183 c.1836G>A c.(1834-1836)caG>caA p.Q612Q THNSL1_ENST00000376356.4_Silent_p.Q612Q Q8IYQ7 THNS1_HUMAN threonine synthase-like 1 (S. cerevisiae) 612 threonine biosynthetic process ATP binding|pyridoxal phosphate binding|shikimate kinase activity|threonine synthase activity NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(5)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3) 28 L-Threonine(DB00156)|Pyridoxal Phosphate(DB00114) AACTTCAGCAGGATTTTGTAG 0.403000 29 86 0 0 1 0 0 VPS11 55823 broad.mit.edu 37 11 118944612 118944612 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:118944612C>T ENST00000300793.6 + 8 1228 c.1186C>T c.(1186-1188)Cat>Tat p.H396Y VPS11_ENST00000527798.1_3'UTR NM_021729.4 NP_068375.3 Q9H270 VPS11_HUMAN vacuolar protein sorting 11 homolog (S. cerevisiae) 397 protein transport endocytic vesicle|HOPS complex|late endosome membrane|lysosomal membrane nucleotide binding|protein binding|zinc ion binding autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2) 29 all_hematologic(175;0.0839) Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.88e-05) GTATGGAGACCATCTCTACAG 0.512000 18 10 0 0 1 0 0 AP1M1 8907 broad.mit.edu 37 19 16314278 16314278 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:16314278C>T ENST00000291439.3 + 2 500 c.51C>T c.(49-51)atC>atT p.I17I AP1M1_ENST00000590756.1_Intron|AP1M1_ENST00000429941.2_Silent_p.I17I|AP1M1_ENST00000444449.2_Silent_p.I17I|AP1M1_ENST00000541844.1_Intron NM_032493.3 NP_115882.1 Q9BXS5 AP1M1_HUMAN adaptor-related protein complex 1, mu 1 subunit 17 cellular membrane organization|endosome to melanosome transport|interspecies interaction between organisms|intracellular protein transport|melanosome organization|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane protein binding breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|prostate(2) 21 AGGTGCTCATCTGCCGGAACT 0.582000 27 38 0 0 1 0 0 ZSCAN2 54993 broad.mit.edu 37 15 85164666 85164666 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr15:85164666G>A ENST00000448803.2 + 3 1532 c.1240G>A c.(1240-1242)Gga>Aga p.G414R ZSCAN2_ENST00000538076.1_Intron|ZSCAN2_ENST00000485222.2_Intron|ZSCAN2_ENST00000546148.1_Missense_Mutation_p.G414R|ZSCAN2_ENST00000541040.1_Intron|ZSCAN2_ENST00000327179.6_Missense_Mutation_p.G413R|ZSCAN2_ENST00000358472.3_Missense_Mutation_p.G264R NM_181877.3 NP_870992.2 Q7Z7L9 ZSCA2_HUMAN zinc finger and SCAN domain containing 2 414 cell differentiation|multicellular organismal development|spermatogenesis|viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|liver(2)|lung(4)|ovary(1)|pancreas(1) 19 UCEC - Uterine corpus endometrioid carcinoma (272;0.168)|all cancers(203;5.43e-22) AACCCACACAGGAGAGAAACC 0.557000 34 92 0 0 1 0 0 KL 9365 broad.mit.edu 37 13 33629411 33629411 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr13:33629411C>T ENST00000380099.3 + 3 1566 c.1558C>T c.(1558-1560)Ccc>Tcc p.P520S KL_ENST00000487852.1_3'UTR|KL_ENST00000426690.2_Missense_Mutation_p.P213S NM_004795.3 NP_004786.2 Q9UEF7 KLOT_HUMAN klotho 520 Glycosyl hydrolase-1 2. aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding p.P520S(1) breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5) 41 all_epithelial(80;0.133) Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262) GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05) AGGGACATTTCCCTGTGACTT 0.438000 44 96 0 0 1 0 0 OR8H2 390151 broad.mit.edu 37 11 55873211 55873211 + Silent SNP T T C TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:55873211T>C ENST00000313503.1 + 1 693 c.693T>C c.(691-693)acT>acC p.T231T NM_001005200.1 NP_001005200.1 Q8N162 OR8H2_HUMAN olfactory receptor, family 8, subfamily H, member 2 231 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 61 Esophageal squamous(21;0.00693) TTAATTCCACTTCAGGAAAGC 0.368000 HNSCC(53;0.14) 4 145 0 0 1 0 0 SPINK9 643394 broad.mit.edu 37 5 147715223 147715223 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:147715223C>T ENST00000377906.1 + 1 102 c.47C>T c.(46-48)aCc>aTc p.T16I RP11-373N22.3_ENST00000501695.3_RNA|SPINK9_ENST00000511717.2_Intron NM_001040433.1 NP_001035523.1 Q5DT21 ISK9_HUMAN serine peptidase inhibitor, Kazal type 9 16 extracellular region protein binding|serine-type endopeptidase inhibitor activity ovary(1)|urinary_tract(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ACACTTGCAACCATGTTCAGT 0.448000 27 98 0 0 1 0 0 ITLN2 142683 broad.mit.edu 37 1 160920439 160920439 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:160920439G>A ENST00000368029.3 - 5 561 c.504C>T c.(502-504)tcC>tcT p.S168S ITLN2_ENST00000494442.1_5'UTR NM_080878.2 NP_543154.1 Q8WWU7 ITLN2_HUMAN intelectin 2 168 Fibrinogen C-terminal. signal transduction extracellular region receptor binding|sugar binding endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(1) 19 all_cancers(52;2.99e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00275) GCTGCATGGGGGACTTGTTGG 0.567000 11 231 0 0 1 0 0 KIAA1324L 222223 broad.mit.edu 37 7 86544108 86544108 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:86544108G>A ENST00000450689.2 - 13 1847 c.1662C>T c.(1660-1662)acC>acT p.T554T KIAA1324L_ENST00000297222.6_Silent_p.T314T|KIAA1324L_ENST00000444627.1_Silent_p.T554T|KIAA1324L_ENST00000490995.1_5'UTR|KIAA1324L_ENST00000416314.1_Silent_p.T387T NM_001142749.2 NP_001136221.1 A8MWY0 K132L_HUMAN KIAA1324-like 554 integral to membrane breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(14)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 44 Esophageal squamous(14;0.0058) AGATGATATGGGTGTAAGCTT 0.318000 13 108 0 0 1 0 0 ZNF155 7711 broad.mit.edu 37 19 44495733 44495733 + Missense_Mutation SNP T T C TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:44495733T>C ENST00000270014.2 + 3 177 c.49T>C c.(49-51)Ttc>Ctc p.F17L ZNF155_ENST00000407951.2_Missense_Mutation_p.F28L|ZNF155_ENST00000590615.1_Missense_Mutation_p.F17L NM_001260487.1|NM_198089.2 NP_001247416.1|NP_932355.2 Q12901 ZN155_HUMAN zinc finger protein 155 17 KRAB. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(2) 15 Prostate(69;0.0352) GGCTGTGGTCTTCACTGAGGA 0.532000 11 336 0 0 1 0 0 PLCH1 23007 broad.mit.edu 37 3 155199155 155199155 + Missense_Mutation SNP A A T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:155199155A>T ENST00000460012.1 - 23 4927 c.4570T>A c.(4570-4572)Tat>Aat p.Y1524N PLCH1_ENST00000494598.1_Intron|PLCH1_ENST00000414191.1_Missense_Mutation_p.Y1524N|PLCH1_ENST00000340059.7_Missense_Mutation_p.Y1562N|PLCH1_ENST00000334686.6_Missense_Mutation_p.Y1524N|PLCH1_ENST00000447496.2_3'UTR Q4KWH8 PLCH1_HUMAN phospholipase C, eta 1 1562 lipid catabolic process|phosphatidylinositol-mediated signaling membrane calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4) 107 Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114) TGCTTTGAATATAGCACTTGG 0.517000 8 111 0 0 1 0 0 TUBGCP6 85378 broad.mit.edu 37 22 50664341 50664341 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr22:50664341G>A ENST00000439308.2 - 10 2357 c.1865C>T c.(1864-1866)cCc>cTc p.P622L TUBGCP6_ENST00000248846.5_Missense_Mutation_p.P622L|TUBGCP6_ENST00000491449.1_5'UTR NM_020461.3 NP_065194.2 Q96RT7 GCP6_HUMAN tubulin, gamma complex associated protein 6 622 G2/M transition of mitotic cell cycle|microtubule nucleation centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole microtubule binding breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2) 45 all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21) CGAGATCCGGGGGACAGGGAC 0.597000 7 85 0 0 1 0 0 DPP3 10072 broad.mit.edu 37 11 66272236 66272236 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:66272236C>T ENST00000532677.1 + 17 2490 c.2089C>T c.(2089-2091)Cgc>Tgc p.R697C DPP3_ENST00000360510.2_Missense_Mutation_p.R678C|DPP3_ENST00000541961.1_Missense_Mutation_p.R678C|DPP3_ENST00000530165.1_Missense_Mutation_p.R648C|DPP3_ENST00000531863.1_Missense_Mutation_p.R698C|DPP3_ENST00000453114.1_Missense_Mutation_p.R678C NM_001256670.1|NM_005700.4|NM_130443.3 NP_001243599.1|NP_005691.2|NP_569710.2 Q9NY33 DPP3_HUMAN dipeptidyl-peptidase 3 678 I -> Y (in Ref. 4; BAA75785). proteolysis cytoplasm aminopeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1) 23 GCCCAACACTCGCCTTGAAGG 0.567000 6 118 0 0 1 0 0 ZFYVE20 64145 broad.mit.edu 37 3 15117211 15117211 + Silent SNP A A G TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:15117211A>G ENST00000253699.3 - 13 1721 c.1108T>C c.(1108-1110)Ttg>Ctg p.L370L ZFYVE20_ENST00000476527.2_Silent_p.L370L NM_022340.2 NP_071735.2 Q9H1K0 RBNS5_HUMAN zinc finger, FYVE domain containing 20 370 Necessary for the interaction with EHD1.|Necessary for the interaction with RAB4A. blood coagulation|endosome transport|protein transport early endosome membrane|plasma membrane protein binding|zinc ion binding NS(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|skin(3)|stomach(1)|urinary_tract(2) 26 AAACCAAGCAACTTTTCCTGC 0.438000 34 90 0 0 1 0 0 CYFIP2 26999 broad.mit.edu 37 5 156768152 156768152 + Missense_Mutation SNP T T G TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:156768152T>G ENST00000347377.6 + 23 3091 c.2660T>G c.(2659-2661)cTc>cGc p.L887R CYFIP2_ENST00000435847.2_Missense_Mutation_p.L586R|CYFIP2_ENST00000442283.2_Silent_p.P171P|CYFIP2_ENST00000522463.1_Missense_Mutation_p.L691R|CYFIP2_ENST00000377576.3_Missense_Mutation_p.L887R|CYFIP2_ENST00000318218.6_Missense_Mutation_p.L912R|CYFIP2_ENST00000521420.1_Missense_Mutation_p.L861R|CYFIP2_ENST00000541131.1_Missense_Mutation_p.L812R NM_001037332.2 NP_001032409.2 Q96F07 CYFP2_HUMAN cytoplasmic FMR1 interacting protein 2 912 apoptosis|cell-cell adhesion cell junction|perinuclear region of cytoplasm|synapse|synaptosome protein binding breast(1)|endometrium(12)|kidney(2)|lung(23) 38 Renal(175;0.00212) Medulloblastoma(196;0.0306)|all_neural(177;0.0897) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) CCTTATTACCTCTATGGATCC 0.453000 26 58 0 0 1 0 0 F2 2147 broad.mit.edu 37 11 46745058 46745058 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:46745058C>T ENST00000311907.5 + 6 605 c.549C>T c.(547-549)atC>atT p.I183I F2_ENST00000530231.1_Silent_p.I183I NM_000506.3 NP_000497.1 P00734 THRB_HUMAN coagulation factor II (thrombin) 183 Kringle 1. I -> T (in Ref. 9; AA sequence). activation of caspase activity|acute-phase response|blood coagulation, intrinsic pathway|cell surface receptor linked signaling pathway|cytosolic calcium ion homeostasis|fibrinolysis|leukocyte migration|negative regulation of astrocyte differentiation|negative regulation of fibrinolysis|negative regulation of platelet activation|negative regulation of proteolysis|peptidyl-glutamic acid carboxylation|platelet activation|positive regulation of collagen biosynthetic process|positive regulation of protein phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of release of sequestered calcium ion into cytosol|post-translational protein modification|proteolysis|STAT protein import into nucleus|tyrosine phosphorylation of STAT protein cytosol|endoplasmic reticulum lumen|extracellular space|Golgi lumen|plasma membrane|soluble fraction calcium ion binding|growth factor activity|serine-type endopeptidase activity|thrombospondin receptor activity endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1) 27 all_lung(304;0.000414)|Lung NSC(402;0.0011) BRCA - Breast invasive adenocarcinoma(625;0.146) Antihemophilic Factor(DB00025)|Argatroban(DB00278)|Bivalirudin(DB00006)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)|Enoxaparin(DB01225)|Heparin(DB01109)|Lepirudin(DB00001)|Menadione(DB00170)|Proflavine(DB01123)|Simvastatin(DB00641)|Suramin(DB04786)|Warfarin(DB00682)|Ximelagatran(DB04898) AATGCAGCATCCCTGTCTGTG 0.642000 12 19 0 0 1 0 0 DLG3 1741 broad.mit.edu 37 X 69670617 69670617 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chrX:69670617C>T ENST00000194900.4 + 7 1364 c.1023C>T c.(1021-1023)ccC>ccT p.P341P DLG3_ENST00000374360.3_Silent_p.P323P Q92796 DLG3_HUMAN discs, large homolog 3 (Drosophila) 323 axon guidance|negative regulation of cell proliferation|synaptic transmission plasma membrane guanylate kinase activity endometrium(4)|kidney(1)|large_intestine(10)|lung(5)|pancreas(1)|urinary_tract(1) 22 Renal(35;0.156) TGTACGCTCCCCCTGACTACG 0.542000 18 16 0 0 1 0 0 PUS7 54517 broad.mit.edu 37 7 105122873 105122873 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:105122873C>T ENST00000356362.2 - 8 1149 c.935G>A c.(934-936)aGa>aAa p.R312K PUS7_ENST00000469408.1_Missense_Mutation_p.R312K NM_019042.3 NP_061915.2 Q96PZ0 PUS7_HUMAN pseudouridylate synthase 7 homolog (S. cerevisiae) 312 pseudouridine synthesis|tRNA processing pseudouridine synthase activity|RNA binding breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(8)|pancreas(1)|skin(1) 23 GTGGGCAAGTCTTTGTGCAGT 0.358000 39 231 0 0 1 0 0 CLVS1 157807 broad.mit.edu 37 8 62212764 62212764 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:62212764C>T ENST00000519846.1 + 3 850 c.378C>T c.(376-378)ttC>ttT p.F126F CLVS1_ENST00000325897.4_Silent_p.F126F|RP11-787D18.1_ENST00000518064.1_RNA|CLVS1_ENST00000518592.1_Intron Q8IUQ0 CLVS1_HUMAN clavesin 1 126 CRAL-TRIO. lysosome organization clathrin-coated vesicle|early endosome membrane|trans-Golgi network phosphatidylinositol-3,5-bisphosphate binding|transporter activity endometrium(3)|kidney(4)|large_intestine(4)|lung(21)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 41 TCGATGGGTTCCCCGGGGTGC 0.483000 20 74 0 0 1 0 0 FAM83G 644815 broad.mit.edu 37 17 18907227 18907227 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:18907227C>T ENST00000388995.6 - 2 351 c.128G>A c.(127-129)cGg>cAg p.R43Q SLC5A10_ENST00000317977.6_Intron|SLC5A10_ENST00000395647.2_Intron|SLC5A10_ENST00000395645.3_Intron|SLC5A10_ENST00000395643.2_Intron|SLC5A10_ENST00000417251.2_Intron|FAM83G_ENST00000345041.4_Missense_Mutation_p.R43Q|SLC5A10_ENST00000395642.1_Intron|FAM83G_ENST00000585154.2_Missense_Mutation_p.R43Q A6ND36 FA83G_HUMAN family with sequence similarity 83, member G 43 central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(3)|stomach(1) 22 GAAGGCGTCCCGGCCGCGGGC 0.642000 34 78 0 0 1 0 0 ZEB1 6935 broad.mit.edu 37 10 31750013 31750013 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:31750013G>A ENST00000446923.2 + 2 446 c.55G>A c.(55-57)Gaa>Aaa p.E19K ZEB1_ENST00000320985.10_Missense_Mutation_p.E36K|ZEB1_ENST00000560721.2_Missense_Mutation_p.E36K|ZEB1_ENST00000361642.5_Missense_Mutation_p.E36K|ZEB1_ENST00000542815.3_Intron|ZEB1_ENST00000559858.1_3'UTR NM_001128128.2|NM_001174094.1 NP_001121600.1|NP_001167565.1 P37275 ZEB1_HUMAN zinc finger E-box binding homeobox 1 36 cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation cytoplasm E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4) 77 Prostate(175;0.0156) TTCAGATGATGAAGACAAACT 0.363000 16 57 0 0 1 0 0 FITM1 161247 broad.mit.edu 37 14 24601864 24601864 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr14:24601864C>T ENST00000267426.5 + 2 1000 c.711C>T c.(709-711)ctC>ctT p.L237L FITM1_ENST00000559294.1_Silent_p.L41L NM_203402.2 NP_981947.1 A5D6W6 FITM1_HUMAN fat storage-inducing transmembrane protein 1 237 lipid particle organization|positive regulation of sequestering of triglyceride endoplasmic reticulum membrane|integral to membrane breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1) 11 TCTTGCTGCTCTGTACCGTCA 0.602000 55 105 0 0 1 0 0 TMEM11 8834 broad.mit.edu 37 17 21101932 21101932 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:21101932G>A ENST00000317635.5 - 2 755 c.284C>T c.(283-285)aCc>aTc p.T95I TMEM11_ENST00000584432.1_5'UTR NM_003876.2 NP_003867.1 P17152 TMM11_HUMAN transmembrane protein 11 95 mitochondrion organization integral to mitochondrial inner membrane|integral to plasma membrane protein binding endometrium(1)|large_intestine(1)|lung(2)|prostate(1) 5 CGCCAACGGGGTGAAGAGGCA 0.627000 17 48 0 0 1 0 0 ITGA6 3655 broad.mit.edu 37 2 173338915 173338915 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:173338915C>T ENST00000375221.2 + 7 1228 c.1025C>T c.(1024-1026)cCt>cTt p.P342L ITGA6_ENST00000409532.1_Missense_Mutation_p.P184L|ITGA6_ENST00000343713.4_Missense_Mutation_p.P298L|ITGA6_ENST00000264106.6_Missense_Mutation_p.P342L|ITGA6_ENST00000409080.1_Missense_Mutation_p.P303L|ITGA6_ENST00000264107.7_Missense_Mutation_p.P303L P23229 ITA6_HUMAN integrin, alpha 6 342 blood coagulation|cell adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|positive regulation of apoptosis|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter integrin complex protein binding|receptor activity NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 44 OV - Ovarian serous cystadenocarcinoma(117;0.0979) CATCTCCTCCCTGAGCACATA 0.488000 4 93 0 0 1 0 0 SPEN 23013 broad.mit.edu 37 1 16259967 16259967 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:16259967C>T ENST00000375759.3 + 11 7436 c.7232C>T c.(7231-7233)tCg>tTg p.S2411L NM_015001.2 NP_055816.2 Q96T58 MINT_HUMAN spen family transcriptional repressor 2411 Interaction with MSX2 (By similarity).|RID. interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway nucleus nucleotide binding|protein binding|RNA binding NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1) 149 Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681) ACAGAGAATTCGTCCCAAGAA 0.547000 27 47 0 0 1 0 0 VPS13B 157680 broad.mit.edu 37 8 100654152 100654152 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:100654152C>T ENST00000358544.2 + 34 5520 c.5409C>T c.(5407-5409)atC>atT p.I1803I VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Silent_p.I1778I NM_017890.4 NP_060360.3 Q7Z7G8 VP13B_HUMAN vacuolar protein sorting 13 homolog B (yeast) 1803 protein transport NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9) 193 Breast(36;3.73e-07) OV - Ovarian serous cystadenocarcinoma(57;0.00636) GTGTTAAAATCAGAATAGTGC 0.433000 36 80 0 0 1 0 0 CD19 930 broad.mit.edu 37 16 28950207 28950207 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr16:28950207G>A ENST00000538922.1 + 14 1659 c.1597G>A c.(1597-1599)Gag>Aag p.E533K CD19_ENST00000324662.3_Missense_Mutation_p.E532K|CD19_ENST00000567541.1_Missense_Mutation_p.E533K NM_001178098.1|NM_001770.5 NP_001171569.1|NP_001761.3 P15391 CD19_HUMAN CD19 molecule 532 cellular defense response external side of plasma membrane|integral to plasma membrane protein binding|receptor signaling protein activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(4)|urinary_tract(1) 29 AGACTCTTATGAGAACATGGA 0.612000 6 7 0 0 1 0 0 TMPRSS11D 9407 broad.mit.edu 37 4 68691467 68691467 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:68691467C>T ENST00000283916.6 - 9 1176 c.1078G>A c.(1078-1080)Gga>Aga p.G360R RP11-453E17.1_ENST00000500538.2_RNA|TMPRSS11D_ENST00000545541.1_Missense_Mutation_p.G243R NM_004262.2 NP_004253.1 O60235 TM11D_HUMAN transmembrane protease, serine 11D 360 Peptidase S1. proteolysis|respiratory gaseous exchange extracellular region|integral to plasma membrane serine-type endopeptidase activity cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 23 GCGTCCACTCCACCTTGAGGT 0.408000 19 49 0 0 1 0 0 DNAH11 8701 broad.mit.edu 37 7 21657263 21657263 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:21657263C>T ENST00000328843.6 + 23 4168 c.4137C>T c.(4135-4137)gtC>gtT p.V1379V DNAH11_ENST00000409508.3_Silent_p.V1374V Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 1379 Stem (By similarity). microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 230 ACAAGGAAGTCCGCGTCTGGG 0.473000 Kartagener syndrome 10 36 0 0 1 0 0 SLA2 84174 broad.mit.edu 37 20 35262954 35262954 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr20:35262954G>A ENST00000262866.4 - 3 552 c.130C>T c.(130-132)Ccg>Tcg p.P44S SLA2_ENST00000360672.2_Missense_Mutation_p.P44S NM_032214.3|NM_175077.2 NP_115590.1|NP_778252.1 Q9H6Q3 SLAP2_HUMAN Src-like-adaptor 2 44 SH3. antigen receptor-mediated signaling pathway|B cell mediated immunity|intracellular receptor mediated signaling pathway|negative regulation of B cell activation|negative regulation of calcium-mediated signaling|negative regulation of transcription from RNA polymerase II promoter|T cell activation cytoplasmic membrane-bounded vesicle|endosome membrane|plasma membrane protein N-terminus binding|SH3/SH2 adaptor activity endometrium(1)|lung(2)|skin(2) 5 Breast(12;0.114) Myeloproliferative disorder(115;0.00878) CCACCTGCCGGGAAACTGCCC 0.572000 22 51 0 0 1 0 0 ZNF502 91392 broad.mit.edu 37 3 44763153 44763153 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:44763153C>T ENST00000296091.4 + 4 1100 c.844C>T c.(844-846)Ctt>Ttt p.L282F ZNF502_ENST00000449836.1_Missense_Mutation_p.L282F|ZNF502_ENST00000436624.2_Missense_Mutation_p.L282F NM_001134440.1|NM_033210.4 NP_001127912.1|NP_149987.2 Q8TBZ5 ZN502_HUMAN zinc finger protein 502 282 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|endometrium(4)|large_intestine(8)|lung(4)|prostate(1)|urinary_tract(1) 19 BRCA - Breast invasive adenocarcinoma(193;0.00855)|KIRC - Kidney renal clear cell carcinoma(197;0.0471)|Kidney(197;0.0589) GAATACACACCTTATTCATCA 0.413000 14 365 0 0 1 0 0 ST18 9705 broad.mit.edu 37 8 53084687 53084687 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:53084687G>A ENST00000276480.7 - 10 1417 c.734C>T c.(733-735)cCt>cTt p.P245L NM_014682.2 NP_055497.1 O60284 ST18_HUMAN suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein) 245 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 85 Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229) GTTCTCACAAGGGATAAATTT 0.433000 7 116 0 0 1 0 0 LRFN2 57497 broad.mit.edu 37 6 40400607 40400607 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:40400607G>A ENST00000338305.6 - 2 788 c.246C>T c.(244-246)acC>acT p.T82T NM_020737.1 NP_065788.1 Q9ULH4 LRFN2_HUMAN leucine rich repeat and fibronectin type III domain containing 2 82 cell junction|integral to membrane|postsynaptic membrane breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 58 Ovarian(28;0.0418)|Colorectal(47;0.196) TCCTGGACAGGGTCAGGTCCA 0.597000 22 73 0 0 1 0 0 OR5V1 81696 broad.mit.edu 37 6 29323340 29323340 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:29323340G>A ENST00000377154.1 - 4 932 c.633C>T c.(631-633)ttC>ttT p.F211F OR5V1_ENST00000543825.1_Silent_p.F211F Q9UGF6 OR5V1_HUMAN olfactory receptor, family 5, subfamily V, member 1 211 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|kidney(3)|large_intestine(3)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 CGATACAAAGGAAAGGAGTCC 0.478000 82 76 0 0 1 0 0 PAPPA2 60676 broad.mit.edu 37 1 176668626 176668626 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:176668626C>T ENST00000367662.3 + 8 4301 c.3137C>T c.(3136-3138)tCt>tTt p.S1046F NM_020318.2 NP_064714.2 Q9BXP8 PAPP2_HUMAN pappalysin 2 1046 cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1) 226 CCCTTGTGCTCTGGCTGCAGG 0.562000 53 172 0 0 1 0 0 ACACB 32 broad.mit.edu 37 12 109577297 109577297 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:109577297C>T ENST00000338432.7 + 2 206 c.87C>T c.(85-87)tcC>tcT p.S29S ACACB_ENST00000377848.3_Silent_p.S29S|ACACB_ENST00000377854.5_Silent_p.S29S O00763 ACACB_HUMAN acetyl-CoA carboxylase beta 29 acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation cytosol|endomembrane system|Golgi apparatus|membrane acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 Biotin(DB00121) TGACGGACTCCAAGCCGATCA 0.473000 37 131 0 0 1 0 0 BBX 56987 broad.mit.edu 37 3 107492087 107492087 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:107492087C>T ENST00000415149.2 + 11 1846 c.1519C>T c.(1519-1521)Cct>Tct p.P507S BBX_ENST00000402543.1_Missense_Mutation_p.P507S|BBX_ENST00000325805.8_Missense_Mutation_p.P507S|BBX_ENST00000416476.2_Intron|BBX_ENST00000406780.1_Missense_Mutation_p.P507S NM_001142568.1|NM_020235.5 NP_001136040.1|NP_064620.2 Q8WY36 BBX_HUMAN bobby sox homolog (Drosophila) 507 Lys-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding breast(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(18)|ovary(4)|pancreas(1)|skin(2) 49 OV - Ovarian serous cystadenocarcinoma(3;0.112) TGGAGATACCCCTCGCAAGAA 0.453000 52 82 0 0 1 0 0 DMBT1 1755 broad.mit.edu 37 10 124348579 124348579 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:124348579G>A ENST00000338354.3 + 17 2009 c.1903G>A c.(1903-1905)Gat>Aat p.D635N DMBT1_ENST00000368955.3_Missense_Mutation_p.D625N|DMBT1_ENST00000344338.3_Missense_Mutation_p.D625N|DMBT1_ENST00000359586.6_Intron|DMBT1_ENST00000368909.3_Missense_Mutation_p.D635N|DMBT1_ENST00000330163.4_Intron|DMBT1_ENST00000368956.2_Intron Q9UGM3 DMBT1_HUMAN deleted in malignant brain tumors 1 635 SRCR 5. epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3) 72 all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238) GGACACCAATGATGCCAATGT 0.612000 61 571 0 0 1 0 0 SAG 6295 broad.mit.edu 37 2 234247373 234247373 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:234247373G>A ENST00000409110.1 + 12 1226 c.996G>A c.(994-996)caG>caA p.Q332Q SAG_ENST00000449594.2_Silent_p.Q198Q NM_000541.4 NP_000532.2 P10523 ARRS_HUMAN S-antigen; retina and pineal gland (arrestin) 332 rhodopsin mediated phototransduction|rhodopsin mediated signaling pathway protein phosphatase inhibitor activity cervix(1)|kidney(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1) 9 Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.018)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.054) Epithelial(121;2.86e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00608)|Lung(119;0.00714)|GBM - Glioblastoma multiforme(43;0.207) TGTCTTACCAGATCAAGGTGA 0.532000 50 93 0 0 1 0 0 LRCH1 23143 broad.mit.edu 37 13 47260076 47260076 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr13:47260076C>T ENST00000311191.6 + 5 951 c.722C>T c.(721-723)tCc>tTc p.S241F LRCH1_ENST00000389797.3_Missense_Mutation_p.S241F|LRCH1_ENST00000389798.3_Missense_Mutation_p.S241F NM_001164213.1 NP_001157685.1 Q9Y2L9 LRCH1_HUMAN leucine-rich repeats and calponin homology (CH) domain containing 1 241 breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 26 all_lung(13;5.61e-07)|Lung NSC(96;0.000117)|Breast(56;0.000141)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;0.000123) TTTGACTTTTCCTGCAACAAA 0.348000 17 42 0 0 1 0 0 ASNS 440 broad.mit.edu 37 7 97486014 97486014 + Missense_Mutation SNP G G T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:97486014G>T ENST00000175506.4 - 9 1546 c.1018C>A c.(1018-1020)Cgt>Agt p.R340S ASNS_ENST00000394309.3_Missense_Mutation_p.R340S|ASNS_ENST00000444334.1_Missense_Mutation_p.R319S|ASNS_ENST00000455086.1_Missense_Mutation_p.R257S|ASNS_ENST00000422745.1_Missense_Mutation_p.R319S|ASNS_ENST00000394308.3_Missense_Mutation_p.R340S|ASNS_ENST00000437628.1_Missense_Mutation_p.R257S NM_183356.3 NP_899199.2 P08243 ASNS_HUMAN asparagine synthetase (glutamine-hydrolyzing) 340 Asparagine synthetase. TYDITTVRASV -> LMTLQQFVLRI (in Ref. 8; AAA36781). cellular response to glucose starvation|glutamine metabolic process|negative regulation of apoptosis|positive regulation of mitotic cell cycle cytosol|soluble fraction asparagine synthase (glutamine-hydrolyzing) activity|ATP binding ovary(1) 1 all_cancers(62;6.64e-09)|all_epithelial(64;1.58e-09)|Esophageal squamous(72;0.00448)|Lung NSC(181;0.0342)|all_lung(186;0.0369) Adenosine triphosphate(DB00171)|L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)|L-Glutamine(DB00130) ACTGAAGCACGAACTGTTGTA 0.303000 40 153 8.16277e-20 8.24467e-20 1 1 0 CACNA1C 775 broad.mit.edu 37 12 2676878 2676878 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:2676878C>T ENST00000399655.1 + 13 2078 c.1813C>T c.(1813-1815)Ctg>Ttg p.L605L CACNA1C_ENST00000399644.1_Silent_p.L605L|CACNA1C_ENST00000399638.1_Silent_p.L605L|CACNA1C_ENST00000406454.3_Silent_p.L605L|CACNA1C_ENST00000399621.1_Silent_p.L605L|CACNA1C_ENST00000480911.1_Silent_p.L605L|CACNA1C_ENST00000335762.5_Silent_p.L630L|CACNA1C_ENST00000399601.1_Silent_p.L605L|CACNA1C_ENST00000399641.1_Silent_p.L605L|CACNA1C_ENST00000399591.1_Silent_p.L605L|CACNA1C_ENST00000399603.1_Silent_p.L605L|CACNA1C_ENST00000327702.7_Silent_p.L605L|CACNA1C_ENST00000399629.1_Silent_p.L605L|CACNA1C_ENST00000399637.1_Silent_p.L605L|CACNA1C_ENST00000344100.3_Silent_p.L605L|CACNA1C_ENST00000399597.1_Silent_p.L605L|CACNA1C_ENST00000399617.1_Silent_p.L605L|CACNA1C_ENST00000402845.3_Silent_p.L605L|CACNA1C_ENST00000399649.1_Silent_p.L605L|CACNA1C_ENST00000399595.1_Silent_p.L605L|CACNA1C_ENST00000399634.1_Silent_p.L605L|CACNA1C_ENST00000347598.4_Silent_p.L605L|CACNA1C_ENST00000399606.1_Silent_p.L605L NM_000719.6|NM_001129829.1|NM_001129834.1 NP_000710.5|NP_001123301.1|NP_001123306.1 Q13936 CAC1C_HUMAN calcium channel, voltage-dependent, L type, alpha 1C subunit 605 axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion cytoplasm|postsynaptic density|voltage-gated calcium channel complex calmodulin binding|voltage-gated calcium channel activity NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4) 132 OV - Ovarian serous cystadenocarcinoma(31;0.00256) LUAD - Lung adenocarcinoma(1;0.134) Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661) GGAGACCATCCTGGTGGAGAC 0.587000 12 20 0 0 1 0 0 OPCML 4978 broad.mit.edu 37 11 132306008 132306008 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:132306008C>T ENST00000331898.7 - 6 1487 c.909G>A c.(907-909)ggG>ggA p.G303G OPCML_ENST00000529038.1_5'UTR|OPCML_ENST00000541867.1_Silent_p.G303G|OPCML_ENST00000374778.4_Silent_p.G262G|OPCML_ENST00000524381.1_Silent_p.G296G NM_002545.3 NP_002536.1 Q14982 OPCM_HUMAN opioid binding protein/cell adhesion molecule-like 303 Ig-like C2-type 3. cell adhesion|neuron recognition anchored to membrane|integral to plasma membrane opioid receptor activity endometrium(5)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|skin(2)|urinary_tract(8) 47 all_hematologic(175;0.019) all_cancers(12;5.86e-24)|all_epithelial(12;2.65e-17)|all_lung(97;2.89e-05)|Lung NSC(97;6.16e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0269)|all_neural(223;0.0326)|Esophageal squamous(93;0.129) all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012) CATTGGTGTTCCCAAGCTTGT 0.498000 26 28 0 0 1 0 0 NRG1 3084 broad.mit.edu 37 8 32505395 32505395 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:32505395C>T ENST00000520502.2 + 1 159 c.159C>T c.(157-159)ggC>ggT p.G53G NRG1_ENST00000341377.5_Intron|NRG1_ENST00000521670.1_Intron|NRG1_ENST00000338921.4_Intron|NRG1_ENST00000519301.1_Intron|NRG1_ENST00000523079.1_Intron|NRG1_ENST00000356819.4_Intron|NRG1_ENST00000287842.3_Intron|NRG1_ENST00000287845.5_Intron|NRG1_ENST00000405005.2_Intron|NRG1_ENST00000520407.1_Intron|NRG1_ENST00000287840.5_Intron NM_013959.3 NP_039253.1 Q02297 NRG1_HUMAN neuregulin 1 0 Ig-like C2-type. activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|Notch signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane cytokine activity|ErbB-3 class receptor binding|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1) 39 Breast(100;0.203) KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943) GACTCGTGGGCCTGGCCGTGC 0.597000 4 103 0 0 1 0 0 CYLC2 1539 broad.mit.edu 37 9 105767265 105767265 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:105767265G>A ENST00000374798.3 + 5 422 c.352G>A c.(352-354)Ggt>Agt p.G118S CYLC2_ENST00000487798.1_Missense_Mutation_p.G118S NM_001340.3 NP_001331.1 Q14093 CYLC2_HUMAN cylicin, basic protein of sperm head cytoskeleton 2 118 31 X 3 AA repeats of K-K-X. cell differentiation|multicellular organismal development|spermatogenesis cytoskeletal calyx structural constituent of cytoskeleton NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(2) 41 all_hematologic(171;0.125) TGGTAAGAAAGGTGAAGACAA 0.299000 25 70 0 0 1 0 0 KIF21A 55605 broad.mit.edu 37 12 39726474 39726474 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:39726474G>A ENST00000395670.3 - 20 3194 c.2775C>T c.(2773-2775)ctC>ctT p.L925L KIF21A_ENST00000361418.5_Silent_p.L925L|KIF21A_ENST00000541463.2_Silent_p.L889L|KIF21A_ENST00000544797.2_Silent_p.L912L|KIF21A_ENST00000361961.3_Silent_p.L912L Q7Z4S6 KI21A_HUMAN kinesin family member 21A 925 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2) 86 Lung NSC(34;0.179)|all_lung(34;0.213) TGCGCTCAAGGAGCTGCCACT 0.428000 46 104 0 0 1 0 0 SPATA16 83893 broad.mit.edu 37 3 172634134 172634134 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:172634134C>T ENST00000351008.3 - 9 1659 c.1476G>A c.(1474-1476)caG>caA p.Q492Q NM_031955.5 NP_114161.3 Q9BXB7 SPT16_HUMAN spermatogenesis associated 16 492 cell differentiation|multicellular organismal development|spermatogenesis Golgi apparatus binding p.Q492Q(1) breast(2)|cervix(1)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 43 Ovarian(172;0.00319)|Breast(254;0.197) LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14) GACTGATGTCCTGTAGGTAGG 0.463000 94 185 0 0 1 0 0 SLC35F4 341880 broad.mit.edu 37 14 58048150 58048150 + Splice_Site SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr14:58048150C>T ENST00000556826.1 - 4 825 c.587_splice c.e4-1 p.E197_splice SLC35F4_ENST00000339762.6_Splice_Site_p.E233_splice|SLC35F4_ENST00000554729.1_Splice_Site_p.E74_splice NM_001206920.1 NP_001193849.1 solute carrier family 35, member F4 breast(1)|endometrium(4)|large_intestine(3)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 CGACTGCATTCCCTAGGAAAG 0.398000 9 13 0 0 1 0 0 ACTRT2 140625 broad.mit.edu 37 1 2939225 2939225 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:2939225G>A ENST00000378404.2 + 1 1180 c.975G>A c.(973-975)aaG>aaA p.K325K NM_080431.4 NP_536356.3 Q8TDY3 ACTT2_HUMAN actin-related protein T2 325 cytoplasm|cytoskeleton breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 26 all_cancers(77;0.00205)|all_epithelial(69;0.0011)|Ovarian(185;0.0634)|Lung NSC(156;0.0893)|all_lung(157;0.0909) all_epithelial(116;2.66e-20)|all_lung(118;1.56e-08)|Lung NSC(185;2.54e-06)|Breast(487;0.00156)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123) Epithelial(90;7.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.15e-22)|GBM - Glioblastoma multiforme(42;1.1e-12)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000329)|BRCA - Breast invasive adenocarcinoma(365;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.125) TGGCCTCCAAGGACACCCCCA 0.602000 6 163 0 0 1 0 0 ZNF317 57693 broad.mit.edu 37 19 9270837 9270837 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:9270837C>T ENST00000247956.6 + 7 821 c.516C>T c.(514-516)ttC>ttT p.F172F ZNF317_ENST00000360385.3_Silent_p.F140F NM_020933.4 NP_065984.3 Q96PQ6 ZN317_HUMAN zinc finger protein 317 172 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3) 27 CTCACTTGTTCGAAGTCTTTG 0.517000 13 53 0 0 1 0 0 SLC8A3 6547 broad.mit.edu 37 14 70634274 70634274 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr14:70634274C>T ENST00000381269.2 - 2 1619 c.866G>A c.(865-867)gGg>gAg p.G289E SLC8A3_ENST00000357887.3_Missense_Mutation_p.G289E|SLC8A3_ENST00000356921.2_Missense_Mutation_p.G289E|SLC8A3_ENST00000528359.1_Missense_Mutation_p.G289E|SLC8A3_ENST00000534137.1_Missense_Mutation_p.G289E NM_058240.2|NM_183002.1 NP_489479.1|NP_892114.1 P57103 NAC3_HUMAN solute carrier family 8 (sodium/calcium exchanger), member 3 289 cell communication|platelet activation integral to membrane|plasma membrane calcium:sodium antiporter activity|calmodulin binding NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6) 54 BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555) CATCATTTTCCCATCCATCTC 0.473000 25 79 0 0 1 0 0 ANK3 288 broad.mit.edu 37 10 62149262 62149262 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:62149262C>T ENST00000280772.1 - 1 226 c.35G>A c.(34-36)aGg>aAg p.R12K ANK3_ENST00000503366.1_Intron|ANK3_ENST00000373827.2_Intron NM_020987.3 NP_066267.2 Q12955 ANK3_HUMAN ankyrin 3, node of Ranvier (ankyrin G) 12 establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 196 TTCTAAATCCCTGTTTTTCTT 0.428000 38 105 0 0 1 0 0 SPTA1 6708 broad.mit.edu 37 1 158581100 158581100 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:158581100G>A ENST00000368148.3 - 52 7394 c.7214C>T c.(7213-7215)tCt>tTt p.S2405F SPTA1_ENST00000368147.3_Missense_Mutation_p.S2402F NM_003126.2 NP_003117.2 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 (elliptocytosis 2) 2405 GRSHLSGYDYVGFTNSYFGN -> VEAISLAMTTLASPIPT LATNKQLLVDRRKS (in Ref. 1; AAA60577/ AAA60994). actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6) 307 all_hematologic(112;0.0378) GTCATAGCCAGAGAGATGGCT 0.458000 7 95 0 0 1 0 0 PCLO 27445 broad.mit.edu 37 7 82545710 82545710 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:82545710G>A ENST00000423517.2 - 7 11929 c.11592C>T c.(11590-11592)ttC>ttT p.F3864F PCLO_ENST00000333891.8_Silent_p.F3864F|PCLO_ENST00000437081.1_Silent_p.F584F NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 3795 Gln-rich. cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 TAAACTGGCTGAATTCAGTTT 0.468000 179 397 0 0 1 0 0 ANK3 288 broad.mit.edu 37 10 61829005 61829005 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:61829005C>T ENST00000280772.1 - 37 11825 c.11634G>A c.(11632-11634)ccG>ccA p.P3878P ANK3_ENST00000355288.2_Intron|ANK3_ENST00000503366.1_Intron|ANK3_ENST00000373827.2_Intron NM_020987.3 NP_066267.2 Q12955 ANK3_HUMAN ankyrin 3, node of Ranvier (ankyrin G) 3878 establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 196 ACATATGGTTCGGTGGGAAGG 0.388000 114 273 0 0 1 0 0 PEG3 5178 broad.mit.edu 37 19 57328102 57328102 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:57328102C>T ENST00000326441.9 - 10 2071 c.1708G>A c.(1708-1710)Gaa>Aaa p.E570K ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000601070.1_Intron|PEG3_ENST00000593695.1_Missense_Mutation_p.E444K|PEG3_ENST00000598410.1_Missense_Mutation_p.E446K|PEG3_ENST00000423103.2_Missense_Mutation_p.E570K|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000593711.1_Intron NM_006210.2 NP_006201.1 Q9GZU2 PEG3_HUMAN paternally expressed 3 570 apoptosis|viral reproduction cytoplasm|nucleus nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6) 170 Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0269) AGGAAGGTTTCCTTACACACC 0.448000 48 85 0 0 1 0 0 SF3B2 10992 broad.mit.edu 37 11 65822558 65822558 + Silent SNP T T A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:65822558T>A ENST00000528302.1 + 4 324 c.270T>A c.(268-270)atT>atA p.I90I SF3B2_ENST00000322535.6_Silent_p.I90I Q13435 SF3B2_HUMAN splicing factor 3b, subunit 2, 145kDa 90 interspecies interaction between organisms catalytic step 2 spliceosome|nucleoplasm|U12-type spliceosomal complex nucleic acid binding|protein binding breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 41 TCCCTGGAATTCCCATGCCAC 0.542000 58 136 0 0 1 0 0 NIPAL1 152519 broad.mit.edu 37 4 48037641 48037641 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:48037641C>T ENST00000295461.5 + 6 751 c.685C>T c.(685-687)Ccc>Tcc p.P229S NM_207330.1 NP_997213.1 Q6NVV3 NIPA3_HUMAN NIPA-like domain containing 1 229 integral to membrane endometrium(2)|large_intestine(1)|lung(3)|skin(2) 8 GATTGTGGCTCCCAAGAAAGG 0.378000 75 125 0 0 1 0 0 SCML2 10389 broad.mit.edu 37 X 18348721 18348721 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chrX:18348721G>A ENST00000251900.4 - 3 236 c.77C>T c.(76-78)tCt>tTt p.S26F NM_006089.2 NP_006080.1 Q9UQR0 SCML2_HUMAN sex comb on midleg-like 2 (Drosophila) 26 anatomical structure morphogenesis PcG protein complex DNA binding|sequence-specific DNA binding transcription factor activity breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 36 Hepatocellular(33;0.183) TTGTACAGAAGATGTACTTGA 0.328000 41 15 0 0 1 0 0 XPNPEP2 7512 broad.mit.edu 37 X 128901613 128901613 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chrX:128901613C>T ENST00000371106.3 + 20 1967 c.1775C>T c.(1774-1776)tCa>tTa p.S592L NM_003399.5 NP_003390.4 O43895 XPP2_HUMAN X-prolyl aminopeptidase (aminopeptidase P) 2, membrane-bound 592 cellular process|proteolysis anchored to membrane|plasma membrane aminopeptidase activity|metal ion binding|metalloexopeptidase activity endometrium(3)|kidney(3)|large_intestine(5)|liver(1)|lung(20)|prostate(1)|skin(1)|upper_aerodigestive_tract(3) 37 GAAGTGGTATCATTTGTGCCC 0.577000 68 32 0 0 1 0 0 WDR47 22911 broad.mit.edu 37 1 109553608 109553608 + Nonsense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:109553608G>A ENST00000357672.3 - 4 1351 c.976C>T c.(976-978)Caa>Taa p.Q326* WDR47_ENST00000369962.3_Nonsense_Mutation_p.Q354*|WDR47_ENST00000361054.3_Nonsense_Mutation_p.Q326*|WDR47_ENST00000369965.4_Nonsense_Mutation_p.Q354*|WDR47_ENST00000400794.3_Nonsense_Mutation_p.Q361* O94967 WDR47_HUMAN WD repeat domain 47 354 breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 20 all_lung(203;0.00519)|all_epithelial(167;0.00611)|Lung NSC(277;0.00822) Colorectal(144;0.0165)|Lung(183;0.0484)|COAD - Colon adenocarcinoma(174;0.128)|Epithelial(280;0.168)|all cancers(265;0.201)|LUSC - Lung squamous cell carcinoma(189;0.244) CTGAGGTTTTGTACCCCTGGA 0.393000 70 226 0 0 1 0 0 KRT72 140807 broad.mit.edu 37 12 52981423 52981423 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:52981423C>T ENST00000293745.2 - 7 1387 c.1302G>A c.(1300-1302)gaG>gaA p.E434E KRT72_ENST00000354310.4_Silent_p.E392E|KRT72_ENST00000537672.2_Silent_p.E434E|KRT72_ENST00000398066.3_Silent_p.E246E NM_080747.2 NP_542785.1 Q14CN4 K2C72_HUMAN keratin 72 434 Coil 2.|Rod. keratin filament structural molecule activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2) 36 BRCA - Breast invasive adenocarcinoma(357;0.195) ACCTGCACTCCTCGCTCTCCA 0.582000 36 142 0 0 1 0 0 PRODH2 58510 broad.mit.edu 37 19 36303627 36303627 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:36303627C>T ENST00000301175.3 - 2 326 c.309G>A c.(307-309)ggG>ggA p.G103G NM_021232.1 NP_067055.1 Q9UF12 PROD2_HUMAN proline dehydrogenase (oxidase) 2 103 glutamate biosynthetic process|proline catabolic process proline dehydrogenase activity haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 21 all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) GGTGGAAGGCCCCGCCATCAA 0.652000 18 43 0 0 1 0 0 ZBBX 79740 broad.mit.edu 37 3 166960340 166960340 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:166960340G>A ENST00000392766.2 - 20 2569 c.2229C>T c.(2227-2229)ttC>ttT p.F743F ZBBX_ENST00000392764.1_Silent_p.F714F|ZBBX_ENST00000307529.5_Silent_p.F782F|ZBBX_ENST00000455345.2_Silent_p.F782F|ZBBX_ENST00000392767.2_Silent_p.F743F NM_001199201.1|NM_024687.3 NP_001186130.1|NP_078963.2 A8MT70 ZBBX_HUMAN zinc finger, B-box domain containing 743 intracellular zinc ion binding NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1) 70 AGGTCTTAAGGAAATCTGTGG 0.368000 31 65 0 0 1 0 0 CDK3 1018 broad.mit.edu 37 17 73999327 73999327 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:73999327C>T ENST00000425876.2 + 6 728 c.640C>T c.(640-642)Cgt>Tgt p.R214C TEN1-CDK3_ENST00000567351.1_RNA|CDK3_ENST00000448471.1_Missense_Mutation_p.R214C Q00526 CDK3_HUMAN cyclin-dependent kinase 3 214 Protein kinase. R -> H (in dbSNP:rs34670267). cell division|cell proliferation|mitosis ATP binding|cyclin-dependent protein kinase activity central_nervous_system(1) 1 CCAGCTCTTTCGTATCTTTCG 0.542000 153 431 0 0 1 0 0 MGST1 4257 broad.mit.edu 37 12 16510579 16510579 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:16510579G>A ENST00000535309.1 + 3 206 c.167G>A c.(166-168)gGa>gAa p.G56E MGST1_ENST00000396209.1_Missense_Mutation_p.G56E|MGST1_ENST00000540056.1_Intron|MGST1_ENST00000396210.3_Missense_Mutation_p.G56E|MGST1_ENST00000396207.1_Missense_Mutation_p.G56E|MGST1_ENST00000010404.2_Missense_Mutation_p.G56E NM_001267598.1 NP_001254527.1 P10620 MGST1_HUMAN microsomal glutathione S-transferase 1 56 protein homotrimerization|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane glutathione transferase activity p.G56V(1) endometrium(2)|large_intestine(2)|lung(4)|ovary(1) 9 Hepatocellular(102;0.121) Glutathione(DB00143) TTTGGCAAAGGAGAAAATGCC 0.373000 18 36 0 0 1 0 0 TMEM131 23505 broad.mit.edu 37 2 98409939 98409939 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:98409939G>A ENST00000186436.5 - 30 3692 c.3464C>T c.(3463-3465)tCc>tTc p.S1155F NM_015348.1 NP_056163.1 Q92545 TM131_HUMAN transmembrane protein 131 1155 integral to membrane NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1) 57 GGCCTCAAAGGATAGCCGCCT 0.468000 4 61 0 0 1 0 0 PTPRN2 5799 broad.mit.edu 37 7 157959764 157959764 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:157959764G>A ENST00000389413.3 - 6 872 c.769C>T c.(769-771)Ccc>Tcc p.P257S PTPRN2_ENST00000404321.2_Missense_Mutation_p.P280S|PTPRN2_ENST00000389416.4_Missense_Mutation_p.P240S|PTPRN2_ENST00000409483.1_Missense_Mutation_p.P219S|PTPRN2_ENST00000389418.4_Missense_Mutation_p.P257S NM_130843.2 NP_570858.2 Q92932 PTPR2_HUMAN protein tyrosine phosphatase, receptor type, N polypeptide 2 257 integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1) 86 all_neural(206;0.181) all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132) OV - Ovarian serous cystadenocarcinoma(82;0.00463) STAD - Stomach adenocarcinoma(7;0.0875) TCCCCGGGGGGAGCTGGGGGC 0.657000 13 28 0 0 1 0 0 MYO15A 51168 broad.mit.edu 37 17 18075061 18075061 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:18075061C>T ENST00000205890.5 + 63 10530 c.10192C>T c.(10192-10194)Cac>Tac p.H3398Y MYO15A_ENST00000451725.2_Silent_p.P191P|MYO15A_ENST00000418233.3_Missense_Mutation_p.H662Y NM_016239.3 NP_057323.3 Q9UKN7 MYO15_HUMAN myosin XVA 3398 FERM.|Tail. sensory perception of sound cytoplasm|myosin complex|stereocilium actin binding|ATP binding|calmodulin binding|motor activity breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 99 all_neural(463;0.228) GCTCAGCCCCCACCAGGCCCG 0.637000 25 51 0 0 1 0 0 TMC3 342125 broad.mit.edu 37 15 81638748 81638748 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr15:81638748C>T ENST00000558726.1 - 12 1368 c.1233G>A c.(1231-1233)ctG>ctA p.L411L RP11-761I4.3_ENST00000560851.1_RNA|RP11-761I4.3_ENST00000559781.1_RNA|TMC3_ENST00000359440.5_Silent_p.L410L Q7Z5M5 TMC3_HUMAN transmembrane channel-like 3 410 integral to membrane autonomic_ganglia(2)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 34 GAGCAATGATCAGGCTGTAGA 0.522000 13 19 0 0 1 0 0 TTYH3 80727 broad.mit.edu 37 7 2686498 2686498 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:2686498C>T ENST00000258796.7 + 2 340 c.135C>T c.(133-135)ctC>ctT p.L45L TTYH3_ENST00000407643.1_Silent_p.L45L NM_025250.2 NP_079526.1 Q9C0H2 TTYH3_HUMAN tweety family member 3 45 chloride channel complex|plasma membrane chloride channel activity kidney(1)|large_intestine(3)|lung(9)|prostate(2)|upper_aerodigestive_tract(2) 17 Ovarian(82;0.0112) OV - Ovarian serous cystadenocarcinoma(56;2.04e-14) CCCTGCTGCTCCTGGGGGCCG 0.726000 13 38 0 0 1 0 0 ZFPM2 23414 broad.mit.edu 37 8 106814031 106814031 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:106814031G>A ENST00000407775.2 + 8 1971 c.1721G>A c.(1720-1722)cGa>cAa p.R574Q ZFPM2_ENST00000520492.1_Missense_Mutation_p.R442Q|RP11-152P17.2_ENST00000524045.2_RNA|RP11-152P17.2_ENST00000520594.1_RNA|ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000518932.1_RNA|ZFPM2_ENST00000378472.4_Missense_Mutation_p.R305Q|RP11-152P17.2_ENST00000521622.1_RNA|ZFPM2_ENST00000517361.1_Missense_Mutation_p.R442Q|RP11-152P17.2_ENST00000509144.2_RNA|RP11-152P17.2_ENST00000520433.1_RNA NM_012082.3 NP_036214.2 Q8WW38 FOG2_HUMAN zinc finger protein, FOG family member 2 574 blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis nucleoplasm DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding p.R574Q(1) NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 99 OV - Ovarian serous cystadenocarcinoma(57;8.28e-08) TGCAGCAGCCGATGGCAGCAG 0.448000 92 159 0 0 1 0 0 PAPPA 5069 broad.mit.edu 37 9 118949942 118949942 + Missense_Mutation SNP G G A rs113943017 TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:118949942G>A ENST00000328252.3 + 2 1294 c.925G>A c.(925-927)Gaa>Aaa p.E309K NM_002581.3 NP_002572.2 Q13219 PAPP1_HUMAN pregnancy-associated plasma protein A, pappalysin 1 309 Metalloprotease. cell differentiation|female pregnancy cytoplasm|extracellular region|membrane metalloendopeptidase activity|zinc ion binding NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1) 98 CCCCAAAGTGGAATTCAGCAA 0.567000 34 83 0 0 1 0 0 FNDC3A 22862 broad.mit.edu 37 13 49762724 49762724 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr13:49762724C>T ENST00000492622.2 + 17 2204 c.1899C>T c.(1897-1899)ttC>ttT p.F633F FNDC3A_ENST00000541916.1_Silent_p.F633F|FNDC3A_ENST00000398316.3_Silent_p.F577F NM_001079673.1 NP_001073141.1 Q9Y2H6 FND3A_HUMAN fibronectin type III domain containing 3A 633 Fibronectin type-III 4. Golgi membrane|integral to membrane endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|prostate(5)|skin(2)|urinary_tract(1) 41 all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19) KIRC - Kidney renal clear cell carcinoma(9;0.206) GBM - Glioblastoma multiforme(99;2.94e-09) CAGGCTGTTTCTATCGTTTAC 0.403000 96 215 0 0 1 0 0 DCC 1630 broad.mit.edu 37 18 50278564 50278564 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr18:50278564G>A ENST00000442544.2 + 2 848 c.232G>A c.(232-234)Ggc>Agc p.G78S DCC_ENST00000412726.1_5'UTR NM_005215.3 NP_005206.2 P43146 DCC_HUMAN deleted in colorectal carcinoma 78 Ig-like C2-type 1. apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development cytosol|integral to membrane NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6) 148 all_cancers(7;0.11)|all_epithelial(6;0.00126) Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942) GAAGAAAGATGGCATTCATCT 0.502000 35 54 0 0 1 0 0 SVEP1 79987 broad.mit.edu 37 9 113170491 113170491 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:113170491G>A ENST00000401783.2 - 38 7725 c.7389C>T c.(7387-7389)ctC>ctT p.L2463L SVEP1_ENST00000374469.1_Silent_p.L2440L|SVEP1_ENST00000297826.5_Silent_p.L389L NM_153366.3 NP_699197.3 Q4LDE5 SVEP1_HUMAN sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 2463 Sushi 18. cell adhesion cytoplasm|extracellular region|membrane calcium ion binding p.L2466L(1) NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4) 147 TGCAGGTATAGAGAGCTGTGC 0.478000 17 44 0 0 1 0 0 CAPN13 92291 broad.mit.edu 37 2 30974111 30974111 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:30974111G>A ENST00000295055.8 - 11 1270 c.1094C>T c.(1093-1095)cCt>cTt p.P365L CAPN13_ENST00000534090.2_Missense_Mutation_p.P365L NM_144575.2 NP_653176.2 Q6MZZ7 CAN13_HUMAN calpain 13 365 proteolysis intracellular calcium ion binding|calcium-dependent cysteine-type endopeptidase activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1) 30 all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155) ATCATTCCGAGGTCCTCCTGC 0.512000 9 27 0 0 1 0 0 KLKB1 3818 broad.mit.edu 37 4 187159437 187159437 + Silent SNP C C T rs139178458 TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:187159437C>T ENST00000264690.6 + 6 703 c.516C>T c.(514-516)ccC>ccT p.P172P KLKB1_ENST00000513864.1_Silent_p.P172P NM_000892.3 NP_000883.2 P03952 KLKB1_HUMAN kallikrein B, plasma (Fletcher factor) 1 172 Apple 2. blood coagulation, intrinsic pathway|Factor XII activation|fibrinolysis|plasminogen activation|positive regulation of fibrinolysis cytoplasm|extracellular space|plasma membrane serine-type endopeptidase activity p.P172P(2) breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 40 all_cancers(14;1.55e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00664)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243) OV - Ovarian serous cystadenocarcinoma(60;1.29e-10)|BRCA - Breast invasive adenocarcinoma(30;3.8e-05)|GBM - Glioblastoma multiforme(59;0.000131)|STAD - Stomach adenocarcinoma(60;0.000292)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.168) AGTACAGTCCCGGAGGAACAC 0.458000 25 88 0 0 1 0 0 OR14A16 284532 broad.mit.edu 37 1 247978452 247978452 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:247978452C>T ENST00000357627.1 - 1 579 c.580G>A c.(580-582)Gaa>Aaa p.E194K NM_001001966.1 NP_001001966.1 Q8NHC5 O14AG_HUMAN olfactory receptor, family 14, subfamily A, member 16 194 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(32)|skin(2)|stomach(1) 45 AGTGCAATTTCTCTTATTAAA 0.383000 35 88 0 0 1 0 0 FBXO24 26261 broad.mit.edu 37 7 100184267 100184267 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:100184267C>T ENST00000241071.6 + 1 341 c.19C>T c.(19-21)Cct>Tct p.P7S FBXO24_ENST00000498195.1_Intron|FBXO24_ENST00000360609.2_Missense_Mutation_p.P7S|FBXO24_ENST00000465843.1_Missense_Mutation_p.P7S NM_033506.2 NP_277041.1 O75426 FBX24_HUMAN F-box protein 24 7 ubiquitin ligase complex ubiquitin-protein ligase activity NS(2)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(3)|skin(4)|urinary_tract(2) 28 Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439) GAAGGCGGTCCCTTTGCTAAG 0.577000 37 104 0 0 1 0 0 WDR83OS 51398 broad.mit.edu 37 19 12779212 12779212 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:12779212G>A ENST00000596731.1 - 4 2234 c.282C>T c.(280-282)tcC>tcT p.S94S WDR83_ENST00000418543.3_Intron|WDR83OS_ENST00000222190.5_Silent_p.S92S|CTD-2192J16.24_ENST00000597961.1_Intron NM_016145.3 NP_057229.1 Q9Y284 CS056_HUMAN WD repeat domain 83 opposite strand 94 integral to membrane TCTGCAGATAGGACATCACCA 0.572000 8 15 0 0 1 0 0 RTTN 25914 broad.mit.edu 37 18 67843957 67843957 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr18:67843957G>A ENST00000255674.6 - 11 1716 c.1430C>T c.(1429-1431)tCc>tTc p.S477F RTTN_ENST00000437017.1_Missense_Mutation_p.S477F|RTTN_ENST00000454359.1_Missense_Mutation_p.S477F NM_173630.3 NP_775901.3 Q86VV8 RTTN_HUMAN rotatin 477 binding NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 80 Esophageal squamous(42;0.129) TGCAAACAGGGAAATGCTGAT 0.443000 56 116 0 0 1 0 0 PLAUR 5329 broad.mit.edu 37 19 44160772 44160772 + Nonsense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:44160772G>A ENST00000221264.4 - 4 757 c.331C>T c.(331-333)Cga>Tga p.R111* PLAUR_ENST00000340093.3_Nonsense_Mutation_p.R111*|PLAUR_ENST00000339082.3_Nonsense_Mutation_p.R111*|PLAUR_ENST00000601723.1_Nonsense_Mutation_p.R111* NM_001005377.2 NP_001005377.1 Q03405 UPAR_HUMAN plasminogen activator, urokinase receptor 111 UPAR/Ly6 1. Cleavage; by U-PA. attachment of GPI anchor to protein|blood coagulation|C-terminal protein lipidation|cellular component movement|chemotaxis|fibrinolysis|regulation of proteolysis anchored to membrane|cell surface|endoplasmic reticulum lumen|endoplasmic reticulum membrane|extracellular region|extrinsic to membrane|integral to membrane|plasma membrane enzyme binding|U-plasminogen activator receptor activity endometrium(1)|kidney(4)|large_intestine(5)|lung(5)|ovary(1)|stomach(1)|urinary_tract(3) 20 Prostate(69;0.0153) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Streptokinase(DB00086)|Tenecteplase(DB00031)|Urokinase(DB00013) TAACGGCTTCGGGAATAGGTG 0.592000 4 100 0 0 1 0 0 YTHDC2 64848 broad.mit.edu 37 5 112917322 112917322 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:112917322C>T ENST00000161863.4 + 25 3776 c.3563C>T c.(3562-3564)cCt>cTt p.P1188L NM_022828.3 NP_073739.3 Q9H6S0 YTDC2_HUMAN YTH domain containing 2 1188 ATP binding|ATP-dependent helicase activity|nucleic acid binding NS(2)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(13)|lung(10)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 43 all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244) OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594) GAAGAGCTTCCTTTGGCCTCA 0.403000 26 43 0 0 1 0 0 SNX14 57231 broad.mit.edu 37 6 86238072 86238072 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:86238072G>A ENST00000314673.3 - 20 2079 c.1903C>T c.(1903-1905)Cct>Tct p.P635S SNX14_ENST00000508980.1_5'UTR|SNX14_ENST00000513865.1_Intron|SNX14_ENST00000369627.2_Missense_Mutation_p.P626S|SNX14_ENST00000346348.3_Missense_Mutation_p.P582S|SNX14_ENST00000505648.1_Missense_Mutation_p.P583S NM_153816.3 NP_722523.1 Q9Y5W7 SNX14_HUMAN sorting nexin 14 635 PX. cell communication|protein transport integral to membrane phosphatidylinositol binding|signal transducer activity NS(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(11)|skin(1) 22 all_cancers(76;4.83e-07)|Acute lymphoblastic leukemia(125;3.3e-08)|Prostate(29;2.55e-07)|all_hematologic(105;3.66e-05)|all_epithelial(107;0.000695)|Lung NSC(302;0.197)|all_lung(197;0.24) BRCA - Breast invasive adenocarcinoma(108;0.0423) TGGGCATCAGGAAATGCACCT 0.323000 7 143 0 0 1 0 0 FGG 2266 broad.mit.edu 37 4 155528065 155528065 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:155528065G>A ENST00000404648.3 - 8 1160 c.921C>T c.(919-921)ttC>ttT p.F307F FGG_ENST00000405164.1_Silent_p.F315F|FGG_ENST00000407946.1_Silent_p.F315F|FGG_ENST00000336098.3_Silent_p.F307F NM_000509.4 NP_000500.2 P02679 FIBG_HUMAN fibrinogen gamma chain 307 Fibrinogen C-terminal. platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen eukaryotic cell surface binding|protein binding, bridging|receptor binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 all_hematologic(180;0.215) Renal(120;0.0458) Sucralfate(DB00364) CCCCACCAGCGAAGTAGGCAT 0.468000 51 80 0 0 1 0 0 OR52J3 119679 broad.mit.edu 37 11 5068133 5068133 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:5068133G>A ENST00000380370.1 + 1 378 c.378G>A c.(376-378)gtG>gtA p.V126V NM_001001916.2 NP_001001916.2 Q8NH60 O52J3_HUMAN olfactory receptor, family 52, subfamily J, member 3 126 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(1)|kidney(6)|large_intestine(6)|lung(19)|ovary(1)|skin(2) 36 Medulloblastoma(188;0.00131)|all_neural(188;0.0189)|Breast(177;0.0204) Epithelial(150;9.29e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.19) ACCGTTATGTGGCCGTCTGTG 0.478000 28 23 0 0 1 0 0 CNTNAP2 26047 broad.mit.edu 37 7 147914489 147914489 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:147914489G>A ENST00000361727.3 + 19 3636 c.3120G>A c.(3118-3120)caG>caA p.Q1040Q CNTNAP2_ENST00000538075.1_Silent_p.Q99Q NM_014141.5 NP_054860.1 Q9UHC6 CNTP2_HUMAN contactin associated protein-like 2 1040 behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex receptor binding NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3) 188 Melanoma(164;0.153) all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794) OV - Ovarian serous cystadenocarcinoma(82;0.0319) CCGACCAGCAGAACTCCCACC 0.542000 HNSCC(39;0.1) 13 249 0 0 1 0 0 ETNK1 55500 broad.mit.edu 37 12 22811976 22811976 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:22811976C>T ENST00000266517.4 + 3 801 c.712C>T c.(712-714)Cat>Tat p.H238Y NM_018638.4 NP_061108.2 Q9HBU6 EKI1_HUMAN ethanolamine kinase 1 238 RLIARQLAKIHAIHAHNGWIPKSNLWLKMGK -> SLSSLT LCKGKTTRCFGLTGCRGSRLLLSFF (in Ref. 2; AAH06111). phosphatidylethanolamine biosynthetic process cytoplasm ATP binding|ethanolamine kinase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 TGCTAAAATCCATGCTATTCA 0.378000 29 83 0 0 1 0 0 FOLR2 2350 broad.mit.edu 37 11 71932088 71932088 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:71932088C>T ENST00000449475.2 + 3 674 c.376C>T c.(376-378)Ccc>Tcc p.P126S FOLR2_ENST00000454954.2_Missense_Mutation_p.P68S|FOLR2_ENST00000298223.6_Missense_Mutation_p.P109S P14207 FOLR2_HUMAN folate receptor 2 (fetal) 109 folic acid transport anchored to membrane|extracellular region|membrane fraction|plasma membrane folic acid binding|receptor activity breast(3)|large_intestine(3)|ovary(1)|skin(1) 8 Folic Acid(DB00158) CAACCTGGGGCCCTGGATCCA 0.617000 17 32 0 0 1 0 0 CD19 930 broad.mit.edu 37 16 28948826 28948826 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr16:28948826G>A ENST00000538922.1 + 10 1416 c.1354G>A c.(1354-1356)Gaa>Aaa p.E452K CD19_ENST00000324662.3_Missense_Mutation_p.E452K|CD19_ENST00000567541.1_Missense_Mutation_p.E452K NM_001178098.1|NM_001770.5 NP_001171569.1|NP_001761.3 P15391 CD19_HUMAN CD19 molecule 452 cellular defense response external side of plasma membrane|integral to plasma membrane protein binding|receptor signaling protein activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(4)|urinary_tract(1) 29 TCCTGAGGATGAAGACTCCTT 0.587000 7 138 0 0 1 0 0 PRRX2 51450 broad.mit.edu 37 9 132482910 132482910 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:132482910G>A ENST00000372469.4 + 3 710 c.483G>A c.(481-483)agG>agA p.R161R NM_016307.3 NP_057391.1 Q99811 PRRX2_HUMAN paired related homeobox 2 161 nuclear chromosome sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity lung(2)|pancreas(1) 3 Ovarian(14;0.00556) AGTTCCGCAGGAATGAAAGGG 0.682000 16 169 0 0 1 0 0 MTHFD1L 25902 broad.mit.edu 37 6 151355699 151355699 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:151355699C>T ENST00000367321.3 + 25 2931 c.2657C>T c.(2656-2658)cCt>cTt p.P886L NM_001242767.1|NM_001242768.1|NM_015440.4 NP_001229696.1|NP_001229697.1|NP_056255.2 Q6UB35 C1TM_HUMAN methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like 886 Formyltetrahydrofolate synthetase. folic acid-containing compound biosynthetic process|formate metabolic process|one-carbon metabolic process|tetrahydrofolate metabolic process mitochondrion ATP binding|formate-tetrahydrofolate ligase activity|protein homodimerization activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2) 29 Ovarian(120;0.128) OV - Ovarian serous cystadenocarcinoma(155;8.7e-12) GAACTCTCTCCTGAGGCACAA 0.388000 8 79 0 0 1 0 0 CYP24A1 1591 broad.mit.edu 37 20 52774648 52774648 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr20:52774648C>T ENST00000216862.3 - 9 1606 c.1213G>A c.(1213-1215)Ggt>Agt p.G405S CYP24A1_ENST00000395954.3_Missense_Mutation_p.G263S|CYP24A1_ENST00000395955.3_Missense_Mutation_p.G405S NM_000782.4 NP_000773.2 Q07973 CP24A_HUMAN cytochrome P450, family 24, subfamily A, polypeptide 1 405 hormone biosynthetic process|osteoblast differentiation|vitamin D catabolic process|vitamin D receptor signaling pathway|xenobiotic metabolic process mitochondrial inner membrane 1-alpha,25-dihydroxyvitamin D3 24-hydroxylase activity|electron carrier activity|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen breast(2)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 24 Lung NSC(4;1.08e-05)|all_lung(4;2.7e-05) STAD - Stomach adenocarcinoma(23;0.206) Calcidiol(DB00146)|Calcitriol(DB00136)|Cholecalciferol(DB00169)|Ergocalciferol(DB00153)|Paricalcitol(DB00910) GCATATTCACCCAGAACTGTT 0.383000 11 66 0 0 1 0 0 CDC37 11140 broad.mit.edu 37 19 10503964 10503964 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:10503964G>A ENST00000222005.2 - 6 933 c.880C>T c.(880-882)Ccc>Tcc p.P294S NM_007065.3 NP_008996.1 Q16543 CDC37_HUMAN cell division cycle 37 294 protein targeting|regulation of cyclin-dependent protein kinase activity|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway unfolded protein binding breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1) 16 OV - Ovarian serous cystadenocarcinoma(20;4.65e-10)|Epithelial(33;6.48e-07)|all cancers(31;2.31e-06) GBM - Glioblastoma multiforme(1328;0.0318) ACCTCGACGGGGTCCAGGCCG 0.721000 7 75 0 0 1 0 0 ACSBG1 23205 broad.mit.edu 37 15 78486298 78486298 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr15:78486298G>A ENST00000258873.4 - 4 723 c.518C>T c.(517-519)tCg>tTg p.S173L ACSBG1_ENST00000541759.1_Intron|ACSBG1_ENST00000560817.1_Intron NM_001199377.1|NM_015162.4 NP_001186306.1|NP_055977.3 Q96GR2 ACBG1_HUMAN acyl-CoA synthetase bubblegum family member 1 173 long-chain fatty acid metabolic process|myelination|very long-chain fatty acid metabolic process cytoplasmic membrane-bounded vesicle|endoplasmic reticulum|microsome ATP binding|long-chain fatty acid-CoA ligase activity|very long-chain fatty acid-CoA ligase activity endometrium(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1) 37 GCCCACTGCCGAGAAGAACCA 0.647000 16 46 0 0 1 0 0 OR2T4 127074 broad.mit.edu 37 1 248525658 248525658 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:248525658G>A ENST00000366475.1 + 1 776 c.776G>A c.(775-777)gGg>gAg p.G259E NM_001004696.1 NP_001004696.1 Q8NH00 OR2T4_HUMAN olfactory receptor, family 2, subfamily T, member 4 259 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47) 56 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) ACCATCCACGGGATGAACTCA 0.512000 12 181 0 0 1 0 0 FAM171B 165215 broad.mit.edu 37 2 187626849 187626849 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:187626849C>T ENST00000304698.5 + 8 1983 c.1780C>T c.(1780-1782)Cat>Tat p.H594Y NM_177454.3 NP_803237.3 Q6P995 F171B_HUMAN family with sequence similarity 171, member B 594 integral to membrane DNA binding NS(1)|breast(6)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(22)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 54 AATTCATTCTCATGCACAGCC 0.478000 38 65 0 0 1 0 0 PCDHB2 56133 broad.mit.edu 37 5 140475556 140475556 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:140475556C>T ENST00000194155.4 + 1 1330 c.1182C>T c.(1180-1182)ttC>ttT p.F394F NM_018936.2 NP_061759.1 Q9Y5E7 PCDB2_HUMAN 394 Cadherin 4. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2) 71 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TTCCTTTTTTCTTGAAACCTT 0.493000 23 63 0 0 1 0 0 C6 729 broad.mit.edu 37 5 41143099 41143099 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:41143099G>A ENST00000263413.3 - 18 2897 c.2633C>T c.(2632-2634)tCc>tTc p.S878F C6_ENST00000337836.5_Missense_Mutation_p.S878F NM_001115131.1 NP_001108603.2 P13671 CO6_HUMAN complement component 6 878 C5b-binding domain.|Complement control factor I module 2.|Kazal-like 2. complement activation, classical pathway|cytolysis|innate immune response membrane attack complex protein binding central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2) 96 Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157) GACACATTTGGAAGTGGAGGC 0.463000 24 56 0 0 1 0 0 DNAH5 1767 broad.mit.edu 37 5 13841240 13841240 + Splice_Site SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:13841240C>T ENST00000265104.4 - 34 5589 c.e34-1 NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) ATAATCCAACCTTATGGAAAT 0.318000 Kartagener syndrome 19 32 0 0 1 0 0 RFX2 5990 broad.mit.edu 37 19 6016249 6016249 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:6016249C>T ENST00000303657.5 - 7 780 c.631G>A c.(631-633)Gaa>Aaa p.E211K RFX2_ENST00000592546.1_Missense_Mutation_p.E186K|RFX2_ENST00000359161.3_Missense_Mutation_p.E211K|CTC-232P5.1_ENST00000587836.1_RNA NM_000635.3 NP_000626.2 P48378 RFX2_HUMAN regulatory factor X, 2 (influences HLA class II expression) 211 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 21 CTCACACCTTCCGCTGTTTCA 0.512000 23 65 0 0 1 0 0 ABI3 51225 broad.mit.edu 37 17 47300033 47300033 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:47300033G>A ENST00000225941.1 + 8 1555 c.1057G>A c.(1057-1059)Ggg>Agg p.G353R ABI3_ENST00000419580.2_Missense_Mutation_p.G347R NM_001135186.1|NM_016428.2 NP_001128658.1|NP_057512.1 Q9P2A4 ABI3_HUMAN ABI family, member 3 353 SH3. cellular component movement|regulation of cell migration cytoplasm|lamellipodium protein binding breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1) 12 Epithelial(5;6.37e-06)|all cancers(6;6.36e-05) CAGCTCAGAGGGGACTGGATT 0.602000 HNSCC(55;0.14) 9 25 0 0 1 0 0 ZNF506 440515 broad.mit.edu 37 19 19916844 19916844 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:19916844G>A ENST00000443905.2 - 3 369 c.222C>T c.(220-222)ccC>ccT p.P74P CTC-559E9.6_ENST00000589657.1_RNA|CTC-559E9.4_ENST00000590274.1_lincRNA|ZNF506_ENST00000545006.1_Silent_p.P74P|ZNF506_ENST00000587452.1_Silent_p.P74P|ZNF506_ENST00000587461.1_Silent_p.P74P|CTC-559E9.6_ENST00000591884.1_RNA|ZNF506_ENST00000540806.2_Silent_p.P74P|ZNF506_ENST00000450683.2_Intron Q5JVG8 ZN506_HUMAN zinc finger protein 506 74 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus DNA binding|zinc ion binding breast(1)|endometrium(1)|large_intestine(7)|lung(3)|skin(1)|stomach(1) 14 ACCTACCTGGGGGTTTGGCAA 0.423000 11 189 0 0 1 0 0 SCN10A 6336 broad.mit.edu 37 3 38766803 38766803 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:38766803C>T ENST00000449082.2 - 17 3089 c.3090G>A c.(3088-3090)caG>caA p.Q1030Q NM_006514.2 NP_006505.2 Q9Y5Y9 SCNAA_HUMAN sodium channel, voltage-gated, type X, alpha subunit 1030 sensory perception voltage-gated sodium channel complex NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 150 KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945) Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296) GCAGCTGCTCCTGCTAGTGAG 0.582000 18 42 0 0 1 0 0 CAPNS1 826 broad.mit.edu 37 19 36640647 36640647 + Missense_Mutation SNP T T G TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:36640647T>G ENST00000587718.1 + 10 954 c.889T>G c.(889-891)Tgg>Ggg p.W297G CAPNS1_ENST00000589146.1_Intron|CAPNS1_ENST00000246533.3_Intron|CAPNS1_ENST00000590874.1_Intron|CAPNS1_ENST00000588780.1_Intron|CAPNS1_ENST00000588815.1_Intron P04632 CPNS1_HUMAN calpain, small subunit 1 0 positive regulation of cell proliferation cytoplasm|plasma membrane calcium ion binding|calcium-dependent cysteine-type endopeptidase activity cervix(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1) 5 Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.06) CAGCCGTCCCTGGGTGAGGGC 0.607000 26 37 0 0 1 0 0 ZCCHC11 23318 broad.mit.edu 37 1 52896886 52896886 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:52896886G>A ENST00000371544.3 - 28 4769 c.4507C>T c.(4507-4509)Ccg>Tcg p.P1503S ZCCHC11_ENST00000257177.4_Missense_Mutation_p.P1504S NM_001009881.2|NM_015269.2 NP_001009881.1|NP_056084.1 Q5TAX3 TUT4_HUMAN zinc finger, CCHC domain containing 11 1503 Pro-rich. miRNA catabolic process|pre-miRNA processing|RNA 3'-end processing|stem cell maintenance cytoplasm|nucleolus nucleic acid binding|protein binding|RNA uridylyltransferase activity|zinc ion binding NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 58 GGCCAGGACGGGGCAGGGATC 0.552000 31 58 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9002184 9002184 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:9002184G>A ENST00000397910.4 - 52 40523 c.40320C>T c.(40318-40320)ttC>ttT p.F13440F MUC16_ENST00000380951.5_Silent_p.F81F NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 13442 cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding p.F13440F(1)|p.F125F(1) NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 TCTGATGGGTGAAACCTGCAT 0.507000 14 33 0 0 1 0 0 F13A1 2162 broad.mit.edu 37 6 6197560 6197560 + Splice_Site SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:6197560C>T ENST00000264870.3 - 9 1378 c.e9-1 NM_000129.3 NP_000120.2 P00488 F13A_HUMAN coagulation factor XIII, A1 polypeptide peptide cross-linking|platelet activation|platelet degranulation extracellular region|platelet alpha granule lumen acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 62 Ovarian(93;0.0816) all_hematologic(90;0.152) L-Glutamine(DB00130) GTGGTAGTTCCTTAGAAAACA 0.512000 18 73 0 0 1 0 0 ATP13A3 79572 broad.mit.edu 37 3 194159638 194159638 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:194159638G>A ENST00000439040.1 - 17 2565 c.1774C>T c.(1774-1776)Cgt>Tgt p.R592C ATP13A3_ENST00000256031.4_Missense_Mutation_p.R592C Q9H7F0 AT133_HUMAN ATPase type 13A3 592 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding NS(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 24 all_cancers(143;6.01e-09)|Ovarian(172;0.0634) Melanoma(1037;0.211) OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;5.98e-05) TTGGGAGGACGAACCACTGTG 0.378000 41 100 0 0 1 0 0 EGFR 1956 broad.mit.edu 37 7 55266457 55266457 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:55266457G>A ENST00000275493.2 + 23 2926 c.2749G>A c.(2749-2751)Gga>Aga p.G917R EGFR_ENST00000455089.1_Missense_Mutation_p.G872R|EGFR_ENST00000442591.1_Intron|EGFR_ENST00000454757.2_Missense_Mutation_p.G864R NM_005228.3 NP_005219.2 P00533 EGFR_HUMAN epidermal growth factor receptor 917 Protein kinase. activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6) 14110 all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318) GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607) Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072) GCCATATGACGGAATCCCTGC 0.498000 8 """A, O, Mis""" """glioma, NSCLC""" NSCLC Lung Cancer, Familial Clustering of TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08) 33 87 0 0 1 0 0 FLG2 388698 broad.mit.edu 37 1 152329604 152329604 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:152329604C>T ENST00000388718.5 - 3 730 c.658G>A c.(658-660)Ggg>Agg p.G220R FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA NM_001014342.2 NP_001014364.1 Q5D862 FILA2_HUMAN filaggrin family member 2 220 Ser-rich. calcium ion binding|structural molecule activity NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 188 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TACTCCTCCCCAGATTCCCTA 0.458000 130 191 0 0 1 0 0 BTBD16 118663 broad.mit.edu 37 10 124045742 124045742 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:124045742G>A ENST00000368994.2 + 5 618 c.367G>A c.(367-369)Gag>Aag p.E123K BTBD16_ENST00000260723.4_Missense_Mutation_p.E122K Q32M84 BTBDG_HUMAN BTB (POZ) domain containing 16 122 breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(3)|skin(2)|stomach(1)|urinary_tract(1) 15 all_neural(114;0.107)|Lung NSC(174;0.175)|all_lung(145;0.222)|Breast(234;0.238) CCCCCTGAGGGAGCTGGAGGA 0.597000 82 131 0 0 1 0 0 EVI5L 115704 broad.mit.edu 37 19 7914195 7914195 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:7914195C>T ENST00000270530.4 + 5 802 c.606C>T c.(604-606)atC>atT p.I202I EVI5L_ENST00000538904.2_Silent_p.I202I NM_145245.3 NP_660288.1 Q96CN4 EVI5L_HUMAN ecotropic viral integration site 5-like 202 Rab-GAP TBC. intracellular protein binding|Rab GTPase activator activity breast(1)|lung(9)|ovary(1)|upper_aerodigestive_tract(1) 12 GCGCCTTCATCGTGGGCCTGC 0.647000 22 56 0 0 1 0 0 MORN4 118812 broad.mit.edu 37 10 99379391 99379391 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:99379391G>A ENST00000307450.6 - 2 183 c.20C>T c.(19-21)tCc>tTc p.S7F MORN4_ENST00000370635.3_Missense_Mutation_p.S7F|PI4K2A_ENST00000555577.1_Intron|MORN4_ENST00000335628.3_Intron|MORN4_ENST00000478953.1_Missense_Mutation_p.S7F|PI4K2A_ENST00000370649.3_Intron NM_001098831.1|NM_178832.3 NP_001092301.1|NP_849154.1 Q8NDC4 MORN4_HUMAN MORN repeat containing 4 7 large_intestine(1)|lung(1)|stomach(2) 4 GTAGGTGAAGGAACCTTTTGT 0.488000 32 67 0 0 1 0 0 NUTM2G 441457 broad.mit.edu 37 9 99694495 99694495 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:99694495G>A ENST00000354649.3 + 2 1223 c.508G>A c.(508-510)Gtg>Atg p.V170M HIATL2_ENST00000506067.1_Intron|NUTM2G_ENST00000372322.3_Missense_Mutation_p.V170M NM_001045477.2 NP_001038942.1 NUT family member 2G GGCCCCCATCGTGTCCCCAGG 0.697000 36 122 0 0 1 0 0 SORCS3 22986 broad.mit.edu 37 10 106918652 106918652 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:106918652C>T ENST00000369701.3 + 11 1859 c.1632C>T c.(1630-1632)ccC>ccT p.P544P NM_014978.1 NP_055793.1 Q9UPU3 SORC3_HUMAN sortilin-related VPS10 domain containing receptor 3 544 integral to membrane neuropeptide receptor activity p.P544P(1) autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 131 Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191) Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628) CATTTTAGCCCTTCTGTTCCT 0.478000 27 54 0 0 1 0 0 KIAA0930 23313 broad.mit.edu 37 22 45598980 45598980 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr22:45598980G>A ENST00000336156.4 - 7 808 c.743C>T c.(742-744)cCc>cTc p.P248L KIAA0930_ENST00000251993.7_Missense_Mutation_p.P253L|KIAA0930_ENST00000443310.3_Missense_Mutation_p.P230L|KIAA0930_ENST00000391627.2_Missense_Mutation_p.P214L NM_001009880.1 NP_001009880.1 Q6ICG6 K0930_HUMAN KIAA0930 248 protein binding endometrium(1)|kidney(4)|large_intestine(2)|lung(7)|urinary_tract(1) 15 CTTGCCCTGGGGGCCCTTCAT 0.637000 115 242 0 0 1 0 0 RRP8 23378 broad.mit.edu 37 11 6621426 6621426 + Missense_Mutation SNP C C A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:6621426C>A ENST00000254605.6 - 7 1438 c.1321G>T c.(1321-1323)Gct>Tct p.A441S RRP8_ENST00000534343.1_Missense_Mutation_p.A125S NM_015324.3 NP_056139.1 O43159 RRP8_HUMAN ribosomal RNA processing 8, methyltransferase, homolog (yeast) 441 chromatin modification|chromatin silencing at rDNA|rRNA processing|transcription, DNA-dependent chromatin silencing complex|nucleolus|rDNA heterochromatin methylated histone residue binding|S-adenosylmethionine-dependent methyltransferase activity endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2) 13 GAAAGCTGAGCCTTGGGCCCT 0.537000 4 70 0.00909568 0.0091096 1 1 0 TNFSF10 8743 broad.mit.edu 37 3 172241118 172241118 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:172241118G>A ENST00000241261.2 - 1 179 c.57C>T c.(55-57)atC>atT p.I19I TNFSF10_ENST00000420541.2_Silent_p.I19I NM_003810.3 NP_003801.1 P50591 TNF10_HUMAN tumor necrosis factor (ligand) superfamily, member 10 19 activation of caspase activity|activation of pro-apoptotic gene products|cell-cell signaling|immune response|induction of apoptosis by extracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|signal transduction extracellular space|integral to plasma membrane|soluble fraction cytokine activity|metal ion binding|tumor necrosis factor receptor binding breast(2)|cervix(1)|large_intestine(1)|lung(6)|ovary(1)|skin(4) 15 Ovarian(172;0.00197)|Breast(254;0.158) Lung(28;1.67e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235) TGAAGATCACGATCAGCACGC 0.562000 34 84 0 0 1 0 0 THBS4 7060 broad.mit.edu 37 5 79336073 79336073 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:79336073G>A ENST00000350881.2 + 2 452 c.262G>A c.(262-264)Gaa>Aaa p.E88K THBS4_ENST00000511733.1_5'UTR NM_003248.4 NP_003239.2 P35443 TSP4_HUMAN thrombospondin 4 88 TSP N-terminal. endothelial cell-cell adhesion|myoblast migration|negative regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation basement membrane|extracellular space calcium ion binding|heparin binding|integrin binding|structural molecule activity breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3) 34 Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261) OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34) TAAATATTTTGAATTTACTGT 0.358000 15 27 0 0 1 0 0 ZNF573 126231 broad.mit.edu 37 19 38262214 38262214 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:38262214C>T ENST00000392138.1 - 2 362 c.24G>A c.(22-24)ctG>ctA p.L8L ZNF573_ENST00000536220.1_5'UTR|ZNF573_ENST00000339503.4_5'UTR|ZNF573_ENST00000585724.1_Intron|ZNF573_ENST00000357309.3_Intron|ZNF573_ENST00000590414.2_Silent_p.L64L Q86YE8 ZN573_HUMAN zinc finger protein 573 44 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|cervix(3)|endometrium(2)|large_intestine(8)|liver(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)|Lung(45;0.0813)|LUSC - Lung squamous cell carcinoma(53;0.146) CCAGTGATACCAGGTTTCTAT 0.408000 12 36 0 0 1 0 0 TLDC1 57707 broad.mit.edu 37 16 84520283 84520283 + Silent SNP G G A rs145452661 byFrequency TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr16:84520283G>A ENST00000343629.6 - 5 1094 c.912C>T c.(910-912)ttC>ttT p.F304F TLDC1_ENST00000535580.1_Silent_p.F277F NM_020947.3 NP_065998.3 TBC/LysM-associated domain containing 1 CAAACCCACCGAACACATGCT 0.572000 7 72 0 0 1 0 0 B3GNT8 374907 broad.mit.edu 37 19 41932187 41932187 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:41932187G>A ENST00000321702.2 - 3 950 c.497C>T c.(496-498)gCc>gTc p.A166V B3GNT8_ENST00000601379.1_5'UTR NM_198540.2 NP_940942.1 Q7Z7M8 B3GN8_HUMAN UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 8 166 poly-N-acetyllactosamine biosynthetic process|protein glycosylation Golgi membrane|integral to membrane galactosyltransferase activity|protein N-acetylglucosaminyltransferase activity cervix(1)|kidney(2)|large_intestine(1)|lung(5)|prostate(2) 11 CTCTCTCACGGCCTGTCGTTC 0.622000 48 101 0 0 1 0 0 CTNNA2 1496 broad.mit.edu 37 2 80136788 80136788 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:80136788G>A ENST00000466387.1 + 11 1645 c.921G>A c.(919-921)ctG>ctA p.L307L CTNNA2_ENST00000496558.1_Silent_p.L307L|CTNNA2_ENST00000541047.1_Silent_p.L307L|CTNNA2_ENST00000361291.4_Silent_p.L341L|CTNNA2_ENST00000402739.4_Silent_p.L307L|CTNNA2_ENST00000540488.1_Silent_p.L307L P26232 CTNA2_HUMAN catenin (cadherin-associated protein), alpha 2 307 axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity actin cytoskeleton|axon|cytosol cadherin binding|structural constituent of cytoskeleton breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 78 AGGAGAGGCTGGAGAGCATCA 0.612000 5 167 0 0 1 0 0 UGT3A1 133688 broad.mit.edu 37 5 35965812 35965812 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:35965812C>T ENST00000274278.3 - 4 876 c.519G>A c.(517-519)ttG>ttA p.L173L UGT3A1_ENST00000513233.1_Intron|UGT3A1_ENST00000507113.1_Silent_p.L139L|UGT3A1_ENST00000333811.4_Silent_p.L119L|UGT3A1_ENST00000503189.1_Silent_p.L173L NM_152404.3 NP_689617.3 Q6NUS8 UD3A1_HUMAN UDP glycosyltransferase 3 family, polypeptide A1 173 integral to membrane glucuronosyltransferase activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4) 46 all_lung(31;0.000197) Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) GCCCAAAATCCAAAGAGCCGA 0.443000 5 105 0 0 1 0 0 TACC2 10579 broad.mit.edu 37 10 123987394 123987394 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:123987394G>A ENST00000369005.1 + 14 8107 c.7767G>A c.(7765-7767)gcG>gcA p.A2589A TACC2_ENST00000369004.3_Silent_p.A679A|TACC2_ENST00000368999.1_Silent_p.A679A|TACC2_ENST00000358010.1_Silent_p.A735A|TACC2_ENST00000515603.1_Silent_p.A2544A|TACC2_ENST00000369001.1_Silent_p.A293A|TACC2_ENST00000260733.3_Silent_p.A667A|TACC2_ENST00000334433.3_Silent_p.A2589A|TACC2_ENST00000515273.1_Silent_p.A2593A|TACC2_ENST00000513429.1_Silent_p.A735A|TACC2_ENST00000360561.3_Silent_p.A667A|TACC2_ENST00000369000.1_Silent_p.A289A|TACC2_ENST00000453444.2_Silent_p.A2593A NM_206862.2 NP_996744.2 O95359 TACC2_HUMAN transforming, acidic coiled-coil containing protein 2 2589 microtubule organizing center|nucleus nuclear hormone receptor binding NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 83 all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197) ACACTGCTGCGAAAAACCAGC 0.522000 57 125 0 0 1 0 0 ABCA13 154664 broad.mit.edu 37 7 48547540 48547540 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:48547540C>T ENST00000435803.1 + 50 13443 c.13419C>T c.(13417-13419)atC>atT p.I4473I ABCA13_ENST00000544596.1_Silent_p.I203I NM_152701.3 NP_689914.2 Q86UQ4 ABCAD_HUMAN ATP-binding cassette, sub-family A (ABC1), member 13 4473 transport integral to membrane ATP binding|ATPase activity breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4) 270 CTGCATCCATCGGCAGCTCTG 0.557000 21 27 0 0 1 0 0 TPRA1 131601 broad.mit.edu 37 3 127295531 127295531 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:127295531C>T ENST00000355552.3 - 6 803 c.427G>A c.(427-429)Gag>Aag p.E143K TPRA1_ENST00000296210.7_Missense_Mutation_p.E143K|TPRA1_ENST00000489960.1_Missense_Mutation_p.E143K|TPRA1_ENST00000450633.2_Missense_Mutation_p.E143K NM_001136053.1 NP_001129525.1 Q86W33 TPRA1_HUMAN transmembrane protein, adipocyte asscociated 1 143 aging|lipid metabolic process integral to membrane G-protein coupled receptor activity endometrium(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 9 GACTTACTCTCCAGGTGGCCT 0.632000 9 23 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179611670 179611670 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:179611670C>T ENST00000360870.5 - 46 15679 c.15457G>A c.(15457-15459)Gaa>Aaa p.E5153K TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Intron|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000578746.1_RNA NM_133379.3 NP_596870.2 Q8WZ42 TITIN_HUMAN titin 33449 Ig-like 32. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) CCCCTCTCTTCTGTAGGTGTG 0.413000 8 227 0 0 1 0 0 CCDC18 343099 broad.mit.edu 37 1 93649039 93649039 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:93649039G>A ENST00000343253.7 + 2 623 c.121G>A c.(121-123)Gaa>Aaa p.E41K CCDC18_ENST00000334652.5_5'UTR|CCDC18_ENST00000338949.4_5'UTR|CCDC18_ENST00000557479.1_Missense_Mutation_p.E159K|CCDC18_ENST00000401026.3_Missense_Mutation_p.E41K Q5T9S5 CCD18_HUMAN coiled-coil domain containing 18 41 breast(5)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 42 all_lung(203;0.00196)|Lung NSC(277;0.00903)|Melanoma(281;0.099)|all_neural(321;0.185)|Glioma(108;0.203) all cancers(265;0.00166)|GBM - Glioblastoma multiforme(16;0.00551)|Epithelial(280;0.0967) GAGTTTAGGGGAAGAGTTATC 0.328000 25 62 0 0 1 0 0 CSMD1 64478 broad.mit.edu 37 8 3038647 3038647 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:3038647G>A ENST00000602557.1 - 38 6268 c.5713C>T c.(5713-5715)Cac>Tac p.H1905Y CSMD1_ENST00000602723.1_Missense_Mutation_p.H1905Y|CSMD1_ENST00000537824.1_Missense_Mutation_p.H1904Y|CSMD1_ENST00000400186.3_Missense_Mutation_p.H1905Y|CSMD1_ENST00000539096.1_Missense_Mutation_p.H1904Y|CSMD1_ENST00000523387.1_5'UTR|CSMD1_ENST00000542608.1_Missense_Mutation_p.H1904Y|CSMD1_ENST00000520002.1_Missense_Mutation_p.H1905Y Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 1905 CUB 11. integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) TATTCCAGGTGGAAACCAGCA 0.398000 13 34 0 0 1 0 0 C3 718 broad.mit.edu 37 19 6679170 6679170 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:6679170C>T ENST00000245907.6 - 38 4688 c.4596G>A c.(4594-4596)cgG>cgA p.R1532R C3_ENST00000599668.1_5'UTR NM_000064.2 NP_000055.2 P01024 CO3_HUMAN complement component 3 1532 NTR. complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production extracellular space endopeptidase inhibitor activity|receptor binding breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3) 72 GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661) CCTTGTCCAGCCGTTCTTCCA 0.557000 24 66 0 0 1 0 0 SORL1 6653 broad.mit.edu 37 11 121475877 121475877 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:121475877G>A ENST00000260197.7 + 34 4836 c.4707G>A c.(4705-4707)ggG>ggA p.G1569G SORL1_ENST00000527934.1_Silent_p.G184G|SORL1_ENST00000532694.1_Silent_p.G415G|SORL1_ENST00000525532.1_Silent_p.G513G|SORL1_ENST00000534286.1_Silent_p.G479G NM_003105.5 NP_003096.1 Q92673 SORL_HUMAN sortilin-related receptor, L(DLR class) A repeats containing 1569 Fibronectin type-III 1. cholesterol metabolic process|lipid transport|receptor-mediated endocytosis integral to plasma membrane|low-density lipoprotein particle low-density lipoprotein particle binding|transmembrane receptor activity NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2) 91 Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113) BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108) ACTTCTCTGGGGATGTGACTT 0.423000 57 69 0 0 1 0 0 PRSS54 221191 broad.mit.edu 37 16 58319860 58319860 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr16:58319860C>T ENST00000219301.4 - 5 897 c.503G>A c.(502-504)gGa>gAa p.G168E PRSS54_ENST00000543437.1_Missense_Mutation_p.G69E|PRSS54_ENST00000567164.1_Missense_Mutation_p.G168E NM_001080492.1 NP_001073961.1 Q6PEW0 PRS54_HUMAN protease, serine, 54 168 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 GGGATTCCATCCTGACACCCA 0.542000 4 48 0 0 1 0 0 NFKBIZ 64332 broad.mit.edu 37 3 101572436 101572436 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:101572436C>T ENST00000326172.5 + 5 1181 c.1066C>T c.(1066-1068)Ccc>Tcc p.P356S NFKBIZ_ENST00000326151.5_Intron|NFKBIZ_ENST00000394054.2_Missense_Mutation_p.P256S NM_031419.3 NP_113607.1 Q9BYH8 IKBZ_HUMAN nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, zeta 356 Required for transcriptional activity (By similarity). regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 24 TATTGCTAATCCCATGCAGAC 0.488000 61 134 0 0 1 0 0 DMGDH 29958 broad.mit.edu 37 5 78340241 78340241 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:78340241G>A ENST00000255189.3 - 6 908 c.880C>T c.(880-882)Ctg>Ttg p.L294L DMGDH_ENST00000540686.1_Intron|DMGDH_ENST00000380311.4_Silent_p.L93L NM_013391.2 NP_037523.2 Q9UI17 M2GD_HUMAN dimethylglycine dehydrogenase 294 choline metabolic process|glycine catabolic process mitochondrial matrix aminomethyltransferase activity|dimethylglycine dehydrogenase activity|electron carrier activity breast(2)|endometrium(2)|kidney(2)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1) 34 all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192) OV - Ovarian serous cystadenocarcinoma(54;6.52e-45)|Epithelial(54;5.96e-40)|all cancers(79;3.56e-35) GATCCTTCCAGGTCACGGAGC 0.428000 38 112 0 0 1 0 0 GABRG1 2565 broad.mit.edu 37 4 46066497 46066497 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:46066497G>A ENST00000295452.4 - 5 753 c.586C>T c.(586-588)Ccc>Tcc p.P196S NM_173536.3 NP_775807.2 Q8N1C3 GBRG1_HUMAN gamma-aminobutyric acid (GABA) A receptor, gamma 1 196 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 76 Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23) TCATCCATGGGAAAGTTATGA 0.269000 39 101 0 0 1 0 0 ZNF300 91975 broad.mit.edu 37 5 150276164 150276164 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:150276164C>T ENST00000446148.2 - 7 1112 c.685G>A c.(685-687)Gat>Aat p.D229N ZNF300_ENST00000427179.1_3'UTR|ZNF300_ENST00000418587.2_Missense_Mutation_p.D177N|ZNF300_ENST00000394226.2_Missense_Mutation_p.D213N|ZNF300_ENST00000274599.5_Missense_Mutation_p.D213N NM_001172831.1 NP_001166302.1 Q96RE9 ZN300_HUMAN zinc finger protein 300 213 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(4)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2) 27 Medulloblastoma(196;0.109)|all_hematologic(541;0.131) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) AAACTCTGATCAGGTTTTTTT 0.333000 56 99 0 0 1 0 0 ECM2 1842 broad.mit.edu 37 9 95274316 95274316 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:95274316C>T ENST00000344604.5 - 5 1296 c.1147G>A c.(1147-1149)Ggc>Agc p.G383S ECM2_ENST00000444490.2_Missense_Mutation_p.G361S|CENPP_ENST00000375587.3_Intron NM_001197295.1|NM_001393.3 NP_001184224.1|NP_001384.1 O94769 ECM2_HUMAN extracellular matrix protein 2, female organ and adipocyte specific 383 cell-matrix adhesion integrin binding breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 27 GGACCTATGCCTGAAGAAGTG 0.403000 22 81 0 0 1 0 0 ZP3 7784 broad.mit.edu 37 7 76062828 76062828 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:76062828G>A ENST00000416245.1 + 3 1142 c.49G>A c.(49-51)Gga>Aga p.G17R ZP3_ENST00000394857.3_Missense_Mutation_p.G193R|ZP3_ENST00000336517.4_Missense_Mutation_p.G142R P21754 ZP3_HUMAN zona pellucida glycoprotein 3 (sperm receptor) 193 binding of sperm to zona pellucida|blastocyst formation|egg coat formation|humoral immune response mediated by circulating immunoglobulin|intracellular protein transport|negative regulation of binding of sperm to zona pellucida|negative regulation of transcription, DNA-dependent|oocyte development|phosphatidylinositol-mediated signaling|positive regulation of acrosomal vesicle exocytosis|positive regulation of acrosome reaction|positive regulation of antral ovarian follicle growth|positive regulation of calcium ion import|positive regulation of calcium ion transport via store-operated calcium channel activity|positive regulation of humoral immune response|positive regulation of interferon-gamma production|positive regulation of interleukin-4 production|positive regulation of leukocyte migration|positive regulation of ovarian follicle development|positive regulation of phosphatidylinositol biosynthetic process|positive regulation of protein kinase activity|positive regulation of protein kinase B signaling cascade|positive regulation of T cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of type IV hypersensitivity|protein kinase C signaling cascade endoplasmic reticulum|extracellular space|Golgi apparatus|integral to membrane|multivesicular body|outer acrosomal membrane|perinuclear region of cytoplasm|plasma membrane|proteinaceous extracellular matrix acrosin binding|manganese ion transmembrane transporter activity|receptor activity|sugar binding endometrium(1)|large_intestine(3)|lung(2)|skin(1) 7 CTTCCACCTGGGAGATGCAGC 0.592000 25 272 0 0 1 0 0 AKAP9 10142 broad.mit.edu 37 7 91726037 91726037 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:91726037G>A ENST00000359028.2 + 41 10001 c.9776G>A c.(9775-9777)aGg>aAg p.R3259K AKAP9_ENST00000358100.2_Missense_Mutation_p.R3205K|AKAP9_ENST00000356239.3_Missense_Mutation_p.R3255K Q99996 AKAP9_HUMAN A kinase (PRKA) anchor protein 9 3259 G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport centrosome|cytosol|Golgi apparatus receptor binding NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2) 155 all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249) STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225) CAGAAACAAAGGAATCTTCAG 0.363000 T BRAF papillary thyroid 33 141 0 0 1 0 0 NPHS1 4868 broad.mit.edu 37 19 36339010 36339010 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:36339010C>T ENST00000378910.5 - 11 1372 c.1373G>A c.(1372-1374)gGg>gAg p.G458E NPHS1_ENST00000353632.6_Missense_Mutation_p.G458E NM_004646.3 NP_004637.1 O60500 NPHN_HUMAN nephrosis 1, congenital, Finnish type (nephrin) 458 Ig-like C2-type 5. cell adhesion|excretion|muscle organ development integral to plasma membrane NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 74 all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) CACCCGGGTCCCAGCCCGGAG 0.627000 6 140 0 0 1 0 0 SMUG1 23583 broad.mit.edu 37 12 54575997 54575997 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:54575997G>A ENST00000508394.2 - 3 758 c.696C>T c.(694-696)gtC>gtT p.V232V SMUG1_ENST00000337581.3_Silent_p.V232V|SMUG1_ENST00000505662.1_5'UTR|SMUG1_ENST00000513838.1_Intron|SMUG1_ENST00000506595.1_Intron|SMUG1_ENST00000514685.1_Intron|SMUG1_ENST00000505128.1_3'UTR|SMUG1_ENST00000243112.5_Intron|SMUG1_ENST00000514196.1_Intron|SMUG1_ENST00000401977.2_Silent_p.V232V NM_001243787.1|NM_001243788.1|NM_014311.2 NP_001230716.1|NP_001230717.1|NP_055126.1 Q53HV7 SMUG1_HUMAN single-strand-selective monofunctional uracil-DNA glycosylase 1 232 depyrimidination nucleolus|nucleoplasm DNA binding|protein binding|single-strand selective uracil DNA N-glycosylase activity kidney(1)|large_intestine(4)|lung(1) 6 CTTCCACCTGGACCTCTGGCA 0.672000 Base excision repair (BER), DNA glycosylases 57 94 0 0 1 0 0 MYO18B 84700 broad.mit.edu 37 22 26351298 26351298 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr22:26351298G>A ENST00000335473.7 + 39 6374 c.6124G>A c.(6124-6126)Gag>Aag p.E2042K MYO18B_ENST00000536101.1_Missense_Mutation_p.E2042K|MYO18B_ENST00000407587.2_Missense_Mutation_p.E2043K NM_032608.5 NP_115997.5 Q8IUG5 MY18B_HUMAN myosin XVIIIB 2042 Tail. nucleus|sarcomere|unconventional myosin complex actin binding|ATP binding|motor activity NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 146 GGTGCAGCGGGAGGCAGAGGC 0.637000 14 40 0 0 1 0 0 MYLK3 91807 broad.mit.edu 37 16 46741635 46741635 + Missense_Mutation SNP T T C TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr16:46741635T>C ENST00000394809.4 - 13 2556 c.2441A>G c.(2440-2442)aAa>aGa p.K814R MYLK3_ENST00000536476.1_Missense_Mutation_p.K473R|MYLK3_ENST00000562104.1_5'UTR NM_182493.2 NP_872299.2 Q32MK0 MYLK3_HUMAN myosin light chain kinase 3 814 cardiac myofibril assembly|cellular response to interleukin-1|positive regulation of sarcomere organization|regulation of vascular permeability involved in acute inflammatory response|sarcomere organization|sarcomerogenesis cytosol ATP binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(5)|stomach(3) 37 all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116) AGTTGGAAATTTCCTTAACCT 0.393000 23 28 0 0 1 0 0 ZNF676 163223 broad.mit.edu 37 19 22364101 22364101 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:22364101C>T ENST00000397121.2 - 3 735 c.418G>A c.(418-420)Ggt>Agt p.G140S NM_001001411.2 NP_001001411.2 Q8N7Q3 ZN676_HUMAN zinc finger protein 676 140 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2) 67 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114) CATTTCAAACCTTTCTCTCCA 0.323000 47 113 0 0 1 0 0 PPP1R9A 55607 broad.mit.edu 37 7 94750137 94750137 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:94750137G>A ENST00000289495.5 + 3 1858 c.1642G>A c.(1642-1644)Gat>Aat p.D548N PPP1R9A_ENST00000424654.1_Missense_Mutation_p.D548N|PPP1R9A_ENST00000456331.2_Missense_Mutation_p.D548N|PPP1R9A_ENST00000340694.4_Missense_Mutation_p.D548N|PPP1R9A_ENST00000433360.1_Missense_Mutation_p.D548N|PPP1R9A_ENST00000433881.1_Missense_Mutation_p.D548N NM_001166161.1 NP_001159633.1 Q9ULJ8 NEB1_HUMAN protein phosphatase 1, regulatory subunit 9A 548 PDZ. cell junction|synapse|synaptosome actin binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5) 71 all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09) STAD - Stomach adenocarcinoma(171;0.0031) TGCTCAACGGGATGGCAGGTA 0.388000 HNSCC(28;0.073) 58 195 0 0 1 0 0 ADAM20 8748 broad.mit.edu 37 14 70990274 70990274 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr14:70990274G>A ENST00000256389.3 - 2 1595 c.1351C>T c.(1351-1353)Cca>Tca p.P451S RP11-486O13.4_ENST00000556646.1_lincRNA NM_003814.4 NP_003805.3 O43506 ADA20_HUMAN ADAM metallopeptidase domain 20 401 Disintegrin. proteolysis|single fertilization integral to membrane metalloendopeptidase activity|zinc ion binding autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(1)|skin(2) 27 KIRC - Kidney renal clear cell carcinoma(12;0.133)|Kidney(31;0.188) all cancers(60;0.00294)|BRCA - Breast invasive adenocarcinoma(234;0.00668)|OV - Ovarian serous cystadenocarcinoma(108;0.0344) ATATTCCCTGGATATGGAGGC 0.428000 46 108 0 0 1 0 0 CD109 135228 broad.mit.edu 37 6 74495127 74495127 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:74495127C>T ENST00000437994.2 + 20 2695 c.2264C>T c.(2263-2265)cCc>cTc p.P755L CD109_ENST00000287097.5_Missense_Mutation_p.P755L|CD109_ENST00000422508.2_Missense_Mutation_p.P678L NM_001159587.1|NM_133493.3 NP_001153059.1|NP_598000.2 Q6YHK3 CD109_HUMAN CD109 molecule 755 anchored to membrane|extracellular space|plasma membrane serine-type endopeptidase inhibitor activity NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 TTGAATCTTCCCTACTCTGTT 0.328000 19 34 0 0 1 0 0 MUC15 143662 broad.mit.edu 37 11 26587000 26587000 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:26587000C>T ENST00000436318.2 - 2 620 c.487G>A c.(487-489)Gca>Aca p.A163T MUC15_ENST00000455601.2_Missense_Mutation_p.A136T|ANO3_ENST00000256737.3_Intron|ANO3_ENST00000531568.1_Intron|ANO3_ENST00000525139.1_Intron|ANO3_ENST00000537978.1_Intron|MUC15_ENST00000529533.1_Missense_Mutation_p.A163T|MUC15_ENST00000527569.1_Missense_Mutation_p.A163T|MUC15_ENST00000281268.8_Missense_Mutation_p.A163T Q8N387 MUC15_HUMAN mucin 15, cell surface associated 136 extracellular region|integral to membrane|plasma membrane breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 25 TTGGGATGTGCTGAGATGGGC 0.438000 61 117 0 0 1 0 0 ASCC3 10973 broad.mit.edu 37 6 101090585 101090585 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:101090585G>A ENST00000369162.2 - 24 4117 c.3773C>T c.(3772-3774)cCt>cTt p.P1258L NM_006828.2 NP_006819.2 Q8N3C0 HELC1_HUMAN activating signal cointegrator 1 complex subunit 3 1258 SEC63 1. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|microtubule cytoskeleton ATP binding|ATP-dependent helicase activity|nucleic acid binding breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 92 all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13) BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199) CTCAAAAATAGGGATTGTAAA 0.348000 65 28 0 0 1 0 0 SYK 6850 broad.mit.edu 37 9 93624602 93624602 + Silent SNP A A T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:93624602A>T ENST00000375754.4 + 4 841 c.693A>T c.(691-693)ggA>ggT p.G231G SYK_ENST00000375747.1_Silent_p.G231G|SYK_ENST00000375751.4_Silent_p.G231G|SYK_ENST00000375746.1_Silent_p.G231G NM_003177.5 NP_003168.2 P43405 KSYK_HUMAN spleen tyrosine kinase 231 SH2 2. cell proliferation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|neutrophil chemotaxis|organ morphogenesis|platelet activation|protein complex assembly cytosol|T cell receptor complex ATP binding|integrin binding|non-membrane spanning protein tyrosine kinase activity breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)|skin(2)|stomach(2) 26 TCCCCGAGGGAAAGAAGTTCG 0.587000 T """ETV6, ITK""" """MDS, peripheral T-cell lymphoma""" 15 32 0 0 1 0 0 HGD 3081 broad.mit.edu 37 3 120352110 120352110 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:120352110G>A ENST00000283871.5 - 13 1531 c.1072C>T c.(1072-1074)Ctg>Ttg p.L358L NM_000187.3 NP_000178.2 Q93099 HGD_HUMAN homogentisate 1,2-dioxygenase 358 L-phenylalanine catabolic process|tyrosine catabolic process cytosol homogentisate 1,2-dioxygenase activity|metal ion binding cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2) 25 GBM - Glioblastoma multiforme(114;0.158) CCCCCTGGCAGGAACCCACCT 0.522000 62 102 0 0 1 0 0 OR5H15 403274 broad.mit.edu 37 3 97888281 97888281 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:97888281C>T ENST00000356526.2 + 1 738 c.738C>T c.(736-738)ttC>ttT p.F246F NM_001005515.1 NP_001005515.1 A6NDH6 O5H15_HUMAN olfactory receptor, family 5, subfamily H, member 15 246 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(2)|stomach(1) 35 CCCATCTCTTCTCTGTCTGTT 0.428000 23 88 0 0 1 0 0 NOL11 25926 broad.mit.edu 37 17 65717622 65717622 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:65717622C>T ENST00000253247.4 + 4 556 c.441C>T c.(439-441)atC>atT p.I147I NOL11_ENST00000535137.1_5'UTR NM_015462.3 NP_056277.2 Q9H8H0 NOL11_HUMAN nucleolar protein 11 147 nucleolus haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1) 11 all_cancers(12;1.54e-10) BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0518)|COAD - Colon adenocarcinoma(4;0.0977)|LUSC - Lung squamous cell carcinoma(166;0.24) AAACTGTTATCTCTGATGAAG 0.388000 48 120 0 0 1 0 0 DNM1 1759 broad.mit.edu 37 9 131010864 131010864 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:131010864C>T ENST00000341179.7 + 19 2000 c.1908C>T c.(1906-1908)gcC>gcT p.A636A DNM1_ENST00000372923.3_Silent_p.A636A|DNM1_ENST00000486160.1_Silent_p.A636A|DNM1_ENST00000475805.1_Silent_p.A636A|DNM1_ENST00000393594.3_Silent_p.A636A NM_001005336.1 NP_001005336.1 Q05193 DYN1_HUMAN dynamin 1 636 receptor-mediated endocytosis microtubule GTP binding|GTPase activity breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(15)|lung(6)|ovary(2)|urinary_tract(2) 32 CATGGCAGGCCAGCGAGACCG 0.582000 41 70 0 0 1 0 0 STXBP5L 9515 broad.mit.edu 37 3 120973898 120973898 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:120973898G>A ENST00000273666.6 + 16 1869 c.1598G>A c.(1597-1599)gGa>gAa p.G533E STXBP5L_ENST00000472879.1_Missense_Mutation_p.G533E|STXBP5L_ENST00000497029.1_Missense_Mutation_p.G533E|STXBP5L_ENST00000492541.1_Missense_Mutation_p.G533E|STXBP5L_ENST00000471454.1_Missense_Mutation_p.G533E NM_014980.2 NP_055795.1 Q9Y2K9 STB5L_HUMAN syntaxin binding protein 5-like 533 exocytosis|protein transport cytoplasm|integral to membrane|plasma membrane NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 68 GBM - Glioblastoma multiforme(114;0.0694) TGTGTATCAGGAGTCTCTGCA 0.328000 19 60 0 0 1 0 0 BRPF3 27154 broad.mit.edu 37 6 36169144 36169144 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:36169144C>T ENST00000357641.6 + 2 1298 c.1045C>T c.(1045-1047)Cat>Tat p.H349Y BRPF3_ENST00000339717.7_Missense_Mutation_p.H349Y|BRPF3_ENST00000534694.1_Missense_Mutation_p.H349Y|BRPF3_ENST00000543502.1_Missense_Mutation_p.H349Y|BRPF3_ENST00000534400.1_Missense_Mutation_p.H349Y|BRPF3_ENST00000443324.2_Missense_Mutation_p.H349Y NM_015695.2 NP_056510.2 Q9ULD4 BRPF3_HUMAN bromodomain and PHD finger containing, 3 349 histone H3 acetylation|platelet activation|platelet degranulation cytosol|extracellular region|MOZ/MORF histone acetyltransferase complex protein binding|zinc ion binding breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2) 40 CACAGCATTCCATGTGACATG 0.537000 56 33 0 0 1 0 0 PGLYRP4 57115 broad.mit.edu 37 1 153312952 153312952 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:153312952C>T ENST00000368739.3 - 7 1075 c.717G>A c.(715-717)ggG>ggA p.G239G PGLYRP4_ENST00000359650.5_Silent_p.G243G Q96LB8 PGRP4_HUMAN peptidoglycan recognition protein 4 243 defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process extracellular region|intracellular|membrane N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding breast(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1) 23 all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.171) TGCAGGTCCTCCCGGCAGTGT 0.567000 73 75 0 0 1 0 0 HERC1 8925 broad.mit.edu 37 15 63930632 63930632 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr15:63930632G>A ENST00000443617.2 - 63 12158 c.12071C>T c.(12070-12072)cCc>cTc p.P4024L NM_003922.3 NP_003913.3 Q15751 HERC1_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 4024 protein modification process|transport cytosol|Golgi apparatus|membrane acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 132 TGAGAATGAGGGAGCTGCTGC 0.438000 48 122 0 0 1 0 0 ZNF229 7772 broad.mit.edu 37 19 44933278 44933278 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:44933278G>A ENST00000291187.4 - 6 1982 c.1660C>T c.(1660-1662)Cac>Tac p.H554Y CTC-512J12.4_ENST00000588655.1_RNA|ZNF229_ENST00000591289.1_Intron|ZNF229_ENST00000588931.1_Missense_Mutation_p.H560Y NM_001278510.1 NP_001265439.1 Q9UJW7 ZN229_HUMAN zinc finger protein 229 560 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1) 45 Prostate(69;0.0352) TGATGGATGTGGAGGTCGGAG 0.552000 39 72 0 0 1 0 0 MAOA 4128 broad.mit.edu 37 X 43590569 43590569 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chrX:43590569C>T ENST00000338702.3 + 7 850 c.727C>T c.(727-729)Cct>Tct p.P243S MAOA_ENST00000542639.1_Missense_Mutation_p.P110S|MAOA_ENST00000497485.1_3'UTR NM_000240.3 NP_000231.1 P21397 AOFA_HUMAN monoamine oxidase A 243 behavior|neurotransmitter biosynthetic process|neurotransmitter catabolic process|neurotransmitter secretion|xenobiotic metabolic process integral to membrane|mitochondrial outer membrane primary amine oxidase activity|protein binding NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 18 Almotriptan(DB00918)|Carbidopa(DB00190)|Clonazepam(DB01068)|Dopamine(DB00988)|Fluvoxamine(DB00176)|Ginkgo biloba(DB01381)|Imipramine(DB00458)|Isocarboxazid(DB01247)|Levodopa(DB01235)|Linezolid(DB00601)|Lorazepam(DB00186)|Moclobemide(DB01171)|Nicotine(DB00184)|Norepinephrine(DB00368)|Phenelzine(DB00780)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Pseudoephedrine(DB00852)|Rasagiline(DB01367)|Riboflavin(DB00140)|Rizatriptan(DB00953)|Selegiline(DB01037)|Sumatriptan(DB00669)|Testosterone(DB00624)|Tranylcypromine(DB00752)|Zolmitriptan(DB00315) GCTGAACCATCCTGTCACTCA 0.463000 20 15 0 0 1 0 0 WNK2 65268 broad.mit.edu 37 9 96024152 96024152 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:96024152C>T ENST00000297954.4 + 12 3123 c.3123C>T c.(3121-3123)acC>acT p.T1041T WNK2_ENST00000395475.2_3'UTR|WNK2_ENST00000395477.2_Silent_p.T1041T|WNK2_ENST00000356055.3_5'UTR|WNK2_ENST00000427277.2_Silent_p.T653T|WNK2_ENST00000349097.3_Silent_p.T653T Q9Y3S1 WNK2_HUMAN WNK lysine deficient protein kinase 2 1041 intracellular protein kinase cascade ATP binding|protein binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2) 54 AGGTCCCCACCGTGCCTGTGC 0.701000 33 77 0 0 1 0 0 RP11-876N24.2 0 broad.mit.edu 37 16 10960158 10960158 + RNA SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr16:10960158C>T ENST00000572017.1 - 0 438 TGAACAACTTCCAGGCCATCC 0.582000 10 21 0 0 1 0 0 DPP10 57628 broad.mit.edu 37 2 116485407 116485407 + Missense_Mutation SNP A A C TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:116485407A>C ENST00000410059.1 + 8 1072 c.592A>C c.(592-594)Aat>Cat p.N198H DPP10_ENST00000488208.1_3'UTR|DPP10_ENST00000409163.1_Missense_Mutation_p.N148H|DPP10_ENST00000310323.8_Missense_Mutation_p.N191H|DPP10_ENST00000393147.2_Missense_Mutation_p.N202H NM_001178037.1|NM_020868.3 NP_001171508.1|NP_065919.2 Q8N608 DPP10_HUMAN dipeptidyl-peptidase 10 (non-functional) 198 proteolysis integral to membrane|membrane fraction serine-type peptidase activity breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1) 101 TATTTTTGAAAATAATATCTA 0.303000 19 40 0 0 1 0 0 LPHN2 23266 broad.mit.edu 37 1 82452623 82452623 + Nonsense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:82452623C>T ENST00000370728.1 + 24 4180 c.3535C>T c.(3535-3537)Cga>Tga p.R1179* LPHN2_ENST00000335786.5_Intron|LPHN2_ENST00000271029.4_Intron|LPHN2_ENST00000394879.1_Nonsense_Mutation_p.R1181*|LPHN2_ENST00000370713.1_Intron|LPHN2_ENST00000370717.2_Nonsense_Mutation_p.R1194*|LPHN2_ENST00000370730.1_Intron|LPHN2_ENST00000370723.1_Nonsense_Mutation_p.R1181*|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000370727.1_Intron|LPHN2_ENST00000370715.1_Intron|LPHN2_ENST00000370725.1_Nonsense_Mutation_p.R1194*|LPHN2_ENST00000359929.3_Intron|LPHN2_ENST00000370721.1_Nonsense_Mutation_p.R1104*|LPHN2_ENST00000319517.6_Intron O95490 LPHN2_HUMAN latrophilin 2 1179 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 119 all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248) CCCTCTTCTTCGACCCCACGG 0.378000 33 72 0 0 1 0 0 C4orf21 55345 broad.mit.edu 37 4 113461187 113461187 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:113461187C>T ENST00000505019.1 - 27 6129 c.6004G>A c.(6004-6006)Gag>Aag p.E2002K RP11-402J6.1_ENST00000504009.1_RNA NM_018392.4 NP_060862.3 Q86YA3 CD021_HUMAN chromosome 4 open reading frame 21 0 breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 Ovarian(17;0.156) OV - Ovarian serous cystadenocarcinoma(123;0.000676) ATAATGATCTCCTTTTCAGCT 0.398000 4 12 0 0 1 0 0 ITFG3 83986 broad.mit.edu 37 16 304446 304446 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr16:304446C>T ENST00000399932.3 + 3 485 c.34C>T c.(34-36)Cac>Tac p.H12Y ITFG3_ENST00000301679.2_Missense_Mutation_p.H12Y|ITFG3_ENST00000600536.1_Missense_Mutation_p.H12Y|ITFG3_ENST00000450082.2_Missense_Mutation_p.H12Y|ITFG3_ENST00000301678.3_Missense_Mutation_p.H12Y|ITFG3_ENST00000442458.2_Missense_Mutation_p.H12Y Q9H0X4 ITFG3_HUMAN integrin alpha FG-GAP repeat containing 3 12 integral to membrane central_nervous_system(3)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 16 all_cancers(16;0.000129)|all_epithelial(16;0.000206)|Hepatocellular(16;0.00264)|Lung NSC(18;0.0626)|all_lung(18;0.13) GGCCGAAATCCACCCCTTGAA 0.493000 OREG0003695 type=REGULATORY REGION|Gene=C16orf9|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 120 232 0 0 1 0 0 PEX16 9409 broad.mit.edu 37 11 45931712 45931712 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:45931712G>A ENST00000241041.3 - 11 986 c.969C>T c.(967-969)gcC>gcT p.A323A NM_004813.2|NM_057174.2 NP_004804.1|NP_476515.1 Q9Y5Y5 PEX16_HUMAN peroxisomal biogenesis factor 16 0 Interaction with PEX19. ER-dependent peroxisome organization|peroxisome membrane biogenesis|protein import into peroxisome matrix|protein import into peroxisome membrane endoplasmic reticulum membrane|integral to peroxisomal membrane protein C-terminus binding large_intestine(2)|lung(2)|ovary(2)|skin(1) 7 GBM - Glioblastoma multiforme(35;0.223) GGCACGGAGAGGCCGCACGCT 0.677000 4 97 0 0 1 0 0 PHB2 11331 broad.mit.edu 37 12 7077170 7077170 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:7077170G>A ENST00000535923.1 - 5 773 c.492C>T c.(490-492)atC>atT p.I164I PHB2_ENST00000399433.2_Silent_p.I164I|PHB2_ENST00000542912.1_Silent_p.I164I|PHB2_ENST00000440277.1_Silent_p.I164I|PHB2_ENST00000546111.1_Intron NM_001144831.1 NP_001138303.1 Q99623 PHB2_HUMAN prohibitin 2 164 Necessary for transcriptional repression. negative regulation of transcription, DNA-dependent|transcription, DNA-dependent mitochondrial inner membrane|nucleus estrogen receptor binding|receptor activity ovary(2)|pancreas(1) 3 GCTCCCGGCGGATCAACAGGG 0.587000 4 125 0 0 1 0 0 OTOR 56914 broad.mit.edu 37 20 16729634 16729634 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr20:16729634G>A ENST00000246081.2 + 2 282 c.238G>A c.(238-240)Gaa>Aaa p.E80K NM_020157.2 NP_064542.1 Q9NRC9 OTOR_HUMAN otoraplin 80 SH3. sensory perception of sound extracellular region breast(1)|central_nervous_system(1)|endometrium(1)|liver(4)|lung(1)|ovary(1)|upper_aerodigestive_tract(1) 10 TGGAGCTGGAGAATTTTGGGC 0.363000 14 47 0 0 1 0 0 RSAD1 55316 broad.mit.edu 37 17 48561831 48561831 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:48561831C>T ENST00000258955.2 + 8 1221 c.1136C>T c.(1135-1137)aCc>aTc p.T379I NM_018346.1 NP_060816.1 Q9HA92 RSAD1_HUMAN radical S-adenosyl methionine domain containing 1 379 porphyrin biosynthetic process mitochondrion 4 iron, 4 sulfur cluster binding|coproporphyrinogen oxidase activity|metal ion binding breast(1)|endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1) 16 Breast(11;1.93e-18) BRCA - Breast invasive adenocarcinoma(22;1.55e-09) CCCCAGCTGACCCTGTGGGAT 0.632000 10 104 0 0 1 0 0 GPR133 283383 broad.mit.edu 37 12 131488836 131488836 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:131488836G>A ENST00000261654.5 + 11 1809 c.1250G>A c.(1249-1251)aGg>aAg p.R417K GPR133_ENST00000535015.1_Missense_Mutation_p.R449K|GPR133_ENST00000376682.4_Missense_Mutation_p.R103K NM_198827.3 NP_942122.2 Q6QNK2 GP133_HUMAN G protein-coupled receptor 133 417 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4) 67 all_neural(191;0.0982)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06) GCCTTCCACAGGCACGGTGAG 0.637000 21 37 0 0 1 0 0 SMARCA4 6597 broad.mit.edu 37 19 11170556 11170556 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:11170556C>T ENST00000358026.2 + 34 5143 c.4859C>T c.(4858-4860)tCc>tTc p.S1620F SMARCA4_ENST00000444061.3_Missense_Mutation_p.S1554F|SMARCA4_ENST00000589677.1_Missense_Mutation_p.S1557F|SMARCA4_ENST00000344626.4_Missense_Mutation_p.S1588F|SMARCA4_ENST00000590574.1_Missense_Mutation_p.S1555F|SMARCA4_ENST00000429416.3_Missense_Mutation_p.S1588F|SMARCA4_ENST00000413806.3_Missense_Mutation_p.S1558F|SMARCA4_ENST00000541122.2_Missense_Mutation_p.S1558F|SMARCA4_ENST00000450717.3_Missense_Mutation_p.S1557F NM_001128849.1 NP_001122321.1 P51532 SMCA4_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 1588 chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity p.?(1) adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 163 all_lung(6;0.0512)|Lung NSC(9;0.0568) gGCTCCGAATCCGAATGTGAG 0.647000 """F, N, Mis""" NSCLC 15 41 0 0 1 0 0 CARD6 84674 broad.mit.edu 37 5 40853541 40853541 + Nonsense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:40853541C>T ENST00000254691.5 + 3 2306 c.2107C>T c.(2107-2109)Caa>Taa p.Q703* CARD6_ENST00000381677.3_Intron NM_032587.3 NP_115976.2 Q9BX69 CARD6_HUMAN caspase recruitment domain family, member 6 703 apoptosis|regulation of apoptosis intracellular NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1) 62 AATGCCAATTCAAGAGCCTGG 0.483000 107 307 0 0 1 0 0 KRT84 3890 broad.mit.edu 37 12 52778897 52778897 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:52778897G>A ENST00000257951.3 - 1 539 c.473C>T c.(472-474)gCc>gTc p.A158V RP3-416H24.4_ENST00000547174.1_RNA NM_033045.3 NP_149034.2 Q9NSB2 KRT84_HUMAN keratin 84 158 Head. keratin filament structural constituent of epidermis breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(10)|skin(3) 27 all_hematologic(5;0.12) BRCA - Breast invasive adenocarcinoma(357;0.189) CACCCTCTGGGCATTGGGGTC 0.512000 102 215 0 0 1 0 0 ZFHX3 463 broad.mit.edu 37 16 72821626 72821626 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr16:72821626C>T ENST00000268489.5 - 10 11221 c.10549G>A c.(10549-10551)Ggc>Agc p.G3517S AC004943.1_ENST00000584072.1_RNA|ZFHX3_ENST00000397992.5_Missense_Mutation_p.G2603S NM_006885.3 NP_008816.3 Q15911 ZFHX3_HUMAN zinc finger homeobox 3 3517 Poly-Gly. muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation transcription factor complex enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11) 153 Ovarian(137;0.13) ccaccgccgccgccgccgcca 0.706000 4 29 0 0 1 0 0 C12orf54 121273 broad.mit.edu 37 12 48888622 48888622 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:48888622G>A ENST00000314014.2 + 8 415 c.284G>A c.(283-285)aGa>aAa p.R95K RP11-722P11.4_ENST00000551847.1_RNA|C12orf54_ENST00000548364.1_Missense_Mutation_p.R95K NM_152319.3 NP_689532.1 Q6X4T0 CL054_HUMAN chromosome 12 open reading frame 54 95 endometrium(1)|large_intestine(4) 5 CCAAAGTTGAGAAGATTGCAG 0.473000 55 116 0 0 1 0 0 AKAP13 11214 broad.mit.edu 37 15 86118501 86118501 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr15:86118501C>T ENST00000394518.2 + 6 897 c.802C>T c.(802-804)Cct>Tct p.P268S AKAP13_ENST00000361243.2_Missense_Mutation_p.P268S NM_001270546.1|NM_007200.3 NP_001257475.1|NP_009131.2 Q12802 AKP13_HUMAN A kinase (PRKA) anchor protein 13 268 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|membrane|membrane fraction|nucleus cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 98 ACACCCATTTCCTGGAGACGG 0.383000 67 124 0 0 1 0 0 LRRC18 474354 broad.mit.edu 37 10 50121722 50121722 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:50121722G>A ENST00000374160.3 - 1 555 c.479C>T c.(478-480)cCc>cTc p.P160L LRRC18_ENST00000298124.3_Missense_Mutation_p.P160L|WDFY4_ENST00000413659.2_Intron|WDFY4_ENST00000325239.5_Intron|RP11-523O18.7_ENST00000430438.1_RNA NM_001006939.3 NP_001006940.3 Q8N456 LRC18_HUMAN leucine rich repeat containing 18 160 cytoplasm NS(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1) 18 GATGCTCACGGGGATGTTGTT 0.542000 21 32 0 0 1 0 0 AOC1 26 broad.mit.edu 37 7 150558104 150558104 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:150558104C>T ENST00000493429.1 + 7 2647 c.2063C>T c.(2062-2064)cCt>cTt p.P688L AOC1_ENST00000467291.1_Missense_Mutation_p.P688L|AOC1_ENST00000416793.2_Missense_Mutation_p.P707L|AOC1_ENST00000480582.1_3'UTR|AOC1_ENST00000360937.4_Missense_Mutation_p.P688L amine oxidase, copper containing 1 ACAGCCACACCTGGGAACTCC 0.622000 41 121 0 0 1 0 0 MYH8 4626 broad.mit.edu 37 17 10304869 10304869 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:10304869C>T ENST00000403437.2 - 23 3016 c.2922G>A c.(2920-2922)acG>acA p.T974T CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA NM_002472.2 NP_002463.2 P13535 MYH8_HUMAN myosin, heavy chain 8, skeletal muscle, perinatal 974 muscle filament sliding cytosol|muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2) 134 CCTTGTTCTCCGTGGCATGTT 0.393000 Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling 106 309 0 0 1 0 0 RAB6C-AS1 100131320 broad.mit.edu 37 2 130725792 130725792 + RNA SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:130725792G>A ENST00000412425.1 - 0 826 NR_036537.1 AAAAAGATGAGGATGAATGTA 0.428000 9 26 0 0 1 0 0 BSN 8927 broad.mit.edu 37 3 49691452 49691452 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:49691452G>A ENST00000296452.4 + 5 4577 c.4463G>A c.(4462-4464)aGt>aAt p.S1488N NM_003458.3 NP_003449.2 Q9UPA5 BSN_HUMAN bassoon presynaptic cytomatrix protein 1488 synaptic transmission cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome metal ion binding breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 106 BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336) CCCTCAGAGAGTCCCACATTC 0.617000 52 113 0 0 1 0 0 SLC19A1 6573 broad.mit.edu 37 21 46935720 46935720 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr21:46935720G>A ENST00000311124.4 - 6 1780 c.1628C>T c.(1627-1629)cCt>cTt p.P543L SLC19A1_ENST00000485649.2_Missense_Mutation_p.P503L|SLC19A1_ENST00000380010.4_Intron|SLC19A1_ENST00000567670.1_Intron NM_194255.2 NP_919231.1 P41440 S19A1_HUMAN solute carrier family 19 (folate transporter), member 1 543 folic acid metabolic process integral to plasma membrane|membrane fraction folic acid binding|folic acid transporter activity|methotrexate transporter activity|reduced folate carrier activity endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|urinary_tract(1) 10 Colorectal(79;0.0569)|READ - Rectum adenocarcinoma(84;0.172) GCAGGGGGAAGGGGTTGTCAC 0.662000 19 39 0 0 1 0 0 ANKEF1 63926 broad.mit.edu 37 20 10030465 10030465 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr20:10030465G>A ENST00000378380.3 + 6 1577 c.1248G>A c.(1246-1248)aaG>aaA p.K416K SNAP25-AS1_ENST00000603542.1_RNA|SNAP25-AS1_ENST00000421143.2_RNA|ANKEF1_ENST00000378392.1_Silent_p.K416K|ANKEF1_ENST00000488991.1_3'UTR NM_198798.1 NP_942093.1 ankyrin repeat and EF-hand domain containing 1 CTAAGAAAAAGGAAAAAGGGA 0.423000 40 74 0 0 1 0 0 UGT2A3 79799 broad.mit.edu 37 4 69798408 69798408 + Nonsense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:69798408G>A ENST00000251566.4 - 3 964 c.934C>T c.(934-936)Caa>Taa p.Q312* UGT2A3_ENST00000420231.2_Nonsense_Mutation_p.Q23* NM_024743.3 NP_079019.3 Q6UWM9 UD2A3_HUMAN UDP glucuronosyltransferase 2 family, polypeptide A3 312 integral to membrane glucuronosyltransferase activity NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 36 GTAACATTTTGAAACAGTGAC 0.403000 91 162 0 0 1 0 0 ZNF542 147947 broad.mit.edu 37 19 56888977 56888977 + RNA SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:56888977G>A ENST00000490123.1 + 0 1495 NR_033418.1 zinc finger protein 542 CTGCACAGGAGAATTCATACT 0.413000 5 8 0 0 1 0 0 GHRHR 2692 broad.mit.edu 37 7 31013603 31013603 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:31013603C>T ENST00000409904.3 + 4 667 c.409C>T c.(409-411)Cta>Tta p.L137L GHRHR_ENST00000409316.1_Intron|GHRHR_ENST00000326139.2_Silent_p.L201L|GHRHR_ENST00000461424.1_3'UTR Q02643 GHRHR_HUMAN growth hormone releasing hormone receptor 201 activation of adenylate cyclase activity by G-protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of cell proliferation|positive regulation of growth hormone secretion|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of multicellular organism growth|response to estrogen stimulus|response to glucocorticoid stimulus cell surface|integral to membrane|nuclear inner membrane|nuclear matrix|nuclear outer membrane|plasma membrane|stored secretory granule growth factor binding|growth hormone-releasing hormone receptor activity|peptide hormone binding biliary_tract(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(18)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 35 Sermorelin(DB00010) CCCCCAGGTTCTATGCAAGGT 0.612000 24 71 0 0 1 0 0 CDHR1 92211 broad.mit.edu 37 10 85972868 85972868 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:85972868G>A ENST00000372117.3 + 16 1907 c.1804G>A c.(1804-1806)Gaa>Aaa p.E602K CDHR1_ENST00000440770.2_Missense_Mutation_p.E306K|CDHR1_ENST00000332904.3_Missense_Mutation_p.E602K NM_033100.2 NP_149091.1 Q96JP9 CDHR1_HUMAN cadherin-related family member 1 602 Cadherin 6. homophilic cell adhesion calcium ion binding|receptor activity breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1) 36 GGATGCAGAGGAACCCAACAA 0.537000 8 137 0 0 1 0 0 NBPF1 55672 broad.mit.edu 37 1 16902864 16902864 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:16902864G>A ENST00000430580.2 - 19 2904 c.2017C>T c.(2017-2019)Ctc>Ttc p.L673F NBPF1_ENST00000287968.8_Missense_Mutation_p.L38F|NBPF1_ENST00000432949.1_Missense_Mutation_p.L131F NM_017940.3 NP_060410.2 Q3BBV0 NBPF1_HUMAN neuroblastoma breakpoint family, member 1 673 cytoplasm UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179) TCCGGAGTGAGGAGGGCCTGG 0.577000 48 1055 0 0 1 0 0 WDR49 151790 broad.mit.edu 37 3 167218008 167218008 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:167218008C>T ENST00000308378.3 - 14 2213 c.1908G>A c.(1906-1908)gaG>gaA p.E636E WDR49_ENST00000479765.1_Intron|WDR49_ENST00000453925.2_Silent_p.E601E|WDR49_ENST00000476376.1_Silent_p.E461E NM_178824.3 NP_849146.1 Q8IV35 WDR49_HUMAN WD repeat domain 49 636 breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 50 TAAAGTATTTCTCAGGGTCTA 0.433000 91 190 0 0 1 0 0 ARSH 347527 broad.mit.edu 37 X 2945399 2945399 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chrX:2945399G>A ENST00000381130.2 + 7 1082 c.1082G>A c.(1081-1083)gGg>gAg p.G361E NM_001011719.1 NP_001011719.1 Q5FYA8 ARSH_HUMAN arylsulfatase family, member H 361 integral to membrane arylsulfatase activity|metal ion binding breast(3)|endometrium(8)|kidney(2)|large_intestine(6)|lung(13)|skin(1)|stomach(1) 34 all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186) CGTGTGCCAGGGATATTCCGG 0.502000 11 85 0 0 1 0 0 PRUNE2 158471 broad.mit.edu 37 9 79319870 79319870 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:79319870C>T ENST00000428286.1 - 8 7443 c.6243G>A c.(6241-6243)gaG>gaA p.E2081E PRUNE2_ENST00000376718.3_Silent_p.E2440E Q8WUY3 PRUN2_HUMAN prune homolog 2 (Drosophila) 2440 apoptosis|G1 phase|induction of apoptosis cytoplasm metal ion binding|pyrophosphatase activity endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1) 16 CCTGGTTTCCCTCACTTCTTC 0.517000 OREG0019258 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 14 0 0 1 0 0 APOB 338 broad.mit.edu 37 2 21229450 21229450 + Missense_Mutation SNP T T A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:21229450T>A ENST00000233242.1 - 26 10417 c.10290A>T c.(10288-10290)aaA>aaT p.K3430N NM_000384.2 NP_000375.2 P04114 APOB_HUMAN apolipoprotein B 3430 Heparin-binding. cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6) 305 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) GAATTTGGGCTTTTGTGGTTG 0.383000 51 169 0 0 1 0 0 FLT4 2324 broad.mit.edu 37 5 180047694 180047694 + Missense_Mutation SNP A A T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:180047694A>T ENST00000261937.6 - 16 2399 c.2321T>A c.(2320-2322)aTg>aAg p.M774K FLT4_ENST00000393347.3_Missense_Mutation_p.M774K|FLT4_ENST00000502649.1_Missense_Mutation_p.M774K NM_182925.4 NP_891555.2 P35916 VGFR3_HUMAN fms-related tyrosine kinase 4 774 positive regulation of cell proliferation integral to plasma membrane ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114) all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.134) Sorafenib(DB00398)|Sunitinib(DB01268) CACGATCTCCATGCTGCCCTT 0.602000 21 57 0 0 1 0 0 LTK 4058 broad.mit.edu 37 15 41805041 41805041 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr15:41805041C>T ENST00000263800.6 - 3 319 c.223G>A c.(223-225)Gcc>Acc p.A75T LTK_ENST00000453182.2_Missense_Mutation_p.A75T|LTK_ENST00000355166.5_Missense_Mutation_p.A75T|LTK_ENST00000561619.1_Intron NM_002344.5 NP_002335.2 P29376 LTK_HUMAN leukocyte receptor tyrosine kinase 75 apoptosis|cell proliferation|phosphatidylinositol 3-kinase cascade|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane|soluble fraction ATP binding|transmembrane receptor protein tyrosine kinase activity NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(16)|skin(3)|urinary_tract(1) 26 all_cancers(109;1.89e-19)|all_epithelial(112;2.28e-16)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.172) OV - Ovarian serous cystadenocarcinoma(18;2.1e-17)|GBM - Glioblastoma multiforme(113;1.34e-06)|Colorectal(105;0.0148)|BRCA - Breast invasive adenocarcinoma(123;0.113) CGGCCGCTGGCCCCGCAGGTA 0.692000 TSP Lung(18;0.14) 23 26 0 0 1 0 0 TPO 7173 broad.mit.edu 37 2 1520681 1520681 + Missense_Mutation SNP T T C TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:1520681T>C ENST00000345913.4 + 15 2636 c.2545T>C c.(2545-2547)Tgg>Cgg p.W849R TPO_ENST00000497517.2_3'UTR|TPO_ENST00000382201.3_Missense_Mutation_p.W792R|TPO_ENST00000382198.1_Missense_Mutation_p.W676R|TPO_ENST00000346956.3_Missense_Mutation_p.W805R|TPO_ENST00000329066.4_Missense_Mutation_p.W849R|TPO_ENST00000337415.3_Missense_Mutation_p.W849R|TPO_ENST00000349624.3_Missense_Mutation_p.W676R NM_000547.5 NP_000538.3 P07202 PERT_HUMAN thyroid peroxidase 849 cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process cell surface|cytoplasm|integral to plasma membrane calcium ion binding|heme binding|iodide peroxidase activity breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627) all_cancers(51;0.0338) all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12) Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550) TCGGGTGACTTGGATCTCCAT 0.577000 35 56 0 0 1 0 0 LRFN2 57497 broad.mit.edu 37 6 40360180 40360180 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:40360180G>A ENST00000338305.6 - 3 2414 c.1872C>T c.(1870-1872)tcC>tcT p.S624S NM_020737.1 NP_065788.1 Q9ULH4 LRFN2_HUMAN leucine rich repeat and fibronectin type III domain containing 2 624 cell junction|integral to membrane|postsynaptic membrane breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 58 Ovarian(28;0.0418)|Colorectal(47;0.196) CCAGGGAGCTGGAGGAAGAGG 0.751000 5 18 0 0 1 0 0 FBXO18 84893 broad.mit.edu 37 10 5948081 5948081 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:5948081C>T ENST00000379999.5 + 4 496 c.392C>T c.(391-393)tCt>tTt p.S131F FBXO18_ENST00000397269.3_5'UTR|FBXO18_ENST00000470089.1_3'UTR|FBXO18_ENST00000362091.4_Missense_Mutation_p.S80F NM_032807.4 NP_116196.3 Q8NFZ0 FBX18_HUMAN F-box protein, helicase, 18 80 DNA repair nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding NS(2)|breast(2)|kidney(2)|large_intestine(16)|lung(9)|ovary(2)|prostate(3)|skin(3)|stomach(1) 40 AAAAGCAATTCTGTTGGCCAG 0.552000 7 120 0 0 1 0 0 EXOSC10 5394 broad.mit.edu 37 1 11130972 11130972 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:11130972G>A ENST00000376936.4 - 21 2350 c.2301C>T c.(2299-2301)gtC>gtT p.V767V RP4-635E18.7_ENST00000452378.1_RNA|EXOSC10_ENST00000304457.7_Silent_p.V742V|EXOSC10_ENST00000544779.1_3'UTR NM_001001998.1 NP_001001998.1 Q01780 EXOSX_HUMAN exosome component 10 767 CUT catabolic process|histone mRNA catabolic process|maturation of 5.8S rRNA|nuclear polyadenylation-dependent rRNA catabolic process|nuclear retention of unspliced pre-mRNA at the site of transcription|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay cytoplasm|nuclear exosome (RNase complex)|nucleolus|transcriptionally active chromatin 3'-5' exonuclease activity|exoribonuclease activity|identical protein binding|nucleotide binding|protein serine/threonine kinase activity|RNA binding central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|stomach(3)|upper_aerodigestive_tract(1) 27 Ovarian(185;0.249) Lung NSC(185;1.74e-05)|all_lung(284;2.05e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.18e-07)|COAD - Colon adenocarcinoma(227;8.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000315)|Kidney(185;0.000832)|KIRC - Kidney renal clear cell carcinoma(229;0.00269)|READ - Rectum adenocarcinoma(331;0.0526)|STAD - Stomach adenocarcinoma(313;0.202) CCTGCTGTCGGACGGAGATGG 0.542000 79 160 0 0 1 0 0 HM13 81502 broad.mit.edu 37 20 30142559 30142559 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr20:30142559C>T ENST00000335574.5 + 8 859 c.735C>T c.(733-735)ccC>ccT p.P245P HM13_ENST00000340852.5_Silent_p.P245P|HM13_ENST00000398174.3_Silent_p.P245P|HM13_ENST00000376127.3_Silent_p.P203P|HM13_ENST00000492709.1_3'UTR NM_178580.1 NP_848695.1 Q8TCT9 HM13_HUMAN histocompatibility (minor) 13 245 membrane protein proteolysis cell surface|endoplasmic reticulum membrane|integral to membrane|plasma membrane aspartic-type endopeptidase activity|protein binding breast(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|urinary_tract(1) 12 all_cancers(5;3.44e-05)|Lung NSC(7;4.38e-06)|all_lung(7;7.65e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198) all cancers(5;0.000479)|Colorectal(19;0.00202)|COAD - Colon adenocarcinoma(19;0.0264) TGGTGTTTCCCCAGGATCTGC 0.527000 8 102 0 0 1 0 0 UGT3A2 167127 broad.mit.edu 37 5 36035845 36035845 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:36035845C>T ENST00000282507.3 - 7 1628 c.1527G>A c.(1525-1527)atG>atA p.M509I UGT3A2_ENST00000513300.1_Missense_Mutation_p.M475I|UGT3A2_ENST00000545528.1_Missense_Mutation_p.M207I NM_174914.3 NP_777574.2 Q3SY77 UD3A2_HUMAN UDP glycosyltransferase 3 family, polypeptide A2 509 integral to membrane glucuronosyltransferase activity p.M509I(1) NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(3) 43 all_lung(31;0.000179) Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) ACCAGACAGCCATGCCCAGCA 0.582000 26 77 0 0 1 0 0 KIF13B 23303 broad.mit.edu 37 8 28950362 28950362 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:28950362G>A ENST00000524189.1 - 37 4396 c.4358C>T c.(4357-4359)cCt>cTt p.P1453L KIF13B_ENST00000404075.3_5'UTR NM_015254.3 NP_056069.2 Q9NQT8 KI13B_HUMAN kinesin family member 13B 1453 microtubule-based movement|protein targeting|signal transduction|T cell activation cytoplasm|microtubule ATP binding|microtubule motor activity|protein kinase binding endometrium(6)|kidney(1)|lung(20)|urinary_tract(1) 28 Ovarian(32;0.000536) KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181) GGATTTGACAGGATTCAAGTA 0.483000 10 23 0 0 1 0 0 NAT1 9 broad.mit.edu 37 8 18080167 18080167 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:18080167C>T ENST00000539092.1 + 5 1302 c.611C>T c.(610-612)tCt>tTt p.S204F NAT1_ENST00000545197.1_Missense_Mutation_p.S266F|NAT1_ENST00000535084.1_Missense_Mutation_p.S204F|NAT1_ENST00000517492.1_Missense_Mutation_p.S204F|NAT1_ENST00000520546.1_Missense_Mutation_p.S204F|NAT1_ENST00000541942.1_Missense_Mutation_p.S204F|NAT1_ENST00000517441.1_3'UTR|NAT1_ENST00000307719.4_Missense_Mutation_p.S204F|NAT1_ENST00000518029.1_Missense_Mutation_p.S204F NM_001160170.1|NM_001160172.1 NP_001153642.1|NP_001153644.1 P18440 ARY1_HUMAN N-acetyltransferase 1 (arylamine N-acetyltransferase) 204 xenobiotic metabolic process cytosol arylamine N-acetyltransferase activity NS(1)|breast(1)|endometrium(3)|kidney(1)|lung(2)|urinary_tract(1) 9 Colorectal(111;0.0519)|COAD - Colon adenocarcinoma(73;0.208) GATTTTGAGTCTATGAATACA 0.393000 69 85 0 0 1 0 0 FERD3L 222894 broad.mit.edu 37 7 19184868 19184868 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:19184868C>T ENST00000275461.3 - 1 176 c.118G>A c.(118-120)Ggg>Agg p.G40R AC003986.5_ENST00000452700.1_RNA NM_152898.2 NP_690862.1 Q96RJ6 FER3L_HUMAN Fer3-like bHLH transcription factor 40 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding breast(1)|endometrium(4)|large_intestine(8)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2) 35 GCTGGGTCCCCCAAGGAGACC 0.662000 25 58 0 0 1 0 0 ADAM29 11086 broad.mit.edu 37 4 175896679 175896679 + Translation_Start_Site SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:175896679G>A ENST00000359240.3 + 5 673 c.3G>A c.(1-3)atG>atA p.M1I ADAM29_ENST00000445694.1_Start_Codon_SNP_p.M1I|ADAM29_ENST00000404450.4_Start_Codon_SNP_p.M1I|ADAM29_ENST00000514159.1_Start_Codon_SNP_p.M1I NM_001278125.1|NM_014269.4 NP_001265054.1|NP_055084.3 Q9UKF5 ADA29_HUMAN ADAM metallopeptidase domain 29 1 proteolysis|spermatogenesis integral to plasma membrane metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2) 93 Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286) TTTTGAACATGAAGATGTTAC 0.502000 21 64 0 0 1 0 0 COL12A1 1303 broad.mit.edu 37 6 75804880 75804880 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:75804880G>A ENST00000322507.8 - 60 8902 c.8593C>T c.(8593-8595)Cca>Tca p.P2865S COL12A1_ENST00000483888.2_Missense_Mutation_p.P2861S|COL12A1_ENST00000345356.6_Missense_Mutation_p.P1701S|COL12A1_ENST00000416123.2_Missense_Mutation_p.P2789S|COL12A1_ENST00000511023.1_5'UTR NM_004370.5 NP_004361.3 Q99715 COCA1_HUMAN collagen, type XII, alpha 1 2865 Triple-helical region (COL2) with 1 imperfection. cell adhesion|collagen fibril organization|skeletal system development collagen type XII|extracellular space extracellular matrix structural constituent conferring tensile strength breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2) 169 GTGACTCCTGGGGAGCCTGGG 0.498000 23 53 0 0 1 0 0 PSG5 5673 broad.mit.edu 37 19 43683245 43683245 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:43683245C>T ENST00000599812.1 - 3 590 c.495G>A c.(493-495)gtG>gtA p.V165V PSG5_ENST00000404580.1_Intron|PSG5_ENST00000407568.1_Intron|PSG5_ENST00000366175.3_Intron|PSG5_ENST00000407356.1_Intron|PSG5_ENST00000342951.6_Intron Q15238 PSG5_HUMAN pregnancy specific beta-1-glycoprotein 5 165 Ig-like C2-type 1. female pregnancy extracellular region breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(18)|prostate(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 Prostate(69;0.00899) AGGTTAAGATCACAGCCTCCA 0.522000 127 248 0 0 1 0 0 RALGAPB 57148 broad.mit.edu 37 20 37194106 37194106 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr20:37194106C>T ENST00000262879.6 + 25 4086 c.3802C>T c.(3802-3804)Cct>Tct p.P1268S RALGAPB_ENST00000397040.1_Missense_Mutation_p.P1268S|RALGAPB_ENST00000397038.1_Missense_Mutation_p.P1047S|RALGAPB_ENST00000397042.3_Missense_Mutation_p.P1265S Q86X10 RLGPB_HUMAN Ral GTPase activating protein, beta subunit (non-catalytic) 1268 Rap-GAP. activation of Ral GTPase activity intracellular protein heterodimerization activity|Ral GTPase activator activity breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 65 GGTTCCTTCTCCTGTGGAGTC 0.378000 68 165 0 0 1 0 0 UGT3A1 133688 broad.mit.edu 37 5 35957307 35957307 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:35957307G>A ENST00000274278.3 - 5 1415 c.1058C>T c.(1057-1059)cCt>cTt p.P353L UGT3A1_ENST00000513233.1_5'UTR|UGT3A1_ENST00000507113.1_Missense_Mutation_p.P319L|UGT3A1_ENST00000503189.1_Missense_Mutation_p.P353L NM_152404.3 NP_689617.3 Q6NUS8 UD3A1_HUMAN UDP glycosyltransferase 3 family, polypeptide A1 353 integral to membrane glucuronosyltransferase activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4) 46 all_lung(31;0.000197) Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) GTCACTCTGAGGAAGCCAGTC 0.498000 20 58 0 0 1 0 0 NCF2 4688 broad.mit.edu 37 1 183542397 183542397 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:183542397G>A ENST00000413720.1 - 4 671 c.397C>T c.(397-399)Cct>Tct p.P133S NCF2_ENST00000367535.3_Missense_Mutation_p.P178S|NCF2_ENST00000367536.1_Missense_Mutation_p.P178S|NCF2_ENST00000418089.1_Intron NM_001190794.1 NP_001177723.1 P19878 NCF2_HUMAN neutrophil cytosolic factor 2 178 cellular defense response|innate immune response|respiratory burst|superoxide anion generation NADPH oxidase complex|nucleolus electron carrier activity|protein C-terminus binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 30 TTGCCCACAGGGATCACCACT 0.517000 144 164 0 0 1 0 0 BRDT 676 broad.mit.edu 37 1 92446487 92446487 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:92446487C>T ENST00000370389.2 + 10 2207 c.1283C>T c.(1282-1284)tCt>tTt p.S428F BRDT_ENST00000394530.3_Missense_Mutation_p.S455F|BRDT_ENST00000399546.2_Missense_Mutation_p.S501F|BRDT_ENST00000402388.1_Missense_Mutation_p.S501F|BRDT_ENST00000362005.3_Missense_Mutation_p.S501F NM_001242810.1 NP_001229739.1 Q58F21 BRDT_HUMAN bromodomain, testis-specific 501 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein serine/threonine kinase activity|transcription coactivator activity breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2) 56 all_lung(203;0.00531)|Lung NSC(277;0.0194) all cancers(265;0.0228)|Epithelial(280;0.133) GGTCTAAAATCTGAAGATGAA 0.328000 22 29 0 0 1 0 0 ZNRF4 148066 broad.mit.edu 37 19 5455879 5455879 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:5455879C>T ENST00000222033.4 + 1 454 c.377C>T c.(376-378)cCc>cTc p.P126L NM_181710.3 NP_859061.3 Q8WWF5 ZNRF4_HUMAN zinc and ring finger 4 126 PA. integral to membrane zinc ion binding NS(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 16 UCEC - Uterine corpus endometrioid carcinoma (162;0.0002) CCCCTGGCCCCCGAGGGCATA 0.692000 43 128 0 0 1 0 0 C12orf40 283461 broad.mit.edu 37 12 40076912 40076912 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:40076912G>A ENST00000324616.5 + 8 1340 c.1186G>A c.(1186-1188)Gat>Aat p.D396N C12orf40_ENST00000405531.3_Missense_Mutation_p.D396N|C12orf40_ENST00000398716.1_Missense_Mutation_p.D319N NM_001031748.2 NP_001026918.2 Q86WS4 CL040_HUMAN chromosome 12 open reading frame 40 396 breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(6)|prostate(1)|skin(2) 38 TTTTGAGAACGATTACTACCC 0.289000 23 42 0 0 1 0 0 TTLL7 79739 broad.mit.edu 37 1 84399413 84399413 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:84399413G>A ENST00000260505.8 - 9 1302 c.925C>T c.(925-927)Cat>Tat p.H309Y TTLL7_ENST00000477524.1_5'UTR NM_024686.4 NP_078962.4 Q6ZT98 TTLL7_HUMAN tubulin tyrosine ligase-like family, member 7 309 TTL. cell differentiation|nervous system development|protein modification process cilium|dendrite|microtubule basal body|perikaryon tubulin-tyrosine ligase activity kidney(1)|large_intestine(8)|lung(15)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 29 all cancers(265;0.0126)|Epithelial(280;0.0372)|OV - Ovarian serous cystadenocarcinoma(397;0.16) TGCAGGACATGAGGTTCTGCT 0.388000 44 91 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179577224 179577224 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:179577224G>A ENST00000589042.1 - 95 27649 c.27425C>T c.(27424-27426)tCg>tTg p.S9142L TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.S8825L|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.S7898L|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000431752.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 8825 Ig-like 74. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) CCAGGTAACCGAAATGGGAGG 0.423000 23 41 0 0 1 0 0 KCNK9 51305 broad.mit.edu 37 8 140630927 140630927 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:140630927C>T ENST00000520439.1 - 2 762 c.699G>A c.(697-699)acG>acA p.T233T KCNK9_ENST00000303015.1_Silent_p.T233T Q9NPC2 KCNK9_HUMAN potassium channel, subfamily K, member 9 233 integral to membrane|membrane fraction potassium channel activity|voltage-gated ion channel activity NS(1)|endometrium(9)|kidney(1)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1) 43 all_cancers(97;3.94e-14)|all_epithelial(106;4.81e-13)|Lung NSC(106;8.18e-05)|all_lung(105;0.00015)|Ovarian(258;0.00235)|Acute lymphoblastic leukemia(118;0.155) Ovarian(118;0.134) BRCA - Breast invasive adenocarcinoma(115;0.0855) CCCCGATGACCGTCAGCCCCA 0.592000 30 85 0 0 1 0 0 RGS5 8490 broad.mit.edu 37 1 163117203 163117203 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:163117203G>A ENST00000313961.5 - 5 752 c.475C>T c.(475-477)Cat>Tat p.H159Y RGS5_ENST00000530507.1_Missense_Mutation_p.H163Y|RGS5_ENST00000367903.3_Missense_Mutation_p.H179Y|RGS5_ENST00000527988.1_Missense_Mutation_p.H51Y NM_001254749.1|NM_003617.3 NP_001241678.1|NP_003608.1 O15539 RGS5_HUMAN regulator of G-protein signaling 5 159 RGS. negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway cytoplasm|plasma membrane GTPase activator activity|signal transducer activity autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(1)|lung(12)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 20 LUSC - Lung squamous cell carcinoma(543;0.187) ATCAGGGCATGGATTCTTTTC 0.458000 61 68 0 0 1 0 0 N4BP2 55728 broad.mit.edu 37 4 40122671 40122671 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:40122671C>T ENST00000261435.6 + 9 3356 c.2940C>T c.(2938-2940)acC>acT p.T980T NM_018177.4 NP_060647.2 Q86UW6 N4BP2_HUMAN NEDD4 binding protein 2 980 cytoplasm ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1) 60 TTACTTTTACCAATAGTGCAC 0.428000 25 68 0 0 1 0 0 KIF26A 26153 broad.mit.edu 37 14 104642024 104642024 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr14:104642024G>A ENST00000315264.7 + 11 2860 c.2482G>A c.(2482-2484)Gag>Aag p.E828K KIF26A_ENST00000423312.2_Missense_Mutation_p.E967K Q9ULI4 KI26A_HUMAN kinesin family member 26A 967 blood coagulation|enteric nervous system development|microtubule-based movement|negative regulation of signal transduction|regulation of cell growth by extracellular stimulus cytosol|microtubule ATP binding|microtubule binding|microtubule motor activity autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2) 21 all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767) Epithelial(46;0.152) Epithelial(152;0.161) AGCCCCAGAAGAGCCTGGGGG 0.697000 15 14 0 0 1 0 0 PSG7 5676 broad.mit.edu 37 19 43428785 43428785 + RNA SNP T T C TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:43428785T>C ENST00000406070.2 - 0 1531 NM_002783.2 NP_002774.2 Q13046 PSG7_HUMAN pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene) female pregnancy extracellular region Prostate(69;0.00682) gcagctgttgttatggtgttg 0.403000 3 13 0 0 1 0 0 SCAND3 114821 broad.mit.edu 37 6 28540528 28540528 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:28540528C>T ENST00000452236.2 - 4 3755 c.3138G>A c.(3136-3138)atG>atA p.M1046I NM_052923.1 NP_443155.1 Q6R2W3 SCND3_HUMAN SCAN domain containing 3 1046 DNA integration|viral reproduction nucleus DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity p.M1046I(1) NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3) 71 gatcagcttccatattatcac 0.299000 34 120 0 0 1 0 0 KLHL4 56062 broad.mit.edu 37 X 86887355 86887355 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chrX:86887355G>A ENST00000373119.4 + 7 1615 c.1470G>A c.(1468-1470)ttG>ttA p.L490L KLHL4_ENST00000373114.4_Silent_p.L490L NM_019117.4 NP_061990.2 Q9C0H6 KLHL4_HUMAN kelch-like family member 4 490 cytoplasm|microtubule cytoskeleton|nucleolus actin binding NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1) 67 TAAAAACTTTGAATACAGTGG 0.423000 11 36 0 0 1 0 0 KIF14 9928 broad.mit.edu 37 1 200522733 200522733 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:200522733G>A ENST00000367350.4 - 30 5168 c.4730C>T c.(4729-4731)tCt>tTt p.S1577F NM_014875.2 NP_055690.1 Q15058 KIF14_HUMAN kinesin family member 14 1577 Required for CIT-binding. microtubule-based movement cytoplasm|microtubule|nucleus|spindle ATP binding|microtubule motor activity|protein binding NS(1)|breast(5)|central_nervous_system(2)|endometrium(8)|kidney(8)|large_intestine(15)|lung(13)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1) 61 AAAGAGGAGAGACTTAGCTAG 0.383000 34 86 0 0 1 0 0 ASIC3 9311 broad.mit.edu 37 7 150746502 150746502 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:150746502C>T ENST00000357922.4 + 1 1124 c.530C>T c.(529-531)aCc>aTc p.T177I ASIC3_ENST00000297512.8_Missense_Mutation_p.T177I|ASIC3_ENST00000349064.5_Missense_Mutation_p.T177I NM_020322.3 NP_064718.1 Q9UHC3 ACCN3_HUMAN acid-sensing (proton-gated) ion channel 3 177 sensory perception|signal transduction cytoplasm|integral to plasma membrane ligand-gated sodium channel activity GAGAACTTCACCACGGTGAGC 0.617000 56 140 0 0 1 0 0 PKHD1L1 93035 broad.mit.edu 37 8 110416841 110416841 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:110416841C>T ENST00000378402.5 + 15 1536 c.1432C>T c.(1432-1434)Ctg>Ttg p.L478L NM_177531.4 NP_803875.2 Q86WI1 PKHL1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 478 immune response cytosol|extracellular space|integral to membrane receptor activity NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4) 263 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) TGATGTTGGACTGTACCAGTA 0.353000 HNSCC(38;0.096) 9 26 0 0 1 0 0 IL7R 3575 broad.mit.edu 37 5 35876102 35876102 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:35876102C>T ENST00000303115.3 + 8 1023 c.894C>T c.(892-894)ttC>ttT p.F298F IL7R_ENST00000343305.4_3'UTR NM_002185.3 NP_002176.2 P16871 IL7RA_HUMAN interleukin 7 receptor 298 immune response|regulation of DNA recombination extracellular region|integral to membrane antigen binding|interleukin-7 receptor activity NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3) 126 all_lung(31;0.00015) Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202) ATGTGAGTTTCAATCCTGAAA 0.418000 """Mis, O""" """ALL, ETP ALL""" Severe combined immune deficiency 26 91 0 0 1 0 0 CA11 770 broad.mit.edu 37 19 49143498 49143498 + Missense_Mutation SNP A A T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:49143498A>T ENST00000084798.4 - 4 1004 c.325T>A c.(325-327)Ttc>Atc p.F109I SEC1P_ENST00000430145.2_RNA NM_001217.3 NP_001208.2 O75493 CAH11_HUMAN carbonic anhydrase XI 109 extracellular region breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8) 14 all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) OV - Ovarian serous cystadenocarcinoma(262;0.000103)|all cancers(93;0.000119)|GBM - Glioblastoma multiforme(486;0.00634)|Epithelial(262;0.016) GCAGGCAGGAAGGAGACATGT 0.607000 35 112 0 0 1 0 0 KLHL2 11275 broad.mit.edu 37 4 166243211 166243211 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:166243211G>A ENST00000226725.6 + 15 2040 c.1781G>A c.(1780-1782)tGa>tAa p.*594* KLHL2_ENST00000421009.2_Silent_p.*497*|KLHL2_ENST00000514860.1_Silent_p.*598*|KLHL2_ENST00000538127.1_Silent_p.*506*|KLHL2_ENST00000506761.1_Silent_p.*428*|KLHL2_ENST00000509028.1_3'UTR NM_007246.3 NP_009177.3 O95198 KLHL2_HUMAN kelch-like family member 2 0 intracellular protein transport actin cytoskeleton|cytoplasm actin binding|transporter activity endometrium(3)|large_intestine(5)|lung(4)|prostate(1)|urinary_tract(1) 14 all_hematologic(180;0.221) GBM - Glioblastoma multiforme(119;2.94e-27)|COAD - Colon adenocarcinoma(41;1.4e-05)|Kidney(143;4.95e-05)|KIRC - Kidney renal clear cell carcinoma(143;0.000927) AAACCATTATGAGCCTGAAGG 0.393000 46 87 0 0 1 0 0 PLEKHS1 79949 broad.mit.edu 37 10 115531843 115531843 + Silent SNP T T C TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:115531843T>C ENST00000361048.1 + 8 994 c.667T>C c.(667-669)Tta>Cta p.L223L PLEKHS1_ENST00000354462.3_5'UTR|PLEKHS1_ENST00000369312.4_Silent_p.L135L|PLEKHS1_ENST00000369310.3_Silent_p.L217L|PLEKHS1_ENST00000369309.1_Silent_p.L37L NM_024889.4 NP_079165.3 pleckstrin homology domain containing, family S member 1 AAGTGTTCTTTTAGAGGTAAC 0.383000 8 147 0 0 1 0 0 OR52E2 119678 broad.mit.edu 37 11 5080367 5080367 + Missense_Mutation SNP A A G TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:5080367A>G ENST00000321522.2 - 1 490 c.491T>C c.(490-492)cTt>cCt p.L164P NM_001005164.2 NP_001005164.2 Q8NGJ4 O52E2_HUMAN olfactory receptor, family 52, subfamily E, member 2 164 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|lung(13)|ovary(2)|skin(3) 20 Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086) Epithelial(150;1.03e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.191) CCGCAATATAAGAAGTATAGA 0.443000 13 12 0 0 1 0 0 GALNTL6 442117 broad.mit.edu 37 4 173852339 173852339 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:173852339G>A ENST00000506823.1 + 9 1726 c.1069G>A c.(1069-1071)Gat>Aat p.D357N GALNTL6_ENST00000508122.1_Missense_Mutation_p.D340N NM_001034845.2 NP_001030017.2 Q49A17 GLTL6_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 6 357 Catalytic subdomain B. Golgi membrane|integral to membrane metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(2)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(2) 45 AGAAATGTTTGATGTTCCATG 0.403000 43 135 0 0 1 0 0 DPYD 1806 broad.mit.edu 37 1 97771768 97771768 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:97771768G>A ENST00000370192.3 - 17 2244 c.2144C>T c.(2143-2145)aCt>aTt p.T715I DPYD-AS1_ENST00000422980.1_RNA NM_000110.3 NP_000101.2 Q12882 DPYD_HUMAN dihydropyrimidine dehydrogenase 715 'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process cytosol 4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1) 83 all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994) Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216) Capecitabine(DB01101)|Enfuvirtide(DB00109) CACAATATCAGTGACATTTGG 0.463000 77 232 0 0 1 0 0 KCNK16 83795 broad.mit.edu 37 6 39282879 39282879 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:39282879C>T ENST00000373229.5 - 6 842 c.829G>A c.(829-831)Gcg>Acg p.A277T KCNK16_ENST00000425054.2_3'UTR|KCNK16_ENST00000373227.4_Missense_Mutation_p.A230T|KCNK16_ENST00000507712.1_Missense_Mutation_p.A165T NM_032115.3 NP_115491.1 Q96T55 KCNKG_HUMAN potassium channel, subfamily K, member 16 277 integral to membrane potassium channel activity|voltage-gated ion channel activity large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2) 13 CCTGGAGCCGCCTTGGCTCCA 0.577000 16 271 0 0 1 0 0 TCOF1 6949 broad.mit.edu 37 5 149771142 149771142 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:149771142C>T ENST00000451292.1 + 21 3438 c.3330C>T c.(3328-3330)acC>acT p.T1110T TCOF1_ENST00000445265.2_Silent_p.T996T|TCOF1_ENST00000504761.2_Silent_p.T1073T|TCOF1_ENST00000323668.7_Silent_p.T996T|TCOF1_ENST00000439160.2_Intron|TCOF1_ENST00000377797.3_Silent_p.T1073T|TCOF1_ENST00000513346.1_Intron Q13428 TCOF_HUMAN Treacher Collins-Franceschetti syndrome 1 1073 skeletal system development nucleolus protein binding|transporter activity NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|skin(1) 35 all_hematologic(541;0.224) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) TCCCACTGACCCAGGCTGCCC 0.617000 24 81 0 0 1 0 0 LIPC 3990 broad.mit.edu 37 15 58838106 58838106 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr15:58838106G>A ENST00000414170.3 + 6 1027 c.740G>A c.(739-741)gGg>gAg p.G247E LIPC_ENST00000433326.2_Missense_Mutation_p.G186E|LIPC_ENST00000356113.6_Missense_Mutation_p.G247E|LIPC_ENST00000299022.5_Missense_Mutation_p.G247E P11150 LIPC_HUMAN lipase, hepatic 247 cholesterol homeostasis|chylomicron remnant clearance|fatty acid biosynthetic process|high-density lipoprotein particle remodeling|intermediate-density lipoprotein particle remodeling|low-density lipoprotein particle remodeling|phosphatidylcholine catabolic process|triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle remodeling high-density lipoprotein particle apolipoprotein binding|heparin binding|low-density lipoprotein particle binding|phospholipase activity|triglyceride lipase activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 Colorectal(260;0.215) GBM - Glioblastoma multiforme(80;0.00213)|all cancers(107;0.00548) TATCCCAACGGGGGCTCCTTC 0.557000 48 102 0 0 1 0 0 KRT16P2 400578 broad.mit.edu 37 17 16735099 16735099 + RNA SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:16735099C>T ENST00000579062.1 - 0 354 CCGCAATGATCTGGAGTGGGA 0.537000 6 5 0 0 1 0 0 CLTCL1 8218 broad.mit.edu 37 22 19213142 19213142 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr22:19213142G>A ENST00000263200.10 - 13 2034 c.1962C>T c.(1960-1962)ttC>ttT p.F654F CLTCL1_ENST00000353891.5_Silent_p.F654F|CLTCL1_ENST00000427926.1_Silent_p.F654F NM_007098.3 NP_009029.3 P53675 CLH2_HUMAN clathrin, heavy chain-like 1 654 Heavy chain arm.|Proximal segment. anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network protein binding|signal transducer activity|structural molecule activity breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 49 Colorectal(54;0.0993) AGGAGCCAAAGAAATTGACAA 0.473000 T ? ALCL 3 11 0 0 1 0 0 ST6GAL1 6480 broad.mit.edu 37 3 186761079 186761079 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:186761079C>T ENST00000169298.3 + 4 1262 c.588C>T c.(586-588)tcC>tcT p.S196S ST6GAL1_ENST00000448044.1_Silent_p.S196S|ST6GAL1_ENST00000457772.2_Intron NM_173216.2 NP_775323.1 P15907 SIAT1_HUMAN ST6 beta-galactosamide alpha-2,6-sialyltranferase 1 196 humoral immune response|post-translational protein modification|protein N-linked glycosylation via asparagine extracellular region|Golgi cisterna membrane|integral to Golgi membrane beta-galactoside alpha-2,6-sialyltransferase activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1) 7 all_cancers(143;2.33e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;8.53e-19) GBM - Glioblastoma multiforme(93;0.0939) TGAAGTCCTCCCAACTAGGCA 0.542000 9 179 0 0 1 0 0 ENTPD3 956 broad.mit.edu 37 3 40457524 40457524 + Missense_Mutation SNP G G A rs34266806 byFrequency TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:40457524G>A ENST00000301825.3 + 7 909 c.791G>A c.(790-792)cGg>cAg p.R264Q ENTPD3_ENST00000456402.1_Missense_Mutation_p.R264Q|ENTPD3_ENST00000445129.1_Missense_Mutation_p.R264Q|ENTPD3-AS1_ENST00000425156.1_RNA|ENTPD3-AS1_ENST00000439293.1_RNA|ENTPD3-AS1_ENST00000452768.1_RNA NM_001248.2 NP_001239.2 O75355 ENTP3_HUMAN ectonucleoside triphosphate diphosphohydrolase 3 264 R -> Q (in dbSNP:rs34266806). integral to membrane ATP binding|hydrolase activity endometrium(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 KIRC - Kidney renal clear cell carcinoma(284;0.0605)|Kidney(284;0.0758) TGCTATGGCCGGAATGAGGCT 0.547000 16 39 0 0 1 0 0 A2ML1 144568 broad.mit.edu 37 12 8990109 8990109 + Nonsense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:8990109C>T ENST00000299698.7 + 8 982 c.802C>T c.(802-804)Cga>Tga p.R268* NM_144670.4 NP_653271.2 B3KVV6 B3KVV6_HUMAN alpha-2-macroglobulin-like 1 112 extracellular space endopeptidase inhibitor activity NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1) 80 TTACTGGTATCGAGAGGTGGA 0.493000 39 62 0 0 1 0 0 FBLN2 2199 broad.mit.edu 37 3 13661236 13661236 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:13661236G>A ENST00000404922.3 + 8 2179 c.2060G>A c.(2059-2061)gGa>gAa p.G687E FBLN2_ENST00000535798.1_Missense_Mutation_p.G713E|FBLN2_ENST00000295760.7_Missense_Mutation_p.G687E|FBLN2_ENST00000492059.1_Missense_Mutation_p.G687E NM_001004019.1 NP_001004019.1 P98095 FBLN2_HUMAN fibulin 2 687 EGF-like 2. proteinaceous extracellular matrix calcium ion binding|extracellular matrix structural constituent haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1) 24 UCEC - Uterine corpus endometrioid carcinoma (1;0.00416) CCAGACAATGGACCCTGCAAG 0.572000 9 38 0 0 1 0 0 RECQL5 9400 broad.mit.edu 37 17 73625529 73625529 + Silent SNP A A G TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:73625529A>G ENST00000317905.5 - 16 2133 c.1974T>C c.(1972-1974)ggT>ggC p.G658G RECQL5_ENST00000423245.2_Silent_p.G631G|RECQL5_ENST00000443199.2_5'UTR NM_004259.6 NP_004250.4 O94762 RECQ5_HUMAN RecQ protein-like 5 658 DNA recombination|DNA repair cytoplasm|nuclear membrane|nucleolus|nucleoplasm ATP binding|ATP-dependent helicase activity|DNA helicase activity|nucleic acid binding breast(1)|cervix(3)|endometrium(3)|kidney(7)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 36 all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09) all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112) CTTTGGGGAAACCAGCTCCCA 0.642000 Other identified genes with known or suspected DNA repair function 19 98 0 0 1 0 0 SPDEF 25803 broad.mit.edu 37 6 34507088 34507088 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:34507088C>T ENST00000374037.3 - 5 1182 c.768G>A c.(766-768)aaG>aaA p.K256K SPDEF_ENST00000544425.1_Silent_p.K240K NM_012391.2 NP_036523.1 O95238 SPDEF_HUMAN SAM pointed domain containing ETS transcription factor 256 negative regulation of survival gene product expression|negative regulation of transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(3) 15 GTAGCAACTCCTTGAGGAACT 0.627000 87 282 0 0 1 0 0 PDE1C 5137 broad.mit.edu 37 7 31855767 31855767 + Splice_Site SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:31855767C>T ENST00000396184.3 - 16 1788 c.1582_splice c.e16-1 p.E528_splice PDE1C_ENST00000396193.1_Splice_Site_p.E588_splice|PDE1C_ENST00000321453.7_Splice_Site_p.E528_splice|PDE1C_ENST00000396191.1_Splice_Site_p.E528_splice|PDE1C_ENST00000479980.1_5'UTR|PDE1C_ENST00000396182.2_Splice_Site_p.E528_splice NM_005020.2 NP_005011.1 Q14123 PDE1C_HUMAN phosphodiesterase 1C, calmodulin-dependent 70kDa 528 activation of phospholipase C activity|nerve growth factor receptor signaling pathway cytosol calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 81 GBM - Glioblastoma multiforme(11;0.216) TGGCCTTCTCCTCTGCATCCA 0.502000 54 112 0 0 1 0 0 CACNG5 27091 broad.mit.edu 37 17 64880907 64880907 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:64880907C>T ENST00000169565.3 + 4 699 c.699C>T c.(697-699)ttC>ttT p.F233F CACNG5_ENST00000307139.3_Intron|CACNG5_ENST00000533854.1_Intron Q9UF02 CCG5_HUMAN calcium channel, voltage-dependent, gamma subunit 5 0 SAGVMSVYLFMKRYTAEDMYRPHPGFYRPRLSNCSDYSGQF LHPDAWVRGRSPSDISSEASLQMNSNYPALLKCPDYDQMSS SPC -> VKPVTLSMDRLGLGTAPLSRGEWGWGRRDIPQPF WTPDHPLYFPSSSQNVSLSYLSGSPPARMSPGPCSCPHVHF PPHSSCVLCRPQPREMRQAPAASPSSAVFSL (in Ref. 1; AAF03089). regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|postsynaptic density|postsynaptic membrane voltage-gated calcium channel activity NS(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2) 24 BRCA - Breast invasive adenocarcinoma(6;1.61e-08) CACTCTACTTCCCTTCCTCAT 0.622000 41 127 0 0 1 0 0 OR5W2 390148 broad.mit.edu 37 11 55681511 55681511 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:55681511G>A ENST00000344514.1 - 1 547 c.548C>T c.(547-549)cCt>cTt p.P183L NM_001001960.1 NP_001001960.1 Q8NH69 OR5W2_HUMAN olfactory receptor, family 5, subfamily W, member 2 183 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(28)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 49 TAATAAGAGAGGAGGGATATC 0.408000 37 66 0 0 1 0 0 TRAV13-1 28671 broad.mit.edu 37 14 22337432 22337432 + RNA SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr14:22337432G>A ENST00000390436.2 + 0 246 AAATGTGGGCGAAAAGAAAGA 0.428000 77 187 0 0 1 0 0 MATK 4145 broad.mit.edu 37 19 3778243 3778243 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:3778243G>A ENST00000310132.6 - 14 1860 c.1462C>T c.(1462-1464)Cca>Tca p.P488S MATK_ENST00000585778.1_Missense_Mutation_p.P487S|MATK_ENST00000395040.2_Missense_Mutation_p.P447S|MATK_ENST00000395045.2_Missense_Mutation_p.P489S NM_139355.2 NP_647612.1 P42679 MATK_HUMAN megakaryocyte-associated tyrosine kinase 488 ARRPPFRKLAEKLARELRSAGAPASVSGQDADGSTSPRSQE P -> PAGHPSANWPRSWPGSYAVQVPQPPSQGRTPTVHLA PKPGALTPPGGPWPQRTERVESAAWGH (in Ref. 1; AAA16703). cell proliferation|mesoderm development|positive regulation of cell proliferation cytoplasm|nucleus ATP binding|non-membrane spanning protein tyrosine kinase activity central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(2)|stomach(2)|urinary_tract(1) 26 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18) ACGGAGGCTGGGGCACCTGCA 0.726000 12 29 0 0 1 0 0 MS4A4A 51338 broad.mit.edu 37 11 60070120 60070120 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:60070120C>T ENST00000355131.3 + 6 642 c.419C>T c.(418-420)tCa>tTa p.S140L MS4A4A_ENST00000395016.3_Missense_Mutation_p.S140L|MS4A4A_ENST00000337908.4_Missense_Mutation_p.S159L|MS4A4A_ENST00000532114.1_Intron NM_024021.3 NP_076926.2 Q96JQ5 M4A4A_HUMAN membrane-spanning 4-domains, subfamily A, member 4A 159 integral to membrane receptor activity autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(12)|prostate(1)|skin(4) 23 GCGTTTTATTCATTCCATCAC 0.408000 42 81 0 0 1 0 0 GPR139 124274 broad.mit.edu 37 16 20043775 20043775 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr16:20043775G>A ENST00000570682.1 - 2 644 c.344C>T c.(343-345)tCc>tTc p.S115F NM_001002911.2 NP_001002911.1 Q6DWJ6 GP139_HUMAN G protein-coupled receptor 139 115 integral to membrane|plasma membrane autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1) 30 AATCCATATGGAGGTGTGGAT 0.498000 9 85 0 0 1 0 0 IGLV2-11 28816 broad.mit.edu 37 22 23135382 23135382 + RNA SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr22:23135382C>T ENST00000390314.2 + 0 286 GGTCCCTGATCGCTTCTCTGG 0.542000 150 351 0 0 1 0 0 CAPN6 827 broad.mit.edu 37 X 110494883 110494883 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chrX:110494883G>A ENST00000324068.1 - 6 954 c.787C>T c.(787-789)Cgt>Tgt p.R263C CAPN6_ENST00000541758.1_Missense_Mutation_p.R8C NM_014289.3 NP_055104.2 Q9Y6Q1 CAN6_HUMAN calpain 6 263 Calpain catalytic. microtubule bundle formation|proteolysis|regulation of cytoskeleton organization perinuclear region of cytoplasm|spindle microtubule calcium-dependent cysteine-type endopeptidase activity|microtubule binding cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(25)|ovary(3)|skin(3)|upper_aerodigestive_tract(1) 47 TCTCCAAGACGAATTTTGCGA 0.493000 246 100 0 0 1 0 0 GIMAP8 155038 broad.mit.edu 37 7 150171303 150171303 + Missense_Mutation SNP A A C TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:150171303A>C ENST00000307271.3 + 4 1460 c.886A>C c.(886-888)Aag>Cag p.K296Q NM_175571.2 NP_783161.1 Q8ND71 GIMA8_HUMAN GTPase, IMAP family member 8 296 endoplasmic reticulum|Golgi apparatus|mitochondrion GTP binding breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1) 62 OV - Ovarian serous cystadenocarcinoma(82;0.0218) UCEC - Uterine corpus endometrioid carcinoma (81;0.17) CTGGAGAAAAAAGAAAGTTTC 0.468000 59 140 0 0 1 0 0 FTHL17 53940 broad.mit.edu 37 X 31089939 31089939 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chrX:31089939C>T ENST00000359202.3 - 1 231 c.132G>A c.(130-132)cgG>cgA p.R44R NM_031894.2 NP_114100.1 Q9BXU8 FHL17_HUMAN ferritin, heavy polypeptide-like 17 44 Ferritin-like diiron. cellular iron ion homeostasis|iron ion transport ferric iron binding|oxidoreductase activity endometrium(2)|large_intestine(2)|liver(1)|lung(13)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 23 CCACGTCGTCCCGGTTGAAGT 0.577000 64 40 0 0 1 0 0 TMEM132C 92293 broad.mit.edu 37 12 128899944 128899944 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:128899944C>T ENST00000435159.2 + 2 753 c.753C>T c.(751-753)gcC>gcT p.A251A NM_001136103.2 NP_001129575.2 Q8N3T6 T132C_HUMAN transmembrane protein 132C 251 integral to membrane breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|lung(2)|prostate(2)|skin(1) 13 AGGGCAACGCCATCCGTCCAG 0.662000 4 9 0 0 1 0 0 PCDHB14 56122 broad.mit.edu 37 5 140603530 140603530 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:140603530C>T ENST00000239449.4 + 1 453 c.453C>T c.(451-453)acC>acT p.T151T PCDHB14_ENST00000515856.2_5'UTR NM_018934.2 NP_061757.1 Q9Y5E9 PCDBE_HUMAN 151 Cadherin 2. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1) 49 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TTGGAGCTACCTTTCTAATGG 0.393000 49 104 0 0 1 0 0 NUP107 57122 broad.mit.edu 37 12 69127276 69127276 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:69127276C>T ENST00000229179.4 + 24 2478 c.2146C>T c.(2146-2148)Cct>Tct p.P716S NUP107_ENST00000401003.3_Intron|NUP107_ENST00000378905.2_Missense_Mutation_p.P477S|NUP107_ENST00000539906.1_Missense_Mutation_p.P687S NM_020401.2 NP_065134.1 P57740 NU107_HUMAN nucleoporin 107kDa 716 carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction condensed chromosome kinetochore|cytosol|Nup107-160 complex nucleocytoplasmic transporter activity|protein binding NUP107/LGR5(2) breast(3)|endometrium(4)|kidney(4)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(2) 39 Breast(13;6.25e-06) Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694) TGTGAAAATTCCTCAGGATTC 0.378000 40 80 0 0 1 0 0 CADM4 199731 broad.mit.edu 37 19 44129384 44129384 + Nonsense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:44129384C>T ENST00000222374.2 - 7 822 c.774G>A c.(772-774)tgG>tgA p.W258* CADM4_ENST00000593506.1_5'UTR NM_145296.1 NP_660339.1 Q8NFZ8 CADM4_HUMAN cell adhesion molecule 4 258 Ig-like C2-type 2. cell adhesion integral to membrane endometrium(2)|large_intestine(3)|lung(4)|prostate(1)|skin(2) 12 Prostate(69;0.0199) TCCCGCGGTTCCAGCGGATCT 0.577000 24 40 0 0 1 0 0 PAOX 196743 broad.mit.edu 37 10 135202527 135202527 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:135202527G>A ENST00000278060.5 + 5 1272 c.1189G>A c.(1189-1191)Gaa>Aaa p.E397K PAOX_ENST00000368539.4_3'UTR|PAOX_ENST00000368535.2_3'UTR|PAOX_ENST00000357296.3_Missense_Mutation_p.E397K|PAOX_ENST00000480071.2_Missense_Mutation_p.M312I NM_152911.2 NP_690875.1 Q6QHF9 PAOX_HUMAN polyamine oxidase (exo-N4-amino) 535 polyamine biosynthetic process|xenobiotic metabolic process peroxisomal matrix polyamine oxidase activity cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|urinary_tract(2) 23 all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203) all cancers(32;4.39e-07)|OV - Ovarian serous cystadenocarcinoma(35;1.21e-06)|Epithelial(32;1.94e-06) TCTGTCGGATGAAGAAGTACT 0.537000 135 303 0 0 1 0 0 FRY 10129 broad.mit.edu 37 13 32818276 32818276 + Missense_Mutation SNP A A C TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr13:32818276A>C ENST00000380250.3 + 47 7281 c.6785A>C c.(6784-6786)cAg>cCg p.Q2262P NM_023037.2 NP_075463.2 Q5TBA9 FRY_HUMAN furry homolog (Drosophila) 2262 regulation of transcription, DNA-dependent|transcription, DNA-dependent integral to membrane NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 132 Lung SC(185;0.0271) all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104) CCTGTCAAACAGTTCAATGTG 0.463000 26 85 0 0 1 0 0 KAZN 23254 broad.mit.edu 37 1 15386773 15386773 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:15386773G>A ENST00000376030.2 + 6 1316 c.1022G>A c.(1021-1023)cGa>cAa p.R341Q KAZN_ENST00000400797.3_Missense_Mutation_p.R247Q|KAZN_ENST00000361144.5_Missense_Mutation_p.R335Q|KAZN_ENST00000503743.1_Missense_Mutation_p.R341Q|KAZN_ENST00000400798.2_Missense_Mutation_p.R247Q|KAZN_ENST00000422387.2_Missense_Mutation_p.R341Q NM_201628.2 NP_963922.2 Q674X7 KAZRN_HUMAN kazrin, periplakin interacting protein 341 keratinization cornified envelope|cytoplasm|desmosome|nucleus central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(1)|prostate(2) 25 AACTCCCCTCGACACCGGACA 0.697000 92 191 0 0 1 0 0 EGFR 1956 broad.mit.edu 37 7 55224516 55224516 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:55224516G>A ENST00000275493.2 + 10 1375 c.1198G>A c.(1198-1200)Gaa>Aaa p.E400K EGFR_ENST00000420316.2_Missense_Mutation_p.E400K|EGFR_ENST00000455089.1_Missense_Mutation_p.E355K|EGFR_ENST00000344576.2_Missense_Mutation_p.E400K|EGFR_ENST00000442591.1_Missense_Mutation_p.E400K|EGFR_ENST00000342916.3_Missense_Mutation_p.E400K|EGFR_ENST00000454757.2_Missense_Mutation_p.E347K NM_005228.3 NP_005219.2 P00533 EGFR_HUMAN epidermal growth factor receptor 400 activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6) 14110 all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318) GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607) Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072) AACCGTAAAGGAAATCACAGG 0.378000 8 """A, O, Mis""" """glioma, NSCLC""" NSCLC Lung Cancer, Familial Clustering of TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08) 29 62 0 0 1 0 0 SYT13 57586 broad.mit.edu 37 11 45265724 45265724 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:45265724C>T ENST00000020926.3 - 6 1271 c.1160G>A c.(1159-1161)aGc>aAc p.S387N NM_001247987.1|NM_020826.2 NP_001234916.1|NP_065877.1 Q7L8C5 SYT13_HUMAN synaptotagmin XIII 387 C2 2. transport vesicle breast(1)|large_intestine(3)|lung(16)|ovary(1)|skin(2) 23 AAGCGCACAGCTCTGCCCTGA 0.627000 5 81 0 0 1 0 0 FAM46D 169966 broad.mit.edu 37 X 79698375 79698375 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chrX:79698375C>T ENST00000538312.1 + 5 671 c.337C>T c.(337-339)Cca>Tca p.P113S FAM46D_ENST00000308293.5_Missense_Mutation_p.P113S NM_001170574.1 NP_001164045.1 Q8NEK8 FA46D_HUMAN family with sequence similarity 46, member D 113 kidney(1)|large_intestine(6)|liver(3)|lung(11)|ovary(1)|upper_aerodigestive_tract(1) 23 TGACTTTTTACCAAAAGATGT 0.393000 60 25 0 0 1 0 0 PTPRS 5802 broad.mit.edu 37 19 5223145 5223145 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:5223145G>A ENST00000372412.4 - 18 2894 c.2661C>T c.(2659-2661)tcC>tcT p.S887S PTPRS_ENST00000587303.1_Silent_p.S886S|PTPRS_ENST00000262963.6_Silent_p.S882S|PTPRS_ENST00000357368.4_Silent_p.S886S|PTPRS_ENST00000353284.2_Intron|PTPRS_ENST00000348075.2_Silent_p.S864S|PTPRS_ENST00000592099.1_Intron|PTPRS_ENST00000588012.1_Silent_p.S864S|PTPRS_ENST00000588552.1_Intron Q13332 PTPRS_HUMAN protein tyrosine phosphatase, receptor type, S 886 Fibronectin type-III 6. cell adhesion integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1) 61 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182) AGCGGTCCTCGGAGGGCGGGA 0.731000 6 13 0 0 1 0 0 FLT4 2324 broad.mit.edu 37 5 180048882 180048882 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:180048882G>A ENST00000261937.6 - 13 1758 c.1680C>T c.(1678-1680)atC>atT p.I560I FLT4_ENST00000393347.3_Silent_p.I560I|FLT4_ENST00000424276.2_5'UTR|FLT4_ENST00000502649.1_Silent_p.I560I NM_182925.4 NP_891555.2 P35916 VGFR3_HUMAN fms-related tyrosine kinase 4 560 Ig-like C2-type 6. positive regulation of cell proliferation integral to plasma membrane ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114) all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.134) Sorafenib(DB00398)|Sunitinib(DB01268) GCTTGGATTCGATGGTGAAGC 0.642000 53 149 0 0 1 0 0 RPS6KA6 27330 broad.mit.edu 37 X 83403114 83403114 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chrX:83403114C>T ENST00000262752.2 - 4 283 c.276G>A c.(274-276)aaG>aaA p.K92K RPS6KA6_ENST00000543399.1_Silent_p.K92K NM_014496.4 NP_055311.1 Q9UK32 KS6A6_HUMAN ribosomal protein S6 kinase, 90kDa, polypeptide 6 92 Protein kinase 1. axon guidance|central nervous system development|intracellular protein kinase cascade|synaptic transmission cytosol|nucleoplasm ATP binding|magnesium ion binding|protein serine/threonine kinase activity NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(26)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 46 GACCGGTCTTCTTTCTAACAA 0.318000 24 11 0 0 1 0 0 CLIP1 6249 broad.mit.edu 37 12 122848601 122848601 + Silent SNP G G A rs146627539 byFrequency TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:122848601G>A ENST00000358808.2 - 4 865 c.711C>T c.(709-711)gcC>gcT p.A237A CLIP1_ENST00000537178.1_Silent_p.A237A|CLIP1_ENST00000540338.1_Silent_p.A237A|CLIP1_ENST00000302528.7_Silent_p.A237A|CLIP1_ENST00000361654.4_Silent_p.A237A NM_001247997.1|NM_002956.2 NP_001234926.1|NP_002947.1 P30622 CLIP1_HUMAN CAP-GLY domain containing linker protein 1 237 CAP-Gly 2. mitotic prometaphase|positive regulation of microtubule polymerization centrosome|cytosol|endosome|intermediate filament|kinetochore nucleic acid binding|protein homodimerization activity|zinc ion binding NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226) ACTCCCCCTTGGCAAAGTCGG 0.493000 5 79 0 0 1 0 0 OTUD7B 56957 broad.mit.edu 37 1 149916908 149916908 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:149916908G>A ENST00000369135.3 - 12 1674 c.1380C>T c.(1378-1380)tcC>tcT p.S460S NM_020205.2 NP_064590.2 Q6GQQ9 OTU7B_HUMAN OTU domain containing 7B 460 negative regulation of I-kappaB kinase/NF-kappaB cascade cytoplasm|microtubule cytoskeleton|nucleus cysteine-type peptidase activity|DNA binding|protein binding|zinc ion binding breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 Breast(34;0.0009)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.247) ACTCAGGAGTGGACCGGGGCT 0.607000 44 127 0 0 1 0 0 ITGB4 3691 broad.mit.edu 37 17 73733428 73733428 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:73733428C>T ENST00000200181.3 + 17 2203 c.2016C>T c.(2014-2016)tcC>tcT p.S672S ITGB4_ENST00000449880.2_Silent_p.S672S|ITGB4_ENST00000339591.3_Silent_p.S672S|ITGB4_ENST00000579662.1_Silent_p.S672S|ITGB4_ENST00000450894.3_Silent_p.S672S|ITGB4_ENST00000584558.1_3'UTR NM_000213.3 NP_000204.3 P16144 ITB4_HUMAN integrin, beta 4 672 IHPGLCEDLRSCVQCQAWGTGEKKGRTCEECNFKVKMVDEL KRAEEVVVRCSFRDEDDDCTYSYTMEGDGAPGPNSTVLVHK KK -> STRASARTYAPACSARRGAPARRRGARVRNATSRS RWWTSLREARRWWCAAPSGTRMTTAPTATPWKVTAPLGPTA LSWCTRRR (in Ref. 5; CAB61345). cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding cell leading edge|cell surface|hemidesmosome|integrin complex protein binding|receptor activity breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1) 43 all_cancers(13;1.5e-07) all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154) TGCGCTGCTCCTTCCGGGACG 0.662000 4 23 0 0 1 0 0 ZSCAN31 64288 broad.mit.edu 37 6 28297303 28297303 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:28297303G>A ENST00000414429.1 - 6 1061 c.158C>T c.(157-159)cCc>cTc p.P53L ZSCAN31_ENST00000446474.1_Intron|ZSCAN31_ENST00000439158.1_Missense_Mutation_p.P53L|ZSCAN31_ENST00000396838.2_Missense_Mutation_p.P53L|ZSCAN31_ENST00000344279.6_Missense_Mutation_p.P53L zinc finger and SCAN domain containing 31 AGCTTCTCGGGGACCAGGAGT 0.522000 68 294 0 0 1 0 0 CHGB 1114 broad.mit.edu 37 20 5903629 5903629 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr20:5903629G>A ENST00000378961.4 + 4 1043 c.839G>A c.(838-840)aGg>aAg p.R280K NM_001819.2 NP_001810.2 P05060 SCG1_HUMAN chromogranin B (secretogranin 1) 280 extracellular region hormone activity breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1) 47 CGACGCACGAGGCCCAGACAC 0.597000 12 16 0 0 1 0 0 FBXL13 222235 broad.mit.edu 37 7 102553563 102553563 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:102553563G>A ENST00000393772.2 - 11 1404 c.978C>T c.(976-978)ctC>ctT p.L326L FBXL13_ENST00000379308.3_Silent_p.L326L|FBXL13_ENST00000379305.3_Silent_p.L326L|LRRC17_ENST00000249377.4_5'UTR|FBXL13_ENST00000456695.1_Silent_p.L326L|FBXL13_ENST00000436908.1_Silent_p.L326L|FBXL13_ENST00000313221.4_Silent_p.L326L|FBXL13_ENST00000379306.3_Silent_p.L326L|FBXL13_ENST00000455112.2_Silent_p.L326L|LRRC17_ENST00000339431.4_5'UTR Q8NEE6 FXL13_HUMAN F-box and leucine-rich repeat protein 13 326 NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|skin(3)|stomach(1) 27 CCAGATAGATGAGCTTGTGGC 0.493000 22 109 0 0 1 0 0 ABCG2 9429 broad.mit.edu 37 4 89042941 89042941 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:89042941C>T ENST00000237612.3 - 6 1080 c.535G>A c.(535-537)Gga>Aga p.G179R ABCG2_ENST00000515655.1_Missense_Mutation_p.G179R NM_004827.2 NP_004818.2 Q9UNQ0 ABCG2_HUMAN ATP-binding cassette, sub-family G (WHITE), member 2 179 ABC transporter. cellular iron ion homeostasis|urate metabolic process integral to membrane|plasma membrane ATP binding|heme transporter activity|protein homodimerization activity|xenobiotic-transporting ATPase activity breast(5)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(13)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 42 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;7.02e-05) Imatinib(DB00619)|Mitoxantrone(DB01204)|Nicardipine(DB00622)|Nitrendipine(DB01054)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Topotecan(DB01030) AACTGAGTTCCAACCTAAATC 0.398000 33 51 0 0 1 0 0 WDR45B 56270 broad.mit.edu 37 17 80575194 80575194 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:80575194G>A ENST00000392325.4 - 8 978 c.784C>T c.(784-786)Cca>Tca p.P262S WDR45B_ENST00000571835.1_5'UTR NM_019613.3 NP_062559.2 WD repeat domain 45B TTCCTTTTTGGATCTTCAGCT 0.527000 13 48 0 0 1 0 0 PCDH11X 27328 broad.mit.edu 37 X 91090506 91090506 + Translation_Start_Site SNP G G A rs67070364 TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chrX:91090506G>A ENST00000373094.1 + 1 848 c.3G>A c.(1-3)atG>atA p.M1I PCDH11X_ENST00000361724.1_Start_Codon_SNP_p.M1I|PCDH11X_ENST00000373088.1_Start_Codon_SNP_p.M1I|PCDH11X_ENST00000373097.1_Start_Codon_SNP_p.M1I|PCDH11X_ENST00000395337.2_Start_Codon_SNP_p.M1I|PCDH11X_ENST00000361655.2_Start_Codon_SNP_p.M1I|PCDH11X_ENST00000298274.8_Start_Codon_SNP_p.M1I|PCDH11X_ENST00000406881.1_Start_Codon_SNP_p.M1I|PCDH11X_ENST00000504220.1_Start_Codon_SNP_p.M1I NM_032968.3 NP_116750.1 Q9BZA7 PC11X_HUMAN protocadherin 11 X-linked 1 homophilic cell adhesion integral to plasma membrane calcium ion binding NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 159 TACCTGGTATGGACTTGTTGT 0.468000 55 27 0 0 1 0 0 ZNF268 10795 broad.mit.edu 37 12 133780601 133780601 + Missense_Mutation SNP G G C TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:133780601G>C ENST00000536435.2 + 6 2659 c.2329G>C c.(2329-2331)Gaa>Caa p.E777Q ZNF268_ENST00000228289.5_Missense_Mutation_p.E777Q|ZNF268_ENST00000541009.2_3'UTR|ZNF268_ENST00000542986.2_3'UTR|ZNF268_ENST00000537565.1_Missense_Mutation_p.E616Q|ZNF268_ENST00000536899.2_3'UTR NM_001165885.1|NM_003415.2 NP_001159357.1|NP_003406.1 Q14587 ZN268_HUMAN zinc finger protein 268 777 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(2)|breast(3)|endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(1) 24 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_cancers(7;0.000215)|all_epithelial(31;0.096) OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05) TCATGCAGGGGAAAAGCCTTA 0.413000 8 12 0 0 1 0 0 GRIA2 2891 broad.mit.edu 37 4 158281154 158281154 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:158281154C>T ENST00000296526.7 + 13 2475 c.2150C>T c.(2149-2151)tCc>tTc p.S717F GRIA2_ENST00000393815.2_Missense_Mutation_p.S670F|GRIA2_ENST00000264426.9_Missense_Mutation_p.S717F|GRIA2_ENST00000449365.1_Missense_Mutation_p.S670F|GRIA2_ENST00000507898.1_Missense_Mutation_p.S670F NM_000826.3 NP_000817.2 P42262 GRIA2_HUMAN glutamate receptor, ionotropic, AMPA 2 717 synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 79 all_hematologic(180;0.24) Renal(120;0.0458) COAD - Colon adenocarcinoma(41;0.0294) L-Glutamic Acid(DB00142) GTGCGGAAGTCCAAAGGGAAA 0.498000 20 57 0 0 1 0 0 MROH2B 133558 broad.mit.edu 37 5 41015500 41015500 + Missense_Mutation SNP A A C TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:41015500A>C ENST00000399564.4 - 29 3415 c.2965T>G c.(2965-2967)Tct>Gct p.S989A MROH2B_ENST00000506092.2_Missense_Mutation_p.S544A NM_173489.4 NP_775760.3 maestro heat-like repeat family member 2B ATTTTAGAAGAAATCTTGATC 0.418000 15 57 0 0 1 0 0 KARS 3735 broad.mit.edu 37 16 75678274 75678274 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr16:75678274G>A ENST00000319410.5 - 2 174 c.53C>T c.(52-54)tCc>tTc p.S18F KARS_ENST00000568378.1_Missense_Mutation_p.S18F|KARS_ENST00000302445.3_Intron NM_001130089.1 NP_001123561.1 Q15046 SYK_HUMAN lysyl-tRNA synthetase 0 interspecies interaction between organisms|lysyl-tRNA aminoacylation|tRNA processing cytosol|extracellular region|mitochondrial matrix|nucleus|plasma membrane|soluble fraction ATP binding|lysine-tRNA ligase activity|metal ion binding|tRNA binding kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1) 18 L-Lysine(DB00123) CTCTGCCCAGGAGGTTTTGCG 0.537000 6 6 0 0 1 0 0 DLC1 10395 broad.mit.edu 37 8 13357153 13357153 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:13357153C>T ENST00000276297.4 - 2 837 c.428G>A c.(427-429)gGa>gAa p.G143E DLC1_ENST00000511869.1_Missense_Mutation_p.G143E|DLC1_ENST00000316609.5_Missense_Mutation_p.G143E NM_182643.2 NP_872584.2 Q96QB1 RHG07_HUMAN deleted in liver cancer 1 143 actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction caveola|cytosol|focal adhesion|nucleus Rho GTPase activator activity|SH2 domain binding NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 110 GGAGCCTGCTCCTTGGATCAT 0.408000 88 227 0 0 1 0 0 KCNA6 3742 broad.mit.edu 37 12 4919747 4919747 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:4919747C>T ENST00000433855.1 + 1 1406 c.540C>T c.(538-540)tcC>tcT p.S180S KCNA6_ENST00000280684.3_Silent_p.S180S NM_002235.3 NP_002226.1 P17658 KCNA6_HUMAN potassium voltage-gated channel, shaker-related subfamily, member 6 180 voltage-gated potassium channel complex voltage-gated potassium channel activity NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5) 49 CCATCGTCTCCGTGTTGGTCA 0.587000 HNSCC(72;0.22) 21 59 0 0 1 0 0 EYA1 2138 broad.mit.edu 37 8 72211898 72211898 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:72211898G>A ENST00000340726.3 - 8 1253 c.614C>T c.(613-615)tCc>tTc p.S205F EYA1_ENST00000388743.2_Missense_Mutation_p.S204F|EYA1_ENST00000388740.3_Missense_Mutation_p.S172F|EYA1_ENST00000303824.7_Missense_Mutation_p.S199F|EYA1_ENST00000388742.4_Missense_Mutation_p.S205F|EYA1_ENST00000419131.1_Missense_Mutation_p.S200F|EYA1_ENST00000388741.2_Missense_Mutation_p.S171F NM_000503.4 NP_000494.2 Q99502 EYA1_HUMAN eyes absent homolog 1 (Drosophila) 205 double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent cytoplasm|nucleus metal ion binding|protein tyrosine phosphatase activity NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 44 Breast(64;0.046) Epithelial(68;0.0837)|all cancers(69;0.247) AAATCCAGAGGAATTTGTGAG 0.299000 39 116 0 0 1 0 0 PLD2 5338 broad.mit.edu 37 17 4722448 4722448 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:4722448C>T ENST00000263088.6 + 22 2374 c.2243C>T c.(2242-2244)cCc>cTc p.P748L PLD2_ENST00000572940.1_Missense_Mutation_p.P748L NM_001243108.1|NM_002663.4 NP_001230037.1|NP_002654.3 O14939 PLD2_HUMAN phospholipase D2 748 Catalytic. cell communication|cytoskeleton organization|small GTPase mediated signal transduction NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity p.P748L(4) autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2) 31 Choline(DB00122) GGCGGGCACCCCGTCTCGGAG 0.597000 28 76 0 0 1 0 0 COL23A1 91522 broad.mit.edu 37 5 177690279 177690279 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:177690279C>T ENST00000390654.3 - 9 926 c.569G>A c.(568-570)gGa>gAa p.G190E COL23A1_ENST00000407622.1_Missense_Mutation_p.G154E NM_173465.3 NP_775736.2 Q86Y22 CONA1_HUMAN collagen, type XXIII, alpha 1 190 Collagen-like 1.|Gly-rich. collagen|integral to membrane|plasma membrane protein binding breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1) 19 all_cancers(89;0.00188)|Renal(175;0.000159)|Lung NSC(126;0.00814)|all_lung(126;0.0129) all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) OV - Ovarian serous cystadenocarcinoma(192;0.153)|all cancers(165;0.172) CCCAGGAGGTCCAGGGGGCCC 0.677000 20 33 0 0 1 0 0 GABBR1 2550 broad.mit.edu 37 6 29589906 29589906 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:29589906G>A ENST00000377034.4 - 9 1375 c.1040C>T c.(1039-1041)cCa>cTa p.P347L GABBR1_ENST00000355973.3_Missense_Mutation_p.P230L|GABBR1_ENST00000377016.4_Missense_Mutation_p.P285L|GABBR1_ENST00000377012.4_Missense_Mutation_p.P230L|GABBR1_ENST00000376977.3_Missense_Mutation_p.P347L NM_001470.2 NP_001461.1 Q9UBS5 GABR1_HUMAN gamma-aminobutyric acid (GABA) B receptor, 1 347 gamma-aminobutyric acid signaling pathway|negative regulation of adenylate cyclase activity|synaptic transmission cell junction|extracellular region|integral to plasma membrane|postsynaptic membrane G-protein coupled receptor activity|GABA-B receptor activity endometrium(3)|kidney(1)|large_intestine(13)|liver(1)|lung(16)|ovary(5)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 Baclofen(DB00181)|Progabide(DB00837) GGGCACAGCTGGATCTGAGAA 0.522000 20 77 0 0 1 0 0 VRK2 7444 broad.mit.edu 37 2 58373520 58373520 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:58373520C>T ENST00000435505.2 + 15 1838 c.1093C>T c.(1093-1095)Cac>Tac p.H365Y VRK2_ENST00000417641.2_Missense_Mutation_p.H365Y|VRK2_ENST00000440705.2_Missense_Mutation_p.H342Y|VRK2_ENST00000340157.4_Missense_Mutation_p.H365Y|VRK2_ENST00000412104.2_Missense_Mutation_p.H365Y Q86Y07 VRK2_HUMAN vaccinia related kinase 2 365 integral to membrane ATP binding|protein binding|protein serine/threonine kinase activity endometrium(4)|kidney(2)|large_intestine(5)|lung(12)|ovary(1) 24 AAAAAAAGTCCACAGTGAGAG 0.403000 6 87 0 0 1 0 0 SI 6476 broad.mit.edu 37 3 164737437 164737437 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:164737437G>A ENST00000264382.3 - 28 3438 c.3376C>T c.(3376-3378)Ctg>Ttg p.L1126L NM_001041.3 NP_001032.2 P14410 SUIS_HUMAN sucrase-isomaltase (alpha-glucosidase) 1126 Sucrase. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|brush border|Golgi apparatus|integral to membrane carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1) 218 Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199) Acarbose(DB00284) TTCCAGTTCAGATCTCGCTTA 0.423000 HNSCC(35;0.089) 35 75 0 0 1 0 0 NXF4 55999 broad.mit.edu 37 X 101826446 101826446 + RNA SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chrX:101826446C>T ENST00000360035.2 + 0 3440 NR_002216.1 endometrium(2)|lung(8) 10 TTTGTTTCCTCTTTTTACCAG 0.507000 11 4 0 0 1 0 0 NSUN7 79730 broad.mit.edu 37 4 40800848 40800848 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:40800848C>T ENST00000381782.2 + 10 1822 c.1327C>T c.(1327-1329)Cca>Tca p.P443S NSUN7_ENST00000316607.5_Missense_Mutation_p.P443S NM_024677.4 NP_078953.3 NOP2/Sun domain family, member 7 NS(1)|autonomic_ganglia(1)|cervix(1)|large_intestine(1)|lung(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 12 TTCAGTTTTTCCAGAAGAAAA 0.338000 22 60 0 0 1 0 0 UBR2 23304 broad.mit.edu 37 6 42643918 42643918 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:42643918C>T ENST00000372901.1 + 39 4634 c.4376C>T c.(4375-4377)aCc>aTc p.T1459I UBR2_ENST00000372883.3_Intron|UBR2_ENST00000372899.1_Missense_Mutation_p.T1459I Q8IWV8 UBR2_HUMAN ubiquitin protein ligase E3 component n-recognin 2 1459 cellular response to leucine|chromatin silencing|histone H2A ubiquitination|negative regulation of TOR signaling cascade nucleus|plasma membrane leucine binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5) 64 Colorectal(47;0.196) Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196) ATCTTACTTACCTCATGTACA 0.388000 8 396 0 0 1 0 0 IQGAP2 10788 broad.mit.edu 37 5 75954411 75954411 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:75954411G>A ENST00000274364.6 + 21 2745 c.2448G>A c.(2446-2448)agG>agA p.R816R IQGAP2_ENST00000502745.1_Silent_p.R312R|IQGAP2_ENST00000396234.3_Silent_p.R312R|IQGAP2_ENST00000379730.3_Silent_p.R318R NM_006633.2 NP_006624.2 Q13576 IQGA2_HUMAN IQ motif containing GTPase activating protein 2 816 small GTPase mediated signal transduction actin cytoskeleton actin binding|calmodulin binding|GTPase inhibitor activity|Ras GTPase activator activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 68 all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149) all cancers(79;1.38e-36) CCAAGATCAGGGCCAATCAAC 0.453000 8 113 0 0 1 0 0 PTPRB 5787 broad.mit.edu 37 12 70918270 70918270 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:70918270C>T ENST00000334414.6 - 33 6650 c.6606G>A c.(6604-6606)gtG>gtA p.V2202V RP11-588H23.3_ENST00000549359.1_RNA|PTPRB_ENST00000261266.5_Silent_p.V1984V|PTPRB_ENST00000451516.2_Silent_p.V1894V|RP11-588H23.3_ENST00000547656.1_RNA|RP11-588H23.3_ENST00000546836.1_RNA|PTPRB_ENST00000550857.1_Silent_p.V1894V|RP11-588H23.3_ENST00000549460.1_RNA|PTPRB_ENST00000538708.1_Silent_p.V1894V|RP11-588H23.3_ENST00000548687.1_RNA|PTPRB_ENST00000550358.1_Silent_p.V2114V|RP11-588H23.3_ENST00000551438.1_RNA NM_001109754.2 NP_001103224.1 P23467 PTPRB_HUMAN protein tyrosine phosphatase, receptor type, B 1984 angiogenesis integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3) 107 Renal(347;0.236) GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149) ACTCTGGATTCACATTTTCAT 0.438000 11 11 0 0 1 0 0 NTRK3 4916 broad.mit.edu 37 15 88678339 88678339 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr15:88678339G>A ENST00000394480.1 - 10 1518 c.1197C>T c.(1195-1197)ccC>ccT p.P399P NTRK3_ENST00000557856.1_Silent_p.P399P|NTRK3_ENST00000558676.1_Silent_p.P399P|NTRK3_ENST00000357724.2_Silent_p.P399P|NTRK3_ENST00000540489.2_Silent_p.P399P|NTRK3_ENST00000542733.2_Silent_p.P301P|NTRK3_ENST00000355254.2_Silent_p.P399P|NTRK3_ENST00000360948.2_Silent_p.P399P|NTRK3_ENST00000317501.3_Silent_p.P399P NM_001243101.1|NM_002530.3 NP_001230030.1|NP_002521.2 Q16288 NTRK3_HUMAN neurotrophic tyrosine kinase, receptor, type 3 399 transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity ETV6/NTRK3(238) breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2) 119 BRCA - Breast invasive adenocarcinoma(143;0.211) CACCTGGAAAGGGCTCCTTGA 0.532000 T ETV6 """congenital fibrosarcoma, Secretory breast """ TSP Lung(13;0.10) 34 87 0 0 1 0 0 SLIT1 6585 broad.mit.edu 37 10 98802700 98802700 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:98802700G>A ENST00000266058.4 - 20 2367 c.2122C>T c.(2122-2124)Ccc>Tcc p.P708S ARHGAP19-SLIT1_ENST00000453547.2_3'UTR|SLIT1_ENST00000371070.4_Missense_Mutation_p.P708S NM_003061.2 NP_003052.2 O75093 SLIT1_HUMAN slit homolog 1 (Drosophila) 708 LRRCT 3. axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis cytoplasm|extracellular space calcium ion binding|Roundabout binding p.P708S(1) breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 78 Colorectal(252;0.162) Epithelial(162;2.02e-08)|all cancers(201;1.5e-06) TCCTGCAGGGGAATCTGCCGC 0.642000 14 52 0 0 1 0 0 SIRPA 140885 broad.mit.edu 37 20 1902120 1902120 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr20:1902120C>T ENST00000358771.4 + 3 668 c.516C>T c.(514-516)tcC>tcT p.S172S SIRPA_ENST00000356025.3_Silent_p.S172S|SIRPA_ENST00000400068.3_Silent_p.S172S NM_001040023.1 NP_001035112.1 P78324 SHPS1_HUMAN signal-regulatory protein alpha 172 Ig-like C1-type 1. blood coagulation|cell adhesion|cell junction assembly|leukocyte migration integral to membrane|plasma membrane SH3 domain binding cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 21 Colorectal(46;0.018)|READ - Rectum adenocarcinoma(1;0.0556) CCTGCGAGTCCCACGGCTTCT 0.572000 29 67 0 0 1 0 0 PRUNE2 158471 broad.mit.edu 37 9 79321534 79321534 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:79321534G>A ENST00000428286.1 - 8 5779 c.4579C>T c.(4579-4581)Cct>Tct p.P1527S PRUNE2_ENST00000376718.3_Missense_Mutation_p.P1886S Q8WUY3 PRUN2_HUMAN prune homolog 2 (Drosophila) 1886 apoptosis|G1 phase|induction of apoptosis cytoplasm metal ion binding|pyrophosphatase activity endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1) 16 TCACTAAAAGGATTAGTATAG 0.473000 13 43 0 0 1 0 0 TRAPPC12 51112 broad.mit.edu 37 2 3392390 3392390 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:3392390C>T ENST00000324266.5 + 2 1191 c.996C>T c.(994-996)ttC>ttT p.F332F TRAPPC12_ENST00000382110.2_Silent_p.F332F NM_016030.5 NP_057114.5 Q8WVT3 TTC15_HUMAN trafficking protein particle complex 12 332 binding GCGCCGTGTTCGTGGACAAGG 0.687000 6 16 0 0 1 0 0 TMEM8A 58986 broad.mit.edu 37 16 426297 426297 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr16:426297G>A ENST00000431232.2 - 6 1223 c.1063C>T c.(1063-1065)Cca>Tca p.P355S TMEM8A_ENST00000250930.3_Missense_Mutation_p.P162S NM_021259.2 NP_067082.2 Q9HCN3 TMM8A_HUMAN transmembrane protein 8A 355 cell adhesion integral to plasma membrane central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(1) 14 CGCGTGACTGGGTAGTTTGTG 0.657000 33 92 0 0 1 0 0 TMPRSS6 164656 broad.mit.edu 37 22 37499398 37499398 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr22:37499398C>T ENST00000381792.2 - 2 200 c.60G>A c.(58-60)gaG>gaA p.E20E TMPRSS6_ENST00000406725.1_Silent_p.E20E|TMPRSS6_ENST00000346753.3_Silent_p.E29E|TMPRSS6_ENST00000442782.2_Silent_p.E29E|TMPRSS6_ENST00000406856.1_Silent_p.E20E Q8IU80 TMPS6_HUMAN transmembrane protease, serine 6 29 angiogenesis|extracellular matrix organization|fibrinolysis|intracellular signal transduction|proteolysis integral to membrane|intracellular|plasma membrane serine-type endopeptidase activity breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3) 40 GCTCCGCTTCCTCGCCATCAC 0.662000 83 181 0 0 1 0 0 EDN1 1906 broad.mit.edu 37 6 12292599 12292599 + Silent SNP G G A rs150035515 by1000genomes TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:12292599G>A ENST00000379375.5 + 2 357 c.90G>A c.(88-90)gcG>gcA p.A30A NM_001168319.1|NM_001955.4 NP_001161791.1|NP_001946.3 P05305 EDN1_HUMAN endothelin 1 30 artery smooth muscle contraction|calcium-mediated signaling|leukocyte activation|negative regulation of blood coagulation|negative regulation of cellular protein metabolic process|negative regulation of nitric-oxide synthase biosynthetic process|negative regulation of transcription from RNA polymerase II promoter|nitric oxide transport|peptide hormone secretion|phosphatidylinositol 3-kinase cascade|positive regulation of cardiac muscle hypertrophy|positive regulation of cell size|positive regulation of endothelial cell migration|positive regulation of heart rate|positive regulation of hormone secretion|positive regulation of JUN kinase activity|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of sarcomere organization|positive regulation of smooth muscle cell proliferation|prostaglandin biosynthetic process|protein kinase C deactivation|regulation of systemic arterial blood pressure by endothelin|regulation of vasoconstriction|vein smooth muscle contraction cytoplasm|extracellular space cytokine activity|endothelin A receptor binding|endothelin B receptor binding|hormone activity endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 13 all_cancers(95;0.241)|Breast(50;0.0266)|Ovarian(93;0.12) all_hematologic(90;0.117) AGCTCAGCGCGGTGGGTGAGA 0.617000 7 278 0 0 1 0 0 PKHD1 5314 broad.mit.edu 37 6 51910835 51910835 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:51910835G>A ENST00000371117.3 - 24 2834 c.2559C>T c.(2557-2559)tcC>tcT p.S853S PKHD1_ENST00000340994.4_Silent_p.S853S NM_138694.3 NP_619639.3 P08F94 PKHD1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive) 853 cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body protein binding|receptor activity NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5) 304 Lung NSC(77;0.0605) CAATCTGAGTGGACCAGGACA 0.448000 46 56 0 0 1 0 0 UPF2 26019 broad.mit.edu 37 10 11978663 11978663 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:11978663G>A ENST00000356352.2 - 18 3900 c.3427C>T c.(3427-3429)Cct>Tct p.P1143S UPF2_ENST00000357604.5_Missense_Mutation_p.P1143S|UPF2_ENST00000397053.2_Missense_Mutation_p.P1143S Q9HAU5 RENT2_HUMAN UPF2 regulator of nonsense transcripts homolog (yeast) 1143 Necessary for interaction with UPF1.|Sufficient for interaction with EIF4A1 and EIF1.|Sufficient for interaction with UPF1 C- terminus. mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay exon-exon junction complex|perinuclear region of cytoplasm identical protein binding|RNA binding breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(14)|lung(17)|ovary(2)|skin(3)|urinary_tract(2) 56 Renal(717;0.228) AGATGCAAAGGAATGGCAACA 0.438000 21 63 0 0 1 0 0 UGT2A2 574537 broad.mit.edu 37 4 70505286 70505286 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:70505286C>T ENST00000457664.2 - 1 72 c.73G>A c.(73-75)Gaa>Aaa p.E25K UGT2A1_ENST00000286604.4_Intron|UGT2A1_ENST00000503640.1_Intron|UGT2A1_ENST00000512704.1_Intron|UGT2A1_ENST00000514019.1_Intron NM_001105677.2 NP_001099147.2 AGAACAACTTCAGTCAGAGTC 0.348000 32 62 0 0 1 0 0 EPN1 29924 broad.mit.edu 37 19 56203262 56203262 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:56203262C>T ENST00000411543.2 + 7 1710 c.1163C>T c.(1162-1164)cCt>cTt p.P388L EPN1_ENST00000270460.6_Missense_Mutation_p.P302L|EPN1_ENST00000085079.7_Missense_Mutation_p.P277L NM_001130071.1 NP_001123543.1 Q9Y6I3 EPN1_HUMAN epsin 1 302 Ala/Gly/Pro-rich. endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway coated pit|cytoplasm|nucleus|plasma membrane lipid binding endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|skin(1) 17 Colorectal(82;0.00244)|Ovarian(87;0.133) GBM - Glioblastoma multiforme(193;0.112) CCCCCTGTCCCTCCAGCTGCT 0.751000 22 27 0 0 1 0 0 TLL1 7092 broad.mit.edu 37 4 167012370 167012370 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:167012370C>T ENST00000061240.2 + 19 3180 c.2533C>T c.(2533-2535)Ctt>Ttt p.L845F TLL1_ENST00000507499.1_Missense_Mutation_p.L868F NM_012464.4 NP_036596.3 O43897 TLL1_HUMAN tolloid-like 1 845 CUB 4. cell differentiation|proteolysis|skeletal system development extracellular region calcium ion binding|metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 77 all_hematologic(180;0.221) Melanoma(52;0.0315)|Prostate(90;0.0405) GBM - Glioblastoma multiforme(119;0.103) GTCACCGATTCTTGGACGACT 0.388000 22 66 0 0 1 0 0 THTPA 79178 broad.mit.edu 37 14 24026239 24026239 + Silent SNP A A G TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr14:24026239A>G ENST00000288014.6 + 1 1009 c.273A>G c.(271-273)caA>caG p.Q91Q RP11-66N24.4_ENST00000555446.1_RNA|THTPA_ENST00000556015.1_Silent_p.Q91Q|THTPA_ENST00000554789.1_Silent_p.Q91Q|THTPA_ENST00000554970.1_Silent_p.Q91Q|RP11-66N24.4_ENST00000553985.1_RNA|RP11-66N24.4_ENST00000556354.1_RNA|THTPA_ENST00000404535.3_Silent_p.Q91Q Q9BU02 THTPA_HUMAN thiamine triphosphatase 91 dephosphorylation|generation of precursor metabolites and energy|thiamine metabolic process cytosol|nucleolus|soluble fraction thiamin-triphosphatase activity large_intestine(1)|prostate(2) 3 all_cancers(95;0.000251) GBM - Glioblastoma multiforme(265;0.00643) Thiamine(DB00152) TTGTGGCCCAACTCTGTAAGG 0.572000 45 84 0 0 1 0 0 KRT6A 3853 broad.mit.edu 37 12 52881577 52881577 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:52881577G>A ENST00000330722.6 - 9 1690 c.1622C>T c.(1621-1623)tCt>tTt p.S541F NM_005554.3 NP_005545.1 P02538 K2C6A_HUMAN keratin 6A 541 Tail. cell differentiation|ectoderm development|positive regulation of cell proliferation keratin filament protein binding|structural constituent of cytoskeleton breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 39 BRCA - Breast invasive adenocarcinoma(357;0.189) GCCTCCAACAGAGCTGAGGCC 0.592000 59 104 0 0 1 0 0 KCNAB1 7881 broad.mit.edu 37 3 156170718 156170718 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:156170718C>T ENST00000302490.8 + 3 1167 c.296C>T c.(295-297)tCa>tTa p.S99L KCNAB1_ENST00000490337.1_Missense_Mutation_p.S117L|KCNAB1_ENST00000471742.1_Missense_Mutation_p.S106L|KCNAB1_ENST00000389634.5_Missense_Mutation_p.S99L|KCNAB1_ENST00000389636.5_Missense_Mutation_p.S117L NM_172159.3 NP_751891.1 Q14722 KCAB1_HUMAN potassium voltage-gated channel, shaker-related subfamily, beta member 1 117 cytoplasm|integral to membrane oxidoreductase activity|potassium channel regulator activity|voltage-gated potassium channel activity breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 28 LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465) GGTCAAATTTCAGATGAGGTA 0.363000 46 98 0 0 1 0 0 ZNF222 7673 broad.mit.edu 37 19 44536787 44536787 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:44536787G>A ENST00000187879.8 + 4 1122 c.960G>A c.(958-960)aaG>aaA p.K320K ZNF222_ENST00000391960.3_Silent_p.K360K|ZNF223_ENST00000591793.1_Intron NM_013360.2 NP_037492.2 Q9UK12 ZN222_HUMAN zinc finger protein 222 320 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|large_intestine(7)|lung(6)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1) 20 Prostate(69;0.0435) AATGTGGGAAGAGCTTCAAAT 0.398000 15 203 0 0 1 0 0 UGT2B11 10720 broad.mit.edu 37 4 70070294 70070294 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:70070294G>A ENST00000446444.1 - 5 1172 c.1164C>T c.(1162-1164)atC>atT p.I388I RP11-704M14.1_ENST00000504301.1_RNA|RP11-704M14.1_ENST00000505646.1_RNA NM_001073.1 NP_001064.1 O75310 UDB11_HUMAN UDP glucuronosyltransferase 2 family, polypeptide B11 388 estrogen metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 42 CCACCATAGGGATCCCATGGT 0.423000 101 135 0 0 1 0 0 ST18 9705 broad.mit.edu 37 8 53079532 53079532 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:53079532C>T ENST00000276480.7 - 11 1767 c.1084G>A c.(1084-1086)Gaa>Aaa p.E362K NM_014682.2 NP_055497.1 O60284 ST18_HUMAN suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein) 362 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.E362K(1) NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 85 Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229) TCCCTCTTTTCAGGCCTTGGT 0.512000 65 172 0 0 1 0 0 RUSC2 9853 broad.mit.edu 37 9 35548463 35548463 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:35548463C>T ENST00000455600.1 + 2 2514 c.1945C>T c.(1945-1947)Cca>Tca p.P649S NM_001135999.1 NP_001129471.1 Q8N2Y8 RUSC2_HUMAN RUN and SH3 domain containing 2 649 cytosol NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194) GCTGATGGATCCAGGGCCTGC 0.612000 23 66 0 0 1 0 0 C3orf56 285311 broad.mit.edu 37 3 126915866 126915866 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:126915866C>T ENST00000398112.1 + 2 578 c.338C>T c.(337-339)cCc>cTc p.P113L NM_001007534.2 NP_001007535.1 chromosome 3 open reading frame 56 breast(1)|endometrium(2)|kidney(1)|lung(5) 9 GBM - Glioblastoma multiforme(114;0.142) AGCTTTGACCCCCTCATAGGA 0.577000 82 198 0 0 1 0 0 GALNT15 117248 broad.mit.edu 37 3 16216931 16216931 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:16216931G>A ENST00000339732.5 + 1 776 c.273G>A c.(271-273)cgG>cgA p.R91R GALNT15_ENST00000437509.1_Silent_p.R91R|GALNT15_ENST00000470031.1_3'UTR NM_054110.4 NP_473451.3 UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 15 TCTCACTGCGGGAGGATCAGC 0.612000 28 57 0 0 1 0 0 DPP10 57628 broad.mit.edu 37 2 116539962 116539962 + Silent SNP G G A rs150530543 by1000genomes TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:116539962G>A ENST00000410059.1 + 17 1998 c.1518G>A c.(1516-1518)acG>acA p.T506T DPP10_ENST00000409163.1_Silent_p.T456T|DPP10_ENST00000310323.8_Silent_p.T499T|DPP10_ENST00000393147.2_Silent_p.T510T NM_001178037.1|NM_020868.3 NP_001171508.1|NP_065919.2 Q8N608 DPP10_HUMAN dipeptidyl-peptidase 10 (non-functional) 506 proteolysis integral to membrane|membrane fraction serine-type peptidase activity breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1) 101 TACATAGTACGGACAACCCAG 0.343000 34 76 0 0 1 0 0 OR2M3 127062 broad.mit.edu 37 1 248366964 248366964 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:248366964C>T ENST00000456743.1 + 1 633 c.595C>T c.(595-597)Ctt>Ttt p.L199F NM_001004689.1 NP_001004689.1 Q8NG83 OR2M3_HUMAN olfactory receptor, family 2, subfamily M, member 3 199 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 50 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0245) TGAAAAGATTCTTTTCATCTG 0.433000 236 234 0 0 1 0 0 LRP1B 53353 broad.mit.edu 37 2 141294198 141294198 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:141294198C>T ENST00000389484.3 - 46 8565 c.7594G>A c.(7594-7596)Ggc>Agc p.G2532S NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 2532 LDL-receptor class A 11. protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) TGAGGAATGCCATCACAGGTG 0.378000 TSP Lung(27;0.18) 27 69 0 0 1 0 0 FAM194A 131831 broad.mit.edu 37 3 150387122 150387122 + Missense_Mutation SNP G G C TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:150387122G>C ENST00000295910.6 - 12 1512 c.1460C>G c.(1459-1461)tCt>tGt p.S487C FAM194A_ENST00000491361.1_Missense_Mutation_p.S341C NM_152394.3 NP_689607.2 Q7L0X2 F194A_HUMAN family with sequence similarity 194, member A 487 NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 38 ACTTCTGCCAGAGGAATCCAG 0.443000 42 73 0 0 1 0 0 SLC9C2 284525 broad.mit.edu 37 1 173526585 173526585 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:173526585C>T ENST00000367714.3 - 10 1531 c.1109G>A c.(1108-1110)cGa>cAa p.R370Q SLC9C2_ENST00000536496.1_Missense_Mutation_p.R268Q|RP3-436N22.3_ENST00000431459.1_RNA|SLC9C2_ENST00000466087.1_5'UTR NM_178527.3 NP_848622.2 Q5TAH2 S9A11_HUMAN solute carrier family 9, member C2 (putative) 370 sodium ion transport integral to membrane ion channel activity|solute:hydrogen antiporter activity AACTCCCCATCGCCAATTATA 0.368000 83 237 0 0 1 0 0 THSD7B 80731 broad.mit.edu 37 2 138417241 138417241 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:138417241C>T ENST00000543459.1 + 5 887 c.887C>T c.(886-888)gCt>gTt p.A296V THSD7B_ENST00000272643.3_Silent_p.C1464C|THSD7B_ENST00000413152.2_Silent_p.C1433C|THSD7B_ENST00000409968.1_Silent_p.C1461C thrombospondin, type I, domain containing 7B NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 134 BRCA - Breast invasive adenocarcinoma(221;0.19) CAGGAGGCTGCTCCCCTCAGG 0.463000 4 12 0 0 1 0 0 SLC1A3 6507 broad.mit.edu 37 5 36671299 36671299 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:36671299G>A ENST00000265113.4 + 4 964 c.488G>A c.(487-489)cGa>cAa p.R163Q SLC1A3_ENST00000381918.3_Missense_Mutation_p.R163Q|CTD-2353F22.1_ENST00000510740.1_RNA NM_004172.4 NP_004163.3 P43003 EAA1_HUMAN solute carrier family 1 (glial high affinity glutamate transporter), member 3 163 D-aspartate import|L-glutamate import|neurotransmitter uptake integral to membrane|membrane fraction high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(23)|skin(1) 41 all_lung(31;0.000245) Epithelial(62;0.0444)|Lung(74;0.111)|all cancers(62;0.128)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) L-Glutamic Acid(DB00142) AAAATTGTACGAGTGACAGCT 0.483000 18 48 0 0 1 0 0 SEZ6 124925 broad.mit.edu 37 17 27287908 27287908 + Missense_Mutation SNP T T G TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:27287908T>G ENST00000317338.12 - 6 1752 c.1324A>C c.(1324-1326)Acc>Ccc p.T442P SEZ6_ENST00000360295.9_Missense_Mutation_p.T442P|SEZ6_ENST00000335960.6_Missense_Mutation_p.T442P|SEZ6_ENST00000442608.3_Missense_Mutation_p.T442P|PIPOX_ENST00000583215.1_Intron Q53EL9 SEZ6_HUMAN seizure related 6 homolog (mouse) 442 CUB 1. integral to membrane|plasma membrane breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 29 Lung NSC(42;0.0137) Epithelial(11;4.73e-06)|all cancers(11;2.91e-05)|BRCA - Breast invasive adenocarcinoma(11;8.06e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.111) CAGTGACAGGTGAGGTTGTTG 0.602000 89 166 0 0 1 0 0 DEFB119 245932 broad.mit.edu 37 20 29977020 29977020 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr20:29977020C>T ENST00000376315.2 - 2 74 c.75G>A c.(73-75)atG>atA p.M25I DEFB119_ENST00000492344.1_Intron|DEFB119_ENST00000376321.3_Intron|DEFB119_ENST00000339144.3_Intron NM_001271209.1|NM_153323.4 NP_001258138.1|NP_697018.1 Q8N690 DB119_HUMAN defensin, beta 119 31 defense response to bacterium extracellular region p.M25I(1) large_intestine(2)|lung(1)|prostate(1) 4 all_hematologic(12;0.158) Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347) AGTGTCCATCCATCCAACACT 0.463000 51 133 0 0 1 0 0 KIT 3815 broad.mit.edu 37 4 55595507 55595507 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:55595507C>T ENST00000288135.5 + 14 2094 c.1997C>T c.(1996-1998)aCc>aTc p.T666I NM_000222.2|NM_001093772.1 NP_000213.1|NP_001087241.1 P10721 KIT_HUMAN v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog 666 Protein kinase. male gonad development|transmembrane receptor protein tyrosine kinase signaling pathway extracellular space|integral to membrane ATP binding|protein binding|receptor signaling protein tyrosine kinase activity NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1) 6411 all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101) LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209) Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171) Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268) TTAGGGCCCACCCTGGTCATT 0.363000 1 """Mis, O""" """GIST, AML, TGCT, mastocytosis, mucosal melanoma""" """GIST, epithelioma""" Piebald trait Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors 33 70 0 0 1 0 0 GPR98 84059 broad.mit.edu 37 5 89923291 89923291 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:89923291C>T ENST00000405460.2 + 7 1032 c.936C>T c.(934-936)tcC>tcT p.S312S NM_032119.3 NP_115495.3 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 312 cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6) 269 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) CTGGGAATTCCACAGCACATG 0.378000 45 66 0 0 1 0 0 COL21A1 81578 broad.mit.edu 37 6 56006739 56006739 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:56006739G>A ENST00000244728.5 - 11 1874 c.1477C>T c.(1477-1479)Cca>Tca p.P493S COL21A1_ENST00000370819.1_Missense_Mutation_p.P490S|COL21A1_ENST00000535941.1_Missense_Mutation_p.P493S NM_030820.3 NP_110447.2 Q96P44 COLA1_HUMAN collagen, type XXI, alpha 1 493 Collagen-like 1. cell adhesion collagen|cytoplasm structural molecule activity breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2) 41 Lung NSC(77;0.0483) LUSC - Lung squamous cell carcinoma(124;0.181) TGTATTCCTGGAGATCCTGGA 0.269000 4 10 0 0 1 0 0 MAPK8IP1 9479 broad.mit.edu 37 11 45924649 45924649 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:45924649C>T ENST00000395629.2 + 5 1631 c.1301C>T c.(1300-1302)tCc>tTc p.S434F MAPK8IP1_ENST00000241014.2_Missense_Mutation_p.S444F Q9UQF2 JIP1_HUMAN mitogen-activated protein kinase 8 interacting protein 1 444 vesicle-mediated transport nucleus|perinuclear region of cytoplasm kinesin binding|MAP-kinase scaffold activity|protein kinase inhibitor activity breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2) 24 GBM - Glioblastoma multiforme(35;0.231) GCCTGCCTCTCCGAGGACTCC 0.612000 36 85 0 0 1 0 0 ABCA2 20 broad.mit.edu 37 9 139916432 139916432 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:139916432G>A ENST00000265662.5 - 7 736 c.589C>T c.(589-591)Ccc>Tcc p.P197S ABCA2_ENST00000341511.6_Missense_Mutation_p.P197S|ABCA2_ENST00000371605.3_Missense_Mutation_p.P196S|ABCA2_ENST00000492260.1_5'UTR Q9BZC7 ABCA2_HUMAN ATP-binding cassette, sub-family A (ABC1), member 2 196 cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center ATP binding|ATPase activity, coupled to transmembrane movement of substances central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1) 41 all_cancers(76;0.16) Myeloproliferative disorder(178;0.0511) STAD - Stomach adenocarcinoma(284;0.123) OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048) GCAGATGAGGGACCAAAGAGC 0.642000 6 11 0 0 1 0 0 AMIGO3 386724 broad.mit.edu 37 3 49755457 49755457 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:49755457G>A ENST00000535833.1 - 10 4892 c.1442C>T c.(1441-1443)cCt>cTt p.P481L RNF123_ENST00000327697.6_Intron|GMPPB_ENST00000480687.1_3'UTR|RNF123_ENST00000433785.1_Intron|AMIGO3_ENST00000320431.7_Missense_Mutation_p.P481L Q86WK7 AMGO3_HUMAN adhesion molecule with Ig-like domain 3 481 heterophilic cell-cell adhesion integral to membrane endometrium(1)|pancreas(1)|prostate(2)|urinary_tract(1) 5 BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244) CAGGCCTCCAGGGTTGTAGAG 0.642000 38 49 0 0 1 0 0 ACTN3 89 broad.mit.edu 37 11 66325622 66325622 + RNA SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:66325622C>T ENST00000513398.1 + 0 1350 ACTN3_ENST00000502692.1_RNA NM_001104.2 NP_001095.1 Q08043 ACTN3_HUMAN actinin, alpha 3 (gene/pseudogene) focal adhesion assembly|muscle filament sliding|regulation of apoptosis actin filament|cytosol|focal adhesion|pseudopodium actin binding|calcium ion binding|integrin binding|protein homodimerization activity|structural constituent of muscle breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2) 10 CAGAAGGCCTCCCTGCACGAA 0.632000 9 36 0 0 1 0 0 OBSCN 84033 broad.mit.edu 37 1 228491558 228491558 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:228491558C>T ENST00000570156.2 + 52 13995 c.13921C>T c.(13921-13923)Cgt>Tgt p.R4641C OBSCN_ENST00000284548.11_Intron|OBSCN_ENST00000366707.4_Missense_Mutation_p.R1331C|OBSCN_ENST00000422127.1_Intron|OBSCN_ENST00000366709.4_Intron|OBSCN_ENST00000359599.6_3'UTR NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 3684 Ig-like 47. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) GCTGCAGATTCGTGGCCTGGC 0.597000 48 160 0 0 1 0 0 IL18R1 8809 broad.mit.edu 37 2 103013007 103013007 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:103013007C>T ENST00000409599.1 + 12 1643 c.1287C>T c.(1285-1287)atC>atT p.I429I IL18R1_ENST00000233957.1_Silent_p.I429I Q13478 IL18R_HUMAN interleukin 18 receptor 1 429 TIR. innate immune response integral to membrane|plasma membrane interleukin-1 receptor activity breast(1)|endometrium(3)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 34 TTGATGAAATCCACTCACTGA 0.353000 18 47 0 0 1 0 0 GUCY2C 2984 broad.mit.edu 37 12 14849277 14849277 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:14849277C>T ENST00000261170.3 - 1 242 c.106G>A c.(106-108)Gaa>Aaa p.E36K RP11-174G6.1_ENST00000501178.2_RNA NM_004963.3 NP_004954.2 P25092 GUC2C_HUMAN guanylate cyclase 2C (heat stable enterotoxin receptor) 36 intracellular signal transduction|receptor guanylyl cyclase signaling pathway integral to membrane ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1) 51 ACGCTGATTTCATAGCTGCCA 0.532000 24 22 0 0 1 0 0 ENTHD1 150350 broad.mit.edu 37 22 40140260 40140260 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr22:40140260G>A ENST00000325157.6 - 7 1498 c.1248C>T c.(1246-1248)tcC>tcT p.S416S NM_152512.3 NP_689725.2 Q8IYW4 ENTD1_HUMAN ENTH domain containing 1 416 breast(2)|endometrium(1)|kidney(6)|large_intestine(6)|lung(11)|ovary(3)|skin(3) 32 Melanoma(58;0.0749) AAGGAGAAAAGGAAGATGCTC 0.378000 37 70 0 0 1 0 0 ZNF334 55713 broad.mit.edu 37 20 45129940 45129940 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr20:45129940C>T ENST00000457685.2 - 6 3247 c.1924G>A c.(1924-1926)Gaa>Aaa p.E642K ZNF334_ENST00000593880.1_Missense_Mutation_p.E703K|ZNF334_ENST00000347606.4_Missense_Mutation_p.E680K Q9HCZ1 ZN334_HUMAN zinc finger protein 334 680 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 32 Myeloproliferative disorder(115;0.0122) GGAACTTATTCCTTGTGGGAT 0.308000 40 106 0 0 1 0 0 EPHB4 2050 broad.mit.edu 37 7 100421537 100421537 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:100421537C>T ENST00000358173.3 - 3 608 c.140G>A c.(139-141)gGc>gAc p.G47D EPHB4_ENST00000477446.1_5'UTR|EPHB4_ENST00000360620.3_Missense_Mutation_p.G47D NM_004444.4 NP_004435.3 P54760 EPHB4_HUMAN EPH receptor B4 47 cell proliferation|organ morphogenesis|regulation of angiogenesis cell surface|integral to plasma membrane ATP binding|ephrin receptor activity breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(3) 47 Lung NSC(181;0.041)|all_lung(186;0.0581) CTCATCCAGGCCGCTCAGTTC 0.647000 9 22 0 0 1 0 0 GDF10 2662 broad.mit.edu 37 10 48429087 48429087 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:48429087C>T ENST00000224605.2 - 2 1064 c.799G>A c.(799-801)Gac>Aac p.D267N NM_004962.3 NP_004953.1 P55107 BMP3B_HUMAN growth differentiation factor 10 267 growth|skeletal system development|transforming growth factor beta receptor signaling pathway extracellular space cytokine activity|growth factor activity central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(20)|skin(1) 31 GGGAAGGGGTCGTATCTCTGC 0.701000 11 9 0 0 1 0 0 SYTL2 54843 broad.mit.edu 37 11 85436421 85436421 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:85436421G>A ENST00000359152.5 - 1 2650 c.2651C>T c.(2650-2652)cCt>cTt p.P884L SYTL2_ENST00000528231.1_Intron|SYTL2_ENST00000527523.1_Intron|SYTL2_ENST00000525423.1_Missense_Mutation_p.P360L|SYTL2_ENST00000389960.4_Intron|SYTL2_ENST00000524452.1_Intron|SYTL2_ENST00000354566.3_Missense_Mutation_p.P360L|SYTL2_ENST00000316356.4_Intron NM_206928.2 NP_996811.1 Q9HCH5 SYTL2_HUMAN synaptotagmin-like 2 0 intracellular protein transport|vesicle docking involved in exocytosis exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding|Rab GTPase binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 52 Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033) KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237) ATCTTGGGGAGGGCTGGCCAC 0.478000 7 130 0 0 1 0 0 DLGAP2 9228 broad.mit.edu 37 8 1513891 1513891 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:1513891G>A ENST00000421627.2 + 3 1167 c.1033G>A c.(1033-1035)Gat>Aat p.D345N RP11-666I19.2_ENST00000518063.1_RNA NM_004745.3 NP_004736.2 Q9P1A6 DLGP2_HUMAN discs, large (Drosophila) homolog-associated protein 2 424 neuron-neuron synaptic transmission cell junction|neurofilament|postsynaptic density|postsynaptic membrane protein binding breast(1)|endometrium(6)|lung(31)|prostate(3) 41 Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846) BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171) CGGTGGCAAAGATGAGGAGAT 0.547000 15 31 0 0 1 0 0 CD163L1 283316 broad.mit.edu 37 12 7531843 7531843 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:7531843C>T ENST00000313599.3 - 9 2159 c.2102G>A c.(2101-2103)gGa>gAa p.G701E CD163L1_ENST00000396630.1_Missense_Mutation_p.G701E|CD163L1_ENST00000544331.1_5'UTR|CD163L1_ENST00000416109.2_Missense_Mutation_p.G711E Q9NR16 C163B_HUMAN CD163 molecule-like 1 701 SRCR 7. extracellular region|integral to membrane|plasma membrane scavenger receptor activity breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4) 96 CTCAACTTTTCCAGCACACCT 0.478000 29 59 0 0 1 0 0 KIAA1549 57670 broad.mit.edu 37 7 138601668 138601668 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:138601668C>T ENST00000440172.1 - 2 2752 c.2704G>A c.(2704-2706)Ggt>Agt p.G902S KIAA1549_ENST00000422774.1_Missense_Mutation_p.G902S|KIAA1549_ENST00000242365.4_Missense_Mutation_p.G852S NM_001164665.1|NM_020910.2 NP_001158137.1|NP_065961.2 Q9HCM3 K1549_HUMAN KIAA1549 902 integral to membrane KIAA1549/BRAF(703) large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2) 7 GCGGCGTCACCCATCAGGGTG 0.622000 O BRAF pilocytic astrocytoma 12 27 0 0 1 0 0 SPATA32 124783 broad.mit.edu 37 17 43331878 43331878 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:43331878G>A ENST00000543122.1 - 7 1788 c.1007C>T c.(1006-1008)tCa>tTa p.S336L MAP3K14-AS1_ENST00000588504.1_RNA|MAP3K14-AS1_ENST00000591263.1_RNA|MAP3K14-AS1_ENST00000588698.1_RNA|MAP3K14-AS1_ENST00000592422.1_RNA|MAP3K14-AS1_ENST00000585346.1_RNA|SPATA32_ENST00000331780.4_Missense_Mutation_p.S357L|MAP3K14-AS1_ENST00000590100.1_RNA spermatogenesis associated 32 TGGCGGCACTGAGCTGCAACA 0.517000 46 83 0 0 1 0 0 RPGRIP1 57096 broad.mit.edu 37 14 21762882 21762882 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr14:21762882G>A ENST00000206660.6 + 2 132 c.132G>A c.(130-132)gaG>gaA p.E44E RPGRIP1_ENST00000400017.2_Silent_p.E44E|RPGRIP1_ENST00000557771.1_Silent_p.E44E|RPGRIP1_ENST00000556336.1_Silent_p.E44E Q96KN7 RPGR1_HUMAN retinitis pigmentosa GTPase regulator interacting protein 1 44 response to stimulus|visual perception cilium breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1) 39 all_cancers(95;0.0017) all_cancers(140;0.0973) Epithelial(56;6.24e-07)|all cancers(55;6.56e-06) GBM - Glioblastoma multiforme(265;0.00888) TGAACCGGGAGGAATTGGAGG 0.408000 18 55 0 0 1 0 0 PTPRD 5789 broad.mit.edu 37 9 8633430 8633430 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:8633430G>A ENST00000381196.4 - 11 782 c.239C>T c.(238-240)tCa>tTa p.S80L PTPRD_ENST00000397617.3_Missense_Mutation_p.S80L|PTPRD_ENST00000356435.5_Missense_Mutation_p.S80L|PTPRD_ENST00000358503.5_Missense_Mutation_p.S80L|PTPRD_ENST00000540109.1_Missense_Mutation_p.S80L|PTPRD_ENST00000537002.1_Missense_Mutation_p.S80L|PTPRD_ENST00000486161.1_Missense_Mutation_p.S80L|PTPRD_ENST00000463477.1_Missense_Mutation_p.S80L|PTPRD_ENST00000397611.3_Missense_Mutation_p.S80L|PTPRD_ENST00000360074.4_Missense_Mutation_p.S80L|PTPRD_ENST00000355233.5_Missense_Mutation_p.S80L|PTPRD_ENST00000397606.3_Missense_Mutation_p.S80L NM_002839.3 NP_002830.1 P23468 PTPRD_HUMAN protein tyrosine phosphatase, receptor type, D 80 Ig-like C2-type 1. transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 168 all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824) all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119) TCTGAGAACTGATCCAGACCC 0.428000 TSP Lung(15;0.13) 46 31 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179612736 179612736 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:179612736C>T ENST00000360870.5 - 46 14613 c.14391G>A c.(14389-14391)caG>caA p.Q4797Q TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Intron|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000578746.1_RNA NM_133379.3 NP_596870.2 Q8WZ42 TITIN_HUMAN titin 906 Ig-like 28. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TCCCACCATCCTGCTTTGGAA 0.468000 22 45 0 0 1 0 0 KIAA1549 57670 broad.mit.edu 37 7 138603246 138603246 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:138603246C>T ENST00000440172.1 - 2 1174 c.1126G>A c.(1126-1128)Gat>Aat p.D376N KIAA1549_ENST00000422774.1_Missense_Mutation_p.D376N|KIAA1549_ENST00000242365.4_Missense_Mutation_p.D326N NM_001164665.1|NM_020910.2 NP_001158137.1|NP_065961.2 Q9HCM3 K1549_HUMAN KIAA1549 376 integral to membrane KIAA1549/BRAF(703) large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2) 7 GATGAAACATCAGTTGGTGAA 0.512000 O BRAF pilocytic astrocytoma 75 151 0 0 1 0 0 UGT2B15 7366 broad.mit.edu 37 4 69513029 69513029 + Silent SNP G G C TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:69513029G>C ENST00000338206.5 - 6 1395 c.1386C>G c.(1384-1386)gtC>gtG p.V462V NM_001076.3 NP_001067.2 P54855 UDB15_HUMAN UDP glucuronosyltransferase 2 family, polypeptide B15 462 steroid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity CAATCCAGAAGACTGCTCGAT 0.433000 67 143 0 0 1 0 0 MRC2 9902 broad.mit.edu 37 17 60766924 60766924 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:60766924C>T ENST00000303375.5 + 24 3778 c.3376C>T c.(3376-3378)Ccg>Tcg p.P1126S MRC2_ENST00000580916.1_Intron|MRC2_ENST00000446119.2_Intron NM_006039.4 NP_006030.2 Q9UBG0 MRC2_HUMAN mannose receptor, C type 2 1126 endocytosis integral to membrane receptor activity|sugar binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3) 53 GCCCCCCGCCCCGGGCACTGA 0.687000 12 22 0 0 1 0 0 KRTAP21-2 337978 broad.mit.edu 37 21 32119282 32119282 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr21:32119282G>A ENST00000333892.2 - 1 269 c.239C>T c.(238-240)tCc>tTc p.S80F NM_181617.1 NP_853648.1 Q3LI59 KR212_HUMAN keratin associated protein 21-2 80 intermediate filament lung(4)|skin(2)|upper_aerodigestive_tract(1) 7 GTAGCAAGAGGAATAGCATCT 0.473000 63 176 0 0 1 0 0 CAMSAP3 57662 broad.mit.edu 37 19 7676864 7676864 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:7676864C>T ENST00000446248.2 + 13 1667 c.1566C>T c.(1564-1566)tcC>tcT p.S522S CAMSAP3_ENST00000160298.4_Silent_p.S495S NM_001080429.2 NP_001073898.1 Q9P1Y5 CAMP3_HUMAN calmodulin regulated spectrin-associated protein family, member 3 495 Pro-rich. epithelial cell-cell adhesion|microtubule anchoring|regulation of microtubule cytoskeleton organization|zonula adherens maintenance cytoplasm|microtubule|zonula adherens microtubule minus-end binding cervix(1)|endometrium(7)|kidney(3)|lung(6)|urinary_tract(2) 19 CCAAGCCATCCCTGGCCTCCC 0.667000 26 56 0 0 1 0 0 LRFN2 57497 broad.mit.edu 37 6 40359816 40359816 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:40359816G>A ENST00000338305.6 - 3 2778 c.2236C>T c.(2236-2238)Cgg>Tgg p.R746W NM_020737.1 NP_065788.1 Q9ULH4 LRFN2_HUMAN leucine rich repeat and fibronectin type III domain containing 2 746 cell junction|integral to membrane|postsynaptic membrane breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 58 Ovarian(28;0.0418)|Colorectal(47;0.196) GAGACCTTCCGAGGAGGACTG 0.652000 38 88 0 0 1 0 0 PLOD3 8985 broad.mit.edu 37 7 100859532 100859532 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:100859532G>A ENST00000223127.3 - 4 812 c.414C>T c.(412-414)ttC>ttT p.F138F NM_001084.4 NP_001075.1 O60568 PLOD3_HUMAN procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3 138 protein modification process rough endoplasmic reticulum membrane iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(1) 31 Lung NSC(181;0.168)|all_lung(186;0.215) Succinic acid(DB00139)|Vitamin C(DB00126) TCTCTGCAGAGAAGAGCAGGC 0.637000 26 94 0 0 1 0 0 NRK 203447 broad.mit.edu 37 X 105168911 105168911 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chrX:105168911G>A ENST00000428173.2 + 19 3506 c.3203G>A c.(3202-3204)cGa>cAa p.R1068Q NRK_ENST00000243300.9_Missense_Mutation_p.R1067Q Q7Z2Y5 NRK_HUMAN Nik related kinase 1067 ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2) 76 GGAGTCGTTCGAACCAGTGAA 0.493000 HNSCC(51;0.14) 36 16 0 0 1 0 0 ZNF836 162962 broad.mit.edu 37 19 52659147 52659147 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:52659147G>A ENST00000322146.8 - 5 2310 c.1789C>T c.(1789-1791)Cta>Tta p.L597L CTC-471J1.8_ENST00000594362.1_RNA|ZNF836_ENST00000597252.1_Silent_p.L597L NM_001102657.1 NP_001096127.1 Q6ZNA1 ZN836_HUMAN zinc finger protein 836 597 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 26 TGACGTGCTAGGCATGAGTAG 0.393000 9 288 0 0 1 0 0 PIK3C2G 5288 broad.mit.edu 37 12 18715665 18715665 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:18715665C>T ENST00000433979.1 + 26 3612 c.3496C>T c.(3496-3498)Cct>Tct p.P1166S PIK3C2G_ENST00000538779.1_Missense_Mutation_p.P1207S|PIK3C2G_ENST00000266497.5_Missense_Mutation_p.P1166S NM_004570.4 NP_004561.3 O75747 P3C2G_HUMAN phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma 1166 PI3K/PI4K. cell communication|phosphatidylinositol-mediated signaling membrane|phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1) 66 Hepatocellular(102;0.194) GGAGTGTTTCCCTGTTAAATT 0.378000 6 9 0 0 1 0 0 FAM155A 728215 broad.mit.edu 37 13 108518339 108518339 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr13:108518339C>T ENST00000375915.2 - 1 744 c.606G>A c.(604-606)ggG>ggA p.G202G NM_001080396.2 NP_001073865.1 B1AL88 F155A_HUMAN family with sequence similarity 155, member A 202 integral to membrane binding breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 33 CCTGCCCGTCCCCCCCGGCCG 0.602000 53 75 0 0 1 0 0 CPXCR1 53336 broad.mit.edu 37 X 88009185 88009185 + Missense_Mutation SNP T T C TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chrX:88009185T>C ENST00000276127.4 + 3 1029 c.770T>C c.(769-771)tTg>tCg p.L257S CPXCR1_ENST00000373111.1_Missense_Mutation_p.L257S NM_033048.5 NP_149037.4 Q8N123 CPXCR_HUMAN CPX chromosome region, candidate 1 257 intracellular zinc ion binding NS(1)|cervix(1)|kidney(1)|large_intestine(11)|liver(1)|lung(20)|ovary(3)|upper_aerodigestive_tract(2) 40 GTGGATATATTGACATATATC 0.333000 11 6 0 0 1 0 0 FAM84B 157638 broad.mit.edu 37 8 127569214 127569214 + Nonsense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:127569214G>A ENST00000304916.3 - 2 876 c.421C>T c.(421-423)Cag>Tag p.Q141* RP11-103H7.5_ENST00000524320.1_RNA NM_174911.4 NP_777571.1 Q96KN1 FA84B_HUMAN family with sequence similarity 84, member B 141 cytoplasm|plasma membrane protein binding lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 5 Ovarian(5;9.43e-05)|Esophageal squamous(12;0.0012)|Hepatocellular(40;0.128)|Myeloproliferative disorder(2;0.135) STAD - Stomach adenocarcinoma(47;0.000556)|Colorectal(2;0.0102)|Lung(2;0.0136)|READ - Rectum adenocarcinoma(2;0.0723) TGCACCACCTGGAAGTTACCC 0.617000 31 45 0 0 1 0 0 SLC6A16 28968 broad.mit.edu 37 19 49812277 49812277 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:49812277G>A ENST00000454748.3 - 7 1286 c.1085C>T c.(1084-1086)tCc>tTc p.S362F SLC6A16_ENST00000335875.4_Missense_Mutation_p.S362F Q9GZN6 S6A16_HUMAN solute carrier family 6, member 16 362 integral to membrane|intracellular neurotransmitter:sodium symporter activity NS(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 32 all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392) OV - Ovarian serous cystadenocarcinoma(262;0.00099)|GBM - Glioblastoma multiforme(486;0.0336) GGGCATGTAGGAGGCTAAGGA 0.473000 62 120 0 0 1 0 0 BTNL9 153579 broad.mit.edu 37 5 180475255 180475255 + Nonsense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:180475255G>A ENST00000327705.9 + 3 669 c.438G>A c.(436-438)tgG>tgA p.W146* BTNL9_ENST00000376841.2_Nonsense_Mutation_p.W146*|BTNL9_ENST00000376842.3_Nonsense_Mutation_p.W146*|BTNL9_ENST00000515271.1_Nonsense_Mutation_p.W77* NM_152547.4 NP_689760.2 Q6UXG8 BTNL9_HUMAN butyrophilin-like 9 146 integral to membrane p.W146*(1) breast(2)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(10)|ovary(1) 19 all_cancers(89;2.45e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114) all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) AAGCTCTCTGGGAACTGGAGG 0.572000 21 55 0 0 1 0 0 NEB 4703 broad.mit.edu 37 2 152522845 152522845 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:152522845G>A ENST00000397345.3 - 41 4992 c.4790C>T c.(4789-4791)cCt>cTt p.P1597L NEB_ENST00000604864.1_Missense_Mutation_p.P1597L|NEB_ENST00000603639.1_Missense_Mutation_p.P1597L|NEB_ENST00000172853.10_Missense_Mutation_p.P1597L|NEB_ENST00000427231.2_Missense_Mutation_p.P1597L|NEB_ENST00000409198.1_Missense_Mutation_p.P1597L NM_001164508.1 NP_001157980.1 P20929 NEBU_HUMAN nebulin 1597 muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development actin cytoskeleton|cytosol|Z disc actin binding|structural constituent of muscle NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2) 301 BRCA - Breast invasive adenocarcinoma(221;0.219) AACCAGTTTAGGATCATCCTG 0.433000 50 122 0 0 1 0 0 DNAH2 146754 broad.mit.edu 37 17 7701960 7701960 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:7701960C>T ENST00000572933.1 + 55 9943 c.8483C>T c.(8482-8484)tCc>tTc p.S2828F DNAH2_ENST00000389173.2_Missense_Mutation_p.S2828F Q9P225 DYH2_HUMAN dynein, axonemal, heavy chain 2 2828 AAA 4 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1) 189 all_cancers(10;4.66e-07)|Prostate(122;0.081) GCTGATGAGTCCTTCCTAGAG 0.522000 32 85 0 0 1 0 0 PCDHA12 56137 broad.mit.edu 37 5 140256141 140256141 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:140256141G>A ENST00000398631.2 + 1 1084 c.1084G>A c.(1084-1086)Gat>Aat p.D362N PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000530339.1_Intron NM_018903.2|NM_031864.1 NP_061726.1|NP_114070.1 NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1) 78 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGTGCAAGAGGATGCTCAGGT 0.527000 8 88 0 0 1 0 0 PTN 5764 broad.mit.edu 37 7 136939655 136939655 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:136939655G>A ENST00000348225.2 - 2 493 c.66C>T c.(64-66)ttC>ttT p.F22F PTN_ENST00000393083.2_Silent_p.F22F NM_002825.5 NP_002816.1 P21246 PTN_HUMAN pleiotrophin 22 nervous system development|positive regulation of cell division|positive regulation of cell proliferation|transmembrane receptor protein tyrosine phosphatase signaling pathway endoplasmic reticulum|extracellular space growth factor activity|heparin binding|protein phosphatase inhibitor activity p.F22F(1) NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 23 CTGCCAGTATGAAAATGAATG 0.458000 7 102 0 0 1 0 0 HMCN1 83872 broad.mit.edu 37 1 186083152 186083152 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:186083152C>T ENST00000271588.4 + 73 11402 c.11173C>T c.(11173-11175)Ctt>Ttt p.L3725F HMCN1_ENST00000367492.2_Missense_Mutation_p.L3725F NM_031935.2 NP_114141.2 Q96RW7 HMCN1_HUMAN hemicentin 1 3725 Ig-like C2-type 36. response to stimulus|visual perception basement membrane calcium ion binding NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18) 308 CCTTGTAATTCTTTTAAATAA 0.423000 7 312 0 0 1 0 0 PLCB3 5331 broad.mit.edu 37 11 64022382 64022382 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:64022382C>T ENST00000540288.1 + 4 362 c.259C>T c.(259-261)Cgg>Tgg p.R87W PLCB3_ENST00000279230.6_Missense_Mutation_p.R87W|PLCB3_ENST00000325234.5_Intron NM_000932.2 NP_000923.1 Q01970 PLCB3_HUMAN phospholipase C, beta 3 (phosphatidylinositol-specific) 87 intracellular signal transduction|lipid catabolic process|synaptic transmission cytosol calcium ion binding|calmodulin binding|phosphatidylinositol phospholipase C activity|signal transducer activity breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|urinary_tract(1) 33 CCCCAAGATCCGGGAAGTTCT 0.607000 26 47 0 0 1 0 0 SPDYE1 285955 broad.mit.edu 37 7 44044775 44044775 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:44044775G>A ENST00000258704.3 + 4 718 c.581G>A c.(580-582)cGa>cAa p.R194Q AC004951.6_ENST00000447643.1_RNA|POLR2J4_ENST00000427076.1_RNA NM_001099435.2|NM_175064.2 NP_001092905.2|NP_778234.2 Q8NFV5 SPDE1_HUMAN speedy/RINGO cell cycle regulator family member E1 194 endometrium(1)|kidney(4)|large_intestine(2)|lung(2)|ovary(1)|prostate(1) 11 TATTTCAGCCGAGCCGGCTTC 0.517000 22 480 0 0 1 0 0 TRANK1 9881 broad.mit.edu 37 3 36898321 36898321 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:36898321C>T ENST00000429976.2 - 12 3007 c.2760G>A c.(2758-2760)cgG>cgA p.R920R TRANK1_ENST00000428977.2_Silent_p.R370R|TRANK1_ENST00000301807.6_Silent_p.R370R O15050 TRNK1_HUMAN tetratricopeptide repeat and ankyrin repeat containing 1 920 DNA repair ATP binding|ATP-dependent DNA helicase activity|DNA binding NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 73 AGGACAAGCCCCGGTTGTAGG 0.488000 39 73 0 0 1 0 0 SLC52A2 79581 broad.mit.edu 37 8 145584671 145584671 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:145584671C>T ENST00000532887.1 + 5 1917 c.1334C>T c.(1333-1335)tCc>tTc p.S445F SLC52A2_ENST00000402965.1_Missense_Mutation_p.S445F|SLC52A2_ENST00000527078.1_Missense_Mutation_p.S445F|SLC52A2_ENST00000540505.1_Missense_Mutation_p.S357F|SLC52A2_ENST00000526752.1_3'UTR|SLC52A2_ENST00000530047.1_Missense_Mutation_p.S445F|SLC52A2_ENST00000329994.2_Missense_Mutation_p.S445F Q9HAB3 RFT3_HUMAN solute carrier family 52 (riboflavin transporter), member 2 445 integral to plasma membrane receptor activity|riboflavin transporter activity CCCTGTGACTCCTGAGCCTGG 0.632000 72 130 0 0 1 0 0 CRYGS 1427 broad.mit.edu 37 3 186256505 186256505 + Missense_Mutation SNP A A T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:186256505A>T ENST00000392499.2 - 4 856 c.517T>A c.(517-519)Ttc>Atc p.F173I CRYGS_ENST00000307944.5_Missense_Mutation_p.F173I NM_017541.2 NP_060011.1 P22914 CRBS_HUMAN crystallin, gamma S 173 Beta/gamma crystallin 'Greek key' 4. structural constituent of eye lens endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2) 11 all_cancers(143;3.75e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;5.5e-22) GBM - Glioblastoma multiforme(93;0.0906) ATGCGGCGGAAAGACTGGACA 0.542000 9 126 0 0 1 0 0 TENM2 57451 broad.mit.edu 37 5 167625870 167625870 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:167625870C>T ENST00000519204.1 + 15 2668 c.2550C>T c.(2548-2550)atC>atT p.I850I TENM2_ENST00000520394.1_Silent_p.I739I|TENM2_ENST00000518659.1_Silent_p.I971I|TENM2_ENST00000545108.1_Silent_p.I971I|TENM2_ENST00000403607.2_Silent_p.I795I teneurin transmembrane protein 2 TCGACCTGATCGCAAATGGAG 0.562000 59 100 0 0 1 0 0 STXBP1 6812 broad.mit.edu 37 9 130428504 130428504 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:130428504C>T ENST00000373302.3 + 9 862 c.723C>T c.(721-723)tcC>tcT p.S241S STXBP1_ENST00000373299.1_Silent_p.S241S NM_003165.3 NP_003156.1 P61764 STXB1_HUMAN syntaxin binding protein 1 241 axon target recognition|energy reserve metabolic process|glutamate secretion|negative regulation of synaptic transmission, GABAergic|neurotransmitter secretion|platelet aggregation|platelet degranulation|protein transport|regulation of insulin secretion|regulation of synaptic vesicle priming|synaptic vesicle maturation|vesicle docking involved in exocytosis cytosol|mitochondrion|plasma membrane|platelet alpha granule|protein complex identical protein binding|syntaxin-1 binding|syntaxin-2 binding breast(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|skin(2) 23 ACCCCAGCTCCCCTGTGCTCC 0.517000 42 79 0 0 1 0 0 ENAM 10117 broad.mit.edu 37 4 71503549 71503549 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:71503549G>A ENST00000396073.3 + 8 858 c.577G>A c.(577-579)Gaa>Aaa p.E193K ENAM_ENST00000472903.1_3'UTR NM_031889.2 NP_114095.2 Q9NRM1 ENAM_HUMAN enamelin 193 bone mineralization|odontogenesis proteinaceous extracellular matrix structural constituent of tooth enamel haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2) 6 Lung(101;0.235) AATCAGCAATGAAGAAGGGGG 0.423000 48 125 0 0 1 0 0 NUP210 23225 broad.mit.edu 37 3 13359277 13359277 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:13359277G>A ENST00000254508.5 - 40 5650 c.5568C>T c.(5566-5568)ttC>ttT p.F1856F NM_024923.2 NP_079199.2 Q8TEM1 PO210_HUMAN nucleoporin 210kDa 1856 carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction endoplasmic reticulum membrane|nuclear membrane|nuclear pore NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2) 66 all_neural(104;0.187) ATGAGGCAGCGAAATCTAGGG 0.607000 6 18 0 0 1 0 0 ACTRT1 139741 broad.mit.edu 37 X 127185093 127185093 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chrX:127185093C>T ENST00000371124.3 - 1 1289 c.1093G>A c.(1093-1095)Gag>Aag p.E365K NM_138289.3 NP_612146.1 Q8TDG2 ACTT1_HUMAN actin-related protein T1 365 cytoplasm|cytoskeleton breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3) 34 GTCCCATACTCCTTGAAGTCT 0.473000 6 119 0 0 1 0 0 CCR2 729230 broad.mit.edu 37 3 46399826 46399826 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:46399826G>A ENST00000292301.4 + 2 1293 c.808G>A c.(808-810)Gaa>Aaa p.E270K CCR2_ENST00000400888.2_Missense_Mutation_p.E270K|CCR2_ENST00000445132.2_Missense_Mutation_p.E270K|CCR2_ENST00000465202.1_3'UTR NM_001123041.2 NP_001116513.2 P41597 CCR2_HUMAN chemokine (C-C motif) receptor 2 270 astrocyte cell migration|blood vessel remodeling|cellular defense response|chemokine-mediated signaling pathway|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response|interspecies interaction between organisms|JAK-STAT cascade|monocyte extravasation|negative regulation of adenylate cyclase activity|negative regulation of angiogenesis|negative regulation of eosinophil degranulation|negative regulation of type 2 immune response|positive regulation of alpha-beta T cell proliferation|positive regulation of immune complex clearance by monocytes and macrophages|positive regulation of inflammatory response|positive regulation of interferon-gamma production|positive regulation of interleukin-2 production|positive regulation of monocyte chemotaxis|positive regulation of T cell chemotaxis|positive regulation of T cell extravasation|positive regulation of T-helper 1 type immune response|positive regulation of tumor necrosis factor biosynthetic process|regulation of vascular endothelial growth factor production|T-helper 17 cell chemotaxis cytosol|dendrite|integral to plasma membrane|perikaryon|perinuclear region of cytoplasm|soluble fraction C-C chemokine receptor activity|CCR2 chemokine receptor binding|protein homodimerization activity breast(3)|endometrium(1)|large_intestine(1)|liver(2)|lung(7) 14 BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0174)|Kidney(197;0.0206) CACCTTCCAGGAATTCTTCGG 0.473000 83 128 0 0 1 0 0 WWTR1 25937 broad.mit.edu 37 3 149238730 149238730 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:149238730G>A ENST00000465804.1 - 8 1321 c.1065C>T c.(1063-1065)acC>acT p.T355T WWTR1_ENST00000360632.3_Silent_p.T355T|WWTR1_ENST00000467467.1_Silent_p.T355T NM_001168278.1 NP_001161750.1 Q9GZV5 WWTR1_HUMAN WW domain containing transcription regulator 1 355 hippo signaling cascade|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of protein kinase activity|negative regulation of protein phosphorylation|positive regulation of cell proliferation|positive regulation of epithelial to mesenchymal transition|regulation of SMAD protein import into nucleus|stem cell division|transcription, DNA-dependent cytoplasm transcription coactivator activity breast(5)|cervix(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1) 23 LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048) CAGGGAAACGGGTCTGTTGGG 0.418000 T CAMTA1 epitheliod hemangioendothelioma 74 155 0 0 1 0 0 GRIP2 80852 broad.mit.edu 37 3 14547233 14547233 + RNA SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:14547233C>T ENST00000273083.3 - 0 2527 Q9C0E4 GRIP2_HUMAN glutamate receptor interacting protein 2 synaptic transmission cytosol|plasma membrane protein binding endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1) 25 GGCTGCCCCTCAGCCAGCCAG 0.682000 5 8 0 0 1 0 0 ZC3H11A 9877 broad.mit.edu 37 1 203800805 203800805 + Silent SNP T T A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:203800805T>A ENST00000545588.1 + 8 4544 c.717T>A c.(715-717)gtT>gtA p.V239V ZC3H11A_ENST00000367210.1_Silent_p.V239V|ZC3H11A_ENST00000367212.3_Silent_p.V239V|ZC3H11A_ENST00000367214.1_Silent_p.V239V|ZC3H11A_ENST00000332127.4_Silent_p.V239V NM_001271675.1 NP_001258604.1 O75152 ZC11A_HUMAN zinc finger CCCH-type containing 11A 239 nucleic acid binding|protein binding|zinc ion binding central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 32 all_cancers(21;0.0904)|all_epithelial(62;0.234) BRCA - Breast invasive adenocarcinoma(75;0.109) CTTCAGGAGTTTCCAGTCTTT 0.408000 17 45 0 0 1 0 0 FRMPD1 22844 broad.mit.edu 37 9 37708405 37708405 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:37708405C>T ENST00000539465.1 + 4 862 c.269C>T c.(268-270)gCt>gTt p.A90V RP11-613M10.9_ENST00000540557.1_Intron|FRMPD1_ENST00000377765.3_Missense_Mutation_p.A90V Q5SYB0 FRPD1_HUMAN FERM and PDZ domain containing 1 90 PDZ. cytoskeleton|cytosol|plasma membrane NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 93 GBM - Glioblastoma multiforme(29;0.00655) GGAGGCTCTGCTCACGGCAAG 0.493000 61 101 0 0 1 0 0 FAM160B2 64760 broad.mit.edu 37 8 21951979 21951979 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:21951979C>T ENST00000289921.7 + 2 120 c.74C>T c.(73-75)gCc>gTc p.A25V NM_022749.5 NP_073586.5 Q86V87 F16B2_HUMAN family with sequence similarity 160, member B2 25 endometrium(2)|kidney(1)|lung(2)|prostate(3)|urinary_tract(1) 9 CTGCTGCAGGCCTTCGTGGAG 0.672000 8 87 0 0 1 0 0 HS3ST1 9957 broad.mit.edu 37 4 11401615 11401615 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:11401615G>A ENST00000002596.5 - 2 1189 c.15C>T c.(13-15)ctC>ctT p.L5L NM_005114.2 NP_005105.1 O14792 HS3S1_HUMAN heparan sulfate (glucosamine) 3-O-sulfotransferase 1 5 Golgi lumen|integral to membrane [heparan sulfate]-glucosamine 3-sulfotransferase 1 activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(6)|skin(3) 15 CCGCGCCCAGGAGCAGCGCGG 0.701000 5 6 0 0 1 0 0 TSIX 9383 broad.mit.edu 37 X 73043377 73043377 + RNA SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chrX:73043377G>A ENST00000604411.1 + 0 31338 XIST_ENST00000429829.1_lincRNA NR_003255.2 tttatcaaatgaatcaaAAAG 0.388000 14 7 0 0 1 0 0 OR2T12 127064 broad.mit.edu 37 1 248458245 248458245 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:248458245G>A ENST00000317996.1 - 1 635 c.636C>T c.(634-636)atC>atT p.I212I NM_001004692.1 NP_001004692.1 Q8NG77 O2T12_HUMAN olfactory receptor, family 2, subfamily T, member 12 212 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(4)|kidney(3)|large_intestine(3)|lung(25)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 43 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0201) AGGAGGACAGGATGAGGGAAA 0.547000 9 108 0 0 1 0 0 TLL1 7092 broad.mit.edu 37 4 167020465 167020465 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:167020465G>A ENST00000061240.2 + 20 3340 c.2693G>A c.(2692-2694)aGa>aAa p.R898K TLL1_ENST00000507499.1_Missense_Mutation_p.R921K NM_012464.4 NP_036596.3 O43897 TLL1_HUMAN tolloid-like 1 898 CUB 5. cell differentiation|proteolysis|skeletal system development extracellular region calcium ion binding|metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 77 all_hematologic(180;0.221) Melanoma(52;0.0315)|Prostate(90;0.0405) GBM - Glioblastoma multiforme(119;0.103) TCAAAACCAAGAGATCTGTAC 0.418000 71 113 0 0 1 0 0 C4orf6 10141 broad.mit.edu 37 4 5527148 5527148 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:5527148G>A ENST00000195455.2 + 1 266 c.91G>A c.(91-93)Gaa>Aaa p.E31K C4orf6_ENST00000515342.1_3'UTR NM_005750.2 NP_005741.1 Q99440 CD006_HUMAN chromosome 4 open reading frame 6 31 nervous system development large_intestine(1)|prostate(1) 2 atttgggaaggaaggaacacg 0.368000 4 69 0 0 1 0 0 GABRG2 2566 broad.mit.edu 37 5 161576256 161576256 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:161576256C>T ENST00000356592.3 + 8 1525 c.1065C>T c.(1063-1065)acC>acT p.T355T GABRG2_ENST00000414552.2_Silent_p.T395T|GABRG2_ENST00000393933.4_Silent_p.T260T|GABRG2_ENST00000361925.4_Silent_p.T355T NM_000816.3|NM_198904.2 NP_000807.2|NP_944494.1 P18507 GBRG2_HUMAN gamma-aminobutyric acid (GABA) A receptor, gamma 2 355 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 62 Renal(175;0.000319) Medulloblastoma(196;0.0208)|all_neural(177;0.0672) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136) AGTATGGCACCTTGCATTATT 0.418000 40 87 0 0 1 0 0 VAV3 10451 broad.mit.edu 37 1 108303444 108303444 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:108303444G>A ENST00000370056.4 - 10 1253 c.979C>T c.(979-981)Cct>Tct p.P327S VAV3_ENST00000371846.4_Missense_Mutation_p.P262S|VAV3_ENST00000343258.4_5'UTR|VAV3_ENST00000527011.1_Missense_Mutation_p.P327S NM_006113.4 NP_006104.4 Q9UKW4 VAV3_HUMAN vav 3 guanine nucleotide exchange factor 327 DH. angiogenesis|apoptosis|B cell receptor signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of B cell proliferation|regulation of Rho protein signal transduction|response to DNA damage stimulus|response to drug|small GTPase mediated signal transduction cytosol GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity NS(2)|breast(5)|endometrium(4)|kidney(2)|large_intestine(14)|lung(20)|ovary(6)|prostate(3)|stomach(1)|urinary_tract(1) 58 all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594) Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204) CGTTGCATAGGAACCACAAGC 0.323000 22 48 0 0 1 0 0 WDR90 197335 broad.mit.edu 37 16 705409 705409 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr16:705409C>T ENST00000549091.1 + 15 1751 c.1659C>T c.(1657-1659)ttC>ttT p.F553F LA16c-349E10.1_ENST00000573609.1_RNA|WDR90_ENST00000293879.4_Silent_p.F553F NM_145294.4 NP_660337.3 Q96KV7 WDR90_HUMAN WD repeat domain 90 553 endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2) 37 Hepatocellular(780;0.0218) CGCTGCAGTTCACCGACCTGG 0.731000 6 19 0 0 1 0 0 ALS2CL 259173 broad.mit.edu 37 3 46722783 46722783 + Nonsense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:46722783C>T ENST00000318962.4 - 13 1472 c.1389G>A c.(1387-1389)tgG>tgA p.W463* ALS2CL_ENST00000415953.1_Nonsense_Mutation_p.W463* NM_147129.3 NP_667340.2 Q60I27 AL2CL_HUMAN ALS2 C-terminal like 463 endosome organization|regulation of Rho protein signal transduction GTPase activator activity|identical protein binding|Rho guanyl-nucleotide exchange factor activity NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(3)|stomach(2) 29 BRCA - Breast invasive adenocarcinoma(193;0.000726)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202) GGCCCCTCTCCCAGTGGCCCG 0.667000 94 180 0 0 1 0 0 HS3ST5 222537 broad.mit.edu 37 6 114378865 114378865 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:114378865C>T ENST00000312719.5 - 5 1785 c.597G>A c.(595-597)ggG>ggA p.G199G RP3-399L15.3_ENST00000519104.1_RNA|RP3-399L15.3_ENST00000519270.1_RNA|HS3ST5_ENST00000411826.1_Silent_p.G199G|RP3-399L15.3_ENST00000523087.1_RNA Q8IZT8 HS3S5_HUMAN heparan sulfate (glucosamine) 3-O-sulfotransferase 5 199 heparan sulfate proteoglycan biosynthetic process, enzymatic modification|negative regulation of coagulation|protein sulfation|regulation of virion penetration into host cell Golgi membrane|integral to membrane 3'-phosphoadenosine 5'-phosphosulfate binding|[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity|protein binding breast(4)|endometrium(2)|kidney(1)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(3) 41 all_cancers(87;0.0587)|Colorectal(196;0.0676)|all_epithelial(87;0.154) OV - Ovarian serous cystadenocarcinoma(136;0.00937)|all cancers(137;0.0117)|Epithelial(106;0.0274)|GBM - Glioblastoma multiforme(226;0.143) TCCTCTCCTTCCCCTCTAGCA 0.403000 230 138 0 0 1 0 0 ZNF830 91603 broad.mit.edu 37 17 33289377 33289377 + Silent SNP T T C TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:33289377T>C ENST00000361952.3 + 1 829 c.792T>C c.(790-792)gaT>gaC p.D264D NM_052857.3 NP_443089.3 Q96NB3 ZN830_HUMAN zinc finger protein 830 264 cell division|mitosis cytoplasm|nucleus metal ion binding breast(1)|cervix(1)|endometrium(2)|large_intestine(1)|liver(2)|lung(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 13 Ovarian(249;0.17) GAAAGGTTGATGCTCCAAAAG 0.468000 20 75 0 0 1 0 0 SLC7A10 56301 broad.mit.edu 37 19 33703257 33703257 + Silent SNP G G A rs146655377 TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:33703257G>A ENST00000253188.3 - 5 875 c.729C>T c.(727-729)ttC>ttT p.F243F NM_019849.2 NP_062823.1 Q9NS82 AAA1_HUMAN solute carrier family 7 (neutral amino acid transporter light chain, asc system), member 10 243 blood coagulation|cellular nitrogen compound metabolic process|ion transport|leukocyte migration integral to plasma membrane L-serine transmembrane transporter activity central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1) 18 Esophageal squamous(110;0.137) CACTGAAGGCGAAGGAGCCCT 0.627000 18 33 0 0 1 0 0 ABCA3 21 broad.mit.edu 37 16 2331446 2331446 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr16:2331446C>T ENST00000301732.5 - 27 4800 c.4100G>A c.(4099-4101)cGc>cAc p.R1367H ABCA3_ENST00000382381.3_Missense_Mutation_p.R1309H NM_001089.2 NP_001080.2 Q99758 ABCA3_HUMAN ATP-binding cassette, sub-family A (ABC1), member 3 1367 response to drug integral to membrane|lamellar body|membrane fraction|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1) 70 Ovarian(90;0.17) GGCCAGGATGCGGGTCCTCTC 0.567000 4 141 0 0 1 0 0 NPAP1 23742 broad.mit.edu 37 15 24922624 24922624 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr15:24922624C>T ENST00000329468.2 + 1 2084 c.1610C>T c.(1609-1611)tCc>tTc p.S537F NM_018958.2 NP_061831.2 nuclear pore associated protein 1 CCAGTCCCTTCCACCGGGACC 0.527000 88 210 0 0 1 0 0 OR5M9 390162 broad.mit.edu 37 11 56230606 56230606 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:56230606G>A ENST00000279791.1 - 1 271 c.272C>T c.(271-273)tCc>tTc p.S91F NM_001004743.1 NP_001004743.1 Q8NGP3 OR5M9_HUMAN olfactory receptor, family 5, subfamily M, member 9 91 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2) 36 Esophageal squamous(21;0.00448) TCCCACATAGGAAATGGTTTT 0.473000 42 87 0 0 1 0 0 USP17L2 377630 broad.mit.edu 37 8 11996187 11996187 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:11996187G>A ENST00000333796.3 - 1 399 c.83C>T c.(82-84)gCt>gTt p.A28V FAM66D_ENST00000434078.2_RNA NM_001256869.1|NM_001256871.1|NM_001256872.1|NM_001256873.1|NM_001256874.1|NM_201402.2 NP_001243798.1|NP_001243800.1|NP_001243801.1|NP_001243802.1|NP_001243803.1|NP_958804.2 Q6R6M4 U17L2_HUMAN ubiquitin specific peptidase 17-like family member 2 28 apoptosis|cell cycle|G2/M transition checkpoint|mitotic cell cycle G1/S transition checkpoint|protein deubiquitination|ubiquitin-dependent protein catabolic process nucleus ubiquitin thiolesterase activity|ubiquitin-specific protease activity central_nervous_system(1)|kidney(1)|large_intestine(11)|liver(1)|lung(8)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 29 TTCAGCAAAAGCTGCATCTGG 0.527000 32 205 0 0 1 0 0 CTNND2 1501 broad.mit.edu 37 5 11412162 11412162 + Nonsense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:11412162G>A ENST00000304623.8 - 4 496 c.307C>T c.(307-309)Cag>Tag p.Q103* CTNND2_ENST00000503622.1_Nonsense_Mutation_p.Q12*|CTNND2_ENST00000359640.2_Nonsense_Mutation_p.Q103*|CTNND2_ENST00000458100.2_5'UTR|CTNND2_ENST00000511377.1_Nonsense_Mutation_p.Q12* NM_001332.2 NP_001323.1 Q9UQB3 CTND2_HUMAN catenin (cadherin-associated protein), delta 2 103 multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent adherens junction|cytoplasm|nucleus protein binding NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2) 136 GACTGCCACTGAAACTGCTCT 0.313000 47 40 0 0 1 0 0 IKZF2 22807 broad.mit.edu 37 2 213872177 213872177 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:213872177C>T ENST00000457361.1 - 8 1656 c.1488G>A c.(1486-1488)cgG>cgA p.R496R IKZF2_ENST00000374327.4_Silent_p.R351R|IKZF2_ENST00000434687.1_Silent_p.R496R|IKZF2_ENST00000342002.2_Silent_p.R502R|IKZF2_ENST00000413091.3_3'UTR|IKZF2_ENST00000421754.2_Silent_p.R422R|IKZF2_ENST00000451136.2_Silent_p.R424R|IKZF2_ENST00000374319.4_Silent_p.R470R NM_016260.2 NP_057344.2 Q9UKS7 IKZF2_HUMAN IKAROS family zinc finger 2 (Helios) 496 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 Esophageal squamous(248;0.0559)|Renal(323;0.218) UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;2.97e-07)|all cancers(144;1.53e-05)|LUSC - Lung squamous cell carcinoma(224;0.00599)|Lung(261;0.00792) CCAGTGGGTCCCGGTAGCCAT 0.502000 62 128 0 0 1 0 0 OR4A16 81327 broad.mit.edu 37 11 55110832 55110832 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:55110832C>T ENST00000314721.2 + 1 206 c.156C>T c.(154-156)tcC>tcT p.S52S NM_001005274.1 NP_001005274.1 Q8NH70 O4A16_HUMAN olfactory receptor, family 4, subfamily A, member 16 52 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 51 GCAGCCCCTCCTTGGGCTCCC 0.413000 14 197 0 0 1 0 0 TAF11 6882 broad.mit.edu 37 6 34847785 34847785 + Missense_Mutation SNP G G A rs11537996 byFrequency TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:34847785G>A ENST00000361288.4 - 4 595 c.464C>T c.(463-465)tCt>tTt p.S155F TAF11_ENST00000420584.2_Intron|UHRF1BP1_ENST00000452449.2_Splice_Site NM_005643.3 NP_005634.1 Q15544 TAF11_HUMAN TAF11 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 28kDa 155 S -> F (in dbSNP:rs11537996). positive regulation by host of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction transcription factor TFIID complex protein N-terminus binding|thyroid hormone receptor binding|transcription coactivator activity|vitamin D receptor binding endometrium(2)|kidney(1)|large_intestine(2)|lung(1) 6 GGAAATACCAGACATAGCAAT 0.423000 19 63 0 0 1 0 0 LRRC16A 55604 broad.mit.edu 37 6 25605104 25605104 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:25605104C>T ENST00000329474.6 + 34 3985 c.3617C>T c.(3616-3618)tCg>tTg p.S1206L NM_001173977.1|NM_017640.5 NP_001167448.1|NP_060110.4 Q5VZK9 LR16A_HUMAN leucine rich repeat containing 16A 1206 actin filament organization|blood coagulation|cell migration|lamellipodium assembly|ruffle organization|urate metabolic process cytosol|lamellipodium|nucleus breast(4)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 50 GTAGAACGGTCGGATGGAGGT 0.498000 4 17 0 0 1 0 0 HSF5 124535 broad.mit.edu 37 17 56565592 56565592 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:56565592G>A ENST00000323777.3 - 1 153 c.44C>T c.(43-45)cCc>cTc p.P15L NM_001080439.1 NP_001073908.1 Q4G112 HSF5_HUMAN heat shock transcription factor family member 5 15 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|skin(1) 16 Medulloblastoma(34;0.127)|all_neural(34;0.237) CAGCTTGGCGGGGAAGTTGTT 0.711000 15 59 0 0 1 0 0 CLEC6A 93978 broad.mit.edu 37 12 8628803 8628803 + Nonsense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:8628803G>A ENST00000382073.3 + 5 638 c.452G>A c.(451-453)tGg>tAg p.W151* NM_001007033.1 NP_001007034.1 Q6EIG7 CLC6A_HUMAN C-type lectin domain family 6, member A 151 C-type lectin. defense response to fungus|innate immune response|positive regulation of cytokine secretion|positive regulation of I-kappaB kinase/NF-kappaB cascade integral to membrane sugar binding breast(1)|large_intestine(2)|lung(7) 10 Lung SC(5;0.184) aattggcaatggattgataag 0.363000 37 84 0 0 1 0 0 DNAJC28 54943 broad.mit.edu 37 21 34861300 34861300 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr21:34861300C>T ENST00000314399.3 - 2 839 c.401G>A c.(400-402)cGa>cAa p.R134Q DNAJC28_ENST00000402202.1_Missense_Mutation_p.R134Q|DNAJC28_ENST00000381947.3_Missense_Mutation_p.R134Q NM_017833.3 NP_060303.2 Q9NX36 DJC28_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 28 134 heat shock protein binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(5)|skin(1)|urinary_tract(1) 18 TAAATAATGTCGGTGTTGGGG 0.398000 45 93 0 0 1 0 0 ITGB4 3691 broad.mit.edu 37 17 73753181 73753181 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:73753181G>A ENST00000200181.3 + 38 5398 c.5211G>A c.(5209-5211)caG>caA p.Q1737Q ITGB4_ENST00000449880.2_Silent_p.Q1720Q|GALK1_ENST00000225614.2_Intron|ITGB4_ENST00000339591.3_Silent_p.Q1720Q|ITGB4_ENST00000579662.1_Silent_p.Q1667Q|ITGB4_ENST00000450894.3_Silent_p.Q1667Q NM_000213.3 NP_000204.3 P16144 ITB4_HUMAN integrin, beta 4 1737 cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding cell leading edge|cell surface|hemidesmosome|integrin complex protein binding|receptor activity breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1) 43 all_cancers(13;1.5e-07) all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154) TAGAGTCCCAGGATGGAGGTA 0.647000 41 136 0 0 1 0 0 DSC1 1823 broad.mit.edu 37 18 28739474 28739474 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr18:28739474C>T ENST00000257197.3 - 2 343 c.82G>A c.(82-84)Gat>Aat p.D28N RP11-408H20.2_ENST00000581836.1_RNA|DSC1_ENST00000257198.5_Missense_Mutation_p.D28N NM_004948.3 NP_004939.1 Q08554 DSC1_HUMAN desmocollin 1 28 homophilic cell adhesion desmosome|gap junction|integral to membrane|membrane fraction calcium ion binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 53 OV - Ovarian serous cystadenocarcinoma(10;0.00778) TGACAAGCATCGCAAAGTAAT 0.299000 13 35 0 0 1 0 0 GALR1 2587 broad.mit.edu 37 18 74963080 74963080 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr18:74963080C>T ENST00000299727.3 + 1 576 c.576C>T c.(574-576)ccC>ccT p.P192P NM_001480.3 NP_001471.2 P47211 GALR1_HUMAN galanin receptor 1 192 digestion|negative regulation of adenylate cyclase activity integral to membrane|plasma membrane galanin receptor activity breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 24 Prostate(75;0.0865)|Esophageal squamous(42;0.129)|Melanoma(33;0.211) OV - Ovarian serous cystadenocarcinoma(15;1.03e-06)|BRCA - Breast invasive adenocarcinoma(31;0.104) AGCAGTGGCCCGACCCTCGCC 0.657000 58 127 0 0 1 0 0 PTCH1 5727 broad.mit.edu 37 9 98229541 98229541 + Missense_Mutation SNP A A G TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:98229541A>G ENST00000430669.2 - 15 2804 c.2219T>C c.(2218-2220)gTc>gCc p.V740A PTCH1_ENST00000375274.2_Missense_Mutation_p.V805A|PTCH1_ENST00000331920.6_Missense_Mutation_p.V806A|PTCH1_ENST00000421141.1_Missense_Mutation_p.V655A|PTCH1_ENST00000437951.1_Missense_Mutation_p.V740A|PTCH1_ENST00000429896.2_Missense_Mutation_p.V655A|PTCH1_ENST00000418258.1_Missense_Mutation_p.V655A Q13635 PTC1_HUMAN patched 1 806 embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway integral to plasma membrane hedgehog receptor activity NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1) 490 Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136) TTTCTGGGTGACTATATACAT 0.413000 68 160 0 0 1 0 0 OR4L1 122742 broad.mit.edu 37 14 20528660 20528660 + Missense_Mutation SNP T T A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr14:20528660T>A ENST00000315683.1 + 1 457 c.457T>A c.(457-459)Ttt>Att p.F153I NM_001004717.1 NP_001004717.1 Q8NH43 OR4L1_HUMAN olfactory receptor, family 4, subfamily L, member 1 153 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(16)|ovary(2)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 all_cancers(95;0.00108) Epithelial(56;4.65e-07)|all cancers(55;2.9e-06) GBM - Glioblastoma multiforme(265;0.0064) GATAATTGGTTTTTTACACTC 0.393000 56 107 0 0 1 0 0 PTCHD2 57540 broad.mit.edu 37 1 11579867 11579867 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:11579867C>T ENST00000294484.6 + 9 2268 c.2130C>T c.(2128-2130)atC>atT p.I710I PTCHD2_ENST00000389575.3_Silent_p.I710I NM_020780.1 NP_065831.1 Q9P2K9 PTHD2_HUMAN patched domain containing 2 710 cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway endoplasmic reticulum|integral to membrane|nuclear membrane hedgehog receptor activity NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 76 Ovarian(185;0.249) Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549) GCCATCTCATCGTGCAGCTGC 0.672000 56 109 0 0 1 0 0 CYP8B1 1582 broad.mit.edu 37 3 42917090 42917090 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:42917090C>T ENST00000316161.4 - 1 543 c.219G>A c.(217-219)ggG>ggA p.G73G KRBOX1_ENST00000426937.1_Intron|CYP8B1_ENST00000437102.1_Silent_p.G73G|ACKR2_ENST00000471537.1_Intron NM_004391.2 NP_004382.2 Q9UNU6 CP8B1_HUMAN cytochrome P450, family 8, subfamily B, polypeptide 1 73 bile acid biosynthetic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome 7alpha-hydroxycholest-4-en-3-one 12alpha-hydroxylase activity|electron carrier activity|heme binding|oxygen binding|sterol 12-alpha-hydroxylase activity NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|prostate(2)|skin(5) 23 KIRC - Kidney renal clear cell carcinoma(284;0.213)|Kidney(284;0.249) AGTACTGGCCCCCTAGCTGCA 0.507000 35 71 0 0 1 0 0 ARID4B 51742 broad.mit.edu 37 1 235383200 235383200 + Silent SNP A A G TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:235383200A>G ENST00000264183.3 - 16 1988 c.1491T>C c.(1489-1491)aaT>aaC p.N497N ARID4B_ENST00000349213.3_Silent_p.N497N|ARID4B_ENST00000366603.2_Silent_p.N497N NM_016374.5 NP_057458.4 Q4LE39 ARI4B_HUMAN AT rich interactive domain 4B (RBP1-like) 497 Glu-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|protein binding NS(1)|breast(2)|large_intestine(2)|lung(1)|ovary(2) 8 Ovarian(103;0.0473)|Breast(184;0.23) all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24) OV - Ovarian serous cystadenocarcinoma(106;2.86e-05) CCAGATTTTCATTGTCTTCTG 0.333000 9 115 0 0 1 0 0 OAZ3 51686 broad.mit.edu 37 1 151739744 151739744 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:151739744G>A ENST00000321531.5 + 3 304 c.137G>A c.(136-138)gGt>gAt p.G46D OAZ3_ENST00000400999.1_5'UTR|OAZ3_ENST00000453029.2_Missense_Mutation_p.G59D|RP11-98D18.3_ENST00000512280.1_RNA|OAZ3_ENST00000315067.8_Missense_Mutation_p.G46D|OAZ3_ENST00000577465.1_3'UTR|OAZ3_ENST00000479764.1_5'UTR Q9UMX2 OAZ3_HUMAN ornithine decarboxylase antizyme 3 43 cellular nitrogen compound metabolic process|regulation of cellular amino acid metabolic process|spermatogenesis cytosol|nucleus ornithine decarboxylase inhibitor activity endometrium(2)|kidney(2)|large_intestine(1)|lung(4) 9 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14) LUSC - Lung squamous cell carcinoma(543;0.181) L-Ornithine(DB00129) ACCGAGCAGGGTAACCACGAC 0.542000 5 173 0 0 1 0 0 RCN1 5954 broad.mit.edu 37 11 32120026 32120026 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:32120026C>T ENST00000054950.3 + 3 872 c.579C>T c.(577-579)gcC>gcT p.A193A RP1-65P5.3_ENST00000533009.1_RNA|RCN1_ENST00000532942.1_Silent_p.A142A NM_002901.2 NP_002892.1 Q15293 RCN1_HUMAN reticulocalbin 1, EF-hand calcium binding domain 193 EF-hand 3. endoplasmic reticulum lumen calcium ion binding breast(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(6) 17 Lung SC(675;0.225) AGTTCACTGCCTTTCTGCATC 0.458000 24 57 0 0 1 0 0 PPM1A 5494 broad.mit.edu 37 14 60758132 60758132 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr14:60758132C>T ENST00000395076.4 + 5 1509 c.1079C>T c.(1078-1080)gCc>gTc p.A360V PPM1A_ENST00000529574.1_Missense_Mutation_p.A360V|PPM1A_ENST00000325642.3_Missense_Mutation_p.A433V NM_021003.4 NP_066283.1 P35813 PPM1A_HUMAN protein phosphatase, Mg2+/Mn2+ dependent, 1A 360 cell cycle arrest|insulin receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway|protein dephosphorylation|Wnt receptor signaling pathway cytosol|nucleus|protein serine/threonine phosphatase complex magnesium ion binding|manganese ion binding|protein serine/threonine phosphatase activity|signal transducer activity cervix(1)|endometrium(1)|large_intestine(8)|lung(2)|skin(1)|upper_aerodigestive_tract(1) 14 OV - Ovarian serous cystadenocarcinoma(108;0.046) GTTATTGAAGCCGTTTACAAT 0.353000 24 69 0 0 1 0 0 CR1 1378 broad.mit.edu 37 1 207741350 207741350 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:207741350G>A ENST00000367049.4 + 25 4134 c.4134G>A c.(4132-4134)ggG>ggA p.G1378G CR1_ENST00000400960.2_Silent_p.G928G|CR1_ENST00000367052.1_Intron|CR1_ENST00000367053.1_Silent_p.G928G|RP11-78B10.2_ENST00000597497.1_RNA|CR1_ENST00000367051.1_Silent_p.G928G NM_000651.4 NP_000642.3 P17927 CR1_HUMAN complement component (3b/4b) receptor 1 (Knops blood group) 928 Sushi 21. complement activation, classical pathway|innate immune response integral to plasma membrane complement receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 82 AAGGGAATGGGGTTTGGAGCA 0.542000 81 112 0 0 1 0 0 OR2J2 26707 broad.mit.edu 37 6 29141897 29141897 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:29141897C>T ENST00000377167.2 + 1 587 c.485C>T c.(484-486)tCc>tTc p.S162F NM_030905.2 NP_112167.2 O76002 OR2J2_HUMAN olfactory receptor, family 2, subfamily J, member 2 162 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(17)|ovary(1)|upper_aerodigestive_tract(1) 25 CTTCATTCCTCCTTTACTTTC 0.468000 175 200 0 0 1 0 0 FAM83B 222584 broad.mit.edu 37 6 54804573 54804573 + Silent SNP C C T rs142915319 byFrequency TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:54804573C>T ENST00000306858.7 + 5 920 c.804C>T c.(802-804)tcC>tcT p.S268S NM_001010872.1 NP_001010872.1 Q5T0W9 FA83B_HUMAN family with sequence similarity 83, member B 268 autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1) 71 Lung NSC(77;0.0178)|Renal(3;0.122) TTGTTGAGTCCTTTGATGAAG 0.403000 39 118 0 0 1 0 0 RNF217 154214 broad.mit.edu 37 6 125397816 125397816 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:125397816G>A ENST00000521654.2 + 4 1295 c.1295G>A c.(1294-1296)cGa>cAa p.R432Q RNF217_ENST00000368414.2_5'UTR|RNF217_ENST00000560949.1_Missense_Mutation_p.R197Q|RNF217_ENST00000359704.2_Missense_Mutation_p.R140Q|RNF217_ENST00000275184.6_Missense_Mutation_p.R76Q Q8TC41 RN217_HUMAN ring finger protein 217 140 protein ubiquitination involved in ubiquitin-dependent protein catabolic process integral to membrane ubiquitin-protein ligase activity|zinc ion binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(1) 11 LUSC - Lung squamous cell carcinoma(4;0.0263)|Lung(4;0.0828) GBM - Glioblastoma multiforme(226;0.0162) CACATCCAGCGAACTGAAGGA 0.413000 21 53 0 0 1 0 0 CABP4 57010 broad.mit.edu 37 11 67223203 67223203 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:67223203C>T ENST00000325656.5 + 1 386 c.309C>T c.(307-309)tcC>tcT p.S103S CABP4_ENST00000542025.2_3'UTR|CABP4_ENST00000438189.2_5'UTR NM_145200.3 NP_660201.1 P57796 CABP4_HUMAN calcium binding protein 4 103 visual perception cytoplasm|extracellular region|terminal button calcium ion binding central_nervous_system(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(2) 11 BRCA - Breast invasive adenocarcinoma(15;8.18e-06) GTCCTGACTCCCTGCACGACG 0.677000 12 11 0 0 1 0 0 PLCXD3 345557 broad.mit.edu 37 5 41382463 41382463 + Missense_Mutation SNP G G A rs138399387 TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:41382463G>A ENST00000377801.3 - 2 351 c.277C>T c.(277-279)Cgt>Tgt p.R93C PLCXD3_ENST00000328457.3_Missense_Mutation_p.R93C Q63HM9 PLCX3_HUMAN phosphatidylinositol-specific phospholipase C, X domain containing 3 93 PI-PLC X-box. intracellular signal transduction|lipid catabolic process phospholipase C activity|signal transducer activity central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 37 TCAAAATAACGAATTCCAGCT 0.438000 35 101 0 0 1 0 0 MCU 90550 broad.mit.edu 37 10 74644072 74644072 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:74644072C>T ENST00000536019.1 + 7 1208 c.763C>T c.(763-765)Cat>Tat p.H255Y MCU_ENST00000357157.6_Missense_Mutation_p.H283Y|MCU_ENST00000373053.3_Missense_Mutation_p.H304Y|MCU_ENST00000605416.1_3'UTR NM_001270680.1 NP_001257609.1 Q8NE86 MCU_HUMAN mitochondrial calcium uniporter 304 elevation of mitochondrial calcium ion concentration|mitochondrial calcium ion transport|protein complex oligomerization integral to membrane|mitochondrial inner membrane protein binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|urinary_tract(1) 14 ACTATTTTTCCATAAAGGAGC 0.328000 7 97 0 0 1 0 0 ZNF407 55628 broad.mit.edu 37 18 72346708 72346708 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr18:72346708C>T ENST00000299687.5 + 1 3733 c.3733C>T c.(3733-3735)Ccc>Tcc p.P1245S ZNF407_ENST00000577538.1_Missense_Mutation_p.P1245S|ZNF407_ENST00000309902.6_Missense_Mutation_p.P1245S|ZNF407_ENST00000582337.1_Missense_Mutation_p.P1245S NM_017757.2 NP_060227.2 Q9C0G0 ZN407_HUMAN zinc finger protein 407 1245 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2) 67 Esophageal squamous(42;0.131)|Prostate(75;0.173) BRCA - Breast invasive adenocarcinoma(31;0.184) AGGTGTTGTCCCCCACAGACA 0.542000 16 52 0 0 1 0 0 CD180 4064 broad.mit.edu 37 5 66479157 66479157 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:66479157G>A ENST00000256447.4 - 3 1671 c.1514C>T c.(1513-1515)tCt>tTt p.S505F NM_005582.2 NP_005573.2 Q99467 CD180_HUMAN CD180 molecule 505 inflammatory response|innate immune response integral to membrane|plasma membrane receptor activity cervix(1)|endometrium(2)|kidney(7)|large_intestine(12)|liver(1)|lung(8)|ovary(1)|stomach(2) 34 Lung NSC(167;4.94e-05)|Prostate(74;0.00601)|Ovarian(174;0.0654)|Breast(144;0.198)|Colorectal(97;0.234) Lung(70;0.0046) GAGACCACAAGAGGACAAAAT 0.473000 27 46 0 0 1 0 0 KIR2DL3 3804 broad.mit.edu 37 19 55263189 55263189 + Nonsense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:55263189G>A ENST00000342376.3 + 6 835 c.804G>A c.(802-804)tgG>tgA p.W268* CTB-61M7.1_ENST00000400864.3_RNA|KIR2DL4_ENST00000396284.2_Intron|KIR2DL3_ENST00000434419.2_Intron|KIR3DL1_ENST00000402254.2_Intron|KIR3DL1_ENST00000538269.1_Intron|KIR3DL1_ENST00000541392.1_Intron NM_015868.2 NP_056952.2 killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 3 breast(1)|cervix(1)|large_intestine(1)|lung(11)|ovary(3)|pancreas(1)|skin(2)|urinary_tract(1) 21 GBM - Glioblastoma multiforme(193;0.0192) ttcATCGCTGGTGCTGCAACA 0.527000 41 82 0 0 1 0 0 SLIT2 9353 broad.mit.edu 37 4 20598114 20598114 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:20598114G>A ENST00000504154.1 + 32 3649 c.3397G>A c.(3397-3399)Gga>Aga p.G1133R SLIT2_ENST00000273739.5_Missense_Mutation_p.G1146R|SLIT2_ENST00000503823.1_Missense_Mutation_p.G1125R|SLIT2_ENST00000503837.1_Missense_Mutation_p.G1129R NM_004787.1 NP_004778.1 O94813 SLIT2_HUMAN slit homolog 2 (Drosophila) 1133 EGF-like 6. apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development cell surface|cytoplasm|extracellular space|plasma membrane calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding p.G1133*(1) NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1) 116 TTGTCAGAATGGAGCTCAGTG 0.398000 32 90 0 0 1 0 0 HMCN1 83872 broad.mit.edu 37 1 186089151 186089151 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:186089151C>T ENST00000271588.4 + 80 12332 c.12103C>T c.(12103-12105)Cat>Tat p.H4035Y HMCN1_ENST00000367492.2_Missense_Mutation_p.H4035Y NM_031935.2 NP_114141.2 Q96RW7 HMCN1_HUMAN hemicentin 1 4035 Ig-like C2-type 39. response to stimulus|visual perception basement membrane calcium ion binding NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18) 308 AGGCAGAAACCATGCAGTTCT 0.453000 35 142 0 0 1 0 0 PRKD3 23683 broad.mit.edu 37 2 37480408 37480408 + Nonsense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:37480408C>T ENST00000379066.1 - 19 3347 c.2585G>A c.(2584-2586)tGg>tAg p.W862* PRKD3_ENST00000234179.2_Nonsense_Mutation_p.W862* O94806 KPCD3_HUMAN protein kinase D3 862 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction cytoplasm|membrane|nucleus ATP binding|metal ion binding|protein binding|protein kinase C activity breast(3)|central_nervous_system(2)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 33 all_hematologic(82;0.21) ATGTATTTCCCAGCGAGCATC 0.393000 47 82 0 0 1 0 0 STRA13 201254 broad.mit.edu 37 17 79980701 79980701 + Splice_Site SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:79980701C>T ENST00000392359.3 - 1 93 c.e1+1 STRA13_ENST00000584347.1_Splice_Site|STRA13_ENST00000583767.1_5'UTR|STRA13_ENST00000306704.6_Splice_Site|STRA13_ENST00000580435.1_Splice_Site NM_001271006.1 NP_001257935.1 A8MT69 CENPX_HUMAN stimulated by retinoic acid 13 DNA repair chromosome, centromeric region|Fanconi anaemia nuclear complex DNA binding|protein binding all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246) BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191) CCGGCCCTCACCTTCCGGAAG 0.741000 7 24 0 0 1 0 0 CDK12 51755 broad.mit.edu 37 17 37627264 37627264 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:37627264C>T ENST00000447079.4 + 2 1212 c.1179C>T c.(1177-1179)tcC>tcT p.S393S CDK12_ENST00000430627.2_Silent_p.S393S NM_015083.1|NM_016507.2 NP_055898.1|NP_057591.2 Q9NYV4 CDK12_HUMAN cyclin-dependent kinase 12 393 mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3) 70 CACTTAATTCCAGTCTGGGAG 0.448000 """Mis, N, F""" serous ovarian TCGA Ovarian(9;0.13) 39 67 0 0 1 0 0 OR10J5 127385 broad.mit.edu 37 1 159505705 159505705 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:159505705G>A ENST00000334857.2 - 1 137 c.93C>T c.(91-93)ttC>ttT p.F31F NM_001004469.1 NP_001004469.1 Q8NHC4 O10J5_HUMAN olfactory receptor, family 10, subfamily J, member 5 31 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 22 all_hematologic(112;0.0429) AGACAGTTAGGAAAACCACAA 0.378000 91 118 0 0 1 0 0 TTBK1 84630 broad.mit.edu 37 6 43226777 43226777 + Splice_Site SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:43226777G>A ENST00000259750.4 + 11 1101 c.1016_splice c.e11-1 p.V340_splice TTBK1_ENST00000304139.5_Splice_Site_p.V289_splice NM_032538.1 NP_115927.1 Q5TCY1 TTBK1_HUMAN tau tubulin kinase 1 340 cell junction|cytoplasm|nucleus ATP binding|protein binding|protein serine/threonine kinase activity breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 53 Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399) CCTCTCCAGGGTGGTCAATGT 0.642000 15 53 0 0 1 0 0 NPSR1 387129 broad.mit.edu 37 7 34698142 34698142 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:34698142G>A ENST00000360581.1 + 1 246 c.118G>A c.(118-120)Gaa>Aaa p.E40K NPSR1_ENST00000381539.3_Missense_Mutation_p.E40K|NPSR1_ENST00000465305.1_Missense_Mutation_p.E40K|AC005493.1_ENST00000399077.1_Intron|NPSR1_ENST00000381553.3_Missense_Mutation_p.E40K|NPSR1_ENST00000359791.1_Missense_Mutation_p.E40K|NPSR1-AS1_ENST00000419766.1_RNA|NPSR1_ENST00000381542.1_Missense_Mutation_p.E40K|NPSR1_ENST00000531252.1_Missense_Mutation_p.E40K NM_207172.1 NP_997055.1 Q6W5P4 NPSR1_HUMAN neuropeptide S receptor 1 40 cytoplasm|integral to membrane|plasma membrane vasopressin receptor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(7) 31 Halothane(DB01159) GGAAGGAAAGGAATGGGGTTC 0.478000 28 70 0 0 1 0 0 LRRC37BP1 147172 broad.mit.edu 37 17 28964386 28964386 + RNA SNP T T A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:28964386T>A ENST00000417404.1 + 0 4644 SMURF2P1_ENST00000578265.1_RNA TAAATATTGGTTTTTTACTTA 0.279000 10 20 0 0 1 0 0 WBP11P1 441818 broad.mit.edu 37 18 30093451 30093451 + RNA SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr18:30093451C>T ENST00000567636.1 + 0 1826 NR_003558.1 CGGCTTGATTCAGCGATCCAA 0.542000 95 177 0 0 1 0 0 SEMA4C 54910 broad.mit.edu 37 2 97527356 97527356 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:97527356C>T ENST00000305476.5 - 14 1764 c.1632G>A c.(1630-1632)tcG>tcA p.S544S NM_017789.4 NP_060259.4 Q9C0C4 SEM4C_HUMAN sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4C 544 PSI. muscle cell differentiation|nervous system development|positive regulation of stress-activated MAPK cascade cell junction|integral to membrane|postsynaptic density|postsynaptic membrane|synaptic vesicle membrane receptor activity NS(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 17 CTGAAGTGTCCGAGGTCATCA 0.562000 87 148 0 0 1 0 0 MYO18B 84700 broad.mit.edu 37 22 26164456 26164456 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr22:26164456G>A ENST00000335473.7 + 4 823 c.573G>A c.(571-573)aaG>aaA p.K191K MYO18B_ENST00000536101.1_Silent_p.K191K|MYO18B_ENST00000407587.2_Silent_p.K191K NM_032608.5 NP_115997.5 Q8IUG5 MY18B_HUMAN myosin XVIIIB 191 nucleus|sarcomere|unconventional myosin complex actin binding|ATP binding|motor activity NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 146 GAAAGGAAAAGAAAGGGGAGA 0.617000 15 15 0 0 1 0 0 TAF7L 54457 broad.mit.edu 37 X 100532650 100532650 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chrX:100532650G>A ENST00000372907.3 - 9 904 c.893C>T c.(892-894)cCa>cTa p.P298L TAF7L_ENST00000372905.2_Missense_Mutation_p.P212L|TAF7L_ENST00000356784.1_Missense_Mutation_p.P212L|TAF7L_ENST00000324762.6_Missense_Mutation_p.P212L NM_024885.3 NP_079161.3 Q5H9L4 TAF7L_HUMAN TAF7-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 50kDa 298 cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription initiation from RNA polymerase II promoter cytoplasm|transcription factor TFIID complex binding NS(1)|breast(4)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 29 CAAAAATCCTGGGATGGAGCC 0.458000 102 55 0 0 1 0 0 CLTCL1 8218 broad.mit.edu 37 22 19188847 19188847 + Nonsense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr22:19188847C>T ENST00000263200.10 - 23 3830 c.3758G>A c.(3757-3759)tGg>tAg p.W1253* CLTCL1_ENST00000353891.5_Nonsense_Mutation_p.W1253*|CLTCL1_ENST00000442042.2_5'UTR|CLTCL1_ENST00000427926.1_Nonsense_Mutation_p.W1253* NM_007098.3 NP_009029.3 P53675 CLH2_HUMAN clathrin, heavy chain-like 1 1253 Heavy chain arm.|Involved in binding clathrin light chain (By similarity).|Proximal segment. anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network protein binding|signal transducer activity|structural molecule activity breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 49 Colorectal(54;0.0993) CACCTCCTTCCACGTCCGGGT 0.607000 T ? ALCL 11 15 0 0 1 0 0 EPB41L4B 54566 broad.mit.edu 37 9 111938843 111938843 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:111938843G>A ENST00000374566.3 - 25 3138 c.2621C>T c.(2620-2622)tCt>tTt p.S874F NM_019114.3 NP_061987.3 Q9H329 E41LB_HUMAN erythrocyte membrane protein band 4.1 like 4B 874 cytoplasm|cytoskeleton|extrinsic to membrane cytoskeletal protein binding|structural constituent of cytoskeleton NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 GGCTGCCAGAGAAACAGGTTT 0.562000 4 84 0 0 1 0 0 MYH7 4625 broad.mit.edu 37 14 23896073 23896073 + Splice_Site SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr14:23896073C>T ENST00000355349.3 - 18 2119 c.1956_splice c.e18-1 p.E653_splice NM_000257.2 NP_000248.2 P12883 MYH7_HUMAN myosin, heavy chain 7, cardiac muscle, beta 653 Myosin head-like. adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 137 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00725) TTCAGATTTTCCTGTGGCCAA 0.438000 16 30 0 0 1 0 0 CYP2B7P 1556 broad.mit.edu 37 19 41450615 41450615 + RNA SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:41450615G>A ENST00000599198.1 + 0 1206 NR_001278.1 NS(1)|endometrium(6)|kidney(1)|lung(2)|ovary(1)|skin(1) 12 TCCTTCCTCAGGACACGGAAG 0.453000 8 127 0 0 1 0 0 OR6S1 341799 broad.mit.edu 37 14 21109054 21109054 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr14:21109054G>A ENST00000320704.3 - 1 796 c.797C>T c.(796-798)tCg>tTg p.S266L NM_001001968.1 NP_001001968.1 Q8NH40 OR6S1_HUMAN olfactory receptor, family 6, subfamily S, member 1 266 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.S266L(1) kidney(1)|large_intestine(3)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 23 all_cancers(95;0.00304) Epithelial(56;1.23e-06)|all cancers(55;1.01e-05) GBM - Glioblastoma multiforme(265;0.0135) ACCACTCTGCGATGGCCGCAC 0.478000 47 93 0 0 1 0 0 FCRL5 83416 broad.mit.edu 37 1 157504680 157504680 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:157504680G>A ENST00000361835.3 - 8 1562 c.1405C>T c.(1405-1407)Cct>Tct p.P469S FCRL5_ENST00000368189.3_Missense_Mutation_p.P469S|FCRL5_ENST00000368190.3_Missense_Mutation_p.P469S|FCRL5_ENST00000356953.4_Missense_Mutation_p.P469S|FCRL5_ENST00000368191.3_Missense_Mutation_p.P384S NM_001195388.1|NM_031281.2 NP_001182317.1|NP_112571.2 Q96RD9 FCRL5_HUMAN Fc receptor-like 5 469 integral to membrane|plasma membrane receptor activity breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 85 all_hematologic(112;0.0378)|Hepatocellular(266;0.178) Prostate(1639;0.231) TGAGACACAGGGACTGAGGAA 0.502000 21 62 0 0 1 0 0 CYTIP 9595 broad.mit.edu 37 2 158272454 158272454 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:158272454C>T ENST00000264192.3 - 8 936 c.815G>A c.(814-816)gGt>gAt p.G272D CYTIP_ENST00000540637.1_Missense_Mutation_p.G166D NM_004288.4 NP_004279.3 O60759 CYTIP_HUMAN cytohesin 1 interacting protein 272 Ser-rich. regulation of cell adhesion cell cortex|early endosome protein binding breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2) 15 ACTGAAGGCACCCCTGCTGGA 0.537000 11 107 0 0 1 0 0 IQCA1 79781 broad.mit.edu 37 2 237349767 237349767 + Splice_Site SNP T T G TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:237349767T>G ENST00000409907.3 - 7 1201 c.926_splice c.e7-1 p.R309_splice IQCA1_ENST00000465621.1_5'UTR|IQCA1_ENST00000309507.5_Splice_Site_p.R305_splice|IQCA1_ENST00000431676.2_Splice_Site_p.R309_splice Q86XH1 IQCA1_HUMAN IQ motif containing with AAA domain 1 309 ATP binding cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(1) 26 CGGTTAAATTTCTGCAGGAAA 0.348000 3 6 0 0 1 0 0 GALNT13 114805 broad.mit.edu 37 2 155252561 155252561 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:155252561G>A ENST00000392825.3 + 10 1782 c.1215G>A c.(1213-1215)ctG>ctA p.L405L GALNT13_ENST00000487047.1_3'UTR|GALNT13_ENST00000409237.1_Silent_p.L405L NM_052917.2 NP_443149.2 Q8IUC8 GLT13_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13) 405 Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 65 GAGAAAATCTGAAGTGTAAGC 0.368000 21 46 0 0 1 0 0 TRBV24-1 28563 broad.mit.edu 37 7 142364609 142364609 + RNA SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:142364609G>A ENST00000390397.2 + 0 280 GATCTCTGATGGATACAGTGT 0.463000 23 74 0 0 1 0 0 GRXCR2 643226 broad.mit.edu 37 5 145252393 145252393 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:145252393C>T ENST00000377976.1 - 1 138 c.139G>A c.(139-141)Gag>Aag p.E47K NM_001080516.1 NP_001073985.1 A6NFK2 GRCR2_HUMAN glutaredoxin, cysteine rich 2 47 breast(1)|endometrium(1)|large_intestine(2)|lung(1)|urinary_tract(2) 7 GGGTATTCCTCCTTTGGTGAC 0.498000 52 146 0 0 1 0 0 CSMD1 64478 broad.mit.edu 37 8 2824228 2824228 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:2824228C>T ENST00000602557.1 - 59 9522 c.8967G>A c.(8965-8967)atG>atA p.M2989I CSMD1_ENST00000602723.1_Intron|CSMD1_ENST00000537824.1_Missense_Mutation_p.M2988I|CSMD1_ENST00000400186.3_Intron|CSMD1_ENST00000542608.1_Intron|CSMD1_ENST00000520002.1_Missense_Mutation_p.M2989I Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 2989 Sushi 23. integral to membrane p.M2988I(1)|p.M2717I(1) breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) TACTGACAATCATTCCGTTGG 0.532000 12 26 0 0 1 0 0 CNTNAP5 129684 broad.mit.edu 37 2 125521638 125521638 + Missense_Mutation SNP T T A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:125521638T>A ENST00000431078.1 + 16 2808 c.2444T>A c.(2443-2445)aTt>aAt p.I815N NM_130773.2 NP_570129.1 Q8WYK1 CNTP5_HUMAN contactin associated protein-like 5 815 Laminin G-like 3. cell adhesion|signal transduction integral to membrane receptor binding NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3) 176 BRCA - Breast invasive adenocarcinoma(221;0.248) AGTGCCGATATTTCCTTCTTT 0.413000 12 123 0 0 1 0 0 SPDYE3 441272 broad.mit.edu 37 7 99917207 99917207 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:99917207G>A ENST00000332397.6 + 9 1550 c.1366G>A c.(1366-1368)Gag>Aag p.E456K SPDYE3_ENST00000437326.2_Missense_Mutation_p.E79K NM_001004351.4 NP_001004351.3 A6NKU9 SPDE3_HUMAN speedy/RINGO cell cycle regulator family member E3 456 endometrium(10)|kidney(1)|lung(8)|urinary_tract(1) 20 CAATGACATGGAGGAGGACGA 0.552000 35 207 0 0 1 0 0 LIG3 3980 broad.mit.edu 37 17 33325292 33325292 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:33325292G>A ENST00000378526.4 + 13 2099 c.1966G>A c.(1966-1968)Ggg>Agg p.G656R LIG3_ENST00000262327.5_Missense_Mutation_p.G656R NM_013975.3 NP_039269.2 P49916 DNLI3_HUMAN ligase III, DNA, ATP-dependent 656 base-excision repair|cell division|DNA ligation involved in DNA repair|DNA replication|reciprocal meiotic recombination|spermatogenesis nucleoplasm ATP binding|DNA binding|DNA ligase (ATP) activity|protein binding|zinc ion binding endometrium(4)|large_intestine(8)|lung(9)|ovary(3)|pancreas(2)|prostate(1)|skin(3)|stomach(1) 31 Ovarian(249;0.17) Bleomycin(DB00290) GGGATTGGAGGGGCTGGTGCT 0.567000 Other BER factors OREG0024326 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 14 48 0 0 1 0 0 EEF1DP3 196549 broad.mit.edu 37 13 32526962 32526962 + RNA SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr13:32526962C>T ENST00000428783.1 + 0 662 TCGTCCGGATCGCCAGTCTGG 0.647000 10 14 0 0 1 0 0 VWF 7450 broad.mit.edu 37 12 6078534 6078534 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:6078534C>T ENST00000261405.5 - 45 7826 c.7572G>A c.(7570-7572)ccG>ccA p.P2524P NM_000552.3 NP_000543.2 P04275 VWF_HUMAN von Willebrand factor 2524 blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5) 129 Antihemophilic Factor(DB00025) AGGGGTTCTCCGGGGAGGCCC 0.607000 4 106 0 0 1 0 0 C1orf115 79762 broad.mit.edu 37 1 220870028 220870028 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:220870028C>T ENST00000294889.5 + 2 942 c.384C>T c.(382-384)tcC>tcT p.S128S NM_024709.4 NP_078985.3 Q9H7X2 CA115_HUMAN chromosome 1 open reading frame 115 128 integral to membrane large_intestine(1)|lung(1) 2 GBM - Glioblastoma multiforme(131;0.0273) CAGCCTACTCCGCCCCGTTTG 0.577000 92 113 0 0 1 0 0 OR1F2P 26184 broad.mit.edu 37 16 3266297 3266297 + RNA SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr16:3266297C>T ENST00000576468.1 + 0 418 GGGTCCCATCCACAAAGGGAA 0.507000 20 61 0 0 1 0 0 SVIL 6840 broad.mit.edu 37 10 29843806 29843806 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:29843806G>A ENST00000375398.2 - 7 515 c.66C>T c.(64-66)ctC>ctT p.L22L SVIL_ENST00000355867.4_Silent_p.L22L|SVIL_ENST00000375400.3_Silent_p.L22L O95425 SVIL_HUMAN supervillin 22 Interaction with MYLK (By similarity). cytoskeleton organization|skeletal muscle tissue development cell junction|costamere|invadopodium|nucleus|podosome actin filament binding breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2) 112 Breast(68;0.103) AGCTCTGCAAGAGGATGGGCT 0.557000 24 51 0 0 1 0 0 UHRF2 115426 broad.mit.edu 37 9 6475493 6475493 + Missense_Mutation SNP G G T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:6475493G>T ENST00000276893.5 + 5 1134 c.966G>T c.(964-966)aaG>aaT p.K322N NM_152896.2 NP_690856.1 Q96PU4 UHRF2_HUMAN ubiquitin-like with PHD and ring finger domains 2, E3 ubiquitin protein ligase 322 cell cycle|cell differentiation|cell proliferation|protein autoubiquitination|regulation of cell cycle|ubiquitin-dependent protein catabolic process nucleus DNA binding|histone binding|ubiquitin-protein ligase activity|zinc ion binding cervix(2)|endometrium(2)|kidney(3)|large_intestine(4)|lung(5)|ovary(1) 17 Acute lymphoblastic leukemia(23;0.158) GBM - Glioblastoma multiforme(50;0.0392)|Lung(218;0.129) CAGATGGAAAGTTTTTAAGTA 0.343000 9 105 0.000442599 0.000443843 1 1 0 ARHGAP31 57514 broad.mit.edu 37 3 119101170 119101170 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:119101170C>T ENST00000264245.4 + 5 995 c.463C>T c.(463-465)Cat>Tat p.H155Y NM_020754.2 NP_065805.2 Q2M1Z3 RHG31_HUMAN Rho GTPase activating protein 31 155 Rho-GAP. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|focal adhesion|lamellipodium GTPase activator activity breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 67 ACACCTGGCCCATATCGCCTC 0.522000 60 121 0 0 1 0 0 PNLIPRP2 5408 broad.mit.edu 37 10 118390796 118390796 + RNA SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:118390796G>A ENST00000537242.1 + 0 771 PNLIPRP2_ENST00000298771.7_RNA|PNLIPRP2_ENST00000433618.4_RNA NM_005396.4 NP_005387.2 P54317 LIPR2_HUMAN pancreatic lipase-related protein 2 galactolipid catabolic process|lipid digestion|phospholipid catabolic process|triglyceride metabolic process extracellular space acylglycerol lipase activity|calcium ion binding|galactolipase activity|phospholipase activity|triglyceride lipase activity endometrium(1)|large_intestine(1)|lung(11)|prostate(3) 16 all cancers(201;0.015) CTTTCCAAATGGAGGAAAGGA 0.413000 11 2 0 0 1 0 0 USH2A 7399 broad.mit.edu 37 1 215901598 215901598 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:215901598G>A ENST00000366943.2 - 61 12226 c.11840C>T c.(11839-11841)tCc>tTc p.S3947F USH2A_ENST00000307340.3_Missense_Mutation_p.S3947F O75445 USH2A_HUMAN Usher syndrome 2A (autosomal recessive, mild) 3947 Fibronectin type-III 24. maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3) 527 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) TGAACCCTTGGAGTTACAGGC 0.483000 HNSCC(13;0.011) 40 111 0 0 1 0 0 ZP3 7784 broad.mit.edu 37 7 76062827 76062827 + Silent SNP G G T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:76062827G>T ENST00000416245.1 + 3 1141 c.48G>T c.(46-48)ctG>ctT p.L16L ZP3_ENST00000394857.3_Silent_p.L192L|ZP3_ENST00000336517.4_Silent_p.L141L P21754 ZP3_HUMAN zona pellucida glycoprotein 3 (sperm receptor) 192 binding of sperm to zona pellucida|blastocyst formation|egg coat formation|humoral immune response mediated by circulating immunoglobulin|intracellular protein transport|negative regulation of binding of sperm to zona pellucida|negative regulation of transcription, DNA-dependent|oocyte development|phosphatidylinositol-mediated signaling|positive regulation of acrosomal vesicle exocytosis|positive regulation of acrosome reaction|positive regulation of antral ovarian follicle growth|positive regulation of calcium ion import|positive regulation of calcium ion transport via store-operated calcium channel activity|positive regulation of humoral immune response|positive regulation of interferon-gamma production|positive regulation of interleukin-4 production|positive regulation of leukocyte migration|positive regulation of ovarian follicle development|positive regulation of phosphatidylinositol biosynthetic process|positive regulation of protein kinase activity|positive regulation of protein kinase B signaling cascade|positive regulation of T cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of type IV hypersensitivity|protein kinase C signaling cascade endoplasmic reticulum|extracellular space|Golgi apparatus|integral to membrane|multivesicular body|outer acrosomal membrane|perinuclear region of cytoplasm|plasma membrane|proteinaceous extracellular matrix acrosin binding|manganese ion transmembrane transporter activity|receptor activity|sugar binding endometrium(1)|large_intestine(3)|lung(2)|skin(1) 7 CCTTCCACCTGGGAGATGCAG 0.597000 26 272 1.2476e-16 1.25882e-16 1 1 0 FLT3 2322 broad.mit.edu 37 13 28636143 28636143 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr13:28636143C>T ENST00000380982.4 - 3 310 c.229G>A c.(229-231)Gaa>Aaa p.E77K FLT3_ENST00000241453.7_Missense_Mutation_p.E77K|FLT3_ENST00000537084.1_Missense_Mutation_p.E77K P36888 FLT3_HUMAN fms-related tyrosine kinase 3 77 positive regulation of cell proliferation integral to plasma membrane ATP binding|vascular endothelial growth factor receptor activity NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 12390 Acute lymphoblastic leukemia(6;0.04) Lung SC(185;0.0156)|Ovarian(182;0.0392) Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105) OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212) Sorafenib(DB00398)|Sunitinib(DB01268) GCGGCAGCTTCGTACACTGTC 0.522000 """Mis, O""" """AML, ALL""" 36 84 0 0 1 0 0 SLC22A8 9376 broad.mit.edu 37 11 62766492 62766492 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:62766492C>T ENST00000336232.2 - 5 797 c.662G>A c.(661-663)gGc>gAc p.G221D SLC22A8_ENST00000545207.1_Missense_Mutation_p.G130D|SLC22A8_ENST00000430500.2_Missense_Mutation_p.G221D|SLC22A8_ENST00000535878.1_Missense_Mutation_p.G98D|SLC22A8_ENST00000542795.1_5'UTR|SLC22A8_ENST00000311438.8_Missense_Mutation_p.G221D NM_001184732.1|NM_001184736.1|NM_004254.3 NP_001171661.1|NP_001171665.1|NP_004245.2 Q8TCC7 S22A8_HUMAN solute carrier family 22 (organic anion transporter), member 8 221 response to toxin basolateral plasma membrane|integral to plasma membrane|membrane fraction inorganic anion exchanger activity|organic anion transmembrane transporter activity endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 28 AATGAACTGGCCAAAGGTGTA 0.572000 31 99 0 0 1 0 0 LRRC55 219527 broad.mit.edu 37 11 56954858 56954858 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:56954858G>A ENST00000497933.1 + 2 1077 c.930G>A c.(928-930)gtG>gtA p.V310V NM_001005210.2 NP_001005210.1 Q6ZSA7 LRC55_HUMAN leucine rich repeat containing 55 280 Poly-Glu. integral to membrane endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|skin(2) 25 TGGGCTTCGTGGTCTCCATTG 0.577000 6 119 0 0 1 0 0 BBX 56987 broad.mit.edu 37 3 107520032 107520032 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:107520032G>A ENST00000415149.2 + 16 2879 c.2552G>A c.(2551-2553)gGg>gAg p.G851E BBX_ENST00000402543.1_Missense_Mutation_p.G831E|BBX_ENST00000325805.8_Missense_Mutation_p.G881E|BBX_ENST00000416476.2_Missense_Mutation_p.G545R|BBX_ENST00000406780.1_Missense_Mutation_p.G851E NM_001142568.1|NM_020235.5 NP_001136040.1|NP_064620.2 Q8WY36 BBX_HUMAN bobby sox homolog (Drosophila) 881 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding breast(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(18)|ovary(4)|pancreas(1)|skin(2) 49 OV - Ovarian serous cystadenocarcinoma(3;0.112) ACCGAGGTCGGGGAGACGCGG 0.517000 30 55 0 0 1 0 0 OR1L8 138881 broad.mit.edu 37 9 125329830 125329830 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:125329830G>A ENST00000304865.2 - 1 1008 c.927C>T c.(925-927)tcC>tcT p.S309S NM_001004454.1 NP_001004454.1 Q8NGR8 OR1L8_HUMAN olfactory receptor, family 1, subfamily L, member 8 309 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 20 GTGCTTCCTAGGATCTCTTGC 0.438000 43 104 0 0 1 0 0 OR6W1P 89883 broad.mit.edu 37 7 142759843 142759843 + RNA SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:142759843G>A ENST00000496192.1 - 0 683 NR_002140.1 central_nervous_system(1)|endometrium(2)|lung(1)|skin(1) 5 GCATCCAGAGGAGGAAGGGAT 0.557000 4 25 0 0 1 0 0 TTC29 83894 broad.mit.edu 37 4 147830250 147830250 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:147830250G>A ENST00000513335.1 - 6 605 c.406C>T c.(406-408)Ctg>Ttg p.L136L TTC29_ENST00000398886.4_Silent_p.L136L|TTC29_ENST00000325106.4_Silent_p.L110L Q8NA56 TTC29_HUMAN tetratricopeptide repeat domain 29 110 binding breast(2)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 26 all_hematologic(180;0.151) TGCTCCTCCAGGGGCTTCTGC 0.572000 42 79 0 0 1 0 0 WNT3 7473 broad.mit.edu 37 17 44845914 44845914 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:44845914G>A ENST00000225512.5 - 4 1002 c.840C>T c.(838-840)tcC>tcT p.S280S NM_030753.4 NP_110380.1 P56703 WNT3_HUMAN wingless-type MMTV integration site family, member 3 280 canonical Wnt receptor signaling pathway involved in mesenchymal stem cell differentiation|canonical Wnt receptor signaling pathway involved in osteoblast differentiation|cellular response to retinoic acid|dorsal/ventral axis specification|embryonic forelimb morphogenesis|embryonic hindlimb morphogenesis|embryonic pattern specification|head morphogenesis|hemopoietic stem cell proliferation|inner ear morphogenesis|limb bud formation|mammary gland epithelium development|mesoderm formation|midbrain-hindbrain boundary development|negative regulation of fat cell differentiation|positive regulation of cell proliferation|Spemann organizer formation at the anterior end of the primitive streak|Wnt receptor signaling pathway, calcium modulating pathway early endosome|extracellular space|late endosome|membrane fraction|membrane raft|plasma membrane|proteinaceous extracellular matrix frizzled binding|frizzled-2 binding|signal transducer activity endometrium(2)|large_intestine(6)|lung(4)|prostate(1) 13 BRCA - Breast invasive adenocarcinoma(9;0.0257) AAAAGTTGGGGGAGTTCTCGT 0.602000 51 118 0 0 1 0 0 LTBP3 4054 broad.mit.edu 37 11 65315410 65315410 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:65315410G>A ENST00000301873.5 - 12 2095 c.1827C>T c.(1825-1827)ccC>ccT p.P609P LTBP3_ENST00000536982.1_Silent_p.P235P|LTBP3_ENST00000322147.4_Silent_p.P609P|LTBP3_ENST00000532932.1_Silent_p.P39P NM_001130144.2 NP_001123616.1 Q9NS15 LTBP3_HUMAN latent transforming growth factor beta binding protein 3 609 Cys-rich.|EGF-like 3. extracellular region calcium ion binding|growth factor binding breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(3) 23 AGCGGTGCTGGGGATGTGACC 0.652000 32 87 0 0 1 0 0 LAMA3 3909 broad.mit.edu 37 18 21478966 21478966 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr18:21478966C>T ENST00000313654.9 + 46 6014 c.5773C>T c.(5773-5775)Cgg>Tgg p.R1925W LAMA3_ENST00000269217.6_Missense_Mutation_p.R316W|LAMA3_ENST00000588770.1_3'UTR|LAMA3_ENST00000399516.3_Missense_Mutation_p.R1925W|LAMA3_ENST00000587184.1_Missense_Mutation_p.R316W NM_198129.1 NP_937762.1 Q16787 LAMA3_HUMAN laminin, alpha 3 1925 Domain II and I. cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4) 128 all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) CAATGTTAATCGGGCAACACA 0.313000 29 45 0 0 1 0 0 WNT7A 7476 broad.mit.edu 37 3 13860911 13860911 + Missense_Mutation SNP C C G TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:13860911C>G ENST00000285018.4 - 4 884 c.580G>C c.(580-582)Gag>Cag p.E194Q NM_004625.3 NP_004616.2 O00755 WNT7A_HUMAN wingless-type MMTV integration site family, member 7A 194 activation of JUN kinase activity|anterior/posterior pattern formation|canonical Wnt receptor signaling pathway|cell proliferation in forebrain|cellular response to transforming growth factor beta stimulus|central nervous system vasculogenesis|cerebellar granule cell differentiation|dorsal/ventral pattern formation|embryonic axis specification|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic leg morphogenesis|lens fiber cell development|negative regulation of neurogenesis|palate development|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of JNK cascade|positive regulation of synaptogenesis|positive regulation of transcription from RNA polymerase II promoter|regulation of axon diameter|satellite cell activation|satellite cell maintenance involved in skeletal muscle regeneration|sex differentiation|uterus development|Wnt receptor signaling pathway involved in wound healing, spreading of epidermal cells|Wnt receptor signaling pathway, calcium modulating pathway extracellular space|plasma membrane|proteinaceous extracellular matrix cytokine activity|frizzled binding|receptor agonist activity|signal transducer activity NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1) 24 TTCATGTTCTCCTCCAGGATC 0.652000 36 113 0 0 1 0 0 IGF2BP2-AS1 646600 broad.mit.edu 37 3 185434463 185434463 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:185434463G>A ENST00000296270.1 + 2 432 c.296G>A c.(295-297)aGg>aAg p.R99K IGF2BP2_ENST00000457616.2_Intron|IGF2BP2_ENST00000421047.2_Intron|IGF2BP2_ENST00000382199.2_Intron|IGF2BP2_ENST00000346192.3_Intron all_cancers(143;1.5e-10)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(80;7.41e-21) ATCTGGTTAAGGAGAGTGTAT 0.537000 20 47 0 0 1 0 0 TACC2 10579 broad.mit.edu 37 10 123971079 123971079 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:123971079C>T ENST00000369005.1 + 9 7479 c.7139C>T c.(7138-7140)cCc>cTc p.P2380L TACC2_ENST00000369004.3_Missense_Mutation_p.P458L|TACC2_ENST00000368999.1_Missense_Mutation_p.P458L|TACC2_ENST00000358010.1_Missense_Mutation_p.P526L|TACC2_ENST00000515603.1_Missense_Mutation_p.P2335L|TACC2_ENST00000369001.1_Missense_Mutation_p.P84L|TACC2_ENST00000260733.3_Missense_Mutation_p.P458L|TACC2_ENST00000334433.3_Missense_Mutation_p.P2380L|TACC2_ENST00000515273.1_Missense_Mutation_p.P2384L|TACC2_ENST00000513429.1_Missense_Mutation_p.P526L|TACC2_ENST00000360561.3_Missense_Mutation_p.P458L|TACC2_ENST00000369000.1_Missense_Mutation_p.P84L|TACC2_ENST00000453444.2_Missense_Mutation_p.P2384L NM_206862.2 NP_996744.2 O95359 TACC2_HUMAN transforming, acidic coiled-coil containing protein 2 2380 SPAZ. microtubule organizing center|nucleus nuclear hormone receptor binding NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 83 all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197) TCCGTTGACCCCTTTAAGACA 0.498000 5 247 0 0 1 0 0 CYP1A1 1543 broad.mit.edu 37 15 75014802 75014802 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr15:75014802C>T ENST00000379727.3 - 2 835 c.637G>A c.(637-639)Gaa>Aaa p.E213K CYP1A1_ENST00000567032.1_Missense_Mutation_p.E213K|CYP1A1_ENST00000395048.2_Missense_Mutation_p.E213K|CYP1A1_ENST00000395049.4_Missense_Mutation_p.E213K|CYP1A1_ENST00000564596.1_5'UTR P04798 CP1A1_HUMAN cytochrome P450, family 1, subfamily A, polypeptide 1 213 cellular lipid metabolic process|drug metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding|vitamin D 24-hydroxylase activity autonomic_ganglia(1)|breast(2)|endometrium(1)|large_intestine(7)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 Arsenic trioxide(DB01169)|Benzphetamine(DB00865)|Bleomycin(DB00290)|Chlorzoxazone(DB00356)|Dacarbazine(DB00851)|Dactinomycin(DB00970)|Esomeprazole(DB00736)|Estrone(DB00655)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Ginseng(DB01404)|Granisetron(DB00889)|Ketoconazole(DB01026)|Menadione(DB00170)|Picrotoxin(DB00466)|Primaquine(DB01087)|Quinidine(DB00908)|Quinine(DB00468)|Thiabendazole(DB00730) CTAAGCAGTTCTTGGTGGTTG 0.512000 Endometrial Cancer, Familial Clustering of;ACTH-independent macronodular adrenal hyperplasia 36 67 0 0 1 0 0 POTEE 445582 broad.mit.edu 37 2 132021474 132021474 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:132021474C>T ENST00000356920.5 + 15 2540 c.2446C>T c.(2446-2448)Cgc>Tgc p.R816C PLEKHB2_ENST00000303908.3_Intron|POTEE_ENST00000358087.5_3'UTR|PLEKHB2_ENST00000404460.1_Intron NM_001083538.1 NP_001077007.1 Q6S8J3 POTEE_HUMAN POTE ankyrin domain family, member E 816 Actin-like. ATP binding p.R816C(1) CAAGGCCAACCGCGAGAAGAT 0.612000 13 321 0 0 1 0 0 SMARCA4 6597 broad.mit.edu 37 19 11135035 11135035 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:11135035C>T ENST00000358026.2 + 21 3286 c.3002C>T c.(3001-3003)tCt>tTt p.S1001F SMARCA4_ENST00000444061.3_Missense_Mutation_p.S1001F|SMARCA4_ENST00000589677.1_Missense_Mutation_p.S1001F|SMARCA4_ENST00000344626.4_Missense_Mutation_p.S1001F|SMARCA4_ENST00000590574.1_Missense_Mutation_p.S1001F|SMARCA4_ENST00000429416.3_Missense_Mutation_p.S1001F|SMARCA4_ENST00000413806.3_Missense_Mutation_p.S1001F|SMARCA4_ENST00000541122.2_Missense_Mutation_p.S1001F|SMARCA4_ENST00000450717.3_Missense_Mutation_p.S1001F NM_001128849.1 NP_001122321.1 P51532 SMCA4_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 1001 chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity p.?(1) adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 163 all_lung(6;0.0512)|Lung NSC(9;0.0568) TGCGACATGTCTGCGCTGCAG 0.622000 """F, N, Mis""" NSCLC 30 61 0 0 1 0 0 STEAP2 261729 broad.mit.edu 37 7 89856544 89856544 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:89856544C>T ENST00000287908.3 + 3 1145 c.752C>T c.(751-753)cCt>cTt p.P251L STEAP2_ENST00000394622.2_Missense_Mutation_p.P251L|STEAP2_ENST00000394621.2_Missense_Mutation_p.P251L|STEAP2_ENST00000394632.1_Missense_Mutation_p.P251L|STEAP2_ENST00000402625.2_Missense_Mutation_p.P251L|STEAP2_ENST00000394629.2_Missense_Mutation_p.P251L|STEAP2_ENST00000394626.1_Missense_Mutation_p.P251L NM_001244944.1|NM_152999.3 NP_001231873.1|NP_694544.2 Q8NFT2 STEA2_HUMAN STEAP family member 2, metalloreductase 251 electron transport chain|endocytosis|Golgi to plasma membrane transport|ion transport|iron ion homeostasis|regulated secretory pathway|response to hormone stimulus cytosol|early endosome|endosome membrane|integral to Golgi membrane|plasma membrane|trans-Golgi network transport vesicle|vesicular fraction electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity|transporter activity endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1) 15 all_hematologic(106;0.112) TACAAAATTCCTATAGAGATT 0.373000 70 115 0 0 1 0 0 ZNF222 7673 broad.mit.edu 37 19 44536578 44536578 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:44536578C>T ENST00000187879.8 + 4 913 c.751C>T c.(751-753)Cat>Tat p.H251Y ZNF222_ENST00000391960.3_Missense_Mutation_p.H291Y|ZNF223_ENST00000591793.1_Intron NM_013360.2 NP_037492.2 Q9UK12 ZN222_HUMAN zinc finger protein 222 251 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|large_intestine(7)|lung(6)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1) 20 Prostate(69;0.0435) TCACAGAATTCATACTGGGGA 0.393000 64 129 0 0 1 0 0 PWP2 5822 broad.mit.edu 37 21 45535626 45535626 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr21:45535626C>T ENST00000291576.7 + 7 788 c.661C>T c.(661-663)Ccc>Tcc p.P221S NM_005049.2 NP_005040.2 Q15269 PWP2_HUMAN PWP2 periodic tryptophan protein homolog (yeast) 221 cytoplasm|nucleolus signal transducer activity cervix(1)|endometrium(6)|large_intestine(6)|lung(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1) 21 STAD - Stomach adenocarcinoma(101;0.172)|Colorectal(79;0.2) TGACACGCCCCCCGAGGGCTT 0.662000 5 135 0 0 1 0 0 DHCR7 1717 broad.mit.edu 37 11 71150069 71150069 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:71150069G>A ENST00000355527.3 - 7 963 c.687C>T c.(685-687)atC>atT p.I229I DHCR7_ENST00000407721.2_Silent_p.I229I NM_001163817.1|NM_001360.2 NP_001157289.1|NP_001351.2 Q9UBM7 DHCR7_HUMAN 7-dehydrocholesterol reductase 229 cholesterol biosynthetic process endoplasmic reticulum membrane|integral to membrane|nuclear outer membrane 7-dehydrocholesterol reductase activity|protein binding endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(1)|skin(1) 19 NADH(DB00157) ACCACTTCCCGATCCGAGGGT 0.473000 Smith-Lemli-Opitz syndrome 29 64 0 0 1 0 0 AKAP9 10142 broad.mit.edu 37 7 91699403 91699403 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:91699403C>T ENST00000359028.2 + 28 6651 c.6426C>T c.(6424-6426)ctC>ctT p.L2142L AKAP9_ENST00000358100.2_Silent_p.L2142L|AKAP9_ENST00000356239.3_Silent_p.L2130L Q99996 AKAP9_HUMAN A kinase (PRKA) anchor protein 9 2142 Glu-rich. G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport centrosome|cytosol|Golgi apparatus receptor binding NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2) 155 all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249) STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225) AGCTTTTGCTCTCTAAAGAGC 0.348000 T BRAF papillary thyroid 69 187 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179642700 179642700 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:179642700G>A ENST00000589042.1 - 25 4435 c.4211C>T c.(4210-4212)tCt>tTt p.S1404F TTN_ENST00000359218.5_Missense_Mutation_p.S1358F|TTN_ENST00000591111.1_Missense_Mutation_p.S1404F|RP11-88L24.4_ENST00000582038.2_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.S1404F|TTN_ENST00000460472.2_Missense_Mutation_p.S1358F|TTN_ENST00000342175.6_Missense_Mutation_p.S1358F|TTN_ENST00000360870.5_Missense_Mutation_p.S1404F NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 1404 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TGGAGAGAGAGATCTGCAAAA 0.423000 11 24 0 0 1 0 0 TFAP2C 7022 broad.mit.edu 37 20 55206393 55206393 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr20:55206393C>T ENST00000201031.2 + 2 424 c.181C>T c.(181-183)Ccc>Tcc p.P61S TFAP2C_ENST00000544508.1_5'UTR NM_003222.3 NP_003213.1 Q92754 AP2C_HUMAN transcription factor AP-2 gamma (activating enhancer binding protein 2 gamma) 61 Gln/Pro-rich (transactivation domain). cell-cell signaling|male gonad development|regulation of transcription from RNA polymerase II promoter nucleus DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 13 Colorectal(105;0.229) ACCCTACTTTCCCCCTCCCTA 0.701000 9 76 0 0 1 0 0 MTUS2 23281 broad.mit.edu 37 13 29599163 29599163 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr13:29599163G>A ENST00000431530.3 + 1 416 c.358G>A c.(358-360)Gaa>Aaa p.E120K NM_001033602.2 NP_001028774.2 Q5JR59 MTUS2_HUMAN microtubule associated tumor suppressor candidate 2 110 cytoplasm|microtubule microtubule binding|protein homodimerization activity NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1) 20 GGAACTCAATGAAGAGCACAC 0.512000 29 47 0 0 1 0 0 CFH 3075 broad.mit.edu 37 1 196648759 196648759 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:196648759C>T ENST00000367429.4 + 6 866 c.626C>T c.(625-627)tCa>tTa p.S209L CFH_ENST00000439155.2_Missense_Mutation_p.S209L|CFH_ENST00000359637.2_Missense_Mutation_p.S145L NM_000186.3 NP_000177.2 P08603 CFAH_HUMAN complement factor H 209 Sushi 4. complement activation, alternative pathway extracellular space NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 101 TTAGAAATTTCATGCAAATCC 0.284000 23 38 0 0 1 0 0 VNN3 55350 broad.mit.edu 37 6 133052636 133052636 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:133052636G>A ENST00000392393.3 - 3 447 c.375C>T c.(373-375)tcC>tcT p.S125S VNN3_ENST00000414302.2_Intron|VNN3_ENST00000427187.2_Intron|VNN3_ENST00000425515.2_Intron|VNN3_ENST00000450865.2_Intron|VNN3_ENST00000207771.3_Intron|VNN3_ENST00000519686.2_Intron|VNN3_ENST00000392394.2_Silent_p.S125S|VNN3_ENST00000367927.5_Intron|VNN3_ENST00000423615.2_Intron|VNN3_ENST00000509351.1_Intron|VNN3_ENST00000275223.3_Intron|VNN3_ENST00000417437.2_Intron vanin 3 cervix(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)|stomach(1) 8 Breast(56;0.135) OV - Ovarian serous cystadenocarcinoma(155;0.00242)|GBM - Glioblastoma multiforme(226;0.0168) AAAGCTCTTTGGAAACAGGCT 0.413000 4 115 0 0 1 0 0 DMBT1 1755 broad.mit.edu 37 10 124399589 124399589 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:124399589C>T ENST00000338354.3 + 52 6695 c.6589C>T c.(6589-6591)Ctc>Ttc p.L2197F DMBT1_ENST00000368955.3_Missense_Mutation_p.L2187F|DMBT1_ENST00000344338.3_Missense_Mutation_p.L2187F|DMBT1_ENST00000359586.6_Missense_Mutation_p.L917F|DMBT1_ENST00000368909.3_Missense_Mutation_p.L2197F|DMBT1_ENST00000330163.4_Missense_Mutation_p.L1569F|DMBT1_ENST00000368956.2_Missense_Mutation_p.L1569F Q9UGM3 DMBT1_HUMAN deleted in malignant brain tumors 1 2197 ZP. epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3) 72 all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238) TTCCAACTTCCTCACAGCAGC 0.522000 27 65 0 0 1 0 0 RSPO4 343637 broad.mit.edu 37 20 948718 948718 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr20:948718G>A ENST00000217260.4 - 2 239 c.143C>T c.(142-144)tCc>tTc p.S48F RSPO4_ENST00000400634.2_Missense_Mutation_p.S48F NM_001029871.3 NP_001025042.2 Q2I0M5 RSPO4_HUMAN R-spondin 4 48 Wnt receptor signaling pathway extracellular region heparin binding endometrium(1)|kidney(1)|large_intestine(2)|lung(3) 7 CTGGCAGGTGGAACAGCCGTT 0.637000 54 79 0 0 1 0 0 ZAN 7455 broad.mit.edu 37 7 100370990 100370990 + RNA SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:100370990G>A ENST00000542585.1 + 0 5656 ZAN_ENST00000538115.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000546292.1_RNA NM_003386.1 NP_003377.1 Q9Y493 ZAN_HUMAN zonadhesin (gene/pseudogene) binding of sperm to zona pellucida|cell-cell adhesion integral to membrane|plasma membrane NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3) 139 Lung NSC(181;0.041)|all_lung(186;0.0581) STAD - Stomach adenocarcinoma(171;0.19) ACAACCCGAGGGACTGCCCCA 0.587000 7 159 0 0 1 0 0 GHR 2690 broad.mit.edu 37 5 42700003 42700003 + Missense_Mutation SNP G G C rs45477803 byFrequency TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:42700003G>C ENST00000230882.4 + 6 707 c.517G>C c.(517-519)Gtg>Ctg p.V173L GHR_ENST00000357703.3_Missense_Mutation_p.V151L|GHR_ENST00000537449.1_5'UTR NM_000163.4|NM_001242399.2|NM_001242400.2|NM_001242401.3|NM_001242402.2|NM_001242403.2|NM_001242404.2|NM_001242405.2|NM_001242406.2 NP_000154.1|NP_001229328.1|NP_001229329.1|NP_001229330.1|NP_001229331.1|NP_001229332.1|NP_001229333.1|NP_001229334.1|NP_001229335.1 P10912 GHR_HUMAN growth hormone receptor 173 Fibronectin type-III. V -> G (in LARS; almost completely abolishes GH-binding at cell surface: 26% binding to membrane fractions). 2-oxoglutarate metabolic process|activation of JAK2 kinase activity|activation of MAPK activity|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|endocytosis|fatty acid metabolic process|growth hormone receptor signaling pathway|insulin-like growth factor receptor signaling pathway|isoleucine metabolic process|JAK-STAT cascade|multicellular organismal metabolic process|oxaloacetate metabolic process|positive regulation of multicellular organism growth|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|receptor internalization|response to cycloheximide|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process cell surface|extracellular space|growth hormone receptor complex|integral to plasma membrane growth factor binding|peptide hormone binding|proline-rich region binding|protein homodimerization activity|protein kinase binding NS(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 39 Myeloproliferative disorder(839;0.00878) Pegvisomant(DB00082)|Somatropin recombinant(DB00052) AGATATCCAAGTGAGATGGGA 0.408000 22 120 0 0 1 0 0 STT3B 201595 broad.mit.edu 37 3 31661270 31661270 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:31661270C>T ENST00000295770.2 + 9 1484 c.1275C>T c.(1273-1275)ttC>ttT p.F425F STT3B_ENST00000453168.1_Intron NM_178862.1 NP_849193.1 Q8TCJ2 STT3B_HUMAN STT3B, subunit of the oligosaccharyltransferase complex (catalytic) 425 protein N-linked glycosylation via asparagine integral to membrane|oligosaccharyltransferase complex dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding autonomic_ganglia(1)|biliary_tract(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(3)|prostate(1)|upper_aerodigestive_tract(1) 19 TATGTACCTTCCCAGCAGGCC 0.348000 23 50 0 0 1 0 0 FAM120C 54954 broad.mit.edu 37 X 54185980 54185980 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chrX:54185980G>A ENST00000375180.2 - 2 825 c.769C>T c.(769-771)Ctt>Ttt p.L257F FAM120C_ENST00000328235.4_Missense_Mutation_p.L257F NM_017848.4 NP_060318.3 Q9NX05 F120C_HUMAN family with sequence similarity 120C 257 breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 28 TGGGCAAGAAGGCCATGGAAG 0.478000 33 21 0 0 1 0 0 ASTN1 460 broad.mit.edu 37 1 176913084 176913084 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:176913084C>T ENST00000367654.2 - 14 2357 c.2344G>A c.(2344-2346)Gag>Aag p.E782K ASTN1_ENST00000367657.3_Missense_Mutation_p.E774K|ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000361833.2_Missense_Mutation_p.E774K|ASTN1_ENST00000424564.2_Missense_Mutation_p.E774K O14525 ASTN1_HUMAN astrotactin 1 782 cell migration|neuron cell-cell adhesion integral to membrane NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3) 153 CATTGATTCTCCAGGGGCACA 0.522000 5 82 0 0 1 0 0 TBC1D17 79735 broad.mit.edu 37 19 50386140 50386140 + Silent SNP C C T rs146598967 byFrequency TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:50386140C>T ENST00000221543.5 + 8 1217 c.918C>T c.(916-918)atC>atT p.I306I TBC1D17_ENST00000535102.2_Silent_p.I273I NM_024682.2 NP_078958.2 Q9HA65 TBC17_HUMAN TBC1 domain family, member 17 306 intracellular Rab GTPase activator activity NS(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 15 all_lung(116;0.000338)|Lung NSC(112;0.000446)|all_neural(266;0.107)|Ovarian(192;0.231) GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.017) AGAACCGGATCTTCTCGGGGG 0.667000 30 66 0 0 1 0 0 KRTAP10-12 386685 broad.mit.edu 37 21 46117325 46117325 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr21:46117325G>A ENST00000400365.3 + 1 239 c.209G>A c.(208-210)aGc>aAc p.S70N TSPEAR_ENST00000323084.4_Intron NM_198699.1 NP_941972.1 P60413 KR10C_HUMAN keratin associated protein 10-12 70 19 X 5 AA repeats of C-C-X(3). keratin filament large_intestine(1)|lung(8) 9 TGTGAGCCCAGCCCCTGCCAA 0.706000 13 290 0 0 1 0 0 OR5A2 219981 broad.mit.edu 37 11 59190326 59190326 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:59190326C>T ENST00000302040.4 - 1 123 c.101G>A c.(100-102)gGg>gAg p.G34E NM_001001954.1 NP_001001954.1 Q8NGI9 OR5A2_HUMAN olfactory receptor, family 5, subfamily A, member 2 34 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(3)|liver(1)|lung(15)|skin(1)|upper_aerodigestive_tract(1) 21 GAGGTAGAGCCCCAGAAATAA 0.448000 23 89 0 0 1 0 0 OR2M7 391196 broad.mit.edu 37 1 248487244 248487244 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:248487244G>A ENST00000317965.2 - 1 655 c.627C>T c.(625-627)ttC>ttT p.F209F NM_001004691.1 NP_001004691.1 Q8NG81 OR2M7_HUMAN olfactory receptor, family 2, subfamily M, member 7 209 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(6)|large_intestine(3)|lung(29)|skin(3) 42 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) TTGCAACAGGGAAAACAAGCA 0.418000 7 476 0 0 1 0 0 SIRPD 128646 broad.mit.edu 37 20 1532496 1532496 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr20:1532496C>T ENST00000381623.3 - 2 1451 c.262G>A c.(262-264)Gag>Aag p.E88K SIRPD_ENST00000381621.1_Missense_Mutation_p.E88K Q9H106 SIRPD_HUMAN signal-regulatory protein delta 88 Ig-like V-type. extracellular region breast(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1) 15 TCTCCAATCTCTTTTACTCTG 0.453000 42 72 0 0 1 0 0 BAD 572 broad.mit.edu 37 11 64037604 64037604 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:64037604G>A ENST00000544785.1 - 2 393 c.393C>T c.(391-393)ttC>ttT p.F131F BAD_ENST00000309032.3_3'UTR|BAD_ENST00000394532.3_3'UTR Q92934 BAD_HUMAN BCL2-associated agonist of cell death 0 activation of pro-apoptotic gene products|ADP metabolic process|ATP metabolic process|cellular response to hypoxia|cellular response to mechanical stimulus|cellular response to nicotine|glucose homeostasis|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|pore complex assembly|positive regulation of epithelial cell proliferation|positive regulation of glucokinase activity|positive regulation of insulin secretion|positive regulation of mitochondrial membrane potential|positive regulation of type B pancreatic cell development|regulation of mitochondrial membrane permeability|type B pancreatic cell proliferation cytosol|mitochondrial outer membrane caspase activator activity|phospholipid binding|protein kinase binding central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(1) 4 AGGCCTGAGGGAAGTACTTCC 0.602000 12 19 0 0 1 0 0 TDRD6 221400 broad.mit.edu 37 6 46656826 46656826 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:46656826G>A ENST00000544460.1 + 1 1215 c.961G>A c.(961-963)Ggc>Agc p.G321S TDRD6_ENST00000316081.6_Missense_Mutation_p.G321S NM_001168359.1 NP_001161831.1 O60522 TDRD6_HUMAN tudor domain containing 6 321 Tudor 2. cell differentiation|multicellular organismal development|spermatogenesis chromatoid body nucleic acid binding NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 80 Lung(136;0.192) TGCATCCTGTGGCCTGGATGG 0.592000 27 85 0 0 1 0 0 BAIAP3 8938 broad.mit.edu 37 16 1398383 1398383 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr16:1398383G>A ENST00000324385.5 + 34 3622 c.3464G>A c.(3463-3465)aGa>aAa p.R1155K BAIAP3_ENST00000568887.1_Missense_Mutation_p.R1092K|BAIAP3_ENST00000562208.1_Missense_Mutation_p.R1097K|BAIAP3_ENST00000397488.2_Missense_Mutation_p.R1137K|BAIAP3_ENST00000421665.2_Missense_Mutation_p.R1084K|BAIAP3_ENST00000426824.3_Missense_Mutation_p.R1120K|BAIAP3_ENST00000397489.1_Missense_Mutation_p.R1137K NM_003933.4 NP_003924.2 O94812 BAIP3_HUMAN BAI1-associated protein 3 1155 G-protein coupled receptor protein signaling pathway|neurotransmitter secretion protein C-terminus binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(25)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 42 Hepatocellular(780;0.0893) CTTGCAGTGAGATCTGCGCTG 0.672000 9 26 0 0 1 0 0 HIST1H3C 8352 broad.mit.edu 37 6 26045809 26045809 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:26045809G>A ENST00000540144.1 + 1 171 c.171G>A c.(169-171)aaG>aaA p.K57K NM_003531.2 NP_003522.1 P68431 H31_HUMAN histone cluster 1, H3c 57 blood coagulation|nucleosome assembly|regulation of gene silencing|S phase nucleoplasm|nucleosome DNA binding|protein binding NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(1)|skin(1) 8 GCTACCAGAAGTCCACCGAGC 0.632000 5 187 0 0 1 0 0 DMBT1 1755 broad.mit.edu 37 10 124377733 124377733 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:124377733G>A ENST00000338354.3 + 38 4811 c.4705G>A c.(4705-4707)Gga>Aga p.G1569R DMBT1_ENST00000368955.3_Missense_Mutation_p.G1559R|DMBT1_ENST00000344338.3_Missense_Mutation_p.G1559R|DMBT1_ENST00000359586.6_Missense_Mutation_p.G420R|DMBT1_ENST00000368909.3_Missense_Mutation_p.G1569R|DMBT1_ENST00000330163.4_Missense_Mutation_p.G941R|DMBT1_ENST00000368956.2_Missense_Mutation_p.G941R Q9UGM3 DMBT1_HUMAN deleted in malignant brain tumors 1 1569 SRCR 12. epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3) 72 all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238) CCAGGGCTCAGGACCCATTGT 0.597000 8 344 0 0 1 0 0 RBPJL 11317 broad.mit.edu 37 20 43945558 43945558 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr20:43945558G>A ENST00000343694.3 + 12 1585 c.1513G>A c.(1513-1515)Gag>Aag p.E505K RBPJL_ENST00000372743.1_Missense_Mutation_p.E504K|RBPJL_ENST00000372741.3_3'UTR|RBPJL_ENST00000464504.1_3'UTR NM_014276.2 NP_055091.2 Q9UBG7 RBPJL_HUMAN recombination signal binding protein for immunoglobulin kappa J region-like 505 IPT/TIG. signal transduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 Myeloproliferative disorder(115;0.0122) CATCCATCAGGAGTTCACGCG 0.716000 17 165 0 0 1 0 0 VWCE 220001 broad.mit.edu 37 11 61026453 61026453 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:61026453G>A ENST00000335613.5 - 20 2948 c.2562C>T c.(2560-2562)gcC>gcT p.A854A VWCE_ENST00000535710.1_Silent_p.A319A NM_152718.2 NP_689931.2 Q96DN2 VWCE_HUMAN von Willebrand factor C and EGF domains 854 Pro-rich. extracellular region calcium ion binding biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 37 GTAGAGTGGGGGCTCCTGGAG 0.652000 26 37 0 0 1 0 0 GPRC5C 55890 broad.mit.edu 37 17 72436061 72436061 + Nonsense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:72436061G>A ENST00000392627.1 + 2 1407 c.281G>A c.(280-282)tGg>tAg p.W94* GPRC5C_ENST00000342648.5_Intron|GPRC5C_ENST00000392629.2_Nonsense_Mutation_p.W61*|GPRC5C_ENST00000481232.1_Nonsense_Mutation_p.W94* NM_022036.2 NP_071319.2 Q9NQ84 GPC5C_HUMAN G protein-coupled receptor, family C, group 5, member C 49 cytoplasmic vesicle membrane|integral to plasma membrane G-protein coupled receptor activity|protein binding central_nervous_system(1)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1) 17 TCTGGGGCGTGGGGCATCGTC 0.657000 30 117 0 0 1 0 0 CES1 1066 broad.mit.edu 37 16 55844484 55844484 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr16:55844484C>T ENST00000422046.2 - 11 1538 c.1257G>A c.(1255-1257)ttG>ttA p.L419L CES1_ENST00000360526.3_Silent_p.L421L|CES1_ENST00000361503.4_Silent_p.L420L P23141 EST1_HUMAN carboxylesterase 1 420 response to toxin endoplasmic reticulum lumen carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity all cancers(182;0.13)|Epithelial(162;0.137) Aminoglutethimide(DB00357)|Bezafibrate(DB01393)|Cholestyramine(DB01432)|Moexipril(DB00691) CATCTGCTATCAAGTCCAGGA 0.493000 56 60 0 0 1 0 0 IL31RA 133396 broad.mit.edu 37 5 55202058 55202058 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:55202058G>A ENST00000396834.1 + 11 1633 c.1137G>A c.(1135-1137)gaG>gaA p.E379E IL31RA_ENST00000490985.1_Silent_p.E256E|IL31RA_ENST00000297015.3_Silent_p.E256E|IL31RA_ENST00000396836.2_Silent_p.E398E|IL31RA_ENST00000447346.2_Silent_p.E398E|IL31RA_ENST00000354961.4_Silent_p.E379E|IL31RA_ENST00000359040.5_Silent_p.E398E NM_001242638.1 NP_001229567.1 Q8NI17 IL31R_HUMAN interleukin 31 receptor A 366 Fibronectin type-III 4. anti-apoptosis|defense response|homeostatic process|JAK-STAT cascade|macrophage differentiation|MAPKKK cascade|monocyte differentiation|negative regulation of macrophage activation|positive regulation of cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|transmembrane receptor protein tyrosine kinase signaling pathway integral to membrane|plasma membrane cytokine receptor activity|protein kinase binding|transcription coactivator activity endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|stomach(1) 21 Lung NSC(810;6.93e-05)|Prostate(74;0.00741)|Breast(144;0.0544)|Ovarian(174;0.223) TGGACTCAGAGCCCACCACCC 0.557000 36 61 0 0 1 0 0 PTPRK 5796 broad.mit.edu 37 6 128403753 128403753 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:128403753G>A ENST00000368227.3 - 10 1972 c.1606C>T c.(1606-1608)Cct>Tct p.P536S PTPRK_ENST00000368226.4_Missense_Mutation_p.P536S|PTPRK_ENST00000368210.3_Missense_Mutation_p.P536S|RP11-103C16.2_ENST00000417390.1_RNA|PTPRK_ENST00000368213.5_Missense_Mutation_p.P536S|PTPRK_ENST00000532331.1_Missense_Mutation_p.P536S|PTPRK_ENST00000524481.1_5'UTR|PTPRK_ENST00000368207.3_Missense_Mutation_p.P536S|PTPRK_ENST00000368215.3_Missense_Mutation_p.P536S Q15262 PTPRK_HUMAN protein tyrosine phosphatase, receptor type, K 536 Fibronectin type-III 3. cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity PTPRK/RSPO3(10) autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 72 all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24) GGAACTGCAGGATCAAATGAT 0.373000 10 40 0 0 1 0 0 RANBP2 5903 broad.mit.edu 37 2 109382112 109382112 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:109382112C>T ENST00000283195.6 + 20 5243 c.5117C>T c.(5116-5118)tCt>tTt p.S1706F NM_006267.4 NP_006258.3 P49792 RBP2_HUMAN RAN binding protein 2 1706 carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear pore peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding RANBP2/ALK(34) NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 129 ACACCTGCCTCTTCAGAGACA 0.433000 37 98 0 0 1 0 0 ASPA 443 broad.mit.edu 37 17 3384964 3384964 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:3384964C>T ENST00000263080.2 + 2 462 c.304C>T c.(304-306)Cca>Tca p.P102S SPATA22_ENST00000541913.1_Intron|ASPA_ENST00000456349.2_Missense_Mutation_p.P102S NM_000049.2 NP_000040.1 P45381 ACY2_HUMAN aspartoacylase 102 aspartate catabolic process cytoplasm|nucleus aminoacylase activity|aspartoacylase activity|hydrolase activity, acting on ester bonds|metal ion binding breast(2)|endometrium(2)|large_intestine(6)|lung(5)|stomach(1)|urinary_tract(1) 17 L-Aspartic Acid(DB00128) TTTATTTGGTCCAAAAGACAG 0.353000 21 41 0 0 1 0 0 BNIP3P1 319138 broad.mit.edu 37 14 28734143 28734143 + RNA SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr14:28734143C>T ENST00000550043.1 + 0 548 AAATATTCCCCCCAAGGAGTT 0.473000 38 75 0 0 1 0 0 BARX2 8538 broad.mit.edu 37 11 129306822 129306822 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:129306822G>A ENST00000281437.4 + 2 460 c.364G>A c.(364-366)Gag>Aag p.E122K BARX2_ENST00000526127.1_5'UTR NM_003658.4 NP_003649.2 Q9UMQ3 BARX2_HUMAN BARX homeobox 2 122 breast(1)|central_nervous_system(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 20 all_hematologic(175;0.0749) Lung NSC(97;0.000383)|all_lung(97;0.000824)|Breast(109;0.000962)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.00929)|Lung(977;0.0245)|LUSC - Lung squamous cell carcinoma(976;0.0253) CAGCGAGTCAGAGACGGAACA 0.662000 21 20 0 0 1 0 0 TAC1 6863 broad.mit.edu 37 7 97362045 97362045 + Missense_Mutation SNP A A C TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:97362045A>C ENST00000319273.5 + 2 418 c.121A>C c.(121-123)Aag>Cag p.K41Q TAC1_ENST00000350485.4_Missense_Mutation_p.K41Q|TAC1_ENST00000346867.4_Missense_Mutation_p.K41Q NM_003182.2 NP_003173.1 P20366 TKN1_HUMAN tachykinin, precursor 1 41 detection of abiotic stimulus|elevation of cytosolic calcium ion concentration|insemination|neuropeptide signaling pathway|synaptic transmission|tachykinin receptor signaling pathway extracellular space large_intestine(4)|lung(6)|urinary_tract(1) 11 all_cancers(62;3.95e-09)|all_epithelial(64;1.1e-09)|Esophageal squamous(72;0.00448)|Lung NSC(181;0.0358)|all_lung(186;0.0384) Bacitracin(DB00626) CGACCAGATCAAGGTGAGGCC 0.562000 38 134 0 0 1 0 0 SLC19A3 80704 broad.mit.edu 37 2 228564074 228564074 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:228564074G>A ENST00000258403.3 - 3 428 c.357C>T c.(355-357)gcC>gcT p.A119A SLC19A3_ENST00000541617.1_Silent_p.A115A|SLC19A3_ENST00000409287.1_Intron NM_025243.3 NP_079519.1 Q9BZV2 S19A3_HUMAN solute carrier family 19 (thiamine transporter), member 3 119 thiamine-containing compound metabolic process integral to membrane|plasma membrane folic acid binding|reduced folate carrier activity|thiamine uptake transmembrane transporter activity breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|skin(3) 30 Renal(207;0.0112)|all_lung(227;0.0335)|Lung NSC(271;0.142)|all_hematologic(139;0.21)|Esophageal squamous(248;0.236) Epithelial(121;1.58e-10)|all cancers(144;8.55e-08)|Lung(261;0.00948)|LUSC - Lung squamous cell carcinoma(224;0.0125) L-Cysteine(DB00151) AGGCCACCTCGGCGGCGGTGA 0.562000 13 205 0 0 1 0 0 ROBO1 6091 broad.mit.edu 37 3 79639008 79639008 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:79639008G>A ENST00000464233.1 - 2 167 c.54C>T c.(52-54)tcC>tcT p.S18S NM_002941.3 NP_002932.1 Q9Y6N7 ROBO1_HUMAN roundabout, axon guidance receptor, homolog 1 (Drosophila) 18 activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway cell surface|cytoplasm|integral to plasma membrane axon guidance receptor activity|identical protein binding|LRR domain binding breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1) 44 Lung SC(41;0.0257)|Lung NSC(201;0.0439) LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274) GGTGATTTGGGGATAAGCTGA 0.403000 53 118 0 0 1 0 0 FAT1 2195 broad.mit.edu 37 4 187517744 187517744 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:187517744G>A ENST00000441802.2 - 25 13159 c.12950C>T c.(12949-12951)cCt>cTt p.P4317L NM_005245.3 NP_005236.2 Q14517 FAT1_HUMAN FAT atypical cadherin 1 4317 actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4) 228 GCTGTCAGAAGGGGAGTTTGA 0.532000 HNSCC(5;0.00058) 6 57 0 0 1 0 0 CKM 1158 broad.mit.edu 37 19 45822920 45822920 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:45822920C>T ENST00000221476.3 - 2 226 c.52G>A c.(52-54)Gag>Aag p.E18K NM_001824.4 NP_001815.2 P06732 KCRM_HUMAN creatine kinase, muscle 18 Phosphagen kinase N-terminal. creatine metabolic process cytosol ATP binding|creatine kinase activity p.E18*(1) cervix(1)|endometrium(1)|large_intestine(8)|lung(3)|prostate(2)|skin(2) 17 Ovarian(192;0.0336)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;2.29e-44)|Epithelial(262;1.05e-38)|GBM - Glioblastoma multiforme(486;3.56e-07) Creatine(DB00148) GGGTACTCCTCCTCAGGCTTG 0.527000 10 181 0 0 1 0 0 ZNF812 729648 broad.mit.edu 37 19 9801731 9801731 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:9801731G>A ENST00000457674.2 - 5 966 c.448C>T c.(448-450)Cca>Tca p.P150S ZNF812_ENST00000536819.1_5'UTR NM_001199814.1 NP_001186743.1 P0C7V5 ZN812_HUMAN zinc finger protein 812 150 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 GCAAGATCTGGAGTTAAGGTG 0.373000 29 59 0 0 1 0 0 OR13C5 138799 broad.mit.edu 37 9 107361140 107361140 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:107361140C>T ENST00000374779.2 - 1 648 c.555G>A c.(553-555)atG>atA p.M185I NM_001004482.1 NP_001004482.1 Q8NGS8 O13C5_HUMAN olfactory receptor, family 13, subfamily C, member 5 185 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.M185I(1) endometrium(4)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(4) 28 AGGCCAGTTTCATGACAGCTA 0.398000 6 215 0 0 1 0 0 WASF1 8936 broad.mit.edu 37 6 110422863 110422863 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:110422863G>A ENST00000392589.1 - 10 2286 c.1450C>T c.(1450-1452)Cca>Tca p.P484S WASF1_ENST00000392586.1_Missense_Mutation_p.P484S|WASF1_ENST00000359451.2_Missense_Mutation_p.P484S|WASF1_ENST00000392587.2_Missense_Mutation_p.P484S|WASF1_ENST00000392588.1_Missense_Mutation_p.P484S NM_003931.2 NP_003922.1 Q92558 WASF1_HUMAN WAS protein family, member 1 484 actin filament polymerization|cellular component movement actin cytoskeleton actin binding breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1) 16 all_cancers(87;1.18e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00159)|Colorectal(196;0.0488) OV - Ovarian serous cystadenocarcinoma(136;0.0364)|Epithelial(106;0.051)|all cancers(137;0.0687) TGGCGCTTTGGCTCAGAAGCA 0.488000 115 48 0 0 1 0 0 LGR4 55366 broad.mit.edu 37 11 27389932 27389932 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:27389932C>T ENST00000379214.4 - 18 2781 c.2338G>A c.(2338-2340)Gaa>Aaa p.E780K LGR4_ENST00000389858.4_Missense_Mutation_p.E756K NM_018490.2 NP_060960.2 Q9BXB1 LGR4_HUMAN leucine-rich repeat containing G protein-coupled receptor 4 780 integral to membrane|plasma membrane protein-hormone receptor activity NS(3)|breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(10)|ovary(1) 32 TTCATTATTTCGGGGCTGATA 0.403000 69 117 0 0 1 0 0 KCNH6 81033 broad.mit.edu 37 17 61601504 61601504 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:61601504G>A ENST00000583023.1 + 2 92 c.81G>A c.(79-81)cgG>cgA p.R27R KCNH6_ENST00000456941.2_Silent_p.R27R|KCNH6_ENST00000581784.1_Silent_p.R27R|KCNH6_ENST00000580652.1_Silent_p.R27R|KCNH6_ENST00000314672.5_Silent_p.R27R NM_030779.2 NP_110406.1 Q9H252 KCNH6_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 6 27 regulation of transcription, DNA-dependent|signal transduction breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 54 Ibutilide(DB00308) CCCCAGGTCGGAAGTTCCTGA 0.562000 24 459 0 0 1 0 0 OR4C13 283092 broad.mit.edu 37 11 49974361 49974361 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:49974361C>T ENST00000555099.1 + 1 419 c.387C>T c.(385-387)caC>caT p.H129H NM_001001955.2 NP_001001955.2 Q8NGP0 OR4CD_HUMAN olfactory receptor, family 4, subfamily C, member 13 129 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1) 43 AGCCCTTGCACTATACCACCG 0.468000 54 106 0 0 1 0 0 C15orf27 123591 broad.mit.edu 37 15 76462208 76462208 + Missense_Mutation SNP A A T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr15:76462208A>T ENST00000388942.3 + 6 784 c.508A>T c.(508-510)Ata>Tta p.I170L NM_152335.2 NP_689548.2 Q2M3C6 CO027_HUMAN chromosome 15 open reading frame 27 170 integral to membrane endometrium(1)|large_intestine(1)|lung(10)|pancreas(1) 13 CGAAAACAAAATAGAGGTAAA 0.498000 21 203 0 0 1 0 0 C1orf173 127254 broad.mit.edu 37 1 75097536 75097536 + Missense_Mutation SNP A A T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:75097536A>T ENST00000326665.5 - 7 898 c.680T>A c.(679-681)aTt>aAt p.I227N C1orf173_ENST00000420661.2_Missense_Mutation_p.I30N NM_001002912.4 NP_001002912.4 Q5RHP9 CA173_HUMAN chromosome 1 open reading frame 173 227 p.I227S(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5) 184 GTAACTGTTAATGTTTGGAAG 0.398000 36 111 0 0 1 0 0 ADAMTS12 81792 broad.mit.edu 37 5 33588902 33588902 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:33588902C>T ENST00000504830.1 - 18 3002 c.2667G>A c.(2665-2667)ggG>ggA p.G889G ADAMTS12_ENST00000504582.1_5'UTR|ADAMTS12_ENST00000352040.3_Silent_p.G804G NM_030955.2 NP_112217.2 P58397 ATS12_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 12 889 TSP type-1 3. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5) 216 CTTCCCACTCCCCTGCCCACC 0.577000 HNSCC(64;0.19) OREG0016553 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 25 65 0 0 1 0 0 GPR133 283383 broad.mit.edu 37 12 131498747 131498747 + Silent SNP C C T rs144882598 byFrequency TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:131498747C>T ENST00000261654.5 + 13 1894 c.1335C>T c.(1333-1335)atC>atT p.I445I GPR133_ENST00000535015.1_Silent_p.I477I|GPR133_ENST00000376682.4_Silent_p.I131I NM_198827.3 NP_942122.2 Q6QNK2 GP133_HUMAN G protein-coupled receptor 133 445 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity p.I445I(1) NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4) 67 all_neural(191;0.0982)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06) TCCCAAGGATCGCGGAGGCCA 0.577000 34 61 0 0 1 0 0 HSF5 124535 broad.mit.edu 37 17 56565591 56565591 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:56565591G>A ENST00000323777.3 - 1 154 c.45C>T c.(43-45)ccC>ccT p.P15P NM_001080439.1 NP_001073908.1 Q4G112 HSF5_HUMAN heat shock transcription factor family member 5 15 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|skin(1) 16 Medulloblastoma(34;0.127)|all_neural(34;0.237) ACAGCTTGGCGGGGAAGTTGT 0.716000 15 60 0 0 1 0 0 PLCD1 5333 broad.mit.edu 37 3 38061707 38061707 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:38061707C>T ENST00000463876.1 - 2 587 c.234G>A c.(232-234)aaG>aaA p.K78K PLCD1_ENST00000334661.4_Silent_p.K57K NM_001130964.1 NP_001124436.1 P51178 PLCD1_HUMAN phospholipase C, delta 1 57 PH. intracellular signal transduction|lipid catabolic process|phospholipid metabolic process cytoplasm calcium ion binding|GTPase activating protein binding|phosphatidylinositol phospholipase C activity|signal transducer activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(6)|prostate(1)|skin(1) 24 KIRC - Kidney renal clear cell carcinoma(284;0.0519)|Kidney(284;0.0653) TCCGCATGACCTTGCGGGACT 0.592000 49 96 0 0 1 0 0 KCNU1 157855 broad.mit.edu 37 8 36763251 36763251 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:36763251G>A ENST00000399881.3 + 20 2072 c.2035G>A c.(2035-2037)Gat>Aat p.D679N NM_001031836.2 NP_001027006.2 A8MYU2 KCNU1_HUMAN potassium channel, subfamily U, member 1 679 voltage-gated potassium channel complex binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1) 57 KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634) TGTAGAACAAGATTCTGACCA 0.418000 10 138 0 0 1 0 0 CACNA1D 776 broad.mit.edu 37 3 53736799 53736799 + Missense_Mutation SNP A A G TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:53736799A>G ENST00000288139.3 + 9 1470 c.1352A>G c.(1351-1353)gAg>gGg p.E451G CACNA1D_ENST00000422281.2_Missense_Mutation_p.E451G|CACNA1D_ENST00000350061.5_Missense_Mutation_p.E451G NM_000720.2 NP_000711.1 Q01668 CAC1D_HUMAN calcium channel, voltage-dependent, L type, alpha 1D subunit 451 axon guidance|energy reserve metabolic process|regulation of insulin secretion voltage-gated calcium channel complex voltage-gated calcium channel activity breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 90 BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613) Verapamil(DB00661) ATCGATCCGGAGAATGAGGAA 0.552000 21 41 0 0 1 0 0 VWF 7450 broad.mit.edu 37 12 6103226 6103226 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:6103226G>A ENST00000261405.5 - 37 6654 c.6400C>T c.(6400-6402)Ccc>Tcc p.P2134S NM_000552.3 NP_000543.2 P04275 VWF_HUMAN von Willebrand factor 2134 VWFD 4. blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5) 129 Antihemophilic Factor(DB00025) GAGCTGTCGGGGACAAGACAC 0.582000 19 51 0 0 1 0 0 C2orf16 84226 broad.mit.edu 37 2 27804174 27804174 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:27804174G>A ENST00000408964.2 + 1 4786 c.4735G>A c.(4735-4737)Gag>Aag p.E1579K NM_032266.3 NP_115642.3 Q68DN1 CB016_HUMAN chromosome 2 open reading frame 16 1579 Arg-rich. breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1) 47 Acute lymphoblastic leukemia(172;0.155) CAGTTCCTTGGAGAGAAGACA 0.552000 66 152 0 0 1 0 0 NIPA2 81614 broad.mit.edu 37 15 23012350 23012350 + Missense_Mutation SNP A A T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr15:23012350A>T ENST00000337451.3 - 7 989 c.377T>A c.(376-378)aTg>aAg p.M126K NIPA2_ENST00000398013.3_Missense_Mutation_p.M126K|NIPA2_ENST00000398014.2_Missense_Mutation_p.M126K|NIPA2_ENST00000359727.4_Missense_Mutation_p.M107K|NIPA2_ENST00000539711.2_Missense_Mutation_p.M107K NM_030922.6 NP_112184.4 Q8N8Q9 NIPA2_HUMAN non imprinted in Prader-Willi/Angelman syndrome 2 126 early endosome|integral to membrane|plasma membrane endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|prostate(4)|skin(1) 15 all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488) all cancers(64;1.48e-06)|Epithelial(43;1.44e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000353) ATGAATGACCATAACTGTAGA 0.363000 26 76 0 0 1 0 0 ZNF646 9726 broad.mit.edu 37 16 31087899 31087899 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr16:31087899C>T ENST00000394979.2 + 1 677 c.254C>T c.(253-255)tCc>tTc p.S85F ZNF646_ENST00000300850.5_Missense_Mutation_p.S85F O15015 ZN646_HUMAN zinc finger protein 646 85 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3) 49 AAGGACTTCTCCAATCCCATG 0.637000 30 81 0 0 1 0 0 OR2T27 403239 broad.mit.edu 37 1 248814048 248814048 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:248814048G>A ENST00000344889.3 - 1 137 c.138C>T c.(136-138)atC>atT p.I46I NM_001001824.1 NP_001001824.1 Q8NH04 O2T27_HUMAN olfactory receptor, family 2, subfamily T, member 27 46 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|endometrium(2)|large_intestine(4)|lung(20)|skin(3)|stomach(1) 32 all_cancers(71;1.15e-05)|all_epithelial(71;5.29e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.089)|Lung NSC(105;0.0969)|Melanoma(84;0.199) all_cancers(173;0.237) OV - Ovarian serous cystadenocarcinoma(106;0.0265) GGATGAGAATGATCTTGACCA 0.532000 14 49 0 0 1 0 0 ANKFN1 162282 broad.mit.edu 37 17 54428302 54428302 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:54428302C>T ENST00000566473.2 + 4 373 c.373C>T c.(373-375)Cgg>Tgg p.R125W ANKFN1_ENST00000318698.2_Missense_Mutation_p.R125W Q8N957 ANKF1_HUMAN ankyrin-repeat and fibronectin type III domain containing 1 125 NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1) 53 AAGAACTGATCGGCTGAGTCT 0.423000 16 67 0 0 1 0 0 RP1L1 94137 broad.mit.edu 37 8 10467686 10467686 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:10467686C>T ENST00000382483.3 - 4 4145 c.3922G>A c.(3922-3924)Gaa>Aaa p.E1308K NM_178857.5 NP_849188.4 A6NKC6 A6NKC6_HUMAN retinitis pigmentosa 1-like 1 1308 intracellular signal transduction breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3) 148 COAD - Colon adenocarcinoma(149;0.0811) tctgttccttcttTAGTTTCC 0.493000 37 88 0 0 1 0 0 TSC1 7248 broad.mit.edu 37 9 135796822 135796822 + Splice_Site SNP G G A rs118203425 TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:135796822G>A ENST00000298552.3 - 8 886 c.663_splice c.e8-1 p.P222_splice TSC1_ENST00000440111.2_Splice_Site_p.P222_splice|TSC1_ENST00000403810.1_Splice_Site_p.P222_splice|TSC1_ENST00000545250.1_Splice_Site_p.P171_splice NM_000368.4|NM_001162426.1|NM_001162427.1 NP_000359.1|NP_001155898.1|NP_001155899.1 Q92574 TSC1_HUMAN tuberous sclerosis 1 222 activation of Rho GTPase activity|cell cycle arrest|cell-matrix adhesion|insulin receptor signaling pathway|negative regulation of cell proliferation|negative regulation of protein ubiquitination|negative regulation of TOR signaling cascade|negative regulation of translation|positive regulation of focal adhesion assembly|regulation of phosphoprotein phosphatase activity|regulation of stress fiber assembly|rRNA export from nucleus cell cortex|lamellipodium|membrane|TSC1-TSC2 complex chaperone binding|protein N-terminus binding p.?(1) NS(1)|bone(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(9)|lung(20)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 65 OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06) CTCCATCATTGGCTAGAAGAG 0.378000 """D, Mis, N, F, S""" """hamartoma, renal cell""" Tuberous Sclerosis 17 66 0 0 1 0 0 EFCAB6 64800 broad.mit.edu 37 22 44161207 44161207 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr22:44161207G>A ENST00000262726.7 - 5 671 c.418C>T c.(418-420)Cta>Tta p.L140L EFCAB6_ENST00000356087.4_Silent_p.L34L|EFCAB6_ENST00000396231.2_5'UTR|EFCAB6_ENST00000358439.4_Silent_p.L34L NM_022785.3 NP_073622.2 Q5THR3 EFCB6_HUMAN EF-hand calcium binding domain 6 140 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus calcium ion binding breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 68 Ovarian(80;0.0247)|all_neural(38;0.025) TTTATATATAGGTCAATTCCA 0.408000 8 138 0 0 1 0 0 USP6 9098 broad.mit.edu 37 17 5073878 5073878 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:5073878C>T ENST00000574788.1 + 36 5852 c.3622C>T c.(3622-3624)Cgg>Tgg p.R1208W USP6_ENST00000250066.6_Missense_Mutation_p.R1208W|USP6_ENST00000332776.4_3'UTR|USP6_ENST00000304328.5_Missense_Mutation_p.R891W P35125 UBP6_HUMAN ubiquitin specific peptidase 6 (Tre-2 oncogene) 1208 protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process lysosome|plasma membrane|recycling endosome calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 34 AGGGAGGCTCCGGCTGCCCCA 0.527000 T """COL1A1, CDH11, ZNF9, OMD""" aneurysmal bone cysts 24 44 0 0 1 0 0 PHF21B 112885 broad.mit.edu 37 22 45316298 45316298 + Nonsense_Mutation SNP C C A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr22:45316298C>A ENST00000313237.5 - 3 343 c.193G>T c.(193-195)Gga>Tga p.G65* PHF21B_ENST00000403565.1_De_novo_Start_OutOfFrame|PHF21B_ENST00000447824.3_Nonsense_Mutation_p.G53*|PHF21B_ENST00000404079.2_Nonsense_Mutation_p.G53*|PHF21B_ENST00000396103.3_Nonsense_Mutation_p.G65* NM_138415.4 NP_612424.1 Q96EK2 PF21B_HUMAN PHD finger protein 21B 65 zinc ion binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(14)|ovary(2)|prostate(1)|skin(2) 25 all_neural(38;0.00802)|Glioma(61;0.0353)|Ovarian(80;0.0731) UCEC - Uterine corpus endometrioid carcinoma (28;0.0203) ACTGCCGCTCCTTGCCCGGCC 0.627000 17 23 5.35267e-07 5.37686e-07 1 1 0 KIF12 113220 broad.mit.edu 37 9 116859673 116859673 + Missense_Mutation SNP A A G TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:116859673A>G ENST00000374118.3 - 4 377 c.140T>C c.(139-141)gTt>gCt p.V47A KIF12_ENST00000473174.1_Intron NM_138424.1 NP_612433.1 Q96FN5 KIF12_HUMAN kinesin family member 12 180 Kinesin-motor. microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1) 17 GTTCCAGCGAACAGGGAGGGG 0.622000 29 42 0 0 1 0 0 ALPK2 115701 broad.mit.edu 37 18 56246378 56246378 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr18:56246378C>T ENST00000361673.3 - 4 1843 c.1630G>A c.(1630-1632)Gga>Aga p.G544R ALPK2_ENST00000587399.1_5'UTR NM_052947.3 NP_443179.3 Q86TB3 ALPK2_HUMAN alpha-kinase 2 544 ATP binding|protein serine/threonine kinase activity NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2) 84 TTGGGATTTCCCTTCATTCCC 0.537000 OREG0025011 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 67 155 0 0 1 0 0 SOAT2 8435 broad.mit.edu 37 12 53509415 53509415 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:53509415C>T ENST00000301466.3 + 6 745 c.685C>T c.(685-687)Cgt>Tgt p.R229C NM_003578.3 NP_003569.1 O75908 SOAT2_HUMAN sterol O-acyltransferase 2 229 cholesterol efflux|cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|macrophage derived foam cell differentiation|very-low-density lipoprotein particle assembly brush border|endoplasmic reticulum membrane|integral to membrane|microsome cholesterol binding|cholesterol O-acyltransferase activity|fatty-acyl-CoA binding endometrium(5)|kidney(3)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|skin(1) 18 GCCGGCCTCCCGTTGTGTCCT 0.706000 3 5 0 0 1 0 0 CDK11B 984 broad.mit.edu 37 1 1580560 1580560 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:1580560C>T ENST00000407249.3 - 7 566 c.567G>A c.(565-567)aaG>aaA p.K189K CDK11B_ENST00000317673.7_Silent_p.K187K|CDK11B_ENST00000340677.5_Silent_p.K176K|CDK11B_ENST00000341832.6_Silent_p.K142K P21127 CD11B_HUMAN cyclin-dependent kinase 11B 186 Glu-rich. apoptosis|cell proliferation|mitosis|regulation of cell growth|regulation of mRNA processing|regulation of transcription, DNA-dependent cytoplasm|nucleus ATP binding|cyclin-dependent protein kinase activity|protein binding endometrium(2)|large_intestine(3)|lung(4)|skin(1)|stomach(2) 12 CCCGCTGCTCCTTCTGCTGCT 0.672000 9 20 0 0 1 0 0 KRTAP10-3 386682 broad.mit.edu 37 21 45978020 45978020 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr21:45978020G>A ENST00000391620.1 - 1 623 c.579C>T c.(577-579)tcC>tcT p.S193S TSPEAR_ENST00000323084.4_Intron|TSPEAR_ENST00000397916.1_Intron NM_198696.2 NP_941969.2 P60369 KR103_HUMAN keratin associated protein 10-3 193 18 X 5 AA repeats of C-C-X(3). keratin filament kidney(1)|lung(4)|prostate(1)|skin(1) 7 GGGACACGCAGGAGGCCGGGC 0.721000 32 60 0 0 1 0 0 VWA8 23078 broad.mit.edu 37 13 42465714 42465714 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr13:42465714G>A ENST00000379310.3 - 5 561 c.493C>T c.(493-495)Cgt>Tgt p.R165C VWA8_ENST00000281496.6_Missense_Mutation_p.R165C NM_015058.1 NP_055873.1 von Willebrand factor A domain containing 8 GTGGCTGCACGAACTGCACAC 0.393000 37 60 0 0 1 0 0 CCRL2 9034 broad.mit.edu 37 3 46449886 46449886 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:46449886C>T ENST00000399036.3 + 2 668 c.316C>T c.(316-318)Ctc>Ttc p.L106F ACKR5_ENST00000400882.2_Missense_Mutation_p.L106F|ACKR5_ENST00000357392.4_Missense_Mutation_p.L118F|ACKR5_ENST00000400880.3_Missense_Mutation_p.L106F NM_003965.4 NP_003956.2 GTGTAAAATTCTCATTGGACT 0.433000 34 85 0 0 1 0 0 ZKSCAN7 55888 broad.mit.edu 37 3 44612076 44612076 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:44612076G>A ENST00000273320.3 + 6 1903 c.1474G>A c.(1474-1476)Gag>Aag p.E492K ZKSCAN7_ENST00000341840.3_Intron|RP11-944L7.4_ENST00000457331.1_RNA|ZKSCAN7_ENST00000426540.1_Missense_Mutation_p.E492K|ZKSCAN7_ENST00000431636.1_Intron NM_018651.2 NP_061121.2 zinc finger with KRAB and SCAN domains 7 CCATACTGGGGAGAAACCTTA 0.448000 56 125 0 0 1 0 0 SLC6A9 6536 broad.mit.edu 37 1 44467162 44467162 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:44467162G>A ENST00000372310.3 - 9 1265 c.1100C>T c.(1099-1101)gCc>gTc p.A367V SLC6A9_ENST00000357730.2_Missense_Mutation_p.A386V|SLC6A9_ENST00000372307.3_Missense_Mutation_p.A302V|SLC6A9_ENST00000475075.2_Missense_Mutation_p.A256V|SLC6A9_ENST00000537678.1_Missense_Mutation_p.A302V|SLC6A9_ENST00000372306.3_Missense_Mutation_p.A367V|SLC6A9_ENST00000360584.2_Missense_Mutation_p.A440V NM_001024845.2 NP_001020016.1 P48067 SC6A9_HUMAN solute carrier family 6 (neurotransmitter transporter, glycine), member 9 440 integral to plasma membrane|membrane fraction glycine:sodium symporter activity|neurotransmitter:sodium symporter activity endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(2) 22 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0511) Glycine(DB00145) AGCCACGAAGGCCAGGCCAGG 0.607000 5 141 0 0 1 0 0 CDH11 1009 broad.mit.edu 37 16 64984701 64984701 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr16:64984701G>A ENST00000394156.3 - 12 2316 c.1863C>T c.(1861-1863)atC>atT p.I621I CDH11_ENST00000566827.1_Silent_p.I495I|CDH11_ENST00000268603.4_Silent_p.I621I P55287 CAD11_HUMAN cadherin 11, type 2, OB-cadherin (osteoblast) 621 adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development integral to membrane|plasma membrane calcium ion binding|protein binding p.I621I(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2) 88 Ovarian(137;0.0973) OV - Ovarian serous cystadenocarcinoma(108;0.205) CGAGGATGGCGATCAGGGCGC 0.622000 T USP6 aneurysmal bone cysts TSP Lung(24;0.17) 22 28 0 0 1 0 0 RTN1 6252 broad.mit.edu 37 14 60193899 60193899 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr14:60193899C>T ENST00000267484.5 - 3 1838 c.1503G>A c.(1501-1503)gaG>gaA p.E501E NM_021136.2 NP_066959.1 Q16799 RTN1_HUMAN reticulon 1 501 neuron differentiation integral to endoplasmic reticulum membrane signal transducer activity central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(30)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1) 49 OV - Ovarian serous cystadenocarcinoma(108;0.0968) GGACGCCAGTCTCCTCCCGGA 0.726000 10 8 0 0 1 0 0 DSCAM 1826 broad.mit.edu 37 21 41684228 41684228 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr21:41684228G>A ENST00000400454.1 - 9 2319 c.1842C>T c.(1840-1842)ttC>ttT p.F614F NM_001389.3 NP_001380.2 O60469 DSCAM_HUMAN Down syndrome cell adhesion molecule 614 Ig-like C2-type 7. cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction protein binding NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4) 142 all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103) CACAGGGGATGAAGACCCGCT 0.493000 12 40 0 0 1 0 0 TTLL9 164395 broad.mit.edu 37 20 30486303 30486303 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr20:30486303G>A ENST00000375938.4 + 4 394 c.141G>A c.(139-141)aaG>aaA p.K47K TTLL9_ENST00000310998.4_5'UTR|TTLL9_ENST00000375934.4_Silent_p.K29K|TTLL9_ENST00000375922.4_5'UTR|TTLL9_ENST00000535842.1_Silent_p.K47K|TTLL9_ENST00000375921.2_5'UTR Q3SXZ7 TTLL9_HUMAN tubulin tyrosine ligase-like family, member 9 47 TTL. protein modification process cilium|microtubule|microtubule basal body ATP binding|tubulin-tyrosine ligase activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 26 Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347) TCCGGTTCAAGACCACCCTCA 0.532000 7 93 0 0 1 0 0 RXFP2 122042 broad.mit.edu 37 13 32376410 32376410 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr13:32376410G>A ENST00000298386.2 + 18 2204 c.2133G>A c.(2131-2133)agG>agA p.R711R RXFP2_ENST00000380314.1_Silent_p.R687R NM_130806.3 NP_570718.1 Q8WXD0 RXFP2_HUMAN relaxin/insulin-like family peptide receptor 2 711 integral to membrane|plasma membrane cervix(1)|endometrium(2)|large_intestine(15)|lung(13)|prostate(1)|stomach(1) 33 Lung SC(185;0.0262) all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535) AACATCAGAGGAAATCAATTT 0.353000 16 158 0 0 1 0 0 DNAH3 55567 broad.mit.edu 37 16 21078695 21078695 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr16:21078695C>T ENST00000261383.3 - 24 3426 c.3427G>A c.(3427-3429)Gca>Aca p.A1143T DNAH3_ENST00000415178.1_Missense_Mutation_p.A1143T NM_017539.1 NP_060009.1 Q8TD57 DYH3_HUMAN dynein, axonemal, heavy chain 3 1143 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6) 202 GBM - Glioblastoma multiforme(48;0.207) AGCTTCTCTGCCATCCGTGGC 0.468000 36 78 0 0 1 0 0 RPLP0P2 113157 broad.mit.edu 37 11 61404401 61404401 + RNA SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:61404401G>A ENST00000496593.1 + 0 1005 NR_002775.2 TCGCATCTGGGAGAATGTGGG 0.602000 30 45 0 0 1 0 0 RAI1 10743 broad.mit.edu 37 17 17697984 17697984 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:17697984C>T ENST00000353383.1 + 3 2191 c.1722C>T c.(1720-1722)agC>agT p.S574S RAI1_ENST00000261641.6_Silent_p.S574S NM_030665.3 NP_109590.3 Q7Z5J4 RAI1_HUMAN retinoic acid induced 1 574 cytoplasm|nucleus zinc ion binding breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7) 48 READ - Rectum adenocarcinoma(1115;0.0276) CCTTCCAGAGCCTACACGGCA 0.627000 56 149 0 0 1 0 0 FOXP1 27086 broad.mit.edu 37 3 71008538 71008538 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:71008538G>A ENST00000318789.4 - 21 2419 c.1894C>T c.(1894-1896)Cct>Tct p.P632S FOXP1_ENST00000491238.1_Missense_Mutation_p.P634S|FOXP1_ENST00000468577.1_Missense_Mutation_p.P568S|FOXP1_ENST00000493089.1_Missense_Mutation_p.P631S|FOXP1_ENST00000484350.1_Missense_Mutation_p.P556S|FOXP1_ENST00000475937.1_Missense_Mutation_p.P632S|FOXP1_ENST00000498215.1_Missense_Mutation_p.P632S NM_001244810.1|NM_001244813.1|NM_032682.5 NP_001231739.1|NP_001231742.1|NP_116071.2 Q9H334 FOXP1_HUMAN forkhead box P1 632 cardiac muscle cell differentiation|embryo development|immunoglobulin V(D)J recombination|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of immunoglobulin production|positive regulation of mesenchymal cell proliferation|pre-B cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|skeletal muscle tissue development|smooth muscle tissue development cytoplasm|transcription factor complex chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 31 Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209) BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05) ACGTGTACAGGATGCCTGGAA 0.517000 T PAX5 ALL 6 62 0 0 1 0 0 OR6C70 390327 broad.mit.edu 37 12 55863112 55863112 + Missense_Mutation SNP C C T rs111636907 byFrequency TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:55863112C>T ENST00000327335.4 - 1 810 c.811G>A c.(811-813)Gga>Aga p.G271R RP11-110A12.2_ENST00000555138.1_RNA|RP11-110A12.2_ENST00000556750.1_RNA|RP11-110A12.2_ENST00000555146.1_RNA|RP11-110A12.2_ENST00000554049.1_RNA NM_001005499.1 NP_001005499.1 A6NIJ9 O6C70_HUMAN olfactory receptor, family 6, subfamily C, member 70 271 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 18 ACAGTTACTCCTTTGCTTAAA 0.383000 4 113 0 0 1 0 0 GHITM 27069 broad.mit.edu 37 10 85910627 85910627 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:85910627C>T ENST00000372134.3 + 8 1137 c.944C>T c.(943-945)cCc>cTc p.P315L NM_014394.2 NP_055209.2 Q9H3K2 GHITM_HUMAN growth hormone inducible transmembrane protein 315 apoptosis integral to membrane|mitochondrial inner membrane breast(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(2) 10 AAATATGATCCCATTAACTCG 0.358000 20 61 0 0 1 0 0 CAMKV 79012 broad.mit.edu 37 3 49897691 49897691 + Splice_Site SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:49897691C>T ENST00000477224.1 - 10 1333 c.854_splice c.e10-1 p.W285_splice CAMKV_ENST00000296471.7_Splice_Site_p.W257_splice|CAMKV_ENST00000463537.1_Splice_Site_p.W285_splice|CAMKV_ENST00000467248.1_Splice_Site_p.W210_splice|CAMKV_ENST00000466940.1_Splice_Site_p.W242_splice|CAMKV_ENST00000488336.1_Splice_Site_p.W285_splice Q8NCB2 CAMKV_HUMAN CaM kinase-like vesicle-associated 285 Protein kinase. W -> S (in Ref. 1; BAC11248). cytoplasmic vesicle membrane|plasma membrane ATP binding|protein serine/threonine kinase activity central_nervous_system(1)|large_intestine(2)|lung(2)|ovary(2) 7 BRCA - Breast invasive adenocarcinoma(193;4.62e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621) TGCCAGAAATCCTGGAAAGGG 0.507000 22 59 0 0 1 0 0 DGCR5 26220 broad.mit.edu 37 22 18979625 18979625 + RNA SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr22:18979625C>T ENST00000438934.1 + 0 2976 DGCR5_ENST00000537283.1_RNA|DGCR5_ENST00000440005.2_RNA TGTGTCTCCCCCTTCAGCCCC 0.632000 6 11 0 0 1 0 0 MCTP1 79772 broad.mit.edu 37 5 94289029 94289029 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:94289029C>T ENST00000515393.1 - 3 874 c.875G>A c.(874-876)gGa>gAa p.G292E MCTP1_ENST00000505208.1_Missense_Mutation_p.G71E|MCTP1_ENST00000429576.2_Missense_Mutation_p.G71E|MCTP1_ENST00000312216.8_Missense_Mutation_p.G71E NM_024717.4 NP_078993.4 Q6DN14 MCTP1_HUMAN multiple C2 domains, transmembrane 1 292 C2 1. calcium-mediated signaling integral to membrane|membrane fraction calcium ion binding p.G292E(1) breast(1)|endometrium(3)|large_intestine(13)|liver(2)|lung(13)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1) 41 all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207) all cancers(79;9.1e-17) AACTTCTTTTCCTCCGATTTT 0.373000 4 22 0 0 1 0 0 SON 6651 broad.mit.edu 37 21 34929558 34929558 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr21:34929558C>T ENST00000356577.4 + 4 6732 c.6257C>T c.(6256-6258)cCa>cTa p.P2086L SON_ENST00000290239.6_Missense_Mutation_p.P2086L|SON_ENST00000300278.4_Missense_Mutation_p.P2086L|SON_ENST00000381692.2_Missense_Mutation_p.P114L|SON_ENST00000381679.4_Missense_Mutation_p.P2086L NM_138927.1 NP_620305.1 P18583 SON_HUMAN SON DNA binding protein 2086 anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation nuclear speck DNA binding|double-stranded RNA binding breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 72 CCTGCACCTCCACCTACTATA 0.413000 21 64 0 0 1 0 0 SIN3B 23309 broad.mit.edu 37 19 16980720 16980720 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:16980720C>T ENST00000379803.1 + 14 2366 c.2352C>T c.(2350-2352)ttC>ttT p.F784F SIN3B_ENST00000595541.1_Silent_p.F342F|SIN3B_ENST00000248054.5_Silent_p.F752F NM_015260.2 NP_056075.1 O75182 SIN3B_HUMAN SIN3 transcription regulator family member B 784 cellular lipid metabolic process|transcription, DNA-dependent nucleoplasm protein binding endometrium(4)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 26 GGTACTTCTTCCTGCGCCTGC 0.622000 26 52 0 0 1 0 0 IRGC 56269 broad.mit.edu 37 19 44223023 44223023 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:44223023C>T ENST00000244314.5 + 2 512 c.313C>T c.(313-315)Cct>Tct p.P105S NM_019612.3 NP_062558.1 Q6NXR0 IIGP5_HUMAN immunity-related GTPase family, cinema 105 membrane GTP binding|hydrolase activity, acting on acid anhydrides central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(2) 25 Prostate(69;0.0435) CCCACAGTTCCCTGACGTGAC 0.637000 34 56 0 0 1 0 0 SULF1 23213 broad.mit.edu 37 8 70488252 70488252 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:70488252G>A ENST00000260128.4 + 6 937 c.220G>A c.(220-222)Ggg>Agg p.G74R SULF1_ENST00000419716.3_Missense_Mutation_p.G74R|SULF1_ENST00000402687.4_Missense_Mutation_p.G74R|SULF1_ENST00000458141.2_Missense_Mutation_p.G74R NM_015170.2 NP_055985.2 Q8IWU6 SULF1_HUMAN sulfatase 1 74 apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway cell surface|endoplasmic reticulum|extracellular space|Golgi stack arylsulfatase activity|calcium ion binding breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 52 Breast(64;0.0654) Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534) GGAACATGGGGGGGCCACCTT 0.502000 26 29 0 0 1 0 0 ARHGAP9 64333 broad.mit.edu 37 12 57872925 57872925 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:57872925G>A ENST00000393797.2 - 5 670 c.478C>T c.(478-480)Cct>Tct p.P160S ARHGAP9_ENST00000356411.2_Missense_Mutation_p.P89S|ARHGAP9_ENST00000424809.2_Missense_Mutation_p.P89S|ARHGAP9_ENST00000393791.3_Missense_Mutation_p.P89S|ARHGAP9_ENST00000550288.1_Missense_Mutation_p.P168S Q9BRR9 RHG09_HUMAN Rho GTPase activating protein 9 89 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|protein binding endometrium(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(1) 30 GBM - Glioblastoma multiforme(3;3.37e-34) CTCTGGGAAGGGATGGATTCC 0.562000 71 158 0 0 1 0 0 SPTLC3 55304 broad.mit.edu 37 20 13055055 13055055 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr20:13055055C>T ENST00000399002.2 + 4 791 c.517C>T c.(517-519)Ctt>Ttt p.L173F SPTLC3_ENST00000378194.4_Missense_Mutation_p.L173F NM_018327.2 NP_060797.2 Q9NUV7 SPTC3_HUMAN serine palmitoyltransferase, long chain base subunit 3 173 sphingoid biosynthetic process integral to membrane|serine C-palmitoyltransferase complex pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups breast(1)|endometrium(1)|large_intestine(7)|lung(14)|skin(1)|urinary_tract(1) 25 Pyridoxal Phosphate(DB00114) CTTCCTTGGTCTTGCAGCCAA 0.458000 11 110 0 0 1 0 0 SETDB1 9869 broad.mit.edu 37 1 150921966 150921966 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:150921966C>T ENST00000271640.5 + 12 1735 c.1545C>T c.(1543-1545)gtC>gtT p.V515V SETDB1_ENST00000368969.4_Silent_p.V515V|SETDB1_ENST00000459773.1_Intron NM_001145415.1|NM_012432.3 NP_001138887.1|NP_036564.3 Q15047 SETB1_HUMAN SET domain, bifurcated 1 515 regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|Golgi apparatus|nucleus|plasma membrane DNA binding|histone-lysine N-methyltransferase activity|protein binding|zinc ion binding NS(1)|large_intestine(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1) 12 all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211) GTGAAAATGTCTCTGGTGGGA 0.507000 15 217 0 0 1 0 0 MYPN 84665 broad.mit.edu 37 10 69921518 69921518 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:69921518G>A ENST00000373675.3 + 8 1721 c.1492G>A c.(1492-1494)Gat>Aat p.D498N MYPN_ENST00000358913.5_Intron|MYPN_ENST00000354393.2_Intron|MYPN_ENST00000540630.1_Intron Q86TC9 MYPN_HUMAN myopalladin 0 Ig-like 2.|Interaction with CARP. nucleus|sarcomere actin binding breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5) 94 AGGTAAAGATGATTTCAACTT 0.279000 31 54 0 0 1 0 0 TLR5 7100 broad.mit.edu 37 1 223285979 223285979 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:223285979G>A ENST00000540964.1 - 4 856 c.395C>T c.(394-396)tCt>tTt p.S132F TLR5_ENST00000342210.6_Missense_Mutation_p.S132F O60602 TLR5_HUMAN toll-like receptor 5 132 cellular response to mechanical stimulus|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of toll-like receptor signaling pathway integral to membrane|plasma membrane interleukin-1 receptor binding|transmembrane receptor activity p.S132C(1) breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 32 GBM - Glioblastoma multiforme(131;0.0851) TACAGCATCAGAGAGACCACA 0.383000 44 102 0 0 1 0 0 PEF1 553115 broad.mit.edu 37 1 32096302 32096302 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:32096302G>A ENST00000373703.4 - 5 789 c.767C>T c.(766-768)gCc>gTc p.A256V HCRTR1_ENST00000373705.1_Intron NM_012392.3 NP_036524.1 Q9UBV8 PEF1_HUMAN penta-EF-hand domain containing 1 256 EF-hand 5.|Required for interaction with PDCD6. response to calcium ion cytoplasm|membrane calcium ion binding|protein heterodimerization activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|prostate(2)|upper_aerodigestive_tract(1) 7 Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)|all_neural(195;0.186) STAD - Stomach adenocarcinoma(196;0.0546) CTCCCGGAAGGCCTCTGTCAG 0.582000 23 48 0 0 1 0 0 SIPA1L2 57568 broad.mit.edu 37 1 232561550 232561550 + Missense_Mutation SNP G G A rs150962063 TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:232561550G>A ENST00000366630.1 - 17 4773 c.4415C>T c.(4414-4416)tCg>tTg p.S1472L SIPA1L2_ENST00000262861.4_Missense_Mutation_p.S1472L|SIPA1L2_ENST00000308942.4_Missense_Mutation_p.S546L Q9P2F8 SI1L2_HUMAN signal-induced proliferation-associated 1 like 2 1472 regulation of small GTPase mediated signal transduction intracellular GTPase activator activity p.S1472L(1) NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 103 all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186) CCCATAGAACGAAAACTAGGG 0.507000 17 39 0 0 1 0 0 MAP3K13 9175 broad.mit.edu 37 3 185191457 185191457 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:185191457G>A ENST00000265026.3 + 11 2672 c.2338G>A c.(2338-2340)Gaa>Aaa p.E780K MAP3K13_ENST00000446828.1_Missense_Mutation_p.E573K|MAP3K13_ENST00000443863.1_Missense_Mutation_p.E636K|MAP3K13_ENST00000535426.1_Missense_Mutation_p.E636K|MAP3K13_ENST00000424227.1_Missense_Mutation_p.E780K NM_004721.4 NP_004712.1 O43283 M3K13_HUMAN mitogen-activated protein kinase kinase kinase 13 780 activation of MAPKK activity|JNK cascade|positive regulation of NF-kappaB transcription factor activity|protein autophosphorylation cytoplasm|membrane|membrane fraction ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding p.E780K(2) NS(1)|biliary_tract(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(13)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 54 all_cancers(143;7.21e-11)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;1.93e-20) GGAAGAAAATGAATTCAGCGG 0.537000 101 174 0 0 1 0 0 SAMD11 148398 broad.mit.edu 37 1 879376 879376 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:879376G>A ENST00000342066.3 + 14 1972 c.1889G>A c.(1888-1890)cGa>cAa p.R630Q NM_152486.2 NP_689699.2 Q96NU1 SAM11_HUMAN sterile alpha motif domain containing 11 630 nucleus breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.74e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.93e-23)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.000472)|Kidney(185;0.0023)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.199) GCCCCGGAGCGAGAACTCGGC 0.677000 28 97 0 0 1 0 0 MAGEC1 9947 broad.mit.edu 37 X 140996081 140996081 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chrX:140996081C>T ENST00000285879.4 + 4 3177 c.2891C>T c.(2890-2892)tCc>tTc p.S964F MAGEC1_ENST00000406005.2_Missense_Mutation_p.S31F NM_005462.4 NP_005453.2 O60732 MAGC1_HUMAN melanoma antigen family C, 1 964 MAGE. protein binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1) 127 Acute lymphoblastic leukemia(192;6.56e-05) TTTGGCATTTCCCTGAGAGAA 0.488000 HNSCC(15;0.026) 129 50 0 0 1 0 0 UGT3A1 133688 broad.mit.edu 37 5 35968201 35968201 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:35968201G>A ENST00000274278.3 - 3 588 c.231C>T c.(229-231)atC>atT p.I77I UGT3A1_ENST00000513233.1_Intron|UGT3A1_ENST00000507113.1_Silent_p.I43I|UGT3A1_ENST00000333811.4_Silent_p.I23I|UGT3A1_ENST00000503189.1_Silent_p.I77I NM_152404.3 NP_689617.3 Q6NUS8 UD3A1_HUMAN UDP glycosyltransferase 3 family, polypeptide A1 77 integral to membrane glucuronosyltransferase activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4) 46 all_lung(31;0.000197) Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) AAAACCACCTGATAACTTGGT 0.308000 19 59 0 0 1 0 0 TRBV30 28557 broad.mit.edu 37 7 142510296 142510296 + RNA SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:142510296C>T ENST00000417977.2 - 0 421 AGATAGAAGCCAGAGTCACTG 0.572000 15 34 0 0 1 0 0 OPRM1 4988 broad.mit.edu 37 6 154360682 154360682 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:154360682G>A ENST00000434900.2 + 3 800 c.282G>A c.(280-282)atG>atA p.M94I OPRM1_ENST00000414028.2_Start_Codon_SNP_p.M1I|OPRM1_ENST00000518759.1_Intron|OPRM1_ENST00000435918.2_Start_Codon_SNP_p.M1I|OPRM1_ENST00000452687.2_Start_Codon_SNP_p.M1I|OPRM1_ENST00000419506.2_Start_Codon_SNP_p.M1I|OPRM1_ENST00000524163.1_Start_Codon_SNP_p.M1I|OPRM1_ENST00000428397.2_Start_Codon_SNP_p.M1I|OPRM1_ENST00000523520.1_3'UTR|OPRM1_ENST00000229768.5_Start_Codon_SNP_p.M1I|OPRM1_ENST00000337049.4_Start_Codon_SNP_p.M1I|OPRM1_ENST00000330432.7_Start_Codon_SNP_p.M1I|OPRM1_ENST00000360422.4_Start_Codon_SNP_p.M1I|OPRM1_ENST00000520708.1_Intron NM_001145279.2 NP_001138751.1 P35372 OPRM_HUMAN opioid receptor, mu 1 1 behavior|negative regulation of cell proliferation|sensory perception endoplasmic reticulum|Golgi apparatus|integral to plasma membrane mu-opioid receptor activity|protein binding breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|ovary(1)|skin(3)|upper_aerodigestive_tract(1) 33 Ovarian(120;0.196) OV - Ovarian serous cystadenocarcinoma(155;9.26e-11)|BRCA - Breast invasive adenocarcinoma(81;0.0154) Alfentanil(DB00802)|Anileridine(DB00913)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dezocine(DB01209)|Diphenoxylate(DB01081)|Fentanyl(DB00813)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Levallorphan(DB00504)|Levomethadyl Acetate(DB01227)|Levorphanol(DB00854)|Loperamide(DB00836)|Methadone(DB00333)|Methadyl Acetate(DB01433)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tramadol(DB00193) TCAGTACCATGGACAGCAGCG 0.647000 OREG0005730 type=TRANSCRIPTION FACTOR BINDING SITE|Gene=OPRM1|TFbs=REST|Dataset=NRSF/REST ChIPSeq sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS) 6 20 0 0 1 0 0 DNAH9 1770 broad.mit.edu 37 17 11622730 11622730 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:11622730G>A ENST00000262442.3 + 27 5700 c.5632G>A c.(5632-5634)Gag>Aag p.E1878K DNAH9_ENST00000454412.2_Missense_Mutation_p.E1878K NM_001372.3 NP_001363.2 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 1878 AAA 1 (By similarity). cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity p.E1878K(1) NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4) 290 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) AGGCAAGACCGAGACCACCAA 0.612000 31 68 0 0 1 0 0 AOC2 314 broad.mit.edu 37 17 40997342 40997342 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:40997342C>T ENST00000253799.3 + 1 726 c.699C>T c.(697-699)ttC>ttT p.F233F AOC2_ENST00000452774.2_Silent_p.F233F NM_009590.2 NP_033720.2 O75106 AOC2_HUMAN amine oxidase, copper containing 2 (retina-specific) 233 catecholamine metabolic process|visual perception cytoplasm|plasma membrane aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|electron carrier activity|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(14)|ovary(4)|skin(2) 30 Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.156) TTGGTCTTTTCCTTCACCCCG 0.617000 61 94 0 0 1 0 0 BAGE2 85319 broad.mit.edu 37 21 11038995 11038995 + RNA SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr21:11038995C>T ENST00000470054.1 - 0 1208 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) GATTTGCCTCCTTGGTATGAA 0.393000 42 691 0 0 1 0 0 RGPD3 653489 broad.mit.edu 37 2 107021680 107021680 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:107021680C>T ENST00000409886.3 - 23 5359 c.5272G>A c.(5272-5274)Gaa>Aaa p.E1758K NM_001144013.1 NP_001137485.1 A6NKT7 RGPD3_HUMAN RANBP2-like and GRIP domain containing 3 1758 intracellular transport binding breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2) 71 GCATTTTATTCCTCACCTTTG 0.308000 9 53 0 0 1 0 0 SCN5A 6331 broad.mit.edu 37 3 38648289 38648289 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:38648289C>T ENST00000413689.1 - 9 1204 c.1011G>A c.(1009-1011)gaG>gaA p.E337E SCN5A_ENST00000443581.1_Silent_p.E337E|SCN5A_ENST00000451551.2_Silent_p.E337E|SCN5A_ENST00000414099.2_Silent_p.E337E|SCN5A_ENST00000423572.2_Silent_p.E337E|SCN5A_ENST00000450102.2_Silent_p.E337E|SCN5A_ENST00000449557.2_Silent_p.E337E|SCN5A_ENST00000333535.4_Silent_p.E337E|SCN5A_ENST00000455624.2_Silent_p.E337E|SCN5A_ENST00000425664.1_Silent_p.E337E NM_001099404.1|NM_001160160.1 NP_001092874.1|NP_001153632.1 Q14524 SCN5A_HUMAN sodium channel, voltage-gated, type V, alpha subunit 337 blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction sarcolemma|voltage-gated sodium channel complex protein binding|voltage-gated sodium channel activity NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4) 107 Medulloblastoma(35;0.163) KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1) Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661) ACCGGTAGCCCTCCGGACATG 0.612000 11 105 0 0 1 0 0 SRPX2 27286 broad.mit.edu 37 X 99922318 99922318 + Nonsense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chrX:99922318C>T ENST00000373004.3 + 9 1437 c.1009C>T c.(1009-1011)Caa>Taa p.Q337* NM_014467.2 NP_055282.1 O60687 SRPX2_HUMAN sushi-repeat containing protein, X-linked 2 337 angiogenesis|cell motility|cell-cell adhesion|positive regulation of cell migration involved in sprouting angiogenesis|regulation of phosphorylation cytoplasm|extracellular region receptor binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(2)|upper_aerodigestive_tract(1) 19 TCTCTTGGATCAATTCTATGA 0.483000 42 14 0 0 1 0 0 GIMAP1 170575 broad.mit.edu 37 7 150417312 150417312 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:150417312G>A ENST00000307194.5 + 3 360 c.220G>A c.(220-222)Gac>Aac p.D74N NM_130759.3 NP_570115.1 GTPase, IMAP family member 1 NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 28 OV - Ovarian serous cystadenocarcinoma(82;0.0145) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) CCGCAGGTGGGACAAGTGCCA 0.622000 46 124 0 0 1 0 0 C4orf21 55345 broad.mit.edu 37 4 113461188 113461188 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:113461188C>T ENST00000505019.1 - 27 6128 c.6003G>A c.(6001-6003)aaG>aaA p.K2001K RP11-402J6.1_ENST00000504009.1_RNA NM_018392.4 NP_060862.3 Q86YA3 CD021_HUMAN chromosome 4 open reading frame 21 0 breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 Ovarian(17;0.156) OV - Ovarian serous cystadenocarcinoma(123;0.000676) TAATGATCTCCTTTTCAGCTC 0.398000 4 12 0 0 1 0 0 HRH1 3269 broad.mit.edu 37 3 11301600 11301600 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:11301600G>A ENST00000397056.1 + 3 1068 c.877G>A c.(877-879)Gat>Aat p.D293N HRH1_ENST00000431010.2_Missense_Mutation_p.D293N|HRH1_ENST00000438284.2_Missense_Mutation_p.D293N NM_000861.3|NM_001098211.1 NP_000852.1|NP_001091681.1 P35367 HRH1_HUMAN histamine receptor H1 293 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|inflammatory response cytoplasm|integral to plasma membrane|nucleus histamine receptor activity autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 25 Aceprometazine(DB01615)|Astemizole(DB00637)|Azatadine(DB00719)|Azelastine(DB00972)|Benzquinamide(DB00767)|Bepotastine(DB04890)|Bromodiphenhydramine(DB01237)|Brompheniramine(DB00835)|Buclizine(DB00354)|Carbinoxamine(DB00748)|Cetirizine(DB00341)|Chlophedianol(DB04837)|Chlorpheniramine(DB01114)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clemastine(DB00283)|Clozapine(DB00363)|Cyclizine(DB01176)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexbrompheniramine(DB00405)|Dimenhydrinate(DB00985)|Diphenhydramine(DB01075)|Diphenylpyraline(DB01146)|Doxepin(DB01142)|Doxylamine(DB00366)|Emedastine(DB01084)|Epinastine(DB00751)|Fexofenadine(DB00950)|Flunarizine(DB04841)|Histamine Phosphate(DB00667)|Hydroxyzine(DB00557)|Ketotifen(DB00920)|Levocabastine(DB01106)|Loratadine(DB00455)|Maprotiline(DB00934)|Meclizine(DB00737)|Mequitazine(DB01071)|Methdilazine(DB00902)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Nedocromil(DB00716)|Olanzapine(DB00334)|Olopatadine(DB00768)|Orphenadrine(DB01173)|Pemirolast(DB00885)|Phenindamine(DB01619)|Pheniramine(DB01620)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Terfenadine(DB00342)|Thiethylperazine(DB00372)|Trazodone(DB00656)|Trimeprazine(DB01246)|Tripelennamine(DB00792)|Triprolidine(DB00427)|Ziprasidone(DB00246) CAGCCAAGAGGATGATAGAGA 0.498000 39 74 0 0 1 0 0 COL11A2 1302 broad.mit.edu 37 6 33147514 33147514 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:33147514C>T ENST00000341947.2 - 13 1655 c.1428G>A c.(1426-1428)gcG>gcA p.A476A COL11A2_ENST00000361917.1_Silent_p.A369A|COL11A2_ENST00000374714.1_Silent_p.A450A|COL11A2_ENST00000374712.1_Silent_p.A395A|COL11A2_ENST00000374713.1_Silent_p.A429A|COL11A2_ENST00000395197.1_Silent_p.A416A|COL11A2_ENST00000357486.1_Silent_p.A455A|COL11A2_ENST00000374708.4_Silent_p.A390A NM_080680.2 NP_542411.2 P13942 COBA2_HUMAN collagen, type XI, alpha 2 476 Nonhelical region. cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development collagen type XI extracellular matrix structural constituent conferring tensile strength|protein binding, bridging biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6) 68 GCTGCAGGATCGCCTGGGCCT 0.657000 26 122 0 0 1 0 0 SIRPG 55423 broad.mit.edu 37 20 1617026 1617026 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr20:1617026C>T ENST00000381580.1 - 3 636 c.457G>A c.(457-459)Ggg>Agg p.G153R SIRPG_ENST00000381583.2_Missense_Mutation_p.G186R|SIRPG_ENST00000216927.4_Missense_Mutation_p.G186R|RP11-77C3.3_ENST00000456177.1_RNA|SIRPG_ENST00000344103.4_Intron|SIRPG_ENST00000303415.3_Missense_Mutation_p.G186R Q9P1W8 SIRPG_HUMAN signal-regulatory protein gamma 186 Ig-like C1-type 1. blood coagulation|cell adhesion|cell junction assembly|cell-cell signaling|intracellular signal transduction|leukocyte migration|negative regulation of cell proliferation|positive regulation of cell proliferation|positive regulation of cell-cell adhesion|positive regulation of T cell activation integral to membrane|intracellular|plasma membrane protein binding breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|stomach(1) 27 AGCTCATTCCCATTTTTGAAC 0.577000 40 109 0 0 1 0 0 KIR2DL3 3804 broad.mit.edu 37 19 55253677 55253677 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:55253677C>T ENST00000342376.3 + 3 353 c.322C>T c.(322-324)Ccc>Tcc p.P108S CTB-61M7.1_ENST00000400864.3_RNA|KIR2DL4_ENST00000396284.2_Intron|KIR2DL3_ENST00000434419.2_Missense_Mutation_p.P108S|KIR3DL1_ENST00000402254.2_Intron|KIR3DL1_ENST00000538269.1_Intron|KIR3DL1_ENST00000541392.1_Intron NM_015868.2 NP_056952.2 killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 3 breast(1)|cervix(1)|large_intestine(1)|lung(11)|ovary(3)|pancreas(1)|skin(2)|urinary_tract(1) 21 GBM - Glioblastoma multiforme(193;0.0192) TACTCACTCCCCCTATCAGTT 0.527000 57 155 0 0 1 0 0 PRPF19 27339 broad.mit.edu 37 11 60658707 60658707 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:60658707G>A ENST00000227524.4 - 16 1651 c.1446C>T c.(1444-1446)gcC>gcT p.A482A NM_014502.4 NP_055317.1 Q9UMS4 PRP19_HUMAN pre-mRNA processing factor 19 482 DNA repair|protein polyubiquitination|spliceosome assembly catalytic step 2 spliceosome|nuclear speck|spindle|ubiquitin ligase complex DNA binding|identical protein binding|ubiquitin-ubiquitin ligase activity haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|urinary_tract(1) 22 GATGCCCGAAGGCCACCCCTG 0.537000 20 51 0 0 1 0 0 DES 1674 broad.mit.edu 37 2 220286272 220286272 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:220286272G>A ENST00000373960.3 + 6 1320 c.1234G>A c.(1234-1236)Gag>Aag p.E412K NM_001927.3 NP_001918.3 P17661 DESM_HUMAN desmin 412 Coil 2B.|Rod. cytoskeleton organization|muscle filament sliding|regulation of heart contraction cytosol|Z disc protein binding|structural constituent of cytoskeleton breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(10)|skin(1) 18 Renal(207;0.0183) Epithelial(149;5.25e-07)|all cancers(144;0.000103)|Lung(261;0.00533)|LUSC - Lung squamous cell carcinoma(224;0.008) GCTGGAGGGAGAGGAGAGCCG 0.627000 9 94 0 0 1 0 0 PPFIA2 8499 broad.mit.edu 37 12 81762936 81762936 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:81762936C>T ENST00000550584.2 - 11 1599 c.1304G>A c.(1303-1305)aGa>aAa p.R435K PPFIA2_ENST00000548586.1_Missense_Mutation_p.R435K|PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000407050.4_Missense_Mutation_p.R361K|PPFIA2_ENST00000549325.1_Missense_Mutation_p.R417K|PPFIA2_ENST00000550359.2_Missense_Mutation_p.R282K|PPFIA2_ENST00000541017.1_5'UTR|PPFIA2_ENST00000552948.1_Missense_Mutation_p.R435K|PPFIA2_ENST00000549396.1_Missense_Mutation_p.R435K|PPFIA2_ENST00000443686.3_Missense_Mutation_p.R336K|PPFIA2_ENST00000333447.7_Missense_Mutation_p.R417K|PPFIA2_ENST00000541570.2_Missense_Mutation_p.R2K NM_001220473.1 NP_001207402.1 B7Z663 B7Z663_HUMAN protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2 361 NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5) 85 CTCTAAATGTCTCATACGTTC 0.328000 9 31 0 0 1 0 0 SLC30A4 7782 broad.mit.edu 37 15 45814219 45814219 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr15:45814219C>T ENST00000261867.4 - 2 648 c.334G>A c.(334-336)Gcc>Acc p.A112T SLC30A4_ENST00000559667.1_5'UTR|HMGN2P46_ENST00000409454.1_RNA NM_013309.4 NP_037441.2 O14863 ZNT4_HUMAN solute carrier family 30 (zinc transporter), member 4 112 regulation of sequestering of zinc ion|response to toxin endosome membrane|integral to membrane|late endosome zinc ion transmembrane transporter activity endometrium(3)|large_intestine(2)|lung(8)|prostate(1)|stomach(1) 15 Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027) all cancers(107;1.58e-16)|GBM - Glioblastoma multiforme(94;2.15e-06) GTCAACCTGGCTTTCACCTTT 0.463000 50 70 0 0 1 0 0 SLC5A1 6523 broad.mit.edu 37 22 32480561 32480561 + Missense_Mutation SNP G G A rs143443198 TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr22:32480561G>A ENST00000266088.4 + 8 1050 c.800G>A c.(799-801)cGa>cAa p.R267Q SLC5A1_ENST00000543737.1_Missense_Mutation_p.R140Q NM_000343.3 NP_000334.1 P13866 SC5A1_HUMAN solute carrier family 5 (sodium/glucose cotransporter), member 1 267 carbohydrate metabolic process integral to plasma membrane glucose:sodium symporter activity|protein binding NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1) 37 CACATCTTCCGAGATCCCCTC 0.512000 30 70 0 0 1 0 0 PGD 5226 broad.mit.edu 37 1 10479547 10479547 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:10479547C>T ENST00000538557.1 + 12 1488 c.1244C>T c.(1243-1245)tCc>tTc p.S415F PGD_ENST00000270776.8_Missense_Mutation_p.S428F|PGD_ENST00000541529.1_Missense_Mutation_p.S406F|PGD_ENST00000498356.1_3'UTR P52209 6PGD_HUMAN phosphogluconate dehydrogenase 428 pentose-phosphate shunt, oxidative branch cytosol NADP binding|phosphogluconate dehydrogenase (decarboxylating) activity|protein binding NS(1)|breast(1)|cervix(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1) 14 Ovarian(185;0.203) all_lung(284;1.31e-05)|Lung NSC(185;2.19e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.14e-07)|COAD - Colon adenocarcinoma(227;7.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000294)|Kidney(185;0.000728)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(132;0.00832)|READ - Rectum adenocarcinoma(331;0.0487) ACTGCCCTCTCCTTCTATGAC 0.617000 10 174 0 0 1 0 0 XK 7504 broad.mit.edu 37 X 37587379 37587379 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chrX:37587379C>T ENST00000378616.3 + 3 1202 c.999C>T c.(997-999)ctC>ctT p.L333L TM4SF2_ENST00000465127.1_Intron NM_021083.2 NP_066569.1 P51811 XK_HUMAN X-linked Kx blood group (McLeod syndrome) 333 amino acid transport integral to membrane protein binding|transporter activity breast(1)|endometrium(4)|large_intestine(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1) 15 all_lung(315;0.175) TCCTCCTCCTCCTGTGGTATC 0.463000 53 22 0 0 1 0 0 RBP3 5949 broad.mit.edu 37 10 48389216 48389216 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:48389216G>A ENST00000224600.4 - 1 1775 c.1662C>T c.(1660-1662)ttC>ttT p.F554F NM_002900.2 NP_002891.1 P10745 RET3_HUMAN retinol binding protein 3, interstitial 554 4 X approximate tandem repeats. lipid metabolic process|proteolysis|transport|visual perception interphotoreceptor matrix retinal binding|serine-type peptidase activity central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 59 Vitamin A(DB00162) ACTGCATAAGGAAGGCGAACT 0.672000 25 80 0 0 1 0 0 MYO7A 4647 broad.mit.edu 37 11 76892447 76892447 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:76892447C>T ENST00000409709.3 + 23 2988 c.2716C>T c.(2716-2718)Cgt>Tgt p.R906C MYO7A_ENST00000409619.2_Missense_Mutation_p.R895C|MYO7A_ENST00000409893.1_Missense_Mutation_p.R906C|MYO7A_ENST00000458637.2_Missense_Mutation_p.R906C NM_000260.3 NP_000251.3 Q13402 MYO7A_HUMAN myosin VIIA 906 actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse actin binding|ATP binding|calmodulin binding|microfilament motor activity NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 CCAGCTGGCTCGTGAGGACGC 0.652000 3 11 0 0 1 0 0 UHRF1BP1 54887 broad.mit.edu 37 6 34839394 34839394 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:34839394G>A ENST00000192788.5 + 19 4186 c.4015G>A c.(4015-4017)Ggc>Agc p.G1339S UHRF1BP1_ENST00000452449.2_Missense_Mutation_p.G1339S NM_017754.3 NP_060224.3 Q6BDS2 URFB1_HUMAN UHRF1 binding protein 1 1339 breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2) 54 AACATCTCCAGGCCCCATCCC 0.527000 88 97 0 0 1 0 0 MRGPRX2 117194 broad.mit.edu 37 11 19077901 19077901 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:19077901C>T ENST00000329773.2 - 2 136 c.49G>A c.(49-51)Gga>Aga p.G17R NM_054030.2 NP_473371.1 Q96LB1 MRGX2_HUMAN MAS-related GPR, member X2 17 sensory perception of pain|sleep plasma membrane G-protein coupled receptor activity|neuropeptide binding NS(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1) 15 TGGTCATTTCCATTCACTGTT 0.527000 13 262 0 0 1 0 0 GABRG1 2565 broad.mit.edu 37 4 46099336 46099336 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:46099336C>T ENST00000295452.4 - 2 302 c.135G>A c.(133-135)gaG>gaA p.E45E NM_173536.3 NP_775807.2 Q8N1C3 GBRG1_HUMAN gamma-aminobutyric acid (GABA) A receptor, gamma 1 45 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 76 Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23) CCGTTAAATCCTCATCATCTT 0.333000 9 171 0 0 1 0 0 NRSN1 140767 broad.mit.edu 37 6 24134674 24134674 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:24134674C>T ENST00000378491.4 + 3 420 c.119C>T c.(118-120)tCa>tTa p.S40L NRSN1_ENST00000378478.1_Missense_Mutation_p.S40L|NRSN1_ENST00000378475.1_Missense_Mutation_p.S40L NM_080723.4 NP_542454.3 Q8IZ57 NRSN1_HUMAN neurensin 1 40 nervous system development growth cone|integral to membrane|neuronal cell body|transport vesicle breast(1)|endometrium(2)|large_intestine(2)|lung(15)|skin(1)|upper_aerodigestive_tract(1) 22 TGTACAGCCTCAATTTGGGAG 0.512000 31 69 0 0 1 0 0 ANKEF1 63926 broad.mit.edu 37 20 10023936 10023936 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr20:10023936G>A ENST00000378380.3 + 3 842 c.513G>A c.(511-513)ttG>ttA p.L171L SNAP25-AS1_ENST00000603542.1_RNA|SNAP25-AS1_ENST00000421143.2_RNA|ANKEF1_ENST00000378392.1_Silent_p.L171L|ANKEF1_ENST00000488991.1_3'UTR NM_198798.1 NP_942093.1 ankyrin repeat and EF-hand domain containing 1 TGACATTTTTGGAAAAAGGAG 0.343000 38 78 0 0 1 0 0 OR2T33 391195 broad.mit.edu 37 1 248436657 248436657 + Missense_Mutation SNP C C T rs146681556 byFrequency TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:248436657C>T ENST00000318021.2 - 1 481 c.460G>A c.(460-462)Ggg>Agg p.G154R NM_001004695.1 NP_001004695.1 Q8NG76 O2T33_HUMAN olfactory receptor, family 2, subfamily T, member 33 154 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4) 67 all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0245) TGCAGGAGCCCGTCAGCTGCA 0.587000 17 195 0 0 1 0 0 GALR2 8811 broad.mit.edu 37 17 74073089 74073089 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:74073089C>T ENST00000329003.3 + 2 831 c.741C>T c.(739-741)ctC>ctT p.L247L NM_003857.2 NP_003848.1 O43603 GALR2_HUMAN galanin receptor 2 247 digestion|elevation of cytosolic calcium ion concentration|feeding behavior|learning or memory|muscle contraction integral to membrane|plasma membrane galanin receptor activity cervix(1)|lung(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 8 TCTTCTGCCTCTGCTGGATGC 0.692000 31 78 0 0 1 0 0 TRPM6 140803 broad.mit.edu 37 9 77354841 77354841 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:77354841C>T ENST00000451710.3 - 33 5534 c.5297G>A c.(5296-5298)gGg>gAg p.G1766E TRPM6_ENST00000376871.3_Missense_Mutation_p.G599E|TRPM6_ENST00000361255.3_Missense_Mutation_p.G1757E|TRPM6_ENST00000376872.3_Missense_Mutation_p.G717E|TRPM6_ENST00000360774.1_Missense_Mutation_p.G1762E|TRPM6_ENST00000449912.2_Missense_Mutation_p.G1757E|TRPM6_ENST00000376864.4_Missense_Mutation_p.G1766E Q9BX84 TRPM6_HUMAN transient receptor potential cation channel, subfamily M, member 6 1762 Alpha-type protein kinase. response to toxin integral to membrane ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 126 TGCCGCTCTCCCACGCTGAGA 0.498000 31 60 0 0 1 0 0 TFAP2D 83741 broad.mit.edu 37 6 50683171 50683171 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:50683171G>A ENST00000008391.3 + 2 610 c.382G>A c.(382-384)Gac>Aac p.D128N NM_172238.3 NP_758438.2 Q7Z6R9 AP2D_HUMAN transcription factor AP-2 delta (activating enhancer binding protein 2 delta) 128 DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(26)|ovary(6)|pancreas(1)|prostate(5)|stomach(1) 60 Lung NSC(77;0.0334) GTCCTGCCTGGACGAGCAGAG 0.602000 43 195 0 0 1 0 0 WDR16 146845 broad.mit.edu 37 17 9515626 9515626 + Splice_Site SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:9515626G>A ENST00000352665.5 + 8 924 c.854_splice c.e8-1 p.K285_splice WDR16_ENST00000396219.3_Splice_Site_p.K217_splice|WDR16_ENST00000299764.5_Splice_Site_p.K295_splice NM_145054.4 NP_659491.4 Q8N1V2 WDR16_HUMAN WD repeat domain 16 285 cytoplasm|intracellular membrane-bounded organelle protein binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 31 CTCCCTAAAGGAAGATTCAGT 0.413000 32 83 0 0 1 0 0 SCN8A 6334 broad.mit.edu 37 12 52156341 52156341 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:52156341C>T ENST00000354534.5 + 15 2603 c.2425C>T c.(2425-2427)Ccc>Tcc p.P809S SCN8A_ENST00000550891.1_Missense_Mutation_p.P809S|SCN8A_ENST00000545061.1_Missense_Mutation_p.P809S NM_001177984.2|NM_014191.3 NP_001171455.1|NP_055006.1 Q9UQD0 SCN8A_HUMAN sodium channel, voltage gated, type VIII, alpha subunit 809 axon guidance|myelination|peripheral nervous system development cytoplasmic membrane-bounded vesicle|node of Ranvier ATP binding|voltage-gated sodium channel activity breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 55 BRCA - Breast invasive adenocarcinoma(357;0.181) Lamotrigine(DB00555) AGCCATGGATCCCTACTATTA 0.413000 76 161 0 0 1 0 0 GPR179 440435 broad.mit.edu 37 17 36487203 36487203 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:36487203G>A ENST00000342292.4 - 11 2269 c.2249C>T c.(2248-2250)tCc>tTc p.S750F NM_001004334.2 NP_001004334.2 Q6PRD1 GP179_HUMAN G protein-coupled receptor 179 750 integral to membrane|plasma membrane G-protein coupled receptor activity breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 60 Breast(7;2.97e-12) Breast(25;0.0101)|Ovarian(249;0.15) CCGGCGGCGGGAGGAGCCGGG 0.701000 10 18 0 0 1 0 0 LRP5 4041 broad.mit.edu 37 11 68174125 68174125 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:68174125C>T ENST00000294304.7 + 9 2041 c.1935C>T c.(1933-1935)gcC>gcT p.A645A NM_002335.2 NP_002326.2 O75197 LRP5_HUMAN low density lipoprotein receptor-related protein 5 645 Beta-propeller 3. adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex protein binding|receptor activity autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 TGCCTGAGGCCTTCTTGGTCT 0.622000 33 44 0 0 1 0 0 UGT2B4 7363 broad.mit.edu 37 4 70352336 70352336 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:70352336C>T ENST00000305107.6 - 4 1127 c.1081G>A c.(1081-1083)Gat>Aat p.D361N UGT2B4_ENST00000512583.1_Missense_Mutation_p.D361N|UGT2B4_ENST00000381096.3_Missense_Mutation_p.D225N|UGT2B4_ENST00000506580.1_5'UTR NM_021139.2 NP_066962.2 P06133 UD2B4_HUMAN UDP glucuronosyltransferase 2 family, polypeptide B4 361 estrogen catabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 47 CCAAGAAGATCATTCTGGGGT 0.338000 41 105 0 0 1 0 0 CTTNBP2 83992 broad.mit.edu 37 7 117368300 117368300 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:117368300G>A ENST00000160373.3 - 17 3989 c.3898C>T c.(3898-3900)Ccc>Tcc p.P1300S NM_033427.2 NP_219499.1 Q8WZ74 CTTB2_HUMAN cortactin binding protein 2 1300 breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 83 Lung NSC(10;0.0018)|all_lung(10;0.002) LUSC - Lung squamous cell carcinoma(290;0.133) GGATCGCAGGGGGAGGGCGCC 0.517000 14 282 0 0 1 0 0 PPARD 5467 broad.mit.edu 37 6 35393718 35393718 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:35393718C>T ENST00000311565.4 + 9 1537 c.1188C>T c.(1186-1188)ttC>ttT p.F396F PPARD_ENST00000360694.3_Silent_p.F396F|PPARD_ENST00000540939.1_Silent_p.F293F|PPARD_ENST00000448077.2_Silent_p.F357F|PPARD_ENST00000418635.2_Silent_p.F298F NM_001171818.1 NP_001165289.1 Q03181 PPARD_HUMAN peroxisome proliferator-activated receptor delta 396 Ligand-binding. apoptosis|axon ensheathment|cholesterol metabolic process|decidualization|embryo implantation|fatty acid beta-oxidation|fatty acid transport|generation of precursor metabolites and energy|glucose metabolic process|glucose transport|negative regulation of transcription from RNA polymerase II promoter|positive regulation of fat cell differentiation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm drug binding|linoleic acid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(4)|liver(2)|lung(9)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 23 Icosapent(DB00159)|Sulindac(DB00605)|Treprostinil(DB00374) AGTACCTCTTCCCCAAGCTGC 0.607000 33 76 0 0 1 0 0 INSM1 3642 broad.mit.edu 37 20 20349230 20349230 + Missense_Mutation SNP A A C TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr20:20349230A>C ENST00000310227.1 + 1 466 c.319A>C c.(319-321)Agc>Cgc p.S107R NM_002196.2 NP_002187.1 Q01101 INSM1_HUMAN insulinoma-associated 1 107 Ala/Gly/Pro-rich. endocrine pancreas development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding liver(1)|lung(3)|ovary(1)|prostate(1) 6 READ - Rectum adenocarcinoma(2;0.0649) GCGGCCCGTGAGCCGCGAGCA 0.746000 5 6 0 0 1 0 0 ABCA3 21 broad.mit.edu 37 16 2327618 2327618 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr16:2327618G>A ENST00000301732.5 - 32 5663 c.4963C>T c.(4963-4965)Cgt>Tgt p.R1655C ABCA3_ENST00000382381.3_Missense_Mutation_p.R1597C NM_001089.2 NP_001080.2 Q99758 ABCA3_HUMAN ATP-binding cassette, sub-family A (ABC1), member 3 1655 response to drug integral to membrane|lamellar body|membrane fraction|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1) 70 Ovarian(90;0.17) CTGAGGTCACGGCCCGGCAGG 0.657000 11 34 0 0 1 0 0 DCDC1 341019 broad.mit.edu 37 11 31128396 31128396 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:31128396G>A ENST00000597505.1 - 11 1698 c.1699C>T c.(1699-1701)Ctt>Ttt p.L567F DCDC1_ENST00000437348.1_5'UTR P59894 DCDC1_HUMAN doublecortin domain containing 1 227 intracellular signal transduction central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1) 31 Lung SC(675;0.225) TTCAGCGAAAGTGGATTCTTA 0.428000 OREG0020856 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 26 48 0 0 1 0 0 ERN2 10595 broad.mit.edu 37 16 23714024 23714024 + Splice_Site SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr16:23714024C>T ENST00000256797.4 - 9 1167 c.e9-1 ERN2_ENST00000457008.2_Splice_Site NM_033266.3 NP_150296.3 Q76MJ5 ERN2_HUMAN endoplasmic reticulum to nucleus signaling 2 apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent endoplasmic reticulum membrane|integral to membrane ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity large_intestine(2)|lung(2)|ovary(2) 6 GBM - Glioblastoma multiforme(48;0.0156) CAGCGTCATTCTAGTGGGAGA 0.458000 25 60 0 0 1 0 0 C8B 732 broad.mit.edu 37 1 57417853 57417853 + Splice_Site SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:57417853C>T ENST00000543257.1 - 6 944 c.377_splice c.e6-1 p.G126_splice C8B_ENST00000535057.1_Splice_Site_p.G116_splice|C8B_ENST00000371237.4_Splice_Site_p.G178_splice NM_001278543.1 NP_001265472.1 P07358 CO8B_HUMAN complement component 8, beta polypeptide 178 LDL-receptor class A. complement activation, alternative pathway|complement activation, classical pathway|cytolysis membrane attack complex breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1) 52 ACAAATTTATCCTGTGAGGAA 0.448000 60 116 0 0 1 0 0 GPR139 124274 broad.mit.edu 37 16 20043822 20043822 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr16:20043822G>A ENST00000570682.1 - 2 597 c.297C>T c.(295-297)gtC>gtT p.V99V NM_001002911.2 NP_001002911.1 Q6DWJ6 GP139_HUMAN G protein-coupled receptor 139 99 integral to membrane|plasma membrane autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1) 30 TCTTGTCGGGGACCTGAGGCA 0.473000 25 54 0 0 1 0 0 SPATA31D5P 347127 broad.mit.edu 37 9 84534422 84534422 + RNA SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:84534422C>T ENST00000527857.1 + 0 4444 NR_026851.1 CAGAGCCTTTCCAGGGCTATC 0.498000 10 27 0 0 1 0 0 OR5K4 403278 broad.mit.edu 37 3 98073220 98073220 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:98073220C>T ENST00000354924.2 + 1 523 c.523C>T c.(523-525)Cac>Tac p.H175Y RP11-325B23.2_ENST00000508616.1_lincRNA NM_001005517.1 NP_001005517.1 A6NMS3 OR5K4_HUMAN olfactory receptor, family 5, subfamily K, member 4 175 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1) 21 TAATAAAATTCACCACTTTTT 0.358000 39 127 0 0 1 0 0 KIF26B 55083 broad.mit.edu 37 1 245530546 245530546 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:245530546C>T ENST00000407071.2 + 3 1316 c.876C>T c.(874-876)ctC>ctT p.L292L KIF26B_ENST00000479506.1_3'UTR NM_018012.3 NP_060482.2 Q2KJY2 KI26B_HUMAN kinesin family member 26B 292 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 51 all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127) OV - Ovarian serous cystadenocarcinoma(106;0.022) AGGTCAGCCTCCAGATGGCCA 0.607000 9 17 0 0 1 0 0 PGK2 5232 broad.mit.edu 37 6 49753752 49753752 + Nonsense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:49753752C>T ENST00000304801.3 - 1 1301 c.1149G>A c.(1147-1149)tgG>tgA p.W383* NM_138733.4 NP_620061.2 P07205 PGK2_HUMAN phosphoglycerate kinase 2 383 glycolysis cytosol ATP binding|phosphoglycerate kinase activity autonomic_ganglia(1)|endometrium(3)|large_intestine(12)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 47 Lung NSC(77;0.0402) CTTCAGTGTTCCATTTGGCAC 0.507000 55 242 0 0 1 0 0 TRPC6 7225 broad.mit.edu 37 11 101324402 101324402 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:101324402C>T ENST00000344327.3 - 12 3047 c.2623G>A c.(2623-2625)Gag>Aag p.E875K TRPC6_ENST00000532133.1_Missense_Mutation_p.E797K|TRPC6_ENST00000348423.4_Missense_Mutation_p.E759K|TRPC6_ENST00000360497.4_Missense_Mutation_p.E820K NM_004621.5 NP_004612.2 Q9Y210 TRPC6_HUMAN transient receptor potential cation channel, subfamily C, member 6 875 axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity integral to membrane|plasma membrane protein binding autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 55 Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162) BRCA - Breast invasive adenocarcinoma(274;0.0442) TCATCACTCTCCTTATCTATC 0.458000 5 90 0 0 1 0 0 CCDC153 283152 broad.mit.edu 37 11 119061126 119061126 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:119061126G>A ENST00000503566.2 - 6 515 c.516C>T c.(514-516)gcC>gcT p.A172A CCDC153_ENST00000415318.1_Silent_p.A172A Q494R4 CC153_HUMAN coiled-coil domain containing 153 172 lung(3)|stomach(1) 4 GCTGCTTGATGGCTCTCAGCT 0.577000 11 96 0 0 1 0 0 ANKRD30A 91074 broad.mit.edu 37 10 37421222 37421222 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:37421222G>A ENST00000374660.1 + 4 496 c.397G>A c.(397-399)Gaa>Aaa p.E133K ANKRD30A_ENST00000361713.1_Missense_Mutation_p.E133K|ANKRD30A_ENST00000602533.1_Missense_Mutation_p.E133K Q9BXX3 AN30A_HUMAN ankyrin repeat domain 30A 189 nucleus DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3) 158 GCAAATTGTGGAATTTTTGCT 0.284000 26 79 0 0 1 0 0 FLG 2312 broad.mit.edu 37 1 152280680 152280680 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:152280680C>T ENST00000368799.1 - 3 6717 c.6682G>A c.(6682-6684)Gga>Aga p.G2228R FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 2228 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GATGATTGTCCCTGGCCCACC 0.572000 Ichthyosis 144 456 0 0 1 0 0 NRG1 3084 broad.mit.edu 37 8 32621451 32621451 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:32621451G>A ENST00000338921.4 + 13 1995 c.1478G>A c.(1477-1479)aGg>aAg p.R493K NRG1_ENST00000341377.5_3'UTR|NRG1_ENST00000521670.1_3'UTR|NRG1_ENST00000519301.1_Missense_Mutation_p.R435K|NRG1_ENST00000539990.1_Missense_Mutation_p.R328K|NRG1_ENST00000356819.4_Missense_Mutation_p.R490K|NRG1_ENST00000287842.3_Missense_Mutation_p.R482K|NRG1_ENST00000287845.5_Missense_Mutation_p.R456K|NRG1_ENST00000405005.2_Missense_Mutation_p.R485K|NRG1_ENST00000287840.5_Missense_Mutation_p.R485K Q02297 NRG1_HUMAN neuregulin 1 485 activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|Notch signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane cytokine activity|ErbB-3 class receptor binding|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1) 39 Breast(100;0.203) KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943) ACACCACCAAGGCTGCGGGAG 0.577000 43 82 0 0 1 0 0 DCAF4L2 138009 broad.mit.edu 37 8 88885470 88885470 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:88885470G>A ENST00000319675.3 - 1 826 c.730C>T c.(730-732)Cgc>Tgc p.R244C NM_152418.3 NP_689631.1 Q8NA75 DC4L2_HUMAN DDB1 and CUL4 associated factor 4-like 2 244 breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 83 TCCCCAGAGCGACAGCCATTA 0.527000 70 118 0 0 1 0 0 MIR519D 574480 broad.mit.edu 37 19 54216624 54216624 + RNA SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:54216624G>A ENST00000385246.1 + 0 24 NR_030202.1 CCCTCCAAAGGGAAGCGCTTT 0.428000 8 221 0 0 1 0 0 LNP1 348801 broad.mit.edu 37 3 100170748 100170748 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:100170748C>T ENST00000383693.3 + 3 1622 c.342C>T c.(340-342)tcC>tcT p.S114S LNP1_ENST00000489752.1_Silent_p.S127S NM_001085451.1 NP_001078920.1 A1A4G5 LNP1_HUMAN leukemia NUP98 fusion partner 1 114 cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1) 6 TTTCAGAGTCCTTTGAACGGC 0.413000 37 70 0 0 1 0 0 HTT 3064 broad.mit.edu 37 4 3221940 3221940 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:3221940G>A ENST00000355072.5 + 53 7419 c.7274G>A c.(7273-7275)gGa>gAa p.G2425E NM_002111.6 NP_002102.4 P42858 HD_HUMAN huntingtin 2425 establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 87 all_epithelial(65;0.18) UCEC - Uterine corpus endometrioid carcinoma (64;0.187) CCCAAACCGGGAGGGGATTTT 0.498000 13 172 0 0 1 0 0 LRIG1 26018 broad.mit.edu 37 3 66432741 66432741 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:66432741C>T ENST00000383703.3 - 17 3107 c.2504G>A c.(2503-2505)aGg>aAg p.R835K SLC25A26_ENST00000536651.1_Intron|LRIG1_ENST00000496559.2_5'UTR|LRIG1_ENST00000273261.3_Missense_Mutation_p.R858K Q96JA1 LRIG1_HUMAN leucine-rich repeats and immunoglobulin-like domains 1 858 integral to membrane NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1) 42 Lung NSC(201;0.0101) BRCA - Breast invasive adenocarcinoma(55;0.00047) ACCCTCGGTCCTGACCACGGT 0.547000 75 126 0 0 1 0 0 CHRNA4 1137 broad.mit.edu 37 20 61978163 61978163 + Nonsense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr20:61978163C>T ENST00000370263.4 - 6 2032 c.1811G>A c.(1810-1812)tGg>tAg p.W604* CHRNA4_ENST00000463705.1_5'UTR NM_000744.6|NM_001256573.1 NP_000735.1|NP_001243502.1 P43681 ACHA4_HUMAN cholinergic receptor, nicotinic, alpha 4 (neuronal) 604 B cell activation|behavioral response to nicotine|calcium ion transport|cognition|DNA repair|membrane depolarization|regulation of action potential|regulation of dopamine secretion|regulation of inhibitory postsynaptic membrane potential|response to hypoxia|response to oxidative stress|sensory perception of pain|synaptic transmission, cholinergic cell junction|dendrite|external side of plasma membrane|membrane fraction|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(19)|prostate(3)|skin(3)|soft_tissue(1) 33 all_cancers(38;1.71e-10) Nicotine(DB00184)|Varenicline(DB01273) GATGAACATCCAGAGGAAGAT 0.657000 25 72 0 0 1 0 0 KIF4B 285643 broad.mit.edu 37 5 154397041 154397041 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:154397041C>T ENST00000435029.4 + 1 3782 c.3622C>T c.(3622-3624)Cca>Tca p.P1208S NM_001099293.1 NP_001092763.1 Q2VIQ3 KIF4B_HUMAN kinesin family member 4B 1208 Globular (By similarity).|Interaction with PRC1 (By similarity). axon guidance|blood coagulation|microtubule-based movement cytosol|microtubule|nuclear matrix ATP binding|DNA binding|microtubule motor activity breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1) 58 Renal(175;0.00488) Medulloblastoma(196;0.0523) KIRC - Kidney renal clear cell carcinoma(527;0.00112) AAATAAGCCTCCAGGGAAGAA 0.507000 21 38 0 0 1 0 0 CCBE1 147372 broad.mit.edu 37 18 57122113 57122113 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr18:57122113C>T ENST00000439986.4 - 6 661 c.624G>A c.(622-624)atG>atA p.M208I CCBE1_ENST00000398179.2_5'UTR NM_133459.3 NP_597716.1 Q6UXH8 CCBE1_HUMAN collagen and calcium binding EGF domains 1 208 lymphangiogenesis|sprouting angiogenesis|venous blood vessel morphogenesis collagen calcium ion binding NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(3) 24 Colorectal(73;0.175) CGGTCTGCTTCATCTGGTAGA 0.552000 33 55 0 0 1 0 0 SLIT3 6586 broad.mit.edu 37 5 168096932 168096932 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:168096932C>T ENST00000519560.1 - 35 4611 c.4192G>A c.(4192-4194)Gga>Aga p.G1398R SLIT3_ENST00000332966.8_Missense_Mutation_p.G1405R|SLIT3_ENST00000404867.3_Missense_Mutation_p.G1398R NM_001271946.1|NM_003062.2 NP_001258875.1|NP_003053.1 O75094 SLIT3_HUMAN slit homolog 3 (Drosophila) 1398 EGF-like 8. apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway extracellular space|mitochondrion calcium ion binding|Roundabout binding endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) AAGTCCCCTCCATAGCCCTCG 0.542000 20 39 0 0 1 0 0 KIF2B 84643 broad.mit.edu 37 17 51901242 51901242 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:51901242C>T ENST00000268919.4 + 1 1004 c.848C>T c.(847-849)aCc>aTc p.T283I NM_032559.4 NP_115948.4 Q8N4N8 KIF2B_HUMAN kinesin family member 2B 283 Kinesin-motor. blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle ATP binding|microtubule motor activity NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 104 TACCAGTTCACCGCCCAGCCA 0.572000 24 62 0 0 1 0 0 HTRA1 5654 broad.mit.edu 37 10 124249127 124249127 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:124249127C>T ENST00000368984.3 + 3 890 c.762C>T c.(760-762)atC>atT p.I254I NM_002775.4 NP_002766.1 Q92743 HTRA1_HUMAN HtrA serine peptidase 1 254 Serine protease. proteolysis|regulation of cell growth extracellular space insulin-like growth factor binding|serine-type endopeptidase activity endometrium(1)|kidney(1)|large_intestine(8)|lung(7) 17 all_neural(114;0.0765)|Lung NSC(174;0.133)|all_lung(145;0.163)|Breast(234;0.238) TCGCACTCATCAAAATTGACC 0.522000 16 42 0 0 1 0 0 FAT4 79633 broad.mit.edu 37 4 126411609 126411609 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:126411609G>A ENST00000394329.3 + 17 13645 c.13632G>A c.(13630-13632)aaG>aaA p.K4544K FAT4_ENST00000335110.5_Silent_p.K2785K NM_024582.4 NP_078858.4 Q6V0I7 FAT4_HUMAN FAT atypical cadherin 4 4544 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6) 355 AGAAACCGAAGGAGAAGAAGA 0.517000 48 78 0 0 1 0 0 KLHL13 90293 broad.mit.edu 37 X 117053616 117053616 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chrX:117053616C>T ENST00000371876.1 - 3 2706 c.285G>A c.(283-285)agG>agA p.R95R KLHL13_ENST00000371882.1_Silent_p.R95R|KLHL13_ENST00000371878.1_Silent_p.R95R|KLHL13_ENST00000540167.1_Silent_p.R130R|KLHL13_ENST00000545703.1_Silent_p.R104R|KLHL13_ENST00000541812.1_Silent_p.R130R|KLHL13_ENST00000539496.1_Silent_p.R149R|KLHL13_ENST00000469946.1_Silent_p.R95R|KLHL13_ENST00000262820.3_Silent_p.R146R Q9P2N7 KLH13_HUMAN kelch-like family member 13 146 BTB. cytokinesis|mitosis|protein ubiquitination Cul3-RING ubiquitin ligase complex NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 34 CAATAATTTTCCTTAGACCGA 0.353000 48 20 0 0 1 0 0 MARCO 8685 broad.mit.edu 37 2 119726801 119726801 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:119726801C>T ENST00000327097.4 + 2 298 c.163C>T c.(163-165)Ctg>Ttg p.L55L MARCO_ENST00000541757.1_5'UTR NM_006770.3 NP_006761.1 Q9UEW3 MARCO_HUMAN macrophage receptor with collagenous structure 55 cell surface receptor linked signaling pathway|innate immune response collagen|integral to plasma membrane pattern recognition receptor activity|scavenger receptor activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 70 CTACCTGATCCTGCTCACCGC 0.602000 41 102 0 0 1 0 0 AQP6 363 broad.mit.edu 37 12 50367348 50367348 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:50367348G>A ENST00000315520.5 + 1 729 c.392G>A c.(391-393)gGg>gAg p.G131E AQP6_ENST00000551733.1_Intron NM_001652.3 NP_001643.2 Q13520 AQP6_HUMAN aquaporin 6, kidney specific 131 excretion|odontogenesis integral to plasma membrane|transport vesicle membrane anion channel activity|water channel activity endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(2) 13 GAGACCCTTGGGATCAACGTG 0.667000 8 19 0 0 1 0 0 CD320 51293 broad.mit.edu 37 19 8367395 8367395 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:8367395G>A ENST00000301458.5 - 5 865 c.801C>T c.(799-801)gcC>gcT p.A267A CD320_ENST00000537716.2_Silent_p.A225A NM_016579.3 NP_057663.1 Q9NPF0 CD320_HUMAN CD320 molecule 267 regulation of cell growth endoplasmic reticulum|integral to membrane growth factor activity central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2) 6 ACTCCTTCATGGCCACCAGTA 0.647000 45 79 0 0 1 0 0 SEC23A 10484 broad.mit.edu 37 14 39565260 39565260 + Nonsense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr14:39565260C>T ENST00000307712.6 - 2 580 c.63G>A c.(61-63)tgG>tgA p.W21* SEC23A_ENST00000548032.2_Nonsense_Mutation_p.W21*|SEC23A_ENST00000557280.1_Nonsense_Mutation_p.W21*|SEC23A_ENST00000545328.2_Nonsense_Mutation_p.W21*|SEC23A_ENST00000553970.1_Nonsense_Mutation_p.W21*|SEC23A_ENST00000536508.1_Intron NM_006364.2 NP_006355.2 Q15436 SC23A_HUMAN Sec23 homolog A (S. cerevisiae) 21 COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine COPII vesicle coat|cytosol|Golgi membrane|smooth endoplasmic reticulum membrane protein binding|zinc ion binding kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(1) 23 Hepatocellular(127;0.213) Lung(238;0.00047)|LUAD - Lung adenocarcinoma(48;0.000565) GBM - Glioblastoma multiforme(112;0.0151) GCCAAACATTCCAACTAAATC 0.393000 13 146 0 0 1 0 0 RPS6KC1 26750 broad.mit.edu 37 1 213414168 213414168 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:213414168C>T ENST00000366960.3 + 11 1499 c.1349C>T c.(1348-1350)cCt>cTt p.P450L RPS6KC1_ENST00000543470.1_Missense_Mutation_p.P238L|RPS6KC1_ENST00000543354.1_Missense_Mutation_p.P153L|RPS6KC1_ENST00000366959.3_Missense_Mutation_p.P438L|RPS6KC1_ENST00000490299.1_3'UTR NM_012424.3 NP_036556.2 Q96S38 KS6C1_HUMAN ribosomal protein S6 kinase, 52kDa, polypeptide 1 450 cell communication|signal transduction early endosome|membrane ATP binding|phosphatidylinositol binding|protein binding|protein serine/threonine kinase activity breast(1)|endometrium(6)|kidney(4)|large_intestine(8)|liver(2)|lung(15)|ovary(3)|prostate(1)|urinary_tract(3) 43 OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145) ACTTCTAGTCCTCAGGACAGC 0.423000 96 142 0 0 1 0 0 UNC80 285175 broad.mit.edu 37 2 210642037 210642037 + Nonsense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:210642037G>A ENST00000439458.1 + 4 434 c.354G>A c.(352-354)tgG>tgA p.W118* UNC80_ENST00000272845.5_Nonsense_Mutation_p.W118*|UNC80_ENST00000478701.1_3'UTR NM_032504.1 NP_115893.1 Q8N2C7 UNC80_HUMAN unc-80 homolog (C. elegans) 118 integral to membrane breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1) 20 CTCTACACTGGATGCTTCTGG 0.542000 34 99 0 0 1 0 0 LOC101927079 101927079 broad.mit.edu 37 15 22332667 22332667 + RNA SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr15:22332667C>T ENST00000558896.1 + 0 474 AGGGGATTTCCTACAGCAGGG 0.443000 29 107 0 0 1 0 0 RP11-478B9.1 0 broad.mit.edu 37 12 45458560 45458560 + RNA SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:45458560G>A ENST00000548424.1 + 0 448 GGTCCAGAGGGACCATCAACA 0.473000 17 32 0 0 1 0 0 CLCN6 1185 broad.mit.edu 37 1 11888623 11888623 + Missense_Mutation SNP A A C TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:11888623A>C ENST00000346436.6 + 12 1115 c.1063A>C c.(1063-1065)Aac>Cac p.N355H CLCN6_ENST00000376496.3_Missense_Mutation_p.N355H|CLCN6_ENST00000376492.3_Intron|CLCN6_ENST00000312413.6_Intron|CLCN6_ENST00000376487.3_Missense_Mutation_p.N333H NM_001286.3 NP_001277.1 P51797 CLCN6_HUMAN chloride channel, voltage-sensitive 6 355 cell volume homeostasis|signal transduction endosome membrane|integral to membrane antiporter activity|ATP binding|voltage-gated chloride channel activity cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(4) 36 Ovarian(185;0.249) Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000816)|KIRC - Kidney renal clear cell carcinoma(229;0.00268)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649) CAACTGTCTGAACAAGAGGCT 0.547000 125 232 0 0 1 0 0 IL36A 27179 broad.mit.edu 37 2 113765528 113765528 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:113765528C>T ENST00000259211.6 + 4 795 c.384C>T c.(382-384)atC>atT p.I128I NM_014440.1 NP_055255.1 Q9UHA7 IL36A_HUMAN interleukin 36, alpha 128 immune response|inflammatory response extracellular space cytokine activity|interleukin-1 receptor binding large_intestine(1)|lung(3)|ovary(2)|skin(1)|stomach(2) 9 GCTGGTTCATCGCTGTCAGCT 0.512000 40 65 0 0 1 0 0 KLK8 11202 broad.mit.edu 37 19 51499467 51499467 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:51499467C>T ENST00000600767.1 - 7 1120 c.631G>A c.(631-633)Gat>Aat p.D211N KLK8_ENST00000593490.1_Missense_Mutation_p.R25Q|KLK8_ENST00000391806.2_Missense_Mutation_p.D256N|KLK8_ENST00000347619.4_Missense_Mutation_p.D70N|KLK8_ENST00000291726.7_Missense_Mutation_p.D211N|KLK8_ENST00000320838.5_Missense_Mutation_p.R25Q|KLK8_ENST00000598195.1_5'UTR|CTB-147C22.9_ENST00000594512.1_RNA O60259 KLK8_HUMAN kallikrein-related peptidase 8 211 Peptidase S1. cell death|keratinocyte proliferation|memory|negative regulation of axon regeneration|negative regulation of myelination|neuron projection morphogenesis|proteolysis|regulation of synapse organization|response to wounding cytoplasm|extracellular space protein binding|serine-type endopeptidase activity central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(8)|prostate(1) 15 all_neural(266;0.026) OV - Ovarian serous cystadenocarcinoma(262;0.0033)|GBM - Glioblastoma multiforme(134;0.00888) CCTCCAGAATCGCCCTAGACA 0.557000 39 107 0 0 1 0 0 LRP10 26020 broad.mit.edu 37 14 23346437 23346437 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr14:23346437C>T ENST00000359591.4 + 7 2534 c.1843C>T c.(1843-1845)Cca>Tca p.P615S LRP10_ENST00000470660.1_Intron|LRP10_ENST00000546834.1_Intron NM_014045.3 NP_054764.2 Q7Z4F1 LRP10_HUMAN low density lipoprotein receptor-related protein 10 615 Pro-rich. endocytosis coated pit|integral to membrane central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(2) 32 all_cancers(95;4.69e-05) GBM - Glioblastoma multiforme(265;0.00549) GCAGGCACCCCCACTGCCCAT 0.672000 50 88 0 0 1 0 0 ZFY 7544 broad.mit.edu 37 Y 2829248 2829248 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chrY:2829248C>T ENST00000155093.3 + 3 516 c.195C>T c.(193-195)atC>atT p.I65I ZFY_ENST00000431102.1_Intron|ZFY_ENST00000383052.1_Silent_p.I65I|ZFY_ENST00000449237.1_Silent_p.I39I NM_003411.3 NP_003402.2 P08048 ZFY_HUMAN zinc finger protein, Y-linked 65 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding biliary_tract(1)|kidney(3)|large_intestine(1)|lung(3) 8 CAGTTGTAATCCAAGATGTTG 0.378000 9 48 0 0 1 0 0 CACNG1 786 broad.mit.edu 37 17 65040965 65040965 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:65040965G>A ENST00000226021.3 + 1 260 c.189G>A c.(187-189)atG>atA p.M63I NM_000727.3 NP_000718.1 Q06432 CCG1_HUMAN calcium channel, voltage-dependent, gamma subunit 1 63 muscle contraction voltage-gated calcium channel complex voltage-gated calcium channel activity breast(1)|large_intestine(2)|lung(2)|prostate(1)|skin(2) 8 all_cancers(12;1.04e-10)|Breast(2;1.45e-16)|all_epithelial(3;4.81e-12) Amlodipine(DB00381)|Diltiazem(DB00343)|Ibutilide(DB00308)|Lercanidipine(DB00528)|Magnesium Sulfate(DB00653)|Nimodipine(DB00393)|Nitrendipine(DB01054)|Verapamil(DB00661) GCATCCCCATGGACGACAGCA 0.662000 22 67 0 0 1 0 0 CHD8 57680 broad.mit.edu 37 14 21861657 21861657 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr14:21861657C>T ENST00000399982.2 - 31 6361 c.6297G>A c.(6295-6297)gaG>gaA p.E2099E CHD8_ENST00000430710.3_Silent_p.E1820E|CHD8_ENST00000557364.1_Silent_p.E2099E NM_001170629.1 NP_001164100.1 Q9HCK8 CHD8_HUMAN chromodomain helicase DNA binding protein 8 2099 ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent MLL1 complex ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 85 all_cancers(95;0.00121) Epithelial(56;2.55e-06)|all cancers(55;1.73e-05) GBM - Glioblastoma multiforme(265;0.00424) CCTTCTCATCCTCACTCTCAT 0.502000 5 5 0 0 1 0 0 HRC 3270 broad.mit.edu 37 19 49656977 49656977 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:49656977C>T ENST00000252825.4 - 1 1704 c.1518G>A c.(1516-1518)gaG>gaA p.E506E HRC_ENST00000595625.1_Silent_p.E506E NM_002152.2 NP_002143.1 P23327 SRCH_HUMAN histidine rich calcium binding protein 506 muscle contraction sarcoplasmic reticulum lumen calcium ion binding endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(10)|lung(10)|ovary(1)|prostate(3)|urinary_tract(2) 34 all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392) all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622) GGGTGCCTTTCTCTCCCTGCT 0.537000 28 66 0 0 1 0 0 RBM15 64783 broad.mit.edu 37 1 110882976 110882976 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:110882976C>T ENST00000369784.3 + 1 1849 c.949C>T c.(949-951)Cct>Tct p.P317S RBM15_ENST00000487146.2_Missense_Mutation_p.P317S|RBM15_ENST00000602849.1_Missense_Mutation_p.P317S NM_022768.4 NP_073605.4 Q96T37 RBM15_HUMAN RNA binding motif protein 15 317 interspecies interaction between organisms nucleus nucleotide binding|protein binding|RNA binding ovary(3) 3 all_cancers(81;2.89e-06)|all_epithelial(167;2.96e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Breast(1374;0.0634) BRCA - Breast invasive adenocarcinoma(282;0.000224)|Epithelial(280;0.000476)|Kidney(133;0.000539)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|all cancers(265;0.00144)|Lung(183;0.0238)|Colorectal(144;0.103)|LUSC - Lung squamous cell carcinoma(189;0.135) CCGCCTGCCCCCTCCACCTCC 0.612000 T MKL1 acute megakaryocytic leukemia 14 156 0 0 1 0 0 FASN 2194 broad.mit.edu 37 17 80051487 80051487 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:80051487G>A ENST00000306749.2 - 4 659 c.441C>T c.(439-441)ttC>ttT p.F147F NM_004104.4 NP_004095.4 P49327 FAS_HUMAN fatty acid synthase 147 Beta-ketoacyl synthase (By similarity). energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process cytosol|Golgi apparatus|melanosome|plasma membrane 3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1) 34 all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246) OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237) Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339) TGAAGTCGAAGAAGAAGGAGA 0.652000 34 121 0 0 1 0 0 ATP13A5 344905 broad.mit.edu 37 3 193068933 193068933 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:193068933C>T ENST00000342358.4 - 7 781 c.664G>A c.(664-666)Ggt>Agt p.G222S NM_198505.2 NP_940907.2 Q4VNC0 AT135_HUMAN ATPase type 13A5 222 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 76 all_cancers(143;1.08e-08)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06) GBM - Glioblastoma multiforme(46;0.000307) TCTATGTAACCTTGAGACAGC 0.418000 42 70 0 0 1 0 0 ITGA11 22801 broad.mit.edu 37 15 68631977 68631977 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr15:68631977C>T ENST00000423218.2 - 11 1232 c.1137G>A c.(1135-1137)ggG>ggA p.G379G ITGA11_ENST00000315757.7_Silent_p.G379G Q9UKX5 ITA11_HUMAN integrin, alpha 11 379 cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development integrin complex collagen binding|receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(6)|lung(22)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 52 Tirofiban(DB00775) CCAGCAGAACCCCATCCTGGC 0.597000 16 54 0 0 1 0 0 TNKS1BP1 85456 broad.mit.edu 37 11 57077065 57077065 + Silent SNP G G A rs150142077 byFrequency TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:57077065G>A ENST00000532437.1 - 5 3431 c.3120C>T c.(3118-3120)ctC>ctT p.L1040L TNKS1BP1_ENST00000358252.3_Silent_p.L1040L Q9C0C2 TB182_HUMAN tankyrase 1 binding protein 1, 182kDa 1040 Acidic.|Gly-rich. nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase cytoskeleton|cytosol|nuclear telomeric heterochromatin ankyrin binding|enzyme binding breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 all_epithelial(135;0.21) CTCTCTGCCCGAGTGCCCCAT 0.652000 63 122 0 0 1 0 0 SPATS1 221409 broad.mit.edu 37 6 44310938 44310938 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:44310938G>A ENST00000288390.2 + 1 453 c.106G>A c.(106-108)Gac>Aac p.D36N SPATS1_ENST00000323108.8_Missense_Mutation_p.D36N Q496A3 SPAS1_HUMAN spermatogenesis associated, serine-rich 1 36 NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(2)|lung(5)|skin(1)|urinary_tract(1) 14 all_lung(25;0.00469)|Ovarian(13;0.0273)|all_hematologic(164;0.208) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) AGAAAAAAGGGACTCTGGCAT 0.567000 22 112 0 0 1 0 0 GPC5 2262 broad.mit.edu 37 13 92345689 92345689 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr13:92345689G>A ENST00000377067.3 + 3 946 c.574G>A c.(574-576)Gaa>Aaa p.E192K NM_004466.4 NP_004457.1 P78333 GPC5_HUMAN glypican 5 192 anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix heparan sulfate proteoglycan binding NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 69 all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163) Lung NSC(4;0.00454) GGAATACTCAGAATGCATCCG 0.483000 38 50 0 0 1 0 0 MAGI1 9223 broad.mit.edu 37 3 65342558 65342558 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:65342558C>T ENST00000402939.2 - 23 3883 c.3884G>A c.(3883-3885)cGa>cAa p.R1295Q MAGI1_ENST00000330909.8_3'UTR NM_001033057.1 NP_001028229.1 Q96QZ7 MAGI1_HUMAN membrane associated guanylate kinase, WW and PDZ domain containing 1 1324 cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly tight junction ATP binding|protein C-terminus binding breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5) 51 Lung NSC(201;0.0016) BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133) GTCCTTGGGTCGGCATGCCCC 0.672000 6 118 0 0 1 0 0 NRAP 4892 broad.mit.edu 37 10 115349433 115349433 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:115349433C>T ENST00000369358.4 - 41 5348 c.5104G>A c.(5104-5106)Gga>Aga p.G1702R NRAP_ENST00000359988.3_Missense_Mutation_p.G1694R|NRAP_ENST00000369360.3_Missense_Mutation_p.G1667R|NRAP_ENST00000360478.3_Missense_Mutation_p.G1659R Q86VF7 NRAP_HUMAN nebulin-related anchoring protein 1694 fascia adherens|muscle tendon junction actin binding|muscle alpha-actinin binding|zinc ion binding autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 95 Colorectal(252;0.0233)|Breast(234;0.188) Epithelial(162;0.00392)|all cancers(201;0.00569) ACGTAAGCTCCCTGGAGACCC 0.552000 10 144 0 0 1 0 0 ZNF662 389114 broad.mit.edu 37 3 42956534 42956534 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:42956534G>A ENST00000541208.1 + 5 1338 c.969G>A c.(967-969)caG>caA p.Q323Q KRBOX1_ENST00000426937.1_Intron|ZNF662_ENST00000328199.6_Silent_p.Q349Q|ZNF662_ENST00000440367.2_Silent_p.Q323Q|ZNF662_ENST00000422021.1_Intron Q6ZS27 ZN662_HUMAN zinc finger protein 662 323 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(1)|large_intestine(6)|lung(5)|upper_aerodigestive_tract(1) 15 KIRC - Kidney renal clear cell carcinoma(284;0.217) TTCGACATCAGAGAATGCACA 0.502000 20 62 0 0 1 0 0 DAOA 267012 broad.mit.edu 37 13 106124905 106124905 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr13:106124905G>A ENST00000375936.3 + 3 198 c.152G>A c.(151-153)gGa>gAa p.G51E DAOA-AS1_ENST00000448407.1_RNA|DAOA_ENST00000329625.5_5'UTR NM_001161812.1|NM_172370.3 NP_001155284.1|NP_758958.3 P59103 DAOA_HUMAN D-amino acid oxidase activator 51 Golgi apparatus endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|skin(1) 13 Lung NSC(43;0.01)|all_neural(89;0.0741)|Lung SC(71;0.14)|Medulloblastoma(90;0.169) ACAGAAGAAGGAAGAGAGACG 0.388000 6 38 0 0 1 0 0 IGSF10 285313 broad.mit.edu 37 3 151160785 151160785 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:151160785C>T ENST00000282466.3 - 5 5949 c.5950G>A c.(5950-5952)Gac>Aac p.D1984N NM_001178145.1|NM_001178146.1|NM_178822.4 NP_001171616.1|NP_001171617.1|NP_849144.2 Q6WRI0 IGS10_HUMAN immunoglobulin superfamily, member 10 1984 Ig-like C2-type 6. cell differentiation|multicellular organismal development|ossification extracellular region NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3) 116 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) TGCTGCTGGTCGACCACAGCC 0.443000 38 73 0 0 1 0 0 C8orf82 414919 broad.mit.edu 37 8 145753370 145753370 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:145753370G>A ENST00000313465.5 - 2 418 c.243C>T c.(241-243)tcC>tcT p.S81S C8orf82_ENST00000524821.1_Intron NM_001001795.1 NP_001001795.1 Q6P1X6 CH082_HUMAN chromosome 8 open reading frame 82 0 endometrium(1)|urinary_tract(1) 2 TGCCCGGAAGGGAGAAAGAAG 0.602000 29 72 0 0 1 0 0 GNAZ 2781 broad.mit.edu 37 22 23465388 23465388 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr22:23465388C>T ENST00000248996.4 + 3 1504 c.838C>T c.(838-840)Cgc>Tgc p.R280C RTDR1_ENST00000216036.4_Intron NM_002073.2 NP_002064.1 P19086 GNAZ_HUMAN guanine nucleotide binding protein (G protein), alpha z polypeptide 280 endoplasmic reticulum|heterotrimeric G-protein complex|nuclear envelope G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|metabotropic serotonin receptor binding|receptor signaling protein activity endometrium(3)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(5)|urinary_tract(1) 19 all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181) READ - Rectum adenocarcinoma(21;0.166) AGAGAAGATCCGCCGCATCCC 0.552000 39 64 0 0 1 0 0 C16orf11 146325 broad.mit.edu 37 16 615187 615187 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr16:615187C>T ENST00000409413.3 + 3 1875 c.1596C>T c.(1594-1596)ctC>ctT p.L532L NM_145270.2 NP_660313.1 P0CG20 CP011_HUMAN chromosome 16 open reading frame 11 532 central_nervous_system(1)|endometrium(1)|lung(5)|ovary(1)|skin(1)|urinary_tract(1) 10 GGCTCCCCCTCGCAGCCCCAG 0.682000 19 40 0 0 1 0 0 LGMN 5641 broad.mit.edu 37 14 93199064 93199064 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr14:93199064G>A ENST00000393218.2 - 3 405 c.68C>T c.(67-69)cCt>cTt p.P23L LGMN_ENST00000557434.1_Missense_Mutation_p.P23L|LGMN_ENST00000334869.4_Missense_Mutation_p.P23L|LGMN_ENST00000555699.1_Missense_Mutation_p.P23L NM_001008530.2 NP_001008530.1 Q99538 LGMN_HUMAN legumain 23 hormone biosynthetic process|negative regulation of neuron apoptosis|vitamin D metabolic process lysosome cysteine-type endopeptidase activity|protein serine/threonine kinase activity endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(5)|skin(2) 18 all_cancers(154;0.0706) COAD - Colon adenocarcinoma(157;0.224) TCCATCTTCAGGATCATCTAT 0.453000 8 192 0 0 1 0 0 FLRT3 23767 broad.mit.edu 37 20 14308120 14308120 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr20:14308120G>A ENST00000378053.3 - 2 289 c.33C>T c.(31-33)atC>atT p.I11I MACROD2_ENST00000217246.4_Intron|FLRT3_ENST00000341420.4_Silent_p.I11I|MACROD2_ENST00000310348.4_Intron NM_013281.3 NP_037413.1 Q9NZU0 FLRT3_HUMAN fibronectin leucine rich transmembrane protein 3 11 cell adhesion integral to plasma membrane|proteinaceous extracellular matrix protein binding, bridging|receptor signaling protein activity breast(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 Colorectal(1;0.0464) COAD - Colon adenocarcinoma(2;0.129) Colorectal(1;0.0393) TTTTAGTCCCGATGAGGAAGA 0.463000 4 69 0 0 1 0 0 ZNF492 57615 broad.mit.edu 37 19 22836201 22836201 + Translation_Start_Site SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:22836201G>A ENST00000456783.2 + 0 244 NM_020855.2 NP_065906.1 Q9P255 ZN492_HUMAN zinc finger protein 492 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 all_cancers(12;0.0266)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00203)|Hepatocellular(1079;0.244) ATAGGAATGTGATGTTAGAGA 0.388000 47 135 0 0 1 0 0 PSD4 23550 broad.mit.edu 37 2 113951213 113951213 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:113951213G>A ENST00000245796.6 + 9 2272 c.2077G>A c.(2077-2079)Gac>Aac p.D693N PSD4_ENST00000441564.2_Missense_Mutation_p.D665N NM_012455.2 NP_036587.2 Q8NDX1 PSD4_HUMAN pleckstrin and Sec7 domain containing 4 693 SEC7. regulation of ARF protein signal transduction cytoplasm|plasma membrane ARF guanyl-nucleotide exchange factor activity cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 GCTTAACACGGACCTGCATGG 0.542000 5 97 0 0 1 0 0 PCDH15 65217 broad.mit.edu 37 10 56106166 56106166 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:56106166C>T ENST00000373965.2 - 6 947 c.553G>A c.(553-555)Gga>Aga p.G185R PCDH15_ENST00000395446.1_Missense_Mutation_p.G185R|PCDH15_ENST00000437009.1_Missense_Mutation_p.G185R|PCDH15_ENST00000395445.1_Missense_Mutation_p.G185R|PCDH15_ENST00000395433.1_Missense_Mutation_p.G163R|PCDH15_ENST00000373957.3_Missense_Mutation_p.G163R|PCDH15_ENST00000395430.1_Missense_Mutation_p.G185R|PCDH15_ENST00000395442.1_Missense_Mutation_p.G185R|PCDH15_ENST00000395432.2_Missense_Mutation_p.G185R|PCDH15_ENST00000395438.1_Missense_Mutation_p.G185R|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000395440.1_Missense_Mutation_p.G185R|PCDH15_ENST00000373955.1_Missense_Mutation_p.G185R|PCDH15_ENST00000361849.3_Missense_Mutation_p.G185R|PCDH15_ENST00000414778.1_Missense_Mutation_p.G190R|PCDH15_ENST00000320301.6_Missense_Mutation_p.G185R NM_001142771.1|NM_001142772.1 NP_001136243.1|NP_001136244.1 Q96QU1 PCD15_HUMAN protocadherin-related 15 185 Cadherin 2. equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1) 237 Melanoma(3;0.117)|Lung SC(717;0.238) TCTATCTGTCCATTTGGTCCA 0.318000 HNSCC(58;0.16) 47 67 0 0 1 0 0 SEL1L3 23231 broad.mit.edu 37 4 25803934 25803934 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:25803934G>A ENST00000399878.3 - 11 2049 c.1927C>T c.(1927-1929)Ctt>Ttt p.L643F SEL1L3_ENST00000264868.5_Missense_Mutation_p.L608F|SEL1L3_ENST00000502949.1_Missense_Mutation_p.L490F NM_015187.3 NP_056002.2 Q68CR1 SE1L3_HUMAN sel-1 suppressor of lin-12-like 3 (C. elegans) 643 integral to membrane binding breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2) 14 TGCTGGTCAAGGGGTGTCTTG 0.483000 18 25 0 0 1 0 0 FMN2 56776 broad.mit.edu 37 1 240286627 240286627 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:240286627G>A ENST00000319653.9 + 2 1994 c.1764G>A c.(1762-1764)acG>acA p.T588T NM_020066.4 NP_064450.3 Q9NZ56 FMN2_HUMAN formin 2 588 actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions actin binding NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2) 178 Ovarian(103;0.127) all_cancers(173;0.013) OV - Ovarian serous cystadenocarcinoma(106;0.0106) ATGCCCAGACGAATGCAGCTT 0.478000 55 84 0 0 1 0 0 TMPRSS7 344805 broad.mit.edu 37 3 111793181 111793181 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:111793181G>A ENST00000452346.2 + 14 1708 c.1705G>A c.(1705-1707)Gat>Aat p.D569N TMPRSS7_ENST00000419127.1_Missense_Mutation_p.D443N Q7RTY8 TMPS7_HUMAN transmembrane protease, serine 7 569 LDL-receptor class A 3. proteolysis integral to membrane|plasma membrane serine-type endopeptidase activity p.D298Y(1) breast(2)|endometrium(6)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 34 GTGTGGCAATGATATTTGCTT 0.373000 43 95 0 0 1 0 0 SLC5A9 200010 broad.mit.edu 37 1 48701532 48701532 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:48701532G>A ENST00000236495.5 + 11 1398 c.1348G>A c.(1348-1350)Gag>Aag p.E450K SLC5A9_ENST00000533824.1_Missense_Mutation_p.E446K|SLC5A9_ENST00000420136.2_3'UTR|SLC5A9_ENST00000438567.2_Missense_Mutation_p.E425K NM_001135181.1 NP_001128653.1 Q2M3M2 SC5A9_HUMAN solute carrier family 5 (sodium/sugar cotransporter), member 9 425 integral to membrane|plasma membrane low-affinity glucose:sodium symporter activity breast(1)|endometrium(3)|large_intestine(4)|liver(2)|lung(11)|ovary(3)|prostate(1)|urinary_tract(1) 26 AACAGAGCAGGAGCTGATGGT 0.622000 38 80 0 0 1 0 0 FYCO1 79443 broad.mit.edu 37 3 45972751 45972751 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:45972751C>T ENST00000296137.2 - 16 4268 c.4063G>A c.(4063-4065)Gat>Aat p.D1355N FYCO1_ENST00000535325.1_Missense_Mutation_p.D1375N|FYCO1_ENST00000438446.1_Missense_Mutation_p.D26N NM_024513.3 NP_078789.2 Q9BQS8 FYCO1_HUMAN FYVE and coiled-coil domain containing 1 1355 GOLD. transport integral to membrane metal ion binding|protein binding NS(4)|breast(3)|central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(17)|prostate(4)|skin(2)|upper_aerodigestive_tract(1) 54 BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323) GCGATCTCATCCACTGTGAGG 0.542000 5 107 0 0 1 0 0 DENND5B 160518 broad.mit.edu 37 12 31566417 31566417 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:31566417G>A ENST00000389082.5 - 13 2898 c.2634C>T c.(2632-2634)ctC>ctT p.L878L DENND5B_ENST00000536562.1_Silent_p.L913L|DENND5B_ENST00000306833.6_Silent_p.L913L NM_144973.3 NP_659410.3 Q6ZUT9 DEN5B_HUMAN DENN/MADD domain containing 5B 878 RUN 1. integral to membrane p.L878L(1) NS(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 38 GCTGGGACAAGAGCTTCTTTT 0.403000 31 48 0 0 1 0 0 GABRB2 2561 broad.mit.edu 37 5 160753459 160753459 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:160753459C>T ENST00000274547.2 - 10 1324 c.1107G>A c.(1105-1107)ggG>ggA p.G369G GABRB2_ENST00000520240.1_Intron|GABRB2_ENST00000393959.1_Silent_p.G369G|GABRB2_ENST00000517547.1_Intron|GABRB2_ENST00000353437.6_Intron|GABRB2_ENST00000517901.1_Intron NM_000813.2|NM_021911.2 NP_000804.1|NP_068711.1 P47870 GBRB2_HUMAN gamma-aminobutyric acid (GABA) A receptor, beta 2 369 gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|GABA-A receptor activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 26 Renal(175;0.00259) Medulloblastoma(196;0.021)|all_neural(177;0.0463) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683) gatattgggtcccattttgtt 0.388000 34 52 0 0 1 0 0 TBCEL 219899 broad.mit.edu 37 11 120957569 120957569 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:120957569G>A ENST00000422003.2 + 8 1227 c.1039G>A c.(1039-1041)Gaa>Aaa p.E347K TBCEL_ENST00000529397.1_Missense_Mutation_p.E347K NM_152715.3 NP_689928.3 Q5QJ74 TBCEL_HUMAN tubulin folding cofactor E-like 347 Ubiquitin-like. cytoplasm|cytoskeleton TECTA/TBCEL(2) endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 14 Breast(109;0.00526)|Medulloblastoma(222;0.0523)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;5.89e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.121) TGCAAAAGTAGAAGTCCACTT 0.413000 21 15 0 0 1 0 0 BAZ2A 11176 broad.mit.edu 37 12 57006908 57006908 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:57006908G>A ENST00000179765.5 - 6 1135 c.936C>T c.(934-936)tcC>tcT p.S312S BAZ2A_ENST00000379441.3_Silent_p.S314S|BAZ2A_ENST00000549884.1_Silent_p.S342S|BAZ2A_ENST00000551812.1_Silent_p.S344S Q9UIF9 BAZ2A_HUMAN bromodomain adjacent to zinc finger domain, 2A 344 chromatin silencing at rDNA|DNA methylation|transcription, DNA-dependent chromatin silencing complex|nucleolus|rDNA heterochromatin DNA binding|histone acetyl-lysine binding|ligand-dependent nuclear receptor binding|RNA binding|zinc ion binding breast(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(15)|urinary_tract(1) 31 CATTATTGAGGGAAGGGCAAT 0.517000 4 150 0 0 1 0 0 OR1J2 26740 broad.mit.edu 37 9 125273252 125273252 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:125273252C>T ENST00000335302.5 + 1 172 c.172C>T c.(172-174)Ccc>Tcc p.P58S NM_054107.1 NP_473448.1 Q8NGS2 OR1J2_HUMAN olfactory receptor, family 1, subfamily J, member 2 58 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(7)|stomach(1) 26 CCTTCACACCCCCATGTACTT 0.527000 40 195 0 0 1 0 0 GPR141 353345 broad.mit.edu 37 7 37780724 37780724 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:37780724C>T ENST00000447769.1 + 4 1018 c.729C>T c.(727-729)ttC>ttT p.F243F EPDR1_ENST00000476620.1_Intron|GPR141_ENST00000334425.1_Silent_p.F243F|GPR141_ENST00000461610.1_Intron Q7Z602 GP141_HUMAN G protein-coupled receptor 141 243 integral to membrane|plasma membrane G-protein coupled receptor activity NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(13)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 CCTACCAGTTCTTTAGGATCT 0.408000 73 101 0 0 1 0 0 MOCOS 55034 broad.mit.edu 37 18 33779935 33779935 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr18:33779935C>T ENST00000261326.5 + 4 610 c.589C>T c.(589-591)Ctc>Ttc p.L197F NM_017947.2 NP_060417.2 Q96EN8 MOCOS_HUMAN molybdenum cofactor sulfurase 197 Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process cytosol lyase activity|Mo-molybdopterin cofactor sulfurase activity|molybdenum ion binding|pyridoxal phosphate binding breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|liver(1)|lung(15)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 Pyridoxal Phosphate(DB00114) GCTGCCGCATCTCTTCTGCTA 0.567000 36 60 0 0 1 0 0 KCNH2 3757 broad.mit.edu 37 7 150647305 150647305 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:150647305G>A ENST00000392968.2 - 7 3181 c.2061C>T c.(2059-2061)tcC>tcT p.S687S KCNH2_ENST00000430723.3_Silent_p.S783S|KCNH2_ENST00000262186.5_Silent_p.S783S|KCNH2_ENST00000330883.4_Silent_p.S443S Q12809 KCNH2_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 2 783 blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent voltage-gated potassium channel complex delayed rectifier potassium channel activity|two-component sensor activity NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1) 42 all_neural(206;0.219) OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661) TGGAGCCCCGGGAGATGAAGT 0.652000 8 189 0 0 1 0 0 AP1G2 8906 broad.mit.edu 37 14 24030579 24030579 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr14:24030579G>A ENST00000308724.5 - 18 2674 c.1919C>T c.(1918-1920)cCt>cTt p.P640L AP1G2_ENST00000397120.3_Missense_Mutation_p.P640L|RP11-66N24.3_ENST00000555968.1_RNA NM_003917.2 NP_003908.1 O75843 AP1G2_HUMAN adaptor-related protein complex 1, gamma 2 subunit 640 interspecies interaction between organisms|intracellular protein transport|vesicle-mediated transport AP-1 adaptor complex|endosome membrane protein binding|protein transporter activity breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(4)|ovary(1)|pancreas(1)|stomach(1) 28 all_cancers(95;0.000251) GBM - Glioblastoma multiforme(265;0.00672) CAGATGGGGAGGATGCTGGAC 0.602000 5 93 0 0 1 0 0 FLG 2312 broad.mit.edu 37 1 152285640 152285640 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:152285640C>T ENST00000368799.1 - 3 1757 c.1722G>A c.(1720-1722)gaG>gaA p.E574E FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 574 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity p.E574D(1) autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CTGATTGTTCCTCATTTCGTG 0.552000 Ichthyosis 365 472 0 0 1 0 0 SLITRK3 22865 broad.mit.edu 37 3 164907277 164907277 + Nonsense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:164907277G>A ENST00000475390.1 - 2 1785 c.1342C>T c.(1342-1344)Caa>Taa p.Q448* SLITRK3_ENST00000241274.3_Nonsense_Mutation_p.Q448* O94933 SLIK3_HUMAN SLIT and NTRK-like family, member 3 448 integral to membrane NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5) 119 GCCCCATCTTGGACATAGGAA 0.428000 HNSCC(40;0.11) 22 45 0 0 1 0 0 TCERG1L 256536 broad.mit.edu 37 10 133107523 133107523 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:133107523G>A ENST00000368642.4 - 2 467 c.382C>T c.(382-384)Ccc>Tcc p.P128S NM_174937.3 NP_777597.2 Q5VWI1 TCRGL_HUMAN transcription elongation regulator 1-like 128 cervix(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 31 all_cancers(35;1.22e-10)|all_epithelial(44;2.65e-09)|Lung NSC(174;0.00188)|all_lung(145;0.00307)|Melanoma(40;0.0179)|all_neural(114;0.0424)|Breast(234;0.0743)|Colorectal(57;0.09) all cancers(32;0.000899)|OV - Ovarian serous cystadenocarcinoma(35;0.0021)|Epithelial(32;0.00276) GTGGAAGAGGGGGGCAGTCCT 0.527000 23 56 0 0 1 0 0 SCGB2B2 284402 broad.mit.edu 37 19 35085424 35085424 + Silent SNP G G T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:35085424G>T ENST00000601241.1 - 2 2145 c.45C>A c.(43-45)atC>atA p.I15I SCGB2B2_ENST00000379204.2_Silent_p.I15I|SCGB2B2_ENST00000595326.1_Intron Q4G0G5 SCGBL_HUMAN secretoglobin, family 2B, member 2 15 extracellular region binding GGACGCTGCAGATCAGAGCCA 0.602000 21 73 1.96292e-10 1.97483e-10 1 1 0 GPR112 139378 broad.mit.edu 37 X 135431720 135431720 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chrX:135431720C>T ENST00000394143.1 + 6 6146 c.5855C>T c.(5854-5856)tCt>tTt p.S1952F GPR112_ENST00000412101.1_Missense_Mutation_p.S1747F|GPR112_ENST00000287534.4_Missense_Mutation_p.S1889F|GPR112_ENST00000394141.1_Missense_Mutation_p.S1747F|GPR112_ENST00000370652.1_Missense_Mutation_p.S1952F NM_153834.3 NP_722576.3 Q8IZF6 GP112_HUMAN G protein-coupled receptor 112 1952 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2) 199 Acute lymphoblastic leukemia(192;0.000127) CATGGGCTTTCTGAGAACCCT 0.413000 65 39 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9047127 9047127 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:9047127C>T ENST00000397910.4 - 5 34707 c.34504G>A c.(34504-34506)Gtt>Att p.V11502I NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 11504 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 GTCCTGGGAACCATTGTGTTG 0.507000 38 113 0 0 1 0 0 GRIN2B 2904 broad.mit.edu 37 12 13761675 13761675 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:13761675C>T ENST00000279593.3 - 9 2081 c.1872G>A c.(1870-1872)aaG>aaA p.K624K NM_000834.3 NP_000825.2 Q13224 NMDE2_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2B 624 response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding p.K624K(1)|p.G625R(1) NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1) 143 Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) AGGTGGTCCCCTTTGGGTTCT 0.532000 29 59 0 0 1 0 0 CNGA3 1261 broad.mit.edu 37 2 99013247 99013247 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:99013247C>T ENST00000393504.1 + 8 2031 c.1614C>T c.(1612-1614)ttC>ttT p.F538F CNGA3_ENST00000409937.1_Silent_p.F542F|CNGA3_ENST00000436404.2_Silent_p.F520F|CNGA3_ENST00000272602.2_Silent_p.F538F NM_001298.2 NP_001289.1 Q16281 CNGA3_HUMAN cyclic nucleotide gated channel alpha 3 538 signal transduction|visual perception integral to membrane cGMP binding p.F538L(1) breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3) 49 TCACCCAGTTCGTGGTCCTCA 0.557000 77 152 0 0 1 0 0 NMUR2 56923 broad.mit.edu 37 5 151771905 151771905 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:151771905G>A ENST00000255262.3 - 4 1260 c.1095C>T c.(1093-1095)ttC>ttT p.F365F NM_020167.4 NP_064552.3 Q9GZQ4 NMUR2_HUMAN neuromedin U receptor 2 365 activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|arachidonic acid secretion|calcium ion transport|central nervous system development|elevation of cytosolic calcium ion concentration|regulation of smooth muscle contraction integral to membrane|plasma membrane GTP binding|intracellular calcium activated chloride channel activity|neuromedin U receptor activity breast(1)|endometrium(1)|kidney(2)|large_intestine(12)|liver(1)|lung(15)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 44 Medulloblastoma(196;0.091)|all_hematologic(541;0.103) Kidney(363;0.000106)|KIRC - Kidney renal clear cell carcinoma(527;0.000672) ATTCTGTCAGGAAGATGTTCC 0.537000 56 116 0 0 1 0 0 DNM1P46 196968 broad.mit.edu 37 15 100333011 100333011 + RNA SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr15:100333011C>T ENST00000341853.1 - 0 1180 NR_003260.1 TCCTTCTCTCCAAAGATCTTT 0.587000 4 85 0 0 1 0 0 IL1F10 84639 broad.mit.edu 37 2 113832216 113832216 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:113832216C>T ENST00000337569.3 + 3 110 c.35C>T c.(34-36)tCc>tTc p.S12F IL1F10_ENST00000393197.2_Intron|IL1F10_ENST00000341010.2_Intron Q8WWZ1 IL1FA_HUMAN interleukin 1 family, member 10 (theta) 12 extracellular space cytokine activity|interleukin-1 receptor antagonist activity endometrium(1)|lung(6)|ovary(1) 8 ATGTCCAGTTCCTTCCTGCCT 0.577000 85 159 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9045830 9045830 + Missense_Mutation SNP A A C TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:9045830A>C ENST00000397910.4 - 5 36004 c.35801T>G c.(35800-35802)tTt>tGt p.F11934C NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 11936 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 AGTCCTGGAAAATTCTGGGGG 0.488000 9 142 0 0 1 0 0 ABCA3 21 broad.mit.edu 37 16 2349459 2349459 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr16:2349459G>A ENST00000301732.5 - 14 2386 c.1686C>T c.(1684-1686)acC>acT p.T562T ABCA3_ENST00000382381.3_Silent_p.T504T NM_001089.2 NP_001080.2 Q99758 ABCA3_HUMAN ATP-binding cassette, sub-family A (ABC1), member 3 562 ABC transporter 1. response to drug integral to membrane|lamellar body|membrane fraction|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1) 70 Ovarian(90;0.17) CCAGCAGGACGGTGATCTGTC 0.652000 94 150 0 0 1 0 0 TET3 200424 broad.mit.edu 37 2 74274534 74274534 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:74274534C>T ENST00000409262.3 + 1 1085 c.1085C>T c.(1084-1086)tCc>tTc p.S362F NM_144993.1 NP_659430.1 O43151 TET3_HUMAN tet methylcytosine dioxygenase 3 362 metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 GCACCCTCTTCCTCCCCGGCC 0.652000 10 27 0 0 1 0 0 MROH2B 133558 broad.mit.edu 37 5 41047850 41047850 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:41047850G>A ENST00000399564.4 - 17 2151 c.1701C>T c.(1699-1701)acC>acT p.T567T MROH2B_ENST00000506092.2_Silent_p.T122T NM_173489.4 NP_775760.3 maestro heat-like repeat family member 2B CCCATAGAACGGTACTGATGT 0.383000 6 9 0 0 1 0 0 PRR16 51334 broad.mit.edu 37 5 120022269 120022269 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:120022269C>T ENST00000379551.2 + 3 1068 c.711C>T c.(709-711)ttC>ttT p.F237F PRR16_ENST00000446965.1_Silent_p.F190F|PRR16_ENST00000407149.2_Silent_p.F260F|PRR16_ENST00000505123.1_Silent_p.F190F NM_016644.1 NP_057728.1 Q569H4 PRR16_HUMAN proline rich 16 260 Pro-rich. endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 28 all_cancers(142;0.0464)|Prostate(80;0.00446) KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221) OV - Ovarian serous cystadenocarcinoma(64;0.000126)|Epithelial(69;0.000331)|all cancers(49;0.00169) TCCCTCCTTTCCCACTAGAAA 0.547000 23 56 0 0 1 0 0 TTC40 54777 broad.mit.edu 37 10 134743238 134743238 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:134743238G>A ENST00000368586.5 - 9 1037 c.937C>T c.(937-939)Ctc>Ttc p.L313F TTC40_ENST00000368585.3_Missense_Mutation_p.L313F|TTC40_ENST00000368582.2_Missense_Mutation_p.L313F NM_001200049.2 NP_001186978.2 Q8IYW2 CJ092_HUMAN tetratricopeptide repeat domain 40 0 breast(1)|endometrium(5)|lung(19)|urinary_tract(3) 28 AGGTCTGAGAGGCAGGCAGAG 0.502000 44 76 0 0 1 0 0 OR52M1 119772 broad.mit.edu 37 11 4566931 4566931 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:4566931C>T ENST00000360213.1 + 1 511 c.511C>T c.(511-513)Ctt>Ttt p.L171F NM_001004137.1 NP_001004137.1 Q8NGK5 O52M1_HUMAN olfactory receptor, family 52, subfamily M, member 1 171 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|large_intestine(2)|lung(9)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 18 Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577) Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19) GCGGCTGCCCCTTTATAAAAC 0.527000 48 65 0 0 1 0 0 OR2B6 26212 broad.mit.edu 37 6 27925315 27925315 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:27925315C>T ENST00000244623.1 + 1 297 c.297C>T c.(295-297)gcC>gcT p.A99A NM_012367.1 NP_036499.1 P58173 OR2B6_HUMAN olfactory receptor, family 2, subfamily B, member 6 99 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|large_intestine(3)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 GCTGTGTAGCCCAGCTTTTCA 0.438000 74 87 0 0 1 0 0 HEPACAM 220296 broad.mit.edu 37 11 124793669 124793669 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:124793669G>A ENST00000298251.4 - 3 1070 c.665C>T c.(664-666)cCc>cTc p.P222L NM_152722.4 NP_689935.2 Q14CZ8 HECAM_HUMAN hepatic and glial cell adhesion molecule 222 Ig-like C2-type. cell adhesion|cell cycle arrest|regulation of growth cytoplasm|integral to membrane breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 22 all_hematologic(175;0.215) Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.54e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0308) CTGGCTGATGGGGTTCTCCAC 0.572000 22 24 0 0 1 0 0 SLC39A5 283375 broad.mit.edu 37 12 56625161 56625161 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:56625161G>A ENST00000266980.4 + 2 396 c.103G>A c.(103-105)Gag>Aag p.E35K SLC39A5_ENST00000454355.2_Missense_Mutation_p.E35K NM_001135195.1 NP_001128667.1 Q6ZMH5 S39A5_HUMAN solute carrier family 39 (zinc transporter), member 5 35 zinc ion transport basolateral plasma membrane|integral to membrane metal ion transmembrane transporter activity NS(1)|cervix(6)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 TGCTGAGCAGGAGCAGAACCA 0.652000 30 208 0 0 1 0 0 TAS2R13 50838 broad.mit.edu 37 12 11061220 11061220 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:11061220G>A ENST00000390677.2 - 1 941 c.678C>T c.(676-678)gtC>gtT p.V226V PRR4_ENST00000536668.1_Intron NM_023920.2 NP_076409.1 Q9NYV9 T2R13_HUMAN taste receptor, type 2, member 13 226 sensory perception of taste integral to membrane taste receptor activity breast(1)|endometrium(1)|large_intestine(4)|lung(2)|skin(1) 9 CATTTGTATGGACCTTGGTCC 0.388000 35 90 0 0 1 0 0 LOC645752 645752 broad.mit.edu 37 15 78211276 78211276 + RNA SNP T T A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr15:78211276T>A ENST00000565869.1 + 0 111 RP11-114H24.2_ENST00000567226.1_RNA CTCCTCCTTTTGCAGCCTCTC 0.572000 7 440 0 0 1 0 0 RPL22 6146 broad.mit.edu 37 1 6246833 6246833 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:6246833G>A ENST00000234875.4 - 4 324 c.286C>T c.(286-288)Cta>Tta p.L96L RPL22_ENST00000484532.1_Intron|RPL22_ENST00000497965.1_Silent_p.L63L NM_000983.3 NP_000974.1 P35268 RL22_HUMAN ribosomal protein L22 96 endocrine pancreas development|translational elongation|translational termination|viral transcription cytosolic large ribosomal subunit heparin binding|RNA binding|structural constituent of ribosome kidney(1)|large_intestine(2)|lung(2)|skin(1) 6 Ovarian(185;0.0634) all_cancers(23;2.78e-38)|all_epithelial(116;8.88e-22)|all_lung(118;7.95e-08)|Lung NSC(185;1.6e-06)|all_neural(13;3.18e-06)|all_hematologic(16;8.99e-06)|Acute lymphoblastic leukemia(12;0.000365)|Breast(487;0.000496)|Renal(390;0.0007)|Colorectal(325;0.00104)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)|Medulloblastoma(700;0.211) Epithelial(90;4.53e-38)|GBM - Glioblastoma multiforme(13;3.33e-32)|OV - Ovarian serous cystadenocarcinoma(86;2.8e-19)|Colorectal(212;6.8e-08)|COAD - Colon adenocarcinoma(227;8.04e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00311)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.182) CAGTCACGTAGATTATTCTTC 0.398000 T RUNX1 """AML, CML""" 25 32 0 0 1 0 0 CYP4B1 1580 broad.mit.edu 37 1 47284469 47284469 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:47284469C>T ENST00000271153.4 + 12 1555 c.1519C>T c.(1519-1521)Cct>Tct p.P507S CYP4B1_ENST00000371919.4_Missense_Mutation_p.P493S|CYP4B1_ENST00000452782.2_Missense_Mutation_p.P345S|CYP4B1_ENST00000371923.4_Missense_Mutation_p.P508S P13584 CP4B1_HUMAN cytochrome P450, family 4, subfamily B, polypeptide 1 507 xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 36 Acute lymphoblastic leukemia(166;0.155) GCCACTGGGCCCTGGGTCTGG 0.612000 45 86 0 0 1 0 0 CTTNBP2 83992 broad.mit.edu 37 7 117431546 117431546 + Missense_Mutation SNP G G C TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:117431546G>C ENST00000160373.3 - 4 1795 c.1704C>G c.(1702-1704)gaC>gaG p.D568E NM_033427.2 NP_219499.1 Q8WZ74 CTTB2_HUMAN cortactin binding protein 2 568 breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 83 Lung NSC(10;0.0018)|all_lung(10;0.002) LUSC - Lung squamous cell carcinoma(290;0.133) CCCTGCTGCTGTCTATAATAA 0.512000 42 134 0 0 1 0 0 EXPH5 23086 broad.mit.edu 37 11 108385013 108385013 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:108385013C>T ENST00000265843.4 - 6 1331 c.1221G>A c.(1219-1221)agG>agA p.R407R EXPH5_ENST00000525344.1_Silent_p.R400R|EXPH5_ENST00000524840.1_5'UTR|EXPH5_ENST00000428840.1_Silent_p.R331R|EXPH5_ENST00000443411.1_Silent_p.R219R NM_015065.2 NP_055880.2 Q149M6 Q149M6_HUMAN exophilin 5 407 intracellular protein transport Rab GTPase binding breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1) 91 all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16) Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184) CCTGAAAACCCCTGGGATACA 0.448000 72 93 0 0 1 0 0 DSP 1832 broad.mit.edu 37 6 7585080 7585080 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:7585080G>A ENST00000379802.3 + 24 7926 c.7585G>A c.(7585-7587)Gat>Aat p.D2529N DSP_ENST00000418664.2_Missense_Mutation_p.D1930N NM_004415.2 NP_004406.2 P15924 DESP_HUMAN desmoplakin 2529 Globular 2. cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural constituent of cytoskeleton biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5) 101 Ovarian(93;0.0584) all_hematologic(90;0.236) OV - Ovarian serous cystadenocarcinoma(45;0.000508) CAGTCAGTATGATATTCAAGA 0.478000 47 120 0 0 1 0 0 LYPD6B 130576 broad.mit.edu 37 2 150061773 150061773 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:150061773G>A ENST00000409642.3 + 4 485 c.84G>A c.(82-84)aaG>aaA p.K28K LYPD6B_ENST00000409029.1_Silent_p.K4K|LYPD6B_ENST00000498249.1_3'UTR|LYPD6B_ENST00000280115.7_Silent_p.K28K|LYPD6B_ENST00000409876.1_Silent_p.K4K NM_177964.3 NP_808879.2 Q8NI32 LPD6B_HUMAN LY6/PLAUR domain containing 6B 4 anchored to membrane|plasma membrane endometrium(3)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1) 11 ATAGATATAAGAGTTCGGACC 0.438000 45 98 0 0 1 0 0 FAT3 120114 broad.mit.edu 37 11 92086095 92086095 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:92086095C>T ENST00000298047.6 + 1 834 c.817C>T c.(817-819)Cct>Tct p.P273S FAT3_ENST00000409404.2_Missense_Mutation_p.P273S|FAT3_ENST00000525166.1_Missense_Mutation_p.P123S|FAT3_ENST00000541502.1_Missense_Mutation_p.P273S Q8TDW7 FAT3_HUMAN FAT atypical cadherin 3 273 Cadherin 3. homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 85 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) CACTCATGTTCCTTTCTCGTT 0.438000 TCGA Ovarian(4;0.039) 56 103 0 0 1 0 0 MTOR 2475 broad.mit.edu 37 1 11204735 11204735 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:11204735G>A ENST00000361445.4 - 34 4918 c.4842C>T c.(4840-4842)atC>atT p.I1614I MTOR-AS1_ENST00000420480.1_RNA|MTOR_ENST00000495435.1_5'UTR|MTOR-AS1_ENST00000445982.1_RNA NM_004958.3 NP_004949.1 P42345 MTOR_HUMAN mechanistic target of rapamycin (serine/threonine kinase) 1614 FAT. cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex ATP binding|phosphoprotein binding|protein serine/threonine kinase activity breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 149 TCTGGCGGATGATCTCTCGTC 0.577000 21 58 0 0 1 0 0 RP11-407N17.3 0 broad.mit.edu 37 14 39716366 39716366 + Nonsense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr14:39716366G>A ENST00000553728.1 + 4 801 c.588G>A c.(586-588)tgG>tgA p.W196* MIA2_ENST00000556784.1_Nonsense_Mutation_p.W195*|MIA2_ENST00000280082.3_Nonsense_Mutation_p.W196* CAAAAGACTGGGAAGAAGTAG 0.418000 38 99 0 0 1 0 0 RPN1 6184 broad.mit.edu 37 3 128345651 128345651 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:128345651C>T ENST00000296255.3 - 6 1109 c.1061G>A c.(1060-1062)aGg>aAg p.R354K RPN1_ENST00000497289.1_Missense_Mutation_p.R182K|RPN1_ENST00000490166.1_5'UTR NM_002950.3 NP_002941.1 P04843 RPN1_HUMAN ribophorin I 354 post-translational protein modification|protein N-linked glycosylation via asparagine integral to membrane|melanosome|oligosaccharyltransferase complex|rough microsome dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(2)|stomach(2) 13 GBM - Glioblastoma multiforme(114;0.189) GTCCACAAACCTCATCTTCAG 0.458000 T EVI1 AML 28 72 0 0 1 0 0 TRERF1 55809 broad.mit.edu 37 6 42236733 42236733 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:42236733G>A ENST00000541110.1 - 5 1164 c.596C>T c.(595-597)tCc>tTc p.S199F TRERF1_ENST00000340840.2_Missense_Mutation_p.S199F|TRERF1_ENST00000354325.2_Missense_Mutation_p.S199F|TRERF1_ENST00000372917.4_Missense_Mutation_p.S199F|TRERF1_ENST00000372922.4_Missense_Mutation_p.S199F Q96PN7 TREF1_HUMAN transcriptional regulating factor 1 199 cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process nucleus DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2) 45 Colorectal(47;0.196) Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152) CTGGTAGCGGGAAGGGATAGC 0.637000 45 120 0 0 1 0 0 KIF1A 547 broad.mit.edu 37 2 241724457 241724457 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:241724457G>A ENST00000498729.2 - 7 915 c.669C>T c.(667-669)atC>atT p.I223I KIF1A_ENST00000320389.7_Silent_p.I223I NM_001244008.1 NP_001230937.1 Q12756 KIF1A_HUMAN kinesin family member 1A 223 Kinesin-motor. anterograde axon cargo transport cytoplasm|microtubule|nucleus ATP binding|microtubule motor activity NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1) 66 all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176) GGGTGAAGATGATGTTGAAGA 0.607000 7 278 0 0 1 0 0 KCNH4 23415 broad.mit.edu 37 17 40321537 40321537 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:40321537G>A ENST00000264661.3 - 9 1880 c.1548C>T c.(1546-1548)ttC>ttT p.F516F KCNH4_ENST00000607371.1_Silent_p.F516F NM_012285.2 NP_036417.1 Q9UQ05 KCNH4_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 4 516 regulation of transcription, DNA-dependent voltage-gated potassium channel complex two-component sensor activity|voltage-gated potassium channel activity autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1) 32 all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.126) ACGTGGTCTGGAAGTATTCGA 0.657000 10 109 0 0 1 0 0 KALRN 8997 broad.mit.edu 37 3 124165637 124165637 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:124165637G>A ENST00000360013.3 + 21 3578 c.3451G>A c.(3451-3453)Gaa>Aaa p.E1151K KALRN_ENST00000460856.1_Missense_Mutation_p.E1142K|KALRN_ENST00000240874.3_Missense_Mutation_p.E1151K NM_001024660.3 NP_001019831.2 O60229 KALRN_HUMAN kalirin, RhoGEF kinase 1151 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport actin cytoskeleton|cytosol ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 83 AGAAACAGGTGAATTTTACCT 0.483000 65 137 0 0 1 0 0 TLR7 51284 broad.mit.edu 37 X 12904656 12904656 + Silent SNP C C T rs140793578 byFrequency TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chrX:12904656C>T ENST00000380659.3 + 3 1168 c.1029C>T c.(1027-1029)atC>atT p.I343I NM_016562.3 NP_057646.1 Q9NYK1 TLR7_HUMAN toll-like receptor 7 343 cellular response to mechanical stimulus|defense response to virus|I-kappaB phosphorylation|inflammatory response|innate immune response|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus early phagosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosome|plasma membrane double-stranded RNA binding|single-stranded RNA binding|siRNA binding|transmembrane receptor activity NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 44 Imiquimod(DB00724) CCAGCCTCATCCAATTGGATC 0.398000 4 101 0 0 1 0 0 IKZF3 22806 broad.mit.edu 37 17 37949006 37949006 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:37949006C>T ENST00000346872.3 - 4 405 c.344G>A c.(343-345)aGt>aAt p.S115N IKZF3_ENST00000377952.2_Intron|IKZF3_ENST00000346243.3_Missense_Mutation_p.S115N|IKZF3_ENST00000351680.3_Missense_Mutation_p.S115N|IKZF3_ENST00000377944.3_Intron|IKZF3_ENST00000467757.1_Missense_Mutation_p.S115N|IKZF3_ENST00000439016.2_Missense_Mutation_p.S115N|IKZF3_ENST00000535189.1_Missense_Mutation_p.S81N|IKZF3_ENST00000394189.2_Intron|IKZF3_ENST00000439167.2_Missense_Mutation_p.S81N|IKZF3_ENST00000377958.2_Intron|IKZF3_ENST00000377945.3_Missense_Mutation_p.S115N|IKZF3_ENST00000350532.3_Missense_Mutation_p.S115N NM_012481.4 NP_036613.2 Q9UKT9 IKZF3_HUMAN IKAROS family zinc finger 3 (Aiolos) 115 B cell activation|mesoderm development|regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(6)|large_intestine(4)|liver(1)|lung(13)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 42 Breast(7;4.5e-103)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052) UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171) CATCTTTCCACTGGTTGGCCT 0.393000 38 79 0 0 1 0 0 HOXC13 3229 broad.mit.edu 37 12 54338960 54338960 + Missense_Mutation SNP A A G TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:54338960A>G ENST00000243056.3 + 2 1069 c.913A>G c.(913-915)Acc>Gcc p.T305A NM_017410.2 NP_059106.2 P31276 HXC13_HUMAN homeobox C13 305 nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|large_intestine(1)|skin(1) 3 GCGCCAGGTAACCATCTGGTT 0.582000 T NUP98 AML 15 117 0 0 1 0 0 PPP5C 5536 broad.mit.edu 37 19 46891968 46891968 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:46891968C>T ENST00000012443.4 + 11 1438 c.1335C>T c.(1333-1335)gtC>gtT p.V445V PPP5C_ENST00000391919.1_Silent_p.V317V NM_006247.3 NP_006238.1 P53041 PPP5_HUMAN protein phosphatase 5, catalytic subunit 445 Catalytic. mitosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein dephosphorylation|transcription, DNA-dependent Golgi apparatus|nucleus metal ion binding|protein binding|protein serine/threonine phosphatase activity|signal transducer activity endometrium(4)|kidney(1)|large_intestine(5)|liver(2)|lung(4)|ovary(1)|pancreas(1) 18 Ovarian(192;0.0731)|all_neural(266;0.196) OV - Ovarian serous cystadenocarcinoma(262;0.000196)|all cancers(93;0.00192)|GBM - Glioblastoma multiforme(486;0.0499)|Epithelial(262;0.0504) GTGTCACCGTCTTCTCTGCCC 0.532000 53 105 0 0 1 0 0 INPP5D 3635 broad.mit.edu 37 2 234078699 234078699 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:234078699C>T ENST00000359570.5 + 17 1644 c.1644C>T c.(1642-1644)ctC>ctT p.L548L INPP5D_ENST00000455936.2_Silent_p.L312L|INPP5D_ENST00000450745.1_Silent_p.L312L|INPP5D_ENST00000538935.1_Silent_p.L547L Q92835 SHIP1_HUMAN inositol polyphosphate-5-phosphatase, 145kDa 560 apoptosis|blood coagulation|leukocyte migration|T cell receptor signaling pathway cytosol inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|SH3 domain binding central_nervous_system(1)|ovary(1) 2 Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843) Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185) TGAACATTCTCCGGTTCCTGG 0.532000 56 124 0 0 1 0 0 GRXCR1 389207 broad.mit.edu 37 4 42964963 42964963 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:42964963C>T ENST00000399770.2 + 2 439 c.439C>T c.(439-441)Cgt>Tgt p.R147C NM_001080476.2 NP_001073945.1 A8MXD5 GRCR1_HUMAN glutaredoxin, cysteine rich 1 147 Glutaredoxin. cell redox homeostasis|inner ear receptor stereocilium organization|sensory perception of sound|vestibular receptor cell development kinocilium|stereocilium electron carrier activity|protein disulfide oxidoreductase activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(22)|ovary(1)|prostate(2)|skin(1) 32 CACCTGCCTTCGTGTGGTCCG 0.388000 73 146 0 0 1 0 0 TAS2R60 338398 broad.mit.edu 37 7 143141175 143141175 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:143141175C>T ENST00000332690.1 + 1 630 c.630C>T c.(628-630)ttC>ttT p.F210F EPHA1-AS1_ENST00000429289.1_RNA NM_177437.1 NP_803186.1 P59551 T2R60_HUMAN taste receptor, type 2, member 60 210 sensory perception of bitter taste integral to membrane G-protein coupled receptor activity breast(1)|kidney(1)|large_intestine(2)|lung(17)|prostate(1)|skin(7)|urinary_tract(2) 31 Melanoma(164;0.172) CTGTCTTTTTCATTTGCATGA 0.453000 107 242 0 0 1 0 0 BPIFA2 140683 broad.mit.edu 37 20 31763353 31763353 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr20:31763353C>T ENST00000253362.2 + 5 697 c.551C>T c.(550-552)tCc>tTc p.S184F BPIFA2_ENST00000354932.5_Missense_Mutation_p.S184F Q96DR5 SPLC2_HUMAN BPI fold containing family A, member 2 184 extracellular region lipid binding ATCTCACTTTCCTTGCTGGAC 0.532000 52 143 0 0 1 0 0 ASTN1 460 broad.mit.edu 37 1 176833552 176833552 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:176833552C>T ENST00000367654.2 - 23 3790 c.3777G>A c.(3775-3777)ctG>ctA p.L1259L ASTN1_ENST00000367657.3_Intron|ASTN1_ENST00000361833.2_Silent_p.L1251L O14525 ASTN1_HUMAN astrotactin 1 1259 cell migration|neuron cell-cell adhesion integral to membrane NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3) 153 AGCGGCACCCCAGGTACTTGA 0.587000 62 104 0 0 1 0 0 TRIML1 339976 broad.mit.edu 37 4 189061694 189061694 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:189061694G>A ENST00000332517.3 + 2 561 c.421G>A c.(421-423)Gaa>Aaa p.E141K NM_178556.3 NP_848651.2 Q8N9V2 TRIML_HUMAN tripartite motif family-like 1 141 multicellular organismal development ligase activity|zinc ion binding NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1) 60 all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062) OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156) GAAACTCCAGGAAATCCTGAA 0.493000 27 56 0 0 1 0 0 ARHGAP26 23092 broad.mit.edu 37 5 142434007 142434007 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:142434007C>T ENST00000378004.3 + 15 1644 c.1289C>T c.(1288-1290)cCc>cTc p.P430L ARHGAP26_ENST00000274498.4_Missense_Mutation_p.P430L NM_001135608.1 NP_001129080.1 Q9UNA1 RHG26_HUMAN Rho GTPase activating protein 26 430 Rho-GAP. actin cytoskeleton organization|filopodium assembly|nervous system development|small GTPase mediated signal transduction cytoskeleton|cytosol|focal adhesion cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(7)|ovary(1) 25 all_hematologic(541;0.0416) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) ATTTTAGACCCCAAGACTGCT 0.383000 66 258 0 0 1 0 0 KLK8 11202 broad.mit.edu 37 19 51503860 51503860 + Missense_Mutation SNP T T C TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:51503860T>C ENST00000391806.2 - 3 265 c.185A>G c.(184-186)aAc>aGc p.N62S KLK8_ENST00000593490.1_Intron|KLK8_ENST00000347619.4_Intron|KLK8_ENST00000291726.7_Intron|KLK8_ENST00000320838.5_Intron|CTB-147C22.9_ENST00000594512.1_RNA|KLK9_ENST00000376832.4_Intron|KLK9_ENST00000250366.6_Intron|KLK8_ENST00000600767.1_Intron O60259 KLK8_HUMAN kallikrein-related peptidase 8 23 Peptidase S1. cell death|keratinocyte proliferation|memory|negative regulation of axon regeneration|negative regulation of myelination|neuron projection morphogenesis|proteolysis|regulation of synapse organization|response to wounding cytoplasm|extracellular space protein binding|serine-type endopeptidase activity central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(8)|prostate(1) 15 all_neural(266;0.026) OV - Ovarian serous cystadenocarcinoma(262;0.0033)|GBM - Glioblastoma multiforme(134;0.00888) AGGGAGAGGGTTGGATCGCCA 0.622000 40 77 0 0 1 0 0 GPR116 221395 broad.mit.edu 37 6 46821785 46821785 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:46821785C>T ENST00000283296.7 - 21 4273 c.3985G>A c.(3985-3987)Gaa>Aaa p.E1329K GPR116_ENST00000456426.2_Missense_Mutation_p.E1187K|GPR116_ENST00000362015.4_Missense_Mutation_p.E1309K|GPR116_ENST00000265417.7_Missense_Mutation_p.E1329K|GPR116_ENST00000545669.1_3'UTR NM_001098518.1 NP_001091988.1 Q8IZF2 GP116_HUMAN G protein-coupled receptor 116 1329 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 59 Lung(136;0.192) CTGGTTGCTTCTGGGGTGGAA 0.498000 6 158 0 0 1 0 0 PCSK9 255738 broad.mit.edu 37 1 55529209 55529209 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:55529209C>T ENST00000302118.5 + 12 2321 c.2031C>T c.(2029-2031)atC>atT p.I677I PCSK9_ENST00000490692.1_3'UTR NM_174936.3 NP_777596.2 Q8NBP7 PCSK9_HUMAN proprotein convertase subtilisin/kexin type 9 677 cellular response to insulin stimulus|cellular response to starvation|cholesterol homeostasis|cholesterol metabolic process|kidney development|liver development|low-density lipoprotein particle receptor catabolic process|lysosomal transport|negative regulation of catalytic activity|negative regulation of low-density lipoprotein particle clearance|negative regulation of receptor recycling|neuron differentiation|positive regulation of neuron apoptosis|positive regulation of receptor internalization|protein autoprocessing|regulation of receptor activity extracellular space|late endosome|lysosome|perinuclear region of cytoplasm apolipoprotein receptor binding|identical protein binding|low-density lipoprotein particle receptor binding|serine-type endopeptidase activity|very-low-density lipoprotein particle receptor binding NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(1)|liver(2)|lung(4)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1) 32 CCGTTGCCATCTGCTGCCGGA 0.677000 30 39 0 0 1 0 0 ZNF90 7643 broad.mit.edu 37 19 20229954 20229954 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:20229954C>T ENST00000418063.2 + 4 1703 c.1591C>T c.(1591-1593)Cat>Tat p.H531Y ZNF90_ENST00000474284.1_Intron NM_007138.1 NP_009069.1 Q03938 ZNF90_HUMAN zinc finger protein 90 531 Golgi apparatus|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|lung(2)|ovary(1)|skin(1) 5 TAAGATAATTCATACTGGAGC 0.413000 16 35 0 0 1 0 0 COL2A1 1280 broad.mit.edu 37 12 48379522 48379522 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:48379522G>A ENST00000380518.3 - 25 1833 c.1669C>T c.(1669-1671)Cct>Tct p.P557S COL2A1_ENST00000337299.6_Missense_Mutation_p.P488S|COL2A1_ENST00000493991.1_5'UTR NM_001844.4|NM_033150.2 NP_001835.3|NP_149162.2 P02458 CO2A1_HUMAN collagen, type II, alpha 1 557 Triple-helical region. axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception collagen type II identical protein binding|platelet-derived growth factor binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3) 64 Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214) Collagenase(DB00048) CGGGCTCCAGGAAGGCCAGGT 0.652000 12 23 0 0 1 0 0 ANO1 55107 broad.mit.edu 37 11 70011663 70011663 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:70011663G>A ENST00000355303.5 + 20 2343 c.2038G>A c.(2038-2040)Gag>Aag p.E680K ANO1_ENST00000538023.1_Missense_Mutation_p.E680K|ANO1_ENST00000398543.2_Missense_Mutation_p.E534K|ANO1_ENST00000531349.1_Missense_Mutation_p.E389K|ANO1_ENST00000530676.1_Missense_Mutation_p.E534K NM_018043.5 NP_060513.5 Q5XXA6 ANO1_HUMAN anoctamin 1, calcium activated chloride channel 680 multicellular organismal development chloride channel complex|cytoplasm|plasma membrane intracellular calcium activated chloride channel activity central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(12)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1) 29 CAACCTGTTCGAGATCGGCAT 0.642000 11 21 0 0 1 0 0 F13A1 2162 broad.mit.edu 37 6 6318877 6318877 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:6318877G>A ENST00000264870.3 - 2 286 c.21C>T c.(19-21)acC>acT p.T7T NM_000129.3 NP_000120.2 P00488 F13A_HUMAN coagulation factor XIII, A1 polypeptide 7 peptide cross-linking|platelet activation|platelet degranulation extracellular region|platelet alpha granule lumen acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity p.T7T(1) NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 62 Ovarian(93;0.0816) all_hematologic(90;0.152) L-Glutamine(DB00130) CTCCAAAGGCGGTCCTGGAAG 0.468000 76 255 0 0 1 0 0 COL11A2 1302 broad.mit.edu 37 6 33145218 33145218 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:33145218G>A ENST00000341947.2 - 23 2169 c.1942C>T c.(1942-1944)Cct>Tct p.P648S COL11A2_ENST00000361917.1_Missense_Mutation_p.P541S|COL11A2_ENST00000374714.1_Missense_Mutation_p.P622S|COL11A2_ENST00000477772.1_5'UTR|COL11A2_ENST00000374712.1_Missense_Mutation_p.P567S|COL11A2_ENST00000374713.1_Missense_Mutation_p.P601S|COL11A2_ENST00000395197.1_Missense_Mutation_p.P588S|COL11A2_ENST00000357486.1_Missense_Mutation_p.P627S|COL11A2_ENST00000374708.4_Missense_Mutation_p.P562S NM_080680.2 NP_542411.2 P13942 COBA2_HUMAN collagen, type XI, alpha 2 648 Triple-helical region. cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development collagen type XI extracellular matrix structural constituent conferring tensile strength|protein binding, bridging biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6) 68 TGTTGTCCAGGAGGTCCTGGC 0.577000 27 57 0 0 1 0 0 SLCO4C1 353189 broad.mit.edu 37 5 101593000 101593000 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:101593000G>A ENST00000310954.6 - 8 1574 c.1288C>T c.(1288-1290)Cct>Tct p.P430S NM_180991.4 NP_851322.3 Q6ZQN7 SO4C1_HUMAN solute carrier organic anion transporter family, member 4C1 430 cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis basolateral plasma membrane|integral to membrane sodium-independent organic anion transmembrane transporter activity breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5) 50 all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486) Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986) GCAGCTCCAGGAATTAAAACA 0.363000 17 52 0 0 1 0 0 STAB2 55576 broad.mit.edu 37 12 104126925 104126925 + Missense_Mutation SNP G G A rs79381679 byFrequency TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:104126925G>A ENST00000388887.2 + 51 5629 c.5425G>A c.(5425-5427)Gag>Aag p.E1809K NM_017564.9 NP_060034.9 Q8WWQ8 STAB2_HUMAN stabilin 2 1809 FAS1 6. angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis cytoplasm|external side of plasma membrane|integral to plasma membrane Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2) 174 CAAGCTGAAGGAGTATTTGAA 0.473000 6 168 0 0 1 0 0 SLC18A2 6571 broad.mit.edu 37 10 119003771 119003771 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:119003771G>A ENST00000298472.5 + 3 554 c.411G>A c.(409-411)tcG>tcA p.S137S SLC18A2_ENST00000497497.1_3'UTR NM_003054.4 NP_003045.2 Q05940 VMAT2_HUMAN solute carrier family 18 (vesicular monoamine transporter), member 2 137 neurotransmitter secretion clathrin sculpted monoamine transport vesicle membrane|integral to plasma membrane|membrane fraction monoamine transmembrane transporter activity NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16) 29 Colorectal(252;0.19) all cancers(201;0.029) Alseroxylon(DB00386)|Reserpine(DB00206)|Tetrabenazine(DB04844) TGTTTGCCTCGAAAGCCACCG 0.488000 14 51 0 0 1 0 0 KLHL3 26249 broad.mit.edu 37 5 137056200 137056200 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:137056200G>A ENST00000309755.4 - 2 531 c.88C>T c.(88-90)Cct>Tct p.P30S KLHL3_ENST00000508657.1_5'UTR|KLHL3_ENST00000394937.3_Missense_Mutation_p.P30S NM_017415.2 NP_059111.2 Q9UH77 KLHL3_HUMAN kelch-like family member 3 30 cytoplasm|cytoskeleton actin binding|structural molecule activity breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|stomach(1)|upper_aerodigestive_tract(1) 21 all_hematologic(541;3.67e-07)|Breast(839;7.61e-05)|Prostate(281;0.000825)|Ovarian(839;0.0481)|all_lung(232;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) GBM - Glioblastoma multiforme(465;0.0223) ATGTGGGCAGGGTTGACAGTG 0.507000 40 82 0 0 1 0 0 CPXM2 119587 broad.mit.edu 37 10 125506412 125506412 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:125506412C>T ENST00000241305.3 - 14 2293 c.2139G>A c.(2137-2139)agG>agA p.R713R CPXM2_ENST00000368854.3_Intron NM_198148.2 NP_937791.2 Q8N436 CPXM2_HUMAN carboxypeptidase X (M14 family), member 2 713 cell adhesion|proteolysis extracellular space metallocarboxypeptidase activity|zinc ion binding p.R713S(1) NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3) 47 all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233) COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237) TGAAGTCACACCTTGTGGCCC 0.552000 11 256 0 0 1 0 0 LIFR 3977 broad.mit.edu 37 5 38510674 38510674 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:38510674C>T ENST00000263409.4 - 7 1045 c.883G>A c.(883-885)Gaa>Aaa p.E295K LIFR_ENST00000453190.2_Missense_Mutation_p.E295K|LIFR_ENST00000503088.1_5'UTR NM_002310.5 NP_002301.1 P42702 LIFR_HUMAN leukemia inhibitory factor receptor alpha 295 positive regulation of cell proliferation extracellular region|integral to plasma membrane ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2) 78 all_lung(31;0.00021) GCAACATTTTCCCCATCAAGA 0.363000 T PLAG1 salivary adenoma 31 125 0 0 1 0 0 EPHA1 2041 broad.mit.edu 37 7 143095044 143095044 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:143095044G>A ENST00000275815.3 - 8 1670 c.1584C>T c.(1582-1584)tcC>tcT p.S528S NM_005232.4 NP_005223.4 P21709 EPHA1_HUMAN EPH receptor A1 528 Fibronectin type-III 2. integral to plasma membrane ATP binding|ephrin receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(21)|ovary(4)|skin(1)|stomach(1)|urinary_tract(3) 51 Melanoma(164;0.205) Myeloproliferative disorder(862;0.0255) CATGATCAGGGGAGAAAGGGC 0.567000 44 98 0 0 1 0 0 SPTB 6710 broad.mit.edu 37 14 65246580 65246580 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr14:65246580C>T ENST00000389722.3 - 20 4389 c.4336G>A c.(4336-4338)Gga>Aga p.G1446R SPTB_ENST00000556626.1_Missense_Mutation_p.G1446R|SPTB_ENST00000389720.3_Missense_Mutation_p.G1446R|SPTB_ENST00000389721.5_Missense_Mutation_p.G1446R|SPTB_ENST00000542895.1_Missense_Mutation_p.G1446R NM_001024858.2 NP_001020029.1 P11277 SPTB1_HUMAN spectrin, beta, erythrocytic 1446 actin filament capping|axon guidance cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton actin filament binding|structural constituent of cytoskeleton breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3) 106 all_lung(585;4.15e-09) all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628) CCCTCCTCTCCCATTGAAGGC 0.577000 93 190 0 0 1 0 0 LRRC27 80313 broad.mit.edu 37 10 134151181 134151181 + Missense_Mutation SNP C C A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:134151181C>A ENST00000392638.2 + 3 518 c.323C>A c.(322-324)tCt>tAt p.S108Y LRRC27_ENST00000368612.1_Missense_Mutation_p.S46Y|LRRC27_ENST00000368613.4_Missense_Mutation_p.S108Y|LRRC27_ENST00000344079.5_Missense_Mutation_p.S108Y|LRRC27_ENST00000368610.3_Missense_Mutation_p.S46Y|LRRC27_ENST00000356571.4_Missense_Mutation_p.S108Y|LRRC27_ENST00000368615.3_Missense_Mutation_p.S108Y|LRRC27_ENST00000432555.2_5'UTR|LRRC27_ENST00000368614.3_Missense_Mutation_p.S108Y Q9C0I9 LRC27_HUMAN leucine rich repeat containing 27 108 breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1) 18 all_cancers(35;6.28e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19) OV - Ovarian serous cystadenocarcinoma(35;9.12e-05)|Epithelial(32;0.000116)|all cancers(32;0.000145)|BRCA - Breast invasive adenocarcinoma(275;0.218) GCGCTTCCTTCTGGGATTGGA 0.438000 45 72 1.22102e-19 1.23316e-19 1 1 0 PCDH19 57526 broad.mit.edu 37 X 99661616 99661616 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chrX:99661616G>A ENST00000373034.4 - 1 3655 c.1980C>T c.(1978-1980)atC>atT p.I660I PCDH19_ENST00000255531.7_Silent_p.I660I|PCDH19_ENST00000420881.2_Silent_p.I660I NM_001184880.1 NP_001171809.1 Q8TAB3 PCD19_HUMAN protocadherin 19 660 Cadherin 6. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 68 GGGACAAGTAGATTAGGACGA 0.547000 24 6 0 0 1 0 0 CLDN25 644672 broad.mit.edu 37 11 113651039 113651039 + Silent SNP T T C TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:113651039T>C ENST00000453129.2 + 1 571 c.522T>C c.(520-522)atT>atC p.I174I NM_001101389.1 NP_001094859.1 C9JDP6 CLD25_HUMAN claudin 25 174 integral to membrane|tight junction structural molecule activity large_intestine(1)|lung(6)|ovary(1)|urinary_tract(2) 10 CTGCTGGTATTTTCCTGGCTC 0.552000 7 37 0 0 1 0 0 OR2T27 403239 broad.mit.edu 37 1 248813822 248813822 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:248813822G>A ENST00000344889.3 - 1 363 c.364C>T c.(364-366)Cgc>Tgc p.R122C NM_001001824.1 NP_001001824.1 Q8NH04 O2T27_HUMAN olfactory receptor, family 2, subfamily T, member 27 122 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|endometrium(2)|large_intestine(4)|lung(20)|skin(3)|stomach(1) 32 all_cancers(71;1.15e-05)|all_epithelial(71;5.29e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.089)|Lung NSC(105;0.0969)|Melanoma(84;0.199) all_cancers(173;0.237) OV - Ovarian serous cystadenocarcinoma(106;0.0265) GCTACGTAGCGATCATAGGAC 0.547000 40 68 0 0 1 0 0 IFRD2 7866 broad.mit.edu 37 3 50325899 50325899 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:50325899G>A ENST00000436390.1 - 14 1686 c.1189C>T c.(1189-1191)Cct>Tct p.P397S IFRD2_ENST00000336089.4_Missense_Mutation_p.P563S|IFRD2_ENST00000429673.2_Missense_Mutation_p.P461S|IFRD2_ENST00000417626.2_Missense_Mutation_p.P397S Q12894 IFRD2_HUMAN interferon-related developmental regulator 2 461 binding breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1) 14 BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607) AACAGCACAGGGCCCAGGCCA 0.582000 16 34 0 0 1 0 0 MUC5B 727897 broad.mit.edu 37 11 1269780 1269780 + Nonsense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:1269780G>A ENST00000447027.1 + 31 11737 c.11679G>A c.(11677-11679)tgG>tgA p.W3893* RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000529681.1_Nonsense_Mutation_p.W3890* Q9HC84 MUC5B_HUMAN mucin 5B, oligomeric mucus/gel-forming 3890 11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich. cell adhesion extracellular region extracellular matrix structural constituent|protein binding p.W3845C(1)|p.W3890C(1) cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1) 137 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) CTCCAGTGTGGATCAGCACAA 0.647000 40 47 0 0 1 0 0 COL1A1 1277 broad.mit.edu 37 17 48272658 48272658 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:48272658G>A ENST00000225964.5 - 19 1352 c.1234C>T c.(1234-1236)Cct>Tct p.P412S NM_000088.3 NP_000079.2 P02452 CO1A1_HUMAN collagen, type I, alpha 1 412 Triple-helical region. axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception collagen type I|extracellular space|plasma membrane identical protein binding|platelet-derived growth factor binding COL1A1/PDGFB(429) NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 71 Collagenase(DB00048)|Palifermin(DB00039) CGGGCACCAGGGAAGCCAGGA 0.677000 T """PDGFB, USP6""" """dermatofibrosarcoma protuberans, aneurysmal bone cyst """ Osteogenesis imperfecta 20 48 0 0 1 0 0 MAEL 84944 broad.mit.edu 37 1 166963285 166963285 + Nonsense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:166963285C>T ENST00000367872.4 + 5 746 c.502C>T c.(502-504)Cga>Tga p.R168* MAEL_ENST00000491055.1_3'UTR|MAEL_ENST00000367870.2_Nonsense_Mutation_p.R137* NM_032858.1 NP_116247.1 Q96JY0 MAEL_HUMAN maelstrom spermatogenic transposon silencer 168 cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|multicellular organismal development|piRNA metabolic process|spermatogenesis piP-body DNA binding breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(12)|skin(4) 28 ACGAGGATTTCGATTTCATTG 0.338000 19 43 0 0 1 0 0 ASCL4 121549 broad.mit.edu 37 12 108169016 108169016 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:108169016G>A ENST00000342331.4 + 1 855 c.24G>A c.(22-24)gcG>gcA p.A8A NM_203436.2 NP_982260.2 Q6XD76 ASCL4_HUMAN achaete-scute family bHLH transcription factor 4 7 regulation of transcription from RNA polymerase II promoter|skin development|transcription, DNA-dependent nucleus DNA binding breast(2)|central_nervous_system(1)|large_intestine(3)|lung(6)|upper_aerodigestive_tract(1) 13 GTAAACCGGCGGAACGGCTGG 0.607000 57 114 0 0 1 0 0 ADAMTS15 170689 broad.mit.edu 37 11 130343213 130343213 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:130343213C>T ENST00000299164.2 + 8 2350 c.2350C>T c.(2350-2352)Ctc>Ttc p.L784F NM_139055.2 NP_620686.1 Q8TE58 ATS15_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 15 784 Spacer. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(8)|urinary_tract(1) 36 all_hematologic(175;0.0429) Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215) CGTGGAGGTCCTCTCCGTGGG 0.672000 64 59 0 0 1 0 0 EPB41L1 2036 broad.mit.edu 37 20 34806797 34806797 + Splice_Site SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr20:34806797G>A ENST00000338074.2 + 18 2429 c.e18-1 EPB41L1_ENST00000373950.2_Splice_Site|EPB41L1_ENST00000373946.3_Splice_Site|EPB41L1_ENST00000373941.1_Splice_Site|EPB41L1_ENST00000202028.5_Splice_Site|EPB41L1_ENST00000441639.1_Splice_Site NM_001258329.1|NM_012156.2 NP_001245258.1|NP_036288.2 Q9H4G0 E41L1_HUMAN erythrocyte membrane protein band 4.1-like 1 cortical actin cytoskeleton organization|synaptic transmission cytoskeleton|cytosol|extrinsic to membrane|plasma membrane actin binding|structural molecule activity breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(10)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 37 Breast(12;0.0239) TGTTTCCCCAGGAGAACAGTC 0.602000 22 34 0 0 1 0 0 CSMD1 64478 broad.mit.edu 37 8 3265691 3265691 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:3265691G>A ENST00000602557.1 - 15 2359 c.1804C>T c.(1804-1806)Cca>Tca p.P602S CSMD1_ENST00000602723.1_Missense_Mutation_p.P602S|CSMD1_ENST00000537824.1_Missense_Mutation_p.P601S|CSMD1_ENST00000400186.3_Missense_Mutation_p.P602S|CSMD1_ENST00000539096.1_Missense_Mutation_p.P601S|CSMD1_ENST00000542608.1_Missense_Mutation_p.P601S|CSMD1_ENST00000520002.1_Missense_Mutation_p.P602S Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 602 CUB 4. integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) TATTCCTCTGGATAATTTGGT 0.373000 9 25 0 0 1 0 0 NLGN3 54413 broad.mit.edu 37 X 70384117 70384117 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chrX:70384117C>T ENST00000374051.3 + 5 1114 c.792C>T c.(790-792)gtC>gtT p.V264V NLGN3_ENST00000476589.1_3'UTR|NLGN3_ENST00000358741.3_Silent_p.V284V|NLGN3_ENST00000536169.1_Silent_p.V244V NM_018977.3 NP_061850.2 Q9NZ94 NLGN3_HUMAN neuroligin 3 284 neuron cell-cell adhesion|positive regulation of synaptogenesis|receptor-mediated endocytosis|social behavior|synapse assembly cell surface|endocytic vesicle|integral to plasma membrane|synapse neurexin binding|receptor activity p.V264V(1) biliary_tract(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 37 Renal(35;0.156) GGATCACTGTCTTTGGCTCGG 0.582000 13 61 0 0 1 0 0 ANPEP 290 broad.mit.edu 37 15 90328652 90328652 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr15:90328652C>T ENST00000300060.6 - 21 3145 c.2832G>A c.(2830-2832)acG>acA p.T944T NM_001150.2 NP_001141.2 P15144 AMPN_HUMAN alanyl (membrane) aminopeptidase 944 Metalloprotease. angiogenesis|cell differentiation|interspecies interaction between organisms cytosol|ER-Golgi intermediate compartment|integral to plasma membrane aminopeptidase activity|metallopeptidase activity|receptor activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3) 57 Lung NSC(78;0.0221)|all_lung(78;0.0448) BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169) Ezetimibe(DB00973) TGTTGGCTTTCGTCTTCTCCA 0.552000 72 166 0 0 1 0 0 CADM1 23705 broad.mit.edu 37 11 115080294 115080294 + Splice_Site SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:115080294C>T ENST00000537058.1 - 8 1098 c.1078_splice c.e8+1 p.D360_splice CADM1_ENST00000537140.1_Intron|CADM1_ENST00000536727.1_Intron|CADM1_ENST00000542447.2_Intron|CADM1_ENST00000452722.2_Splice_Site_p.D360_splice|CADM1_ENST00000331581.6_Splice_Site_p.D360_splice Q9BY67 CADM1_HUMAN cell adhesion molecule 1 359 adherens junction organization|apoptosis|cell differentiation|cell junction assembly|cell recognition|detection of stimulus|heterophilic cell-cell adhesion|homophilic cell adhesion|multicellular organismal development|positive regulation of cytokine secretion|spermatogenesis|susceptibility to natural killer cell mediated cytotoxicity basolateral plasma membrane|cell-cell junction|integral to membrane PDZ domain binding|protein C-terminus binding|protein homodimerization activity|receptor binding cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(9)|ovary(2)|skin(1) 32 all_hematologic(175;0.0628) all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237) BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303) GATACCATACCTgtgatgatg 0.418000 48 39 0 0 1 0 0 MTUS2 23281 broad.mit.edu 37 13 29599316 29599316 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr13:29599316G>A ENST00000431530.3 + 1 569 c.511G>A c.(511-513)Gat>Aat p.D171N NM_001033602.2 NP_001028774.2 Q5JR59 MTUS2_HUMAN microtubule associated tumor suppressor candidate 2 161 cytoplasm|microtubule microtubule binding|protein homodimerization activity NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1) 20 TGTTCCCAAGGATAAACTGGC 0.517000 33 79 0 0 1 0 0 ZBTB40 9923 broad.mit.edu 37 1 22846693 22846693 + Silent SNP C C T rs138480920 TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:22846693C>T ENST00000404138.1 + 15 3484 c.2973C>T c.(2971-2973)tcC>tcT p.S991S ZBTB40_ENST00000374651.4_Silent_p.S879S|ZBTB40_ENST00000375647.4_Silent_p.S991S NM_001083621.1 NP_001077090.1 Q9NUA8 ZBT40_HUMAN zinc finger and BTB domain containing 40 991 bone mineralization|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 26 Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216) GTGCCCCGTCCATGCTGGAGC 0.607000 53 86 0 0 1 0 0 MEP1A 4224 broad.mit.edu 37 6 46793148 46793148 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:46793148C>T ENST00000230588.4 + 8 705 c.696C>T c.(694-696)atC>atT p.I232I NM_005588.2 NP_005579.2 Q16819 MEP1A_HUMAN meprin A, alpha (PABA peptide hydrolase) 232 Metalloprotease. digestion|proteolysis extracellular space|integral to plasma membrane|soluble fraction metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 42 Lung(136;0.192) CAGCCAAGATCCCTGAGTTTA 0.433000 27 80 0 0 1 0 0 COL6A5 256076 broad.mit.edu 37 3 130095494 130095494 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:130095494G>A ENST00000265379.6 + 3 976 c.482G>A c.(481-483)gGg>gAg p.G161E COL6A5_ENST00000432398.2_Missense_Mutation_p.G161E A8TX70 CO6A5_HUMAN collagen, type VI, alpha 5 161 Nonhelical region.|VWFA 1. axon guidance|cell adhesion collagen endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1) 44 CAGAAAGACGGGGTGAAAATT 0.512000 10 18 0 0 1 0 0 PLCB4 5332 broad.mit.edu 37 20 9288543 9288543 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr20:9288543G>A ENST00000378501.2 + 1 97 c.82G>A c.(82-84)Gag>Aag p.E28K PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000378493.1_Missense_Mutation_p.E28K|PLCB4_ENST00000378473.3_Missense_Mutation_p.E28K|PLCB4_ENST00000278655.4_Missense_Mutation_p.E28K|PLCB4_ENST00000334005.3_Missense_Mutation_p.E28K|PLCB4_ENST00000414679.2_Missense_Mutation_p.E28K NM_000933.3 NP_000924.3 Q15147 PLCB4_HUMAN phospholipase C, beta 4 28 intracellular signal transduction|lipid catabolic process cytosol calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1) 87 CAGATACGAGGAGGTAAAGAA 0.303000 12 32 0 0 1 0 0 REXO1L1 254958 broad.mit.edu 37 8 86574498 86574498 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:86574498G>A ENST00000379010.2 - 1 1228 c.1229C>T c.(1228-1230)tCc>tTc p.S410F NM_172239.4 NP_758439.4 Q8IX06 GOR_HUMAN REX1, RNA exonuclease 1 homolog (S. cerevisiae)-like 1 410 GOR1-125 epitope. cytoplasm|nucleus exonuclease activity|nucleic acid binding endometrium(1)|lung(4) 5 GACCCTACAGGAGGAGTCGCC 0.677000 6 50 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179438680 179438680 + Missense_Mutation SNP G G T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:179438680G>T ENST00000589042.1 - 326 72403 c.72179C>A c.(72178-72180)aCa>aAa p.T24060K TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.T15120K|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.T22419K|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.T21492K|TTN_ENST00000460472.2_Missense_Mutation_p.T14995K|TTN_ENST00000342175.6_Missense_Mutation_p.T15187K|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 22419 Fibronectin type-III 75. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) CCATTCCATTGTTGGAGGTGG 0.393000 5 68 0.184627 0.18469 1 1 0 KANK4 163782 broad.mit.edu 37 1 62732417 62732417 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:62732417G>A ENST00000371153.4 - 6 2684 c.2306C>T c.(2305-2307)aCa>aTa p.T769I KANK4_ENST00000354381.3_Missense_Mutation_p.T141I|KANK4_ENST00000371150.1_Missense_Mutation_p.T125I NM_181712.4 NP_859063.3 Q5T7N3 KANK4_HUMAN KN motif and ankyrin repeat domains 4 769 NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2) 81 GAGCTGGTCTGTGGTGGTCCC 0.423000 26 102 0 0 1 0 0 GPR98 84059 broad.mit.edu 37 5 89938750 89938750 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:89938750G>A ENST00000405460.2 + 13 2541 c.2445G>A c.(2443-2445)gaG>gaA p.E815E NM_032119.3 NP_115495.3 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 815 cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6) 269 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) ACCGAGTAGAGCCAAGAGATA 0.428000 44 115 0 0 1 0 0 CNGA3 1261 broad.mit.edu 37 2 98996811 98996811 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:98996811G>A ENST00000393504.1 + 4 806 c.389G>A c.(388-390)gGg>gAg p.G130E CNGA3_ENST00000409937.1_Missense_Mutation_p.G134E|CNGA3_ENST00000436404.2_Missense_Mutation_p.G130E|CNGA3_ENST00000272602.2_Missense_Mutation_p.G130E NM_001298.2 NP_001289.1 Q16281 CNGA3_HUMAN cyclic nucleotide gated channel alpha 3 130 signal transduction|visual perception integral to membrane cGMP binding p.G130E(1) breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3) 49 GCAGACAGAGGGAGAAGGTAA 0.572000 8 40 0 0 1 0 0 ARHGAP30 257106 broad.mit.edu 37 1 161017736 161017736 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:161017736C>T ENST00000368013.3 - 12 3395 c.3075G>A c.(3073-3075)ggG>ggA p.G1025G ARHGAP30_ENST00000368016.3_Silent_p.G814G|ARHGAP30_ENST00000368015.1_Silent_p.G848G NM_001025598.1|NM_181720.2 NP_001020769.1|NP_859071.2 Q7Z6I6 RHG30_HUMAN Rho GTPase activating protein 30 1025 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity breast(2)|cervix(3)|endometrium(4)|kidney(2)|large_intestine(4)|lung(6)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 37 all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00122) GGCAGTAATCCCCACCCTCAG 0.592000 7 143 0 0 1 0 0 PCDHGA9 56107 broad.mit.edu 37 5 140782547 140782547 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:140782547C>T ENST00000573521.1 + 1 28 c.28C>T c.(28-30)Cgc>Tgc p.R10C PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron NM_018921.2|NM_032089.1 NP_061744.1|NP_114478.1 endometrium(1)|kidney(1)|lung(3) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ATGCCAGCTCCGCGGAAGATT 0.537000 23 27 0 0 1 0 0 PAK7 57144 broad.mit.edu 37 20 9525066 9525066 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr20:9525066G>A ENST00000378429.3 - 9 2365 c.1819C>T c.(1819-1821)Ccc>Tcc p.P607S PAK7_ENST00000353224.5_Missense_Mutation_p.P607S|PAK7_ENST00000378423.1_Missense_Mutation_p.P607S NM_020341.3 NP_065074.1 Q9P286 PAK7_HUMAN p21 protein (Cdc42/Rac)-activated kinase 7 607 Protein kinase. ATP binding|protein binding|protein serine/threonine kinase activity NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3) 81 COAD - Colon adenocarcinoma(9;0.194) ATCCAGTAGGGAGTGCCAACC 0.498000 18 150 0 0 1 0 0 OLFM4 10562 broad.mit.edu 37 13 53624304 53624304 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr13:53624304G>A ENST00000219022.2 + 5 1009 c.931G>A c.(931-933)Gat>Aat p.D311N NM_006418.4 NP_006409.3 Q6UX06 OLFM4_HUMAN olfactomedin 4 311 Olfactomedin-like. cell adhesion extracellular space breast(2)|endometrium(4)|kidney(4)|large_intestine(5)|lung(20)|skin(3)|urinary_tract(1) 39 Breast(56;0.000776)|Lung NSC(96;0.000814)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173) GBM - Glioblastoma multiforme(99;3.13e-08) CACACTGGATGATTTGCTATT 0.428000 45 92 0 0 1 0 0 ACSM2A 123876 broad.mit.edu 37 16 20480946 20480946 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr16:20480946G>A ENST00000573854.1 + 4 615 c.501G>A c.(499-501)gtG>gtA p.V167V ACSM2A_ENST00000219054.6_Silent_p.V167V|ACSM2A_ENST00000396104.2_Silent_p.V167V|ACSM2A_ENST00000424070.1_Silent_p.V167V|ACSM2A_ENST00000417235.2_Silent_p.V88V|ACSM2A_ENST00000575558.1_3'UTR|ACSM2A_ENST00000536134.1_5'UTR|ACSM2A_ENST00000575690.1_Silent_p.V167V NM_001010845.2 NP_001010845.1 Q08AH3 ACS2A_HUMAN acyl-CoA synthetase medium-chain family member 2A 167 fatty acid metabolic process mitochondrial matrix ATP binding|butyrate-CoA ligase activity|metal ion binding breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1) 51 TCCAAGAAGTGGACACAGTGG 0.453000 74 153 0 0 1 0 0 CDH10 1008 broad.mit.edu 37 5 24509862 24509862 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:24509862G>A ENST00000264463.4 - 7 1576 c.1069C>T c.(1069-1071)Ccc>Tcc p.P357S NM_006727.3 NP_006718.2 Q9Y6N8 CAD10_HUMAN cadherin 10, type 2 (T2-cadherin) 357 Cadherin 3. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4) 185 STAD - Stomach adenocarcinoma(35;0.0556) TAAAAACGGGGATCTACATGG 0.368000 HNSCC(23;0.051) 35 33 0 0 1 0 0 WDR41 55255 broad.mit.edu 37 5 76736794 76736794 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:76736794G>A ENST00000296679.4 - 9 1101 c.726C>T c.(724-726)gtC>gtT p.V242V WDR41_ENST00000507029.1_Silent_p.V187V|WDR41_ENST00000414719.2_5'UTR NM_018268.2 NP_060738.2 Q9HAD4 WDR41_HUMAN WD repeat domain 41 242 NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5) 14 all_lung(232;0.000961)|Lung NSC(167;0.0011)|Ovarian(174;0.0105)|Prostate(461;0.059) OV - Ovarian serous cystadenocarcinoma(54;6.3e-50)|Epithelial(54;2.04e-44)|all cancers(79;6.84e-40) TCAGCTCTCCGACGTGGGAGC 0.453000 23 62 0 0 1 0 0 UNC13C 440279 broad.mit.edu 37 15 54305221 54305221 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr15:54305221G>A ENST00000545554.1 + 1 121 c.121G>A c.(121-123)Gat>Aat p.D41N UNC13C_ENST00000260323.11_Missense_Mutation_p.D41N|UNC13C_ENST00000537900.1_Missense_Mutation_p.D41N Q8NB66 UN13C_HUMAN unc-13 homolog C (C. elegans) 41 exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4) 121 GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124) GCAGAAAAAGGATCAAGACTT 0.368000 32 74 0 0 1 0 0 CACNA1D 776 broad.mit.edu 37 3 53736797 53736797 + Silent SNP G G A rs35434249 byFrequency TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:53736797G>A ENST00000288139.3 + 9 1468 c.1350G>A c.(1348-1350)ccG>ccA p.P450P CACNA1D_ENST00000422281.2_Silent_p.P450P|CACNA1D_ENST00000350061.5_Silent_p.P450P NM_000720.2 NP_000711.1 Q01668 CAC1D_HUMAN calcium channel, voltage-dependent, L type, alpha 1D subunit 450 axon guidance|energy reserve metabolic process|regulation of insulin secretion voltage-gated calcium channel complex voltage-gated calcium channel activity breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 90 BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613) Verapamil(DB00661) ACATCGATCCGGAGAATGAGG 0.547000 21 41 0 0 1 0 0 AFF1 4299 broad.mit.edu 37 4 87968546 87968546 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:87968546C>T ENST00000307808.6 + 3 1258 c.838C>T c.(838-840)Ccc>Tcc p.P280S AFF1_ENST00000395146.4_Missense_Mutation_p.P287S|AFF1_ENST00000544085.1_Intron NM_005935.2 NP_005926.1 P51825 AFF1_HUMAN AF4/FMR2 family, member 1 280 nucleus sequence-specific DNA binding transcription factor activity breast(1)|large_intestine(2) 3 Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000233) TCCCTCCCTCCCCTCAAAAAG 0.547000 87 181 0 0 1 0 0 NOVA1 4857 broad.mit.edu 37 14 26949293 26949293 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr14:26949293G>A ENST00000539517.2 - 3 654 c.337C>T c.(337-339)Cat>Tat p.H113Y NOVA1_ENST00000344429.5_Missense_Mutation_p.H113Y|NOVA1_ENST00000574031.1_Missense_Mutation_p.H113Y|NOVA1_ENST00000267422.7_5'UTR|NOVA1_ENST00000547619.1_Missense_Mutation_p.H113Y|NOVA1_ENST00000465357.2_Missense_Mutation_p.H113Y NM_002515.2 NP_002506.2 P51513 NOVA1_HUMAN neuro-oncological ventral antigen 1 116 KH 1. locomotory behavior|RNA splicing|synaptic transmission nucleus RNA binding breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 40 GBM - Glioblastoma multiforme(265;0.0135) ATGAATCCATGAACTGCATTC 0.438000 30 77 0 0 1 0 0 GYPA 2993 broad.mit.edu 37 4 145041668 145041668 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:145041668C>T ENST00000360771.4 - 2 226 c.111G>A c.(109-111)aaG>aaA p.K37K GYPB_ENST00000283126.7_Intron|RP11-673E1.4_ENST00000506982.1_RNA|GYPA_ENST00000512064.1_Silent_p.K37K|GYPA_ENST00000535709.1_Silent_p.K11K|GYPA_ENST00000324022.10_Intron|GYPA_ENST00000504786.1_Silent_p.K37K|GYPA_ENST00000503627.1_Silent_p.K37K|GYPA_ENST00000512789.1_Intron NM_002099.6 NP_002090.4 P02724 GLPA_HUMAN glycophorin A (MNS blood group) 37 interspecies interaction between organisms membrane fraction receptor activity central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(4)|skin(1) 10 all_hematologic(180;0.15) AGATGTAACTCTTTGTGACTG 0.358000 7 32 0 0 1 0 0 CILP 8483 broad.mit.edu 37 15 65496732 65496732 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr15:65496732G>A ENST00000261883.4 - 6 959 c.793C>T c.(793-795)Cct>Tct p.P265S NM_003613.3 NP_003604.3 O75339 CILP1_HUMAN cartilage intermediate layer protein, nucleotide pyrophosphohydrolase 265 negative regulation of insulin-like growth factor receptor signaling pathway extracellular matrix part|extracellular space|proteinaceous extracellular matrix breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1) 55 CACAAGCCAGGGATTCGGAAT 0.567000 61 117 0 0 1 0 0 OR3A3 8392 broad.mit.edu 37 17 3324477 3324477 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:3324477C>T ENST00000291231.1 + 1 616 c.616C>T c.(616-618)Ctg>Ttg p.L206L NM_012373.2 NP_036505.2 P47888 OR3A3_HUMAN olfactory receptor, family 3, subfamily A, member 3 206 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(1) 9 ACTCAATGAGCTGCTGCTCTT 0.552000 48 86 0 0 1 0 0 BTBD11 121551 broad.mit.edu 37 12 107713013 107713013 + Nonsense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:107713013G>A ENST00000280758.5 + 1 824 c.296G>A c.(295-297)tGg>tAg p.W99* BTBD11_ENST00000420571.2_Nonsense_Mutation_p.W99*|BTBD11_ENST00000490090.2_Nonsense_Mutation_p.W99* NM_001018072.1 NP_001018082.1 A6QL63 BTBDB_HUMAN BTB (POZ) domain containing 11 99 integral to membrane DNA binding NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 53 GAGGTCCCCTGGACTCTCCAG 0.711000 5 11 0 0 1 0 0 KMT2C 58508 broad.mit.edu 37 7 151877860 151877860 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:151877860G>A ENST00000355193.2 - 36 7303 c.7085C>T c.(7084-7086)tCa>tTa p.S2362L KMT2C_ENST00000262189.6_Missense_Mutation_p.S2362L lysine (K)-specific methyltransferase 2C AGTTACTCCTGAAGTTGGCAC 0.443000 5 129 0 0 1 0 0 SUPT6H 6830 broad.mit.edu 37 17 27028589 27028589 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:27028589C>T ENST00000314616.6 + 37 5410 c.5127C>T c.(5125-5127)acC>acT p.T1709T SUPT6H_ENST00000347486.4_Silent_p.T1709T NM_003170.3 NP_003161.2 Q7KZ85 SPT6H_HUMAN suppressor of Ty 6 homolog (S. cerevisiae) 1709 chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter nucleus hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 Lung NSC(42;0.00431) TCGAAAGCACCCCCATGTCCA 0.627000 32 81 0 0 1 0 0 NREP 9315 broad.mit.edu 37 5 111071141 111071141 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:111071141C>T ENST00000379671.3 - 4 331 c.67G>A c.(67-69)Gga>Aga p.G23R NREP_ENST00000419114.2_Missense_Mutation_p.G23R|NREP_ENST00000507742.1_5'UTR|NREP_ENST00000395634.3_Missense_Mutation_p.G67R|NREP_ENST00000508870.1_Missense_Mutation_p.G23R|NREP_ENST00000455559.2_Missense_Mutation_p.G23R|NREP_ENST00000515855.1_Missense_Mutation_p.G23R|NREP_ENST00000509427.1_Missense_Mutation_p.G23R|NREP_ENST00000257435.7_Missense_Mutation_p.G23R|NREP_ENST00000509025.1_Missense_Mutation_p.G23R|NREP_ENST00000447165.2_Missense_Mutation_p.G23R|NREP_ENST00000446294.2_Missense_Mutation_p.G23R|NREP_ENST00000453526.2_Missense_Mutation_p.G23R|NREP_ENST00000450761.2_Missense_Mutation_p.G23R|STARD4-AS1_ENST00000500779.2_RNA|NREP_ENST00000509979.1_Missense_Mutation_p.G23R NM_001142478.1 NP_001135950.1 Q16612 NP311_HUMAN neuronal regeneration related protein 23 cytoplasm GGAAGCCTTCCCTCCATGTCC 0.333000 37 75 0 0 1 0 0 C17orf77 146723 broad.mit.edu 37 17 72588211 72588211 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:72588211C>T ENST00000392620.1 + 3 388 c.26C>T c.(25-27)tCc>tTc p.S9F CD300LD_ENST00000375352.1_Intron|C17orf77_ENST00000328023.2_Missense_Mutation_p.S9F NM_152460.2 NP_689673.2 Q96MU5 CQ077_HUMAN chromosome 17 open reading frame 77 9 extracellular region breast(2)|large_intestine(2)|lung(5)|prostate(1)|stomach(1) 11 CTGTCATTTTCCCTGACATGT 0.468000 75 228 0 0 1 0 0 CXADR 1525 broad.mit.edu 37 21 18933792 18933792 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr21:18933792C>T ENST00000284878.7 + 6 1579 c.831C>T c.(829-831)atC>atT p.I277I CXADR_ENST00000356275.6_Intron|CXADR_ENST00000400165.1_Intron|CXADR_ENST00000400166.1_Intron|CXADR_ENST00000400169.1_Silent_p.I277I|CXADR_ENST00000306618.10_Silent_p.I236I NM_001338.4 NP_001329.1 P78310 CXAR_HUMAN coxsackie virus and adenovirus receptor 277 blood coagulation|cell adhesion|interspecies interaction between organisms|leukocyte migration|regulation of immune response adherens junction|basolateral plasma membrane|extracellular region|integral to plasma membrane|nucleus|tight junction receptor activity endometrium(2)|large_intestine(5)|lung(1)|ovary(1)|prostate(2) 11 Epithelial(23;0.000206)|all cancers(11;0.000302)|OV - Ovarian serous cystadenocarcinoma(11;0.0194)|Lung(58;0.0233)|COAD - Colon adenocarcinoma(22;0.0389)|Colorectal(24;0.0483)|LUSC - Lung squamous cell carcinoma(23;0.0782) ATCACGATATCAGGTAATTAA 0.363000 15 36 0 0 1 0 0 SLC17A3 10786 broad.mit.edu 37 6 25861906 25861906 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:25861906C>T ENST00000397060.4 - 5 680 c.571G>A c.(571-573)Gaa>Aaa p.E191K SLC17A3_ENST00000360657.3_Missense_Mutation_p.E113K|SLC17A3_ENST00000361703.6_Missense_Mutation_p.E113K NM_001098486.1 NP_001091956.1 O00476 NPT4_HUMAN solute carrier family 17 (organic anion transporter), member 3 113 glucose-6-phosphate transport|urate metabolic process apical plasma membrane|brush border membrane|endoplasmic reticulum membrane|integral to plasma membrane|perinuclear region of cytoplasm drug transmembrane transporter activity|efflux transmembrane transporter activity|organic anion transmembrane transporter activity|sodium:phosphate symporter activity|toxin transporter activity|urate transmembrane transporter activity|voltage-gated anion channel activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(10)|prostate(1) 20 CCCCACTTTTCCCAAATTGCA 0.403000 89 116 0 0 1 0 0 VAV3 10451 broad.mit.edu 37 1 108417537 108417537 + Missense_Mutation SNP G G A rs61761613 TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:108417537G>A ENST00000370056.4 - 2 581 c.307C>T c.(307-309)Cgt>Tgt p.R103C VAV3_ENST00000371846.4_Missense_Mutation_p.R38C|VAV3_ENST00000527011.1_Missense_Mutation_p.R103C NM_006113.4 NP_006104.4 Q9UKW4 VAV3_HUMAN vav 3 guanine nucleotide exchange factor 103 CH. angiogenesis|apoptosis|B cell receptor signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of B cell proliferation|regulation of Rho protein signal transduction|response to DNA damage stimulus|response to drug|small GTPase mediated signal transduction cytosol GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity NS(2)|breast(5)|endometrium(4)|kidney(2)|large_intestine(14)|lung(20)|ovary(6)|prostate(3)|stomach(1)|urinary_tract(1) 58 all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594) Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204) CCAAAGTCACGAACATCAAAC 0.358000 24 57 0 0 1 0 0 TNFAIP6 7130 broad.mit.edu 37 2 152226564 152226564 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:152226564C>T ENST00000243347.3 + 4 500 c.425C>T c.(424-426)cCa>cTa p.P142L NM_007115.3 NP_009046.2 P98066 TSG6_HUMAN tumor necrosis factor, alpha-induced protein 6 142 CUB. cell adhesion|cell-cell signaling|inflammatory response|signal transduction hyaluronic acid binding endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 13 BRCA - Breast invasive adenocarcinoma(221;0.131) TTTACAGATCCAAAGCAAATT 0.383000 48 135 0 0 1 0 0 CERS3 204219 broad.mit.edu 37 15 101041977 101041977 + Missense_Mutation SNP C C A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr15:101041977C>A ENST00000284382.4 - 4 501 c.78G>T c.(76-78)gaG>gaT p.E26D CERS3_ENST00000560944.1_Intron|CERS3_ENST00000538112.2_Missense_Mutation_p.E26D|CERS3_ENST00000394113.1_Missense_Mutation_p.E26D NM_178842.3 NP_849164.2 Q8IU89 CERS3_HUMAN ceramide synthase 3 26 endoplasmic reticulum membrane|integral to membrane|nuclear membrane sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity CATCGTGATCCTCAAGATCTG 0.373000 5 104 0.014758 0.014773 1 1 0 TCHHL1 126637 broad.mit.edu 37 1 152058083 152058083 + Missense_Mutation SNP T T A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:152058083T>A ENST00000368806.1 - 3 2139 c.2075A>T c.(2074-2076)aAg>aTg p.K692M NM_001008536.1 NP_001008536.1 Q5QJ38 TCHL1_HUMAN trichohyalin-like 1 692 calcium ion binding p.K692R(1) breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1) 60 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.246) GCTATCTCCCTTTCCAGGGAG 0.453000 5 338 0 0 1 0 0 FBXO40 51725 broad.mit.edu 37 3 121340633 121340633 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:121340633C>T ENST00000338040.4 + 3 771 c.357C>T c.(355-357)acC>acT p.T119T NM_016298.3 NP_057382.2 Q9UH90 FBX40_HUMAN F-box protein 40 119 muscle cell differentiation centrosome|nucleus ubiquitin-protein ligase activity|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(11)|lung(19)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 46 GBM - Glioblastoma multiforme(114;0.189) TGAAAGAGACCCCCAGTGAGG 0.537000 22 61 0 0 1 0 0 OR1C1 26188 broad.mit.edu 37 1 247920823 247920823 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:247920823C>T ENST00000408896.2 - 1 1159 c.886G>A c.(886-888)Gat>Aat p.D296N NM_012353.2 NP_036485.2 Q15619 OR1C1_HUMAN olfactory receptor, family 1, subfamily C, member 1 296 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(32)|skin(2)|upper_aerodigestive_tract(1) 46 all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858) all_cancers(173;0.0247) OV - Ovarian serous cystadenocarcinoma(106;0.0168) CTCTTCATATCCCTGTTCCTT 0.428000 88 76 0 0 1 0 0 TRBJ2-6 28623 broad.mit.edu 37 7 142494932 142494932 + RNA SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:142494932C>T ENST00000390418.1 + 0 10 GCTCTGGGGCCAACGTCCTGA 0.726000 21 84 0 0 1 0 0 CPT1A 1374 broad.mit.edu 37 11 68525198 68525198 + Splice_Site SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:68525198C>T ENST00000265641.5 - 19 2390 c.2235_splice c.e19-1 p.D746_splice CPT1A_ENST00000540367.1_Intron|CPT1A_ENST00000539743.1_Splice_Site_p.D746_splice|CPT1A_ENST00000376618.2_Intron NM_001876.3 NP_001867.2 P50416 CPT1A_HUMAN carnitine palmitoyltransferase 1A (liver) 746 carnitine shuttle|fatty acid beta-oxidation integral to membrane|mitochondrial outer membrane carnitine O-palmitoyltransferase activity NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 Esophageal squamous(3;3.28e-14) LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142) L-Carnitine(DB00583)|Perhexiline(DB01074) CGATGAGAATCCTTTCATGTA 0.373000 32 60 0 0 1 0 0 GLRA3 8001 broad.mit.edu 37 4 175598254 175598254 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:175598254G>A ENST00000274093.3 - 7 1404 c.902C>T c.(901-903)tCa>tTa p.S301L GLRA3_ENST00000340217.5_Missense_Mutation_p.S301L NM_006529.2 NP_006520.2 O75311 GLRA3_HUMAN glycine receptor, alpha 3 301 synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity endometrium(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1) 35 Prostate(90;0.00601)|Breast(14;0.0091)|Melanoma(52;0.00959)|Renal(120;0.0183)|all_neural(102;0.0891)|all_hematologic(60;0.107) all cancers(43;4.99e-18)|Epithelial(43;1.18e-16)|OV - Ovarian serous cystadenocarcinoma(60;5.88e-09)|STAD - Stomach adenocarcinoma(60;0.00442)|GBM - Glioblastoma multiforme(59;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0421) Glycine(DB00145) TCGTGATCCTGAACTCTGTGT 0.448000 5 58 0 0 1 0 0 SEMA5A 9037 broad.mit.edu 37 5 9052020 9052020 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:9052020C>T ENST00000382496.5 - 20 3475 c.2810G>A c.(2809-2811)aGc>aAc p.S937N NM_003966.2 NP_003957.2 Q13591 SEM5A_HUMAN sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A 937 TSP type-1 7. cell adhesion|cell-cell signaling integral to membrane|plasma membrane biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 81 ACACGGCCGGCTCTCCGTGGT 0.522000 18 40 0 0 1 0 0 HRASLS5 117245 broad.mit.edu 37 11 63233638 63233638 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:63233638C>T ENST00000540857.1 - 5 793 c.661G>A c.(661-663)Ggg>Agg p.G221R HRASLS5_ENST00000301790.4_Missense_Mutation_p.G231R|HRASLS5_ENST00000539221.1_Missense_Mutation_p.G231R NM_001146728.1|NM_001146729.1|NM_054108.3 NP_001140200.1|NP_001140201.1|NP_473449.1 Q96KN8 HRSL5_HUMAN HRAS-like suppressor family, member 5 231 endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1) 14 TCACAGTTCCCTTCAATCAGG 0.512000 32 77 0 0 1 0 0 IL12RB1 3594 broad.mit.edu 37 19 18170728 18170728 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:18170728C>T ENST00000600835.1 - 17 2262 c.1959G>A c.(1957-1959)gaG>gaA p.E653E IL12RB1_ENST00000593993.1_Silent_p.E653E|IL12RB1_ENST00000430026.2_Silent_p.E653E P42701 I12R1_HUMAN interleukin 12 receptor, beta 1 653 cellular response to interferon-gamma|interleukin-12-mediated signaling pathway|positive regulation of activated T cell proliferation|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of memory T cell differentiation|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response interleukin-12 receptor complex|interleukin-23 receptor complex cytokine receptor activity endometrium(1)|kidney(1)|lung(3)|pancreas(1)|skin(2) 8 TGTCTCCATCCTCCAAGGACA 0.637000 5 14 0 0 1 0 0 PCDHGB3 56102 broad.mit.edu 37 5 140752136 140752136 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:140752136C>T ENST00000576222.1 + 1 2306 c.2175C>T c.(2173-2175)ggC>ggT p.G725G PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron NM_018924.2|NM_032097.1 NP_061747.1|NP_115268.1 endometrium(1)|kidney(1)|lung(3) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CCACTGAGGGCTACTTTCAGC 0.562000 30 64 0 0 1 0 0 NBAS 51594 broad.mit.edu 37 2 15417144 15417144 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:15417144G>A ENST00000281513.5 - 43 5245 c.5220C>T c.(5218-5220)caC>caT p.H1740H NBAS_ENST00000441750.1_Silent_p.H1620H NM_015909.3 NP_056993.2 A2RRP1 NBAS_HUMAN neuroblastoma amplified sequence 1740 NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3) 112 CCATGTGCTGGTGAAAGGCTT 0.408000 28 49 0 0 1 0 0 DBH 1621 broad.mit.edu 37 9 136508538 136508538 + Missense_Mutation SNP G G A rs5323 TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:136508538G>A ENST00000393056.2 + 4 760 c.748G>A c.(748-750)Gag>Aag p.E250K NM_000787.3 NP_000778.3 P09172 DOPO_HUMAN dopamine beta-hydroxylase (dopamine beta-monooxygenase) 250 E -> Q (in dbSNP:rs5323). hormone biosynthetic process chromaffin granule lumen|chromaffin granule membrane|extracellular region|integral to membrane|membrane fraction|soluble fraction|transport vesicle membrane dopamine beta-monooxygenase activity|L-ascorbic acid binding central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2) 36 OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05) Dopamine(DB00988)|Vitamin C(DB00126) CTCACAGTACGAGCCCATCGT 0.652000 33 81 0 0 1 0 0 P2RY8 286530 broad.mit.edu 37 X 1584386 1584386 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chrX:1584386C>T ENST00000381297.4 - 2 1276 c.1066G>A c.(1066-1068)Gag>Aag p.E356K NM_178129.4 NP_835230.1 Q86VZ1 P2RY8_HUMAN purinergic receptor P2Y, G-protein coupled, 8 356 integral to membrane|plasma membrane purinergic nucleotide receptor activity, G-protein coupled endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(13)|prostate(1) 23 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) AACACACTCTCCTGCCTCTGG 0.701000 T CRLF2 """B-ALL, Downs associated ALL""" 75 54 0 0 1 0 0 NLGN4X 57502 broad.mit.edu 37 X 5821806 5821806 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chrX:5821806C>T ENST00000381095.3 - 5 1540 c.913G>A c.(913-915)Ggc>Agc p.G305S NLGN4X_ENST00000538097.1_Missense_Mutation_p.G305S|NLGN4X_ENST00000381093.2_Missense_Mutation_p.G325S|NLGN4X_ENST00000275857.6_Missense_Mutation_p.G305S|NLGN4X_ENST00000381092.1_Missense_Mutation_p.G305S NM_181332.1 NP_851849.1 Q8N0W4 NLGNX_HUMAN neuroligin 4, X-linked 305 brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior cell surface|dendrite|integral to plasma membrane|synapse chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1) 81 ATGTTGCAGCCGACCTTGTCT 0.572000 13 113 0 0 1 0 0 GRID1 2894 broad.mit.edu 37 10 87484341 87484341 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:87484341C>T ENST00000327946.7 - 11 1711 c.1626G>A c.(1624-1626)ggG>ggA p.G542G GRID1_ENST00000536331.1_Silent_p.G113G NM_017551.2 NP_060021.1 Q9ULK0 GRID1_HUMAN glutamate receptor, ionotropic, delta 1 542 cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5) 106 L-Glutamic Acid(DB00142) TAATTAGAATCCCCACTGAAT 0.522000 Multiple Myeloma(13;0.14) 36 59 0 0 1 0 0 MTNR1B 4544 broad.mit.edu 37 11 92715125 92715125 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:92715125G>A ENST00000257068.2 + 2 742 c.736G>A c.(736-738)Gac>Aac p.D246N NM_005959.3 NP_005950.1 P49286 MTR1B_HUMAN melatonin receptor 1B 246 G-protein signaling, coupled to cyclic nucleotide second messenger|glucose homeostasis|regulation of insulin secretion|synaptic transmission integral to plasma membrane melatonin receptor activity central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1) 33 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824) Ramelteon(DB00980) GAAGCCCAGCGACTTGCGGAG 0.577000 49 46 0 0 1 0 0 SLC35D1 23169 broad.mit.edu 37 1 67487246 67487246 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:67487246G>A ENST00000235345.5 - 9 854 c.769C>T c.(769-771)Ctg>Ttg p.L257L SLC35D1_ENST00000506472.2_Silent_p.L178L NM_015139.2 NP_055954.1 Q9NTN3 S35D1_HUMAN solute carrier family 35 (UDP-GlcA/UDP-GalNAc transporter), member D1 257 chondroitin sulfate biosynthetic process|UDP-glucuronate biosynthetic process|xenobiotic metabolic process integral to endoplasmic reticulum membrane UDP-glucuronic acid transmembrane transporter activity|UDP-N-acetylgalactosamine transmembrane transporter activity endometrium(2)|kidney(1)|large_intestine(3)|lung(4) 10 Lorazepam(DB00186) GTGAACTGCAGAAGAAAGAGG 0.433000 37 85 0 0 1 0 0 NMD3 51068 broad.mit.edu 37 3 160945120 160945120 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:160945120C>T ENST00000460469.1 + 3 720 c.265C>T c.(265-267)Cct>Tct p.P89S NMD3_ENST00000478160.1_3'UTR|NMD3_ENST00000472947.1_Missense_Mutation_p.P89S|NMD3_ENST00000351193.2_Missense_Mutation_p.P89S Q96D46 NMD3_HUMAN NMD3 ribosome export adaptor 89 protein transport cytoplasm|nucleolus|nucleoplasm cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(10)|ovary(1)|skin(1)|urinary_tract(2) 25 Lung(72;0.00111)|LUSC - Lung squamous cell carcinoma(72;0.00156) AATCAAAGCCCCTCTGAGTAA 0.343000 25 54 0 0 1 0 0 SCN7A 6332 broad.mit.edu 37 2 167328941 167328941 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:167328941C>T ENST00000409855.1 - 5 584 c.458G>A c.(457-459)gGa>gAa p.G153E NM_002976.3 NP_002967.2 Q01118 SCN7A_HUMAN sodium channel, voltage-gated, type VII, alpha subunit 153 muscle contraction voltage-gated sodium channel complex voltage-gated sodium channel activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1) 44 TGTGTAAATTCCAAGCAAAGT 0.358000 6 19 0 0 1 0 0 SH2D3C 10044 broad.mit.edu 37 9 130509499 130509499 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:130509499C>T ENST00000314830.8 - 6 1304 c.1191G>A c.(1189-1191)atG>atA p.M397I SH2D3C_ENST00000420366.1_Missense_Mutation_p.M239I|SH2D3C_ENST00000373276.3_Missense_Mutation_p.M329I|SH2D3C_ENST00000471939.1_Intron|SH2D3C_ENST00000429553.1_Missense_Mutation_p.M43I|SH2D3C_ENST00000373277.4_Missense_Mutation_p.M240I|SH2D3C_ENST00000373274.3_Missense_Mutation_p.M237I NM_170600.2 NP_733745.1 Q8N5H7 SH2D3_HUMAN SH2 domain containing 3C 397 JNK cascade|small GTPase mediated signal transduction cytoplasm|membrane guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 GGATCTGGTCCATGCTGAGGG 0.662000 32 61 0 0 1 0 0 TF 7018 broad.mit.edu 37 3 133476661 133476661 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:133476661C>T ENST00000402696.3 + 8 1404 c.919C>T c.(919-921)Cct>Tct p.P307S TF_ENST00000264998.3_Missense_Mutation_p.P180S NM_001063.3 NP_001054.1 P02787 TRFE_HUMAN transferrin 307 Transferrin-like 1. cellular iron ion homeostasis|platelet activation|platelet degranulation|transferrin transport|transmembrane transport apical plasma membrane|basal plasma membrane|coated pit|early endosome|endocytic vesicle|endosome membrane|extracellular region|late endosome|perinuclear region of cytoplasm|recycling endosome|stored secretory granule ferric iron binding NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(7)|large_intestine(13)|liver(2)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 49 Aluminium(DB01370)|Bismuth(DB01402)|Iron Dextran(DB00893) ATTCAGCTCTCCTCATGGGAA 0.453000 34 76 0 0 1 0 0 HAVCR1 26762 broad.mit.edu 37 5 156482224 156482224 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:156482224C>T ENST00000339252.3 - 2 899 c.367G>A c.(367-369)Gag>Aag p.E123K HAVCR1_ENST00000544197.1_Missense_Mutation_p.E123K|HAVCR1_ENST00000523175.1_Missense_Mutation_p.E123K|HAVCR1_ENST00000425854.1_Missense_Mutation_p.E123K|HAVCR1_ENST00000522693.1_Missense_Mutation_p.E123K NM_012206.2 NP_036338.2 Q96D42 HAVR1_HUMAN hepatitis A virus cellular receptor 1 123 interspecies interaction between organisms integral to membrane receptor activity endometrium(3)|large_intestine(2)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 28 Renal(175;0.00488) Medulloblastoma(196;0.0354)|all_neural(177;0.0999) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) GGCACAATCTCCAATGATACG 0.378000 26 63 0 0 1 0 0 ANKRD33 341405 broad.mit.edu 37 12 52284779 52284779 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:52284779C>T ENST00000301190.6 + 5 1276 c.1049C>T c.(1048-1050)cCg>cTg p.P350L ANKRD33_ENST00000538991.1_Intron|ANKRD33_ENST00000547119.1_3'UTR|ANKRD33_ENST00000340970.4_Intron NM_001130015.1|NM_182608.3 NP_001123487.1|NP_872414.3 Q7Z3H0 ANR33_HUMAN ankyrin repeat domain 33 225 endometrium(2)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|skin(1)|urinary_tract(1) 22 BRCA - Breast invasive adenocarcinoma(357;0.0969) GGTACTGCCCCGCCCCCTCCC 0.652000 17 29 0 0 1 0 0 PLXNA4 91584 broad.mit.edu 37 7 131883326 131883326 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:131883326C>T ENST00000359827.3 - 13 3618 c.2656G>A c.(2656-2658)Gaa>Aaa p.E886K PLXNA4_ENST00000321063.4_Missense_Mutation_p.E886K Q9HCM2 PLXA4_HUMAN plexin A4 886 IPT/TIG 1. integral to membrane|intracellular|plasma membrane NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1) 45 TCGCGAAATTCCAGGCCCAGG 0.552000 42 120 0 0 1 0 0 TLN1 7094 broad.mit.edu 37 9 35707817 35707817 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:35707817G>A ENST00000314888.9 - 35 4896 c.4543C>T c.(4543-4545)Cgt>Tgt p.R1515C TLN1_ENST00000464379.1_5'UTR|TLN1_ENST00000540444.1_Missense_Mutation_p.R1515C NM_006289.3 NP_006280.3 Q9Y490 TLN1_HUMAN talin 1 1515 Interaction with SYNM. axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6) 85 all_epithelial(49;0.167) Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194) TTGGTGGTACGGGCAGAAGCC 0.542000 17 253 0 0 1 0 0 C1orf173 127254 broad.mit.edu 37 1 75078435 75078435 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:75078435G>A ENST00000326665.5 - 9 1277 c.1059C>T c.(1057-1059)ttC>ttT p.F353F C1orf173_ENST00000420661.2_Silent_p.F156F|RP4-612J11.1_ENST00000416017.1_RNA NM_001002912.4 NP_001002912.4 Q5RHP9 CA173_HUMAN chromosome 1 open reading frame 173 353 NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5) 184 TCCCATTCAGGAAAAAGGTGA 0.423000 27 65 0 0 1 0 0 KIF2B 84643 broad.mit.edu 37 17 51902082 51902082 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:51902082G>A ENST00000268919.4 + 1 1844 c.1688G>A c.(1687-1689)aGg>aAg p.R563K NM_032559.4 NP_115948.4 Q8N4N8 KIF2B_HUMAN kinesin family member 2B 563 blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle ATP binding|microtubule motor activity NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 104 GAGGCACCAAGGATGTTAAAA 0.378000 29 86 0 0 1 0 0 BNC1 646 broad.mit.edu 37 15 83935642 83935642 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr15:83935642G>A ENST00000345382.2 - 3 466 c.381C>T c.(379-381)atC>atT p.I127I RP11-382A20.4_ENST00000565495.1_RNA|BNC1_ENST00000569704.1_Silent_p.I120I NM_001717.3 NP_001708.3 Q01954 BNC1_HUMAN basonuclin 1 127 epidermis development|positive regulation of cell proliferation cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1) 56 AGGCATGGAGGATCTGGAGAA 0.498000 52 101 0 0 1 0 0 LBR 3930 broad.mit.edu 37 1 225611622 225611622 + Missense_Mutation SNP A A C TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:225611622A>C ENST00000338179.2 - 2 281 c.156T>G c.(154-156)aaT>aaG p.N52K LBR_ENST00000272163.4_Missense_Mutation_p.N52K NM_194442.2 NP_919424.1 Q14739 LBR_HUMAN lamin B receptor 52 Nucleoplasmic (Potential). cholesterol biosynthetic process integral to nuclear inner membrane chromo shadow domain binding|delta14-sterol reductase activity|DNA binding|lamin binding|receptor activity breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 22 Breast(184;0.165) GBM - Glioblastoma multiforme(131;0.117) CCTTAATATCATTCTCTTTCA 0.383000 120 366 0 0 1 0 0 OR5AC2 81050 broad.mit.edu 37 3 97806208 97806208 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:97806208C>T ENST00000358642.2 + 1 192 c.192C>T c.(190-192)ttC>ttT p.F64F NM_054106.1 NP_473447.1 Q9NZP5 O5AC2_HUMAN olfactory receptor, family 5, subfamily AC, member 2 64 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1) 28 TGTACTTATTCCTTGGTGGTT 0.433000 67 193 0 0 1 0 0 MGA 23269 broad.mit.edu 37 15 42058846 42058846 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr15:42058846C>T ENST00000219905.7 + 24 8747 c.8566C>T c.(8566-8568)Cca>Tca p.P2856S MGA_ENST00000566586.1_Missense_Mutation_p.P2647S|MGA_ENST00000545763.1_Missense_Mutation_p.P2647S|MGA_ENST00000389936.4_Missense_Mutation_p.P2817S|MGA_ENST00000570161.1_Missense_Mutation_p.P2856S NM_001164273.1 NP_001157745.1 Q8IWI9 MGAP_HUMAN MGA, MAX dimerization protein 2817 MLL1 complex DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238) OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235) TACAGAGTTCCCAGGGGATGC 0.468000 52 114 0 0 1 0 0 RYR2 6262 broad.mit.edu 37 1 237550652 237550652 + Silent SNP A A T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:237550652A>T ENST00000366574.2 + 9 965 c.648A>T c.(646-648)ccA>ccT p.P216P RYR2_ENST00000360064.6_Silent_p.P214P|RYR2_ENST00000542537.1_Silent_p.P200P NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 216 MIR 2. cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) GCGTGGCCCCAATCAGCTCAG 0.502000 14 186 0 0 1 0 0 MYO5C 55930 broad.mit.edu 37 15 52497133 52497133 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr15:52497133G>A ENST00000261839.7 - 38 4910 c.4749C>T c.(4747-4749)atC>atT p.I1583I RP11-430B1.2_ENST00000560518.1_lincRNA NM_018728.3 NP_061198.2 Q9NQX4 MYO5C_HUMAN myosin VC 1583 Dilute. myosin complex actin binding|ATP binding|calmodulin binding|motor activity breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 66 all cancers(107;0.0137) TGACCGCCCCGATCAAGAAGA 0.582000 25 39 0 0 1 0 0 JPH2 57158 broad.mit.edu 37 20 42789028 42789028 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr20:42789028G>A ENST00000372980.3 - 2 1271 c.399C>T c.(397-399)ttC>ttT p.F133F NM_020433.4 NP_065166.2 Q9BR39 JPH2_HUMAN junctophilin 2 133 Gly-rich. calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(19)|prostate(1)|upper_aerodigestive_tract(1) 32 Myeloproliferative disorder(115;0.0122) COAD - Colon adenocarcinoma(18;0.00189) TGCCGTTGGTGAACTGGCCTT 0.716000 12 18 0 0 1 0 0 CDH18 1016 broad.mit.edu 37 5 19612666 19612666 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:19612666C>T ENST00000507958.1 - 8 1678 c.688G>A c.(688-690)Gaa>Aaa p.E230K CDH18_ENST00000506372.1_Missense_Mutation_p.E230K|CDH18_ENST00000274170.4_Missense_Mutation_p.E230K|CDH18_ENST00000502796.1_Missense_Mutation_p.E230K|CDH18_ENST00000511273.1_Missense_Mutation_p.E230K|CDH18_ENST00000382275.1_Missense_Mutation_p.E230K Q13634 CAD18_HUMAN cadherin 18, type 2 230 Cadherin 2. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1) 138 Lung NSC(1;0.00734)|all_lung(1;0.0197) GAGTAATGTTCTCTGGCTTCT 0.388000 17 63 0 0 1 0 0 FRAS1 80144 broad.mit.edu 37 4 79437143 79437143 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:79437143G>A ENST00000264895.6 + 66 10805 c.10365G>A c.(10363-10365)ggG>ggA p.G3455G NM_025074.6 NP_079350.5 Q86XX4 FRAS1_HUMAN Fraser syndrome 1 3450 cell communication integral to membrane|plasma membrane metal ion binding breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4) 103 ACGTCTGTGGGGGCTCTGTAA 0.527000 17 26 0 0 1 0 0 LOC645752 645752 broad.mit.edu 37 15 78211644 78211644 + RNA SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr15:78211644G>A ENST00000565869.1 + 0 111 RP11-114H24.2_ENST00000567226.1_RNA GGGGCGCCAGGGATAGGGGCT 0.522000 40 67 0 0 1 0 0 GNAS 2778 broad.mit.edu 37 20 57415781 57415781 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr20:57415781C>T ENST00000313949.7 + 1 1009 c.620C>T c.(619-621)tCg>tTg p.S207L GNAS-AS1_ENST00000443966.1_RNA|GNAS-AS1_ENST00000598163.1_RNA|GNAS_ENST00000371075.3_Missense_Mutation_p.S207L|GNAS_ENST00000371098.2_Missense_Mutation_p.S207L|GNAS-AS1_ENST00000424094.2_RNA P63092 GNAS2_HUMAN GNAS complex locus 329 activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1) 441 all_lung(29;0.0104) BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109) CCCGAAGAGTCGAAGGAGCCC 0.662000 Mis pituitary adenoma """McCune-Albright syndrome; pseudohypoparathyroidism, type IA""" TSP Lung(22;0.16) 18 14 0 0 1 0 0 ANXA3 306 broad.mit.edu 37 4 79517019 79517019 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:79517019G>A ENST00000264908.6 + 9 991 c.612G>A c.(610-612)agG>agA p.R204R ANXA3_ENST00000503570.2_Silent_p.R165R|ANXA3_ENST00000512884.1_Silent_p.R165R NM_005139.2 NP_005130.1 P12429 ANXA3_HUMAN annexin A3 204 defense response to bacterium|neutrophil degranulation|phagocytosis|positive regulation of angiogenesis|positive regulation of endothelial cell migration|positive regulation of sequence-specific DNA binding transcription factor activity phagocytic vesicle membrane|plasma membrane|specific granule calcium ion binding|calcium-dependent phospholipid binding|phospholipase A2 inhibitor activity NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 15 TGTGTTTAAGGAGCTTTCCTC 0.338000 10 22 0 0 1 0 0 CHCHD1 118487 broad.mit.edu 37 10 75542890 75542890 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:75542890C>T ENST00000372833.5 + 3 315 c.302C>T c.(301-303)cCa>cTa p.P101L CHCHD1_ENST00000372837.3_3'UTR NM_203298.2 NP_976043.1 Q96BP2 CHCH1_HUMAN coiled-coil-helix-coiled-coil-helix domain containing 1 101 nucleus breast(1) 1 Prostate(51;0.0112) AGTTTACTTCCAAATAAATTG 0.373000 40 82 0 0 1 0 0 SIM2 6493 broad.mit.edu 37 21 38103428 38103428 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr21:38103428C>T ENST00000290399.6 + 7 1439 c.826C>T c.(826-828)Cac>Tac p.H276Y SIM2_ENST00000430056.3_Missense_Mutation_p.H276Y NM_005069.3 NP_005060.1 Q14190 SIM2_HUMAN single-minded family bHLH transcription factor 2 276 PAS 2. cell differentiation|nervous system development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(6)|prostate(1)|skin(2) 16 CGACGTGTTCCACCTCCGCTA 0.667000 21 57 0 0 1 0 0 ZNF775 285971 broad.mit.edu 37 7 150094453 150094453 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:150094453C>T ENST00000329630.5 + 3 991 c.884C>T c.(883-885)tCg>tTg p.S295L NM_173680.3 NP_775951.2 Q96BV0 ZN775_HUMAN zinc finger protein 775 295 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(7)|skin(1) 11 Ovarian(565;0.183)|Melanoma(164;0.226) OV - Ovarian serous cystadenocarcinoma(82;0.0173) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) TGGTGGTCGTCGCTGAACATC 0.711000 16 92 0 0 1 0 0 BTN3A3 10384 broad.mit.edu 37 6 26452532 26452532 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:26452532G>A ENST00000244519.2 + 11 1891 c.1648G>A c.(1648-1650)Gaa>Aaa p.E550K BTN3A3_ENST00000339789.4_Missense_Mutation_p.E508K|BTN3A3_ENST00000361232.3_Missense_Mutation_p.E501K NM_006994.4 NP_008925.1 O00478 BT3A3_HUMAN butyrophilin, subfamily 3, member A3 550 integral to membrane cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 30 GCCTCAGGCTGAAGTAACATC 0.547000 19 71 0 0 1 0 0 ECE1 1889 broad.mit.edu 37 1 21562382 21562382 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:21562382G>A ENST00000415912.2 - 13 1604 c.1479C>T c.(1477-1479)ttC>ttT p.F493F ECE1_ENST00000374893.6_Silent_p.F509F|ECE1_ENST00000357071.4_Silent_p.F497F|ECE1_ENST00000436918.2_Silent_p.F509F|ECE1_ENST00000264205.6_Silent_p.F506F NM_001113348.1 NP_001106819.1 P42892 ECE1_HUMAN endothelin converting enzyme 1 509 bradykinin catabolic process|calcitonin catabolic process|ear development|embryonic digit morphogenesis|endothelin maturation|heart development|positive regulation of receptor recycling|substance P catabolic process early endosome|external side of plasma membrane|integral to membrane|intrinsic to endosome membrane|membrane fraction|perinuclear region of cytoplasm|plasma membrane|Weibel-Palade body metal ion binding|metalloendopeptidase activity|protein homodimerization activity endometrium(5)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1) 25 Lung NSC(340;1.14e-05)|all_lung(284;1.23e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00147)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0183)|OV - Ovarian serous cystadenocarcinoma(117;4.83e-27)|COAD - Colon adenocarcinoma(152;1.36e-06)|GBM - Glioblastoma multiforme(114;1.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000162)|STAD - Stomach adenocarcinoma(196;0.00326)|KIRC - Kidney renal clear cell carcinoma(1967;0.00755)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.206) GATCCATGATGAAGTTGGGGT 0.552000 65 134 0 0 1 0 0 PLA2G3 50487 broad.mit.edu 37 22 31531867 31531867 + Nonsense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr22:31531867G>A ENST00000215885.3 - 7 1624 c.1372C>T c.(1372-1374)Cag>Tag p.Q458* NM_015715.3 NP_056530.2 Q9NZ20 PA2G3_HUMAN phospholipase A2, group III 458 cilium morphogenesis|lipid catabolic process|phospholipid metabolic process centriole|extracellular space|plasma membrane calcium ion binding|calcium-dependent phospholipase A2 activity large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1) 18 CGCCTCTGCTGAAGCCTCCGC 0.587000 54 105 0 0 1 0 0 DST 667 broad.mit.edu 37 6 56471535 56471535 + Missense_Mutation SNP C C A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:56471535C>A ENST00000370754.5 - 39 7791 c.7792G>T c.(7792-7794)Gat>Tat p.D2598Y DST_ENST00000446842.2_Missense_Mutation_p.D2094Y|DST_ENST00000370788.2_Intron|DST_ENST00000361203.3_Missense_Mutation_p.D2420Y|DST_ENST00000370769.4_Missense_Mutation_p.D2420Y|DST_ENST00000312431.6_Missense_Mutation_p.D2420Y|DST_ENST00000421834.2_Intron|DST_ENST00000244364.6_Intron Q03001 DYST_HUMAN dystonin 2420 Poly-Asp. cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 105 Lung NSC(77;0.103) LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956) TCACGATCATCACCATCAAGA 0.413000 92 88 4.85238e-36 4.9116e-36 1 1 0 SLC9C1 285335 broad.mit.edu 37 3 111940000 111940000 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:111940000C>T ENST00000305815.5 - 14 1897 c.1645G>A c.(1645-1647)Gaa>Aaa p.E549K SLC9C1_ENST00000487372.1_Missense_Mutation_p.E501K NM_183061.1 NP_898884.1 Q4G0N8 S9A10_HUMAN solute carrier family 9, subfamily C (Na+-transporting carboxylic acid decarboxylase), member 1 549 cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis cilium|flagellar membrane|integral to membrane solute:hydrogen antiporter activity CCAAAACTTTCTGCTGCACCA 0.388000 26 47 0 0 1 0 0 TRIM9 114088 broad.mit.edu 37 14 51446075 51446075 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr14:51446075G>A ENST00000338969.5 - 12 2732 c.2343C>T c.(2341-2343)agC>agT p.S781S TRIM9_ENST00000298355.3_Intron Q9C026 TRIM9_HUMAN tripartite motif containing 9 0 proteasomal ubiquitin-dependent protein catabolic process cell junction|cytoskeleton|dendrite|synaptic vesicle protein homodimerization activity|ubiquitin-protein ligase activity|zinc ion binding breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 all_epithelial(31;0.00418)|Breast(41;0.148) GCCAGCAACAGCTGTTTAACC 0.557000 41 73 0 0 1 0 0 DMXL1 1657 broad.mit.edu 37 5 118454665 118454665 + Missense_Mutation SNP C C A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:118454665C>A ENST00000311085.8 + 8 979 c.899C>A c.(898-900)gCt>gAt p.A300D DMXL1_ENST00000539542.1_Missense_Mutation_p.A300D NM_005509.4 NP_005500.4 Q9Y485 DMXL1_HUMAN Dmx-like 1 300 breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1) 86 all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231) OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243) AAGAGAAATGCTTCCAGTAAA 0.333000 22 76 2.21704e-12 2.23277e-12 1 1 0 PLB1 151056 broad.mit.edu 37 2 28719005 28719005 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:28719005C>T ENST00000422425.2 + 1 68 c.24C>T c.(22-24)ttC>ttT p.F8F PLB1_ENST00000327757.5_Silent_p.F8F NM_001170585.1 NP_001164056.1 Q6P1J6 PLB1_HUMAN phospholipase B1 8 lipid catabolic process|retinoid metabolic process|steroid metabolic process apical plasma membrane|integral to membrane lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2) 69 Acute lymphoblastic leukemia(172;0.155) CAGGCATTTTCCTCCTGGAGC 0.597000 10 162 0 0 1 0 0 NXN 64359 broad.mit.edu 37 17 882907 882907 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:882907G>A ENST00000336868.3 - 1 103 c.12C>T c.(10-12)ttC>ttT p.F4F NM_022463.4 NP_071908.2 Q6DKJ4 NXN_HUMAN nucleoredoxin 4 cell differentiation|cell redox homeostasis|multicellular organismal development|Wnt receptor signaling pathway cytosol|nucleus protein-disulfide reductase activity breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|ovary(2)|pancreas(1)|prostate(1) 13 UCEC - Uterine corpus endometrioid carcinoma (25;0.0237) GCTCCTCCAGGAAGCCCGACA 0.761000 7 8 0 0 1 0 0 GPR84 53831 broad.mit.edu 37 12 54757016 54757016 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:54757016C>T ENST00000551809.1 - 1 1255 c.620G>A c.(619-621)cGa>cAa p.R207Q RP11-753H16.5_ENST00000552785.1_RNA|RP11-753H16.3_ENST00000550474.1_RNA|GPR84_ENST00000267015.3_Missense_Mutation_p.R207Q Q9NQS5 GPR84_HUMAN G protein-coupled receptor 84 207 integral to membrane|plasma membrane G-protein coupled receptor activity NS(1)|breast(2)|kidney(2)|large_intestine(6)|lung(5)|skin(1)|urinary_tract(1) 18 CTGTGCTGCTCGTTTGACCTG 0.567000 56 163 0 0 1 0 0 TRPV5 56302 broad.mit.edu 37 7 142606661 142606661 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:142606661G>A ENST00000265310.1 - 14 2238 c.1890C>T c.(1888-1890)ttC>ttT p.F630F NM_019841.4 NP_062815.2 Q9NQA5 TRPV5_HUMAN transient receptor potential cation channel, subfamily V, member 5 630 protein tetramerization apical plasma membrane|integral to plasma membrane calcium channel activity NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 67 Melanoma(164;0.059) CTCACCGCAGGAACCAGCGGT 0.617000 26 81 0 0 1 0 0 GPR116 221395 broad.mit.edu 37 6 46826469 46826469 + Silent SNP G G A rs151037028 TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:46826469G>A ENST00000283296.7 - 17 3459 c.3171C>T c.(3169-3171)atC>atT p.I1057I GPR116_ENST00000456426.2_Silent_p.I915I|GPR116_ENST00000362015.4_Silent_p.I1057I|GPR116_ENST00000265417.7_Silent_p.I1057I|GPR116_ENST00000545669.1_Silent_p.I486I NM_001098518.1 NP_001091988.1 Q8IZF2 GP116_HUMAN G protein-coupled receptor 116 1057 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity p.I1057I(2) breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 59 Lung(136;0.192) GGGAGGCAGCGATATTCACTA 0.537000 9 123 0 0 1 0 0 ZNF577 84765 broad.mit.edu 37 19 52380537 52380537 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:52380537G>A ENST00000420592.1 - 5 1614 c.281C>T c.(280-282)cCa>cTa p.P94L ZNF577_ENST00000412216.1_Missense_Mutation_p.P94L|ZNF577_ENST00000301399.5_Missense_Mutation_p.P94L|ZNF577_ENST00000451628.2_Missense_Mutation_p.P94L|ZNF577_ENST00000485702.1_5'UTR Q9BSK1 ZN577_HUMAN zinc finger protein 577 153 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 21 all_neural(266;0.0602) GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.019) TCACTTACCTGGACAGATTTG 0.478000 37 74 0 0 1 0 0 BTAF1 9044 broad.mit.edu 37 10 93742443 93742443 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:93742443C>T ENST00000265990.6 + 18 2456 c.2148C>T c.(2146-2148)ttC>ttT p.F716F BTAF1_ENST00000471217.1_3'UTR NM_003972.2 NP_003963.1 O14981 BTAF1_HUMAN BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa 716 negative regulation of transcription, DNA-dependent nucleus ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6) 59 Colorectal(252;0.0846) TACTACTCTTCCATTTGAACT 0.403000 30 73 0 0 1 0 0 ZNF804A 91752 broad.mit.edu 37 2 185801027 185801027 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:185801027G>A ENST00000302277.6 + 4 1498 c.904G>A c.(904-906)Gaa>Aaa p.E302K NM_194250.1 NP_919226.1 Q7Z570 Z804A_HUMAN zinc finger protein 804A 302 intracellular zinc ion binding NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1) 146 AGTCTCTAGTGAAAAAGATGC 0.343000 31 42 0 0 1 0 0 CD97 976 broad.mit.edu 37 19 14512363 14512363 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:14512363C>T ENST00000242786.5 + 10 1143 c.1063C>T c.(1063-1065)Cct>Tct p.P355S CD97_ENST00000357355.3_Missense_Mutation_p.P306S|CD97_ENST00000358600.3_Missense_Mutation_p.P262S NM_078481.3 NP_510966.1 P48960 CD97_HUMAN CD97 molecule 355 cell adhesion|cell-cell signaling|cellular component movement|immune response|inflammatory response|neuropeptide signaling pathway extracellular space|integral to plasma membrane calcium ion binding|G-protein coupled receptor activity|protein binding breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 30 CTACATTTCCCCTTCGAACAC 0.602000 8 90 0 0 1 0 0 TRHR 7201 broad.mit.edu 37 8 110131562 110131562 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:110131562G>A ENST00000518632.1 + 3 1426 c.1075G>A c.(1075-1077)Gag>Aag p.E359K TRHR_ENST00000311762.2_Missense_Mutation_p.E359K P34981 TRFR_HUMAN thyrotropin-releasing hormone receptor 359 integral to plasma membrane thyrotropin-releasing hormone receptor activity endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(12)|prostate(4)|skin(4)|urinary_tract(1) 37 OV - Ovarian serous cystadenocarcinoma(57;2.3e-11) CGTCATCAAGGAGTCAGACCA 0.468000 7 206 0 0 1 0 0 PFDN4 5203 broad.mit.edu 37 20 52831931 52831931 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr20:52831931C>T ENST00000371419.2 + 3 479 c.225C>T c.(223-225)ttC>ttT p.F75F PFDN4_ENST00000487129.1_3'UTR NM_002623.3 NP_002614.2 Q9NQP4 PFD4_HUMAN prefoldin subunit 4 75 'de novo' posttranslational protein folding prefoldin complex chaperone binding|unfolded protein binding endometrium(1)|kidney(2) 3 Lung NSC(4;1.08e-05)|all_lung(4;2.7e-05) Colorectal(105;0.124)|STAD - Stomach adenocarcinoma(23;0.206) GTGATGTCTTCATTAGCCATT 0.313000 34 48 0 0 1 0 0 UNC79 57578 broad.mit.edu 37 14 94100900 94100900 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr14:94100900G>A ENST00000553484.1 + 33 5970 c.5816G>A c.(5815-5817)gGa>gAa p.G1939E UNC79_ENST00000393151.2_Missense_Mutation_p.G1917E|UNC79_ENST00000555664.1_Intron|UNC79_ENST00000256339.4_Missense_Mutation_p.G1740E Q9P2D8 UNC79_HUMAN unc-79 homolog (C. elegans) 1917 integral to membrane breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4) 118 GGATCCCTGGGAGTTCTGACA 0.468000 65 107 0 0 1 0 0 FAT1 2195 broad.mit.edu 37 4 187541564 187541564 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:187541564G>A ENST00000441802.2 - 10 6385 c.6176C>T c.(6175-6177)cCt>cTt p.P2059L NM_005245.3 NP_005236.2 Q14517 FAT1_HUMAN FAT atypical cadherin 1 2059 Cadherin 18. actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4) 228 CACTGCAGAAGGCTTATGTTC 0.512000 HNSCC(5;0.00058) 71 175 0 0 1 0 0 KRT23 25984 broad.mit.edu 37 17 39092671 39092671 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:39092671C>T ENST00000209718.3 - 2 609 c.185G>A c.(184-186)gGa>gAa p.G62E KRT23_ENST00000436344.3_Intron|AC004231.2_ENST00000418393.1_RNA NM_015515.3 NP_056330.3 Q9C075 K1C23_HUMAN keratin 23 (histone deacetylase inducible) 62 Head. intermediate filament structural molecule activity central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 21 Breast(137;0.000301)|Ovarian(249;0.15) GCTGCTTCTTCCAGAACCCCA 0.667000 62 115 0 0 1 0 0 C12orf66 144577 broad.mit.edu 37 12 64616012 64616012 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:64616012C>T ENST00000311915.8 - 1 33 c.6G>A c.(4-6)ggG>ggA p.G2G C12orf66_ENST00000544871.1_Silent_p.G2G|C12orf66_ENST00000398055.3_Silent_p.G2G|C12orf66_ENST00000540673.1_5'UTR Q96MD2 CL066_HUMAN chromosome 12 open reading frame 66 2 central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1) 5 GGATAGACTCCCCCATGCGAG 0.652000 14 29 0 0 1 0 0 WBP11P1 441818 broad.mit.edu 37 18 30092692 30092692 + RNA SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr18:30092692G>A ENST00000567636.1 + 0 1067 NR_003558.1 AGACAACAATGAAAAAAAGAA 0.443000 15 31 0 0 1 0 0 TG 7038 broad.mit.edu 37 8 133975258 133975258 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:133975258G>A ENST00000220616.4 + 29 5527 c.5487G>A c.(5485-5487)cgG>cgA p.R1829R TG_ENST00000377869.1_Silent_p.R1772R|TG_ENST00000542445.1_Silent_p.R199R NM_003235.4 NP_003226.4 P01266 THYG_HUMAN thyroglobulin 1829 hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation extracellular space hormone activity NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8) 168 Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735) BRCA - Breast invasive adenocarcinoma(115;0.000701) KIRC - Kidney renal clear cell carcinoma(542;0.0546) TGGGGTCTCGGCCTGAGTCTA 0.478000 162 284 0 0 1 0 0 KDM5B 10765 broad.mit.edu 37 1 202709885 202709885 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:202709885G>A ENST00000367265.3 - 20 4165 c.3001C>T c.(3001-3003)Cct>Tct p.P1001S KDM5B_ENST00000367264.2_Missense_Mutation_p.P1037S NM_006618.3 NP_006609.3 Q9UGL1 KDM5B_HUMAN lysine (K)-specific demethylase 5B 1001 negative regulation of transcription, DNA-dependent nucleolus DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding breast(2)|ovary(2)|skin(1)|urinary_tract(1) 6 AGATATGCAGGGATCTCTTCG 0.448000 7 137 0 0 1 0 0 UNC79 57578 broad.mit.edu 37 14 94155082 94155082 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr14:94155082C>T ENST00000553484.1 + 46 7318 c.7164C>T c.(7162-7164)gcC>gcT p.A2388A UNC79_ENST00000393151.2_Silent_p.A2366A|UNC79_ENST00000555664.1_Silent_p.A2327A|UNC79_ENST00000256339.4_Silent_p.A2189A Q9P2D8 UNC79_HUMAN unc-79 homolog (C. elegans) 2366 integral to membrane breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4) 118 TGGGGCTGGCCCAGATTGCAG 0.507000 36 72 0 0 1 0 0 STPG1 90529 broad.mit.edu 37 1 24685044 24685044 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:24685044G>A ENST00000374409.1 - 9 1248 c.994C>T c.(994-996)Ccg>Tcg p.P332S STPG1_ENST00000468303.1_5'UTR|GRHL3_ENST00000350501.5_Intron|STPG1_ENST00000440416.1_Missense_Mutation_p.P285S|STPG1_ENST00000337248.4_Missense_Mutation_p.P332S|STPG1_ENST00000003583.8_Missense_Mutation_p.P285S NM_001199012.1 NP_001185941.1 sperm-tail PG-rich repeat containing 1 TACAGAACCGGGATCCATTTC 0.562000 31 46 0 0 1 0 0 TRBJ2-6 28623 broad.mit.edu 37 7 142494931 142494931 + RNA SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:142494931C>T ENST00000390418.1 + 0 9 TGCTCTGGGGCCAACGTCCTG 0.731000 20 84 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179577262 179577262 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:179577262C>T ENST00000589042.1 - 95 27611 c.27387G>A c.(27385-27387)ctG>ctA p.L9129L TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Silent_p.L8812L|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Silent_p.L7885L|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000431752.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 8812 Ig-like 74. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) CCTCTAGGATCAGGGGTTTTC 0.388000 12 20 0 0 1 0 0 OR10J3 441911 broad.mit.edu 37 1 159284184 159284184 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:159284184G>A ENST00000332217.5 - 1 265 c.266C>T c.(265-267)cCt>cTt p.P89L NM_001004467.1 NP_001004467.1 Q5JRS4 O10J3_HUMAN olfactory receptor, family 10, subfamily J, member 3 89 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(19)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 47 all_hematologic(112;0.0429) GGGCTGATGAGGATTCAAGAG 0.498000 45 120 0 0 1 0 0 C6 729 broad.mit.edu 37 5 41149355 41149355 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:41149355C>T ENST00000263413.3 - 17 2875 c.2611G>A c.(2611-2613)Gaa>Aaa p.E871K C6_ENST00000337836.5_Missense_Mutation_p.E871K NM_001115131.1 NP_001108603.2 P13671 CO6_HUMAN complement component 6 871 C5b-binding domain.|Complement control factor I module 2. complement activation, classical pathway|cytolysis|innate immune response membrane attack complex protein binding p.E871K(1) central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2) 96 Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157) GAACATTTTTCCCAGTCATAG 0.418000 109 385 0 0 1 0 0 DLEC1 9940 broad.mit.edu 37 3 38104139 38104139 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:38104139G>A ENST00000308059.6 + 5 962 c.941G>A c.(940-942)aGa>aAa p.R314K DLEC1_ENST00000452631.2_Missense_Mutation_p.R314K|DLEC1_ENST00000346219.3_Missense_Mutation_p.R314K Q9Y238 DLEC1_HUMAN deleted in lung and esophageal cancer 1 314 negative regulation of cell proliferation cytoplasm NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 51 KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827) GAGCTAGACAGACTTCTGCTT 0.423000 18 54 0 0 1 0 0 CX3CR1 1524 broad.mit.edu 37 3 39307216 39307216 + Missense_Mutation SNP A A G rs137854870 TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:39307216A>G ENST00000541347.1 - 2 1024 c.785T>C c.(784-786)tTt>tCt p.F262S CX3CR1_ENST00000358309.3_Missense_Mutation_p.F294S|CX3CR1_ENST00000542107.1_Missense_Mutation_p.F262S|CX3CR1_ENST00000399220.2_Missense_Mutation_p.F262S NM_001171171.1 NP_001164642.1 P49238 CX3C1_HUMAN chemokine (C-X3-C motif) receptor 1 262 cell adhesion|cellular defense response|chemotaxis|interspecies interaction between organisms|response to wounding integral to plasma membrane chemokine receptor activity endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1) 24 KIRC - Kidney renal clear cell carcinoma(284;0.0557)|Kidney(284;0.0699) ACAACTGGGAAAGAAGTCATA 0.463000 50 119 0 0 1 0 0 APOD 347 broad.mit.edu 37 3 195295876 195295876 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:195295876G>A ENST00000343267.3 - 5 826 c.465C>T c.(463-465)ctC>ctT p.L155L NM_001647.3 NP_001638.1 P05090 APOD_HUMAN apolipoprotein D 155 lipid metabolic process extracellular space lipid binding|lipid transporter activity|protein binding breast(1)|endometrium(1)|large_intestine(1)|lung(1)|ovary(3)|skin(1)|upper_aerodigestive_tract(1) 9 all_cancers(143;1.8e-08)|Ovarian(172;0.0634) Lung NSC(153;0.191) Epithelial(36;1e-21)|all cancers(36;9.02e-20)|OV - Ovarian serous cystadenocarcinoma(49;1.6e-18)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128) GBM - Glioblastoma multiforme(46;1.66e-05) TTTCTGGAGGGAGATTAGGGT 0.443000 44 158 0 0 1 0 0 NAV1 89796 broad.mit.edu 37 1 201779084 201779084 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:201779084C>T ENST00000367296.4 + 23 4832 c.4412C>T c.(4411-4413)tCt>tTt p.S1471F NAV1_ENST00000367300.3_Missense_Mutation_p.S1411F|NAV1_ENST00000295624.6_Missense_Mutation_p.S1468F|NAV1_ENST00000367302.1_Missense_Mutation_p.S1424F|IPO9-AS1_ENST00000413035.1_RNA|NAV1_ENST00000367295.1_Missense_Mutation_p.S1077F|NAV1_ENST00000367297.4_Missense_Mutation_p.S1463F NM_020443.4 NP_065176.3 Q8NEY1 NAV1_HUMAN neuron navigator 1 1471 cell differentiation|nervous system development cytoplasm|microtubule nucleoside-triphosphatase activity|nucleotide binding breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2) 70 GACTATATTTCTAAAATGGAC 0.458000 38 79 0 0 1 0 0 BPIFA2 140683 broad.mit.edu 37 20 31761975 31761975 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr20:31761975G>A ENST00000253362.2 + 4 539 c.393G>A c.(391-393)gcG>gcA p.A131A BPIFA2_ENST00000354932.5_Silent_p.A131A Q96DR5 SPLC2_HUMAN BPI fold containing family A, member 2 131 extracellular region lipid binding CTGTCACCGCGAATGTCACTG 0.532000 52 94 0 0 1 0 0 CDHR2 54825 broad.mit.edu 37 5 176008484 176008484 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:176008484C>T ENST00000510636.1 + 17 2233 c.1959C>T c.(1957-1959)atC>atT p.I653I CDHR2_ENST00000261944.5_Silent_p.I653I|CDHR2_ENST00000506348.1_Silent_p.I653I NM_001171976.1 NP_001165447.1 Q9BYE9 CDHR2_HUMAN cadherin-related family member 2 653 Cadherin 6. homophilic cell adhesion|negative regulation of cell growth apical plasma membrane|cell junction|integral to membrane calcium ion binding|protein binding breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1) 56 GAGAGGCCATCGACCCCGCCC 0.617000 10 89 0 0 1 0 0 TMEM200C 645369 broad.mit.edu 37 18 5891625 5891625 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr18:5891625G>A ENST00000581347.1 - 3 1083 c.438C>T c.(436-438)tcC>tcT p.S146S RP11-945C19.4_ENST00000577694.1_RNA|TMEM200C_ENST00000383490.2_Silent_p.S146S A6NKL6 T200C_HUMAN transmembrane protein 200C 146 integral to membrane autonomic_ganglia(1)|endometrium(1)|large_intestine(4)|lung(5)|stomach(1) 12 CCACGGACGTGGAGGAGGAGG 0.652000 27 56 0 0 1 0 0 C17orf77 146723 broad.mit.edu 37 17 72588355 72588355 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:72588355C>T ENST00000392620.1 + 3 532 c.170C>T c.(169-171)tCt>tTt p.S57F CD300LD_ENST00000375352.1_5'UTR|C17orf77_ENST00000328023.2_Missense_Mutation_p.S57F NM_152460.2 NP_689673.2 Q96MU5 CQ077_HUMAN chromosome 17 open reading frame 77 57 S -> T (in Ref. 1; AK056444). extracellular region breast(2)|large_intestine(2)|lung(5)|prostate(1)|stomach(1) 11 CCTGTCTCCTCTCCTCTCCTT 0.552000 16 91 0 0 1 0 0 NRXN1 9378 broad.mit.edu 37 2 50280594 50280594 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:50280594C>T ENST00000404971.1 - 22 5402 c.4063G>A c.(4063-4065)Gat>Aat p.D1355N NRXN1_ENST00000405472.3_Missense_Mutation_p.D1307N|NRXN1_ENST00000406859.3_Missense_Mutation_p.D1285N|NRXN1_ENST00000406316.2_Missense_Mutation_p.D1285N|NRXN1_ENST00000342183.5_Missense_Mutation_p.D250N|NRXN1_ENST00000401669.2_Missense_Mutation_p.D1315N|NRXN1_ENST00000402717.3_Missense_Mutation_p.D1307N|NRXN1_ENST00000401710.1_Missense_Mutation_p.D303N NM_001135659.1 NP_001129131.1 Q9ULB1 NRX1A_HUMAN neurexin 1 1285 adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition cell surface|integral to plasma membrane metal ion binding|protein binding|receptor activity breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 58 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192) Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116) ATGTTGGCATCGTTTTCGGCT 0.507000 30 92 0 0 1 0 0 C5orf15 56951 broad.mit.edu 37 5 133295377 133295377 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:133295377G>A ENST00000231512.3 - 2 676 c.474C>T c.(472-474)ggC>ggT p.G158G C5orf15_ENST00000507191.1_5'UTR NM_020199.2 NP_064584.1 Q8NC54 KCT2_HUMAN chromosome 5 open reading frame 15 158 integral to membrane endometrium(2)|large_intestine(1)|lung(1) 4 KIRC - Kidney renal clear cell carcinoma(527;0.00806)|Kidney(363;0.02) CGTCCCTGGGGCCCGTGGTCC 0.473000 41 86 0 0 1 0 0 NRXN1 9378 broad.mit.edu 37 2 50149083 50149083 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:50149083C>T ENST00000404971.1 - 24 5982 c.4643G>A c.(4642-4644)tGa>tAa p.*1548* NRXN1_ENST00000405472.3_Silent_p.*1500*|NRXN1_ENST00000406859.3_Silent_p.*1478*|NRXN1_ENST00000406316.2_Silent_p.*1478*|NRXN1_ENST00000342183.5_Silent_p.*443*|NRXN1_ENST00000401669.2_Silent_p.*1508*|NRXN1_ENST00000402717.3_Silent_p.*1500*|NRXN1_ENST00000401710.1_Silent_p.*496* NM_001135659.1 NP_001129131.1 Q9ULB1 NRX1A_HUMAN neurexin 1 0 adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition cell surface|integral to plasma membrane metal ion binding|protein binding|receptor activity breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 58 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192) Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116) ATCTTGGGATCAGACATAATA 0.338000 5 91 0 0 1 0 0 AGMO 392636 broad.mit.edu 37 7 15470634 15470634 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:15470634G>A ENST00000342526.3 - 4 678 c.509C>T c.(508-510)tCc>tTc p.S170F NM_001004320.1 NP_001004320.1 Q6ZNB7 ALKMO_HUMAN alkylglycerol monooxygenase 170 ether lipid metabolic process|fatty acid biosynthetic process|membrane lipid metabolic process endoplasmic reticulum membrane|integral to membrane glyceryl-ether monooxygenase activity|iron ion binding breast(1)|kidney(1)|large_intestine(6)|liver(1)|lung(30)|prostate(1)|skin(2) 42 ACTTACCCAGGAAGTATATAT 0.333000 7 70 0 0 1 0 0 MTTP 4547 broad.mit.edu 37 4 100542371 100542371 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:100542371G>A ENST00000457717.1 + 18 2752 c.2496G>A c.(2494-2496)aaG>aaA p.K832K RP11-766F14.1_ENST00000508578.1_RNA|MTTP_ENST00000511045.1_Silent_p.K859K|MTTP_ENST00000265517.5_Silent_p.K832K NM_000253.2 NP_000244.2 P55157 MTP_HUMAN microsomal triglyceride transfer protein 832 lipid metabolic process|lipoprotein metabolic process endoplasmic reticulum lumen lipid binding|lipid transporter activity breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1) 57 OV - Ovarian serous cystadenocarcinoma(123;6.04e-09) Hesperetin(DB01094) AGATGGACAAGGATGAAGCTC 0.468000 7 213 0 0 1 0 0 TBC1D22B 55633 broad.mit.edu 37 6 37247221 37247221 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:37247221C>T ENST00000373491.3 + 3 401 c.255C>T c.(253-255)ttC>ttT p.F85F NM_017772.2 NP_060242.2 Q9NU19 TB22B_HUMAN TBC1 domain family, member 22B 85 intracellular Rab GTPase activator activity breast(1)|endometrium(1)|large_intestine(2)|lung(10)|prostate(1) 15 OV - Ovarian serous cystadenocarcinoma(102;0.241) CACCTTCTTTCCAAACTCTGA 0.458000 52 131 0 0 1 0 0 PITPNM1 9600 broad.mit.edu 37 11 67270048 67270048 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:67270048G>A ENST00000356404.3 - 3 445 c.220C>T c.(220-222)Cgg>Tgg p.R74W PITPNM1_ENST00000436757.2_Missense_Mutation_p.R74W|PITPNM1_ENST00000534749.1_Missense_Mutation_p.R74W NM_001130848.1|NM_004910.2 NP_001124320.1|NP_004901.2 O00562 PITM1_HUMAN phosphatidylinositol transfer protein, membrane-associated 1 74 brain development|lipid metabolic process|phototransduction|protein transport cleavage furrow|endoplasmic reticulum membrane|Golgi cisterna membrane|lipid particle|membrane fraction|midbody metal ion binding|phosphatidylinositol transporter activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(3) 18 AGCAGTGCCCGGAACCAGCCT 0.652000 57 84 0 0 1 0 0 EPHA4 2043 broad.mit.edu 37 2 222429090 222429090 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:222429090C>T ENST00000281821.2 - 3 225 c.184G>A c.(184-186)Gaa>Aaa p.E62K EPHA4_ENST00000409854.1_Missense_Mutation_p.E62K|EPHA4_ENST00000409938.1_Missense_Mutation_p.E62K|EPHA4_ENST00000392071.4_Missense_Mutation_p.E11K NM_004438.3 NP_004429.1 P54764 EPHA4_HUMAN EPH receptor A4 62 integral to plasma membrane ATP binding|ephrin receptor activity NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 49 Renal(207;0.0183) Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154) GTATTTTTTTCATCCATGATA 0.428000 71 132 0 0 1 0 0 NOTUM 147111 broad.mit.edu 37 17 79916861 79916861 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:79916861G>A ENST00000409678.3 - 4 866 c.483C>T c.(481-483)atC>atT p.I161I NM_178493.5 NP_848588.3 Q6P988 NOTUM_HUMAN notum pectinacetylesterase homolog (Drosophila) 161 extracellular region hydrolase activity breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)|ovary(1)|skin(1)|urinary_tract(1) 15 all_neural(118;0.0878)|Ovarian(332;0.12) BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0382) GTGAGGACAGGATCCCTGTGC 0.627000 17 120 0 0 1 0 0 NRK 203447 broad.mit.edu 37 X 105169000 105169000 + Nonsense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chrX:105169000C>T ENST00000428173.2 + 19 3595 c.3292C>T c.(3292-3294)Cag>Tag p.Q1098* NRK_ENST00000243300.9_Nonsense_Mutation_p.Q1097* Q7Z2Y5 NRK_HUMAN Nik related kinase 1097 ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2) 76 ACCTGCGTCTCAGGACTTTGA 0.453000 HNSCC(51;0.14) 38 23 0 0 1 0 0 APOBEC3C 27350 broad.mit.edu 37 22 39413810 39413810 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr22:39413810C>T ENST00000361441.3 + 3 494 c.214C>T c.(214-216)Ctc>Ttc p.L72F APOBEC3D_ENST00000381568.4_Intron NM_014508.2 NP_055323.2 Q9NRW3 ABC3C_HUMAN apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3C 72 DNA demethylation|interspecies interaction between organisms|negative regulation of transposition hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|protein binding|zinc ion binding endometrium(1)|large_intestine(3)|lung(1)|skin(1) 6 Melanoma(58;0.04) AAGGTGCTTCCTCTCTTGGTT 0.577000 35 310 0 0 1 0 0 TRIM60 166655 broad.mit.edu 37 4 165962216 165962216 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:165962216G>A ENST00000512596.1 + 3 1208 c.992G>A c.(991-993)aGg>aAg p.R331K TRIM60_ENST00000341062.5_Missense_Mutation_p.R331K|TRIM60_ENST00000508504.1_Missense_Mutation_p.R331K NM_152620.2 NP_689833.1 Q495X7 TRI60_HUMAN tripartite motif containing 60 331 B30.2/SPRY. intracellular zinc ion binding NS(1)|breast(2)|endometrium(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1) 29 all_hematologic(180;0.221) Prostate(90;0.0959)|Melanoma(52;0.18) GBM - Glioblastoma multiforme(119;0.0844) TATGACCCAAGGAGATTTTAT 0.408000 38 100 0 0 1 0 0 DEFA4 1669 broad.mit.edu 37 8 6794355 6794355 + Nonsense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:6794355G>A ENST00000297435.2 - 2 191 c.67C>T c.(67-69)Cag>Tag p.Q23* NM_001925.1 NP_001916.1 P12838 DEF4_HUMAN defensin, alpha 4, corticostatin 23 defense response to bacterium|defense response to fungus|killing of cells of other organism extracellular space endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1) 10 COAD - Colon adenocarcinoma(149;0.0572)|READ - Rectum adenocarcinoma(644;0.121) CCTCTTGCCTGGAGTGGGCCT 0.587000 37 56 0 0 1 0 0 C3P1 388503 broad.mit.edu 37 19 10158008 10158008 + RNA SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:10158008G>A ENST00000495140.1 + 0 1216 p.S57S(1) endometrium(4)|large_intestine(2)|lung(6)|urinary_tract(1) 13 TCTGTGTCTCGGACCCCTTTG 0.542000 71 166 0 0 1 0 0 BCL6B 255877 broad.mit.edu 37 17 6930390 6930390 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:6930390G>A ENST00000293805.5 + 8 1399 c.1307G>A c.(1306-1308)gGa>gAa p.G436E NM_181844.3 NP_862827.1 Q8N143 BCL6B_HUMAN B-cell CLL/lymphoma 6, member B 436 nucleus zinc ion binding skin(1) 1 ATCCACACCGGAGAGAAGCCT 0.632000 36 81 0 0 1 0 0 NPY2R 4887 broad.mit.edu 37 4 156136099 156136099 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:156136099C>T ENST00000329476.3 + 2 1497 c.1008C>T c.(1006-1008)ttC>ttT p.F336F NPY2R_ENST00000506608.1_Silent_p.F336F NM_000910.2 NP_000901.1 P49146 NPY2R_HUMAN neuropeptide Y receptor Y2 336 cardiac left ventricle morphogenesis|inhibition of adenylate cyclase activity by G-protein signaling pathway|locomotory behavior|outflow tract morphogenesis integral to plasma membrane calcium channel regulator activity breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(17)|prostate(1)|skin(5)|urinary_tract(1) 36 all_hematologic(180;0.24) Renal(120;0.0854) GAAAGGCTTTCCTCTCGGCCT 0.498000 39 72 0 0 1 0 0 SPEN 23013 broad.mit.edu 37 1 16199407 16199407 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:16199407G>A ENST00000375759.3 + 2 384 c.180G>A c.(178-180)caG>caA p.Q60Q NM_015001.2 NP_055816.2 Q96T58 MINT_HUMAN spen family transcriptional repressor 60 RRM 1. interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway nucleus nucleotide binding|protein binding|RNA binding NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1) 149 Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681) AAAGTGCACAGAAAGCTCACA 0.498000 7 125 0 0 1 0 0 LMX1B 4010 broad.mit.edu 37 9 129455863 129455863 + Nonsense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:129455863C>T ENST00000355497.5 + 5 809 c.802C>T c.(802-804)Cag>Tag p.Q268* LMX1B_ENST00000373474.4_Nonsense_Mutation_p.Q268*|LMX1B_ENST00000526117.1_Nonsense_Mutation_p.Q268*|LMX1B_ENST00000425646.2_Nonsense_Mutation_p.Q245*|LMX1B_ENST00000561065.1_Nonsense_Mutation_p.Q245* NM_001174146.1 NP_001167617.1 O60663 LMX1B_HUMAN LIM homeobox transcription factor 1, beta 245 dorsal/ventral pattern formation|in utero embryonic development nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(1)|large_intestine(3)|lung(9)|ovary(1)|skin(1) 15 GGTCTGGTTTCAGAACCAAAG 0.652000 Nail-Patella Syndrome 35 70 0 0 1 0 0 FETUB 26998 broad.mit.edu 37 3 186360341 186360341 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:186360341C>T ENST00000265029.3 + 3 519 c.418C>T c.(418-420)Cgc>Tgc p.R140C FETUB_ENST00000382134.3_Intron|RP11-134F2.2_ENST00000428501.1_RNA|RP11-134F2.2_ENST00000455926.1_RNA|FETUB_ENST00000450521.1_Missense_Mutation_p.R140C|FETUB_ENST00000488561.1_Intron|FETUB_ENST00000382136.3_Missense_Mutation_p.R103C|FETUB_ENST00000539949.1_Intron NM_014375.2 NP_055190.2 Q9UGM5 FETUB_HUMAN fetuin B 140 extracellular space cysteine-type endopeptidase inhibitor activity endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1) 20 all_cancers(143;6.64e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;5.73e-20) GBM - Glioblastoma multiforme(93;0.0479) CTGTACTCTTCGCCCAGGTAA 0.348000 41 82 0 0 1 0 0 DDX60 55601 broad.mit.edu 37 4 169145414 169145414 + Nonsense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:169145414G>A ENST00000393743.3 - 35 5095 c.4804C>T c.(4804-4806)Cga>Tga p.R1602* NM_017631.5 NP_060101.3 Q8IY21 DDX60_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 60 1602 ATP binding|ATP-dependent helicase activity|RNA binding breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4) 63 Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132) GBM - Glioblastoma multiforme(119;0.0485) GTTTCTAGTCGAAGCAAATCA 0.373000 21 53 0 0 1 0 0 CSHL1 1444 broad.mit.edu 37 17 61987811 61987811 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:61987811G>A ENST00000392824.4 - 2 545 c.484C>T c.(484-486)Cct>Tct p.P162S CSHL1_ENST00000561003.1_Missense_Mutation_p.S9F|CSHL1_ENST00000450719.3_5'UTR|CSHL1_ENST00000259003.10_Missense_Mutation_p.S30F|CSHL1_ENST00000558099.1_5'UTR|CSHL1_ENST00000346606.6_5'UTR|CSHL1_ENST00000309894.5_Missense_Mutation_p.S92F|CSHL1_ENST00000438387.2_Missense_Mutation_p.S9F Q14406 CSHL_HUMAN chorionic somatomammotropin hormone-like 1 0 extracellular region hormone activity|metal ion binding endometrium(3)|lung(6) 9 CATGTTGGAGGATGTCGGAAT 0.547000 7 336 0 0 1 0 0 SLCO3A1 28232 broad.mit.edu 37 15 92647532 92647532 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr15:92647532G>A ENST00000318445.6 + 4 983 c.769G>A c.(769-771)Gac>Aac p.D257N SLCO3A1_ENST00000555549.1_3'UTR|SLCO3A1_ENST00000424469.2_Missense_Mutation_p.D257N NM_013272.3 NP_037404.2 Q9UIG8 SO3A1_HUMAN solute carrier organic anion transporter family, member 3A1 257 sodium-independent organic anion transport integral to membrane|plasma membrane sodium-independent organic anion transmembrane transporter activity breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2) 25 Lung NSC(78;0.0158)|all_lung(78;0.0255) BRCA - Breast invasive adenocarcinoma(143;0.0841) CACTCCGGACGACCCCCGCTG 0.542000 11 307 0 0 1 0 0 ITGA1 3672 broad.mit.edu 37 5 52177794 52177794 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:52177794G>A ENST00000282588.6 + 7 1172 c.714G>A c.(712-714)aaG>aaA p.K238K NM_181501.1 NP_852478.1 P56199 ITA1_HUMAN integrin, alpha 1 238 VWFA. axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|muscle contraction integrin complex collagen binding|receptor activity NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(19)|ovary(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 Lung NSC(810;5.05e-05)|Breast(144;0.0851) TTGCAGCAAAGAAAATAGTCC 0.398000 29 51 0 0 1 0 0 FOXO4 4303 broad.mit.edu 37 X 70321112 70321112 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chrX:70321112C>T ENST00000374259.3 + 2 1364 c.1032C>T c.(1030-1032)tcC>tcT p.S344S FOXO4_ENST00000341558.3_Silent_p.S289S NM_001170931.1|NM_005938.3 NP_001164402.1|NP_005929.2 P98177 FOXO4_HUMAN forkhead box O4 344 cell cycle arrest|cell differentiation|embryo development|G1 phase of mitotic cell cycle|insulin receptor signaling pathway|mitotic cell cycle G2/M transition DNA damage checkpoint|muscle organ development|negative regulation of angiogenesis|negative regulation of cell proliferation|negative regulation of smooth muscle cell differentiation|nerve growth factor receptor signaling pathway|pattern specification process|phosphatidylinositol-mediated signaling|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|tissue development cytosol|transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|protein kinase binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(1) 18 Renal(35;0.156) ACAGCAGCTCCCTTTTCAGCC 0.607000 OREG0019856 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 18 22 0 0 1 0 0 RNASE9 390443 broad.mit.edu 37 14 21024623 21024623 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr14:21024623G>A ENST00000557068.1 - 4 2331 c.606C>T c.(604-606)gtC>gtT p.V202V RNASE9_ENST00000555230.1_Silent_p.V202V|RNASE9_ENST00000557209.1_Silent_p.V207V|RNASE9_ENST00000338904.3_Silent_p.V202V|RNASE9_ENST00000554964.1_Silent_p.V202V|RNASE9_ENST00000556208.1_Silent_p.V207V|RNASE9_ENST00000429244.2_Silent_p.V202V|RNASE9_ENST00000404716.3_Silent_p.V207V|RNASE9_ENST00000553706.1_Silent_p.V207V|RNASE9_ENST00000553541.1_Silent_p.V202V P60153 RNAS9_HUMAN ribonuclease, RNase A family, 9 (non-active) 202 extracellular region nucleic acid binding|pancreatic ribonuclease activity haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|ovary(2)|urinary_tract(1) 8 all_cancers(95;0.00238) Epithelial(56;3.32e-06)|all cancers(55;2.46e-05) GBM - Glioblastoma multiforme(265;0.0141) AGGGCGATATGACAAAGACAC 0.418000 5 71 0 0 1 0 0 KCNA4 3739 broad.mit.edu 37 11 30032891 30032891 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:30032891G>A ENST00000328224.6 - 2 2568 c.1335C>T c.(1333-1335)atC>atT p.I445I NM_002233.3 NP_002224.1 P22459 KCNA4_HUMAN potassium voltage-gated channel, shaker-related subfamily, member 4 445 voltage-gated potassium channel complex potassium ion binding|protein binding|voltage-gated potassium channel activity central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 78 CCAGACGAATGATTCTGAGGA 0.572000 38 77 0 0 1 0 0 MRGPRX1 259249 broad.mit.edu 37 11 18955795 18955795 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:18955795G>A ENST00000302797.3 - 1 761 c.537C>T c.(535-537)atC>atT p.I179I MRGPRX1_ENST00000526914.1_5'UTR NM_147199.3 NP_671732.3 Q96LB2 MRGX1_HUMAN MAS-related GPR, member X1 179 acute-phase response integral to membrane|plasma membrane G-protein coupled receptor activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 36 ACGCGACTGTGATGAAATCTG 0.527000 30 60 0 0 1 0 0 CPE 1363 broad.mit.edu 37 4 166403432 166403432 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:166403432G>A ENST00000402744.4 + 4 991 c.711G>A c.(709-711)atG>atA p.M237I NM_001873.2 NP_001864.1 P16870 CBPE_HUMAN carboxypeptidase E 237 cardiac left ventricle morphogenesis|neuropeptide signaling pathway|protein modification process extracellular region|nucleus|plasma membrane metallocarboxypeptidase activity|protein binding|zinc ion binding endometrium(2)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 26 all_hematologic(180;0.221) Prostate(90;0.0962)|Melanoma(52;0.18) GBM - Glioblastoma multiforme(119;0.137) Glucagon recombinant(DB00040)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) ATTGGATTATGGATATTCCTT 0.398000 34 69 0 0 1 0 0 IL10RB 3588 broad.mit.edu 37 21 34655402 34655402 + Nonsense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr21:34655402C>T ENST00000290200.2 + 5 610 c.502C>T c.(502-504)Caa>Taa p.Q168* AP000295.9_ENST00000433395.2_Silent_p.F295F NM_000628.4 NP_000619.3 interleukin 10 receptor, beta endometrium(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 14 TTACTAGTTTCAAATTACTCC 0.398000 30 73 0 0 1 0 0 HIST1H2AK 8330 broad.mit.edu 37 6 27806096 27806096 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:27806096C>T ENST00000330180.2 - 1 21 c.22G>A c.(22-24)Ggc>Agc p.G8S NM_003510.2 NP_003501.1 P0C0S8 H2A1_HUMAN histone cluster 1, H2ak 8 nucleosome assembly nucleosome|nucleus DNA binding|enzyme binding breast(2)|endometrium(2)|kidney(1)|lung(3)|upper_aerodigestive_tract(2) 10 GCTTTGCCGCCCTGCTTGCCA 0.557000 25 111 0 0 1 0 0 DSEL 92126 broad.mit.edu 37 18 65178431 65178431 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr18:65178431C>T ENST00000310045.7 - 2 4918 c.3445G>A c.(3445-3447)Gaa>Aaa p.E1149K CTD-2541J13.2_ENST00000581951.1_RNA|CTD-2541J13.2_ENST00000583493.1_RNA NM_032160.2 NP_115536.1 Q8IZU8 DSEL_HUMAN dermatan sulfate epimerase-like 1139 integral to membrane isomerase activity|sulfotransferase activity NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 74 Esophageal squamous(42;0.129) AAAATCCTTTCAGTAGTTTTC 0.383000 16 39 0 0 1 0 0 TMEM132E 124842 broad.mit.edu 37 17 32955723 32955723 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:32955723C>T ENST00000321639.5 + 4 1198 c.870C>T c.(868-870)ccC>ccT p.P290P NM_207313.1 NP_997196.1 Q6IEE7 T132E_HUMAN transmembrane protein 132E 290 integral to membrane breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(28)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 57 BRCA - Breast invasive adenocarcinoma(366;0.231) CACCCCTGCCCCCCAGGTGAG 0.627000 5 20 0 0 1 0 0 ADRA1A 148 broad.mit.edu 37 8 26614222 26614222 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:26614222C>T ENST00000380581.2 - 2 1393 c.958G>A c.(958-960)Gaa>Aaa p.E320K ADRA1A_ENST00000519229.1_3'UTR|ADRA1A_ENST00000380582.3_3'UTR|ADRA1A_ENST00000380586.1_Intron|ADRA1A_ENST00000380587.1_Intron P35348 ADA1A_HUMAN adrenoceptor alpha 1A 0 activation of phospholipase C activity|aging|apoptosis|calcium ion transport into cytosol|cell-cell signaling|intracellular protein kinase cascade|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of synaptic transmission, GABAergic|positive regulation of action potential|positive regulation of cardiac muscle contraction|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase C signaling cascade|positive regulation of vasoconstriction|response to drug|response to hormone stimulus|response to stress|smooth muscle contraction integral to plasma membrane alpha1-adrenergic receptor activity breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|skin(1) 36 all_cancers(63;0.122)|Ovarian(32;2.61e-05)|all_epithelial(46;0.118) UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;4.92e-10)|Colorectal(74;0.0132)|READ - Rectum adenocarcinoma(644;0.115) Alfuzosin(DB00346)|Amiodarone(DB01118)|Amphetamine(DB00182)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Carvedilol(DB01136)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Epinastine(DB00751)|Epinephrine(DB00668)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Maprotiline(DB00934)|Mephentermine(DB01365)|Metaraminol(DB00610)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Nefazodone(DB01149)|Nicergoline(DB00699)|Nilutamide(DB00665)|Norepinephrine(DB00368)|Norgestrel(DB00506)|Oxymetazoline(DB00935)|Perphenazine(DB00850)|Phendimetrazine(DB01579)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Prazosin(DB00457)|Promazine(DB00420)|Promethazine(DB01069)|Propericiazine(DB01608)|Propiomazine(DB00777)|Pseudoephedrine(DB00852)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Thioridazine(DB00679)|Tolazoline(DB00797)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Ziprasidone(DB00246) TGGTGGGTTTCATGCTCCCCT 0.517000 24 27 0 0 1 0 0 HSP90AA1 3320 broad.mit.edu 37 14 102568304 102568304 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr14:102568304G>A ENST00000334701.7 - 2 555 c.274C>T c.(274-276)Cct>Tct p.P92S HSP90AA1_ENST00000558600.1_5'UTR NM_001017963.2 NP_001017963.2 P07900 HS90A_HUMAN heat shock protein 90kDa alpha (cytosolic), class A member 1 0 axon guidance|cellular chaperone-mediated protein complex assembly|G2/M transition of mitotic cell cycle|nitric oxide metabolic process|positive regulation of nitric oxide biosynthetic process|protein import into mitochondrial outer membrane|protein refolding|regulation of nitric-oxide synthase activity|response to unfolded protein|signal transduction cytosol|melanosome|plasma membrane ATP binding|ATPase activity|nitric-oxide synthase regulator activity|protein homodimerization activity|TPR domain binding|unfolded protein binding breast(1)|central_nervous_system(2)|endometrium(2)|kidney(6)|large_intestine(3)|liver(1)|lung(10)|ovary(2)|prostate(1) 28 Rifabutin(DB00615) GCGGTGACAGGGAATGCAGAG 0.522000 7 150 0 0 1 0 0 ASTN1 460 broad.mit.edu 37 1 177001678 177001678 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:177001678C>T ENST00000367654.2 - 3 792 c.779G>A c.(778-780)gGa>gAa p.G260E ASTN1_ENST00000367657.3_Missense_Mutation_p.G260E|ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000361833.2_Missense_Mutation_p.G260E|ASTN1_ENST00000424564.2_Missense_Mutation_p.G260E O14525 ASTN1_HUMAN astrotactin 1 260 cell migration|neuron cell-cell adhesion integral to membrane NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3) 153 GTCCTCCCCTCCGTTCATGCA 0.602000 104 119 0 0 1 0 0 C2CD5 9847 broad.mit.edu 37 12 22671044 22671044 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:22671044G>A ENST00000333957.4 - 8 1083 c.828C>T c.(826-828)ccC>ccT p.P276P C2CD5_ENST00000542676.1_Silent_p.P276P|C2CD5_ENST00000540703.1_5'UTR|C2CD5_ENST00000544930.1_Intron|C2CD5_ENST00000536386.1_Intron|C2CD5_ENST00000396028.2_Intron|C2CD5_ENST00000545552.1_Intron|C2CD5_ENST00000446597.1_Silent_p.P276P NM_014802.1 NP_055617.1 C2 calcium-dependent domain containing 5 AGTGAGTATTGGGATTGGGAT 0.448000 58 137 0 0 1 0 0 WDR53 348793 broad.mit.edu 37 3 196288161 196288161 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:196288161G>A ENST00000332629.5 - 3 753 c.186C>T c.(184-186)tcC>tcT p.S62S WDR53_ENST00000433160.1_Intron|WDR53_ENST00000429115.1_Intron NM_182627.1 NP_872433.1 Q7Z5U6 WDR53_HUMAN WD repeat domain 53 62 breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1) 13 all_cancers(143;8.88e-09)|Ovarian(172;0.0634)|Breast(254;0.135) Epithelial(36;1.6e-23)|all cancers(36;1.54e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.29e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.00326) TGGTGGGACAGGAGGGAGAAA 0.493000 32 64 0 0 1 0 0 ZIM3 114026 broad.mit.edu 37 19 57646418 57646418 + Silent SNP G G T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:57646418G>T ENST00000269834.1 - 5 1672 c.1287C>A c.(1285-1287)atC>atA p.I429I NM_052882.1 NP_443114.1 Q96PE6 ZIM3_HUMAN zinc finger, imprinted 3 429 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(27)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1) 52 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) TTAATTTCCGGATGAAGGTTT 0.408000 6 248 0.00198382 0.00198838 1 1 0 MMP16 4325 broad.mit.edu 37 8 89209494 89209494 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:89209494G>A ENST00000286614.6 - 2 455 c.174C>T c.(172-174)ccC>ccT p.P58P MMP16_ENST00000544227.1_5'UTR NM_005941.4 NP_005932.2 P51512 MMP16_HUMAN matrix metallopeptidase 16 (membrane-inserted) 58 collagen catabolic process|proteolysis cell surface|integral to plasma membrane|proteinaceous extracellular matrix calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3) 81 CTGACATTCTGGGGTCAGTCG 0.428000 33 62 0 0 1 0 0 CSMD2 114784 broad.mit.edu 37 1 34238299 34238299 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:34238299C>T ENST00000373381.4 - 13 1893 c.1717G>A c.(1717-1719)Gaa>Aaa p.E573K CSMD2_ENST00000338325.1_Missense_Mutation_p.E181K NM_052896.3 NP_443128.2 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 533 Sushi 3. integral to membrane|plasma membrane protein binding NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1) 246 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) CGGGAGCCTTCCCTCCGGCCA 0.517000 28 77 0 0 1 0 0 NKD1 85407 broad.mit.edu 37 16 50666288 50666288 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr16:50666288G>A ENST00000268459.3 + 9 1016 c.792G>A c.(790-792)ggG>ggA p.G264G NM_033119.4 NP_149110.1 Q969G9 NKD1_HUMAN naked cuticle homolog 1 (Drosophila) 264 Wnt receptor signaling pathway cytoplasm|plasma membrane calcium ion binding|protein binding NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|prostate(1)|urinary_tract(2) 23 all_cancers(37;0.229) GBM - Glioblastoma multiforme(240;0.243) ATCTCGCCGGGATAGAAAACT 0.592000 4 42 0 0 1 0 0 BTBD16 118663 broad.mit.edu 37 10 124043430 124043430 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:124043430G>A ENST00000368994.2 + 4 486 c.235G>A c.(235-237)Ggg>Agg p.G79R BTBD16_ENST00000260723.4_Missense_Mutation_p.G78R Q32M84 BTBDG_HUMAN BTB (POZ) domain containing 16 78 breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(3)|skin(2)|stomach(1)|urinary_tract(1) 15 all_neural(114;0.107)|Lung NSC(174;0.175)|all_lung(145;0.222)|Breast(234;0.238) CATCCAAAGTGGGGAAGCAGG 0.398000 17 39 0 0 1 0 0 CYP2F1 1572 broad.mit.edu 37 19 41630647 41630647 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:41630647C>T ENST00000331105.2 + 8 1060 c.988C>T c.(988-990)Ctc>Ttc p.L330F NM_000774.3 NP_000765.2 P24903 CP2F1_HUMAN cytochrome P450, family 2, subfamily F, polypeptide 1 330 naphthalene metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(11)|ovary(2)|skin(2) 29 GGAGATCGACCTCGTGGTGGG 0.667000 13 25 0 0 1 0 0 HLA-G 3135 broad.mit.edu 37 6 29795666 29795666 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:29795666G>A ENST00000428701.1 + 2 223 c.45G>A c.(43-45)ggG>ggA p.G15G HLA-G_ENST00000376815.3_Silent_p.G15G|HLA-G_ENST00000360323.6_Silent_p.G15G|HLA-G_ENST00000376828.2_Silent_p.G20G|HLA-G_ENST00000376818.3_Silent_p.G15G NM_002127.5 NP_002118.1 P17693 HLAG_HUMAN major histocompatibility complex, class I, G 15 antigen processing and presentation of peptide antigen via MHC class I|cellular defense response|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway integral to membrane|MHC class I protein complex MHC class I receptor activity central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(4)|ovary(3)|pancreas(1)|prostate(5)|skin(1) 21 TGCTCTCGGGGGCCCTGACCC 0.701000 29 72 0 0 1 0 0 CC2D1A 54862 broad.mit.edu 37 19 14041199 14041199 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:14041199C>T ENST00000318003.7 + 29 3088 c.2847C>T c.(2845-2847)ctC>ctT p.L949L CC2D1A_ENST00000589606.1_Silent_p.L948L NM_017721.4 NP_060191.3 Q6P1N0 C2D1A_HUMAN coiled-coil and C2 domain containing 1A 949 positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus|plasma membrane DNA binding|signal transducer activity NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(2)|skin(2) 27 OV - Ovarian serous cystadenocarcinoma(19;3.49e-23) TGCAGCGGCTCCGCAGGTGAG 0.657000 15 30 0 0 1 0 0 VNN2 8875 broad.mit.edu 37 6 133079012 133079012 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:133079012G>A ENST00000326499.6 - 1 135 c.11C>T c.(10-12)tCc>tTc p.S4F VNN2_ENST00000526192.1_5'UTR|VNN2_ENST00000525289.1_Missense_Mutation_p.S4F|VNN2_ENST00000525270.1_Intron NM_004665.2 NP_004656.2 O95498 VNN2_HUMAN vanin 2 4 cellular component movement|pantothenate metabolic process anchored to membrane|plasma membrane pantetheine hydrolase activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 OV - Ovarian serous cystadenocarcinoma(155;0.00237)|GBM - Glioblastoma multiforme(226;0.0267) TGGAAAAGAGGAAGTGACCAT 0.413000 65 23 0 0 1 0 0 AFAP1L1 134265 broad.mit.edu 37 5 148702175 148702175 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:148702175G>A ENST00000296721.4 + 15 1803 c.1705G>A c.(1705-1707)Gag>Aag p.E569K AFAP1L1_ENST00000515000.1_Missense_Mutation_p.E569K NM_001146337.1|NM_152406.2 NP_001139809.1|NP_689619.1 Q8TED9 AF1L1_HUMAN actin filament associated protein 1-like 1 569 protein binding breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(10)|ovary(1)|pancreas(1)|skin(2) 26 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CCAGGACGAGGAGCCCGAGCG 0.597000 3 6 0 0 1 0 0 EFCAB12 90288 broad.mit.edu 37 3 129140327 129140327 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:129140327C>T ENST00000505956.1 - 2 531 c.369G>A c.(367-369)aaG>aaA p.K123K EFCAB12_ENST00000326085.3_Silent_p.K123K NM_207307.1 NP_997190.1 EF-hand calcium binding domain 12 CCAGCCACCTCTTTACATCAC 0.562000 43 69 0 0 1 0 0 SYT4 6860 broad.mit.edu 37 18 40850545 40850545 + Missense_Mutation SNP T T C TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr18:40850545T>C ENST00000255224.3 - 4 1407 c.1039A>G c.(1039-1041)Aaa>Gaa p.K347E SYT4_ENST00000586678.1_Intron|SYT4_ENST00000590752.1_Missense_Mutation_p.K329E NM_020783.3 NP_065834.1 Q9H2B2 SYT4_HUMAN synaptotagmin IV 347 C2 2. cell junction|integral to membrane|synaptic vesicle membrane transporter activity breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|skin(6)|stomach(1)|upper_aerodigestive_tract(2) 44 GGGGTGCATTTCTTCACATGA 0.408000 44 81 0 0 1 0 0 MCM3 4172 broad.mit.edu 37 6 52141185 52141185 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:52141185G>A ENST00000596288.1 - 9 1417 c.1390C>T c.(1390-1392)Cgc>Tgc p.R464C MCM3_ENST00000476448.1_5'UTR|MCM3_ENST00000419835.2_Missense_Mutation_p.R373C|MCM3_ENST00000229854.7_Missense_Mutation_p.R419C NM_002388.4 NP_002379.3 P25205 MCM3_HUMAN minichromosome maintenance complex component 3 419 MCM. cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle alpha DNA polymerase:primase complex|centrosome|MCM complex|perinuclear region of cytoplasm ATP binding|DNA binding|helicase activity|protein binding endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 20 Lung NSC(77;0.0931) ATGGCTGTGCGATCCATGTCA 0.567000 22 43 0 0 1 0 0 PCNXL2 80003 broad.mit.edu 37 1 233190158 233190158 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:233190158C>T ENST00000258229.8 - 25 4441 c.4207G>A c.(4207-4209)Gga>Aga p.G1403R PCNXL2_ENST00000344698.2_Missense_Mutation_p.G55R NM_014801.3 NP_055616.3 A6NKB5 PCX2_HUMAN pecanex-like 2 (Drosophila) 1403 integral to membrane NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 86 all_cancers(173;0.0347)|Prostate(94;0.137) ACTAAGTCTCCACAGAGGGAC 0.433000 16 55 0 0 1 0 0 SDR16C5 195814 broad.mit.edu 37 8 57214080 57214080 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:57214080G>A ENST00000396721.2 - 6 887 c.757C>T c.(757-759)Cat>Tat p.H253Y SDR16C5_ENST00000522671.1_3'UTR|SDR16C5_ENST00000303749.3_Missense_Mutation_p.H297Y Q8N3Y7 RDHE2_HUMAN short chain dehydrogenase/reductase family 16C, member 5 297 detection of light stimulus involved in visual perception|keratinocyte proliferation|retinal metabolic process|retinol metabolic process endoplasmic reticulum membrane|integral to membrane|integral to membrane of membrane fraction binding|retinol dehydrogenase activity breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(1) 16 TCCATTGCATGAAGGATGCCC 0.383000 88 164 0 0 1 0 0 C9orf89 84270 broad.mit.edu 37 9 95875314 95875314 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:95875314C>T ENST00000375464.2 + 6 605 c.477C>T c.(475-477)ttC>ttT p.F159F C9orf89_ENST00000488630.1_3'UTR NM_032310.3 NP_115686.3 Q96LW7 BINCA_HUMAN chromosome 9 open reading frame 89 0 negative regulation of I-kappaB kinase/NF-kappaB cascade cytosol|nucleus CARD domain binding endometrium(1)|kidney(1)|lung(3)|ovary(1)|skin(1) 7 TCCTCGGTTTCTCGCCTGTCA 0.602000 11 20 0 0 1 0 0 CES1 1066 broad.mit.edu 37 16 55844895 55844895 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr16:55844895C>T ENST00000422046.2 - 10 1389 c.1108G>A c.(1108-1110)Ggg>Agg p.G370R CES1_ENST00000360526.3_Missense_Mutation_p.G372R|CES1_ENST00000361503.4_Missense_Mutation_p.G371R P23141 EST1_HUMAN carboxylesterase 1 371 response to toxin endoplasmic reticulum lumen carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity all cancers(182;0.13)|Epithelial(162;0.137) Aminoglutethimide(DB00357)|Bezafibrate(DB01393)|Cholestyramine(DB01432)|Moexipril(DB00691) TCCAGTTGCCCTTCGGAGAGT 0.428000 14 10 0 0 1 0 0 DOK6 220164 broad.mit.edu 37 18 67406220 67406220 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr18:67406220G>A ENST00000382713.5 + 6 809 c.619G>A c.(619-621)Gga>Aga p.G207R DOK6_ENST00000584435.1_3'UTR NM_152721.5 NP_689934.2 Q6PKX4 DOK6_HUMAN docking protein 6 207 IRS-type PTB. insulin receptor binding central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 20 Colorectal(73;0.083)|Esophageal squamous(42;0.131) CACAGGAGAAGGACTATTCAC 0.423000 62 123 0 0 1 0 0 UIMC1 51720 broad.mit.edu 37 5 176395771 176395771 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:176395771G>A ENST00000377219.2 - 6 1151 c.985C>T c.(985-987)Cct>Tct p.P329S UIMC1_ENST00000503273.1_5'UTR|UIMC1_ENST00000506128.1_Intron|UIMC1_ENST00000511320.1_Missense_Mutation_p.P329S|UIMC1_ENST00000377227.4_Missense_Mutation_p.P329S NM_016290.4 NP_057374.3 Q96RL1 UIMC1_HUMAN ubiquitin interaction motif containing 1 329 AIR. double-strand break repair|G2/M transition DNA damage checkpoint|histone H2A K63-linked deubiquitination|negative regulation of transcription, DNA-dependent|positive regulation of DNA repair|response to ionizing radiation|transcription, DNA-dependent BRCA1-A complex histone binding|K63-linked polyubiquitin binding NS(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(5)|ovary(4)|pancreas(1)|prostate(1)|skin(1) 21 all_cancers(89;7.96e-05)|Renal(175;0.000269)|Lung NSC(126;0.00476)|all_lung(126;0.00806) Medulloblastoma(196;0.0145)|all_neural(177;0.0325) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) ATCAGAGAAGGAGGTCTAGGT 0.448000 57 93 0 0 1 0 0 PHF3 23469 broad.mit.edu 37 6 64401764 64401764 + Missense_Mutation SNP A A T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:64401764A>T ENST00000262043.3 + 5 2667 c.2327A>T c.(2326-2328)aAg>aTg p.K776M PHF3_ENST00000393387.1_Missense_Mutation_p.K776M Q92576 PHF3_HUMAN PHD finger protein 3 776 multicellular organismal development|transcription, DNA-dependent nucleus zinc ion binding breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6) 75 all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121) LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148) GAAGACAAAAAGACTGAAATA 0.378000 39 90 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179587513 179587513 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:179587513G>A ENST00000589042.1 - 76 22337 c.22113C>T c.(22111-22113)acC>acT p.T7371T TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Silent_p.T7054T|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Silent_p.T6127T|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 7054 Ig-like 55. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TTGTAAAGTAGGTCCTGTATT 0.393000 21 35 0 0 1 0 0 CUZD1 50624 broad.mit.edu 37 10 124596487 124596487 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:124596487C>T ENST00000368904.1 - 7 1626 c.677G>A c.(676-678)gGa>gAa p.G226E CUZD1_ENST00000545804.1_Missense_Mutation_p.G226E|CUZD1_ENST00000392790.1_Missense_Mutation_p.G226E Q86UP6 CUZD1_HUMAN CUB and zona pellucida-like domains 1 226 CUB 2. cell cycle|cell division|cell proliferation|substrate-dependent cell migration, cell attachment to substrate|trypsinogen activation integral to membrane|transport vesicle membrane|zymogen granule membrane NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|stomach(1) 39 all_neural(114;0.169)|Glioma(114;0.222) Colorectal(40;0.126)|COAD - Colon adenocarcinoma(40;0.141) ACAGACTTGTCCAATCAGGCC 0.473000 27 60 0 0 1 0 0 EFCAB6 64800 broad.mit.edu 37 22 43933306 43933306 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr22:43933306C>T ENST00000262726.7 - 29 4252 c.3999G>A c.(3997-3999)aaG>aaA p.K1333K EFCAB6_ENST00000396231.2_Silent_p.K1181K|EFCAB6_ENST00000461800.1_5'UTR NM_022785.3 NP_073622.2 Q5THR3 EFCB6_HUMAN EF-hand calcium binding domain 6 1333 Interaction with PARK7. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus calcium ion binding breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 68 Ovarian(80;0.0247)|all_neural(38;0.025) CGTCCTTCTCCTTGCATTCTT 0.562000 77 161 0 0 1 0 0 PLA2R1 22925 broad.mit.edu 37 2 160901388 160901388 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:160901388G>A ENST00000283243.7 - 2 596 c.390C>T c.(388-390)gtC>gtT p.V130V PLA2R1_ENST00000392771.1_Silent_p.V130V NM_001195641.1|NM_007366.4 NP_001182570.1|NP_031392.3 Q13018 PLA2R_HUMAN phospholipase A2 receptor 1, 180kDa 130 Ricin B-type lectin. endocytosis extracellular space|integral to plasma membrane receptor activity|sugar binding PLA2R1/RBMS1(2) central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1) 60 GCGCCACCTGGACAGAGTACT 0.488000 44 97 0 0 1 0 0 DLG4 1742 broad.mit.edu 37 17 7100290 7100290 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:7100290G>A ENST00000399510.2 - 11 1850 c.998C>T c.(997-999)tCc>tTc p.S333F DLG4_ENST00000399506.2_Missense_Mutation_p.S290F|DLG4_ENST00000302955.6_Missense_Mutation_p.S287F NM_001365.3 NP_001356.1 P78352 DLG4_HUMAN discs, large homolog 4 (Drosophila) 290 PDZ 3. axon guidance|learning|protein complex assembly|protein localization to synapse|signal transduction|synaptic transmission cell junction|cortical cytoskeleton|endocytic vesicle membrane|neuron spine|postsynaptic density|postsynaptic membrane|synaptosome protein binding|protein C-terminus binding breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2) 18 GCGCCGAGGGGAAGTGGGGGT 0.617000 11 33 0 0 1 0 0 REG1B 5968 broad.mit.edu 37 2 79313987 79313987 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:79313987G>A ENST00000305089.3 - 3 214 c.134C>T c.(133-135)tCc>tTc p.S45F NM_006507.3 NP_006498.1 P48304 REG1B_HUMAN regenerating islet-derived 1 beta 45 C-type lectin. cell proliferation extracellular region sugar binding central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(40)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 51 GTAGCAGTAGGAGCGATAGGC 0.512000 6 213 0 0 1 0 0 SDK2 54549 broad.mit.edu 37 17 71346900 71346900 + Missense_Mutation SNP A A C TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:71346900A>C ENST00000392650.3 - 42 5788 c.5788T>G c.(5788-5790)Tgg>Ggg p.W1930G SDK2_ENST00000410094.1_5'UTR|SDK2_ENST00000388726.3_Missense_Mutation_p.W1911G NM_001144952.1 NP_001138424.1 Q58EX2 SDK2_HUMAN sidekick cell adhesion molecule 2 1930 cell adhesion integral to membrane breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 86 AAGAACCACCACTCCTCATAG 0.557000 7 204 0 0 1 0 0 TACC2 10579 broad.mit.edu 37 10 123845956 123845956 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:123845956C>T ENST00000369005.1 + 4 4281 c.3941C>T c.(3940-3942)cCc>cTc p.P1314L TACC2_ENST00000358010.1_Intron|TACC2_ENST00000515603.1_Missense_Mutation_p.P1314L|TACC2_ENST00000334433.3_Missense_Mutation_p.P1314L|TACC2_ENST00000515273.1_Missense_Mutation_p.P1314L|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000453444.2_Missense_Mutation_p.P1314L NM_206862.2 NP_996744.2 O95359 TACC2_HUMAN transforming, acidic coiled-coil containing protein 2 1314 microtubule organizing center|nucleus nuclear hormone receptor binding NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 83 all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197) AGTGGTAGTCCCAAAGCCAGA 0.607000 17 36 0 0 1 0 0 RNF17 56163 broad.mit.edu 37 13 25433214 25433214 + Nonsense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr13:25433214G>A ENST00000255324.5 + 26 3738 c.3686G>A c.(3685-3687)tGg>tAg p.W1229* RNF17_ENST00000381921.1_Nonsense_Mutation_p.W1229*|RNF17_ENST00000339524.3_Nonsense_Mutation_p.W281* NM_001184993.1|NM_031277.2 NP_001171922.1|NP_112567.2 Q9BXT8 RNF17_HUMAN ring finger protein 17 1229 Tudor 3. multicellular organismal development cytoplasm|nucleus hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6) 36 Lung SC(185;0.0225)|Breast(139;0.077) all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524) CCTTATTTCTGGAAAAAAGGA 0.373000 10 40 0 0 1 0 0 S100A7L2 645922 broad.mit.edu 37 1 153409641 153409641 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:153409641C>T ENST00000368725.2 - 3 231 c.232G>A c.(232-234)Gat>Aat p.D78N NM_001045479.1 NP_001038944.2 S100 calcium binding protein A7-like 2 NS(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1) 8 all_lung(78;2.4e-33)|Lung NSC(65;8.13e-32)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.171) ACCTTCTTATCCTTATTATCA 0.403000 12 162 0 0 1 0 0 DYNC1I2 1781 broad.mit.edu 37 2 172585288 172585288 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:172585288C>T ENST00000534253.2 + 14 1487 c.1319C>T c.(1318-1320)cCt>cTt p.P440L DYNC1I2_ENST00000409453.1_Missense_Mutation_p.P440L|DYNC1I2_ENST00000410079.3_Missense_Mutation_p.P432L|DYNC1I2_ENST00000397119.3_Missense_Mutation_p.P440L|DYNC1I2_ENST00000340296.4_Missense_Mutation_p.P414L|DYNC1I2_ENST00000409197.1_Missense_Mutation_p.P414L|DYNC1I2_ENST00000358002.6_Missense_Mutation_p.P432L|DYNC1I2_ENST00000263811.4_Missense_Mutation_p.P434L|DYNC1I2_ENST00000409317.1_Missense_Mutation_p.P434L|DYNC1I2_ENST00000508530.1_Missense_Mutation_p.P414L|DYNC1I2_ENST00000409773.1_Missense_Mutation_p.P440L Q13409 DC1I2_HUMAN dynein, cytoplasmic 1, intermediate chain 2 440 G2/M transition of mitotic cell cycle|interspecies interaction between organisms|microtubule-based movement|transport centrosome|cytosol|dynein complex|microtubule|vesicle microtubule motor activity breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(2)|ovary(1) 15 OV - Ovarian serous cystadenocarcinoma(117;0.198) ATGTCCTTCCCTGTTGGAGAT 0.403000 10 17 0 0 1 0 0 ANKEF1 63926 broad.mit.edu 37 20 10030859 10030859 + Splice_Site SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr20:10030859G>A ENST00000378380.3 + 6 1971 c.1643_splice c.e6+1 p.G548_splice SNAP25-AS1_ENST00000603542.1_RNA|SNAP25-AS1_ENST00000421143.2_RNA|ANKEF1_ENST00000378392.1_Splice_Site_p.G548_splice|ANKEF1_ENST00000488991.1_3'UTR NM_198798.1 NP_942093.1 ankyrin repeat and EF-hand domain containing 1 TCTTGAAAAAGGGTACGCGTC 0.403000 19 45 0 0 1 0 0 KCNK9 51305 broad.mit.edu 37 8 140630570 140630570 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:140630570G>A ENST00000520439.1 - 2 1119 c.1056C>T c.(1054-1056)agC>agT p.S352S KCNK9_ENST00000303015.1_Silent_p.S352S Q9NPC2 KCNK9_HUMAN potassium channel, subfamily K, member 9 352 integral to membrane|membrane fraction potassium channel activity|voltage-gated ion channel activity NS(1)|endometrium(9)|kidney(1)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1) 43 all_cancers(97;3.94e-14)|all_epithelial(106;4.81e-13)|Lung NSC(106;8.18e-05)|all_lung(105;0.00015)|Ovarian(258;0.00235)|Acute lymphoblastic leukemia(118;0.155) Ovarian(118;0.134) BRCA - Breast invasive adenocarcinoma(115;0.0855) GAGAGATGGAGCTAATAGGCG 0.517000 54 125 0 0 1 0 0 SRBD1 55133 broad.mit.edu 37 2 45807058 45807058 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:45807058G>A ENST00000263736.4 - 7 1090 c.1028C>T c.(1027-1029)cCa>cTa p.P343L NM_018079.4 NP_060549.4 Q8N5C6 SRBD1_HUMAN S1 RNA binding domain 1 343 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process hydrolase activity, acting on ester bonds|RNA binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(13)|large_intestine(8)|lung(15)|skin(2)|stomach(1)|urinary_tract(1) 49 all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17) LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154) GAGCTCCCCTGGTTTCTCAAG 0.418000 82 189 0 0 1 0 0 LILRA6 79168 broad.mit.edu 37 19 54745968 54745968 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:54745968G>A ENST00000440558.2 - 3 337 c.289C>T c.(289-291)Cgc>Tgc p.R97C LILRA6_ENST00000396365.2_Missense_Mutation_p.R97C|LILRA6_ENST00000270464.5_Missense_Mutation_p.R97C|LILRA6_ENST00000245621.5_Missense_Mutation_p.R97C|LILRB3_ENST00000407860.2_Missense_Mutation_p.R97C|LILRA6_ENST00000391735.3_Missense_Mutation_p.R97C|LILRA6_ENST00000419410.2_Missense_Mutation_p.R97C leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 6 central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(20)|ovary(3)|skin(2)|urinary_tract(2) 38 all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) TAGTGGCAGCGGTATCTCCCT 0.592000 110 130 0 0 1 0 0 SF3B1 23451 broad.mit.edu 37 2 198274712 198274712 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:198274712G>A ENST00000335508.5 - 7 777 c.686C>T c.(685-687)tCc>tTc p.S229F NM_012433.2 NP_036565.2 O75533 SF3B1_HUMAN splicing factor 3b, subunit 1, 155kDa 229 Interaction with PPP1R8. nuclear mRNA splicing, via spliceosome catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex protein binding NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 633 OV - Ovarian serous cystadenocarcinoma(117;0.246) CCATCTTAAGGAAGGAGTATG 0.408000 Mis myelodysplastic syndrome 31 78 0 0 1 0 0 AP5B1 91056 broad.mit.edu 37 11 65545978 65545978 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:65545978G>A ENST00000532090.2 - 2 2196 c.1986C>T c.(1984-1986)gcC>gcT p.A662A NM_138368.4 NP_612377.4 Q2VPB7 YK046_HUMAN adaptor-related protein complex 5, beta 1 subunit 605 protein binding lung(1) 1 GCCGTACCAGGGCCGGTGCCT 0.672000 3 11 0 0 1 0 0 OR13C4 138804 broad.mit.edu 37 9 107289127 107289127 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:107289127G>A ENST00000277216.3 - 1 363 c.364C>T c.(364-366)Cgt>Tgt p.R122C NM_001001919.1 NP_001001919.1 Q8NGS5 O13C4_HUMAN olfactory receptor, family 13, subfamily C, member 4 122 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|large_intestine(2)|lung(14)|skin(1) 18 GCCACATAACGATCAAATGCC 0.443000 71 131 0 0 1 0 0 TRGV4 6977 broad.mit.edu 37 7 38393347 38393347 + RNA SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:38393347G>A ENST00000390345.2 - 0 656 ATAGACTCCAGAGTCATTTTC 0.463000 31 48 0 0 1 0 0 PFKP 5214 broad.mit.edu 37 10 3155622 3155622 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:3155622C>T ENST00000381075.2 + 15 1483 c.1259C>T c.(1258-1260)gCc>gTc p.A420V PFKP_ENST00000381125.4_Missense_Mutation_p.A428V NM_001242339.1 NP_001229268.1 Q01813 K6PP_HUMAN phosphofructokinase, platelet 428 glycolysis 6-phosphofructokinase complex 6-phosphofructokinase activity|ATP binding|metal ion binding|protein binding breast(2)|central_nervous_system(4)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 31 GBM - Glioblastoma multiforme(1;0.000975)|all cancers(11;0.00351)|Epithelial(11;0.142) ATGAACGCAGCCGTACGCTCA 0.617000 17 32 0 0 1 0 0 ISLR 3671 broad.mit.edu 37 15 74467734 74467734 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr15:74467734G>A ENST00000249842.3 + 2 892 c.535G>A c.(535-537)Gag>Aag p.E179K ISLR_ENST00000395118.1_Missense_Mutation_p.E179K|RP11-665J16.1_ENST00000561647.1_RNA NM_005545.3 NP_005536.1 O14498 ISLR_HUMAN immunoglobulin superfamily containing leucine-rich repeat 179 cell adhesion extracellular region central_nervous_system(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1) 20 GCAGATCAACGAGAACCCCTT 0.642000 29 54 0 0 1 0 0 KIT 3815 broad.mit.edu 37 4 55604627 55604627 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:55604627C>T ENST00000288135.5 + 21 2932 c.2835C>T c.(2833-2835)aaC>aaT p.N945N NM_000222.2|NM_001093772.1 NP_000213.1|NP_001087241.1 P10721 KIT_HUMAN v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog 945 male gonad development|transmembrane receptor protein tyrosine kinase signaling pathway extracellular space|integral to membrane ATP binding|protein binding|receptor signaling protein tyrosine kinase activity NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1) 6411 all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101) LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209) Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171) Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268) GCAGCCCCAACCGACAGAAGC 0.512000 1 """Mis, O""" """GIST, AML, TGCT, mastocytosis, mucosal melanoma""" """GIST, epithelioma""" Piebald trait Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors 43 138 0 0 1 0 0 PCDHGA12 26025 broad.mit.edu 37 5 140812286 140812286 + Missense_Mutation SNP C C A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:140812286C>A ENST00000252085.3 + 1 2102 c.1960C>A c.(1960-1962)Ctc>Atc p.L654I PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGB6_ENST00000520790.1_Intron NM_003735.2|NM_032094.1 NP_003726.1|NP_115265.1 breast(2)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(23)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1) 58 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CCAGCCCCCTCTCTCCGCCAC 0.682000 14 176 1.45105e-14 1.4626e-14 1 1 0 GPR98 84059 broad.mit.edu 37 5 89940674 89940674 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:89940674C>T ENST00000405460.2 + 15 2982 c.2886C>T c.(2884-2886)tcC>tcT p.S962S NM_032119.3 NP_115495.3 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 962 Calx-beta 7. cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6) 269 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) CCATTTACTCCCTTCCAGATG 0.313000 22 46 0 0 1 0 0 HIST1H3D 8351 broad.mit.edu 37 6 26197187 26197187 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:26197187C>T ENST00000377831.5 - 2 745 c.292G>A c.(292-294)Gag>Aag p.E98K HIST1H3D_ENST00000356476.2_Missense_Mutation_p.E98K NM_003530.3 NP_003521.2 P68431 H31_HUMAN histone cluster 1, H3d 98 blood coagulation|nucleosome assembly|regulation of gene silencing|S phase nucleoplasm|nucleosome DNA binding|protein binding p.E98*(1) NS(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6) 14 all_hematologic(11;0.196) AGGTAGGCCTCGCAGGCCTCC 0.587000 9 246 0 0 1 0 0 CTRC 11330 broad.mit.edu 37 1 15766879 15766879 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:15766879C>T ENST00000375949.4 + 2 150 c.124C>T c.(124-126)Ccc>Tcc p.P42S CTRC_ENST00000483406.1_3'UTR|CTRC_ENST00000375943.2_Intron NM_007272.2 NP_009203.2 Q99895 CTRC_HUMAN chymotrypsin C (caldecrin) 42 Peptidase S1. proteolysis serine-type endopeptidase activity endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|prostate(1) 13 Breast(348;0.000207)|all_lung(284;0.00021)|Colorectal(325;0.000257)|Lung NSC(340;0.000269)|Renal(390;0.000518)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)|Hepatocellular(190;0.0634) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.56e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) CCACAGCTGGCCCTGGCAGGT 0.687000 14 23 0 0 1 0 0 TRDN 10345 broad.mit.edu 37 6 123539771 123539771 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:123539771G>A ENST00000334268.4 - 40 2458 c.2141C>T c.(2140-2142)cCa>cTa p.P714L TRDN_ENST00000398178.3_Missense_Mutation_p.P722L Q13061 TRDN_HUMAN triadin 722 muscle contraction integral to membrane|plasma membrane|sarcoplasmic reticulum membrane receptor binding NS(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2) 41 GBM - Glioblastoma multiforme(226;0.184) CTTCTGTCCTGGAGAATTTGC 0.433000 28 14 0 0 1 0 0 PRL 5617 broad.mit.edu 37 6 22294698 22294698 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:22294698G>A ENST00000306482.1 - 2 662 c.144C>T c.(142-144)gaC>gaT p.D48D RP3-404K8.2_ENST00000561912.1_RNA NM_000948.5|NM_001163558.2 NP_000939.1|NP_001157030.1 P01236 PRL_HUMAN prolactin 48 cell proliferation|cell surface receptor linked signaling pathway|female pregnancy|lactation|positive regulation of JAK-STAT cascade|regulation of multicellular organism growth cytosol|extracellular region hormone activity|prolactin receptor binding NS(1)|endometrium(2)|large_intestine(6)|lung(6)|prostate(1) 16 Ovarian(93;0.163) CGACGGCGCGGTCAAACAGGT 0.592000 20 106 0 0 1 0 0 SELL 6402 broad.mit.edu 37 1 169672508 169672508 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:169672508G>A ENST00000236147.4 - 6 1039 c.879C>T c.(877-879)agC>agT p.S293S SELL_ENST00000463108.1_5'UTR|C1orf112_ENST00000498289.1_Intron NM_000655.4 NP_000646.2 P14151 LYAM1_HUMAN selectin L 280 Sushi 2. blood coagulation|cell adhesion|leukocyte migration|regulation of immune response integral to plasma membrane glycosphingolipid binding|heparin binding|protease binding|sugar binding NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(3)|lung(5)|urinary_tract(1) 15 all_hematologic(923;0.208) CAGAGGTAAAGCTGAAGCTGG 0.413000 6 26 0 0 1 0 0 ZNF117 51351 broad.mit.edu 37 7 64439291 64439291 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:64439291G>A ENST00000282869.5 - 4 1942 c.658C>T c.(658-660)Ccc>Tcc p.P220S NM_015852.3 NP_056936.2 Q03924 ZN117_HUMAN zinc finger protein 117 220 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|prostate(1)|skin(1) 22 Lung NSC(55;0.0295)|all_lung(88;0.0691) CATTTGTAGGGAATTTCCCCA 0.368000 52 152 0 0 1 0 0 ATP8B2 57198 broad.mit.edu 37 1 154315303 154315303 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:154315303C>T ENST00000368489.3 + 15 1418 c.1418C>T c.(1417-1419)cCt>cTt p.P473L NM_020452.3 NP_065185.1 P98198 AT8B2_HUMAN ATPase, aminophospholipid transporter, class I, type 8B, member 2 459 ATP biosynthetic process plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity IL6R/ATP8B2(2) breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 51 all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877) LUSC - Lung squamous cell carcinoma(543;0.185) TCCTTCAATCCTCTGGCTGAC 0.547000 5 194 0 0 1 0 0 COL6A5 256076 broad.mit.edu 37 3 130174474 130174474 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:130174474G>A ENST00000265379.6 + 37 7248 c.6754G>A c.(6754-6756)Gat>Aat p.D2252N COL6A5_ENST00000432398.2_Missense_Mutation_p.D2252N A8TX70 CO6A5_HUMAN collagen, type VI, alpha 5 2252 Nonhelical region. axon guidance|cell adhesion collagen endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1) 44 TTATGAAAAAGATCAAAAATC 0.333000 4 50 0 0 1 0 0 GCAT 23464 broad.mit.edu 37 22 38206039 38206039 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr22:38206039C>T ENST00000323205.6 + 2 343 c.280C>T c.(280-282)Ctt>Ttt p.L94F GCAT_ENST00000248924.6_Missense_Mutation_p.L68F|GCAT_ENST00000415371.1_Intron NM_001171690.1 NP_001165161.1 O75600 KBL_HUMAN glycine C-acetyltransferase 68 biosynthetic process|cellular amino acid metabolic process glycine C-acetyltransferase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups p.L68F(1) haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1) 12 Melanoma(58;0.045) Glycine(DB00145)|Pyridoxal Phosphate(DB00114) CTCAGGAATCCTTAACTTCTG 0.592000 13 48 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179416423 179416423 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:179416423C>T ENST00000589042.1 - 335 91428 c.91204G>A c.(91204-91206)Gaa>Aaa p.E30402K TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E21462K|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E28761K|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E27834K|TTN_ENST00000460472.2_Missense_Mutation_p.E21337K|TTN_ENST00000342175.6_Missense_Mutation_p.E21529K|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 28761 Ig-like 137. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GCAGAATTTTCAGCATATACA 0.393000 32 75 0 0 1 0 0 PHGDH 26227 broad.mit.edu 37 1 120283010 120283010 + Splice_Site SNP T T G TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:120283010T>G ENST00000369407.3 + 8 2352 c.843_splice c.e8-1 p.V282_splice PHGDH_ENST00000482968.1_3'UTR|PHGDH_ENST00000369409.4_Splice_Site_p.V316_splice O43175 SERA_HUMAN phosphoglycerate dehydrogenase 316 brain development|L-serine biosynthetic process electron carrier activity|NAD binding|phosphoglycerate dehydrogenase activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(2) 18 all_cancers(5;1.18e-09)|all_epithelial(5;2.16e-10)|Melanoma(3;1.93e-05)|all_neural(166;0.219) all_lung(203;3.66e-05)|Lung NSC(69;0.000202)|all_epithelial(167;0.0347) Lung(183;0.0111)|LUSC - Lung squamous cell carcinoma(189;0.0593) NADH(DB00157) CCTCTGCAGGTGAATGCCCAG 0.587000 18 44 0 0 1 0 0 OR8H3 390152 broad.mit.edu 37 11 55889915 55889915 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:55889915G>A ENST00000313472.3 + 1 67 c.67G>A c.(67-69)Gag>Aag p.E23K NM_001005201.1 NP_001005201.1 Q8N146 OR8H3_HUMAN olfactory receptor, family 8, subfamily H, member 3 23 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1) 42 Esophageal squamous(21;0.00693) AGACTCTGAAGAGGTCCAGAT 0.453000 5 241 0 0 1 0 0 GALNT5 11227 broad.mit.edu 37 2 158115286 158115286 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:158115286C>T ENST00000259056.4 + 1 1177 c.692C>T c.(691-693)tCa>tTa p.S231L NM_014568.1 NP_055383.1 Q7Z7M9 GALT5_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 5 (GalNAc-T5) 231 glycosaminoglycan biosynthetic process Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding breast(4)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2) 56 AAGCAGCGATCACAGGCAGTA 0.498000 28 57 0 0 1 0 0 PXDNL 137902 broad.mit.edu 37 8 52384829 52384829 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:52384829C>T ENST00000356297.4 - 8 830 c.730G>A c.(730-732)Gag>Aag p.E244K PXDNL_ENST00000543296.1_Missense_Mutation_p.E244K NM_144651.4 NP_653252.3 A1KZ92 PXDNL_HUMAN peroxidasin homolog (Drosophila)-like 244 Ig-like C2-type 1. hydrogen peroxide catabolic process extracellular space heme binding|peroxidase activity NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 48 all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015) GATGGTACCTCCACATCCTGC 0.433000 51 103 0 0 1 0 0 VCAN 1462 broad.mit.edu 37 5 82815582 82815582 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:82815582C>T ENST00000265077.3 + 7 2022 c.1457C>T c.(1456-1458)tCg>tTg p.S486L VCAN_ENST00000502527.2_Intron|VCAN_ENST00000512590.2_Missense_Mutation_p.S438L|VCAN_ENST00000342785.4_Missense_Mutation_p.S486L|VCAN_ENST00000343200.5_Intron NM_004385.4 NP_004376.2 P13611 CSPG2_HUMAN versican 486 GAG-alpha (glucosaminoglycan attachment domain). cell adhesion|cell recognition|glial cell migration extracellular space|proteinaceous extracellular matrix calcium ion binding|hyaluronic acid binding|sugar binding NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 190 Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142) OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29) ACACAAGAATCGGTTACACAG 0.408000 54 109 0 0 1 0 0 GRIP2 80852 broad.mit.edu 37 3 14537990 14537990 + RNA SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:14537990C>T ENST00000273083.3 - 0 2822 Q9C0E4 GRIP2_HUMAN glutamate receptor interacting protein 2 synaptic transmission cytosol|plasma membrane protein binding endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1) 25 GCTCGTACCTCCCGGCCCCTC 0.642000 11 23 0 0 1 0 0 KRT77 374454 broad.mit.edu 37 12 53096776 53096776 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:53096776G>A ENST00000341809.3 - 1 471 c.443C>T c.(442-444)cCa>cTa p.P148L KRT77_ENST00000537195.1_5'UTR NM_175078.2 NP_778253.2 Q7Z794 K2C1B_HUMAN keratin 77 148 Head. keratin filament structural molecule activity NS(2)|endometrium(2)|large_intestine(3)|lung(11)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2) 25 CAGGTGAAGTGGCTCTAGGAG 0.517000 56 120 0 0 1 0 0 RBBP8 5932 broad.mit.edu 37 18 20529580 20529580 + Splice_Site SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr18:20529580G>A ENST00000399722.2 + 4 503 c.e4-1 RBBP8_ENST00000327155.5_Splice_Site|RBBP8_ENST00000399725.2_Splice_Site|RBBP8_ENST00000360790.5_Splice_Site NM_203291.1 NP_976036.1 Q99708 COM1_HUMAN retinoblastoma binding protein 8 cell cycle checkpoint|DNA double-strand break processing involved in repair via single-strand annealing|meiosis|regulation of transcription from RNA polymerase II promoter nucleus damaged DNA binding|protein binding|single-stranded DNA specific endodeoxyribonuclease activity central_nervous_system(1)|cervix(2)|endometrium(5)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1) 24 all_cancers(21;4.34e-05)|all_epithelial(16;8.3e-07)|Lung NSC(20;0.0107)|Colorectal(14;0.0202)|all_lung(20;0.0291)|Ovarian(20;0.19) OV - Ovarian serous cystadenocarcinoma(1;0.00196) TTGACCTTTAGAGATGCACAA 0.323000 Homologous recombination 7 172 0 0 1 0 0 LDLR 3949 broad.mit.edu 37 19 11227551 11227551 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:11227551C>T ENST00000558518.1 + 12 1909 c.1722C>T c.(1720-1722)cgC>cgT p.R574R LDLR_ENST00000535915.1_Silent_p.R533R|LDLR_ENST00000558013.1_Silent_p.R574R|LDLR_ENST00000455727.2_Silent_p.R406R|LDLR_ENST00000545707.1_Silent_p.R447R|LDLR_ENST00000557933.1_Silent_p.R574R NM_000527.4|NM_001195798.1 NP_000518.1|NP_001182727.1 P01130 LDLR_HUMAN low density lipoprotein receptor 574 cholesterol homeostasis|cholesterol metabolic process|interspecies interaction between organisms|intestinal cholesterol absorption|low-density lipoprotein particle clearance|receptor-mediated endocytosis clathrin-coated endocytic vesicle membrane|coated pit|early endosome|endosome membrane|external side of plasma membrane|integral to plasma membrane|low-density lipoprotein particle|lysosome calcium ion binding|low-density lipoprotein receptor activity|protein binding|very-low-density lipoprotein particle receptor activity p.?(1) breast(2)|endometrium(2)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 Lung NSC(9;0.000245)|Renal(1328;0.0007)|Hepatocellular(1079;0.0524) GBM - Glioblastoma multiforme(1328;1.36e-05)|STAD - Stomach adenocarcinoma(1328;0.000766)|Lung(535;0.197) Methyl aminolevulinate(DB00992)|Porfimer(DB00707) TCAGTGGCCGCCTCTACTGGG 0.587000 14 347 0 0 1 0 0 SLC22A23 63027 broad.mit.edu 37 6 3273452 3273452 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:3273452C>T ENST00000436008.2 - 11 2384 c.1922G>A c.(1921-1923)gGg>gAg p.G641E SLC22A23_ENST00000490273.1_Missense_Mutation_p.G352E|PSMG4_ENST00000451246.2_Intron|SLC22A23_ENST00000406686.3_Missense_Mutation_p.G633E|SLC22A23_ENST00000380302.4_Missense_Mutation_p.G352E A1A5C7 S22AN_HUMAN solute carrier family 22, member 23 633 ion transport integral to membrane transmembrane transporter activity endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1) 14 Ovarian(93;0.0493) all_hematologic(90;0.0905) GTAGTGCTCCCCGTTAGAAAT 0.607000 59 262 0 0 1 0 0 GTSE1 51512 broad.mit.edu 37 22 46704245 46704245 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr22:46704245G>A ENST00000454366.1 + 4 379 c.167G>A c.(166-168)gGa>gAa p.G56E NM_016426.6 NP_057510.4 Q9NYZ3 GTSE1_HUMAN G-2 and S-phase expressed 1 37 DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G2 phase of mitotic cell cycle|microtubule-based process cytoplasmic microtubule NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3) 27 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.00462) GTCTTCTTCGGACCCTTTGGA 0.388000 78 182 0 0 1 0 0 APOB 338 broad.mit.edu 37 2 21228576 21228576 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:21228576G>A ENST00000233242.1 - 26 11291 c.11164C>T c.(11164-11166)Cct>Tct p.P3722S NM_000384.2 NP_000375.2 P04114 APOB_HUMAN apolipoprotein B 3722 cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6) 305 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) ACTTTTACAGGGATGGAGAAT 0.408000 66 142 0 0 1 0 0 LDB3 11155 broad.mit.edu 37 10 88477792 88477792 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:88477792C>T ENST00000429277.2 + 11 1908 c.1763C>T c.(1762-1764)tCc>tTc p.S588F LDB3_ENST00000458213.2_Missense_Mutation_p.S473F|LDB3_ENST00000263066.6_Missense_Mutation_p.S473F|LDB3_ENST00000361373.4_Missense_Mutation_p.S583F|LDB3_ENST00000352360.5_Missense_Mutation_p.S326F NM_001171610.1 NP_001165081.1 O75112 LDB3_HUMAN LIM domain binding 3 583 LIM zinc-binding 1. cytoskeleton|perinuclear region of cytoplasm|pseudopodium zinc ion binding breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|soft_tissue(1) 25 TGCAAGACTTCCCTGGCAGAT 0.527000 6 141 0 0 1 0 0 OR9A4 130075 broad.mit.edu 37 7 141618736 141618736 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:141618736G>A ENST00000548136.1 + 1 120 c.61G>A c.(61-63)Gaa>Aaa p.E21K MGAM_ENST00000497554.1_Intron NM_001001656.1 NP_001001656.1 Q8NGU2 OR9A4_HUMAN olfactory receptor, family 9, subfamily A, member 4 21 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(2)|large_intestine(9)|lung(7)|prostate(1)|skin(2) 22 Melanoma(164;0.0171) TGGCTCTGAAGAACTACATCA 0.378000 119 345 0 0 1 0 0 ALG12 79087 broad.mit.edu 37 22 50307074 50307074 + Missense_Mutation SNP A A T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr22:50307074A>T ENST00000330817.5 - 3 527 c.254T>A c.(253-255)cTt>cAt p.L85H NM_024105.3 NP_077010.1 Q9BV10 ALG12_HUMAN ALG12, alpha-1,6-mannosyltransferase 85 dolichol-linked oligosaccharide biosynthetic process|GPI anchor biosynthetic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine integral to membrane|intrinsic to endoplasmic reticulum membrane endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(3) 12 all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164) BRCA - Breast invasive adenocarcinoma(115;0.199)|LUAD - Lung adenocarcinoma(64;0.247) TAACAGCGAAAGCACGTAAAC 0.557000 36 104 0 0 1 0 0 SNHG14 104472715 broad.mit.edu 37 15 25315651 25315651 + RNA SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr15:25315651C>T ENST00000549804.2 + 0 678 SNORD116-8_ENST00000384365.1_RNA|SNHG14_ENST00000551077.1_RNA CTCATACCGTCGTTCTCATCG 0.488000 65 114 0 0 1 0 0 ZNF682 91120 broad.mit.edu 37 19 20117565 20117565 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:20117565C>T ENST00000397165.2 - 4 906 c.746G>A c.(745-747)aGa>aAa p.R249K ZNF682_ENST00000397162.1_Missense_Mutation_p.R217K|ZNF682_ENST00000358523.5_Missense_Mutation_p.R217K|ZNF682_ENST00000597972.1_Missense_Mutation_p.R255K|ZNF682_ENST00000596019.1_Intron|ZNF682_ENST00000595736.1_Missense_Mutation_p.R173K NM_033196.2 NP_149973.1 O95780 ZN682_HUMAN zinc finger protein 682 249 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1) 14 AGTATGGATTCTCTTATGTTT 0.373000 10 98 0 0 1 0 0 CCDC87 55231 broad.mit.edu 37 11 66358307 66358307 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:66358307G>A ENST00000333861.3 - 1 2247 c.2180C>T c.(2179-2181)cCc>cTc p.P727L NM_018219.2 NP_060689.2 Q9NVE4 CCD87_HUMAN coiled-coil domain containing 87 727 central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 28 CAGCTGAATGGGCTTCAGGGC 0.547000 90 217 0 0 1 0 0 CRNN 49860 broad.mit.edu 37 1 152382581 152382581 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:152382581C>T ENST00000271835.3 - 3 1039 c.977G>A c.(976-978)aGa>aAa p.R326K RP1-91G5.3_ENST00000411804.1_RNA NM_016190.2 NP_057274.1 Q9UBG3 CRNN_HUMAN cornulin 326 Gln-rich. cell-cell adhesion|response to heat cytoplasm|membrane calcium ion binding breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 35 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) CTCAGTCCCTCTGTTCTGGCC 0.607000 8 474 0 0 1 0 0 COL9A3 1299 broad.mit.edu 37 20 61453109 61453109 + Splice_Site SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr20:61453109G>A ENST00000343916.3 + 8 373 c.369_splice c.e8-1 p.G124_splice NM_001853.3 NP_001844.3 Q14050 CO9A3_HUMAN collagen, type IX, alpha 3 124 Triple-helical region 3 (COL3). axon guidance collagen type IX breast(1)|endometrium(3)|large_intestine(1)|lung(18)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 28 Breast(26;5.68e-08) TTCCCTCCAGGGAGAGGCAGG 0.692000 16 14 0 0 1 0 0 UGT2A3 79799 broad.mit.edu 37 4 69817061 69817061 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:69817061C>T ENST00000251566.4 - 1 448 c.418G>A c.(418-420)Gaa>Aaa p.E140K UGT2A3_ENST00000420231.2_5'UTR NM_024743.3 NP_079019.3 Q6UWM9 UD2A3_HUMAN UDP glucuronosyltransferase 2 family, polypeptide A3 140 integral to membrane glucuronosyltransferase activity NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 36 TAGTTGGTTTCCTGTAGCTTC 0.368000 37 67 0 0 1 0 0 MAPK8IP3 23162 broad.mit.edu 37 16 1816952 1816952 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr16:1816952C>T ENST00000250894.4 + 25 3222 c.3065C>T c.(3064-3066)gCc>gTc p.A1022V MAPK8IP3_ENST00000356010.5_Missense_Mutation_p.A1016V NM_015133.3 NP_055948.2 Q9UPT6 JIP3_HUMAN mitogen-activated protein kinase 8 interacting protein 3 1022 vesicle-mediated transport Golgi membrane kinesin binding|MAP-kinase scaffold activity|protein kinase binding NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3) 42 GGGACCCTGGCCATCTTCCAC 0.657000 7 147 0 0 1 0 0 CABIN1 23523 broad.mit.edu 37 22 24560519 24560519 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr22:24560519C>T ENST00000398319.2 + 30 5283 c.4898C>T c.(4897-4899)cCa>cTa p.P1633L CABIN1_ENST00000337989.7_Missense_Mutation_p.P58L|CABIN1_ENST00000263119.5_Missense_Mutation_p.P1633L|CABIN1_ENST00000405822.2_Missense_Mutation_p.P1554L NM_001199281.1 NP_001186210.1 Q9Y6J0 CABIN_HUMAN calcineurin binding protein 1 1633 cell surface receptor linked signaling pathway|chromatin modification nucleus protein phosphatase inhibitor activity breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 65 CAGCGGACCCCAGACCAGGGC 0.647000 21 40 0 0 1 0 0 SLC38A4 55089 broad.mit.edu 37 12 47163183 47163183 + Missense_Mutation SNP A A T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:47163183A>T ENST00000447411.1 - 14 1534 c.1328T>A c.(1327-1329)tTt>tAt p.F443Y SLC38A4_ENST00000266579.4_Missense_Mutation_p.F443Y NM_001143824.1 NP_001137296.1 Q969I6 S38A4_HUMAN solute carrier family 38, member 4 443 cellular nitrogen compound metabolic process|sodium ion transport integral to membrane|plasma membrane amino acid transmembrane transporter activity|symporter activity NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|skin(1) 21 Lung SC(27;0.192)|Renal(347;0.236) TCGTTTGGGAAATAACAGTGT 0.353000 48 90 0 0 1 0 0 CR2 1380 broad.mit.edu 37 1 207639899 207639899 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:207639899C>T ENST00000367057.3 + 2 276 c.87C>T c.(85-87)atC>atT p.I29I CR2_ENST00000367058.3_Silent_p.I29I|CR2_ENST00000458541.2_Silent_p.I29I|CR2_ENST00000367059.3_Silent_p.I29I NM_001006658.2 NP_001006659.1 P20023 CR2_HUMAN complement component (3d/Epstein Barr virus) receptor 2 29 Sushi 1. complement activation, classical pathway|innate immune response integral to membrane|plasma membrane complement receptor activity|protein homodimerization activity NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1) 69 CTCCGCCTATCCTAAATGGCC 0.413000 125 161 0 0 1 0 0 IDH3B 3420 broad.mit.edu 37 20 2641388 2641388 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr20:2641388G>A ENST00000380843.4 - 6 516 c.486C>T c.(484-486)atC>atT p.I162I IDH3B_ENST00000380851.5_Silent_p.I162I|IDH3B_ENST00000488299.1_5'UTR NM_006899.3 NP_008830.2 O43837 IDH3B_HUMAN isocitrate dehydrogenase 3 (NAD+) beta 162 isocitrate metabolic process|tricarboxylic acid cycle mitochondrial matrix electron carrier activity|isocitrate dehydrogenase (NAD+) activity|magnesium ion binding|NAD binding breast(1)|endometrium(3)|kidney(2)|lung(7)|prostate(1) 14 NADH(DB00157) GCTCTCGAATGATCACCAGGT 0.532000 45 78 0 0 1 0 0 OR13C5 138799 broad.mit.edu 37 9 107360803 107360803 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:107360803G>A ENST00000374779.2 - 1 985 c.892C>T c.(892-894)Ctt>Ttt p.L298F NM_001004482.1 NP_001004482.1 Q8NGS8 O13C5_HUMAN olfactory receptor, family 13, subfamily C, member 5 298 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(4)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(4) 28 TTGTTTCTAAGACTGTAGATT 0.338000 43 68 0 0 1 0 0 NFATC2 4773 broad.mit.edu 37 20 50140616 50140616 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr20:50140616G>A ENST00000371564.3 - 2 383 c.164C>T c.(163-165)cCc>cTc p.P55L NFATC2_ENST00000396009.3_Missense_Mutation_p.P55L|NFATC2_ENST00000414705.1_Missense_Mutation_p.P35L NM_001258296.1|NM_012340.4 NP_001245225.1|NP_036472.2 Q13469 NFAC2_HUMAN nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2 55 B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug actin cytoskeleton|nucleus|plasma membrane protein binding|sequence-specific DNA binding transcription factor activity EWSR1/NFATC2(9) breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1) 53 Hepatocellular(150;0.248) GGGTCCGGAGGGTGGGCTGGC 0.582000 31 78 0 0 1 0 0 NAT1 9 broad.mit.edu 37 8 18079652 18079652 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:18079652C>T ENST00000539092.1 + 5 787 c.96C>T c.(94-96)atC>atT p.I32I NAT1_ENST00000545197.1_Silent_p.I94I|NAT1_ENST00000535084.1_Silent_p.I32I|NAT1_ENST00000517492.1_Silent_p.I32I|NAT1_ENST00000520546.1_Silent_p.I32I|NAT1_ENST00000541942.1_Silent_p.I32I|NAT1_ENST00000517441.1_3'UTR|NAT1_ENST00000307719.4_Silent_p.I32I|NAT1_ENST00000518029.1_Silent_p.I32I NM_001160170.1|NM_001160172.1 NP_001153642.1|NP_001153644.1 P18440 ARY1_HUMAN N-acetyltransferase 1 (arylamine N-acetyltransferase) 32 xenobiotic metabolic process cytosol arylamine N-acetyltransferase activity NS(1)|breast(1)|endometrium(3)|kidney(1)|lung(2)|urinary_tract(1) 9 Colorectal(111;0.0519)|COAD - Colon adenocarcinoma(73;0.208) AACACCAGATCCGAGCTGTTC 0.418000 17 152 0 0 1 0 0 GRIN2A 2903 broad.mit.edu 37 16 10032019 10032019 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr16:10032019G>A ENST00000396573.2 - 4 1113 c.804C>T c.(802-804)atC>atT p.I268I GRIN2A_ENST00000330684.3_Silent_p.I268I|GRIN2A_ENST00000566670.1_5'UTR|GRIN2A_ENST00000562109.1_Silent_p.I268I|GRIN2A_ENST00000535259.1_Silent_p.I111I|GRIN2A_ENST00000404927.2_Silent_p.I268I|GRIN2A_ENST00000396575.2_Silent_p.I268I NM_000833.3 NP_000824.1 Q12879 NMDE1_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2A 268 response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1) 198 Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) ACTCTTTTGGGATGAGCTCCG 0.557000 41 71 0 0 1 0 0 PARK2 5071 broad.mit.edu 37 6 162475131 162475131 + Missense_Mutation SNP T T A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:162475131T>A ENST00000366898.1 - 5 712 c.610A>T c.(610-612)Act>Tct p.T204S PARK2_ENST00000366892.1_Missense_Mutation_p.T204S|PARK2_ENST00000366897.1_Intron|PARK2_ENST00000366896.1_Intron|PARK2_ENST00000338468.3_Missense_Mutation_p.T13S|PARK2_ENST00000366894.1_Missense_Mutation_p.T13S NM_004562.2 NP_004553.2 O60260 PRKN2_HUMAN parkin RBR E3 ubiquitin protein ligase 204 SYT11 binding 1. aggresome assembly|central nervous system development|mitochondrion degradation|negative regulation of actin filament bundle assembly|negative regulation of cell death|negative regulation of protein phosphorylation|negative regulation of release of cytochrome c from mitochondria|neuron death|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autoubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein monoubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of autophagy|regulation of reactive oxygen species metabolic process aggresome|cytosol|endoplasmic reticulum|Golgi apparatus|mitochondrion|nucleus|perinuclear region of cytoplasm chaperone binding|PDZ domain binding|protein kinase binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 39 all_cancers(1;8.13e-65)|all_epithelial(1;5.77e-64)|Colorectal(1;9.65e-15)|all_lung(1;1.66e-13)|Lung NSC(1;7.54e-11)|Melanoma(1;1.75e-09)|Breast(66;7.81e-05)|Ovarian(120;0.000981)|Prostate(117;0.0288)|Esophageal squamous(34;0.102) UCEC - Uterine corpus endometrioid carcinoma (4;0.0663)|all cancers(1;1.9e-63)|Epithelial(1;1.5e-59)|Colorectal(1;2.16e-23)|OV - Ovarian serous cystadenocarcinoma(65;3.53e-20)|COAD - Colon adenocarcinoma(1;2.11e-15)|STAD - Stomach adenocarcinoma(1;4.64e-07)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|READ - Rectum adenocarcinoma(1;2.95e-06)|GBM - Glioblastoma multiforme(2;7.23e-06)|Lung(1;0.00163)|KIRC - Kidney renal clear cell carcinoma(4;0.00371)|LUSC - Lung squamous cell carcinoma(1;0.00442)|Kidney(4;0.0046) ACTGCACTAGTCCCAGGGCAG 0.418000 26 70 0 0 1 0 0 OR6Y1 391112 broad.mit.edu 37 1 158517122 158517122 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:158517122G>A ENST00000302617.3 - 1 773 c.774C>T c.(772-774)tcC>tcT p.S258S NM_001005189.1 NP_001005189.1 Q8NGX8 OR6Y1_HUMAN olfactory receptor, family 6, subfamily Y, member 1 258 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 30 all_hematologic(112;0.0378) AAAGTGTCATGGAATAGAAGA 0.498000 41 180 0 0 1 0 0 TMEM151A 256472 broad.mit.edu 37 11 66061992 66061992 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:66061992G>A ENST00000327259.4 + 2 419 c.275G>A c.(274-276)aGc>aAc p.S92N NM_153266.3 NP_694998.1 Q8N4L1 T151A_HUMAN transmembrane protein 151A 92 integral to membrane central_nervous_system(1)|kidney(4)|lung(6) 11 TACCCGGCCAGCCCCTGCTCC 0.721000 23 38 0 0 1 0 0 GJA5 2702 broad.mit.edu 37 1 147230659 147230659 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:147230659C>T ENST00000271348.2 - 2 849 c.688G>A c.(688-690)Ggc>Agc p.G230S GJA5_ENST00000369237.1_Missense_Mutation_p.G230S NM_005266.5|NM_181703.2 NP_005257.2|NP_859054.1 P36382 CXA5_HUMAN gap junction protein, alpha 5, 40kDa 230 angiogenesis|cell-cell junction assembly|muscle contraction integral to membrane breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(1) 20 all_hematologic(923;0.0276) LUSC - Lung squamous cell carcinoma(543;0.202) TTCTTCCAGCCCAGGTGGTAG 0.552000 8 94 0 0 1 0 0 PCDHGA8 9708 broad.mit.edu 37 5 140773316 140773316 + Silent SNP T T C TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:140773316T>C ENST00000398604.2 + 1 936 c.936T>C c.(934-936)tgT>tgC p.C312C PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron NM_032088.1 NP_114477.1 endometrium(6)|kidney(6)|large_intestine(6)|lung(30)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1) 51 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ATGAAGAATGTTCATTTTATG 0.363000 95 160 0 0 1 0 0 SLC9A3 6550 broad.mit.edu 37 5 484700 484700 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:484700G>A ENST00000264938.3 - 5 876 c.867C>T c.(865-867)ttC>ttT p.F289F SLC9A3_ENST00000514375.1_Silent_p.F289F NM_004174.2 NP_004165.2 P48764 SL9A3_HUMAN solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3 289 cell surface|integral to membrane sodium:hydrogen antiporter activity NS(2)|biliary_tract(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(16)|prostate(3)|skin(2)|urinary_tract(1) 37 Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863) TGATGAACACGAAGCCGGGCT 0.632000 28 64 0 0 1 0 0 QRFPR 84109 broad.mit.edu 37 4 122254012 122254012 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:122254012C>T ENST00000394427.2 - 4 1172 c.761G>A c.(760-762)cGa>cAa p.R254Q QRFPR_ENST00000334383.5_Intron NM_198179.2 NP_937822.2 Q96P65 QRFPR_HUMAN pyroglutamylated RFamide peptide receptor 254 VILFLLPLMVMLILYSKIGYELWIKKRVGDGSVLRTIHGKE MSKIAR -> SSSSSCLLW (in Ref. 1; AAL26488). plasma membrane neuropeptide Y receptor activity p.R254Q(1) endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|prostate(2)|skin(3)|stomach(1) 28 ATGAATAGTTCGAAGCACTGA 0.353000 17 42 0 0 1 0 0 HMGB4 127540 broad.mit.edu 37 1 34330148 34330148 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:34330148C>T ENST00000522796.1 + 4 2261 c.356C>T c.(355-357)tCg>tTg p.S119L CSMD2_ENST00000373381.4_Intron|HMGB4_ENST00000425537.1_3'UTR|HMGB4_ENST00000519684.1_Missense_Mutation_p.S119L B2R4X7 B2R4X7_HUMAN high mobility group box 4 119 nucleus DNA binding NS(1)|breast(1)|large_intestine(1)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 12 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211) CCGAACTGGTCGGTGGTGCAG 0.567000 55 81 0 0 1 0 0 BAZ2B 29994 broad.mit.edu 37 2 160206323 160206323 + Missense_Mutation SNP G G T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:160206323G>T ENST00000392783.2 - 28 5254 c.4759C>A c.(4759-4761)Cag>Aag p.Q1587K BAZ2B_ENST00000392782.1_Missense_Mutation_p.Q1551K|BAZ2B_ENST00000355831.2_Missense_Mutation_p.Q1553K|BAZ2B_ENST00000343439.5_Missense_Mutation_p.Q1487K NM_013450.2 NP_038478.2 Q9UIF8 BAZ2B_HUMAN bromodomain adjacent to zinc finger domain, 2B 1587 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1) 82 GGCTGAGACTGAGGAGTCACC 0.448000 42 77 1.59932e-28 1.61773e-28 1 1 0 CTTNBP2 83992 broad.mit.edu 37 7 117432246 117432246 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:117432246G>A ENST00000160373.3 - 4 1095 c.1004C>T c.(1003-1005)cCc>cTc p.P335L NM_033427.2 NP_219499.1 Q8WZ74 CTTB2_HUMAN cortactin binding protein 2 335 breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 83 Lung NSC(10;0.0018)|all_lung(10;0.002) LUSC - Lung squamous cell carcinoma(290;0.133) AGAAACTAGGGGACTCCCTGT 0.502000 84 201 0 0 1 0 0 GFRA1 2674 broad.mit.edu 37 10 117849293 117849293 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:117849293C>T ENST00000439649.3 - 8 1508 c.1141G>A c.(1141-1143)Gaa>Aaa p.E381K GFRA1_ENST00000544592.1_Missense_Mutation_p.E265K|GFRA1_ENST00000369236.1_Missense_Mutation_p.E381K|GFRA1_ENST00000355422.6_Missense_Mutation_p.E386K NM_001145453.1 NP_001138925.1 P56159 GFRA1_HUMAN GDNF family receptor alpha 1 386 axon guidance anchored to membrane|extrinsic to membrane|plasma membrane glial cell-derived neurotrophic factor receptor activity endometrium(2)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1) 26 Lung NSC(174;0.21) all cancers(201;0.0337) GTGGGAATTTCATTCTCAGAC 0.577000 72 137 0 0 1 0 0 SNCAIP 9627 broad.mit.edu 37 5 121786651 121786651 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:121786651C>T ENST00000261367.7 + 12 3678 c.2250C>T c.(2248-2250)ccC>ccT p.P750P CTC-210G5.1_ENST00000506053.1_RNA|CTC-210G5.1_ENST00000503529.1_RNA|SNCAIP_ENST00000503116.2_3'UTR|SNCAIP_ENST00000379538.3_Silent_p.P337P|CTC-210G5.1_ENST00000505546.1_RNA|SNCAIP_ENST00000504884.2_3'UTR|SNCAIP_ENST00000414317.2_Silent_p.P305P|SNCAIP_ENST00000542191.1_Silent_p.P261P|SNCAIP_ENST00000261368.8_Silent_p.P703P|SNCAIP_ENST00000379536.2_Silent_p.P643P|CTC-210G5.1_ENST00000510972.1_RNA|CTC-210G5.1_ENST00000509993.1_RNA|SNCAIP_ENST00000379533.2_Silent_p.P750P Q9Y6H5 SNCAP_HUMAN synuclein, alpha interacting protein 703 cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion cytoplasm|neuronal cell body|nucleolus|presynaptic membrane ubiquitin protein ligase binding NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1) 39 all_cancers(142;0.00787)|Prostate(80;0.0327) KIRC - Kidney renal clear cell carcinoma(527;0.206) OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232) GGCCGCAGCCCATTGTAGAAA 0.537000 27 66 0 0 1 0 0 COL11A2 1302 broad.mit.edu 37 6 33133964 33133964 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:33133964C>T ENST00000341947.2 - 61 4639 c.4412G>A c.(4411-4413)gGa>gAa p.G1471E COL11A2_ENST00000361917.1_Missense_Mutation_p.G1364E|COL11A2_ENST00000374714.1_Missense_Mutation_p.G1445E|COL11A2_ENST00000477772.1_Intron|COL11A2_ENST00000374712.1_Missense_Mutation_p.G1390E|COL11A2_ENST00000374713.1_Missense_Mutation_p.G1424E|COL11A2_ENST00000395197.1_Missense_Mutation_p.G1411E|COL11A2_ENST00000357486.1_Missense_Mutation_p.G1450E|COL11A2_ENST00000374708.4_Missense_Mutation_p.G1385E NM_080680.2 NP_542411.2 P13942 COBA2_HUMAN collagen, type XI, alpha 2 1471 Triple-helical region. cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development collagen type XI extracellular matrix structural constituent conferring tensile strength|protein binding, bridging biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6) 68 TCCTTTGGCTCCTTTGGGGCC 0.577000 6 20 0 0 1 0 0 API5 8539 broad.mit.edu 37 11 43345032 43345032 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:43345032C>T ENST00000378852.3 + 6 721 c.596C>T c.(595-597)tCt>tTt p.S199F API5_ENST00000534600.1_Missense_Mutation_p.S199F|API5_ENST00000531273.1_Missense_Mutation_p.S199F|API5_ENST00000534695.1_Intron|API5_ENST00000455725.2_Missense_Mutation_p.S188F|API5_ENST00000420461.2_Missense_Mutation_p.S145F NM_001142930.1|NM_006595.3 NP_001136402.1|NP_006586.1 Q9BZZ5 API5_HUMAN apoptosis inhibitor 5 199 anti-apoptosis|apoptosis cytoplasm|spliceosomal complex fibroblast growth factor binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1) 20 AAGATACTGTCTGGGTTAAAA 0.418000 34 71 0 0 1 0 0 LDHAL6B 92483 broad.mit.edu 37 15 59499214 59499214 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr15:59499214G>A ENST00000307144.4 + 1 173 c.75G>A c.(73-75)ggG>ggA p.G25G MYO1E_ENST00000288235.4_Intron NM_033195.2 NP_149972.1 Q9BYZ2 LDH6B_HUMAN lactate dehydrogenase A-like 6B 25 glycolysis cytoplasm L-lactate dehydrogenase activity|protein binding endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|stomach(1) 10 NADH(DB00157) TATGCCTGGGGATGGCCCTGT 0.592000 14 43 0 0 1 0 0 MLLT4 4301 broad.mit.edu 37 6 168319457 168319457 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:168319457G>A ENST00000366806.2 + 20 2873 c.2731G>A c.(2731-2733)Gat>Aat p.D911N MLLT4_ENST00000344191.4_Missense_Mutation_p.D911N|MLLT4_ENST00000392112.1_Missense_Mutation_p.D895N|MLLT4_ENST00000392108.3_Missense_Mutation_p.D911N|MLLT4_ENST00000351017.4_Missense_Mutation_p.D918N|MLLT4_ENST00000447894.2_Missense_Mutation_p.D911N|MLLT4_ENST00000400822.3_Missense_Mutation_p.D910N P55196 AFAD_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 911 adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction adherens junction|cell-cell junction|cytosol|nucleus protein C-terminus binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 65 Breast(66;1.07e-05)|Ovarian(120;0.024) Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117) AAACACTGCCGATGAGCTGGC 0.463000 T MLL AL 23 53 0 0 1 0 0 GTSE1 51512 broad.mit.edu 37 22 46704244 46704244 + Missense_Mutation SNP G G A rs141526579 TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr22:46704244G>A ENST00000454366.1 + 4 378 c.166G>A c.(166-168)Gga>Aga p.G56R NM_016426.6 NP_057510.4 Q9NYZ3 GTSE1_HUMAN G-2 and S-phase expressed 1 37 DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G2 phase of mitotic cell cycle|microtubule-based process cytoplasmic microtubule NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3) 27 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.00462) AGTCTTCTTCGGACCCTTTGG 0.388000 78 179 0 0 1 0 0 C1orf56 54964 broad.mit.edu 37 1 151020436 151020436 + Nonsense_Mutation SNP T T A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:151020436T>A ENST00000368926.5 + 1 221 c.113T>A c.(112-114)tTa>tAa p.L38* NM_017860.3 NP_060330.2 Q9BUN1 CA056_HUMAN chromosome 1 open reading frame 56 38 extracellular region endometrium(1)|kidney(1)|lung(3)|ovary(1)|prostate(1) 7 Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211) CGGGTCAGTTTACGCTTTGGG 0.657000 28 52 0 0 1 0 0 LILRB5 10990 broad.mit.edu 37 19 54759220 54759220 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:54759220C>T ENST00000450632.1 - 5 931 c.854G>A c.(853-855)aGa>aAa p.R285K LILRB5_ENST00000345866.6_Missense_Mutation_p.R194K|LILRB5_ENST00000316219.5_Missense_Mutation_p.R294K|LILRB5_ENST00000449561.2_Missense_Mutation_p.R294K O75023 LIRB5_HUMAN leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5 294 Ig-like C2-type 3. cell surface receptor linked signaling pathway|defense response integral to membrane transmembrane receptor activity NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 56 all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) ACCGTAGCATCTGTACTGGCC 0.677000 39 67 0 0 1 0 0 OPRD1 4985 broad.mit.edu 37 1 29189304 29189304 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:29189304G>A ENST00000234961.2 + 3 870 c.628G>A c.(628-630)Gac>Aac p.D210N NM_000911.3 NP_000902.3 P41143 OPRD_HUMAN opioid receptor, delta 1 210 immune response|protein import into nucleus, translocation integral to plasma membrane delta-opioid receptor activity|protein binding breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 Colorectal(325;3.46e-05)|Lung NSC(340;0.000947)|all_lung(284;0.00131)|Renal(390;0.00758)|Breast(348;0.00765)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123) Colorectal(126;1.29e-07)|COAD - Colon adenocarcinoma(152;7.51e-06)|STAD - Stomach adenocarcinoma(196;0.00306)|BRCA - Breast invasive adenocarcinoma(304;0.0241)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.147) Butorphanol(DB00611)|Codeine(DB00318)|Fentanyl(DB00813)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Loperamide(DB00836)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pimozide(DB01100)|Propoxyphene(DB00647) CTGGTACTGGGACACGGTGAC 0.627000 29 57 0 0 1 0 0 RYR1 6261 broad.mit.edu 37 19 38959762 38959762 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:38959762G>A ENST00000355481.4 + 26 3669 c.3538G>A c.(3538-3540)Gag>Aag p.E1180K RYR1_ENST00000360985.3_Missense_Mutation_p.E1180K|RYR1_ENST00000359596.3_Missense_Mutation_p.E1180K NM_000540.2|NM_001042723.1 NP_000531.2|NP_001036188.1 P21817 RYR1_HUMAN ryanodine receptor 1 (skeletal) 1180 6 X approximate repeats.|B30.2/SPRY 2. muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7) 285 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) AGCCTTCCGGGAGATTGAGAT 0.542000 24 65 0 0 1 0 0 DPP9 91039 broad.mit.edu 37 19 4683544 4683544 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:4683544G>A ENST00000262960.9 - 19 2553 c.2276C>T c.(2275-2277)tCc>tTc p.S759F AC005594.3_ENST00000381796.1_RNA|DPP9_ENST00000598800.1_Missense_Mutation_p.S730F|DPP9_ENST00000594671.1_Missense_Mutation_p.S730F|DPP9_ENST00000601173.1_5'UTR NM_139159.4 NP_631898.3 Q86TI2 DPP9_HUMAN dipeptidyl-peptidase 9 730 proteolysis cytosol|membrane aminopeptidase activity|serine-type peptidase activity cervix(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00884) GCCCCCGTAGGACCAGCCATG 0.657000 5 87 0 0 1 0 0 HSF5 124535 broad.mit.edu 37 17 56557279 56557279 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:56557279C>T ENST00000323777.3 - 2 1009 c.900G>A c.(898-900)caG>caA p.Q300Q NM_001080439.1 NP_001073908.1 Q4G112 HSF5_HUMAN heat shock transcription factor family member 5 300 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|skin(1) 16 Medulloblastoma(34;0.127)|all_neural(34;0.237) CTTGCGAGTACTGTGCTGAGG 0.398000 20 253 0 0 1 0 0 KIAA1109 84162 broad.mit.edu 37 4 123145749 123145749 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:123145749C>T ENST00000264501.4 + 23 3083 c.2710C>T c.(2710-2712)Cct>Tct p.P904S KIAA1109_ENST00000495260.1_3'UTR|KIAA1109_ENST00000455637.1_Missense_Mutation_p.P904S|KIAA1109_ENST00000388738.3_Missense_Mutation_p.P904S Q2LD37 K1109_HUMAN KIAA1109 904 regulation of cell growth|regulation of epithelial cell differentiation integral to membrane|nucleus breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3) 172 AGAAGGTCTTCCTTTGGGAAG 0.488000 20 45 0 0 1 0 0 DSC3 1825 broad.mit.edu 37 18 28598666 28598666 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr18:28598666G>A ENST00000434452.1 - 8 1197 c.1043C>T c.(1042-1044)tCa>tTa p.S348L DSC3_ENST00000360428.4_Missense_Mutation_p.S348L NM_024423.2 NP_077741.2 Q14574 DSC3_HUMAN desmocollin 3 348 Cadherin 2. homophilic cell adhesion|protein stabilization desmosome|integral to membrane|membrane fraction calcium ion binding|gamma-catenin binding endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 56 OV - Ovarian serous cystadenocarcinoma(10;0.125) ATTATCATTTGAATCTGTTAC 0.318000 30 85 0 0 1 0 0 PNPLA5 150379 broad.mit.edu 37 22 44277448 44277448 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr22:44277448C>T ENST00000216177.4 - 8 1321 c.1189G>A c.(1189-1191)Ggg>Agg p.G397R PNPLA5_ENST00000593866.1_Missense_Mutation_p.G283R|PNPLA5_ENST00000381198.2_Missense_Mutation_p.G283R|PNPLA5_ENST00000597664.1_Missense_Mutation_p.G397R NM_138814.3 NP_620169.1 Q7Z6Z6 PLPL5_HUMAN patatin-like phospholipase domain containing 5 397 lipid catabolic process hydrolase activity endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1) 16 all_neural(38;0.0966)|Ovarian(80;0.105)|Glioma(61;0.222) CTGATGGGCCCAAGGAGCTGG 0.677000 8 15 0 0 1 0 0 IGHV1-18 28468 broad.mit.edu 37 14 106641813 106641813 + RNA SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr14:106641813C>T ENST00000390605.2 - 0 159 CACTGAGGCCCCAGGCTTCTT 0.582000 78 161 0 0 1 0 0 APCS 325 broad.mit.edu 37 1 159558055 159558055 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:159558055G>A ENST00000255040.2 + 2 326 c.229G>A c.(229-231)Gat>Aat p.D77N NM_001639.3 NP_001630.1 P02743 SAMP_HUMAN amyloid P component, serum 77 Pentaxin. acute-phase response|chaperone-mediated protein complex assembly|protein folding extracellular space metal ion binding|sugar binding|unfolded protein binding breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(2) 20 all_hematologic(112;0.0429) CCAAGGCAGGGATAATGAGCT 0.433000 78 93 0 0 1 0 0 CD19 930 broad.mit.edu 37 16 28944656 28944656 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr16:28944656G>A ENST00000538922.1 + 4 723 c.661G>A c.(661-663)Ggg>Agg p.G221R CD19_ENST00000324662.3_Missense_Mutation_p.G221R|CD19_ENST00000567541.1_Missense_Mutation_p.G221R NM_001178098.1|NM_001770.5 NP_001171569.1|NP_001761.3 P15391 CD19_HUMAN CD19 molecule 221 Ig-like C2-type 2. cellular defense response external side of plasma membrane|integral to plasma membrane protein binding|receptor signaling protein activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(4)|urinary_tract(1) 29 GCACCCCAAGGGGCCTAAGTC 0.632000 37 54 0 0 1 0 0 RASGRF1 5923 broad.mit.edu 37 15 79356805 79356805 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr15:79356805C>T ENST00000419573.3 - 2 614 c.340G>A c.(340-342)Gca>Aca p.A114T RASGRF1_ENST00000558480.2_Missense_Mutation_p.A114T|RASGRF1_ENST00000560334.1_5'UTR NM_002891.4 NP_002882.3 Q13972 RGRF1_HUMAN Ras protein-specific guanine nucleotide-releasing factor 1 114 PH 1. activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission cytosol|growth cone|plasma membrane|synaptosome Rho guanyl-nucleotide exchange factor activity p.A114S(1) breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 CAATCTTTTGCGTCCTCTGTC 0.512000 8 219 0 0 1 0 0 RHOXF2 84528 broad.mit.edu 37 X 119293178 119293178 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chrX:119293178G>A ENST00000371388.3 + 2 527 c.337G>A c.(337-339)Gaa>Aaa p.E113K NM_032498.1 NP_115887.1 Q9BQY4 RHXF2_HUMAN Rhox homeobox family, member 2 113 nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(2)|large_intestine(2)|lung(1)|skin(2) 8 GAGCGAGAAGGAACCTGGGCA 0.682000 24 28 0 0 1 0 0 FAM207A 85395 broad.mit.edu 37 21 46363655 46363655 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr21:46363655C>T ENST00000291634.6 + 2 234 c.186C>T c.(184-186)gcC>gcT p.A62A FAM207A_ENST00000397826.3_Silent_p.A62A NM_058190.2 NP_478070.1 Q9NSI2 CU070_HUMAN family with sequence similarity 207, member A 62 ACCCCAGCGCCTTGGTGCAGA 0.562000 37 63 0 0 1 0 0 OR2G6 391211 broad.mit.edu 37 1 248685172 248685172 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:248685172C>T ENST00000343414.4 + 1 257 c.225C>T c.(223-225)acC>acT p.T75T NM_001013355.1 NP_001013373.1 Q5TZ20 OR2G6_HUMAN olfactory receptor, family 2, subfamily G, member 6 75 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 61 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) all_cancers(173;0.0156) OV - Ovarian serous cystadenocarcinoma(106;0.0265) GCTTTACCACCAGTGTTGCCC 0.512000 5 128 0 0 1 0 0 DNAH17 8632 broad.mit.edu 37 17 76462738 76462738 + Splice_Site SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:76462738G>A ENST00000389840.5 - 56 9021 c.8898_splice c.e56+1 p.P2966_splice DNAH17_ENST00000585328.1_Splice_Site_p.P2975_splice|DNAH17_ENST00000586052.1_5'UTR dynein, axonemal, heavy chain 17 NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 116 BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656) GTGACTCACCGGAATCCCCTC 0.637000 20 56 0 0 1 0 0 PKP4 8502 broad.mit.edu 37 2 159481480 159481480 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:159481480C>T ENST00000389757.3 + 7 819 c.694C>T c.(694-696)Cct>Tct p.P232S PKP4_ENST00000389759.3_Missense_Mutation_p.P232S NM_001005476.1 NP_001005476.1 Q99569 PKP4_HUMAN plakophilin 4 232 cell adhesion desmosome protein binding breast(2)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(21)|ovary(6)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1) 61 AGGCGTGTCTCCTTCAAGGGG 0.522000 HNSCC(62;0.18) 50 115 0 0 1 0 0 FSHB 2488 broad.mit.edu 37 11 30255152 30255152 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:30255152C>T ENST00000417547.1 + 3 234 c.195C>T c.(193-195)atC>atT p.I65I FSHB_ENST00000533718.1_Silent_p.I65I|FSHB_ENST00000254122.3_Silent_p.I65I NM_001018080.1 NP_001018090.1 P01225 FSHB_HUMAN follicle stimulating hormone, beta polypeptide 65 cellular nitrogen compound metabolic process|female gamete generation|female pregnancy|ovarian follicle development|peptide hormone processing|progesterone biosynthetic process|spermatogenesis|transforming growth factor beta receptor signaling pathway cytoplasm|extracellular region|soluble fraction follicle-stimulating hormone activity|protein heterodimerization activity haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(3)|skin(1) 12 Follitropin beta(DB00066)|Thyrotropin Alfa(DB00024)|Urofollitropin(DB00094) GGCCCAAAATCCAGAAAACAT 0.458000 21 73 0 0 1 0 0 PCDH17 27253 broad.mit.edu 37 13 58299400 58299400 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr13:58299400G>A ENST00000377918.3 + 4 3478 c.3452G>A c.(3451-3453)gGa>gAa p.G1151E NM_001040429.2 NP_001035519.1 O14917 PCD17_HUMAN protocadherin 17 1151 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding|protein binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 120 Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132) GBM - Glioblastoma multiforme(99;1.06e-05) GACTGCCGGGGAAACGACCCT 0.448000 88 167 0 0 1 0 0 FBXW11 23291 broad.mit.edu 37 5 171295671 171295671 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:171295671G>A ENST00000296933.6 - 12 1928 c.1558C>T c.(1558-1560)Ccc>Tcc p.P520S FBXW11_ENST00000393802.2_Missense_Mutation_p.P499S|FBXW11_ENST00000265094.5_Missense_Mutation_p.P533S|FBXW11_ENST00000425623.2_Missense_Mutation_p.P501S NM_033644.2|NM_033645.2 NP_387448.2|NP_387449.2 Q9UKB1 FBW1B_HUMAN F-box and WD repeat domain containing 11 533 cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of circadian rhythm|positive regulation of proteolysis|positive regulation of transcription, DNA-dependent|protein dephosphorylation|protein destabilization|protein polyubiquitination|rhythmic process|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway centrosome|cytosol|nucleus|SCF ubiquitin ligase complex protein binding|ubiquitin-protein ligase activity breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(2)|urinary_tract(2) 21 Renal(175;0.000159)|Lung NSC(126;0.00384)|all_lung(126;0.00659) Medulloblastoma(196;0.00853)|all_neural(177;0.026) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) GTTCTGGAGGGAGAACGGGTC 0.438000 41 91 0 0 1 0 0 CLCN1 1180 broad.mit.edu 37 7 143048896 143048896 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:143048896C>T ENST00000343257.2 + 23 2892 c.2805C>T c.(2803-2805)tcC>tcT p.S935S NM_000083.2 NP_000074.2 P35523 CLCN1_HUMAN chloride channel, voltage-sensitive 1 935 muscle contraction chloride channel complex|integral to plasma membrane voltage-gated chloride channel activity breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2) 58 Melanoma(164;0.205) CATCTCCTTCCCCAGAGCCCC 0.642000 33 91 0 0 1 0 0 PRKDC 5591 broad.mit.edu 37 8 48746878 48746878 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:48746878G>A ENST00000314191.2 - 60 8084 c.8028C>T c.(8026-8028)tcC>tcT p.S2676S PRKDC_ENST00000338368.3_Silent_p.S2676S|PRKDC_ENST00000523565.1_5'UTR NM_006904.6 NP_008835.5 P78527 PRKDC_HUMAN protein kinase, DNA-activated, catalytic polypeptide 2677 KIP-binding. cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7) 147 all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391) CAAACAGCAAGGAGTCAGATG 0.542000 Non-homologous end-joining 110 173 0 0 1 0 0 OR2M4 26245 broad.mit.edu 37 1 248402361 248402361 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:248402361C>T ENST00000306687.1 + 1 131 c.131C>T c.(130-132)tCc>tTc p.S44F NM_017504.1 NP_059974.1 Q96R27 OR2M4_HUMAN olfactory receptor, family 2, subfamily M, member 4 44 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(27)|skin(3)|upper_aerodigestive_tract(2) 50 all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0245) GAAAATATTTCCATGGTTCTC 0.478000 72 187 0 0 1 0 0 M1AP 130951 broad.mit.edu 37 2 74803713 74803713 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:74803713G>A ENST00000290536.5 - 6 918 c.802C>T c.(802-804)Ctc>Ttc p.L268F M1AP_ENST00000464686.1_5'UTR|M1AP_ENST00000358434.2_5'UTR|M1AP_ENST00000536235.1_Missense_Mutation_p.L268F|M1AP_ENST00000409585.1_Missense_Mutation_p.L268F NM_138804.3 NP_620159.2 meiosis 1 associated protein GATGGGCAGAGCAGTCGCTCT 0.468000 18 39 0 0 1 0 0 CCDC67 159989 broad.mit.edu 37 11 93148266 93148266 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:93148266G>A ENST00000298050.3 + 13 1724 c.1624G>A c.(1624-1626)Gat>Aat p.D542N CCDC67_ENST00000525646.1_Missense_Mutation_p.D284N NM_181645.3 NP_857596.2 Q05D60 CCD67_HUMAN coiled-coil domain containing 67 542 endometrium(3)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 Acute lymphoblastic leukemia(157;2.35e-05)|all_hematologic(158;0.00824) TAGTGATGATGATGTATTCCC 0.403000 37 32 0 0 1 0 0 GLS2 27165 broad.mit.edu 37 12 56872844 56872844 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:56872844C>T ENST00000311966.4 - 4 804 c.526G>A c.(526-528)Gga>Aga p.G176R GLS2_ENST00000539272.1_Intron NM_013267.2 NP_037399.2 Q9UI32 GLSL_HUMAN glutaminase 2 (liver, mitochondrial) 176 cellular amino acid biosynthetic process|glutamate secretion|glutamine metabolic process|neurotransmitter secretion mitochondrial matrix glutaminase activity|protein binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1) 13 L-Glutamic Acid(DB00142)|L-Glutamine(DB00130) ACTTTGCCTCCAGTGAGCTCT 0.483000 6 206 0 0 1 0 0 RGPD2 729857 broad.mit.edu 37 2 88082524 88082524 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:88082524G>A ENST00000398146.3 - 20 4241 c.4019C>T c.(4018-4020)tCc>tTc p.S1340F RGPD2_ENST00000420840.2_Missense_Mutation_p.S1332F|RGPD2_ENST00000327544.6_Missense_Mutation_p.S597F Q68DN6 RGPD1_HUMAN RANBP2-like and GRIP domain containing 2 1332 RanBD1 2. intracellular transport binding breast(1)|pancreas(1) 2 CTCACCACTGGATACTTCAAC 0.393000 107 192 0 0 1 0 0 GPR55 9290 broad.mit.edu 37 2 231774727 231774727 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:231774727G>A ENST00000392040.1 - 2 1143 c.951C>T c.(949-951)tcC>tcT p.S317S AC012507.4_ENST00000454890.1_RNA|GPR55_ENST00000392039.2_Silent_p.S317S NM_005683.3 NP_005674.2 Q9Y2T6 GPR55_HUMAN G protein-coupled receptor 55 317 activation of phospholipase C activity|bone resorption|negative regulation of osteoclast differentiation|positive regulation of ERK1 and ERK2 cascade|positive regulation of Rho protein signal transduction integral to plasma membrane cannabinoid receptor activity endometrium(1)|large_intestine(1)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 Renal(207;0.0112)|all_lung(227;0.0741)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)|Lung NSC(271;0.204) Epithelial(121;1.04e-11)|all cancers(144;4.22e-09)|LUSC - Lung squamous cell carcinoma(224;0.0119)|Lung(119;0.0145) GTTAGCCCCGGGAGATCGTGG 0.537000 47 90 0 0 1 0 0 NLRC5 84166 broad.mit.edu 37 16 57111225 57111225 + Missense_Mutation SNP T T A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr16:57111225T>A ENST00000262510.6 + 41 5078 c.4853T>A c.(4852-4854)aTt>aAt p.I1618N NLRC5_ENST00000539144.1_Missense_Mutation_p.I1589N|NLRC5_ENST00000436936.1_3'UTR|NLRC5_ENST00000308149.7_Missense_Mutation_p.I1589N NM_032206.4 NP_115582.4 Q86WI3 NLRC5_HUMAN NLR family, CARD domain containing 5 1618 defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity cytosol|nucleus ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 75 all_neural(199;0.225) CACAACCAGATTGGAGACGCT 0.567000 31 19 0 0 1 0 0 OR52A5 390054 broad.mit.edu 37 11 5153419 5153419 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:5153419G>A ENST00000307388.1 - 1 453 c.454C>T c.(454-456)Ctc>Ttc p.L152F NM_001005160.2 NP_001005160.1 Q9H2C5 O52A5_HUMAN olfactory receptor, family 52, subfamily A, member 5 152 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(18)|skin(3) 35 Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675) Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2) GCAGCCCTGAGTGTCACCCCA 0.473000 8 45 0 0 1 0 0 HTR1B 3351 broad.mit.edu 37 6 78172223 78172223 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:78172223C>T ENST00000369947.2 - 1 1267 c.898G>A c.(898-900)Gaa>Aaa p.E300K NM_000863.1 NP_000854.1 P28222 5HT1B_HUMAN 5-hydroxytryptamine (serotonin) receptor 1B, G protein-coupled 300 G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cAMP biosynthetic process|synaptic transmission integral to plasma membrane protein binding|serotonin receptor activity NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|prostate(2)|upper_aerodigestive_tract(2) 25 all_cancers(76;0.0867)|Acute lymphoblastic leukemia(125;0.00119)|all_hematologic(105;0.0332) BRCA - Breast invasive adenocarcinoma(397;0.205) Almotriptan(DB00918)|Dexfenfluramine(DB01191)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Naratriptan(DB00952)|Pindolol(DB00960)|Propranolol(DB00571)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Venlafaxine(DB00285)|Zolmitriptan(DB00315) TTCTTCTTTTCCAGCAGGGCG 0.532000 16 315 0 0 1 0 0 TRRAP 8295 broad.mit.edu 37 7 98563452 98563452 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:98563452C>T ENST00000359863.4 + 48 7298 c.7089C>T c.(7087-7089)atC>atT p.I2363I TRRAP_ENST00000355540.3_Silent_p.I2345I|TRRAP_ENST00000446306.3_Silent_p.I2345I NM_001244580.1 NP_001231509.1 Q9Y4A5 TRRAP_HUMAN transformation/transcription domain-associated protein 2363 Interaction with TP53. histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2) 176 all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274) STAD - Stomach adenocarcinoma(171;0.215) ATGCCAAAATCCTCCGGGCTG 0.527000 23 100 0 0 1 0 0 ENPEP 2028 broad.mit.edu 37 4 111397739 111397739 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:111397739C>T ENST00000265162.5 + 1 511 c.169C>T c.(169-171)Cct>Tct p.P57S NM_001977.3 NP_001968.3 Q07075 AMPE_HUMAN glutamyl aminopeptidase (aminopeptidase A) 57 cell migration|cell proliferation|cell-cell signaling|proteolysis integral to plasma membrane aminopeptidase activity|metalloexopeptidase activity|zinc ion binding breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1) 54 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.0031) L-Glutamic Acid(DB00142) TGCGCCAGCTCCTTCCCACCT 0.642000 53 120 0 0 1 0 0 BACH1 571 broad.mit.edu 37 21 30699099 30699099 + Missense_Mutation SNP T T G TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr21:30699099T>G ENST00000399921.1 + 3 1197 c.954T>G c.(952-954)caT>caG p.H318Q BACH1_ENST00000286800.3_Missense_Mutation_p.H318Q NM_206866.1 NP_996749.1 O14867 BACH1_HUMAN BTB and CNC homology 1, basic leucine zipper transcription factor 1 318 nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|urinary_tract(2) 27 TAGACCCTCATGGACTTTATT 0.398000 7 261 0 0 1 0 0 KMT2D 8085 broad.mit.edu 37 12 49420608 49420608 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:49420608G>A ENST00000301067.7 - 48 15140 c.15141C>T c.(15139-15141)gcC>gcT p.A5047A NM_003482.3 NP_003473.3 lysine (K)-specific methyltransferase 2D TCAGCAGACGGGCAGGCCCAT 0.617000 40 92 0 0 1 0 0 FKBP10 60681 broad.mit.edu 37 17 39974453 39974453 + Silent SNP C C T rs113640022 byFrequency TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:39974453C>T ENST00000321562.4 + 3 608 c.504C>T c.(502-504)ccC>ccT p.P168P NM_021939.3 NP_068758.3 Q96AY3 FKB10_HUMAN FK506 binding protein 10, 65 kDa 168 protein folding endoplasmic reticulum lumen|membrane calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity cervix(1)|endometrium(3)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 14 Breast(137;0.00122) BRCA - Breast invasive adenocarcinoma(366;0.148) CCCACTGCCCCCGCATGGTCC 0.632000 41 85 0 0 1 0 0 TNN 63923 broad.mit.edu 37 1 175049313 175049313 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:175049313G>A ENST00000239462.4 + 4 912 c.799G>A c.(799-801)Ggc>Agc p.G267S NM_022093.1 NP_071376.1 Q9UQP3 TENN_HUMAN tenascin N 267 Fibronectin type-III 1. cell growth|cell migration|signal transduction extracellular space|proteinaceous extracellular matrix NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 156 Breast(1374;0.000962) KIRC - Kidney renal clear cell carcinoma(1967;0.00198) CACCCCACAGGGCCTGCAGCT 0.597000 40 98 0 0 1 0 0 SLIT2 9353 broad.mit.edu 37 4 20618763 20618763 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:20618763G>A ENST00000504154.1 + 35 4330 c.4078G>A c.(4078-4080)Gaa>Aaa p.E1360K SLIT2_ENST00000273739.5_Missense_Mutation_p.E1373K|SLIT2_ENST00000503823.1_Missense_Mutation_p.E1352K|SLIT2_ENST00000503837.1_Missense_Mutation_p.E1356K NM_004787.1 NP_004778.1 O94813 SLIT2_HUMAN slit homolog 2 (Drosophila) 1360 EGF-like 7. apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development cell surface|cytoplasm|extracellular space|plasma membrane calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1) 116 CGAGTGCCAGGAAGGATGGAT 0.572000 32 49 0 0 1 0 0 SIGLEC6 946 broad.mit.edu 37 19 52032988 52032988 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:52032988G>A ENST00000346477.3 - 4 1022 c.954C>T c.(952-954)ctC>ctT p.L318L SIGLEC6_ENST00000425629.3_Silent_p.L334L|SIGLEC6_ENST00000391797.3_Silent_p.L323L|SIGLEC6_ENST00000359982.4_Silent_p.L345L|SIGLEC6_ENST00000343300.4_Silent_p.L334L|SIGLEC6_ENST00000436458.1_Silent_p.L282L NM_198845.4 NP_942142.3 O43699 SIGL6_HUMAN sialic acid binding Ig-like lectin 6 334 Ig-like C2-type 2. cell adhesion|cell-cell signaling cytoplasm|extracellular region|integral to plasma membrane|membrane fraction|nucleus endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(15)|ovary(1)|stomach(1) 28 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165) AATGCACAAAGAGACTCAGAG 0.582000 12 44 0 0 1 0 0 VPS13D 55187 broad.mit.edu 37 1 12336207 12336207 + Silent SNP T T C TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:12336207T>C ENST00000358136.3 + 19 2692 c.2562T>C c.(2560-2562)gtT>gtC p.V854V VPS13D_ENST00000356315.4_Silent_p.V854V NM_015378.2 NP_056193.2 Q5THJ4 VP13D_HUMAN vacuolar protein sorting 13 homolog D (S. cerevisiae) 854 protein localization NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4) 130 Ovarian(185;0.249) Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209) AGTTCAACGTTCACCTACAGT 0.438000 OREG0013110 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 11 53 0 0 1 0 0 PIK3R6 146850 broad.mit.edu 37 17 8726805 8726805 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:8726805G>A ENST00000311434.9 - 14 1764 c.1525C>T c.(1525-1527)Ctg>Ttg p.L509L PIK3R6_ENST00000434064.2_5'UTR NM_001010855.2 NP_001010855.1 Q5UE93 PI3R6_HUMAN phosphoinositide-3-kinase, regulatory subunit 6 509 platelet activation cytosol GATGTGTCCAGGGAAGGAGGC 0.527000 13 20 0 0 1 0 0 ANO2 57101 broad.mit.edu 37 12 5860123 5860123 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:5860123C>T ENST00000327087.8 - 11 1128 c.1057G>A c.(1057-1059)Gaa>Aaa p.E353K ANO2_ENST00000546188.1_Missense_Mutation_p.E354K|ANO2_ENST00000356134.5_Missense_Mutation_p.E354K Q9NQ90 ANO2_HUMAN anoctamin 2 358 chloride channel complex|plasma membrane intracellular calcium activated chloride channel activity central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1) 58 CCAATTTTTTCTCCAAAATAC 0.343000 7 14 0 0 1 0 0 AGO1 26523 broad.mit.edu 37 1 36379500 36379500 + Missense_Mutation SNP T T G TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:36379500T>G ENST00000373204.4 + 13 1853 c.1640T>G c.(1639-1641)gTg>gGg p.V547G AGO1_ENST00000373206.1_Missense_Mutation_p.V472G NM_012199.2 NP_036331.1 argonaute RISC catalytic component 1 TGTGTGCAGGTGAAGAACGTG 0.478000 16 125 0 0 1 0 0 KRT31 3881 broad.mit.edu 37 17 39551510 39551510 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:39551510G>A ENST00000251645.2 - 5 915 c.863C>T c.(862-864)gCc>gTc p.A288V NM_002277.2 NP_002268.2 Q15323 K1H1_HUMAN keratin 31 288 Coil 2.|Rod. epidermis development intermediate filament protein binding|structural constituent of cytoskeleton breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1) 31 Breast(137;0.000496) GTTGTGCTGGGCCTGCAGCTC 0.592000 49 136 0 0 1 0 0 WNK4 65266 broad.mit.edu 37 17 40936446 40936446 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:40936446C>T ENST00000246914.5 + 4 1040 c.1019C>T c.(1018-1020)cCg>cTg p.P340L NM_032387.4 NP_115763.2 Q96J92 WNK4_HUMAN WNK lysine deficient protein kinase 4 340 Protein kinase. intracellular protein kinase cascade tight junction ATP binding|protein serine/threonine kinase activity NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1) 35 Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.0749) ACAGGGACCCCGGAATTCATG 0.612000 16 25 0 0 1 0 0 EYA2 2139 broad.mit.edu 37 20 45644851 45644851 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr20:45644851C>T ENST00000327619.5 + 5 704 c.330C>T c.(328-330)tcC>tcT p.S110S EYA2_ENST00000357410.3_Silent_p.S110S|EYA2_ENST00000317304.6_Silent_p.S110S NM_005244.4 NP_005235.3 O00167 EYA2_HUMAN eyes absent homolog 2 (Drosophila) 110 DNA repair|histone dephosphorylation|mesodermal cell fate specification|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus magnesium ion binding|protein binding|protein tyrosine phosphatase activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 32 Myeloproliferative disorder(115;0.0241) TGAACCATTCCCCTGGCCAGA 0.532000 43 121 0 0 1 0 0 TDRD9 122402 broad.mit.edu 37 14 104515970 104515970 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr14:104515970G>A ENST00000409874.4 + 35 4048 c.4000G>A c.(4000-4002)Gag>Aag p.E1334K TDRD9_ENST00000339063.5_Missense_Mutation_p.E1143K NM_153046.2 NP_694591.2 Q8NDG6 TDRD9_HUMAN tudor domain containing 9 1334 cell differentiation|DNA methylation involved in gamete generation|fertilization|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis nucleus|piP-body ATP binding|ATP-dependent helicase activity|nucleic acid binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1) 33 all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0768) AAAACCAAGGGAGAAGATTGT 0.398000 6 14 0 0 1 0 0 CTSE 1510 broad.mit.edu 37 1 206331034 206331034 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:206331034G>A ENST00000361052.3 + 9 1173 c.1055G>A c.(1054-1056)gGa>gAa p.G352E CTSE_ENST00000432969.2_Missense_Mutation_p.E225K|CTSE_ENST00000358184.2_Missense_Mutation_p.G347E|CTSE_ENST00000360218.2_Missense_Mutation_p.E300K P14091 CATE_HUMAN cathepsin E 352 antigen processing and presentation of exogenous peptide antigen via MHC class II|digestion|proteolysis endosome aspartic-type endopeptidase activity endometrium(2)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|skin(3) 16 BRCA - Breast invasive adenocarcinoma(75;0.0754) TTCGTGGATGGAATGCAGTTC 0.542000 102 311 0 0 1 0 0 SYT15 83849 broad.mit.edu 37 10 46967720 46967720 + Splice_Site SNP T T C TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:46967720T>C ENST00000374323.3 - 3 1103 c.514_splice c.e3-1 p.G172_splice SYT15_ENST00000374325.3_Splice_Site_p.G119_splice|SYT15_ENST00000374321.4_Splice_Site_p.G119_splice|SYT15_ENST00000503753.1_Splice_Site_p.G119_splice Q9BQS2 SYT15_HUMAN synaptotagmin XV 119 C2 1. integral to membrane|plasma membrane cervix(1)|endometrium(5)|kidney(2)|lung(5) 13 TACATGCATCTCCTATGACAG 0.632000 45 312 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9088196 9088196 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:9088196G>A ENST00000397910.4 - 1 3822 c.3619C>T c.(3619-3621)Cca>Tca p.P1207S NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 1207 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 CCACTTGTTGGAATATTACTT 0.493000 12 237 0 0 1 0 0 KRT1 3848 broad.mit.edu 37 12 53072532 53072532 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:53072532G>A ENST00000252244.3 - 2 658 c.600C>T c.(598-600)ttC>ttT p.F200F NM_006121.3 NP_006112.3 P04264 K2C1_HUMAN keratin 1 200 Coil 1A.|Rod. complement activation, lectin pathway|epidermis development|fibrinolysis|regulation of angiogenesis|response to oxidative stress plasma membrane protein binding|receptor activity|structural constituent of cytoskeleton|sugar binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(7)|skin(3) 39 GCTGCTCCAGGAACCTCACCT 0.458000 21 41 0 0 1 0 0 CEP112 201134 broad.mit.edu 37 17 63822378 63822378 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:63822378C>T ENST00000317442.8 - 1 283 c.40G>A c.(40-42)Gaa>Aaa p.E14K CEP112_ENST00000580482.1_Intron|CEP112_ENST00000535342.2_Intron|CEP112_ENST00000537949.1_Intron|CEP112_ENST00000392769.2_Intron|CEP112_ENST00000541355.1_Intron NM_001037325.2 NP_001032402.1 Q8N8E3 CE112_HUMAN centrosomal protein 112kDa 745 centrosome NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(8)|lung(11)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1) 28 GCTTGGTTTTCCTTGGCAGAT 0.493000 118 323 0 0 1 0 0 VWF 7450 broad.mit.edu 37 12 6059003 6059003 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:6059003G>A ENST00000261405.5 - 51 8456 c.8202C>T c.(8200-8202)gtC>gtT p.V2734V NM_000552.3 NP_000543.2 P04275 VWF_HUMAN von Willebrand factor 2734 CTCK. blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5) 129 Antihemophilic Factor(DB00025) TTCCCACCTTGACATACTGCA 0.542000 13 121 0 0 1 0 0 COL11A1 1301 broad.mit.edu 37 1 103400113 103400113 + Splice_Site SNP C C G TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:103400113C>G ENST00000358392.2 - 46 3846 c.e46-1 COL11A1_ENST00000353414.4_Splice_Site|COL11A1_ENST00000512756.1_Splice_Site|COL11A1_ENST00000370096.3_Splice_Site NM_080629.2 NP_542196.2 P12107 COBA1_HUMAN collagen, type XI, alpha 1 collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception collagen type XI extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1) 258 all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181) Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248) CATCACCTCCCTAGAGAAGAG 0.428000 30 58 0 0 1 0 0 COL4A3 1285 broad.mit.edu 37 2 228141158 228141158 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:228141158G>A ENST00000396578.3 + 27 2147 c.1985G>A c.(1984-1986)gGg>gAg p.G662E AC097662.2_ENST00000439598.2_RNA|AC097662.2_ENST00000433324.1_RNA|AC097662.2_ENST00000396588.2_RNA NM_000091.4 NP_000082.2 Q01955 CO4A3_HUMAN collagen, type IV, alpha 3 (Goodpasture antigen) 662 Triple-helical region. activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound collagen type IV extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 55 all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247) Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187) GGACCTCCAGGGCCCCCTGGC 0.532000 22 47 0 0 1 0 0 VSTM1 284415 broad.mit.edu 37 19 54554671 54554671 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:54554671C>T ENST00000338372.2 - 4 562 c.387G>A c.(385-387)atG>atA p.M129I VSTM1_ENST00000425006.2_Missense_Mutation_p.M129I|VSTM1_ENST00000376626.1_Missense_Mutation_p.M129I|VSTM1_ENST00000366170.2_Missense_Mutation_p.M41I NM_198481.3 NP_940883.2 Q6UX27 VSTM1_HUMAN V-set and transmembrane domain containing 1 129 integral to membrane breast(1)|large_intestine(3)|lung(11)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19) GBM - Glioblastoma multiforme(134;0.165) TACCTGTTTTCATTGAGGGAG 0.378000 14 31 0 0 1 0 0 MIOX 55586 broad.mit.edu 37 22 50926447 50926447 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr22:50926447G>A ENST00000395732.3 + 4 332 c.310G>A c.(310-312)Gag>Aag p.E104K MIOX_ENST00000216075.6_Missense_Mutation_p.E104K|MIOX_ENST00000395733.3_Missense_Mutation_p.E104K Q9UGB7 MIOX_HUMAN myo-inositol oxygenase 104 inositol catabolic process cytoplasm|inclusion body aldo-keto reductase (NADP) activity|ferric iron binding|inositol oxygenase activity endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 13 all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247) CCAGACAGCGGAGGGCATCCG 0.632000 10 98 0 0 1 0 0 SMPD3 55512 broad.mit.edu 37 16 68398711 68398711 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr16:68398711C>T ENST00000219334.5 - 5 2101 c.1498G>A c.(1498-1500)Gag>Aag p.E500K SMPD3_ENST00000568373.1_Missense_Mutation_p.E500K|SMPD3_ENST00000566009.1_5'UTR|SMPD3_ENST00000563226.1_Missense_Mutation_p.E500K NM_018667.3 NP_061137.1 Q9NY59 NSMA2_HUMAN sphingomyelin phosphodiesterase 3, neutral membrane (neutral sphingomyelinase II) 500 cell cycle|multicellular organismal development|sphingomyelin catabolic process Golgi membrane|integral to membrane|plasma membrane metal ion binding|sphingomyelin phosphodiesterase activity breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 21 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0184)|Epithelial(162;0.0785) Phosphatidylserine(DB00144) GCCACCAGCTCCTCGGGGTTG 0.597000 41 19 0 0 1 0 0 GRIN2B 2904 broad.mit.edu 37 12 13717167 13717167 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:13717167C>T ENST00000279593.3 - 13 3214 c.3005G>A c.(3004-3006)gGg>gAg p.G1002E NM_000834.3 NP_000825.2 Q13224 NMDE2_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2B 1002 response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1) 143 Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) GTCGTAGAGCCCATCGATGGA 0.592000 20 75 0 0 1 0 0 ZNF688 146542 broad.mit.edu 37 16 30581483 30581483 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr16:30581483G>A ENST00000223459.6 - 3 1689 c.585C>T c.(583-585)ccC>ccT p.P195P ZNF688_ENST00000395219.1_Silent_p.P181P NM_145271.3 NP_660314.1 P0C7X2 ZN688_HUMAN zinc finger protein 688 195 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|large_intestine(2)|lung(2)|ovary(1) 8 CCAGCAGTGAGGGGTAGGTGA 0.687000 20 43 0 0 1 0 0 KIF21B 23046 broad.mit.edu 37 1 200960207 200960207 + Missense_Mutation SNP G G A rs138915096 byFrequency TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:200960207G>A ENST00000332129.2 - 18 2841 c.2525C>T c.(2524-2526)cCc>cTc p.P842L KIF21B_ENST00000461742.2_Missense_Mutation_p.P842L|KIF21B_ENST00000360529.5_Missense_Mutation_p.P842L|KIF21B_ENST00000422435.2_Missense_Mutation_p.P842L NM_001252102.1|NM_001252103.1|NM_017596.3 NP_001239031.1|NP_001239032.1|NP_060066.2 O75037 KI21B_HUMAN kinesin family member 21B 842 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2) 83 GTCCAGCATGGGTGGCTTTAG 0.647000 49 143 0 0 1 0 0 DCC 1630 broad.mit.edu 37 18 51025778 51025778 + Nonsense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr18:51025778C>T ENST00000442544.2 + 27 4625 c.4009C>T c.(4009-4011)Cga>Tga p.R1337* DCC_ENST00000581580.1_Nonsense_Mutation_p.R970*|RP11-671P2.1_ENST00000582064.1_RNA NM_005215.3 NP_005206.2 P43146 DCC_HUMAN deleted in colorectal carcinoma 1337 apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development cytosol|integral to membrane NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6) 148 all_cancers(7;0.11)|all_epithelial(6;0.00126) Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942) AGCTTGTGTTCGACCAACTCA 0.532000 63 110 0 0 1 0 0 NME1 4830 broad.mit.edu 37 17 49237341 49237341 + Splice_Site SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:49237341G>A ENST00000511355.1 + 3 213 c.126_splice c.e3-1 p.A43_splice NME1_ENST00000336097.3_Splice_Site_p.A68_splice|NME1_ENST00000013034.3_Splice_Site_p.A68_splice|NME2_ENST00000555572.1_Splice_Site_p.A68_splice|NME1_ENST00000480143.1_Splice_Site_p.A68_splice|NME2_ENST00000393193.2_Splice_Site_p.A43_splice|NME1_ENST00000393196.3_Splice_Site_p.A43_splice|NME2_ENST00000376392.6_Splice_Site_p.A43_splice NME/NM23 nucleoside diphosphate kinase 1 endometrium(1)|large_intestine(1)|lung(1) 3 BRCA - Breast invasive adenocarcinoma(22;1.54e-08) TGTTGAATAGGCTTCCGAAGA 0.463000 8 159 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179634635 179634635 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:179634635G>A ENST00000589042.1 - 37 8897 c.8673C>T c.(8671-8673)atC>atT p.I2891I TTN_ENST00000359218.5_Silent_p.I2845I|TTN_ENST00000591111.1_Silent_p.I2891I|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Silent_p.I2891I|TTN_ENST00000460472.2_Silent_p.I2845I|TTN_ENST00000342175.6_Silent_p.I2845I|TTN_ENST00000360870.5_Silent_p.I2891I NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 2629 Ig-like 16. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) CAGGCACCTCGATATTTTTCA 0.373000 48 102 0 0 1 0 0 TMEM209 84928 broad.mit.edu 37 7 129841753 129841753 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:129841753G>A ENST00000397622.2 - 5 632 c.510C>T c.(508-510)tcC>tcT p.S170S TMEM209_ENST00000336804.8_Silent_p.S169S|RP11-775D22.3_ENST00000483283.1_RNA|TMEM209_ENST00000473456.1_Silent_p.S170S|TMEM209_ENST00000462753.1_Silent_p.S169S NM_032842.3 NP_116231.2 Q96SK2 TM209_HUMAN transmembrane protein 209 170 Ser-rich. integral to membrane NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(2)|skin(1) 12 Melanoma(18;0.0435) TGCCACCTGAGGACAGACCTT 0.488000 24 46 0 0 1 0 0 TAC1 6863 broad.mit.edu 37 7 97362044 97362044 + Silent SNP C C A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:97362044C>A ENST00000319273.5 + 2 417 c.120C>A c.(118-120)atC>atA p.I40I TAC1_ENST00000350485.4_Silent_p.I40I|TAC1_ENST00000346867.4_Silent_p.I40I NM_003182.2 NP_003173.1 P20366 TKN1_HUMAN tachykinin, precursor 1 40 detection of abiotic stimulus|elevation of cytosolic calcium ion concentration|insemination|neuropeptide signaling pathway|synaptic transmission|tachykinin receptor signaling pathway extracellular space large_intestine(4)|lung(6)|urinary_tract(1) 11 all_cancers(62;3.95e-09)|all_epithelial(64;1.1e-09)|Esophageal squamous(72;0.00448)|Lung NSC(181;0.0358)|all_lung(186;0.0384) Bacitracin(DB00626) GCGACCAGATCAAGGTGAGGC 0.557000 37 136 3.78316e-11 3.80773e-11 1 1 0 ANKRD1 27063 broad.mit.edu 37 10 92677503 92677503 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:92677503C>T ENST00000371697.3 - 5 786 c.538G>A c.(538-540)Gaa>Aaa p.E180K NM_014391.2 NP_055206.2 Q15327 ANKR1_HUMAN ankyrin repeat domain 1 (cardiac muscle) 180 cellular lipid metabolic process|defense response|signal transduction DNA binding p.E180K(1) autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|prostate(3)|skin(1) 27 Colorectal(252;0.0475) TCACGGAATTCGATCTGGGCT 0.418000 24 62 0 0 1 0 0 C1orf50 79078 broad.mit.edu 37 1 43241027 43241027 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:43241027C>T ENST00000372525.5 + 5 605 c.562C>T c.(562-564)Ccg>Tcg p.P188S C1orf50_ENST00000536543.1_5'UTR|C1orf50_ENST00000468913.2_3'UTR NM_024097.3 NP_077002.2 Q9BV19 CA050_HUMAN chromosome 1 open reading frame 50 188 large_intestine(2)|ovary(1)|pancreas(1) 4 Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) GGCCCTGCCTCCGTGCACTGA 0.532000 20 36 0 0 1 0 0 UGT2B10 7365 broad.mit.edu 37 4 69696361 69696361 + Nonsense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:69696361C>T ENST00000265403.7 + 6 1378 c.1351C>T c.(1351-1353)Caa>Taa p.Q451* UGT2B10_ENST00000458688.2_Nonsense_Mutation_p.Q367* NM_001075.4 NP_001066.1 P36537 UDB10_HUMAN UDP glucuronosyltransferase 2 family, polypeptide B10 451 lipid metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1) 29 TCAACATGATCAACCAGTGAA 0.393000 59 140 0 0 1 0 0 USH2A 7399 broad.mit.edu 37 1 216496976 216496976 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:216496976G>A ENST00000366943.2 - 8 1776 c.1390C>T c.(1390-1392)Cgt>Tgt p.R464C USH2A_ENST00000307340.3_Missense_Mutation_p.R464C|USH2A_ENST00000366942.3_Missense_Mutation_p.R464C O75445 USH2A_HUMAN Usher syndrome 2A (autosomal recessive, mild) 464 Laminin N-terminal. R -> C (in USH2A; uncertain pathogenicity). maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3) 527 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) TATCCAGGACGATAATTTGGT 0.373000 HNSCC(13;0.011) 6 191 0 0 1 0 0 CTNNA3 29119 broad.mit.edu 37 10 68940226 68940226 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:68940226G>A ENST00000433211.1 - 7 1070 c.896C>T c.(895-897)tCa>tTa p.S299L CTNNA3_ENST00000545309.1_Missense_Mutation_p.S299L|CTNNA3_ENST00000373744.4_Missense_Mutation_p.S299L NM_013266.2 NP_037398.2 Q9UI47 CTNA3_HUMAN catenin (cadherin-associated protein), alpha 3 299 cell-cell adhesion actin cytoskeleton|cytoplasm|fascia adherens cadherin binding|structural molecule activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1) 95 TTTCTCTAGTGATGGTCGTAT 0.458000 26 57 0 0 1 0 0 CALR3 125972 broad.mit.edu 37 19 16591433 16591433 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:16591433C>T ENST00000269881.3 - 8 1065 c.1003G>A c.(1003-1005)Gaa>Aaa p.E335K CTD-3222D19.2_ENST00000409035.1_3'UTR NM_145046.4 NP_659483.2 Q96L12 CALR3_HUMAN calreticulin 3 335 C-domain. protein folding endoplasmic reticulum lumen calcium ion binding|sugar binding|unfolded protein binding NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|prostate(1)|skin(1) 15 ACCTTGGTTTCGCCCCAGGTG 0.393000 19 37 0 0 1 0 0 CDHR3 222256 broad.mit.edu 37 7 105658335 105658335 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:105658335C>T ENST00000542731.1 + 12 1578 c.1470C>T c.(1468-1470)ctC>ctT p.L490L CDHR3_ENST00000343407.5_Intron|CDHR3_ENST00000317716.9_Silent_p.L490L|CDHR3_ENST00000478080.1_Silent_p.L402L|CDHR3_ENST00000470188.1_Intron Q6ZTQ4 CDHR3_HUMAN cadherin-related family member 3 490 Cadherin 5. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(1)|cervix(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(1) 23 ATAAAGACCTCCCCCAGAGCA 0.517000 6 22 0 0 1 0 0 NEBL 10529 broad.mit.edu 37 10 21098790 21098790 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:21098790G>A ENST00000377122.4 - 25 2952 c.2556C>T c.(2554-2556)ttC>ttT p.F852F NEBL_ENST00000417816.2_Intron|NEBL_ENST00000377159.4_Intron NM_006393.2 NP_006384.1 O76041 NEBL_HUMAN nebulette 852 Linker. regulation of actin filament length actin binding|structural constituent of muscle p.F852F(1) NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 70 GATCAAGGTCGAAGATGGAGC 0.388000 26 64 0 0 1 0 0 BSN 8927 broad.mit.edu 37 3 49662585 49662585 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:49662585G>A ENST00000296452.4 + 2 516 c.402G>A c.(400-402)agG>agA p.R134R NM_003458.3 NP_003449.2 Q9UPA5 BSN_HUMAN bassoon presynaptic cytomatrix protein 134 synaptic transmission cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome metal ion binding breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 106 BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336) TAGACAGCAGGACACAGAGAT 0.657000 18 64 0 0 1 0 0 LLGL2 3993 broad.mit.edu 37 17 73565333 73565333 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:73565333C>T ENST00000392550.3 + 14 1625 c.1508C>T c.(1507-1509)cCc>cTc p.P503L LLGL2_ENST00000167462.5_Missense_Mutation_p.P503L|LLGL2_ENST00000577200.1_Missense_Mutation_p.P503L NM_001031803.1 NP_001026973.1 Q6P1M3 L2GL2_HUMAN lethal giant larvae homolog 2 (Drosophila) 503 cell cycle|cell division|exocytosis|regulation of establishment or maintenance of cell polarity cytoplasm|intracellular membrane-bounded organelle PDZ domain binding NS(1)|breast(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246) all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112) AGTGATGACCCCCGGCTGGGC 0.672000 53 177 0 0 1 0 0 IQGAP2 10788 broad.mit.edu 37 5 75970410 75970410 + Missense_Mutation SNP A A T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:75970410A>T ENST00000274364.6 + 27 3700 c.3403A>T c.(3403-3405)Agg>Tgg p.R1135W IQGAP2_ENST00000502745.1_Missense_Mutation_p.R631W|IQGAP2_ENST00000396234.3_Missense_Mutation_p.R631W|IQGAP2_ENST00000379730.3_Missense_Mutation_p.R637W NM_006633.2 NP_006624.2 Q13576 IQGA2_HUMAN IQ motif containing GTPase activating protein 2 1135 Ras-GAP. small GTPase mediated signal transduction actin cytoskeleton actin binding|calmodulin binding|GTPase inhibitor activity|Ras GTPase activator activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 68 all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149) all cancers(79;1.38e-36) TTCTGACCAAAGGAGAAACTT 0.433000 11 86 0 0 1 0 0 OAS1 4938 broad.mit.edu 37 12 113357409 113357409 + Missense_Mutation SNP C C T rs34354934 byFrequency TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:113357409C>T ENST00000445409.2 + 6 1413 c.1156C>T c.(1156-1158)Ctt>Ttt p.L386F OAS1_ENST00000551241.1_Intron|OAS1_ENST00000202917.5_3'UTR|RP1-71H24.1_ENST00000552784.1_RNA NM_001032409.1 NP_001027581.1 P00973 OAS1_HUMAN 2'-5'-oligoadenylate synthetase 1, 40/46kDa 0 interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway endoplasmic reticulum|microsome|mitochondrion|nucleus ATP binding|nucleotidyltransferase activity|RNA binding cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(2)|skin(1) 16 ggaccagttccttcattttca 0.542000 13 36 0 0 1 0 0 CNTN5 53942 broad.mit.edu 37 11 99941221 99941221 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:99941221G>A ENST00000524871.1 + 11 1518 c.1228G>A c.(1228-1230)Gaa>Aaa p.E410K CNTN5_ENST00000528682.1_Missense_Mutation_p.E410K|CNTN5_ENST00000527185.1_Missense_Mutation_p.E410K|CNTN5_ENST00000279463.3_Missense_Mutation_p.E410K|CNTN5_ENST00000418526.2_Missense_Mutation_p.E336K NM_014361.3 NP_055176.1 O94779 CNTN5_HUMAN contactin 5 410 Ig-like C2-type 4. cell adhesion anchored to membrane|plasma membrane protein binding NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 81 all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219) BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196) TCTCCGATGGGAATGTAAGGC 0.468000 12 11 0 0 1 0 0 AHR 196 broad.mit.edu 37 7 17374610 17374610 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:17374610C>T ENST00000242057.4 + 8 1651 c.1008C>T c.(1006-1008)tcC>tcT p.S336S NM_001621.4 NP_001612.1 P35869 AHR_HUMAN aryl hydrocarbon receptor 336 PAS 2. apoptosis|blood vessel development|cell cycle|regulation of B cell proliferation|response to stress|transcription from RNA polymerase II promoter|xenobiotic metabolic process cytosolic aryl hydrocarbon receptor complex|transcription factor complex Hsp90 protein binding|ligand-dependent nuclear receptor activity|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding NS(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|urinary_tract(3) 33 Lung NSC(10;0.0392)|all_lung(11;0.0754) GTGCCGAGTCCCATATCCGAA 0.378000 7 105 0 0 1 0 0 ADAMDEC1 27299 broad.mit.edu 37 8 24256925 24256925 + Nonsense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:24256925C>T ENST00000538205.1 + 11 1259 c.712C>T c.(712-714)Cga>Tga p.R238* RP11-624C23.1_ENST00000519689.1_RNA|ADAMDEC1_ENST00000256412.4_Nonsense_Mutation_p.R317*|RP11-624C23.1_ENST00000523578.1_RNA|ADAMDEC1_ENST00000522298.1_Nonsense_Mutation_p.R238* NM_001145271.1 NP_001138743.1 O15204 ADEC1_HUMAN ADAM-like, decysin 1 317 Peptidase M12B. integrin-mediated signaling pathway|negative regulation of cell adhesion|proteolysis extracellular region|integral to membrane integrin binding|metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|large_intestine(4)|skin(2)|stomach(1) 9 Prostate(55;0.0181) Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)|BRCA - Breast invasive adenocarcinoma(99;0.168) CTTCAACAATCGACGTGTGGG 0.393000 13 105 0 0 1 0 0 STXBP5L 9515 broad.mit.edu 37 3 120673832 120673832 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:120673832G>A ENST00000273666.6 + 3 506 c.235G>A c.(235-237)Gat>Aat p.D79N STXBP5L_ENST00000472879.1_Missense_Mutation_p.D79N|STXBP5L_ENST00000497029.1_Missense_Mutation_p.D79N|STXBP5L_ENST00000492541.1_Missense_Mutation_p.D79N|STXBP5L_ENST00000471454.1_Missense_Mutation_p.D79N NM_014980.2 NP_055795.1 Q9Y2K9 STB5L_HUMAN syntaxin binding protein 5-like 79 exocytosis|protein transport cytoplasm|integral to membrane|plasma membrane NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 68 GBM - Glioblastoma multiforme(114;0.0694) ATTAGCCTTTGATCCAGTTCA 0.383000 21 40 0 0 1 0 0 C11orf88 399949 broad.mit.edu 37 11 111385519 111385519 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:111385519G>A ENST00000529167.1 + 1 10 c.10G>A c.(10-12)Gga>Aga p.G4R C11orf88_ENST00000375618.4_Missense_Mutation_p.G4R|RP11-794P6.6_ENST00000530283.1_RNA|C11orf88_ENST00000332814.6_Missense_Mutation_p.G4R Q6PI97 CK088_HUMAN chromosome 11 open reading frame 88 4 endometrium(1)|large_intestine(3)|lung(2) 6 CATGGAAACGGGACCCAGCGA 0.632000 OREG0021329 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 41 33 0 0 1 0 0 PLEKHA3 65977 broad.mit.edu 37 2 179368610 179368610 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:179368610C>T ENST00000234453.4 + 8 1301 c.899C>T c.(898-900)tCc>tTc p.S300F NM_019091.3 NP_061964.3 Q9HB20 PKHA3_HUMAN pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 3 300 cytoplasm|membrane endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1) 11 OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.0266)|all cancers(119;0.0865) TCCTTCTCTTCCTGAAGAAAC 0.383000 20 46 0 0 1 0 0 HTR1E 3354 broad.mit.edu 37 6 87725347 87725347 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:87725347C>T ENST00000305344.4 + 2 998 c.295C>T c.(295-297)Ctg>Ttg p.L99L HTR1E_ENST00000369584.1_Silent_p.L99L NM_000865.2 NP_000856.1 P28566 5HT1E_HUMAN 5-hydroxytryptamine (serotonin) receptor 1E, G protein-coupled 99 G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission integral to plasma membrane protein binding|serotonin binding|serotonin receptor activity breast(3)|endometrium(2)|kidney(3)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(3) 41 all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819) BRCA - Breast invasive adenocarcinoma(108;0.055) Eletriptan(DB00216) TGAGGTGTGGCTGAGTGTGGA 0.562000 115 40 0 0 1 0 0 OR4D10 390197 broad.mit.edu 37 11 59245289 59245289 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:59245289C>T ENST00000530162.1 + 1 444 c.387C>T c.(385-387)ccC>ccT p.P129P NM_001004705.1 NP_001004705.1 Q8NGI6 OR4DA_HUMAN olfactory receptor, family 4, subfamily D, member 10 129 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 TCTCCAAGCCCCTGCACTATG 0.498000 37 89 0 0 1 0 0 SLC8A3 6547 broad.mit.edu 37 14 70633953 70633953 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr14:70633953G>A ENST00000381269.2 - 2 1940 c.1187C>T c.(1186-1188)tCc>tTc p.S396F SLC8A3_ENST00000357887.3_Missense_Mutation_p.S396F|SLC8A3_ENST00000356921.2_Missense_Mutation_p.S396F|SLC8A3_ENST00000528359.1_Missense_Mutation_p.S396F|SLC8A3_ENST00000534137.1_Missense_Mutation_p.S396F NM_058240.2|NM_183002.1 NP_489479.1|NP_892114.1 P57103 NAC3_HUMAN solute carrier family 8 (sodium/calcium exchanger), member 3 396 Calx-beta 1. cell communication|platelet activation integral to membrane|plasma membrane calcium:sodium antiporter activity|calmodulin binding NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6) 54 BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555) GAAGACCTTGGAAATAAAGTC 0.517000 10 162 0 0 1 0 0 MUSK 4593 broad.mit.edu 37 9 113562950 113562950 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:113562950C>T ENST00000416899.2 + 13 2394 c.2268C>T c.(2266-2268)atC>atT p.I756I MUSK_ENST00000374448.4_Silent_p.I764I|MUSK_ENST00000189978.5_Silent_p.I764I O15146 MUSK_HUMAN muscle, skeletal, receptor tyrosine kinase 764 Protein kinase. transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3) 49 ACGACGCTATCCCTATCCGTT 0.502000 64 125 0 0 1 0 0 IL20RA 53832 broad.mit.edu 37 6 137322911 137322911 + Nonsense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:137322911C>T ENST00000367748.1 - 6 1699 c.1113G>A c.(1111-1113)tgG>tgA p.W371* IL20RA_ENST00000541547.1_Nonsense_Mutation_p.W433*|IL20RA_ENST00000316649.5_Nonsense_Mutation_p.W482* Q9UHF4 I20RA_HUMAN interleukin 20 receptor, alpha 482 integral to membrane receptor activity NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 27 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.000351)|OV - Ovarian serous cystadenocarcinoma(155;0.00459) TTTGGGGATCCCAGTCGACCA 0.627000 48 86 0 0 1 0 0 HCFC1 3054 broad.mit.edu 37 X 153225561 153225561 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chrX:153225561G>A ENST00000310441.7 - 8 2102 c.1136C>T c.(1135-1137)tCc>tTc p.S379F HCFC1_ENST00000369984.4_Missense_Mutation_p.S379F|HCFC1_ENST00000461098.1_5'UTR|HCFC1_ENST00000354233.3_Missense_Mutation_p.S379F NM_005334.2 NP_005325.2 P51610 HCFC1_HUMAN host cell factor C1 (VP16-accessory protein) 379 cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) CACCTCCAGGGAGTTGGTGTT 0.612000 22 13 0 0 1 0 0 LPHN3 23284 broad.mit.edu 37 4 62452952 62452952 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:62452952C>T ENST00000512091.1 + 4 810 c.63C>T c.(61-63)agC>agT p.S21S LPHN3_ENST00000511324.1_Silent_p.S89S|LPHN3_ENST00000506746.1_Silent_p.S89S|LPHN3_ENST00000514157.1_Silent_p.S21S|LPHN3_ENST00000507164.1_Silent_p.S89S|LPHN3_ENST00000508946.1_Silent_p.S21S|LPHN3_ENST00000507625.1_Silent_p.S89S|LPHN3_ENST00000545650.1_Silent_p.S21S|LPHN3_ENST00000514996.1_Silent_p.S21S|LPHN3_ENST00000514591.1_Silent_p.S21S|LPHN3_ENST00000506720.1_Silent_p.S89S|LPHN3_ENST00000504896.1_Silent_p.S21S|LPHN3_ENST00000509896.1_Silent_p.S89S|LPHN3_ENST00000506700.1_Silent_p.S21S|LPHN3_ENST00000508693.1_Silent_p.S89S Q9HAR2 LPHN3_HUMAN latrophilin 3 21 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|sugar binding breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1) 125 CAGCTTTCAGCCGTGCCCCAA 0.453000 3 16 0 0 1 0 0 ESYT3 83850 broad.mit.edu 37 3 138183346 138183346 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:138183346G>A ENST00000389567.4 + 9 1261 c.1075G>A c.(1075-1077)Gaa>Aaa p.E359K NM_031913.3 NP_114119.2 A0FGR9 ESYT3_HUMAN extended synaptotagmin-like protein 3 359 C2 1. integral to membrane|plasma membrane breast(1)|endometrium(5)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(1) 25 CACCTGGAACGAAGTGTTTGA 0.582000 4 119 0 0 1 0 0 PALM2-AKAP2 445815 broad.mit.edu 37 9 112900362 112900362 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:112900362C>T ENST00000374530.3 + 8 2718 c.2538C>T c.(2536-2538)ttC>ttT p.F846F AKAP2_ENST00000555236.1_Silent_p.F846F|AKAP2_ENST00000510514.5_Silent_p.F846F|AKAP2_ENST00000259318.7_Silent_p.F615F|AKAP2_ENST00000374525.1_Silent_p.F704F|AKAP2_ENST00000434623.2_Silent_p.F704F|PALM2-AKAP2_ENST00000302798.7_Silent_p.F846F NM_007203.4|NM_147150.2 NP_009134.1|NP_671492.1 Q9Y2D5 AKAP2_HUMAN 615 enzyme binding breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 44 CTGCGGCTTTCGGCTCAGAAA 0.512000 11 33 0 0 1 0 0 GLB1L3 112937 broad.mit.edu 37 11 134182734 134182734 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:134182734G>A ENST00000431683.2 + 15 1453 c.1453G>A c.(1453-1455)Ggg>Agg p.G485R NM_001080407.2 NP_001073876.2 Q8NCI6 GLBL3_HUMAN galactosidase, beta 1-like 3 485 carbohydrate metabolic process cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|pancreas(1) 13 all_hematologic(175;0.127) all_cancers(12;5.52e-23)|all_epithelial(12;2.15e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|all_neural(223;0.0182)|Medulloblastoma(222;0.0208)|Esophageal squamous(93;0.0559) Epithelial(10;1.3e-11)|all cancers(11;2.07e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000873)|Lung(977;0.222) GACAATGATAGGGATTCTGAA 0.512000 8 4 0 0 1 0 0 KCNH7 90134 broad.mit.edu 37 2 163694970 163694970 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:163694970C>T ENST00000332142.5 - 1 158 c.59G>A c.(58-60)cGg>cAg p.R20Q KCNH7_ENST00000328032.4_Missense_Mutation_p.R20Q NM_033272.3 NP_150375.2 Q9NS40 KCNH7_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 7 20 regulation of transcription, DNA-dependent integral to membrane protein binding|signal transducer activity NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3) 108 Ibutilide(DB00308) TTCAAATTTCCGAATGATGGT 0.567000 22 48 0 0 1 0 0 ERBB2IP 55914 broad.mit.edu 37 5 65371017 65371017 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:65371017C>T ENST00000284037.5 + 23 4311 c.3922C>T c.(3922-3924)Cat>Tat p.H1308Y ERBB2IP_ENST00000416865.2_Missense_Mutation_p.H506Y|ERBB2IP_ENST00000380938.2_Missense_Mutation_p.H1267Y|ERBB2IP_ENST00000511297.1_Missense_Mutation_p.H1263Y|ERBB2IP_ENST00000508515.1_Intron|ERBB2IP_ENST00000380939.2_Missense_Mutation_p.H1256Y|ERBB2IP_ENST00000506030.1_Missense_Mutation_p.H1315Y|ERBB2IP_ENST00000380936.1_Missense_Mutation_p.H1267Y|ERBB2IP_ENST00000503913.1_Intron|ERBB2IP_ENST00000380943.2_Missense_Mutation_p.H1267Y|ERBB2IP_ENST00000380935.1_Intron NM_001253697.1 NP_001240626.1 Q96RT1 LAP2_HUMAN erbb2 interacting protein 1308 basal protein localization|cell adhesion|cell cycle|cell growth|epidermal growth factor receptor signaling pathway|establishment or maintenance of epithelial cell apical/basal polarity|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization basement membrane|cytoplasm|hemidesmosome|nucleus ErbB-2 class receptor binding|integrin binding|structural constituent of cytoskeleton breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|skin(2) 36 Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234) UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191) TACACAGCCCCATTGTTCTCC 0.428000 9 183 0 0 1 0 0 COL1A2 1278 broad.mit.edu 37 7 94043003 94043003 + Splice_Site SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:94043003G>A ENST00000297268.6 + 27 2030 c.1557_splice c.e27-1 p.G520_splice NM_000089.3 NP_000080.2 P08123 CO1A2_HUMAN collagen, type I, alpha 2 520 axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway collagen type I|extracellular space|plasma membrane extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging COL1A2/PLAG1(3) NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 115 all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08) STAD - Stomach adenocarcinoma(171;0.0031) Collagenase(DB00048) TATTTTTAGGGTGCTCCAGGT 0.433000 HNSCC(75;0.22) 38 136 0 0 1 0 0 SATB2 23314 broad.mit.edu 37 2 200193480 200193480 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:200193480G>A ENST00000443023.1 - 7 2615 c.1150C>T c.(1150-1152)Ccc>Tcc p.P384S SATB2_ENST00000417098.1_Missense_Mutation_p.P443S|SATB2_ENST00000457245.1_Missense_Mutation_p.P443S|RP11-486F17.1_ENST00000489557.2_RNA|SATB2_ENST00000428695.1_Missense_Mutation_p.P325S|SATB2_ENST00000260926.5_Missense_Mutation_p.P443S Q9UPW6 SATB2_HUMAN SATB homeobox 2 443 cytoplasm|nuclear matrix sequence-specific DNA binding transcription factor activity breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(40)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 62 CTCACATTGGGATTCATGCTC 0.527000 39 53 0 0 1 0 0 NCOR2 9612 broad.mit.edu 37 12 124821544 124821544 + Missense_Mutation SNP A A C TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:124821544A>C ENST00000356219.3 - 39 6046 c.5891T>G c.(5890-5892)cTc>cGc p.L1964R NCOR2_ENST00000405201.1_Missense_Mutation_p.L1957R|NCOR2_ENST00000404121.2_Missense_Mutation_p.L1518R|NCOR2_ENST00000397355.1_Missense_Mutation_p.L1948R|NCOR2_ENST00000429285.2_Missense_Mutation_p.L1947R|NCOR2_ENST00000404621.1_Missense_Mutation_p.L1947R NM_006312.5 NP_006303.4 Q9Y618 NCOR2_HUMAN nuclear receptor corepressor 2 1968 cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent nuclear body|nucleus|transcriptional repressor complex DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 all_neural(191;0.0804)|Medulloblastoma(191;0.163) Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764) GGGCTTGGCGAGGAAGGCATG 0.746000 5 11 0 0 1 0 0 IFT140 9742 broad.mit.edu 37 16 1621515 1621515 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr16:1621515G>A ENST00000426508.2 - 14 1908 c.1545C>T c.(1543-1545)ctC>ctT p.L515L IFT140_ENST00000439987.2_5'UTR NM_014714.3 NP_055529.2 Q96RY7 IF140_HUMAN intraflagellar transport 140 homolog (Chlamydomonas) 515 p.L515L(1) breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1) 53 Hepatocellular(780;0.219) CCGAGAAAAGGAGGAGTTGTT 0.418000 19 65 0 0 1 0 0 FAM65C 140876 broad.mit.edu 37 20 49225879 49225879 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr20:49225879G>A ENST00000327979.2 - 8 990 c.579C>T c.(577-579)atC>atT p.I193I FAM65C_ENST00000045083.2_Silent_p.I193I|FAM65C_ENST00000535356.1_Silent_p.I197I Q96MK2 FA65C_HUMAN family with sequence similarity 65, member C 193 endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(1)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 GGGCCCCCTCGATGAGCCACA 0.647000 15 33 0 0 1 0 0 PCNT 5116 broad.mit.edu 37 21 47836121 47836121 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr21:47836121C>T ENST00000359568.5 + 30 6396 c.6289C>T c.(6289-6291)Ctg>Ttg p.L2097L PCNT_ENST00000480896.1_3'UTR NM_006031.5 NP_006022.3 O95613 PCNT_HUMAN pericentrin 2097 L -> P (in dbSNP:rs2839245). cilium assembly|G2/M transition of mitotic cell cycle cytosol|microtubule calmodulin binding NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 104 Breast(49;0.112) CACCAAATCTCTGTGGCCCAT 0.512000 7 58 0 0 1 0 0 SLC24A3 57419 broad.mit.edu 37 20 19673922 19673922 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr20:19673922G>A ENST00000328041.6 + 13 1541 c.1344G>A c.(1342-1344)gtG>gtA p.V448V RP4-718D20.3_ENST00000598694.1_RNA|RP4-718D20.3_ENST00000593770.1_RNA|RP4-718D20.3_ENST00000600889.1_RNA|RP4-718D20.3_ENST00000435992.2_RNA NM_020689.3 NP_065740.2 Q9HC58 NCKX3_HUMAN solute carrier family 24 (sodium/potassium/calcium exchanger), member 3 448 integral to membrane|plasma membrane calcium, potassium:sodium antiporter activity|symporter activity breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 TGGAAACAGTGAAATGGGCGT 0.428000 OREG0025804 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 46 74 0 0 1 0 0 AIRE 326 broad.mit.edu 37 21 45708311 45708311 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr21:45708311G>A ENST00000291582.5 + 5 749 c.622G>A c.(622-624)Ggg>Agg p.G208R NM_000383.3 NP_000374.1 O43918 AIRE_HUMAN autoimmune regulator 208 SAND. positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus chromatin binding|histone binding|transcription regulatory region DNA binding|translation regulator activity|zinc ion binding breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|skin(2)|urinary_tract(1) 14 Colorectal(79;0.0806) GGCCGTGGAGGGGATCCTCAT 0.637000 Autoimmune PolyEndocrinopathy Candidiasis Ectodermal Dystrophy 34 74 0 0 1 0 0 GRHL2 79977 broad.mit.edu 37 8 102570812 102570812 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:102570812C>T ENST00000251808.3 + 4 788 c.450C>T c.(448-450)atC>atT p.I150I GRHL2_ENST00000395927.1_Silent_p.I134I NM_024915.3 NP_079191.2 Q6ISB3 GRHL2_HUMAN grainyhead-like 2 (Drosophila) 150 cytoplasm|nucleus DNA binding breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 all_cancers(14;4.39e-08)|all_epithelial(15;4.09e-10)|Lung NSC(17;7.11e-06)|all_lung(17;1.44e-05) Epithelial(11;5.81e-09)|all cancers(13;3.81e-07)|OV - Ovarian serous cystadenocarcinoma(57;0.000213) CTGCCATCATCCCGGTGTCGG 0.527000 55 135 0 0 1 0 0 OR56B4 196335 broad.mit.edu 37 11 6129846 6129846 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:6129846C>T ENST00000316529.3 + 1 933 c.838C>T c.(838-840)Ctt>Ttt p.L280F RP11-290F24.3_ENST00000529961.1_RNA NM_001005181.1 NP_001005181.1 Q8NH76 O56B4_HUMAN olfactory receptor, family 56, subfamily B, member 4 280 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|central_nervous_system(1)|endometrium(1)|lung(10)|skin(6)|urinary_tract(2) 21 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;1.31e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135) TCCTGTGTTCCTTAATGTGCT 0.507000 49 50 0 0 1 0 0 RALGDS 5900 broad.mit.edu 37 9 135978197 135978197 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:135978197G>A ENST00000393160.3 - 13 2070 c.1717C>T c.(1717-1719)Cgg>Tgg p.R573W RALGDS_ENST00000393157.3_Missense_Mutation_p.R627W|RALGDS_ENST00000469972.1_5'UTR|RALGDS_ENST00000372047.3_Missense_Mutation_p.R616W|RALGDS_ENST00000372062.3_Missense_Mutation_p.R599W|RALGDS_ENST00000372050.3_Missense_Mutation_p.R628W|RALGDS_ENST00000542690.1_Missense_Mutation_p.R699W NM_001042368.1 NP_001035827.1 Q12967 GNDS_HUMAN ral guanine nucleotide dissociation stimulator 628 Ras-GEF. nerve growth factor receptor signaling pathway|Ras protein signal transduction|regulation of small GTPase mediated signal transduction cytosol Ral guanyl-nucleotide exchange factor activity endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|upper_aerodigestive_tract(2) 10 OV - Ovarian serous cystadenocarcinoma(145;3.66e-06)|Epithelial(140;2.77e-05) TCCACGGCCCGGAACCAGGCC 0.657000 T CIITA """PMBL, Hodgkin Lymphona, """ 7 27 0 0 1 0 0 ATP10A 57194 broad.mit.edu 37 15 25958934 25958934 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr15:25958934G>A ENST00000356865.6 - 10 2342 c.2231C>T c.(2230-2232)tCc>tTc p.S744F NM_024490.3 NP_077816.1 O60312 AT10A_HUMAN ATPase, class V, type 10A 744 ATP biosynthetic process|regulation of cell shape integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2) 103 all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125) all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244) CTTGCGGACGGAATCGAAACC 0.602000 31 97 0 0 1 0 0 DEFB125 245938 broad.mit.edu 37 20 76859 76859 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr20:76859C>T ENST00000382410.2 + 2 272 c.272C>T c.(271-273)tCc>tTc p.S91F NM_153325.2 NP_697020.2 Q8N687 DB125_HUMAN defensin, beta 125 91 defense response to bacterium extracellular region central_nervous_system(1)|large_intestine(1)|lung(7)|ovary(1)|skin(2) 12 all_cancers(10;7.65e-05)|Lung NSC(37;0.0417)|all_epithelial(17;0.0676)|all_lung(30;0.0713)|Breast(17;0.231) OV - Ovarian serous cystadenocarcinoma(29;0.156) TTTACTGGTTCCCCAGTATCT 0.383000 86 137 0 0 1 0 0 NET1 10276 broad.mit.edu 37 10 5468623 5468623 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:5468623C>T ENST00000355029.4 + 2 276 c.134C>T c.(133-135)tCc>tTc p.S45F NET1_ENST00000542715.1_5'UTR NM_001047160.1 NP_001040625.1 Q7Z628 ARHG8_HUMAN neuroepithelial cell transforming 1 45 Necessary for nuclear localization (By similarity). apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of cell growth|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|nucleus Rho guanyl-nucleotide exchange factor activity breast(4)|kidney(2)|large_intestine(9)|lung(5)|prostate(2)|skin(1) 23 AATAGATGTTCCCTTCGGAGA 0.358000 6 97 0 0 1 0 0 IL21R 50615 broad.mit.edu 37 16 27455990 27455990 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr16:27455990G>A ENST00000337929.3 + 6 1108 c.635G>A c.(634-636)gGg>gAg p.G212E IL21R_ENST00000395754.4_Missense_Mutation_p.G212E|IL21R_ENST00000395755.1_Missense_Mutation_p.G212E|IL21R_ENST00000564583.1_3'UTR|IL21R_ENST00000564089.1_Missense_Mutation_p.G212E NM_181078.2 NP_851564.1 Q9HBE5 IL21R_HUMAN interleukin 21 receptor 212 natural killer cell activation integral to membrane interleukin-21 receptor activity breast(2)|large_intestine(3)|lung(1)|ovary(2) 8 TCCTACCAGGGGACCTGGAGT 0.582000 T BCL6 NHL 35 81 0 0 1 0 0 GCN1L1 10985 broad.mit.edu 37 12 120606033 120606033 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:120606033G>A ENST00000300648.6 - 16 1603 c.1591C>T c.(1591-1593)Ctg>Ttg p.L531L NM_006836.1 NP_006827.1 Q92616 GCN1L_HUMAN GCN1 general control of amino-acid synthesis 1-like 1 (yeast) 531 regulation of translation ribosome protein binding|translation factor activity, nucleic acid binding NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 94 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) GCCATGACCAGGAATTTCTCA 0.448000 48 104 0 0 1 0 0 OR10A7 121364 broad.mit.edu 37 12 55615086 55615086 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:55615086C>T ENST00000326258.1 + 1 278 c.278C>T c.(277-279)tCt>tTt p.S93F NM_001005280.1 NP_001005280.1 Q8NGE5 O10A7_HUMAN olfactory receptor, family 10, subfamily A, member 7 93 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|kidney(1)|lung(11)|ovary(4)|prostate(2)|skin(3) 24 AAAATTATCTCTTTTGTGGGC 0.408000 84 187 0 0 1 0 0 ZC3H4 23211 broad.mit.edu 37 19 47575811 47575811 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:47575811C>T ENST00000253048.5 - 12 1637 c.1600G>A c.(1600-1602)Ggc>Agc p.G534S ZC3H4_ENST00000594019.1_Intron NM_015168.1 NP_055983.1 Q9UPT8 ZC3H4_HUMAN zinc finger CCCH-type containing 4 534 Pro-rich. nucleic acid binding|zinc ion binding NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1) 41 all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889) OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372) ATGGGCCTGCCGTTGGGAGAG 0.756000 5 10 0 0 1 0 0 ZNF768 79724 broad.mit.edu 37 16 30536210 30536210 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr16:30536210G>A ENST00000380412.5 - 2 1426 c.1251C>T c.(1249-1251)atC>atT p.I417I ZNF768_ENST00000562803.1_Silent_p.I386I NM_024671.3 NP_078947.3 Q9H5H4 ZN768_HUMAN zinc finger protein 768 417 regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter DNA-directed RNA polymerase II, core complex DNA binding|zinc ion binding endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1) 15 GGGCATGGGGGATAAGGGCCG 0.672000 7 59 0 0 1 0 0 ZNF558 148156 broad.mit.edu 37 19 8922295 8922295 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:8922295G>A ENST00000601372.1 - 10 1582 c.871C>T c.(871-873)Cct>Tct p.P291S ZNF558_ENST00000444186.2_Missense_Mutation_p.P220S|ZNF558_ENST00000301475.1_Missense_Mutation_p.P291S Q96NG5 ZN558_HUMAN zinc finger protein 558 291 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1) 15 CATTCATAAGGTTTCTCCCCT 0.448000 8 158 0 0 1 0 0 SLC8A3 6547 broad.mit.edu 37 14 70634338 70634338 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr14:70634338C>T ENST00000381269.2 - 2 1555 c.802G>A c.(802-804)Gac>Aac p.D268N SLC8A3_ENST00000357887.3_Missense_Mutation_p.D268N|SLC8A3_ENST00000356921.2_Missense_Mutation_p.D268N|SLC8A3_ENST00000528359.1_Missense_Mutation_p.D268N|SLC8A3_ENST00000534137.1_Missense_Mutation_p.D268N NM_058240.2|NM_183002.1 NP_489479.1|NP_892114.1 P57103 NAC3_HUMAN solute carrier family 8 (sodium/calcium exchanger), member 3 268 Calmodulin-binding (By similarity). cell communication|platelet activation integral to membrane|plasma membrane calcium:sodium antiporter activity|calmodulin binding NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6) 54 BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555) CGGTGTTTGTCTGTGCGGTAC 0.463000 19 64 0 0 1 0 0 NTRK3 4916 broad.mit.edu 37 15 88680724 88680724 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr15:88680724C>T ENST00000394480.1 - 7 854 c.533G>A c.(532-534)gGg>gAg p.G178E NTRK3_ENST00000557856.1_Missense_Mutation_p.G178E|NTRK3_ENST00000558676.1_Missense_Mutation_p.G178E|NTRK3_ENST00000357724.2_Missense_Mutation_p.G178E|NTRK3_ENST00000540489.2_Missense_Mutation_p.G178E|NTRK3_ENST00000542733.2_Missense_Mutation_p.G80E|NTRK3_ENST00000355254.2_Missense_Mutation_p.G178E|NTRK3_ENST00000360948.2_Missense_Mutation_p.G178E|NTRK3_ENST00000317501.3_Missense_Mutation_p.G178E NM_001243101.1|NM_002530.3 NP_001230030.1|NP_002521.2 Q16288 NTRK3_HUMAN neurotrophic tyrosine kinase, receptor, type 3 178 LRRCT. transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity ETV6/NTRK3(238) breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2) 119 BRCA - Breast invasive adenocarcinoma(143;0.211) CTTGGCCTCCCCCTGCTCCTG 0.562000 T ETV6 """congenital fibrosarcoma, Secretory breast """ TSP Lung(13;0.10) 16 30 0 0 1 0 0 GRIN2A 2903 broad.mit.edu 37 16 9934799 9934799 + Silent SNP G G A rs146157761 TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr16:9934799G>A ENST00000396573.2 - 7 1800 c.1491C>T c.(1489-1491)atC>atT p.I497I GRIN2A_ENST00000330684.3_Silent_p.I497I|GRIN2A_ENST00000562109.1_Silent_p.I497I|GRIN2A_ENST00000535259.1_Silent_p.I340I|GRIN2A_ENST00000404927.2_Silent_p.I497I|GRIN2A_ENST00000396575.2_Silent_p.I497I NM_000833.3 NP_000824.1 Q12879 NMDE1_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2A 497 response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding p.I497I(2) NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1) 198 Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) TTACTTCACCGATCATTCCAT 0.428000 50 88 0 0 1 0 0 HCRTR1 3061 broad.mit.edu 37 1 32084905 32084905 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:32084905G>A ENST00000403528.2 + 3 497 c.112G>A c.(112-114)Gat>Aat p.D38N HCRTR1_ENST00000373705.1_Missense_Mutation_p.D38N|HCRTR1_ENST00000468521.1_3'UTR|HCRTR1_ENST00000373706.5_Missense_Mutation_p.D38N NM_001525.2 NP_001516.2 O43613 OX1R_HUMAN hypocretin (orexin) receptor 1 38 feeding behavior|neuropeptide signaling pathway|synaptic transmission integral to plasma membrane breast(2)|large_intestine(1)|lung(2)|ovary(1)|prostate(1) 7 Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.116) STAD - Stomach adenocarcinoma(196;0.053) TCTGTGGCGCGATTATCTGTA 0.612000 106 177 0 0 1 0 0 BLNK 29760 broad.mit.edu 37 10 97983587 97983587 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:97983587C>T ENST00000224337.5 - 6 661 c.520G>A c.(520-522)Gat>Aat p.D174N BLNK_ENST00000371176.2_Missense_Mutation_p.D174N|BLNK_ENST00000413476.2_Missense_Mutation_p.D174N|BLNK_ENST00000427367.2_Missense_Mutation_p.D174N NM_013314.3 NP_037446.1 Q8WV28 BLNK_HUMAN B-cell linker 174 Pro-rich. B cell differentiation|humoral immune response|inflammatory response|intracellular signal transduction cytoplasm|plasma membrane SH3/SH2 adaptor activity|transmembrane receptor protein tyrosine kinase adaptor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(2)|stomach(1) 14 Colorectal(252;0.083) Epithelial(162;7.89e-08)|all cancers(201;2.27e-06) TTTACCTCATCCTCAAGGAGG 0.587000 62 112 0 0 1 0 0 BTNL9 153579 broad.mit.edu 37 5 180472567 180472567 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:180472567C>T ENST00000327705.9 + 2 309 c.78C>T c.(76-78)ctC>ctT p.L26L BTNL9_ENST00000376841.2_Silent_p.L26L|BTNL9_ENST00000376842.3_Silent_p.L26L|BTNL9_ENST00000515271.1_Intron NM_152547.4 NP_689760.2 Q6UXG8 BTNL9_HUMAN butyrophilin-like 9 26 integral to membrane breast(2)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(10)|ovary(1) 19 all_cancers(89;2.45e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114) all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) TCATGCACCTCCTCCTCCTTC 0.617000 35 52 0 0 1 0 0 ZFP57 346171 broad.mit.edu 37 6 29641210 29641210 + Silent SNP A A C TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:29641210A>C ENST00000376883.1 - 6 1029 c.618T>G c.(616-618)ctT>ctG p.L206L ZFP57_ENST00000376881.3_Silent_p.L206L|ZFP57_ENST00000488757.1_Silent_p.L226L Q9NU63 ZFP57_HUMAN ZFP57 zinc finger protein 142 DNA methylation involved in embryo development|regulation of gene expression by genetic imprinting|transcription, DNA-dependent DNA binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(16)|ovary(4)|skin(4)|urinary_tract(5) 44 GCCTCTCCCCAAGATGCATGC 0.547000 10 151 0 0 1 0 0 ACTRT2 140625 broad.mit.edu 37 1 2938921 2938921 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:2938921C>T ENST00000378404.2 + 1 876 c.671C>T c.(670-672)gCc>gTc p.A224V NM_080431.4 NP_536356.3 Q8TDY3 ACTT2_HUMAN actin-related protein T2 224 A -> P (in Ref. 1; BAB85862). cytoplasm|cytoskeleton breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 26 all_cancers(77;0.00205)|all_epithelial(69;0.0011)|Ovarian(185;0.0634)|Lung NSC(156;0.0893)|all_lung(157;0.0909) all_epithelial(116;2.66e-20)|all_lung(118;1.56e-08)|Lung NSC(185;2.54e-06)|Breast(487;0.00156)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123) Epithelial(90;7.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.15e-22)|GBM - Glioblastoma multiforme(42;1.1e-12)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000329)|BRCA - Breast invasive adenocarcinoma(365;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.125) TGCTACGTGGCCTTGGAGCCC 0.637000 49 90 0 0 1 0 0 DSCC1 79075 broad.mit.edu 37 8 120850572 120850572 + Missense_Mutation SNP T T A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:120850572T>A ENST00000313655.4 - 8 1214 c.1000A>T c.(1000-1002)Aat>Tat p.N334Y NM_024094.2 NP_076999.2 Q9BVC3 DCC1_HUMAN DNA replication and sister chromatid cohesion 1 334 DNA replication|maintenance of mitotic sister chromatid cohesion|post-translational protein acetylation|regulation of DNA replication chromatin|chromosome, centromeric region|nucleoplasm DNA binding|protein binding NS(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|pancreas(1) 9 Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161) STAD - Stomach adenocarcinoma(47;0.00185) CGTTCCTGATTATCCTCAGGT 0.363000 6 170 0 0 1 0 0 TIMELESS 8914 broad.mit.edu 37 12 56814782 56814782 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:56814782G>A ENST00000229201.4 - 24 3156 c.3002C>T c.(3001-3003)tCa>tTa p.S1001L TIMELESS_ENST00000553532.1_Missense_Mutation_p.S1002L|TIMELESS_ENST00000554616.1_Missense_Mutation_p.S499L NM_003920.3 NP_003911.2 Q9UNS1 TIM_HUMAN timeless circadian clock 1002 cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent nuclear chromatin NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1) 49 GTTTTCATTTGAAAGGACTAA 0.498000 53 92 0 0 1 0 0 RELN 5649 broad.mit.edu 37 7 103243903 103243903 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:103243903G>A ENST00000428762.1 - 24 3340 c.3181C>T c.(3181-3183)Cca>Tca p.P1061S RELN_ENST00000424685.2_Missense_Mutation_p.P1061S|RELN_ENST00000343529.5_Missense_Mutation_p.P1061S NM_005045.3 NP_005036.2 P78509 RELN_HUMAN reelin 1061 axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2) 227 COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184) GCAGCTTCTGGGTGGCATTCA 0.527000 30 157 0 0 1 0 0 FOLH1 2346 broad.mit.edu 37 11 49194948 49194948 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:49194948G>A ENST00000340334.7 - 11 1509 c.1141C>T c.(1141-1143)Cat>Tat p.H381Y FOLH1_ENST00000256999.2_Missense_Mutation_p.H396Y|FOLH1_ENST00000525629.1_5'UTR|FOLH1_ENST00000343844.4_Missense_Mutation_p.H88Y|FOLH1_ENST00000533034.1_Missense_Mutation_p.H381Y|FOLH1_ENST00000356696.3_Missense_Mutation_p.H396Y NM_001193471.1|NM_001193472.1 NP_001180400.1|NP_001180401.1 Q04609 FOLH1_HUMAN folate hydrolase (prostate-specific membrane antigen) 1 396 NAALADase. proteolysis cytoplasm|integral to plasma membrane|membrane fraction|nucleus carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 60 Capromab(DB00089)|L-Glutamic Acid(DB00142) ACAATTTCATGAACAACAGCT 0.423000 48 98 0 0 1 0 0 CCDC101 112869 broad.mit.edu 37 16 28602162 28602162 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr16:28602162C>T ENST00000317058.3 + 9 858 c.671C>T c.(670-672)cCt>cTt p.P224L NM_138414.2 NP_612423.1 Q96ES7 SGF29_HUMAN coiled-coil domain containing 101 224 SGF29 C-terminal. establishment of protein localization to chromatin|histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent Ada2/Gcn5/Ada3 transcription activator complex|SAGA-type complex methylated histone residue binding central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(4)|skin(1) 10 GAGACGGACCCTGAGGCCTTG 0.642000 17 46 0 0 1 0 0 TAC1 6863 broad.mit.edu 37 7 97363076 97363076 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:97363076C>T ENST00000319273.5 + 3 462 c.165C>T c.(163-165)atC>atT p.I55I TAC1_ENST00000350485.4_Silent_p.I55I|TAC1_ENST00000346867.4_Silent_p.I55I NM_003182.2 NP_003173.1 P20366 TKN1_HUMAN tachykinin, precursor 1 55 detection of abiotic stimulus|elevation of cytosolic calcium ion concentration|insemination|neuropeptide signaling pathway|synaptic transmission|tachykinin receptor signaling pathway extracellular space large_intestine(4)|lung(6)|urinary_tract(1) 11 all_cancers(62;3.95e-09)|all_epithelial(64;1.1e-09)|Esophageal squamous(72;0.00448)|Lung NSC(181;0.0358)|all_lung(186;0.0384) Bacitracin(DB00626) TGCAGAGAATCGCCCGGAGAC 0.592000 22 213 0 0 1 0 0 TECTA 7007 broad.mit.edu 37 11 120996432 120996432 + Missense_Mutation SNP A A T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:120996432A>T ENST00000392793.1 + 8 1896 c.1625A>T c.(1624-1626)gAc>gTc p.D542V TECTA_ENST00000264037.2_Missense_Mutation_p.D542V O75443 TECTA_HUMAN tectorin alpha 542 cell-matrix adhesion|sensory perception of sound anchored to membrane|plasma membrane|proteinaceous extracellular matrix TECTA/TBCEL(2) NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 135 all_hematologic(175;0.208) Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166) ACTGTCGTGGACCCCACTGCT 0.587000 92 79 0 0 1 0 0 CHRND 1144 broad.mit.edu 37 2 233393298 233393298 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:233393298C>T ENST00000457943.2 + 5 469 c.170C>T c.(169-171)tCc>tTc p.S57F CHRND_ENST00000543200.1_Silent_p.F132F|CHRND_ENST00000258385.3_Silent_p.F147F|CHRND_ENST00000536614.1_Silent_p.F147F Q07001 ACHD_HUMAN cholinergic receptor, nicotinic, delta (muscle) 0 muscle contraction|musculoskeletal movement|neuromuscular process|skeletal muscle tissue growth|synaptic transmission cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane nicotinic acetylcholine-activated cation-selective channel activity|receptor activity breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1) 34 all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132) Epithelial(121;1.89e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00078)|Lung(119;0.00579)|LUSC - Lung squamous cell carcinoma(224;0.00754) CTGCCATCTTCCGCTCCTCCT 0.592000 65 174 0 0 1 0 0 FBXW12 285231 broad.mit.edu 37 3 48423339 48423339 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:48423339C>T ENST00000296438.5 + 9 1321 c.1135C>T c.(1135-1137)Cat>Tat p.H379Y FBXW12_ENST00000468158.1_3'UTR|FBXW12_ENST00000436231.1_Missense_Mutation_p.H222Y|FBXW12_ENST00000415155.1_Missense_Mutation_p.H309Y|FBXW12_ENST00000445170.1_Missense_Mutation_p.H360Y NM_207102.2 NP_996985.2 Q6X9E4 FBW12_HUMAN F-box and WD repeat domain containing 12 379 p.H379Y(1) breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) ATTTGAGGACCATCAGGCAGC 0.473000 34 94 0 0 1 0 0 SPEF2 79925 broad.mit.edu 37 5 35774090 35774090 + Missense_Mutation SNP A A G TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:35774090A>G ENST00000440995.2 + 28 4030 c.4030A>G c.(4030-4032)Aaa>Gaa p.K1344E SPEF2_ENST00000356031.3_Missense_Mutation_p.K1349E|CTD-2113L7.1_ENST00000510433.1_RNA Q9C093 SPEF2_HUMAN sperm flagellar 2 1349 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 37 all_lung(31;7.56e-05) Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) GGTCAAAATAAAAGAAGAACA 0.408000 26 104 0 0 1 0 0 NCKAP5 344148 broad.mit.edu 37 2 133541155 133541155 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:133541155C>T ENST00000409261.1 - 14 3602 c.3229G>A c.(3229-3231)Gaa>Aaa p.E1077K NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000317721.6_Missense_Mutation_p.E1077K NM_207363.2 NP_997246.2 O14513 NCKP5_HUMAN NCK-associated protein 5 1077 protein binding NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 118 GACGTCATTTCCAGTGGCTCA 0.512000 90 162 0 0 1 0 0 PRUNE2 158471 broad.mit.edu 37 9 79324980 79324980 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:79324980C>T ENST00000428286.1 - 8 2333 c.1133G>A c.(1132-1134)aGc>aAc p.S378N PRUNE2_ENST00000376718.3_Missense_Mutation_p.S737N Q8WUY3 PRUN2_HUMAN prune homolog 2 (Drosophila) 737 apoptosis|G1 phase|induction of apoptosis cytoplasm metal ion binding|pyrophosphatase activity endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1) 16 GAACGGCAAGCTTTCCTCATT 0.458000 20 28 0 0 1 0 0 RNF217-AS1 7955 broad.mit.edu 37 6 125231629 125231629 + RNA SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:125231629G>A ENST00000439075.1 - 0 3116 NR_026876.1 GAAAGAACTTGATCAAAATGA 0.254000 6 9 0 0 1 0 0 GP2 2813 broad.mit.edu 37 16 20329667 20329667 + Missense_Mutation SNP C C T rs17853083 TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr16:20329667C>T ENST00000302555.5 - 7 1242 c.1093G>A c.(1093-1095)Gaa>Aaa p.E365K GP2_ENST00000381360.5_Missense_Mutation_p.E221K|GP2_ENST00000341642.5_Missense_Mutation_p.E218K|GP2_ENST00000381362.4_Missense_Mutation_p.E368K P55259 GP2_HUMAN glycoprotein 2 (zymogen granule membrane) 368 ZP. anchored to membrane|extracellular region|plasma membrane breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 48 GCATCCCCTTCGTAAGGATTC 0.507000 82 154 0 0 1 0 0 ATP1A2 477 broad.mit.edu 37 1 160099146 160099146 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:160099146C>T ENST00000361216.3 + 11 1506 c.1417C>T c.(1417-1419)Ccc>Tcc p.P473S ATP1A2_ENST00000472488.1_3'UTR|ATP1A2_ENST00000392233.3_Missense_Mutation_p.P473S NM_000702.3 NP_000693.1 P50993 AT1A2_HUMAN ATPase, Na+/K+ transporting, alpha 2 polypeptide 473 ATP biosynthetic process ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 69 all_cancers(52;1.11e-16)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246) AGACAGAAACCCCAAGGTGGC 0.527000 8 342 0 0 1 0 0 B4GALT4 8702 broad.mit.edu 37 3 118945866 118945866 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:118945866G>A ENST00000467604.1 - 4 667 c.276C>T c.(274-276)ttC>ttT p.F92F B4GALT4-AS1_ENST00000470790.1_RNA|B4GALT4_ENST00000460321.1_5'UTR|B4GALT4_ENST00000471675.1_Silent_p.F45F|B4GALT4_ENST00000393765.2_Silent_p.F92F|B4GALT4_ENST00000483209.1_Silent_p.F92F|B4GALT4_ENST00000359213.3_Silent_p.F92F O60513 B4GT4_HUMAN UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 4 92 membrane lipid metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine Golgi cisterna membrane|integral to membrane metal ion binding|N-acetyllactosamine synthase activity breast(2)|endometrium(1)|large_intestine(1)|lung(6)|skin(2)|stomach(2) 14 GBM - Glioblastoma multiforme(114;0.222) N-Acetyl-D-glucosamine(DB00141) GATCTGGTTTGAAAATGAGCT 0.448000 12 74 0 0 1 0 0 ZNF787 126208 broad.mit.edu 37 19 56600430 56600430 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:56600430G>A ENST00000270459.3 - 3 229 c.111C>T c.(109-111)gtC>gtT p.V37V NM_001002836.2 NP_001002836.2 Q6DD87 ZN787_HUMAN zinc finger protein 787 37 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|endometrium(1)|lung(2)|pancreas(1) 5 Colorectal(82;3.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157) GBM - Glioblastoma multiforme(193;0.0559) GCCAGCTGGGGACGTCGTCAT 0.677000 4 6 0 0 1 0 0 LOC148709 148709 broad.mit.edu 37 1 202843412 202843412 + RNA SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:202843412G>A ENST00000456105.2 + 0 1364 NR_002929.2 AGCAGGAGTAGGATGAATCAA 0.493000 4 46 0 0 1 0 0 TRIM43 129868 broad.mit.edu 37 2 96260179 96260179 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:96260179C>T ENST00000272395.2 + 2 544 c.408C>T c.(406-408)caC>caT p.H136H NM_001164464.1|NM_138800.1 NP_001157936.1|NP_620155.1 Q96BQ3 TRI43_HUMAN tripartite motif containing 43 136 intracellular zinc ion binding breast(1)|large_intestine(3)|lung(7)|ovary(1) 12 CTGAGGAACACCGGGTAAGAG 0.488000 6 44 0 0 1 0 0 SYNE4 163183 broad.mit.edu 37 19 36494256 36494256 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:36494256C>T ENST00000324444.3 - 8 1309 c.1198G>A c.(1198-1200)Ggt>Agt p.G400S SYNE4_ENST00000340477.5_Missense_Mutation_p.G287S NM_001039876.1 NP_001034965.1 spectrin repeat containing, nuclear envelope family member 4 GGGGGAAGACCATTGACATAG 0.542000 24 34 0 0 1 0 0 LRRK1 79705 broad.mit.edu 37 15 101598272 101598272 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr15:101598272G>A ENST00000284395.5 + 30 4996 c.4596G>A c.(4594-4596)ggG>ggA p.G1532G LRRK1_ENST00000388948.3_Silent_p.G1535G|RP11-505E24.2_ENST00000559857.1_RNA Q38SD2 LRRK1_HUMAN leucine-rich repeat kinase 1 1535 small GTPase mediated signal transduction mitochondrion ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1) 72 Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094) OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23) TGTGCTGTGGGAAGCAGACAG 0.587000 36 53 0 0 1 0 0 TRPM3 80036 broad.mit.edu 37 9 73167834 73167834 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:73167834G>A ENST00000377110.2 - 23 3707 c.3464C>T c.(3463-3465)aCc>aTc p.T1155I TRPM3_ENST00000423814.3_Missense_Mutation_p.T1182I|TRPM3_ENST00000377105.1_Missense_Mutation_p.T1014I|TRPM3_ENST00000358082.3_Missense_Mutation_p.T1017I|TRPM3_ENST00000396280.5_Missense_Mutation_p.T1004I|TRPM3_ENST00000357533.2_Missense_Mutation_p.T1159I|TRPM3_ENST00000377111.2_Missense_Mutation_p.T1155I|TRPM3_ENST00000396285.1_Missense_Mutation_p.T1014I|TRPM3_ENST00000360823.2_Missense_Mutation_p.T1017I|TRPM3_ENST00000377106.1_Missense_Mutation_p.T1027I|TRPM3_ENST00000396292.4_Missense_Mutation_p.T1027I|TRPM3_ENST00000408909.2_Missense_Mutation_p.T1014I NM_001007471.2 NP_001007472.2 Q9HCF6 TRPM3_HUMAN transient receptor potential cation channel, subfamily M, member 3 1180 integral to membrane calcium channel activity NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1) 95 GAATATCATGGTCATGTGGCT 0.522000 93 275 0 0 1 0 0 SERPINA11 256394 broad.mit.edu 37 14 94909076 94909076 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr14:94909076G>A ENST00000334708.3 - 5 1200 c.1136C>T c.(1135-1137)tCc>tTc p.S379F RP11-349I1.2_ENST00000536735.1_RNA NM_001080451.1 NP_001073920.1 Q86U17 SPA11_HUMAN serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 11 379 regulation of proteolysis extracellular region serine-type endopeptidase inhibitor activity breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(14)|skin(1)|upper_aerodigestive_tract(1) 24 COAD - Colon adenocarcinoma(157;0.211) TGGGGGCTGGGAGAGGAGGCC 0.572000 3 35 0 0 1 0 0 CCDC27 148870 broad.mit.edu 37 1 3670717 3670717 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:3670717C>T ENST00000294600.2 + 2 438 c.354C>T c.(352-354)ttC>ttT p.F118F NM_152492.2 NP_689705.2 Q2M243 CCD27_HUMAN coiled-coil domain containing 27 118 breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(2)|lung(17)|prostate(1)|skin(2)|urinary_tract(2) 36 all_cancers(77;0.0385)|Ovarian(185;0.0634)|Lung NSC(156;0.21)|all_lung(157;0.218) all_epithelial(116;5.52e-17)|all_lung(118;1.04e-06)|Lung NSC(185;0.000214)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Lung SC(97;0.0367)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127) Epithelial(90;1.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.35e-22)|GBM - Glioblastoma multiforme(42;3.46e-16)|Colorectal(212;1.17e-05)|COAD - Colon adenocarcinoma(227;5.76e-05)|Kidney(185;0.00036)|BRCA - Breast invasive adenocarcinoma(365;0.000696)|KIRC - Kidney renal clear cell carcinoma(229;0.00558)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203) TCACCGGCTTCATGTCCAAAA 0.597000 93 166 0 0 1 0 0 OR51S1 119692 broad.mit.edu 37 11 4870161 4870161 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:4870161G>A ENST00000322101.2 - 1 353 c.278C>T c.(277-279)gCc>gTc p.A93V MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron NM_001004758.1 NP_001004758.1 Q8NGJ8 O51S1_HUMAN olfactory receptor, family 51, subfamily S, member 1 93 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 33 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19) ACCAGCAAGGGCGATGCCCAG 0.547000 52 41 0 0 1 0 0 TLE4 7091 broad.mit.edu 37 9 82323056 82323056 + Silent SNP C C G TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:82323056C>G ENST00000376520.4 + 13 1884 c.1056C>G c.(1054-1056)gtC>gtG p.V352V TLE4_ENST00000376544.3_Silent_p.V251V|TLE4_ENST00000265284.6_Silent_p.V295V|TLE4_ENST00000376534.4_5'UTR|TLE4_ENST00000376552.2_Silent_p.V320V|TLE4_ENST00000376537.4_Silent_p.V352V O60756 BCE1_HUMAN transducin-like enhancer of split 4 (E(sp1) homolog, Drosophila) 0 breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 39 CTACTCCCGTCTCAAAGTCCA 0.433000 42 85 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179582050 179582050 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:179582050C>T ENST00000589042.1 - 88 25635 c.25411G>A c.(25411-25413)Gaa>Aaa p.E8471K TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.E8154K|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E7227K|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 8154 Ig-like 67. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GTACCACTTTCTCCAAGAGCA 0.408000 38 57 0 0 1 0 0 OR4S2 219431 broad.mit.edu 37 11 55418484 55418484 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:55418484C>T ENST00000312422.2 + 1 105 c.105C>T c.(103-105)atC>atT p.I35I NM_001004059.2 NP_001004059.2 Q8NH73 OR4S2_HUMAN olfactory receptor, family 4, subfamily S, member 2 35 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(2)|large_intestine(4)|lung(28)|ovary(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 all_epithelial(135;0.0748) TCTACATAATCATTCTTCTGG 0.378000 72 128 0 0 1 0 0 TSSC2 650368 broad.mit.edu 37 11 3427765 3427765 + RNA SNP G G C TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:3427765G>C ENST00000529482.1 + 0 882 CACACGTCCTGCAGTGGCCTG 0.602000 4 58 0 0 1 0 0 ZNF777 27153 broad.mit.edu 37 7 149152507 149152507 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:149152507C>T ENST00000247930.4 - 2 930 c.607G>A c.(607-609)Gcc>Acc p.A203T NM_015694.2 NP_056509.2 Q9ULD5 ZN777_HUMAN zinc finger protein 777 203 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(5)|lung(17)|ovary(1)|skin(2)|urinary_tract(1) 26 Melanoma(164;0.165) OV - Ovarian serous cystadenocarcinoma(82;0.00358) AGCCTCATGGCCTGGGCCTCC 0.602000 51 254 0 0 1 0 0 CCDC33 80125 broad.mit.edu 37 15 74554801 74554801 + Missense_Mutation SNP A A T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr15:74554801A>T ENST00000321288.5 + 5 815 c.815A>T c.(814-816)aAg>aTg p.K272M CCDC33_ENST00000398814.3_Missense_Mutation_p.K69M Q8N5R6 CCD33_HUMAN coiled-coil domain containing 33 272 C2. protein binding breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 39 TCTGAGGAAAAGAACAATCAG 0.567000 40 59 0 0 1 0 0 CYP2C9 1559 broad.mit.edu 37 10 96708958 96708958 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:96708958G>A ENST00000260682.6 + 5 748 c.736G>A c.(736-738)Gaa>Aaa p.E246K NM_000771.3 NP_000762.2 P11712 CP2C9_HUMAN cytochrome P450, family 2, subfamily C, polypeptide 9 246 exogenous drug catabolic process|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid metabolic process|urea metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome (S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|caffeine oxidase activity|drug binding|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 Colorectal(252;0.0902) all cancers(201;6.93e-05) Acenocoumarol(DB01418)|Alosetron(DB00969)|Amiodarone(DB01118)|Antihemophilic Factor(DB00025)|Aprepitant(DB00673)|Bosentan(DB00559)|Carprofen(DB00821)|Carvedilol(DB01136)|Celecoxib(DB00482)|Clomipramine(DB01242)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Desogestrel(DB00304)|Diclofenac(DB00586)|Esomeprazole(DB00736)|Etodolac(DB00749)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Glibenclamide(DB01016)|Glimepiride(DB00222)|Glipizide(DB01067)|Guanfacine(DB01018)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Imipramine(DB00458)|Irbesartan(DB01029)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Losartan(DB00678)|Lumiracoxib(DB01283)|Marinol(DB00470)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mephenytoin(DB00532)|Metronidazole(DB00916)|Miconazole(DB01110)|Midazolam(DB00683)|Montelukast(DB00471)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Oxymorphone(DB01192)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pravastatin(DB00175)|Quinidine(DB00908)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Sertraline(DB01104)|Sildenafil(DB00203)|Sulfamethoxazole(DB01015)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tenoxicam(DB00469)|Terfenadine(DB00342)|Tolbutamide(DB01124)|Torasemide(DB00214)|Troleandomycin(DB01361)|Valdecoxib(DB00580)|Valsartan(DB00177)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744) TTATATTTTGGAAAAAGTAAA 0.318000 36 69 0 0 1 0 0 TMEM63C 57156 broad.mit.edu 37 14 77685843 77685843 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr14:77685843C>T ENST00000298351.4 + 4 297 c.153C>T c.(151-153)ctC>ctT p.L51L RP11-463C8.4_ENST00000557752.1_3'UTR NM_020431.2 NP_065164.2 Q9P1W3 TM63C_HUMAN transmembrane protein 63C 51 integral to membrane breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(1) 23 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0342) GCCTGTAGCTCGTCCTTGTGG 0.597000 46 101 0 0 1 0 0 ADAMTS19 171019 broad.mit.edu 37 5 128956412 128956412 + Nonsense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:128956412G>A ENST00000274487.4 + 9 1707 c.1562G>A c.(1561-1563)tGg>tAg p.W521* CTC-575N7.1_ENST00000503616.1_RNA NM_133638.3 NP_598377.3 Q8TE59 ATS19_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 19 521 Peptidase M12B. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6) 91 all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) OV - Ovarian serous cystadenocarcinoma(64;0.222) GACGTTTCATGGTCTCGATGT 0.403000 75 164 0 0 1 0 0 SLC7A14 57709 broad.mit.edu 37 3 170198102 170198102 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:170198102G>A ENST00000231706.4 - 7 2284 c.1969C>T c.(1969-1971)Cgg>Tgg p.R657W CLDN11_ENST00000451576.1_Intron|CLDN11_ENST00000486975.1_Intron NM_020949.2 NP_066000.2 Q8TBB6 S7A14_HUMAN solute carrier family 7, member 14 657 integral to membrane amino acid transmembrane transporter activity central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(23)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(4) 53 all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137) Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12) ACCGCAAACCGGATCCATGTG 0.498000 68 124 0 0 1 0 0 PTGFRN 5738 broad.mit.edu 37 1 117516889 117516889 + Missense_Mutation SNP G G C TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:117516889G>C ENST00000393203.2 + 7 2258 c.2111G>C c.(2110-2112)gGa>gCa p.G704A PTGFRN_ENST00000496699.1_3'UTR NM_020440.2 NP_065173.2 Q9P2B2 FPRP_HUMAN prostaglandin F2 receptor inhibitor 704 Ig-like C2-type 6. endoplasmic reticulum membrane|Golgi apparatus|integral to membrane protein binding NS(1)|breast(1)|endometrium(4)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1) 46 Lung SC(450;0.225) all_cancers(81;0.00104)|all_lung(203;8.97e-05)|all_epithelial(167;0.000139)|Lung NSC(69;0.000446) Lung(183;0.0704)|LUSC - Lung squamous cell carcinoma(189;0.227)|Colorectal(144;0.248) GTAATTCGGGGAGATCTGATC 0.438000 58 129 0 0 1 0 0 CCDC150 284992 broad.mit.edu 37 2 197590758 197590758 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:197590758C>T ENST00000389175.4 + 22 2626 c.2491C>T c.(2491-2493)Cta>Tta p.L831L CCDC150_ENST00000487663.1_3'UTR|CCDC150_ENST00000272831.7_Silent_p.L478L|CCDC150_ENST00000409270.1_Silent_p.L318L NM_001080539.1 NP_001074008.1 Q8NCX0 CC150_HUMAN coiled-coil domain containing 150 831 breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(14)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 33 CATAGAAGCTCTAAGAAAGCA 0.418000 9 26 0 0 1 0 0 MATN3 4148 broad.mit.edu 37 2 20205796 20205796 + Nonsense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:20205796G>A ENST00000407540.3 - 2 561 c.499C>T c.(499-501)Cag>Tag p.Q167* MATN3_ENST00000421259.2_Nonsense_Mutation_p.Q167* NM_002381.4 NP_002372.1 O15232 MATN3_HUMAN matrilin 3 167 VWFA. skeletal system development proteinaceous extracellular matrix extracellular matrix structural constituent|protein binding central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(6)|skin(1) 13 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) ATTGCTGTCTGGATGGCTAGG 0.567000 19 71 0 0 1 0 0 SNX29P2 440352 broad.mit.edu 37 16 29370504 29370504 + RNA SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr16:29370504G>A ENST00000398878.3 + 0 1115 SNX29P2_ENST00000507381.1_RNA ATCTTCCAGGGAGCCGTCTAA 0.433000 4 10 0 0 1 0 0 NFATC2 4773 broad.mit.edu 37 20 50139894 50139894 + Missense_Mutation SNP G G T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr20:50139894G>T ENST00000371564.3 - 2 1105 c.886C>A c.(886-888)Cct>Act p.P296T NFATC2_ENST00000396009.3_Missense_Mutation_p.P296T|NFATC2_ENST00000414705.1_Missense_Mutation_p.P276T NM_001258296.1|NM_012340.4 NP_001245225.1|NP_036472.2 Q13469 NFAC2_HUMAN nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2 296 B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug actin cytoskeleton|nucleus|plasma membrane protein binding|sequence-specific DNA binding transcription factor activity EWSR1/NFATC2(9) breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1) 53 Hepatocellular(150;0.248) CCAGCCACAGGGGGGTACCCA 0.706000 11 19 9.70103e-10 9.75819e-10 1 1 0 BBS12 166379 broad.mit.edu 37 4 123663292 123663292 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:123663292G>A ENST00000542236.1 + 3 626 c.245G>A c.(244-246)aGa>aAa p.R82K BBS12_ENST00000314218.3_Missense_Mutation_p.R82K NM_001178007.1 NP_001171478.1 Q6ZW61 BBS12_HUMAN Bardet-Biedl syndrome 12 82 cellular protein metabolic process cilium ATP binding cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|prostate(4) 21 AACACATATAGAACTGGAATC 0.388000 Bardet-Biedl syndrome 38 82 0 0 1 0 0 FREM1 158326 broad.mit.edu 37 9 14812871 14812871 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:14812871G>A ENST00000380881.4 - 17 3650 c.2835C>T c.(2833-2835)gtC>gtT p.V945V FREM1_ENST00000422223.2_Silent_p.V944V|FREM1_ENST00000380880.3_Silent_p.V944V Q5H8C1 FREM1_HUMAN FRAS1 related extracellular matrix 1 944 cell communication|multicellular organismal development basement membrane|integral to membrane metal ion binding|sugar binding breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 GBM - Glioblastoma multiforme(50;3.53e-06) GATCCACTGTGACTCCAGCTC 0.483000 111 79 0 0 1 0 0 WSCD1 23302 broad.mit.edu 37 17 6021381 6021381 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:6021381G>A ENST00000574946.1 + 8 1638 c.1248G>A c.(1246-1248)agG>agA p.R416R WSCD1_ENST00000574232.1_Silent_p.R416R|WSCD1_ENST00000573634.1_Silent_p.R300R|WSCD1_ENST00000317744.5_Silent_p.R416R|WSCD1_ENST00000539421.1_Silent_p.R416R Q658N2 WSCD1_HUMAN WSC domain containing 1 416 integral to membrane sulfotransferase activity breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(1) 35 GTGGCAGGAGGGAGATTGAGA 0.542000 27 66 0 0 1 0 0 GIMAP1 170575 broad.mit.edu 37 7 150417332 150417332 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:150417332C>T ENST00000307194.5 + 3 380 c.240C>T c.(238-240)gtC>gtT p.V80V NM_130759.3 NP_570115.1 GTPase, IMAP family member 1 NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 28 OV - Ovarian serous cystadenocarcinoma(82;0.0145) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) ACGTGGAAGTCGTGGACACTC 0.642000 8 136 0 0 1 0 0 DSC1 1823 broad.mit.edu 37 18 28713970 28713970 + Missense_Mutation SNP C C A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr18:28713970C>A ENST00000257197.3 - 13 2261 c.2000G>T c.(1999-2001)tGt>tTt p.C667F RP11-408H20.2_ENST00000581836.1_RNA|DSC1_ENST00000257198.5_Missense_Mutation_p.C667F NM_004948.3 NP_004939.1 Q08554 DSC1_HUMAN desmocollin 1 667 Cadherin 5. homophilic cell adhesion desmosome|gap junction|integral to membrane|membrane fraction calcium ion binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 53 OV - Ovarian serous cystadenocarcinoma(10;0.00778) TGGAGTTGAACAGTCACATAC 0.368000 30 136 3.03874e-20 3.06976e-20 1 1 0 PKHD1L1 93035 broad.mit.edu 37 8 110457410 110457410 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:110457410G>A ENST00000378402.5 + 38 5416 c.5312G>A c.(5311-5313)gGt>gAt p.G1771D NM_177531.4 NP_803875.2 Q86WI1 PKHL1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 1771 IPT/TIG 10. immune response cytosol|extracellular space|integral to membrane receptor activity NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4) 263 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) GAAGGAGAAGGTTTGGGGACT 0.393000 HNSCC(38;0.096) 34 69 0 0 1 0 0 MYO15A 51168 broad.mit.edu 37 17 18023376 18023376 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:18023376C>T ENST00000205890.5 + 2 1600 c.1262C>T c.(1261-1263)cCc>cTc p.P421L NM_016239.3 NP_057323.3 Q9UKN7 MYO15_HUMAN myosin XVA 421 Myosin head-like. sensory perception of sound cytoplasm|myosin complex|stereocilium actin binding|ATP binding|calmodulin binding|motor activity breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 99 all_neural(463;0.228) ATCCCGTCGCCCCACAACCCG 0.667000 5 128 0 0 1 0 0 ABCA7 10347 broad.mit.edu 37 19 1052008 1052008 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:1052008G>A ENST00000263094.6 + 22 3261 c.3030G>A c.(3028-3030)gtG>gtA p.V1010V ABCA7_ENST00000435683.2_Silent_p.V872V|ABCA7_ENST00000433129.1_Silent_p.V1010V NM_019112.3 NP_061985.2 Q8IZY2 ABCA7_HUMAN ATP-binding cassette, sub-family A (ABC1), member 7 1010 ABC transporter 1. phagocytosis|transmembrane transport ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane ATP binding|ATPase activity|transporter activity NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 65 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GTGTGGCCGTGGTGGCAGGTG 0.672000 37 59 0 0 1 0 0 ECHDC2 55268 broad.mit.edu 37 1 53372167 53372167 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:53372167C>T ENST00000541281.1 - 6 712 c.343G>A c.(343-345)Ggg>Agg p.G115R ECHDC2_ENST00000371522.4_Intron|ECHDC2_ENST00000358358.5_Intron|ECHDC2_ENST00000536120.1_Intron Q86YB7 ECHD2_HUMAN enoyl CoA hydratase domain containing 2 0 fatty acid metabolic process mitochondrion lyase activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1) 12 GCCCCACCCCCTGCCCCCAGT 0.597000 6 13 0 0 1 0 0 TEX101 83639 broad.mit.edu 37 19 43920565 43920565 + Silent SNP G G A rs60313023 byFrequency TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:43920565G>A ENST00000602198.1 + 6 745 c.303G>A c.(301-303)ccG>ccA p.P101P TEX101_ENST00000598265.1_Silent_p.P83P|TEX101_ENST00000601707.1_3'UTR|TEX101_ENST00000253435.7_Silent_p.P101P NM_031451.4 NP_113639.4 Q9BY14 TX101_HUMAN testis expressed 101 83 anchored to membrane|plasma membrane large_intestine(1)|lung(12)|ovary(1)|skin(1) 15 Prostate(69;0.0199) GCTGCATCCCGGAAGGGGAGG 0.537000 65 162 0 0 1 0 0 CUZD1 50624 broad.mit.edu 37 10 124596536 124596536 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:124596536C>T ENST00000368904.1 - 7 1577 c.628G>A c.(628-630)Gat>Aat p.D210N CUZD1_ENST00000545804.1_Missense_Mutation_p.D210N|CUZD1_ENST00000392790.1_Missense_Mutation_p.D210N Q86UP6 CUZD1_HUMAN CUB and zona pellucida-like domains 1 210 CUB 2. cell cycle|cell division|cell proliferation|substrate-dependent cell migration, cell attachment to substrate|trypsinogen activation integral to membrane|transport vesicle membrane|zymogen granule membrane NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|stomach(1) 39 all_neural(114;0.169)|Glioma(114;0.222) Colorectal(40;0.126)|COAD - Colon adenocarcinoma(40;0.141) GCAAGAAAATCAAATTTGCAC 0.433000 22 26 0 0 1 0 0 COL18A1 80781 broad.mit.edu 37 21 46901890 46901890 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr21:46901890C>T ENST00000359759.4 + 13 2891 c.2870C>T c.(2869-2871)cCt>cTt p.P957L COL18A1_ENST00000355480.5_Missense_Mutation_p.P722L|COL18A1_ENST00000400337.2_Missense_Mutation_p.P542L P39060 COIA1_HUMAN collagen, type XVIII, alpha 1 957 Triple-helical region 3 (COL3). cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception collagen|extracellular space extracellular matrix structural constituent|metal ion binding|protein binding breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 25 Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929) CCCCCAGGCCCTCCGGGAAGA 0.597000 13 22 0 0 1 0 0 NRAP 4892 broad.mit.edu 37 10 115384623 115384623 + Missense_Mutation SNP A A T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:115384623A>T ENST00000369358.4 - 22 2579 c.2335T>A c.(2335-2337)Ttc>Atc p.F779I NRAP_ENST00000359988.3_Missense_Mutation_p.F771I|NRAP_ENST00000369360.3_Missense_Mutation_p.F744I|NRAP_ENST00000360478.3_Missense_Mutation_p.F736I Q86VF7 NRAP_HUMAN nebulin-related anchoring protein 771 fascia adherens|muscle tendon junction actin binding|muscle alpha-actinin binding|zinc ion binding autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 95 Colorectal(252;0.0233)|Breast(234;0.188) Epithelial(162;0.00392)|all cancers(201;0.00569) GCCTGCAGGAAGAGAGGCTCG 0.532000 44 108 0 0 1 0 0 CD58 965 broad.mit.edu 37 1 117087060 117087060 + Missense_Mutation SNP A A T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:117087060A>T ENST00000457047.2 - 2 290 c.237T>A c.(235-237)aaT>aaA p.N79K CD58_ENST00000369487.3_Missense_Mutation_p.N79K|CD58_ENST00000369489.5_Missense_Mutation_p.N79K NM_001144822.1 NP_001138294.1 P19256 LFA3_HUMAN CD58 molecule 79 blood coagulation|cell-cell adhesion|leukocyte migration anchored to membrane|integral to plasma membrane protein binding endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(3)|urinary_tract(1) 9 Lung SC(450;0.225) all_cancers(81;0.000363)|all_lung(203;0.000118)|all_epithelial(167;0.000149)|Lung NSC(69;0.000577) Lung(183;0.0086)|LUSC - Lung squamous cell carcinoma(189;0.0528)|Colorectal(144;0.0775)|all cancers(265;0.109)|Epithelial(280;0.118)|COAD - Colon adenocarcinoma(174;0.121) AATAAACCCTATTTTTAAAAG 0.343000 35 73 0 0 1 0 0 GRID1 2894 broad.mit.edu 37 10 87614298 87614298 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:87614298G>A ENST00000327946.7 - 8 1273 c.1188C>T c.(1186-1188)atC>atT p.I396I NM_017551.2 NP_060021.1 Q9ULK0 GRID1_HUMAN glutamate receptor, ionotropic, delta 1 396 cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5) 106 L-Glutamic Acid(DB00142) TAGTGCCAAGGATTTCAAACT 0.507000 Multiple Myeloma(13;0.14) 27 85 0 0 1 0 0 CCDC47 57003 broad.mit.edu 37 17 61833655 61833655 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:61833655G>A ENST00000225726.5 - 8 1275 c.893C>T c.(892-894)tCt>tTt p.S298F CCDC47_ENST00000403162.3_Missense_Mutation_p.S298F|CCDC47_ENST00000582252.1_Missense_Mutation_p.S298F NM_020198.2 NP_064583.2 Q96A33 CCD47_HUMAN coiled-coil domain containing 47 298 integral to membrane protein binding endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|urinary_tract(1) 18 GATGGCCAAAGAGTCCGGCAG 0.418000 14 110 0 0 1 0 0 CPD 1362 broad.mit.edu 37 17 28758895 28758895 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:28758895C>T ENST00000225719.4 + 8 2199 c.2123C>T c.(2122-2124)tCc>tTc p.S708F CPD_ENST00000543464.2_Missense_Mutation_p.S461F NM_001304.4 NP_001295.2 O75976 CBPD_HUMAN carboxypeptidase D 708 Carboxypeptidase-like 2. proteolysis integral to membrane metallocarboxypeptidase activity|serine-type carboxypeptidase activity|zinc ion binding central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(13)|skin(5)|stomach(1)|urinary_tract(1) 36 CTTTCTTATTCCAAGGTAGGC 0.338000 21 49 0 0 1 0 0 MAGEB6 158809 broad.mit.edu 37 X 26212784 26212784 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chrX:26212784G>A ENST00000379034.1 + 2 970 c.821G>A c.(820-822)gGa>gAa p.G274E NM_173523.2 NP_775794.2 Q8N7X4 MAGB6_HUMAN melanoma antigen family B, 6 274 MAGE. breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2) 33 CCCAGTGAAGGAATTCTGAGT 0.532000 68 38 0 0 1 0 0 MBD5 55777 broad.mit.edu 37 2 149247360 149247360 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:149247360C>T ENST00000407073.1 + 12 4457 c.3460C>T c.(3460-3462)Cat>Tat p.H1154Y MBD5_ENST00000404807.1_Missense_Mutation_p.H1387Y NM_018328.4 NP_060798.2 Q9P267 MBD5_HUMAN methyl-CpG binding domain protein 5 1154 chromosome|nucleus chromatin binding|DNA binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3) 62 BRCA - Breast invasive adenocarcinoma(221;0.0569) AGGTGTTGATCATGATGGTAG 0.488000 46 64 0 0 1 0 0 ABCG1 9619 broad.mit.edu 37 21 43708058 43708058 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr21:43708058C>T ENST00000398437.1 + 10 1619 c.1471C>T c.(1471-1473)Cgg>Tgg p.R491W ABCG1_ENST00000343687.3_Missense_Mutation_p.R356W|ABCG1_ENST00000398449.3_Missense_Mutation_p.R345W|ABCG1_ENST00000398457.2_Missense_Mutation_p.R347W|ABCG1_ENST00000361802.2_Missense_Mutation_p.R345W|ABCG1_ENST00000340588.4_Missense_Mutation_p.R453W|ABCG1_ENST00000347800.2_Missense_Mutation_p.R342W|ABCG1_ENST00000462050.1_3'UTR P45844 ABCG1_HUMAN ATP-binding cassette, sub-family G (WHITE), member 1 345 ABC transmembrane type-2. amyloid precursor protein catabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|detection of hormone stimulus|high-density lipoprotein particle remodeling|intracellular cholesterol transport|lipoprotein metabolic process|low-density lipoprotein particle remodeling|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|positive regulation of cholesterol biosynthetic process|regulation of cholesterol esterification|regulation of transcription, DNA-dependent|response to lipid|reverse cholesterol transport endoplasmic reticulum membrane|external side of plasma membrane|Golgi membrane|recycling endosome ADP binding|ATP binding|cholesterol transporter activity|glycoprotein transporter activity|phospholipid transporter activity|protein heterodimerization activity|protein homodimerization activity|sterol-transporting ATPase activity|toxin transporter activity breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(3)|prostate(2)|stomach(1) 29 Adenosine triphosphate(DB00171) GAGAGCGGTTCGGGAGGGCAT 0.602000 96 246 0 0 1 0 0 PFN4 375189 broad.mit.edu 37 2 24345362 24345362 + Missense_Mutation SNP G G C TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:24345362G>C ENST00000313213.4 - 2 415 c.44C>G c.(43-45)aCc>aGc p.T15S PFN4_ENST00000465360.1_Intron NM_199346.1 NP_955378.1 Q8NHR9 PROF4_HUMAN profilin family, member 4 15 actin cytoskeleton organization actin cytoskeleton|cytoplasm actin binding breast(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|pancreas(1) 6 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CACATGCTTGGTTCCCAAGAG 0.463000 5 195 0 0 1 0 0 ARHGEF11 9826 broad.mit.edu 37 1 156916532 156916532 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:156916532G>A ENST00000368194.3 - 28 3655 c.2616C>T c.(2614-2616)ttC>ttT p.F872F ARHGEF11_ENST00000361409.2_Silent_p.F832F|ARHGEF11_ENST00000315174.8_Silent_p.F248F NM_198236.2 NP_937879.1 O15085 ARHGB_HUMAN Rho guanine nucleotide exchange factor (GEF) 11 832 DH. actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cell growth|regulation of Rho protein signal transduction|Rho protein signal transduction|striated muscle contraction cytosol|Golgi apparatus|plasma membrane G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2) 81 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) GATAGGAACAGAACTGTGCAG 0.557000 99 309 0 0 1 0 0 SEMA6D 80031 broad.mit.edu 37 15 48063951 48063951 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr15:48063951C>T ENST00000316364.5 + 19 3630 c.3191C>T c.(3190-3192)tCt>tTt p.S1064F SEMA6D_ENST00000537942.1_Missense_Mutation_p.S1002F|SEMA6D_ENST00000354744.4_Missense_Mutation_p.S1008F|SEMA6D_ENST00000389428.3_Missense_Mutation_p.S989F|SEMA6D_ENST00000558816.1_3'UTR|SEMA6D_ENST00000389433.2_Missense_Mutation_p.S1045F|SEMA6D_ENST00000355997.3_3'UTR|SEMA6D_ENST00000389432.2_Missense_Mutation_p.S1021F|SEMA6D_ENST00000558014.1_Missense_Mutation_p.S1002F|SEMA6D_ENST00000358066.4_Missense_Mutation_p.S1002F|SEMA6D_ENST00000536845.2_Missense_Mutation_p.S1064F NM_153618.1 NP_705871.1 Q8NFY4 SEM6D_HUMAN sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D 1064 axon guidance cytoplasm|integral to membrane|plasma membrane receptor activity biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4) 77 all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18) all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06) CAAACCCCATCTGTCAGACCA 0.483000 75 216 0 0 1 0 0 ITPR3 3710 broad.mit.edu 37 6 33641370 33641370 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:33641370C>T ENST00000374316.5 + 24 3991 c.2931C>T c.(2929-2931)ttC>ttT p.F977F ITPR3_ENST00000605930.1_Silent_p.F977F Q14573 ITPR3_HUMAN inositol 1,4,5-trisphosphate receptor, type 3 977 activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 85 TTCTCCAGTTCATCCTCAATG 0.557000 64 375 0 0 1 0 0 OBSCN 84033 broad.mit.edu 37 1 228444413 228444413 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:228444413G>A ENST00000570156.2 + 16 4721 c.4647G>A c.(4645-4647)ggG>ggA p.G1549G OBSCN_ENST00000284548.11_Silent_p.G1457G|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000422127.1_Silent_p.G1457G|OBSCN_ENST00000359599.6_Silent_p.G21G NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 526 Ig-like 16. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding p.G1457G(4) NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) CCCAGGCGGGGGCCAGCACCA 0.622000 39 42 0 0 1 0 0 UNC5D 137970 broad.mit.edu 37 8 35583683 35583683 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:35583683C>T ENST00000287272.2 + 9 1130 c.1110C>T c.(1108-1110)ctC>ctT p.L370L UNC5D_ENST00000416672.1_Silent_p.L444L|UNC5D_ENST00000449677.1_Silent_p.L15L|UNC5D_ENST00000420357.1_Silent_p.L372L|UNC5D_ENST00000453357.2_Silent_p.L434L|UNC5D_ENST00000404895.2_Silent_p.L439L Q6UXZ4 UNC5D_HUMAN unc-5 homolog D (C. elegans) 439 apoptosis|axon guidance integral to membrane receptor activity NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2) 112 READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723) ACTCCCTGCTCCTGAATTCTG 0.502000 50 69 0 0 1 0 0 PLXNB1 5364 broad.mit.edu 37 3 48455480 48455480 + Splice_Site SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:48455480C>T ENST00000358536.4 - 22 4479 c.4209_splice c.e22-1 p.G1404_splice PLXNB1_ENST00000465117.1_5'UTR|PLXNB1_ENST00000448774.2_Splice_Site_p.G15_splice|PLXNB1_ENST00000456774.1_Splice_Site_p.G1221_splice|PLXNB1_ENST00000358459.4_Splice_Site_p.G1221_splice|PLXNB1_ENST00000296440.6_Splice_Site_p.G1404_splice NM_002673.4 NP_002664.2 O43157 PLXB1_HUMAN plexin B1 1404 axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 47 BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619) AGGTTCTCCCCCTGGAACAGA 0.597000 17 58 0 0 1 0 0 SPRY3 10251 broad.mit.edu 37 X 155004375 155004375 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chrX:155004375C>T ENST00000302805.2 + 2 1273 c.842C>T c.(841-843)cCc>cTc p.P281L NM_005840.1 NP_005831.1 O43610 SPY3_HUMAN sprouty homolog 3 (Drosophila) 281 multicellular organismal development|regulation of signal transduction cytoplasm|membrane all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) GCACCCTTCCCCAAGGCCCAG 0.542000 8 124 0 0 1 0 0 FSTL5 56884 broad.mit.edu 37 4 162680563 162680563 + Splice_Site SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:162680563G>A ENST00000306100.5 - 6 1163 c.727_splice c.e6+1 p.Q243_splice FSTL5_ENST00000379164.4_Splice_Site_p.Q242_splice|FSTL5_ENST00000427802.2_Splice_Site_p.Q242_splice|FSTL5_ENST00000536695.1_Splice_Site_p.Q242_splice NM_001128427.2|NM_020116.4 NP_001121899.1|NP_064501.2 Q8N475 FSTL5_HUMAN follistatin-like 5 243 EF-hand 2. extracellular region calcium ion binding p.Q243K(1) central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 91 all_hematologic(180;0.24) COAD - Colon adenocarcinoma(41;0.179) TTGTACTCACGGAATGCTCTA 0.353000 29 65 0 0 1 0 0 PRMT6 55170 broad.mit.edu 37 1 107599391 107599391 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:107599391G>A ENST00000370078.1 + 1 91 c.54G>A c.(52-54)ggG>ggA p.G18G PRMT6_ENST00000361318.5_5'UTR Q96LA8 ANM6_HUMAN protein arginine methyltransferase 6 18 Poly-Gly. base-excision repair|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus histone binding|histone methyltransferase activity (H2A-R3 specific)|histone methyltransferase activity (H3-R2 specific)|histone methyltransferase activity (H4-R3 specific)|protein-arginine omega-N asymmetric methyltransferase activity|protein-arginine omega-N monomethyltransferase activity biliary_tract(1)|breast(2)|kidney(1)|large_intestine(4)|lung(5)|urinary_tract(1) 14 all_epithelial(167;0.000429)|all_lung(203;0.00122)|Lung NSC(277;0.00185) Lung(183;0.0305)|Epithelial(280;0.0765)|Colorectal(144;0.0998)|all cancers(265;0.14)|LUSC - Lung squamous cell carcinoma(189;0.173)|BRCA - Breast invasive adenocarcinoma(282;0.242) GCGAAGGAGGGGAGGGAACTG 0.687000 5 6 0 0 1 0 0 DCC 1630 broad.mit.edu 37 18 50985632 50985632 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr18:50985632G>A ENST00000442544.2 + 24 4039 c.3423G>A c.(3421-3423)agG>agA p.R1141R DCC_ENST00000581580.1_Silent_p.R776R NM_005215.3 NP_005206.2 P43146 DCC_HUMAN deleted in colorectal carcinoma 1141 apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development cytosol|integral to membrane NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6) 148 all_cancers(7;0.11)|all_epithelial(6;0.00126) Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942) CTGGCAAAAGGAAGGGCAGCC 0.473000 29 75 0 0 1 0 0 RAB22A 57403 broad.mit.edu 37 20 56928386 56928386 + Missense_Mutation SNP G G T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr20:56928386G>T ENST00000244040.3 + 4 537 c.256G>T c.(256-258)Gat>Tat p.D86Y NM_020673.2 NP_065724.1 Q9UL26 RB22A_HUMAN RAB22A, member RAS oncogene family 86 endocytosis|endosome organization|protein transport|small GTPase mediated signal transduction early endosome|endosome membrane|plasma membrane GTP binding|GTPase activity|protein binding endometrium(2)|kidney(1)|large_intestine(2)|pancreas(1) 6 all_epithelial(3;5.09e-14)|Lung NSC(12;0.000122)|all_lung(29;0.00042) BRCA - Breast invasive adenocarcinoma(13;6.2e-12)|Epithelial(14;4.73e-08)|all cancers(14;4.83e-07) AATCGTTTATGATATCACAAA 0.373000 39 87 5.44703e-19 5.49932e-19 1 1 0 OR2B3 442184 broad.mit.edu 37 6 29054710 29054710 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:29054710C>T ENST00000377173.2 - 1 380 c.316G>A c.(316-318)Gcc>Acc p.A106T NM_001005226.2 NP_001005226.1 olfactory receptor, family 2, subfamily B, member 3 breast(1)|endometrium(1)|kidney(2)|lung(17)|prostate(1)|skin(2) 24 GCACCTAGGGCCAGGAAGATG 0.458000 29 118 0 0 1 0 0 ANO10 55129 broad.mit.edu 37 3 43618700 43618700 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:43618700C>T ENST00000292246.3 - 6 816 c.646G>A c.(646-648)Gag>Aag p.E216K ANO10_ENST00000350459.4_Intron|ANO10_ENST00000396091.3_Missense_Mutation_p.E150K|ANO10_ENST00000414522.2_Missense_Mutation_p.E216K|ANO10_ENST00000451430.2_Missense_Mutation_p.E105K NM_018075.3 NP_060545.3 Q9NW15 ANO10_HUMAN anoctamin 10 216 cell death chloride channel complex chloride channel activity NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(3)|skin(3) 29 GTGAAATACTCCAAAAATCCA 0.388000 17 45 0 0 1 0 0 DNAH5 1767 broad.mit.edu 37 5 13752243 13752243 + Splice_Site SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:13752243C>T ENST00000265104.4 - 64 11132 c.11028_splice c.e64+1 p.K3676_splice NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 3676 AAA 5 (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) TTTAACCTACCTTAAAGGTAG 0.378000 Kartagener syndrome 26 29 0 0 1 0 0 NBPF10 100132406 broad.mit.edu 37 1 145299840 145299840 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:145299840C>T ENST00000342960.5 + 6 924 c.889C>T c.(889-891)Ccc>Tcc p.P297S RP11-458D21.5_ENST00000468030.1_3'UTR|NBPF10_ENST00000369338.1_Missense_Mutation_p.P26S|NBPF10_ENST00000369339.2_Intron NM_001039703.4 NP_001034792.4 A6NDV3 A6NDV3_HUMAN neuroblastoma breakpoint family, member 10 297 NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2) 73 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) GAAATTGCGCCCCCAGCTGGC 0.483000 56 604 0 0 1 0 0 RNF123 63891 broad.mit.edu 37 3 49753415 49753415 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:49753415C>T ENST00000327697.6 + 33 3455 c.3311C>T c.(3310-3312)tCt>tTt p.S1104F RNF123_ENST00000433785.1_Missense_Mutation_p.S216F NM_022064.3 NP_071347.2 Q5XPI4 RN123_HUMAN ring finger protein 123 1104 cytoplasm ligase activity|protein binding|zinc ion binding NS(1)|breast(4)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 38 BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255) CGGCCTACCTCTGAGATGCTG 0.592000 32 94 0 0 1 0 0 VOPP1 81552 broad.mit.edu 37 7 55560108 55560108 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:55560108G>A ENST00000285279.5 - 4 395 c.195C>T c.(193-195)ttC>ttT p.F65F VOPP1_ENST00000433959.1_Silent_p.F56F|VOPP1_ENST00000428648.1_5'UTR|VOPP1_ENST00000428097.1_5'UTR|VOPP1_ENST00000454227.1_Silent_p.F2F|VOPP1_ENST00000453256.1_5'UTR|VOPP1_ENST00000418904.1_Silent_p.F48F|VOPP1_ENST00000427700.1_Silent_p.F63F|VOPP1_ENST00000545390.1_Silent_p.F62F NM_030796.3 NP_110423.3 Q96AW1 VOPP1_HUMAN vesicular, overexpressed in cancer, prosurvival protein 1 65 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasmic vesicle membrane|endosome|integral to organelle membrane signal transducer activity endometrium(1)|lung(4) 5 TCATCAGAAGGAACCTGAGGA 0.632000 11 10 0 0 1 0 0 IGHV1OR21-1 390530 broad.mit.edu 37 21 10862823 10862823 + RNA SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr21:10862823C>T ENST00000559480.1 + 0 119 breast(1)|endometrium(1)|kidney(3)|lung(20)|urinary_tract(1) 26 GTGAAGGTCTCCTGCAAGGCT 0.572000 34 320 0 0 1 0 0 SRCIN1 80725 broad.mit.edu 37 17 36717781 36717781 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:36717781G>A ENST00000264659.7 - 7 1842 c.1618C>T c.(1618-1620)Cct>Tct p.P540S SRCIN1_ENST00000578925.1_Missense_Mutation_p.P574S|SRCIN1_ENST00000398579.4_5'UTR NM_025248.2 NP_079524.2 Q9C0H9 SRCN1_HUMAN SRC kinase signaling inhibitor 1 412 Interaction with SNAP25 (By similarity). exocytosis|negative regulation of protein tyrosine kinase activity|positive regulation of protein tyrosine kinase activity|regulation of cell migration|regulation of dendritic spine morphogenesis|substrate adhesion-dependent cell spreading actin cytoskeleton|axon|cell junction|cytoplasm|dendrite|postsynaptic density|postsynaptic membrane protein kinase binding endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1) 19 AGCTCCGAAGGGGGAGCTCCG 0.687000 4 23 0 0 1 0 0 OBSCN 84033 broad.mit.edu 37 1 228481224 228481224 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:228481224G>A ENST00000570156.2 + 46 12399 c.12325G>A c.(12325-12327)Gag>Aag p.E4109K OBSCN_ENST00000284548.11_Missense_Mutation_p.E3680K|OBSCN_ENST00000366707.4_Missense_Mutation_p.E799K|OBSCN_ENST00000422127.1_Missense_Mutation_p.E3680K|OBSCN_ENST00000366709.4_Missense_Mutation_p.E799K|OBSCN_ENST00000359599.6_Missense_Mutation_p.E2527K NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 3151 Ig-like 42. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) GGCCAGGTGTGAGCTGCAGAT 0.637000 9 151 0 0 1 0 0 PEG3 5178 broad.mit.edu 37 19 57325180 57325180 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:57325180C>T ENST00000326441.9 - 10 4993 c.4630G>A c.(4630-4632)Ggc>Agc p.G1544S ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000601070.1_Intron|PEG3_ENST00000593695.1_Missense_Mutation_p.G1418S|PEG3_ENST00000598410.1_Missense_Mutation_p.G1420S|PEG3_ENST00000423103.2_Missense_Mutation_p.G1544S|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000593711.1_Intron NM_006210.2 NP_006201.1 Q9GZU2 PEG3_HUMAN paternally expressed 3 1544 apoptosis|viral reproduction cytoplasm|nucleus nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6) 170 Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0269) TCGATGTAGCCTGAGCACTCC 0.502000 55 100 0 0 1 0 0 C9 735 broad.mit.edu 37 5 39341338 39341338 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:39341338G>A ENST00000263408.4 - 4 481 c.386C>T c.(385-387)tCa>tTa p.S129L C9_ENST00000509186.1_5'UTR NM_001737.3 NP_001728.1 P02748 CO9_HUMAN complement component 9 129 LDL-receptor class A. complement activation, alternative pathway|complement activation, classical pathway|cytolysis|hemolysis by symbiont of host erythrocytes extracellular region|membrane attack complex central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 32 all_lung(31;0.000197) all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511) Epithelial(62;0.158) ATCCTCATCTGAAAAGTCTCC 0.473000 44 355 0 0 1 0 0 TNR 7143 broad.mit.edu 37 1 175331818 175331818 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:175331818G>A ENST00000367674.1 - 14 3543 c.2835C>T c.(2833-2835)atC>atT p.I945I TNR_ENST00000263525.2_Silent_p.I945I NM_003285.2 NP_003276.3 Q92752 TENR_HUMAN tenascin R 945 Fibronectin type-III 7. axon guidance|cell adhesion|signal transduction proteinaceous extracellular matrix p.I945I(1) NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 177 Renal(580;0.146) CAAGAGTACAGATGCGCTCGC 0.532000 63 64 0 0 1 0 0 FERMT2 10979 broad.mit.edu 37 14 53417190 53417190 + Silent SNP G G A rs138988521 TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr14:53417190G>A ENST00000395631.2 - 2 313 c.97C>T c.(97-99)Ctg>Ttg p.L33L FERMT2_ENST00000343279.4_Silent_p.L33L|FERMT2_ENST00000399304.3_Silent_p.L33L|FERMT2_ENST00000553373.1_Silent_p.L33L|FERMT2_ENST00000341590.3_Silent_p.L33L Q96AC1 FERM2_HUMAN fermitin family member 2 33 actin cytoskeleton organization|cell adhesion|cell junction assembly|regulation of cell shape cell cortex|cytosol|focal adhesion|stress fiber binding ERO1L/FERMT2(2) NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 20 Breast(41;0.0342) GTCACTCTCAGGGTGACATCG 0.587000 107 176 0 0 1 0 0 LOC93432 93432 broad.mit.edu 37 7 141896589 141896589 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:141896589C>T ENST00000477922.3 + 40 4659 c.4605C>T c.(4603-4605)tcC>tcT p.S1535S endometrium(1)|lung(5) 6 ATCCATTTTCCAGAAACCACA 0.458000 9 42 0 0 1 0 0 IGHV3-64 28414 broad.mit.edu 37 14 107113910 107113910 + RNA SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr14:107113910C>T ENST00000454421.2 - 0 261 CAGTCCCTTCCCTGGAGCCTG 0.527000 109 390 0 0 1 0 0 VPS52 6293 broad.mit.edu 37 6 33235048 33235048 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:33235048C>T ENST00000445902.2 - 11 1260 c.1042G>A c.(1042-1044)Gga>Aga p.G348R VPS52_ENST00000478934.1_Intron|VPS52_ENST00000482399.1_3'UTR|VPS52_ENST00000436044.2_Missense_Mutation_p.G223R NM_022553.4 NP_072047.4 Q8N1B4 VPS52_HUMAN vacuolar protein sorting 52 homolog (S. cerevisiae) 348 protein transport endosome membrane|Golgi apparatus endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(8)|ovary(4)|skin(1)|upper_aerodigestive_tract(1) 28 CCGCGGGTTCCTAGGGTGAAA 0.562000 38 130 0 0 1 0 0 KIAA1549L 25758 broad.mit.edu 37 11 33667294 33667294 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:33667294C>T ENST00000321505.4 + 16 4761 c.4581C>T c.(4579-4581)tcC>tcT p.S1527S KIAA1549L_ENST00000389726.3_Silent_p.S1533S KIAA1549-like GGGGCTATTCCAGGTCTCGAC 0.542000 49 118 0 0 1 0 0 PXDN 7837 broad.mit.edu 37 2 1643117 1643117 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:1643117C>T ENST00000252804.4 - 20 4080 c.4030G>A c.(4030-4032)Gag>Aag p.E1344K NM_012293.1 NP_036425.1 Q92626 PXDN_HUMAN peroxidasin homolog (Drosophila) 1344 extracellular matrix organization|hydrogen peroxide catabolic process|immune response endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 112 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716) all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228) GGCTTGTCCTCCTGGTAGCTG 0.532000 31 45 0 0 1 0 0 COL11A1 1301 broad.mit.edu 37 1 103427756 103427756 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:103427756C>T ENST00000358392.2 - 40 3443 c.3126G>A c.(3124-3126)ggG>ggA p.G1042G COL11A1_ENST00000353414.4_Silent_p.G991G|COL11A1_ENST00000512756.1_Silent_p.G914G|COL11A1_ENST00000370096.3_Silent_p.G1030G NM_080629.2 NP_542196.2 P12107 COBA1_HUMAN collagen, type XI, alpha 1 1030 Triple-helical region. collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception collagen type XI extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1) 258 all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181) Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248) GACCTCTTTCCCCTGGGAAAC 0.383000 4 93 0 0 1 0 0 PLA2R1 22925 broad.mit.edu 37 2 160879179 160879179 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:160879179C>T ENST00000283243.7 - 7 1497 c.1291G>A c.(1291-1293)Gat>Aat p.D431N PLA2R1_ENST00000392771.1_Missense_Mutation_p.D431N NM_001195641.1|NM_007366.4 NP_001182570.1|NP_031392.3 Q13018 PLA2R_HUMAN phospholipase A2 receptor 1, 180kDa 431 C-type lectin 2. endocytosis extracellular space|integral to plasma membrane receptor activity|sugar binding PLA2R1/RBMS1(2) central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1) 60 GACTCACCATCTCCAAGGAGG 0.388000 51 94 0 0 1 0 0 PLCH1 23007 broad.mit.edu 37 3 155200721 155200721 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:155200721C>T ENST00000460012.1 - 23 3361 c.3004G>A c.(3004-3006)Ggg>Agg p.G1002R PLCH1_ENST00000494598.1_Intron|PLCH1_ENST00000414191.1_Missense_Mutation_p.G1002R|PLCH1_ENST00000340059.7_Missense_Mutation_p.G1040R|PLCH1_ENST00000334686.6_Missense_Mutation_p.G1002R|PLCH1_ENST00000447496.2_3'UTR Q4KWH8 PLCH1_HUMAN phospholipase C, eta 1 1040 lipid catabolic process|phosphatidylinositol-mediated signaling membrane calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4) 107 Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114) ATGGTGTCCCCTTGGCTGGTA 0.448000 51 76 0 0 1 0 0 TLR10 81793 broad.mit.edu 37 4 38775556 38775556 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:38775556G>A ENST00000308973.4 - 4 2261 c.1656C>T c.(1654-1656)acC>acT p.T552T TLR10_ENST00000508334.1_Silent_p.T552T|TLR10_ENST00000361424.2_Silent_p.T552T|TLR10_ENST00000506111.1_Silent_p.T552T NM_001017388.2|NM_001195107.1|NM_030956.3 NP_001017388.1|NP_001182036.1|NP_112218.2 Q9BXR5 TLR10_HUMAN toll-like receptor 10 552 LRRCT. inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway integral to membrane|plasma membrane transmembrane receptor activity breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(2) 25 GGTATTCACAGGTGTATGAAT 0.398000 15 168 0 0 1 0 0 EMR1 2015 broad.mit.edu 37 19 6937290 6937290 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:6937290C>T ENST00000312053.4 + 19 2455 c.2418C>T c.(2416-2418)atC>atT p.I806I EMR1_ENST00000381407.5_Silent_p.I665I|EMR1_ENST00000450315.3_Silent_p.I629I|EMR1_ENST00000250572.8_Silent_p.I741I|EMR1_ENST00000381404.4_Silent_p.I787I NM_001974.4 NP_001965.3 Q14246 EMR1_HUMAN egf-like module containing, mucin-like, hormone receptor-like 1 806 cell adhesion|neuropeptide signaling pathway integral to plasma membrane calcium ion binding|G-protein coupled receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8) 62 all_hematologic(4;0.166) AGCTCTTCATCCTGGGCTGCT 0.552000 59 94 0 0 1 0 0 TRBV19 28568 broad.mit.edu 37 7 142326464 142326464 + RNA SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:142326464C>T ENST00000390393.3 + 0 102 tcattccaGCCTCTGACAAAC 0.512000 10 25 0 0 1 0 0 LRRC8E 80131 broad.mit.edu 37 19 7964961 7964961 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:7964961C>T ENST00000539278.1 - 1 3466 c.306G>A c.(304-306)ggG>ggA p.G102G LRRC8E_ENST00000306708.6_Silent_p.F518F AGGGGCTTTTCCCCCAGGAGC 0.657000 26 24 0 0 1 0 0 RPSAP58 388524 broad.mit.edu 37 19 24010107 24010107 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:24010107C>T ENST00000496398.1 + 4 567 c.144C>T c.(142-144)atC>atT p.I48I RP11-255H23.2_ENST00000471224.1_RNA|RPSAP58_ENST00000354585.4_Silent_p.I48I|RP11-255H23.4_ENST00000599944.1_lincRNA endometrium(1)|kidney(5)|lung(2)|prostate(1)|urinary_tract(1) 10 GCATCTATATCATAAATCTCA 0.443000 12 33 0 0 1 0 0 ABLIM1 3983 broad.mit.edu 37 10 116196121 116196121 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:116196121G>A ENST00000369252.4 - 23 2356 c.2055C>T c.(2053-2055)gcC>gcT p.A685A ABLIM1_ENST00000369266.3_Silent_p.A422A|ABLIM1_ENST00000277895.5_Silent_p.A745A|ABLIM1_ENST00000392952.3_Silent_p.A422A|ABLIM1_ENST00000533213.2_Silent_p.A685A|ABLIM1_ENST00000369253.2_Silent_p.A368A NM_001003407.1|NM_001003408.1 NP_001003407.1|NP_001003408.1 O14639 ABLM1_HUMAN actin binding LIM protein 1 745 axon guidance|cytoskeleton organization|organ morphogenesis|visual perception actin cytoskeleton|cytoplasm actin binding|zinc ion binding breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 30 Colorectal(252;0.0373)|Breast(234;0.231) Epithelial(162;0.0132)|all cancers(201;0.0383) ACACTTCAGGGGCTAAGTGGC 0.438000 39 87 0 0 1 0 0 GUCY2C 2984 broad.mit.edu 37 12 14775011 14775011 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:14775011C>T ENST00000261170.3 - 22 2665 c.2529G>A c.(2527-2529)atG>atA p.M843I NM_004963.3 NP_004954.2 P25092 GUC2C_HUMAN guanylate cyclase 2C (heat stable enterotoxin receptor) 843 Guanylate cyclase. intracellular signal transduction|receptor guanylyl cyclase signaling pathway integral to membrane ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1) 51 CCACCACTTCCATGGGGGTGC 0.418000 30 54 0 0 1 0 0 SPTBN4 57731 broad.mit.edu 37 19 41071420 41071420 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:41071420G>A ENST00000352632.3 + 28 6093 c.6007G>A c.(6007-6009)Gag>Aag p.E2003K SPTBN4_ENST00000598249.1_Missense_Mutation_p.E2003K|SPTBN4_ENST00000392025.1_Missense_Mutation_p.E746K|SPTBN4_ENST00000338932.3_Missense_Mutation_p.E2003K Q9H254 SPTN4_HUMAN spectrin, beta, non-erythrocytic 4 2003 actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport cytosol|nuclear matrix|PML body|spectrin actin binding|ankyrin binding|structural constituent of cytoskeleton breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 73 Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384) CACCTGCCAGGAGCTGGGGCG 0.637000 27 47 0 0 1 0 0 C6orf58 352999 broad.mit.edu 37 6 127912726 127912726 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:127912726C>T ENST00000329722.7 + 6 964 c.952C>T c.(952-954)Cat>Tat p.H318Y NM_001010905.1 NP_001010905.1 Q6P5S2 CF058_HUMAN chromosome 6 open reading frame 58 318 extracellular region kidney(3)|large_intestine(3)|liver(1)|lung(7)|pancreas(1) 15 GBM - Glioblastoma multiforme(226;0.0405)|all cancers(137;0.156) ATATAGAGATCATTCGGAATC 0.279000 13 33 0 0 1 0 0 CDK5R1 8851 broad.mit.edu 37 17 30815029 30815029 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:30815029C>T ENST00000313401.3 + 2 1080 c.391C>T c.(391-393)Cct>Tct p.P131S NM_003885.2 NP_003876.1 Q15078 CD5R1_HUMAN cyclin-dependent kinase 5, regulatory subunit 1 (p35) 131 axon guidance|axonal fasciculation|brain development|cell proliferation|embryo development|ionotropic glutamate receptor signaling pathway|muscarinic acetylcholine receptor signaling pathway|negative regulation of transcription, DNA-dependent|neuron cell-cell adhesion|neuron migration|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of neuron apoptosis|regulation of cyclin-dependent protein kinase activity|regulation of neuron differentiation axon|contractile fiber|cyclin-dependent protein kinase 5 holoenzyme complex|cytosol|dendritic spine|growth cone|neuromuscular junction|neuronal cell body|perinuclear region of cytoplasm|plasma membrane cadherin binding|calcium ion binding|protein kinase binding cervix(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1) 8 Breast(31;0.159)|Ovarian(249;0.182) BRCA - Breast invasive adenocarcinoma(9;0.0938) AGCCCCTCACCCTGCCGTCAC 0.692000 34 89 0 0 1 0 0 TRIM60 166655 broad.mit.edu 37 4 165962599 165962599 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:165962599G>A ENST00000512596.1 + 3 1591 c.1375G>A c.(1375-1377)Gaa>Aaa p.E459K TRIM60_ENST00000341062.5_Missense_Mutation_p.E459K|TRIM60_ENST00000508504.1_Missense_Mutation_p.E459K NM_152620.2 NP_689833.1 Q495X7 TRI60_HUMAN tripartite motif containing 60 459 B30.2/SPRY. intracellular zinc ion binding NS(1)|breast(2)|endometrium(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1) 29 all_hematologic(180;0.221) Prostate(90;0.0959)|Melanoma(52;0.18) GBM - Glioblastoma multiforme(119;0.0844) AACAGATTCCGAACCTCTTAA 0.338000 20 56 0 0 1 0 0 CBLB 868 broad.mit.edu 37 3 105456070 105456070 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:105456070G>A ENST00000264122.4 - 8 1337 c.1016C>T c.(1015-1017)cCt>cTt p.P339L CBLB_ENST00000545639.1_3'UTR|CBLB_ENST00000405772.1_Missense_Mutation_p.P339L|CBLB_ENST00000394027.3_Missense_Mutation_p.P361L|CBLB_ENST00000403724.1_Missense_Mutation_p.P339L NM_170662.3 NP_733762.2 Q13191 CBLB_HUMAN Cbl proto-oncogene B, E3 ubiquitin protein ligase 339 Cbl-PTB.|SH2-like. cell surface receptor linked signaling pathway|NLS-bearing substrate import into nucleus cytoplasm|nucleus calcium ion binding|ligase activity|signal transducer activity|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(2)|urinary_tract(2) 49 AGTTAAATCAGGATTATAACT 0.274000 Mis S AML 33 66 0 0 1 0 0 ADH1B 125 broad.mit.edu 37 4 100235037 100235037 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:100235037C>T ENST00000305046.8 - 6 836 c.769G>A c.(769-771)Gaa>Aaa p.E257K ADH1B_ENST00000394887.3_Missense_Mutation_p.E217K P00325 ADH1B_HUMAN alcohol dehydrogenase 1B (class I), beta polypeptide 257 ethanol oxidation|xenobiotic metabolic process cytosol alcohol dehydrogenase activity, zinc-dependent|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1) 33 OV - Ovarian serous cystadenocarcinoma(123;1.02e-07) Fomepizole(DB01213)|NADH(DB00157) TCAGTCATTTCCTTTAGCACT 0.463000 135 252 0 0 1 0 0 MYH2 4620 broad.mit.edu 37 17 10448716 10448716 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:10448716G>A ENST00000245503.5 - 5 836 c.452C>T c.(451-453)gCc>gTc p.A151V MYH2_ENST00000397183.2_Missense_Mutation_p.A151V|MYH2_ENST00000532183.1_Missense_Mutation_p.A151V|CTC-297N7.7_ENST00000587182.1_RNA NM_017534.5 NP_060004.3 Q9UKX2 MYH2_HUMAN myosin, heavy chain 2, skeletal muscle, adult 151 Myosin head-like. muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4) 176 GTGGGGCGGGGCCTCCTGGCG 0.532000 79 205 0 0 1 0 0 TNFRSF11A 8792 broad.mit.edu 37 18 60021700 60021700 + Nonsense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr18:60021700G>A ENST00000586569.1 + 4 398 c.360G>A c.(358-360)tgG>tgA p.W120* TNFRSF11A_ENST00000269485.7_Nonsense_Mutation_p.W120* NM_003839.2 NP_003830.1 Q9Y6Q6 TNR11_HUMAN tumor necrosis factor receptor superfamily, member 11a, NFKB activator 120 adaptive immune response|cell-cell signaling|circadian temperature homeostasis|monocyte chemotaxis|osteoclast differentiation|positive regulation of cell proliferation|positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling|positive regulation of fever generation by positive regulation of prostaglandin secretion|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|response to interleukin-1|response to lipopolysaccharide external side of plasma membrane|integral to membrane metal ion binding|tumor necrosis factor receptor activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(13)|skin(3)|upper_aerodigestive_tract(1) 29 Colorectal(73;0.188) GGTACCACTGGAGCCAGGACT 0.706000 21 44 0 0 1 0 0 GHR 2690 broad.mit.edu 37 5 42718918 42718918 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:42718918C>T ENST00000230882.4 + 10 1499 c.1309C>T c.(1309-1311)Cat>Tat p.H437Y GHR_ENST00000357703.3_Missense_Mutation_p.H415Y|GHR_ENST00000537449.1_Missense_Mutation_p.H250Y NM_000163.4|NM_001242399.2|NM_001242400.2|NM_001242401.3|NM_001242402.2|NM_001242403.2|NM_001242404.2|NM_001242405.2|NM_001242406.2 NP_000154.1|NP_001229328.1|NP_001229329.1|NP_001229330.1|NP_001229331.1|NP_001229332.1|NP_001229333.1|NP_001229334.1|NP_001229335.1 P10912 GHR_HUMAN growth hormone receptor 437 2-oxoglutarate metabolic process|activation of JAK2 kinase activity|activation of MAPK activity|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|endocytosis|fatty acid metabolic process|growth hormone receptor signaling pathway|insulin-like growth factor receptor signaling pathway|isoleucine metabolic process|JAK-STAT cascade|multicellular organismal metabolic process|oxaloacetate metabolic process|positive regulation of multicellular organism growth|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|receptor internalization|response to cycloheximide|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process cell surface|extracellular space|growth hormone receptor complex|integral to plasma membrane growth factor binding|peptide hormone binding|proline-rich region binding|protein homodimerization activity|protein kinase binding NS(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 39 Myeloproliferative disorder(839;0.00878) Pegvisomant(DB00082)|Somatropin recombinant(DB00052) CTCACCTTATCATGATGCTTG 0.468000 35 105 0 0 1 0 0 ZIC5 85416 broad.mit.edu 37 13 100617672 100617672 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr13:100617672C>T ENST00000267294.4 - 2 2184 c.1951G>A c.(1951-1953)Gaa>Aaa p.E651K NM_033132.3 NP_149123.2 Q96T25 ZIC5_HUMAN Zic family member 5 651 cell differentiation nucleus DNA binding|zinc ion binding endometrium(3)|kidney(1)|lung(2)|prostate(1)|skin(2) 9 all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) CCGTAAATTTCCTCATCTTCA 0.473000 6 125 0 0 1 0 0 PTPRH 5794 broad.mit.edu 37 19 55708490 55708490 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:55708490G>A ENST00000376350.3 - 9 2007 c.1985C>T c.(1984-1986)tCc>tTc p.S662F PTPRH_ENST00000588559.1_5'UTR|PTPRH_ENST00000263434.5_Missense_Mutation_p.S484F NM_002842.3 NP_002833.3 Q9HD43 PTPRH_HUMAN protein tyrosine phosphatase, receptor type, H 662 Fibronectin type-III 7. apoptosis cytoplasm|integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2) 67 Renal(1328;0.245) BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.0479) CTCACATGTGGACGCACAGAG 0.537000 21 62 0 0 1 0 0 SCNN1B 6338 broad.mit.edu 37 16 23364217 23364217 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr16:23364217C>T ENST00000343070.2 + 3 583 c.407C>T c.(406-408)gCc>gTc p.A136V SCNN1B_ENST00000307331.5_Missense_Mutation_p.A181V|SCNN1B_ENST00000568085.1_Missense_Mutation_p.A136V|SCNN1B_ENST00000568923.1_Missense_Mutation_p.A136V|SCNN1B_ENST00000569789.1_3'UTR NM_000336.2 NP_000327.2 P51168 SCNNB_HUMAN sodium channel, non-voltage-gated 1, beta subunit 136 excretion|sensory perception of taste apical plasma membrane ligand-gated sodium channel activity|WW domain binding breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1) 32 GBM - Glioblastoma multiforme(48;0.0465) Amiloride(DB00594)|Triamterene(DB00384) CATGCCAATGCCACCAGGAAC 0.522000 10 143 0 0 1 0 0 WDR6 11180 broad.mit.edu 37 3 49050428 49050428 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:49050428C>T ENST00000395474.3 + 2 1831 c.1551C>T c.(1549-1551)ccC>ccT p.P517P WDR6_ENST00000415265.2_Intron|WDR6_ENST00000448293.1_Silent_p.P436P|WDR6_ENST00000489684.1_Intron NM_018031.3 NP_060501.3 Q9NNW5 WDR6_HUMAN WD repeat domain 6 487 cell cycle arrest|negative regulation of cell proliferation cytoplasm breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 26 Kidney(197;9.12e-07)|KIRC - Kidney renal clear cell carcinoma(197;1.32e-05)|BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000155) ACCTGCTGCCCCCAAGCAAGC 0.612000 26 56 0 0 1 0 0 B3GALT5 10317 broad.mit.edu 37 21 41032486 41032486 + Splice_Site SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr21:41032486G>A ENST00000380620.3 + 5 592 c.e5-1 AF064860.5_ENST00000416555.1_RNA|B3GALT5_ENST00000343118.4_Splice_Site|B3GALT5_ENST00000380618.1_Splice_Site|B3GALT5_ENST00000398714.2_Splice_Site Q9Y2C3 B3GT5_HUMAN UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 5 protein glycosylation endoplasmic reticulum|Golgi membrane|integral to membrane UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1) 16 Prostate(19;2.55e-06) GTTCCTTTCAGATGGCTTTCC 0.418000 45 121 0 0 1 0 0 TMEM115 11070 broad.mit.edu 37 3 50395889 50395889 + Nonsense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:50395889C>T ENST00000266025.3 - 1 1152 c.606G>A c.(604-606)tgG>tgA p.W202* XXcos-LUCA11.5_ENST00000606589.1_Intron NM_007024.4 NP_008955.1 Q12893 TM115_HUMAN transmembrane protein 115 202 negative regulation of cell proliferation Golgi apparatus|integral to membrane|nucleus breast(2)|endometrium(1)|lung(1)|prostate(1) 5 BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607) GAAGATATACCCAACTGGAGA 0.637000 13 70 0 0 1 0 0 RASAL1 8437 broad.mit.edu 37 12 113545940 113545940 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:113545940C>T ENST00000546530.1 - 15 1750 c.1465G>A c.(1465-1467)Gac>Aac p.D489N RASAL1_ENST00000261729.5_Missense_Mutation_p.D488N|RASAL1_ENST00000446861.3_Missense_Mutation_p.D488N|RASAL1_ENST00000418411.2_5'UTR|RASAL1_ENST00000548055.1_Missense_Mutation_p.D488N NM_001193520.1|NM_004658.2 NP_001180449.1|NP_004649.2 O95294 RASL1_HUMAN RAS protein activator like 1 (GAP1 like) 488 Ras-GAP. intracellular signal transduction|negative regulation of Ras protein signal transduction cytoplasm|intrinsic to internal side of plasma membrane metal ion binding|phospholipid binding|Ras GTPase activator activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(3)|prostate(2)|skin(2) 43 GCGTGTTGGTCCCGAAGGTCA 0.552000 13 33 0 0 1 0 0 RFX5 5993 broad.mit.edu 37 1 151314705 151314705 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:151314705G>A ENST00000290524.4 - 11 1986 c.1808C>T c.(1807-1809)tCc>tTc p.S603F RFX5_ENST00000452513.2_Missense_Mutation_p.S563F|RFX5_ENST00000368870.2_Missense_Mutation_p.S603F|RFX5_ENST00000452671.2_Missense_Mutation_p.S603F NM_000449.3|NM_001025603.1 NP_000440.1|NP_001020774.1 P48382 RFX5_HUMAN regulatory factor X, 5 (influences HLA class II expression) 603 nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity endometrium(3)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 20 Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181) CTGGGATAAGGAACTTTGAAG 0.473000 52 169 0 0 1 0 0 FHOD3 80206 broad.mit.edu 37 18 34191995 34191995 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr18:34191995C>T ENST00000257209.4 + 9 1016 c.894C>T c.(892-894)tcC>tcT p.S298S FHOD3_ENST00000359247.4_Silent_p.S298S|FHOD3_ENST00000591635.1_5'UTR|FHOD3_ENST00000445677.1_Silent_p.S298S|FHOD3_ENST00000590592.1_Silent_p.S298S NM_025135.2 NP_079411.2 Q2V2M9 FHOD3_HUMAN formin homology 2 domain containing 3 298 GBD/FH3. actin cytoskeleton organization cytoplasm|cytoskeleton actin binding NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1) 90 all_epithelial(2;0.0181)|Colorectal(2;0.0195) CTGCTGTGTCCCAGAGGCACT 0.502000 33 70 0 0 1 0 0 OR4C15 81309 broad.mit.edu 37 11 55321926 55321926 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:55321926C>T ENST00000314644.2 + 1 144 c.144C>T c.(142-144)ttC>ttT p.F48F NM_001001920.1 NP_001001920.1 Q8NGM1 OR4CF_HUMAN olfactory receptor, family 4, subfamily C, member 15 0 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5) 56 TTGGAGCTTTCATCTTTTCCT 0.373000 HNSCC(20;0.049) 69 144 0 0 1 0 0 ASXL3 80816 broad.mit.edu 37 18 31323674 31323674 + Missense_Mutation SNP A A G TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr18:31323674A>G ENST00000269197.5 + 12 3862 c.3862A>G c.(3862-3864)Act>Gct p.T1288A NM_030632.1 NP_085135.1 Q9C0F0 ASXL3_HUMAN additional sex combs like 3 (Drosophila) 1288 Ser-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1) 43 CATCCAGGGAACTGACACTCC 0.403000 28 71 0 0 1 0 0 AVEN 57099 broad.mit.edu 37 15 34295274 34295274 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr15:34295274G>A ENST00000306730.3 - 2 533 c.404C>T c.(403-405)tCa>tTa p.S135L CHRM5_ENST00000383263.5_Intron NM_020371.2 NP_065104.1 Q9NQS1 AVEN_HUMAN apoptosis, caspase activation inhibitor 135 anti-apoptosis|apoptosis endomembrane system|intracellular|membrane|membrane fraction protein binding cervix(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)|stomach(1) 7 all_lung(180;1.78e-08) all cancers(64;1.66e-15)|GBM - Glioblastoma multiforme(113;1.42e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0359) TCCCCTCTGTGACTCTCCACT 0.383000 33 59 0 0 1 0 0 C7 730 broad.mit.edu 37 5 40964861 40964861 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:40964861C>T ENST00000313164.9 + 14 2127 c.1768C>T c.(1768-1770)Cct>Tct p.P590S NM_000587.2 NP_000578.2 P10643 CO7_HUMAN complement component 7 590 Sushi 1. complement activation, alternative pathway|complement activation, classical pathway|cytolysis extracellular region|membrane attack complex Ovarian(839;0.0112) TACAATGTTTCCTGTGGGGAA 0.373000 30 101 0 0 1 0 0 RYK 6259 broad.mit.edu 37 3 133907765 133907765 + Missense_Mutation SNP T T C TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:133907765T>C ENST00000427044.2 - 10 1061 c.451A>G c.(451-453)Act>Gct p.T151A RYK_ENST00000296084.4_Missense_Mutation_p.T341A P34925 RYK_HUMAN receptor-like tyrosine kinase 337 WIF. corpus callosum development|positive regulation of MAPKKK cascade|Wnt receptor signaling pathway cytoplasm|integral to plasma membrane|nucleus ATP binding|transmembrane receptor protein tyrosine kinase activity lung(1)|ovary(3) 4 CGCCCAAAAGTACCTAAAAGG 0.269000 12 21 0 0 1 0 0 UBE3A 7337 broad.mit.edu 37 15 25605579 25605579 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr15:25605579G>A ENST00000232165.3 - 7 2360 c.1704C>T c.(1702-1704)tcC>tcT p.S568S UBE3A_ENST00000428984.2_Silent_p.S548S|UBE3A_ENST00000566215.1_Silent_p.S548S|UBE3A_ENST00000397954.2_Silent_p.S571S|UBE3A_ENST00000438097.1_Silent_p.S548S|SNHG14_ENST00000554726.1_RNA NM_000462.3|NM_130839.2 NP_000453.2|NP_570854.1 Q05086 UBE3A_HUMAN ubiquitin protein ligase E3A 571 brain development|interspecies interaction between organisms|protein K48-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus|proteasome complex protein binding|ubiquitin-protein ligase activity breast(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3) 38 all_cancers(20;3.47e-21)|Breast(32;0.00123) all cancers(64;2.78e-08)|Epithelial(43;8.85e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0155)|Lung(196;0.0616) AAAATTCTTTGGAAACACCTC 0.378000 28 53 0 0 1 0 0 FLT1 2321 broad.mit.edu 37 13 29001962 29001962 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr13:29001962C>T ENST00000282397.4 - 9 1454 c.1203G>A c.(1201-1203)ggG>ggA p.G401G FLT1_ENST00000541932.1_Silent_p.G401G|FLT1_ENST00000539099.1_Silent_p.G401G NM_002019.4 NP_002010.2 P17948 VGFR1_HUMAN fms-related tyrosine kinase 1 401 Ig-like C2-type 4. cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway extracellular space|Golgi apparatus|integral to plasma membrane|nucleus ATP binding|growth factor binding|vascular endothelial growth factor receptor activity NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 115 Acute lymphoblastic leukemia(6;0.04) Lung SC(185;0.0262)|Breast(139;0.188) Colorectal(13;0.000674) all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207) Sunitinib(DB01268) TTGTATAATTCCCTGCATCCT 0.393000 41 103 0 0 1 0 0 SLC26A8 116369 broad.mit.edu 37 6 35965630 35965630 + Missense_Mutation SNP T T C TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:35965630T>C ENST00000490799.1 - 5 865 c.512A>G c.(511-513)cAa>cGa p.Q171R SLC26A8_ENST00000355574.2_Missense_Mutation_p.Q171R|SLC26A8_ENST00000394602.2_Missense_Mutation_p.Q171R NM_052961.3 NP_443193.1 Q96RN1 S26A8_HUMAN solute carrier family 26 (anion exchanger), member 8 171 cell differentiation|meiosis|multicellular organismal development|spermatogenesis integral to membrane|plasma membrane anion:anion antiporter activity|chloride channel activity|oxalate transmembrane transporter activity|protein binding|sulfate transmembrane transporter activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2) 46 CATGACCAGTTGACCGTTGTT 0.463000 84 101 0 0 1 0 0 TBC1D14 57533 broad.mit.edu 37 4 6925477 6925477 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:6925477G>A ENST00000409757.4 + 2 485 c.361G>A c.(361-363)Gaa>Aaa p.E121K TBC1D14_ENST00000448507.1_Missense_Mutation_p.E121K NM_020773.2 NP_065824.2 Q9P2M4 TBC14_HUMAN TBC1 domain family, member 14 121 intracellular Rab GTPase activator activity breast(1)|endometrium(5)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 22 CACCGAGCGGGAACAGAGCGT 0.632000 9 320 0 0 1 0 0 IPO8 10526 broad.mit.edu 37 12 30829437 30829437 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:30829437G>A ENST00000256079.4 - 6 1062 c.724C>T c.(724-726)Cct>Tct p.P242S IPO8_ENST00000544829.1_Missense_Mutation_p.P37S NM_006390.3 NP_006381.2 O15397 IPO8_HUMAN importin 8 242 intracellular protein transport|signal transduction cytoplasm|nucleus protein transporter activity|Ran GTPase binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(16)|liver(1)|lung(22)|prostate(2)|skin(2)|urinary_tract(2) 52 all_lung(12;6.66e-10)|Lung NSC(12;4.84e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233) CTTACAGGAGGAACGGTCCTG 0.413000 11 36 0 0 1 0 0 VIT 5212 broad.mit.edu 37 2 36994276 36994276 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:36994276G>A ENST00000379242.3 + 7 829 c.527G>A c.(526-528)gGg>gAg p.G176E VIT_ENST00000404084.1_Missense_Mutation_p.G154E|VIT_ENST00000379241.3_Missense_Mutation_p.G176E|VIT_ENST00000497382.1_5'UTR|VIT_ENST00000401530.1_Missense_Mutation_p.G176E|VIT_ENST00000389975.3_Missense_Mutation_p.G176E NM_053276.3 NP_444506.2 Q6UXI7 VITRN_HUMAN vitrin 176 proteinaceous extracellular matrix autonomic_ganglia(1)|breast(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 57 all_hematologic(82;0.248) CCTATTCCAGGGACAACTGCA 0.507000 5 72 0 0 1 0 0 USP25 29761 broad.mit.edu 37 21 17205825 17205825 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr21:17205825G>A ENST00000285681.2 + 17 2521 c.2152G>A c.(2152-2154)Gcg>Acg p.A718T USP25_ENST00000351097.5_Intron|USP25_ENST00000400183.2_Missense_Mutation_p.A718T|USP25_ENST00000285679.6_Missense_Mutation_p.A718T Q9UHP3 UBP25_HUMAN ubiquitin specific peptidase 25 718 protein modification process|ubiquitin-dependent protein catabolic process cytoplasm|nucleus ubiquitin thiolesterase activity|ubiquitin-specific protease activity breast(4)|endometrium(6)|kidney(2)|large_intestine(13)|liver(5)|lung(14)|ovary(4)|prostate(1)|skin(1)|urinary_tract(2) 52 Epithelial(23;7.55e-05)|all cancers(11;0.000429)|COAD - Colon adenocarcinoma(22;0.00543)|OV - Ovarian serous cystadenocarcinoma(11;0.00743)|Colorectal(24;0.0116)|Lung(58;0.0853)|LUSC - Lung squamous cell carcinoma(23;0.0889) AAAGCTTTTAGCGTCTCAGAA 0.338000 13 61 0 0 1 0 0 CCDC151 115948 broad.mit.edu 37 19 11537035 11537035 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:11537035C>T ENST00000356392.4 - 7 979 c.892G>A c.(892-894)Gaa>Aaa p.E298K CCDC151_ENST00000591179.1_Missense_Mutation_p.E238K|CCDC151_ENST00000586836.1_Missense_Mutation_p.E107K|CCDC151_ENST00000545100.1_Missense_Mutation_p.E244K NM_145045.4 NP_659482.3 A5D8V7 CC151_HUMAN coiled-coil domain containing 151 298 endometrium(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1) 12 ATGTAGCGTTCCCGCTTCTTG 0.627000 23 54 0 0 1 0 0 OR56A4 120793 broad.mit.edu 37 11 6023776 6023776 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:6023776G>A ENST00000330728.4 - 1 648 c.603C>T c.(601-603)gtC>gtT p.V201V NM_001005179.2 NP_001005179.2 Q8NGH8 O56A4_HUMAN olfactory receptor, family 56, subfamily A, member 4 149 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|skin(1)|urinary_tract(1) 32 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) CTATAACAAAGACCACGGCCC 0.493000 15 24 0 0 1 0 0 CCT8L2 150160 broad.mit.edu 37 22 17072875 17072875 + Nonsense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr22:17072875C>T ENST00000359963.3 - 1 825 c.566G>A c.(565-567)tGg>tAg p.W189* NM_014406.4 NP_055221.1 Q96SF2 TCPQM_HUMAN chaperonin containing TCP1, subunit 8 (theta)-like 2 189 cellular protein metabolic process cytoplasm anion channel activity|ATP binding|calcium-activated potassium channel activity breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1) 67 all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977) all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175) CTTGATAGCCCAGCAGGCGTG 0.622000 53 85 0 0 1 0 0 PALB2 79728 broad.mit.edu 37 16 23640578 23640578 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr16:23640578G>A ENST00000261584.4 - 6 2685 c.2533C>T c.(2533-2535)Cct>Tct p.P845S NM_024675.3 NP_078951.2 Q86YC2 PALB2_HUMAN partner and localizer of BRCA2 845 double-strand break repair via homologous recombination nucleoplasm DNA binding|protein binding breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(3) 55 GBM - Glioblastoma multiforme(48;0.0167) TCAGAAGCAGGAAGCTCTGCT 0.383000 """F, N, Mis""" """Wilms tumor, medulloblastoma, AML ,breast""" Involved in tolerance or repair of DNA crosslinks 27 72 0 0 1 0 0 ADAMTS13 11093 broad.mit.edu 37 9 136319625 136319625 + Missense_Mutation SNP G G T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:136319625G>T ENST00000371929.3 + 24 3577 c.3133G>T c.(3133-3135)Ggc>Tgc p.G1045C ADAMTS13_ENST00000356589.2_Missense_Mutation_p.G1014C|ADAMTS13_ENST00000355699.2_Missense_Mutation_p.G1045C|ADAMTS13_ENST00000485925.1_3'UTR|ADAMTS13_ENST00000371916.1_3'UTR NM_139025.3|NM_139027.3 NP_620594.1|NP_620596.2 Q76LX8 ATS13_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 13 1045 TSP type-1 7. cell-matrix adhesion|glycoprotein metabolic process|integrin-mediated signaling pathway|peptide catabolic process|platelet activation|protein processing|proteolysis cell surface|proteinaceous extracellular matrix calcium ion binding|integrin binding|metalloendopeptidase activity|zinc ion binding central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(4) 36 OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05) GCTCGACCAAGGCCAGGACGT 0.657000 5 101 0.014758 0.014773 1 1 0 CXXC11 285093 broad.mit.edu 37 2 242814517 242814517 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:242814517C>T ENST00000343216.3 + 2 838 c.810C>T c.(808-810)ttC>ttT p.F270F NM_173821.2 NP_776182.2 Q14D33 CB085_HUMAN CXXC finger protein 11 270 integral to membrane ACCCCCTCTTCCACGGCCCCG 0.672000 58 108 0 0 1 0 0 C6 729 broad.mit.edu 37 5 41201788 41201788 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:41201788C>T ENST00000263413.3 - 3 436 c.172G>A c.(172-174)Gaa>Aaa p.E58K C6_ENST00000337836.5_Missense_Mutation_p.E58K NM_001115131.1 NP_001108603.2 P13671 CO6_HUMAN complement component 6 58 TSP type-1 1. complement activation, classical pathway|cytolysis|innate immune response membrane attack complex protein binding central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2) 96 Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157) CAAAAGTTTTCCTGGTAGTAC 0.408000 45 123 0 0 1 0 0 TMEM202 338949 broad.mit.edu 37 15 72699522 72699522 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr15:72699522C>T ENST00000341689.3 + 4 637 c.583C>T c.(583-585)Ctt>Ttt p.L195F TMEM202_ENST00000567679.1_Intron NM_001080462.1 NP_001073931.1 A6NGA9 TM202_HUMAN transmembrane protein 202 195 integral to membrane NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 18 GACCTATTATCTTAACTGGTG 0.488000 45 109 0 0 1 0 0 SH2D3A 10045 broad.mit.edu 37 19 6760924 6760924 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:6760924C>T ENST00000245908.6 - 3 413 c.144G>A c.(142-144)gtG>gtA p.V48V SH2D3A_ENST00000437152.3_Intron|SH2D3A_ENST00000599563.1_5'UTR NM_005490.2 NP_005481.2 Q9BRG2 SH23A_HUMAN SH2 domain containing 3A 48 SH2. JNK cascade|small GTPase mediated signal transduction intracellular guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|skin(3)|urinary_tract(1) 24 GGCAGGAGATCACGGGGTTGC 0.642000 20 54 0 0 1 0 0 CSMD3 114788 broad.mit.edu 37 8 113304903 113304903 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:113304903C>T ENST00000297405.5 - 55 8895 c.8651G>A c.(8650-8652)gGa>gAa p.G2884E CSMD3_ENST00000352409.3_Missense_Mutation_p.G2814E|CSMD3_ENST00000343508.3_Missense_Mutation_p.G2844E|CSMD3_ENST00000455883.2_Missense_Mutation_p.G2715E NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 2884 Sushi 19. integral to membrane|plasma membrane breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 ACTTGTTCTTCCATAAATTGG 0.413000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 23 60 0 0 1 0 0 MATR3 9782 broad.mit.edu 37 5 138643343 138643343 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:138643343C>T ENST00000394800.2 + 6 788 c.239C>T c.(238-240)tCc>tTc p.S80F MATR3_ENST00000361059.2_Missense_Mutation_p.S80F|MATR3_ENST00000502929.1_Missense_Mutation_p.S80F|MATR3_ENST00000394805.3_Missense_Mutation_p.S80F|MATR3_ENST00000502499.1_Intron|MATR3_ENST00000504203.1_Intron|MATR3_ENST00000503811.1_Intron|MATR3_ENST00000510056.1_Missense_Mutation_p.S80F|MATR3_ENST00000509990.1_Missense_Mutation_p.S80F P43243 MATR3_HUMAN matrin 3 80 nuclear inner membrane|nuclear matrix nucleotide binding|protein binding|RNA binding|structural molecule activity|zinc ion binding breast(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 29 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325) AGTACTTCTTCCCATAATTTG 0.433000 6 147 0 0 1 0 0 SMCHD1 23347 broad.mit.edu 37 18 2762184 2762184 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr18:2762184C>T ENST00000320876.6 + 36 4854 c.4516C>T c.(4516-4518)Cgc>Tgc p.R1506C RP11-703M24.5_ENST00000583546.1_RNA|SMCHD1_ENST00000261598.8_Missense_Mutation_p.R1506C NM_015295.2 NP_056110.2 A6NHR9 SMHD1_HUMAN structural maintenance of chromosomes flexible hinge domain containing 1 1506 chromosome organization ATP binding NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1) 45 TTCAAATGTTCGCTCAGTTGC 0.378000 61 77 0 0 1 0 0 ANO2 57101 broad.mit.edu 37 12 5860076 5860076 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:5860076G>A ENST00000327087.8 - 11 1175 c.1104C>T c.(1102-1104)ttC>ttT p.F368F ANO2_ENST00000546188.1_Silent_p.F369F|ANO2_ENST00000356134.5_Silent_p.F369F Q9NQ90 ANO2_HUMAN anoctamin 2 373 chloride channel complex|plasma membrane intracellular calcium activated chloride channel activity central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1) 58 ATGGGATGAGGAATGATGTAT 0.328000 13 21 0 0 1 0 0 CACNA1D 776 broad.mit.edu 37 3 53757543 53757543 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:53757543C>T ENST00000288139.3 + 14 1927 c.1809C>T c.(1807-1809)ttC>ttT p.F603F CACNA1D_ENST00000422281.2_Silent_p.F583F|CACNA1D_ENST00000350061.5_Silent_p.F583F NM_000720.2 NP_000711.1 Q01668 CAC1D_HUMAN calcium channel, voltage-dependent, L type, alpha 1D subunit 583 axon guidance|energy reserve metabolic process|regulation of insulin secretion voltage-gated calcium channel complex voltage-gated calcium channel activity breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 90 BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613) Verapamil(DB00661) AAGCATATTTCGTCTCTCTTT 0.488000 81 153 0 0 1 0 0 CCDC114 93233 broad.mit.edu 37 19 48801592 48801592 + Nonsense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:48801592G>A ENST00000315396.7 - 11 1817 c.1135C>T c.(1135-1137)Cag>Tag p.Q379* NM_144577.3 NP_653178.3 Q96M63 CC114_HUMAN coiled-coil domain containing 114 379 cervix(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1) 24 all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000162)|Epithelial(262;0.0134)|GBM - Glioblastoma multiforme(486;0.0143) AAGAGGAGCTGGATATCTGCG 0.612000 23 77 0 0 1 0 0 GCM1 8521 broad.mit.edu 37 6 52999096 52999096 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:52999096C>T ENST00000259803.7 - 3 313 c.102G>A c.(100-102)caG>caA p.Q34Q NM_003643.3 NP_003634.2 Q9NP62 GCM1_HUMAN glial cells missing homolog 1 (Drosophila) 34 transcription factor complex DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|skin(1) 24 Lung NSC(77;0.0755) CTGGCCACTCCTGGAACCAGT 0.488000 48 147 0 0 1 0 0 AR 367 broad.mit.edu 37 X 66931395 66931395 + Silent SNP A A G TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chrX:66931395A>G ENST00000374690.3 + 4 2561 c.2037A>G c.(2035-2037)gaA>gaG p.E679E AR_ENST00000396043.2_Silent_p.E147E|AR_ENST00000396044.3_Silent_p.E679E NM_000044.3 NP_000035.2 P10275 ANDR_HUMAN androgen receptor 678 Interaction with MYST2. cell death|cell growth|cell proliferation|cell-cell signaling|negative regulation of apoptosis|negative regulation of integrin biosynthetic process|positive regulation of cell proliferation|positive regulation of integrin biosynthetic process|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|regulation of establishment of protein localization in plasma membrane|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transport cytoplasm|nuclear chromatin|nucleoplasm androgen binding|androgen receptor activity|beta-catenin binding|enzyme binding|ligand-regulated transcription factor activity|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3) 67 all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102) all_lung(315;1.3e-11) Bicalutamide(DB01128)|Cyproterone(DB04839)|Dromostanolone(DB00858)|Finasteride(DB01216)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Nandrolone(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Testosterone(DB00624) ATGTCCTGGAAGCCATTGAGC 0.537000 Androgen Insensitivity Syndrome 16 6 0 0 1 0 0 GZMB 3002 broad.mit.edu 37 14 25101628 25101628 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr14:25101628C>T ENST00000216341.4 - 3 347 c.241G>A c.(241-243)Gaa>Aaa p.E81K RP11-104E19.1_ENST00000555300.1_RNA|GZMB_ENST00000382542.1_Missense_Mutation_p.E115K|RP11-104E19.1_ENST00000557736.1_RNA|GZMB_ENST00000526004.1_Intron|GZMB_ENST00000382540.1_Intron|GZMB_ENST00000415355.3_Missense_Mutation_p.E69K P10144 GRAB_HUMAN granzyme B (granzyme 2, cytotoxic T-lymphocyte-associated serine esterase 1) 81 Peptidase S1. activation of pro-apoptotic gene products|cleavage of lamin|cytolysis|induction of apoptosis by intracellular signals cytosol|immunological synapse|nucleus protein binding|serine-type endopeptidase activity endometrium(2)|large_intestine(1)|lung(4)|stomach(4)|urinary_tract(2) 13 GBM - Glioblastoma multiforme(265;0.028) GGCTCCTGTTCTTTGATATTG 0.517000 14 92 0 0 1 0 0 DRAXIN 374946 broad.mit.edu 37 1 11766464 11766464 + Nonsense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:11766464G>A ENST00000294485.5 + 2 284 c.149G>A c.(148-150)tGg>tAg p.W50* NM_198545.3 NP_940947.3 dorsal inhibitory axon guidance protein CCAGCGCTGTGGACGCCTCAG 0.726000 19 40 0 0 1 0 0 ATP2B3 492 broad.mit.edu 37 X 152815719 152815719 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chrX:152815719G>A ENST00000370186.1 + 10 2082 c.1756G>A c.(1756-1758)Ggg>Agg p.G586R ATP2B3_ENST00000370181.2_Missense_Mutation_p.G586R|ATP2B3_ENST00000263519.4_Missense_Mutation_p.G600R|ATP2B3_ENST00000349466.2_Missense_Mutation_p.G600R|ATP2B3_ENST00000393842.1_Missense_Mutation_p.G586R|ATP2B3_ENST00000359149.3_Missense_Mutation_p.G600R Q16720 AT2B3_HUMAN ATPase, Ca++ transporting, plasma membrane 3 600 ATP biosynthetic process|platelet activation integral to membrane|plasma membrane ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3) 50 all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) CTTCAGCAAGGGGGCCTCAGA 0.547000 10 76 0 0 1 0 0 PCDH8 5100 broad.mit.edu 37 13 53421040 53421040 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr13:53421040G>A ENST00000377942.3 - 1 1735 c.1532C>T c.(1531-1533)cCg>cTg p.P511L PCDH8_ENST00000338862.4_Missense_Mutation_p.P511L NM_002590.3 NP_002581.2 O95206 PCDH8_HUMAN protocadherin 8 511 Cadherin 5. cell-cell signaling|homophilic cell adhesion cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane calcium ion binding breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1) 36 Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173) GBM - Glioblastoma multiforme(99;2.19e-08) GGCGCCTGGCGGGTTGTTCTC 0.731000 4 15 0 0 1 0 0 SLC25A21 89874 broad.mit.edu 37 14 37149872 37149872 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr14:37149872C>T ENST00000331299.5 - 10 1406 c.891G>A c.(889-891)gaG>gaA p.E297E SLC25A21_ENST00000555449.1_Silent_p.E297E NM_030631.3 NP_085134.1 Q9BQT8 ODC_HUMAN solute carrier family 25 (mitochondrial oxoadipate carrier), member 21 297 lysine catabolic process integral to membrane|mitochondrial inner membrane alpha-ketoglutarate transmembrane transporter activity|binding NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|pancreas(1)|prostate(1)|skin(1) 9 Esophageal squamous(585;0.164)|Breast(36;0.179)|Hepatocellular(127;0.213) Lung(8;2.16e-08)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.0112)|all cancers(34;0.0274)|LUSC - Lung squamous cell carcinoma(13;0.149) GBM - Glioblastoma multiforme(112;0.00204) ATCACCAGTTCTCTTGAAGCC 0.413000 50 104 0 0 1 0 0 MORC1 27136 broad.mit.edu 37 3 108690227 108690227 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:108690227G>A ENST00000232603.5 - 25 2582 c.2500C>T c.(2500-2502)Cct>Tct p.P834S MORC1_ENST00000483760.1_Missense_Mutation_p.P813S NM_014429.3 NP_055244.3 Q86VD1 MORC1_HUMAN MORC family CW-type zinc finger 1 834 cell differentiation|multicellular organismal development|spermatogenesis nucleus ATP binding|zinc ion binding breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3) 105 TGATGCTCAGGAAAAAAATAC 0.403000 36 67 0 0 1 0 0 PLCB1 23236 broad.mit.edu 37 20 8862331 8862331 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr20:8862331G>A ENST00000338037.6 + 32 3513 c.3486G>A c.(3484-3486)ttG>ttA p.L1162L PLCB1_ENST00000378641.3_3'UTR NM_015192.2 NP_056007.1 Q9NQ66 PLCB1_HUMAN phospholipase C, beta 1 (phosphoinositide-specific) 1162 activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission cytosol|nuclear chromatin|nuclear speck calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4) 95 TCGAGATTTTGGAATTCGTGC 0.488000 105 192 0 0 1 0 0 PTENP1 11191 broad.mit.edu 37 9 33675852 33675852 + RNA SNP T T A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:33675852T>A ENST00000532280.1 - 0 1645 NR_023917.1 TTTTGTCCTTTTTTAGCATCT 0.383000 44 82 0 0 1 0 0 ACOXL 55289 broad.mit.edu 37 2 111562862 111562862 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:111562862G>A ENST00000389811.4 + 9 867 c.643G>A c.(643-645)Gga>Aga p.G215R ACOXL_ENST00000439055.1_Missense_Mutation_p.G215R|ACOXL_ENST00000340561.4_Missense_Mutation_p.G215R Q9NUZ1 ACOXL_HUMAN acyl-CoA oxidase-like 215 fatty acid beta-oxidation peroxisome acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(1) 21 GGCTCCAGATGGACAGTACCA 0.507000 54 130 0 0 1 0 0 PRPF3 9129 broad.mit.edu 37 1 150300881 150300881 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:150300881C>T ENST00000324862.6 + 4 544 c.379C>T c.(379-381)Cct>Tct p.P127S PRPF3_ENST00000543398.1_5'UTR|PRPF3_ENST00000414970.2_Intron|PRPF3_ENST00000467329.1_3'UTR NM_004698.2 NP_004689.1 O43395 PRPF3_HUMAN pre-mRNA processing factor 3 127 nuclear mRNA splicing, via spliceosome Cajal body|cytoplasm|nuclear speck|spliceosomal complex protein binding breast(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 Lung NSC(24;5.57e-29)|Breast(34;0.000844)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.171) Colorectal(1306;0.0149) AGAGGTGATCCCTGGGCCTCC 0.488000 115 160 0 0 1 0 0 THAP4 51078 broad.mit.edu 37 2 242524138 242524138 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:242524138G>A ENST00000407315.1 - 6 2048 c.1617C>T c.(1615-1617)atC>atT p.I539I THAP4_ENST00000402545.1_Silent_p.I154I|THAP4_ENST00000402136.1_Silent_p.I127I NM_015963.5 NP_057047.4 Q8WY91 THAP4_HUMAN THAP domain containing 4 539 DNA binding|metal ion binding kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1) 9 all_cancers(19;2.09e-34)|all_epithelial(40;2.09e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Ovarian(221;0.069)|Lung NSC(271;0.0886)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.2) Epithelial(32;2.3e-33)|all cancers(36;8.99e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.68e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0844) ACTTCCGGGTGATCTGAGCAG 0.488000 113 229 0 0 1 0 0 SLC39A12 221074 broad.mit.edu 37 10 18266945 18266945 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:18266945C>T ENST00000377369.2 + 5 1139 c.866C>T c.(865-867)tCt>tTt p.S289F SLC39A12_ENST00000377371.3_Missense_Mutation_p.S289F|SLC39A12_ENST00000377374.4_Missense_Mutation_p.S289F|SLC39A12_ENST00000539911.1_Missense_Mutation_p.S155F NM_001145195.1 NP_001138667.1 Q504Y0 S39AC_HUMAN solute carrier family 39 (zinc transporter), member 12 289 zinc ion transport integral to membrane metal ion transmembrane transporter activity NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 60 CAGGACTATTCTAATTTCTCT 0.373000 5 167 0 0 1 0 0 NME8 51314 broad.mit.edu 37 7 37924012 37924012 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:37924012G>A ENST00000199447.4 + 13 1474 c.1102G>A c.(1102-1104)Gaa>Aaa p.E368K NME8_ENST00000440017.1_Missense_Mutation_p.E368K|EPDR1_ENST00000476620.1_Intron NM_016616.4 NP_057700.3 Q8N427 TXND3_HUMAN NME/NM23 family member 8 368 NDK 2. cell differentiation|cell redox homeostasis|CTP biosynthetic process|GTP biosynthetic process|multicellular organismal development|spermatogenesis|UTP biosynthetic process cytoplasm|microtubule cytoskeleton ATP binding|nucleoside diphosphate kinase activity ATATGAAAATGAAGACTATTT 0.303000 24 55 0 0 1 0 0 COL11A2 1302 broad.mit.edu 37 6 33133587 33133587 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:33133587G>A ENST00000341947.2 - 63 4716 c.4489C>T c.(4489-4491)Cca>Tca p.P1497S COL11A2_ENST00000361917.1_Missense_Mutation_p.P1390S|COL11A2_ENST00000374714.1_Missense_Mutation_p.P1471S|COL11A2_ENST00000477772.1_5'UTR|COL11A2_ENST00000374712.1_Missense_Mutation_p.P1416S|COL11A2_ENST00000374713.1_Missense_Mutation_p.P1450S|COL11A2_ENST00000395197.1_Missense_Mutation_p.P1437S|COL11A2_ENST00000357486.1_Missense_Mutation_p.P1476S|COL11A2_ENST00000374708.4_Missense_Mutation_p.P1411S NM_080680.2 NP_542411.2 P13942 COBA2_HUMAN collagen, type XI, alpha 2 1497 Triple-helical region. cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development collagen type XI extracellular matrix structural constituent conferring tensile strength|protein binding, bridging biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6) 68 ACCTCGCCTGGGGGACCCTGG 0.622000 40 141 0 0 1 0 0 TNNI3K 51086 broad.mit.edu 37 1 74957800 74957800 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:74957800G>A ENST00000370891.2 + 25 2520 c.2504G>A c.(2503-2505)aGt>aAt p.S835N TNNI3K_ENST00000326637.3_Missense_Mutation_p.S734N|LRRC53_ENST00000294635.4_Intron|FPGT-TNNI3K_ENST00000557284.1_Missense_Mutation_p.S835N NM_001112808.2 NP_001106279.1 TNNI3 interacting kinase cervix(1)|endometrium(3)|kidney(5)|large_intestine(21)|lung(31)|ovary(4)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3) 76 CCTGCATCAAGTAACAGCAGT 0.453000 102 200 0 0 1 0 0 OR51F2 119694 broad.mit.edu 37 11 4842778 4842778 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:4842778G>A ENST00000322110.5 + 1 228 c.163G>A c.(163-165)Gga>Aga p.G55R MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron NM_001004753.1 NP_001004753.1 Q8NH61 O51F2_HUMAN olfactory receptor, family 51, subfamily F, member 2 55 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|endometrium(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2) 33 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778) Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19) TGCCGTCTCTGGAAATAGCAT 0.493000 124 125 0 0 1 0 0 TNNC2 7125 broad.mit.edu 37 20 44453173 44453173 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr20:44453173C>T ENST00000372557.1 - 4 322 c.115G>A c.(115-117)Gag>Aag p.E39K TNNC2_ENST00000372555.3_Missense_Mutation_p.E54K P02585 TNNC2_HUMAN troponin C type 2 (fast) 54 EF-hand 1. muscle filament sliding|regulation of muscle contraction|skeletal muscle contraction cytosol|troponin complex calcium ion binding endometrium(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1) 5 Myeloproliferative disorder(115;0.0122) TCCAGCTCCTCCTTGGTGGGT 0.632000 48 99 0 0 1 0 0 SRRM1 10250 broad.mit.edu 37 1 24981429 24981429 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:24981429C>T ENST00000323848.9 + 9 1439 c.1124C>T c.(1123-1125)cCc>cTc p.P375L SRRM1_ENST00000479034.1_3'UTR|SRRM1_ENST00000374389.4_Missense_Mutation_p.P370L|SRRM1_ENST00000537199.1_Missense_Mutation_p.257_257insS|SRRM1_ENST00000447431.2_Missense_Mutation_p.P375L NM_005839.3 NP_005830.2 Q8IYB3 SRRM1_HUMAN serine/arginine repetitive matrix 1 375 Arg-rich.|Necessary for speckles and matrix localization.|Pro-rich.|Ser-rich. mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription catalytic step 2 spliceosome|cytosol|nuclear matrix|nuclear speck DNA binding|protein binding|RNA binding breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2) 36 Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19) UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;1.01e-24)|Colorectal(126;5.95e-08)|COAD - Colon adenocarcinoma(152;3.24e-06)|GBM - Glioblastoma multiforme(114;0.000148)|BRCA - Breast invasive adenocarcinoma(304;0.00177)|KIRC - Kidney renal clear cell carcinoma(1967;0.00348)|STAD - Stomach adenocarcinoma(196;0.00483)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138) AAGAAGCCTCCCAAGAGGACA 0.522000 53 101 0 0 1 0 0 CRIM1 51232 broad.mit.edu 37 2 36704088 36704088 + Nonsense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:36704088C>T ENST00000280527.2 + 6 1415 c.1048C>T c.(1048-1050)Cga>Tga p.R350* NM_016441.2 NP_057525.1 Q9NZV1 CRIM1_HUMAN cysteine rich transmembrane BMP regulator 1 (chordin-like) 350 VWFC 1. nervous system development|regulation of cell growth extracellular region|integral to membrane|plasma membrane insulin-like growth factor binding|insulin-like growth factor receptor activity|serine-type endopeptidase inhibitor activity autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(15)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 45 all_hematologic(82;0.131)|Acute lymphoblastic leukemia(82;0.154) AGACATGTTTCGAATGGACAA 0.448000 66 137 0 0 1 0 0 TPRG1 285386 broad.mit.edu 37 3 188956522 188956522 + Splice_Site SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:188956522G>A ENST00000345063.3 + 4 470 c.302_splice c.e4-1 p.K101_splice TPRG1-AS2_ENST00000425454.1_RNA|TPRG1_ENST00000433971.1_Splice_Site_p.K101_splice NM_198485.3 NP_940887.1 Q6ZUI0 TPRG1_HUMAN tumor protein p63 regulated 1 101 endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|skin(2)|urinary_tract(1) 16 all_cancers(143;6.12e-12)|all_hematologic(3;0.0359)|Ovarian(172;0.0925) all_lung(153;8.23e-09)|Lung NSC(153;3.55e-06)|all_neural(597;0.0019)|Myeloproliferative disorder(1037;0.0255) Lung(62;6.93e-06) GBM - Glioblastoma multiforme(93;4.77e-14) ATTCCTATAGGATAGACCACT 0.398000 38 77 0 0 1 0 0 GTSF1 121355 broad.mit.edu 37 12 54855949 54855949 + Nonsense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:54855949C>T ENST00000552397.1 - 6 1232 c.336G>A c.(334-336)tgG>tgA p.W112* GTSF1_ENST00000305879.5_Nonsense_Mutation_p.W112*|GTSF1_ENST00000552395.1_5'UTR|RP11-753H16.3_ENST00000550474.1_RNA|RP11-753H16.5_ENST00000552785.1_RNA Q8WW33 GTSF1_HUMAN gametocyte specific factor 1 112 metal ion binding central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1) 5 Myeloproliferative disorder(1001;0.00452) TGGTCTGCTCCCACAAATCTG 0.408000 21 54 0 0 1 0 0 TRRAP 8295 broad.mit.edu 37 7 98509803 98509803 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:98509803C>T ENST00000359863.4 + 18 2375 c.2166C>T c.(2164-2166)tcC>tcT p.S722S TRRAP_ENST00000355540.3_Silent_p.S722S|TRRAP_ENST00000446306.3_Silent_p.S721S NM_001244580.1 NP_001231509.1 Q9Y4A5 TRRAP_HUMAN transformation/transcription domain-associated protein 722 histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2) 176 all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274) STAD - Stomach adenocarcinoma(171;0.215) GCTCTGTCTCCCTCTTTGCAG 0.458000 41 181 0 0 1 0 0 DENND1C 79958 broad.mit.edu 37 19 6479061 6479061 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:6479061G>A ENST00000381480.2 - 5 295 c.183C>T c.(181-183)ccC>ccT p.P61P DENND1C_ENST00000591030.1_5'UTR|DENND1C_ENST00000543576.1_Silent_p.P17P NM_024898.2 NP_079174.2 Q8IV53 DEN1C_HUMAN DENN/MADD domain containing 1C 61 UDENN. clathrin-coated vesicle|cytosol guanyl-nucleotide exchange factor activity endometrium(3)|kidney(3)|large_intestine(1)|lung(3) 10 CGGGGCTGGGGGGCTCCCTGG 0.627000 42 68 0 0 1 0 0 DUS3L 56931 broad.mit.edu 37 19 5787325 5787325 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:5787325G>A ENST00000309061.7 - 7 1356 c.1260C>T c.(1258-1260)atC>atT p.I420I DUS3L_ENST00000320699.8_Silent_p.I178I NM_020175.2 NP_064560.2 Q96G46 DUS3L_HUMAN dihydrouridine synthase 3-like (S. cerevisiae) 420 tRNA processing flavin adenine dinucleotide binding|nucleic acid binding|tRNA dihydrouridine synthase activity|zinc ion binding endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(2) 14 TGCCACGGACGATCTGCTGGA 0.657000 15 31 0 0 1 0 0 PCSK6 5046 broad.mit.edu 37 15 101929689 101929689 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr15:101929689G>A ENST00000348070.1 - 10 1286 c.1287C>T c.(1285-1287)atC>atT p.I429I PCSK6_ENST00000398181.2_Silent_p.I429I|PCSK6_ENST00000344273.2_Silent_p.I429I|PCSK6_ENST00000358417.3_Silent_p.I429I|PCSK6_ENST00000561177.1_5'UTR|PCSK6_ENST00000331826.7_Silent_p.I264I NM_002570.3|NM_138320.1 NP_002561.1|NP_612193.1 P29122 PCSK6_HUMAN proprotein convertase subtilisin/kexin type 6 430 Catalytic. glycoprotein metabolic process|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|regulation of BMP signaling pathway|secretion by cell cell surface|endomembrane system|endoplasmic reticulum|extracellular matrix|extracellular space|Golgi lumen|membrane|soluble fraction eukaryotic cell surface binding|heparin binding|nerve growth factor binding|serine-type endopeptidase activity breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505) OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23) GAGCCAAGGCGATGATGCCCG 0.488000 30 96 0 0 1 0 0 LRP1B 53353 broad.mit.edu 37 2 141214161 141214161 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:141214161G>A ENST00000389484.3 - 62 10797 c.9826C>T c.(9826-9828)Ctc>Ttc p.L3276F NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 3276 protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) ATCATGCAGAGATGTTTGGAG 0.383000 TSP Lung(27;0.18) 48 66 0 0 1 0 0 FLG 2312 broad.mit.edu 37 1 152275729 152275729 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:152275729C>T ENST00000368799.1 - 3 11668 c.11633G>A c.(11632-11634)aGg>aAg p.R3878K FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 3878 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CTCAGATCGCCTCTCAGAGTC 0.587000 Ichthyosis 21 349 0 0 1 0 0 IGHV1-69 28461 broad.mit.edu 37 14 107170347 107170347 + RNA SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr14:107170347G>A ENST00000390633.2 - 0 81 CCACAAAGAGGAACCTCCAGG 0.507000 39 81 0 0 1 0 0 C12orf54 121273 broad.mit.edu 37 12 48877104 48877104 + Nonsense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:48877104C>T ENST00000314014.2 + 2 156 c.25C>T c.(25-27)Cag>Tag p.Q9* RP11-722P11.4_ENST00000551847.1_RNA|C12orf54_ENST00000548364.1_Nonsense_Mutation_p.Q9* NM_152319.3 NP_689532.1 Q6X4T0 CL054_HUMAN chromosome 12 open reading frame 54 9 endometrium(1)|large_intestine(4) 5 CTGCCAGGATCAGGAACAAAA 0.473000 16 47 0 0 1 0 0 PRPF8 10594 broad.mit.edu 37 17 1579847 1579847 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:1579847G>A ENST00000572621.1 - 15 2605 c.2340C>T c.(2338-2340)acC>acT p.T780T PRPF8_ENST00000304992.6_Silent_p.T780T Q6P2Q9 PRP8_HUMAN pre-mRNA processing factor 8 780 catalytic step 2 spliceosome|nuclear speck|U5 snRNP protein binding|RNA binding NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3) 77 UCEC - Uterine corpus endometrioid carcinoma (25;0.0855) GATAGAGCCGGGTGAGGCGGC 0.592000 151 344 0 0 1 0 0 ARL14 80117 broad.mit.edu 37 3 160395193 160395193 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:160395193G>A ENST00000320767.2 + 1 246 c.59G>A c.(58-60)gGa>gAa p.G20E NM_025047.2 NP_079323.1 Q8N4G2 ARL14_HUMAN ADP-ribosylation factor-like 14 20 small GTPase mediated signal transduction intracellular GTP binding lung(6) 6 Lung(72;7.02e-05)|LUSC - Lung squamous cell carcinoma(72;7.23e-05) CTTCTTTTGGGACTTGACTCA 0.393000 5 88 0 0 1 0 0 USP49 25862 broad.mit.edu 37 6 41773627 41773627 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:41773627G>A ENST00000394253.3 - 3 1424 c.1095C>T c.(1093-1095)ttC>ttT p.F365F USP49_ENST00000297229.2_Silent_p.F365F|USP49_ENST00000373010.1_Silent_p.F365F|USP49_ENST00000373006.1_Silent_p.F365F|USP49_ENST00000373009.3_Silent_p.F365F Q70CQ1 UBP49_HUMAN ubiquitin specific peptidase 49 365 ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(2)|skin(2) 23 Ovarian(28;0.0919)|Colorectal(47;0.121) STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000309)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152) ACATGACTCGGAAGAGGGTGT 0.602000 7 160 0 0 1 0 0 TRIM54 57159 broad.mit.edu 37 2 27505636 27505636 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:27505636G>A ENST00000296098.4 + 1 307 c.37G>A c.(37-39)Gat>Aat p.D13N TRIM54_ENST00000380075.2_Missense_Mutation_p.D13N NM_032546.3 NP_115935.3 Q9BYV2 TRI54_HUMAN tripartite motif containing 54 13 cell differentiation|microtubule-based process|multicellular organismal development|negative regulation of microtubule depolymerization microtubule|sarcomere signal transducer activity|zinc ion binding cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 13 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GCTGCTAGGGGATGCACACAG 0.592000 118 207 0 0 1 0 0 GPR65 8477 broad.mit.edu 37 14 88478104 88478104 + Missense_Mutation SNP T T A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr14:88478104T>A ENST00000267549.3 + 2 1471 c.913T>A c.(913-915)Tta>Ata p.L305I RP11-300J18.2_ENST00000554433.1_RNA NM_003608.3 NP_003599.2 Q8IYL9 PSYR_HUMAN G protein-coupled receptor 65 305 actin cytoskeleton reorganization|activation of Rho GTPase activity|apoptosis|immune response|multicellular organismal development|positive regulation of cAMP biosynthetic process|positive regulation of stress fiber assembly|response to acidity integral to plasma membrane G-protein coupled receptor activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|prostate(1) 16 GTGGAATATATTAAAATTCTG 0.343000 23 63 0 0 1 0 0 CALCR 799 broad.mit.edu 37 7 93108781 93108781 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:93108781G>A ENST00000359558.2 - 5 443 c.144C>T c.(142-144)acC>acT p.T48T CALCR_ENST00000394441.1_Silent_p.T30T|CALCR_ENST00000421592.1_Silent_p.T30T|CALCR_ENST00000360249.4_Silent_p.T30T|CALCR_ENST00000426151.1_Silent_p.T30T NM_001164737.1 NP_001158209.1 P30988 CALCR_HUMAN calcitonin receptor 30 activation of adenylate cyclase activity by G-protein signaling pathway|elevation of cytosolic calcium ion concentration|positive regulation of adenylate cyclase activity|response to glucocorticoid stimulus integral to plasma membrane calcitonin binding|calcitonin receptor activity|protein binding NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(3) 45 all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207) STAD - Stomach adenocarcinoma(171;0.000244) Salmon Calcitonin(DB00017) TTGTTGGATAGGTTTGATTTG 0.413000 72 231 0 0 1 0 0 KMT2C 58508 broad.mit.edu 37 7 151949088 151949088 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:151949088G>A ENST00000355193.2 - 11 1775 c.1557C>T c.(1555-1557)caC>caT p.H519H KMT2C_ENST00000262189.6_Silent_p.H519H lysine (K)-specific methyltransferase 2C CAGCTCCCAGGTGTTTACAAT 0.403000 27 79 0 0 1 0 0 NOBOX 135935 broad.mit.edu 37 7 144096152 144096152 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:144096152G>A ENST00000467773.1 - 8 1359 c.1360C>T c.(1360-1362)Cct>Tct p.P454S NOBOX_ENST00000223140.5_Missense_Mutation_p.P337S|NOBOX_ENST00000483238.1_Missense_Mutation_p.P422S NM_001080413.3 NP_001073882.3 O60393 NOBOX_HUMAN NOBOX oogenesis homeobox 454 Pro-rich. cell differentiation|oogenesis nucleus sequence-specific DNA binding NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1) 26 Melanoma(164;0.14) AGGGGGAAAGGAAGATCGGCC 0.637000 18 21 0 0 1 0 0 ATP7B 540 broad.mit.edu 37 13 52531657 52531657 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr13:52531657G>A ENST00000242839.4 - 9 2598 c.2442C>T c.(2440-2442)atC>atT p.I814I ATP7B_ENST00000417240.2_Silent_p.I86I|ATP7B_ENST00000448424.2_Silent_p.I736I|ATP7B_ENST00000344297.5_Silent_p.I652I|ATP7B_ENST00000482841.1_5'UTR|ATP7B_ENST00000400366.3_Silent_p.I703I|ATP7B_ENST00000418097.2_Silent_p.I814I|ATP7B_ENST00000400370.3_Intron NM_000053.3 NP_000044.2 P35670 ATP7B_HUMAN ATPase, Cu++ transporting, beta polypeptide 814 ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion Golgi membrane|integral to plasma membrane|late endosome|mitochondrion ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2) 55 Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19) GBM - Glioblastoma multiforme(99;5.25e-08) CTCACCTGATGATTAAATTGT 0.438000 Wilson disease 41 94 0 0 1 0 0 SLAMF8 56833 broad.mit.edu 37 1 159802838 159802838 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:159802838C>T ENST00000289707.5 + 3 689 c.540C>T c.(538-540)ttC>ttT p.F180F SLAMF8_ENST00000368104.4_Silent_p.F71F|SLAMF8_ENST00000471286.1_3'UTR NM_020125.2 NP_064510.1 Q9P0V8 SLAF8_HUMAN SLAM family member 8 180 Ig-like C2-type. integral to membrane endometrium(2)|large_intestine(4)|lung(6) 12 all_hematologic(112;0.0597) ACAGCCTCTTCACAGACGGAC 0.542000 81 110 0 0 1 0 0 SLC24A3 57419 broad.mit.edu 37 20 19261725 19261725 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr20:19261725G>A ENST00000328041.6 + 2 462 c.265G>A c.(265-267)Gaa>Aaa p.E89K RP5-1027G4.3_ENST00000319682.2_RNA NM_020689.3 NP_065740.2 Q9HC58 NCKX3_HUMAN solute carrier family 24 (sodium/potassium/calcium exchanger), member 3 89 integral to membrane|plasma membrane calcium, potassium:sodium antiporter activity|symporter activity breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 GAACTGCACCGAACCAGGTAA 0.507000 32 52 0 0 1 0 0 SMARCA1 6594 broad.mit.edu 37 X 128624036 128624036 + Splice_Site SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chrX:128624036C>T ENST00000371122.4 - 15 2078 c.e15+1 SMARCA1_ENST00000371121.3_Splice_Site|SMARCA1_ENST00000371123.1_Splice_Site NM_003069.3 NP_003060.2 P28370 SMCA1_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1 ATP-dependent chromatin remodeling|brain development|neuron differentiation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent NURF complex ATP binding|DNA binding|helicase activity|nucleosome binding|protein binding biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(13)|ovary(5)|prostate(1)|skin(1) 45 TGTATAAATACCTTGTTGTAT 0.313000 29 17 0 0 1 0 0 ZNF391 346157 broad.mit.edu 37 6 27368744 27368744 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:27368744G>A ENST00000244576.4 + 3 1140 c.595G>A c.(595-597)Gga>Aga p.G199R NM_001076781.1 NP_001070249.1 Q9UJN7 ZN391_HUMAN zinc finger protein 391 199 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|large_intestine(6)|lung(7)|pancreas(2)|skin(3)|upper_aerodigestive_tract(1) 21 TAGTGAATGTGGAAAAGCCTT 0.413000 62 75 0 0 1 0 0 NBAS 51594 broad.mit.edu 37 2 15307268 15307268 + Missense_Mutation SNP T T A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:15307268T>A ENST00000281513.5 - 52 7045 c.7020A>T c.(7018-7020)gaA>gaT p.E2340D NBAS_ENST00000441750.1_Missense_Mutation_p.E2220D NM_015909.3 NP_056993.2 A2RRP1 NBAS_HUMAN neuroblastoma amplified sequence 2340 NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3) 112 CGGCTTCGGCTTCATGGCCGG 0.637000 38 51 0 0 1 0 0 CHST6 4166 broad.mit.edu 37 16 75513136 75513136 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr16:75513136G>A ENST00000332272.4 - 3 770 c.591C>T c.(589-591)atC>atT p.I197I CHST6_ENST00000390664.2_Silent_p.I197I|RP11-77K12.4_ENST00000530512.3_RNA NM_021615.4 NP_067628.1 Q9GZX3 CHST6_HUMAN carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 6 197 keratan sulfate biosynthetic process|N-acetylglucosamine metabolic process Golgi membrane|integral to membrane N-acetylglucosamine 6-O-sulfotransferase activity central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 CCAGGTGCACGATGCGTAGGT 0.682000 10 59 0 0 1 0 0 HOXB13 10481 broad.mit.edu 37 17 46805887 46805887 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:46805887C>T ENST00000290295.7 - 1 653 c.69G>A c.(67-69)ggG>ggA p.G23G NM_006361.5 NP_006352.2 Q92826 HXB13_HUMAN homeobox B13 23 angiogenesis|epidermis development|response to wounding sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(2)|kidney(2)|lung(6)|prostate(1) 11 GATTCCGCCCCCCTCCCGCTC 0.657000 25 50 0 0 1 0 0 PCLO 27445 broad.mit.edu 37 7 82545171 82545171 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:82545171C>T ENST00000423517.2 - 7 12468 c.12131G>A c.(12130-12132)cGa>cAa p.R4044Q PCLO_ENST00000333891.8_Missense_Mutation_p.R4044Q|PCLO_ENST00000437081.1_Missense_Mutation_p.R764Q NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 3975 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity p.R4044Q(2) breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 GACATAATTTCGTGGAGTATG 0.408000 37 96 0 0 1 0 0 ERMARD 55780 broad.mit.edu 37 6 170176567 170176567 + Missense_Mutation SNP C C T rs141044415 TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:170176567C>T ENST00000588451.1 + 15 1642 c.1129C>T c.(1129-1131)Cgt>Tgt p.R377C C6orf70_ENST00000392095.4_Missense_Mutation_p.R387C|C6orf70_ENST00000366772.2_Intron|C6orf70_ENST00000418781.3_Intron|C6orf70_ENST00000366773.3_Missense_Mutation_p.R513C Q5T6L9 CF070_HUMAN 513 integral to membrane breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(1) 20 Breast(66;5.08e-05)|Ovarian(120;0.208) OV - Ovarian serous cystadenocarcinoma(33;1.2e-22)|BRCA - Breast invasive adenocarcinoma(81;1.49e-07)|GBM - Glioblastoma multiforme(31;0.00191) CCAGCTTCTCCGTGAGCTCTG 0.602000 21 27 0 0 1 0 0 CRLS1 54675 broad.mit.edu 37 20 6015147 6015147 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr20:6015147C>T ENST00000378863.4 + 6 924 c.767C>T c.(766-768)tCt>tTt p.S256F CRLS1_ENST00000452938.1_3'UTR|CRLS1_ENST00000464921.1_3'UTR|CRLS1_ENST00000378868.3_Missense_Mutation_p.S157F NM_019095.4 NP_061968.1 Q9UJA2 CRLS1_HUMAN cardiolipin synthase 1 256 phospholipid biosynthetic process integral to membrane|mitochondrial inner membrane phosphotransferase activity, for other substituted phosphate groups lung(3)|ovary(1) 4 GTGGCAGCTTCTTTGGCAGCT 0.363000 45 86 0 0 1 0 0 NDN 4692 broad.mit.edu 37 15 23931505 23931505 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr15:23931505G>A ENST00000331837.4 - 1 945 c.860C>T c.(859-861)cCc>cTc p.P287L NM_002487.2 NP_002478.1 Q99608 NECD_HUMAN necdin, melanoma antigen (MAGE) family member 287 MAGE. negative regulation of cell proliferation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus|perikaryon DNA binding breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|skin(1) 39 all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14) all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153) CCAGGCCTGGGGGTCTTTCTT 0.602000 Prader-Willi syndrome 5 67 0 0 1 0 0 SYNE2 23224 broad.mit.edu 37 14 64469845 64469845 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr14:64469845C>T ENST00000358025.3 + 30 4424 c.4194C>T c.(4192-4194)tcC>tcT p.S1398S SYNE2_ENST00000344113.4_Silent_p.S1398S|SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000554584.1_Silent_p.S1398S NM_182914.2 NP_878918.2 Q8WXH0 SYNE2_HUMAN spectrin repeat containing, nuclear envelope 2 1398 centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc actin binding|protein binding NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4) 224 all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681) ATGACACCTCCTGTGAAAACC 0.398000 6 100 0 0 1 0 0 CPO 130749 broad.mit.edu 37 2 207834013 207834013 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:207834013C>T ENST00000272852.3 + 9 1024 c.978C>T c.(976-978)atC>atT p.I326I NM_173077.2 NP_775100.1 Q8IVL8 CBPO_HUMAN carboxypeptidase O 326 proteolysis extracellular region metallocarboxypeptidase activity|zinc ion binding endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1) 14 LUSC - Lung squamous cell carcinoma(261;0.0744)|Epithelial(149;0.0807)|Lung(261;0.142) AAGCTCAGATCCAGCCCACCT 0.527000 29 43 0 0 1 0 0 INHBC 3626 broad.mit.edu 37 12 57843474 57843474 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:57843474G>A ENST00000309668.2 + 2 855 c.728G>A c.(727-729)gGg>gAg p.G243E INHBC_ENST00000550133.1_Intron NM_005538.2 NP_005529.1 P55103 INHBC_HUMAN inhibin, beta C 243 growth extracellular region growth factor activity|hormone activity|transforming growth factor beta receptor binding breast(2)|endometrium(1)|large_intestine(6)|liver(2)|lung(4)|prostate(1) 16 TGCCAAGGAGGGTCCAGGATG 0.577000 28 68 0 0 1 0 0 ALPK2 115701 broad.mit.edu 37 18 56205362 56205362 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr18:56205362G>A ENST00000361673.3 - 5 2270 c.2057C>T c.(2056-2058)aCc>aTc p.T686I RP11-1151B14.4_ENST00000591360.1_RNA NM_052947.3 NP_443179.3 Q86TB3 ALPK2_HUMAN alpha-kinase 2 686 ATP binding|protein serine/threonine kinase activity NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2) 84 AATTGTTGTGGTCCCAGTGAA 0.502000 28 56 0 0 1 0 0 DNAH9 1770 broad.mit.edu 37 17 11666774 11666774 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:11666774C>T ENST00000262442.3 + 36 7081 c.7013C>T c.(7012-7014)cCc>cTc p.P2338L DNAH9_ENST00000454412.2_Missense_Mutation_p.P2338L NM_001372.3 NP_001363.2 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 2338 cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4) 290 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) AAGATCATTCCCATCCCAGAG 0.498000 41 108 0 0 1 0 0 AFAP1 60312 broad.mit.edu 37 4 7787922 7787922 + Splice_Site SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:7787922G>A ENST00000420658.1 - 12 1801 c.1530_splice c.e12+1 p.S510_splice AFAP1_ENST00000358461.2_Splice_Site_p.S510_splice|AFAP1_ENST00000513842.1_5'UTR|AFAP1_ENST00000382543.3_Splice_Site_p.S510_splice|AFAP1_ENST00000360265.4_Splice_Site_p.S510_splice NM_001134647.1 NP_001128119.1 Q8N556 AFAP1_HUMAN actin filament associated protein 1 510 actin cytoskeleton|cytoplasm|focal adhesion actin binding NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(4)|stomach(2) 32 GGCACTCACCGAGCCGTTGAT 0.512000 40 81 0 0 1 0 0 CD163 9332 broad.mit.edu 37 12 7637937 7637937 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:7637937C>T ENST00000359156.4 - 11 2736 c.2534G>A c.(2533-2535)gGa>gAa p.G845E CD163_ENST00000432237.2_Missense_Mutation_p.G845E|CD163_ENST00000396620.3_Missense_Mutation_p.G878E|CD163_ENST00000539632.1_5'UTR|CD163_ENST00000541972.1_Missense_Mutation_p.G833E NM_004244.5 NP_004235.4 Q86VB7 C163A_HUMAN CD163 molecule 845 SRCR 8. acute-phase response extracellular region|integral to plasma membrane protein binding|scavenger receptor activity breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4) 76 GCCCCAAGCTCCATTGTAAAA 0.512000 46 127 0 0 1 0 0 RPAP3 79657 broad.mit.edu 37 12 48057353 48057353 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:48057353G>A ENST00000005386.3 - 17 2048 c.1933C>T c.(1933-1935)Cac>Tac p.H645Y RPAP3_ENST00000432584.3_Missense_Mutation_p.H486Y|RPAP3_ENST00000380650.4_Missense_Mutation_p.H611Y|RPAP3_ENST00000548211.1_5'UTR NM_024604.2 NP_078880.2 Q9H6T3 RPAP3_HUMAN RNA polymerase II associated protein 3 645 binding endometrium(2)|large_intestine(4)|liver(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 16 Lung SC(27;0.192) TTGTCTATGTGATTAAATAAT 0.299000 24 49 0 0 1 0 0 LPCAT4 254531 broad.mit.edu 37 15 34656262 34656262 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr15:34656262G>A ENST00000314891.6 - 5 781 c.604C>T c.(604-606)Cct>Tct p.P202S NM_153613.2 NP_705841.2 Q643R3 LPCT4_HUMAN lysophosphatidylcholine acyltransferase 4 202 phospholipid biosynthetic process endoplasmic reticulum membrane|integral to membrane acyltransferase activity|calcium ion binding NS(1)|breast(1)|large_intestine(2)|lung(5)|prostate(1) 10 GTGCCCTCAGGAAAGAATAGC 0.458000 12 234 0 0 1 0 0 DYSF 8291 broad.mit.edu 37 2 71886031 71886031 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:71886031C>T ENST00000258104.3 + 43 4939 c.4662C>T c.(4660-4662)ctC>ctT p.L1554L DYSF_ENST00000409651.1_Silent_p.L1586L|DYSF_ENST00000479049.2_3'UTR|DYSF_ENST00000410041.1_Silent_p.L1572L|DYSF_ENST00000394120.2_Silent_p.L1555L|DYSF_ENST00000429174.2_Silent_p.L1575L|DYSF_ENST00000409366.1_Silent_p.L1576L|DYSF_ENST00000409744.1_Silent_p.L1562L|DYSF_ENST00000409582.3_Silent_p.L1592L|DYSF_ENST00000409762.1_Silent_p.L1571L|DYSF_ENST00000413539.2_Silent_p.L1585L|DYSF_ENST00000410020.3_Silent_p.L1593L NM_001130976.1|NM_003494.3 NP_001124448.1|NP_003485.1 O75923 DYSF_HUMAN dysferlin 1554 cytoplasmic vesicle membrane|integral to membrane|sarcolemma calcium-dependent phospholipid binding autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2) 111 TTTATCCCCTCCCAGAAGACC 0.507000 60 122 0 0 1 0 0 CHRD 8646 broad.mit.edu 37 3 184102390 184102390 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:184102390C>T ENST00000204604.1 + 13 1752 c.1506C>T c.(1504-1506)ttC>ttT p.F502F CHRD_ENST00000450923.1_Silent_p.F502F|EIF2B5_ENST00000444495.1_Intron|CHRD_ENST00000545352.1_Silent_p.F132F|CHRD_ENST00000348986.3_Silent_p.F462F NM_003741.2 NP_003732.2 Q9H2X0 CHRD_HUMAN chordin 502 CHRD 3. BMP signaling pathway involved in spinal cord dorsal/ventral patterning|floor plate development|negative regulation of BMP signaling pathway|negative regulation of cell migration|positive regulation of cell adhesion|skeletal system development extracellular space cytokine binding NS(1)|biliary_tract(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(23)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 48 all_cancers(143;6.33e-11)|Ovarian(172;0.0339) Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) ATGAGCTCTTCCTGAACGTGG 0.647000 18 182 0 0 1 0 0 CCDC27 148870 broad.mit.edu 37 1 3670729 3670729 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:3670729G>A ENST00000294600.2 + 2 450 c.366G>A c.(364-366)atG>atA p.M122I NM_152492.2 NP_689705.2 Q2M243 CCD27_HUMAN coiled-coil domain containing 27 122 breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(2)|lung(17)|prostate(1)|skin(2)|urinary_tract(2) 36 all_cancers(77;0.0385)|Ovarian(185;0.0634)|Lung NSC(156;0.21)|all_lung(157;0.218) all_epithelial(116;5.52e-17)|all_lung(118;1.04e-06)|Lung NSC(185;0.000214)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Lung SC(97;0.0367)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127) Epithelial(90;1.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.35e-22)|GBM - Glioblastoma multiforme(42;3.46e-16)|Colorectal(212;1.17e-05)|COAD - Colon adenocarcinoma(227;5.76e-05)|Kidney(185;0.00036)|BRCA - Breast invasive adenocarcinoma(365;0.000696)|KIRC - Kidney renal clear cell carcinoma(229;0.00558)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203) TGTCCAAAATGGAACTTCGAA 0.602000 6 256 0 0 1 0 0 KRTAP24-1 643803 broad.mit.edu 37 21 31654547 31654547 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr21:31654547G>A ENST00000340345.4 - 1 729 c.704C>T c.(703-705)cCc>cTc p.P235L NM_001085455.1 NP_001078924.1 Q3LI83 KR241_HUMAN keratin associated protein 24-1 235 6 X 10 AA repeats of Y-[ILR]-[SVPC]- [NRTS]-[SNTG]-X-[QHRP]-[PSY]-[QSL]-[SRK]. keratin filament structural molecule activity p.P235H(1) breast(1)|large_intestine(3)|lung(7)|urinary_tract(3) 14 AAAGGTACTGGGTATATAGCT 0.428000 58 104 0 0 1 0 0 AGTR2 186 broad.mit.edu 37 X 115303947 115303947 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chrX:115303947G>A ENST00000371906.4 + 3 604 c.414G>A c.(412-414)atG>atA p.M138I NM_000686.4 NP_000677.2 P50052 AGTR2_HUMAN angiotensin II receptor, type 2 138 behavior|blood vessel remodeling|brain development|G-protein signaling, coupled to cGMP nucleotide second messenger|intracellular protein kinase cascade|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of heart rate|negative regulation of nerve growth factor receptor signaling pathway|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of nitric-oxide synthase activity|positive regulation of phosphoprotein phosphatase activity|positive regulation of vasodilation|regulation of systemic arterial blood pressure by circulatory renin-angiotensin angiotensin type II receptor activity|receptor antagonist activity breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|skin(1) 24 TCACCTGCATGAGTGTTGATA 0.403000 137 53 0 0 1 0 0 MAP4K4 9448 broad.mit.edu 37 2 102456429 102456429 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:102456429C>T ENST00000413150.2 + 10 977 c.922C>T c.(922-924)Cgt>Tgt p.R308C MAP4K4_ENST00000456652.1_Intron|MAP4K4_ENST00000425019.1_Missense_Mutation_p.R308C|MAP4K4_ENST00000324219.4_Missense_Mutation_p.R308C|MAP4K4_ENST00000350198.4_Missense_Mutation_p.R308C|MAP4K4_ENST00000347699.4_Missense_Mutation_p.R308C|MAP4K4_ENST00000302217.5_Intron|MAP4K4_ENST00000350878.4_Missense_Mutation_p.R288C NM_001242560.1|NM_004834.4 NP_001229489.1|NP_004825.3 O95819 M4K4_HUMAN mitogen-activated protein kinase kinase kinase kinase 4 308 intracellular protein kinase cascade|regulation of JNK cascade|response to stress cytoplasm ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 TCATATAGATCGTACCAGGAA 0.403000 7 88 0 0 1 0 0 VMP1 81671 broad.mit.edu 37 17 57808831 57808831 + Missense_Mutation SNP T T G TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:57808831T>G ENST00000262291.4 + 2 334 c.24T>G c.(22-24)tgT>tgG p.C8W VMP1_ENST00000537567.1_5'UTR|VMP1_ENST00000539763.1_5'UTR|VMP1_ENST00000545362.1_Missense_Mutation_p.C8W|VMP1_ENST00000536180.1_5'UTR NM_030938.3 NP_112200.2 Q96GC9 VMP1_HUMAN vacuole membrane protein 1 8 autophagy|cell adhesion endoplasmic reticulum|ER-Golgi intermediate compartment membrane|integral to membrane|plasma membrane|vacuolar membrane breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|skin(2) 16 GAAAAAATTGTGACCAGAGAC 0.363000 20 74 0 0 1 0 0 ACACB 32 broad.mit.edu 37 12 109614056 109614056 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:109614056C>T ENST00000338432.7 + 9 1544 c.1425C>T c.(1423-1425)atC>atT p.I475I ACACB_ENST00000377848.3_Silent_p.I475I|ACACB_ENST00000377854.5_Silent_p.I475I|ACACB_ENST00000543080.1_3'UTR O00763 ACACB_HUMAN acetyl-CoA carboxylase beta 475 ATP-grasp.|Biotin carboxylation. acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation cytosol|endomembrane system|Golgi apparatus|membrane acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 Biotin(DB00121) ACTTCCCGATCCTTTTCAGAC 0.468000 24 225 0 0 1 0 0 EDC4 23644 broad.mit.edu 37 16 67914622 67914622 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr16:67914622C>T ENST00000358933.5 + 18 2499 c.2260C>T c.(2260-2262)Cgt>Tgt p.R754C NM_014329.4 NP_055144.3 Q6P2E9 EDC4_HUMAN enhancer of mRNA decapping 4 754 exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay cytoplasmic mRNA processing body|cytosol|nucleus protein binding p.R754C(1) breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2) 41 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121) GGCCCTGTCCCGTGGTTTTGG 0.647000 114 148 0 0 1 0 0 PEG3 5178 broad.mit.edu 37 19 57328861 57328861 + Missense_Mutation SNP T T G TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:57328861T>G ENST00000326441.9 - 10 1312 c.949A>C c.(949-951)Aaa>Caa p.K317Q ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000601070.1_Intron|PEG3_ENST00000593695.1_Missense_Mutation_p.K191Q|PEG3_ENST00000598410.1_Missense_Mutation_p.K193Q|PEG3_ENST00000423103.2_Missense_Mutation_p.K317Q|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000593711.1_Intron NM_006210.2 NP_006201.1 Q9GZU2 PEG3_HUMAN paternally expressed 3 317 apoptosis|viral reproduction cytoplasm|nucleus nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6) 170 Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0269) TTGATGAATTTTTCCATTATC 0.468000 29 90 0 0 1 0 0 TRBV27 28560 broad.mit.edu 37 7 142423617 142423617 + RNA SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:142423617G>A ENST00000506718.1 + 0 625 TRBV27_ENST00000390399.3_RNA AAGAGAAGAGGAATTTCCCCC 0.512000 31 98 0 0 1 0 0 MEGF10 84466 broad.mit.edu 37 5 126771126 126771126 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:126771126C>T ENST00000274473.6 + 17 2316 c.2049C>T c.(2047-2049)ccC>ccT p.P683P MEGF10_ENST00000503335.2_Silent_p.P683P NM_032446.2 NP_115822.1 Q96KG7 MEG10_HUMAN multiple EGF-like-domains 10 683 EGF-like 12.|Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern. cell adhesion|phagocytosis basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 68 Prostate(80;0.165) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123) CCTGTAACCCCATTGACAGAT 0.423000 19 28 0 0 1 0 0 SLC13A1 6561 broad.mit.edu 37 7 122839998 122839998 + Translation_Start_Site SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:122839998C>T ENST00000194130.2 - 1 42 c.3G>A c.(1-3)atG>atA p.M1I NM_022444.3 NP_071889.2 Q9BZW2 S13A1_HUMAN solute carrier family 13 (sodium/sulfate symporter), member 1 1 integral to membrane|plasma membrane sodium:sulfate symporter activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 45 Succinic acid(DB00139) TGAAGAATTTCATTGTCCTGA 0.423000 10 61 0 0 1 0 0 OR11L1 391189 broad.mit.edu 37 1 248004887 248004887 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:248004887G>A ENST00000355784.2 - 1 367 c.312C>T c.(310-312)ttC>ttT p.F104F NM_001001959.1 NP_001001959.1 Q8NGX0 O11L1_HUMAN olfactory receptor, family 11, subfamily L, member 1 104 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 57 all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858) OV - Ovarian serous cystadenocarcinoma(106;0.0319) CGAGGAATACGAAGAAGTAGA 0.592000 11 33 0 0 1 0 0 SCAND3 114821 broad.mit.edu 37 6 28543603 28543603 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:28543603C>T ENST00000452236.2 - 3 1496 c.879G>A c.(877-879)ggG>ggA p.G293G NM_052923.1 NP_443155.1 Q6R2W3 SCND3_HUMAN SCAN domain containing 3 293 DNA integration|viral reproduction nucleus DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3) 71 TATCTGTTTCCCCATTTACAG 0.408000 12 342 0 0 1 0 0 BCRP7 100133163 broad.mit.edu 37 22 18844924 18844924 + RNA SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr22:18844924C>T ENST00000412938.1 + 0 3174 CGTTCACGTCCATCTCGCTCA 0.572000 16 152 0 0 1 0 0 SFI1 9814 broad.mit.edu 37 22 31927102 31927102 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr22:31927102C>T ENST00000432498.1 + 4 718 c.325C>T c.(325-327)Ccc>Tcc p.P109S SFI1_ENST00000400288.2_Missense_Mutation_p.P109S|SFI1_ENST00000400289.1_Intron|SFI1_ENST00000443326.1_Intron|SFI1_ENST00000443011.1_Intron|SFI1_ENST00000414585.1_Intron|SFI1_ENST00000540643.1_Intron NM_014775.3 NP_055590.2 A8K8P3 SFI1_HUMAN Sfi1 homolog, spindle assembly associated (yeast) 109 G2/M transition of mitotic cell cycle centriole|cytosol NS(2)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3) 38 AAGAGTATTTCCCTCTAAAGC 0.318000 51 99 0 0 1 0 0 UHRF1BP1L 23074 broad.mit.edu 37 12 100452885 100452885 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:100452885G>A ENST00000279907.7 - 14 2382 c.2170C>T c.(2170-2172)Ctt>Ttt p.L724F UHRF1BP1L_ENST00000545232.2_Missense_Mutation_p.L374F NM_015054.1 NP_055869.1 A0JNW5 UH1BL_HUMAN UHRF1 binding protein 1-like 724 breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1) 50 CAAATGGAAAGAGGGAATGAG 0.388000 13 149 0 0 1 0 0 CBX6 23466 broad.mit.edu 37 22 39262668 39262668 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr22:39262668G>A ENST00000407418.3 - 5 908 c.785C>T c.(784-786)gCc>gTc p.A262V CBX6_ENST00000216083.6_Missense_Mutation_p.A244V O95503 CBX6_HUMAN chromobox homolog 6 262 chromatin modification|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent PcG protein complex large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1) 6 Melanoma(58;0.04) GGCGGGGGCGGCCAGAAGTAG 0.741000 14 20 0 0 1 0 0 MAT2A 4144 broad.mit.edu 37 2 85770808 85770808 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:85770808G>A ENST00000306434.3 + 9 1224 c.1101G>A c.(1099-1101)aaG>aaA p.K367K NM_005911.5 NP_005902.1 P31153 METK2_HUMAN methionine adenosyltransferase II, alpha 367 methylation|xenobiotic metabolic process cytosol ATP binding|metal ion binding|methionine adenosyltransferase activity breast(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 9 L-Methionine(DB00134)|S-Adenosylmethionine(DB00118) TGGATCTGAAGAAGCCAATTT 0.393000 5 24 0 0 1 0 0 IL18RAP 8807 broad.mit.edu 37 2 103068490 103068490 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:103068490G>A ENST00000264260.2 + 12 2238 c.1649G>A c.(1648-1650)aGg>aAg p.R550K IL18RAP_ENST00000409369.1_Missense_Mutation_p.R408K NM_003853.2 NP_003844.1 O95256 I18RA_HUMAN interleukin 18 receptor accessory protein 550 TIR. cell surface receptor linked signaling pathway|inflammatory response|innate immune response integral to membrane transmembrane receptor activity autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4) 37 CCCAATTCTAGGTTCTGGGCC 0.463000 11 238 0 0 1 0 0 CREB5 9586 broad.mit.edu 37 7 28848891 28848891 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:28848891G>A ENST00000357727.2 + 9 1504 c.1114G>A c.(1114-1116)Gag>Aag p.E372K CREB5_ENST00000396298.2_Missense_Mutation_p.E233K|CREB5_ENST00000409603.1_Missense_Mutation_p.E339K|CREB5_ENST00000396300.2_Missense_Mutation_p.E365K|CREB5_ENST00000396299.2_Missense_Mutation_p.E339K NM_182898.2 NP_878901.2 Q02930 CREB5_HUMAN cAMP responsive element binding protein 5 372 positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(13)|prostate(1)|skin(3) 32 GGTGGTAGACGAGGATCCGGA 0.607000 6 113 0 0 1 0 0 DUSP27 92235 broad.mit.edu 37 1 167097668 167097668 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:167097668G>A ENST00000361200.2 + 6 3466 c.3300G>A c.(3298-3300)gaG>gaA p.E1100E DUSP27_ENST00000443333.1_Silent_p.E1100E|DUSP27_ENST00000271385.5_Silent_p.E1100E|DUSP27_ENST00000485151.1_Intron Q5VZP5 DUS27_HUMAN dual specificity phosphatase 27 (putative) 1100 protein dephosphorylation protein tyrosine/serine/threonine phosphatase activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3) 89 AAGAGGGAGAGAAAGAGAGGA 0.498000 16 61 0 0 1 0 0 ATP6V0A4 50617 broad.mit.edu 37 7 138455891 138455891 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:138455891C>T ENST00000310018.2 - 3 384 c.102G>A c.(100-102)ttG>ttA p.L34L ATP6V0A4_ENST00000393054.1_Silent_p.L34L|ATP6V0A4_ENST00000483139.1_5'UTR|ATP6V0A4_ENST00000353492.4_Silent_p.L34L NM_020632.2|NM_130840.2 NP_065683.2|NP_570855.2 Q9HBG4 VPP4_HUMAN ATPase, H+ transporting, lysosomal V0 subunit a4 34 cellular iron ion homeostasis|excretion|insulin receptor signaling pathway|ossification|regulation of pH|sensory perception of sound|transferrin transport apical plasma membrane|brush border membrane|endosome membrane|integral to membrane|proton-transporting two-sector ATPase complex, proton-transporting domain ATPase binding|hydrogen ion transmembrane transporter activity NS(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 36 TGAACTGAACCAATCCGAGCT 0.468000 29 563 0 0 1 0 0 CARD11 84433 broad.mit.edu 37 7 2984154 2984154 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:2984154C>T ENST00000396946.4 - 5 779 c.376G>A c.(376-378)Ggc>Agc p.G126S AC004906.3_ENST00000423194.1_RNA NM_032415.4 NP_115791.3 Q9BXL7 CAR11_HUMAN caspase recruitment domain family, member 11 126 positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway cytosol|membrane raft|plasma membrane CARD domain binding|guanylate kinase activity NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2) 150 Ovarian(82;0.0115) OV - Ovarian serous cystadenocarcinoma(56;8.44e-14) TGCGTGAGGCCCTCGTGGCCT 0.612000 Mis DLBCL 29 85 0 0 1 0 0 C1orf94 84970 broad.mit.edu 37 1 34662922 34662922 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:34662922G>A ENST00000488417.1 + 2 537 c.417G>A c.(415-417)gaG>gaA p.E139E C1orf94_ENST00000373374.3_5'UTR NM_001134734.1 NP_001128206.1 Q6P1W5 CA094_HUMAN chromosome 1 open reading frame 94 0 protein binding central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(15)|skin(4)|upper_aerodigestive_tract(2) 32 Myeloproliferative disorder(586;0.0393) TGGTCGAAGAGAGTTCTGGGG 0.582000 9 11 0 0 1 0 0 ZNF155 7711 broad.mit.edu 37 19 44500806 44500806 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:44500806G>A ENST00000270014.2 + 5 925 c.797G>A c.(796-798)gGg>gAg p.G266E ZNF155_ENST00000407951.2_Missense_Mutation_p.G277E|ZNF155_ENST00000590615.1_Missense_Mutation_p.G266E NM_001260487.1|NM_198089.2 NP_001247416.1|NP_932355.2 Q12901 ZN155_HUMAN zinc finger protein 155 266 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(2) 15 Prostate(69;0.0352) GAGGCATGTGGGAAGGCCTTC 0.393000 78 133 0 0 1 0 0 DENR 8562 broad.mit.edu 37 12 123252104 123252104 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:123252104G>A ENST00000280557.6 + 6 551 c.365G>A c.(364-366)aGa>aAa p.R122K DENR_ENST00000455982.2_Missense_Mutation_p.R122K NM_003677.3 NP_003668.2 O43583 DENR_HUMAN density-regulated protein 122 SUI1. protein binding|translation initiation factor activity kidney(1)|large_intestine(1)|urinary_tract(1) 3 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;2.28e-05)|Epithelial(86;6.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.199) AAAATTCCCAGAGCAAAGAAG 0.348000 4 21 0 0 1 0 0 AMPH 273 broad.mit.edu 37 7 38500931 38500931 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:38500931G>A ENST00000356264.2 - 11 1184 c.969C>T c.(967-969)ttC>ttT p.F323F AMPH_ENST00000325590.5_Silent_p.F323F|AMPH_ENST00000428293.2_Silent_p.F323F NM_001635.3 NP_001626.1 P49418 AMPH_HUMAN amphiphysin 323 endocytosis|synaptic transmission actin cytoskeleton|cell junction|synaptic vesicle membrane breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2) 62 TGTCCTCAAAGAAACTGATGA 0.483000 40 119 0 0 1 0 0 IP6K3 117283 broad.mit.edu 37 6 33690661 33690661 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:33690661G>A ENST00000451316.1 - 7 1604 c.1069C>T c.(1069-1071)Ccc>Tcc p.P357S IP6K3_ENST00000293756.4_Missense_Mutation_p.P357S NM_001142883.1 NP_001136355.1 Q96PC2 IP6K3_HUMAN inositol hexakisphosphate kinase 3 357 inositol phosphate biosynthetic process|phosphatidylinositol metabolic process|protein phosphorylation cytoplasm ATP binding|inositol hexakisphosphate 5-kinase activity|inositol hexakisphosphate 6-kinase activity|inositol trisphosphate 3-kinase activity skin(1) 1 AGACCACCGGGAGAGCTACCG 0.577000 50 156 0 0 1 0 0 PRG4 10216 broad.mit.edu 37 1 186277029 186277029 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:186277029G>A ENST00000445192.2 + 7 2223 c.2178G>A c.(2176-2178)aaG>aaA p.K726K PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367483.4_Silent_p.K685K|PRG4_ENST00000367485.4_Silent_p.K633K|PRG4_ENST00000367486.3_Silent_p.K683K NM_005807.3 NP_005798.2 Q92954 PRG4_HUMAN proteoglycan 4 726 59 X 8 AA repeats of K-X-P-X-P-T-T-X. cell proliferation|immune response extracellular region polysaccharide binding|protein binding|scavenger receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1) 102 CTACTCCCAAGAAGCCTGCCC 0.587000 101 305 0 0 1 0 0 CCDC151 115948 broad.mit.edu 37 19 11541596 11541596 + Splice_Site SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:11541596C>T ENST00000356392.4 - 3 454 c.366_splice c.e3-1 p.G123_splice CCDC151_ENST00000591179.1_Intron|CCDC151_ENST00000586836.1_5'UTR|CCDC151_ENST00000545100.1_Splice_Site_p.G69_splice NM_145045.4 NP_659482.3 A5D8V7 CC151_HUMAN coiled-coil domain containing 151 123 endometrium(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1) 12 TTCTCATCTCCCTGCAAGGAG 0.587000 59 114 0 0 1 0 0 TTBK1 84630 broad.mit.edu 37 6 43226860 43226860 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:43226860G>A ENST00000259750.4 + 11 1184 c.1101G>A c.(1099-1101)caG>caA p.Q367Q TTBK1_ENST00000304139.5_Silent_p.Q316Q NM_032538.1 NP_115927.1 Q5TCY1 TTBK1_HUMAN tau tubulin kinase 1 367 cell junction|cytoplasm|nucleus ATP binding|protein binding|protein serine/threonine kinase activity breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 53 Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399) TGAGTGACCAGGAGAATGCAC 0.667000 16 173 0 0 1 0 0 CDH6 1004 broad.mit.edu 37 5 31323152 31323152 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:31323152C>T ENST00000265071.2 + 12 2375 c.2110C>T c.(2110-2112)Cca>Tca p.P704S NM_004932.3 NP_004923.1 P55285 CADH6_HUMAN cadherin 6, type 2, K-cadherin (fetal kidney) 704 adherens junction organization|cell junction assembly|homophilic cell adhesion cytoplasm|integral to membrane|nucleus|plasma membrane calcium ion binding NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 77 CCGACGGACTCCAACAGCTCG 0.522000 35 55 0 0 1 0 0 DNAI2 64446 broad.mit.edu 37 17 72277960 72277960 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:72277960G>A ENST00000579490.1 + 1 310 c.175G>A c.(175-177)Gag>Aag p.E59K DNAI2_ENST00000311014.6_Missense_Mutation_p.E2K|DNAI2_ENST00000446837.2_Missense_Mutation_p.E2K|DNAI2_ENST00000582036.1_Missense_Mutation_p.E2K|DNAI2_ENST00000307504.5_5'UTR Q9GZS0 DNAI2_HUMAN dynein, axonemal, intermediate chain 2 2 cilium assembly axonemal dynein complex|cilium axoneme|cytoplasm|microtubule microtubule motor activity p.E2K(1) breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(2)|lung(19)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 39 CGGCACCATGGAGATTGTGTA 0.627000 Kartagener syndrome 43 146 0 0 1 0 0 RTN4R 65078 broad.mit.edu 37 22 20229922 20229922 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr22:20229922G>A ENST00000043402.7 - 2 1172 c.734C>T c.(733-735)gCc>gTc p.A245V NM_023004.5 NP_075380.1 Q9BZR6 RTN4R_HUMAN reticulon 4 receptor 245 axonogenesis|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway anchored to membrane|cell surface|endoplasmic reticulum|plasma membrane protein binding|receptor activity lung(1)|ovary(1)|prostate(1) 3 Colorectal(54;0.0993) GGGGGCCAGGGCCTCAGTGGG 0.637000 17 36 0 0 1 0 0 EGF 1950 broad.mit.edu 37 4 110885658 110885658 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:110885658G>A ENST00000265171.5 + 10 1985 c.1540G>A c.(1540-1542)Gtt>Att p.V514I EGF_ENST00000509793.1_Missense_Mutation_p.V472I|EGF_ENST00000503392.1_Missense_Mutation_p.V514I NM_001178130.1|NM_001963.4 NP_001171601.1|NP_001954.2 P01133 EGF_HUMAN epidermal growth factor 514 angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface integral to membrane|plasma membrane|platelet alpha granule lumen calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 50 Hepatocellular(203;0.0893) OV - Ovarian serous cystadenocarcinoma(123;9.87e-06) Sulindac(DB00605) GATGGGAATGGTTTATGCCCT 0.408000 8 204 0 0 1 0 0 SPINK5 11005 broad.mit.edu 37 5 147451760 147451760 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:147451760C>T ENST00000359874.3 + 4 332 c.259C>T c.(259-261)Ccc>Tcc p.P87S SPINK5_ENST00000398454.1_Missense_Mutation_p.P87S|SPINK5_ENST00000256084.7_Missense_Mutation_p.P87S NM_001127698.1 NP_001121170.1 Q9NQ38 ISK5_HUMAN serine peptidase inhibitor, Kazal type 5 87 anagen|epithelial cell differentiation|extracellular matrix organization|hair cell differentiation|negative regulation of angiogenesis|negative regulation of immune response|regulation of T cell differentiation cell cortex|cytosol|endoplasmic reticulum membrane|extracellular region|lamellar body|perinuclear region of cytoplasm serine-type endopeptidase inhibitor activity breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(8)|upper_aerodigestive_tract(2) 64 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AGCAAGAGCTCCCAAGGCTAC 0.403000 37 79 0 0 1 0 0 SHH 6469 broad.mit.edu 37 7 155596355 155596355 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:155596355C>T ENST00000297261.2 - 3 778 c.628G>A c.(628-630)Ggc>Agc p.G210S NM_000193.2 NP_000184.1 Q15465 SHH_HUMAN sonic hedgehog 210 androgen metabolic process|axon guidance|branching involved in ureteric bud morphogenesis|CD4-positive or CD8-positive, alpha-beta T cell lineage commitment|embryonic digit morphogenesis|hindbrain development|intein-mediated protein splicing|lymphoid progenitor cell differentiation|metanephric mesenchymal cell proliferation involved in metanephros development|midbrain development|negative regulation of cell migration|negative regulation of kidney smooth muscle cell differentiation|negative regulation of ureter smooth muscle cell differentiation|negative thymic T cell selection|neural crest cell migration|neuroblast proliferation|patterning of blood vessels|positive regulation of alpha-beta T cell differentiation|positive regulation of immature T cell proliferation in thymus|positive regulation of kidney smooth muscle cell differentiation|positive regulation of mesenchymal cell proliferation involved in ureter development|positive regulation of T cell differentiation in thymus|positive regulation of ureter smooth muscle cell differentiation|positive thymic T cell selection|proteolysis|sclerotome development|stem cell development|thymus development|vasculogenesis|ventral midline development cell surface|extracellular space|membrane raft|plasma membrane calcium ion binding|laminin-1 binding|peptidase activity|signal transducer activity|zinc ion binding central_nervous_system(3)|kidney(1)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1) 14 all_neural(206;0.101) all_hematologic(28;0.0592) OV - Ovarian serous cystadenocarcinoma(82;0.00882) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) TTGGTGCCGCCCTGCTCCAGG 0.672000 23 34 0 0 1 0 0 RHOA 387 broad.mit.edu 37 3 49405915 49405915 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:49405915G>A ENST00000418115.1 - 3 607 c.223C>T c.(223-225)Cca>Tca p.P75S RHOA_ENST00000454011.2_Intron|RHOA_ENST00000422781.1_Missense_Mutation_p.P75S NM_001664.2 NP_001655.1 P61586 RHOA_HUMAN ras homolog family member A 75 axon guidance|interspecies interaction between organisms|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of axonogenesis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of neuron differentiation|positive regulation of NF-kappaB import into nucleus|positive regulation of stress fiber assembly|regulation of cell migration|regulation of small GTPase mediated signal transduction|Rho protein signal transduction|spindle assembly involved in mitosis cytoskeleton|cytosol|plasma membrane GTP binding|GTPase activity|myosin binding cervix(1)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 12 BRCA - Breast invasive adenocarcinoma(193;8.58e-05)|Kidney(197;0.0023)|KIRC - Kidney renal clear cell carcinoma(197;0.00258) Atorvastatin(DB01076)|Simvastatin(DB00641) TCGGTATCTGGGTAGGAGAGG 0.498000 76 133 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179398942 179398942 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:179398942C>T ENST00000589042.1 - 358 102624 c.102400G>A c.(102400-102402)Gaa>Aaa p.E34134K TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E25194K|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E32493K|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E31566K|TTN-AS1_ENST00000585487.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E25069K|TTN_ENST00000342175.6_Missense_Mutation_p.E25261K|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000419746.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 32493 Ig-like 151.|Ser-rich. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GGGCCAATTTCAATGGATGCC 0.443000 55 122 0 0 1 0 0 HKDC1 80201 broad.mit.edu 37 10 71025384 71025384 + Missense_Mutation SNP C C G TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:71025384C>G ENST00000354624.5 + 17 2549 c.2416C>G c.(2416-2418)Ctg>Gtg p.L806V RP11-227H15.5_ENST00000413220.1_RNA NM_025130.3 NP_079406.3 Q2TB90 HKDC1_HUMAN hexokinase domain containing 1 806 glycolysis mitochondrion|nucleus ATP binding|hexokinase activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 34 TCTGCAGCAGCTGGGCCTGGA 0.682000 32 106 0 0 1 0 0 GKAP1 80318 broad.mit.edu 37 9 86368203 86368203 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:86368203C>T ENST00000376371.2 - 9 1210 c.810G>A c.(808-810)caG>caA p.Q270Q GKAP1_ENST00000376365.3_Silent_p.Q219Q NM_025211.3 NP_079487.2 Q5VSY0 GKAP1_HUMAN G kinase anchoring protein 1 270 signal transduction Golgi apparatus endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|prostate(2) 14 TTTTCAGCTTCTGGATTTCAG 0.323000 39 68 0 0 1 0 0 PCLO 27445 broad.mit.edu 37 7 82579377 82579377 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:82579377G>A ENST00000423517.2 - 6 10864 c.10527C>T c.(10525-10527)ccC>ccT p.P3509P PCLO_ENST00000333891.8_Silent_p.P3509P|PCLO_ENST00000437081.1_Silent_p.P229P NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 3440 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 CTTTGGAAAGGGGTTTGGTCT 0.478000 26 96 0 0 1 0 0 VIPR2 7434 broad.mit.edu 37 7 158824632 158824632 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:158824632G>A ENST00000262178.2 - 11 1283 c.1098C>T c.(1096-1098)ttC>ttT p.F366F VIPR2_ENST00000402066.1_Silent_p.F507F|VIPR2_ENST00000377633.3_Silent_p.F350F NM_003382.4 NP_003373.2 P41587 VIPR2_HUMAN vasoactive intestinal peptide receptor 2 366 cell-cell signaling integral to plasma membrane central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(1)|stomach(1) 22 Ovarian(565;0.152) all_cancers(7;1.13e-11)|all_epithelial(9;0.000545)|all_hematologic(28;0.00603) OV - Ovarian serous cystadenocarcinoma(82;0.00231) UCEC - Uterine corpus endometrioid carcinoma (81;0.2)|STAD - Stomach adenocarcinoma(7;0.18) CACCTACCTGGAACGACCCGA 0.597000 37 166 0 0 1 0 0 EMR1 2015 broad.mit.edu 37 19 6937295 6937295 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:6937295G>A ENST00000312053.4 + 19 2460 c.2423G>A c.(2422-2424)gGc>gAc p.G808D EMR1_ENST00000381407.5_Missense_Mutation_p.G667D|EMR1_ENST00000450315.3_Missense_Mutation_p.G631D|EMR1_ENST00000250572.8_Missense_Mutation_p.G743D|EMR1_ENST00000381404.4_Missense_Mutation_p.G789D NM_001974.4 NP_001965.3 Q14246 EMR1_HUMAN egf-like module containing, mucin-like, hormone receptor-like 1 808 cell adhesion|neuropeptide signaling pathway integral to plasma membrane calcium ion binding|G-protein coupled receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8) 62 all_hematologic(4;0.166) TTCATCCTGGGCTGCTCCTGG 0.552000 5 149 0 0 1 0 0 KRTAP17-1 83902 broad.mit.edu 37 17 39471804 39471804 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:39471804G>A ENST00000334202.3 - 1 143 c.99C>T c.(97-99)ggC>ggT p.G33G NM_031964.1 NP_114170.1 Q9BYP8 KR171_HUMAN keratin associated protein 17-1 33 intermediate filament haematopoietic_and_lymphoid_tissue(1)|large_intestine(1) 2 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000449) cacagcaggagccgcagcagc 0.682000 15 23 0 0 1 0 0 GRM2 2912 broad.mit.edu 37 3 51752070 51752070 + Missense_Mutation SNP T T G TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:51752070T>G ENST00000395052.3 + 6 2795 c.2561T>G c.(2560-2562)tTt>tGt p.F854C GRM2_ENST00000475478.1_3'UTR|GRM2_ENST00000442933.2_Missense_Mutation_p.F576C NM_000839.3 NP_000830.2 Q14416 GRM2_HUMAN glutamate receptor, metabotropic 2 854 synaptic transmission integral to plasma membrane breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 33 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716) Acamprosate(DB00659)|Nicotine(DB00184) GGCTCCCAGTTTGTCCCCACT 0.602000 93 211 0 0 1 0 0 LAMC3 10319 broad.mit.edu 37 9 133961076 133961076 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:133961076G>A ENST00000361069.4 + 25 4329 c.4196G>A c.(4195-4197)aGa>aAa p.R1399K LAMC3_ENST00000480883.1_Intron NM_006059.3 NP_006050.3 Q9Y6N6 LAMC3_HUMAN laminin, gamma 3 1399 Domain II and I. cell adhesion basement membrane|membrane structural molecule activity endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3) 69 all_hematologic(7;0.0028) Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551) AAGAAGGGCAGAGAAGCAGAG 0.622000 18 50 0 0 1 0 0 IGHV2-70 28454 broad.mit.edu 37 14 107178905 107178905 + RNA SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr14:107178905G>A ENST00000390634.2 - 0 347 GGTGTCCTTGGAGATGGTGAG 0.517000 65 100 0 0 1 0 0 JPH1 56704 broad.mit.edu 37 8 75227271 75227271 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:75227271G>A ENST00000342232.4 - 2 1004 c.964C>T c.(964-966)Cct>Tct p.P322S NM_020647.2 NP_065698.1 Q9HDC5 JPH1_HUMAN junctophilin 1 322 calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity integral to membrane|junctional membrane complex|junctional sarcoplasmic reticulum membrane|plasma membrane endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(2) 24 Breast(64;0.00576) BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176) GAGCCGTCAGGAAACACGGTA 0.463000 75 160 0 0 1 0 0 XPC 7508 broad.mit.edu 37 3 14212044 14212044 + Missense_Mutation SNP A A T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:14212044A>T ENST00000285021.7 - 3 520 c.306T>A c.(304-306)ttT>ttA p.F102L XPC_ENST00000449060.2_Missense_Mutation_p.F102L NM_001145769.1|NM_004628.4 NP_001139241.1|NP_004619.3 Q01831 XPC_HUMAN xeroderma pigmentosum, complementation group C 102 Glu-rich (acidic). nucleotide-excision repair, DNA damage recognition|nucleotide-excision repair, DNA damage removal cytoplasm|nucleoplasm|XPC complex bubble DNA binding|damaged DNA binding|loop DNA binding|protein binding|single-stranded DNA binding NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 GGTCACTTGGAAAGTCCCTGT 0.423000 """Mis, N, F, S""" """skin basal cell, skin squamous cell, melanoma""" Nucleotide excision repair (NER) Xeroderma Pigmentosum 10 179 0 0 1 0 0 CHSY3 337876 broad.mit.edu 37 5 129520525 129520525 + Nonsense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:129520525C>T ENST00000305031.4 + 3 2048 c.1690C>T c.(1690-1692)Cag>Tag p.Q564* NM_175856.4 NP_787052.3 Q70JA7 CHSS3_HUMAN chondroitin sulfate synthase 3 564 Golgi cisterna membrane|integral to membrane glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|urinary_tract(1) 28 all_cancers(142;0.0227)|Breast(839;0.198)|Prostate(80;0.215)|Lung NSC(810;0.239) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) OV - Ovarian serous cystadenocarcinoma(64;0.136) TGCCTATCTTCAGCAGTTGTT 0.443000 4 75 0 0 1 0 0 ORMDL3 94103 broad.mit.edu 37 17 38079460 38079460 + Missense_Mutation SNP C C G TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:38079460C>G ENST00000394169.1 - 5 1725 c.231G>C c.(229-231)caG>caC p.Q77H ORMDL3_ENST00000584220.1_Missense_Mutation_p.Q61H|ORMDL3_ENST00000579695.1_Missense_Mutation_p.Q77H|ORMDL3_ENST00000304046.2_Missense_Mutation_p.Q77H Q8N138 ORML3_HUMAN ORM1-like 3 (S. cerevisiae) 77 ceramide metabolic process integral to membrane|SPOTS complex protein binding endometrium(3)|kidney(1)|lung(1) 5 Colorectal(19;0.000442) Lung(15;0.0234) TCGCCTTGCCCTGGTCCGGGG 0.552000 104 175 0 0 1 0 0 SLC5A7 60482 broad.mit.edu 37 2 108627165 108627165 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:108627165C>T ENST00000264047.2 + 9 1867 c.1591C>T c.(1591-1593)Ctt>Ttt p.L531F SLC5A7_ENST00000540517.1_Missense_Mutation_p.L426F|SLC5A7_ENST00000409059.1_Missense_Mutation_p.L531F NM_021815.2 NP_068587.1 Q9GZV3 SC5A7_HUMAN solute carrier family 5 (sodium/choline cotransporter), member 7 531 acetylcholine biosynthetic process|neurotransmitter secretion integral to membrane|plasma membrane choline:sodium symporter activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2) 49 Choline(DB00122) TAAGACAATTCTTGTCAAAAA 0.378000 23 48 0 0 1 0 0 PLS1 5357 broad.mit.edu 37 3 142389935 142389935 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:142389935C>T ENST00000337777.3 + 4 548 c.335C>T c.(334-336)tCc>tTc p.S112F PLS1_ENST00000497002.1_Missense_Mutation_p.S112F|PLS1_ENST00000457734.2_Missense_Mutation_p.S112F NM_002670.2 NP_002661.2 Q14651 PLSI_HUMAN plastin 1 112 Actin-binding 1. cytoplasm actin filament binding|calcium ion binding|structural constituent of cytoskeleton NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1) 27 TCAACTATTTCCAGTGAGGGC 0.338000 101 146 0 0 1 0 0 LILRB1 10859 broad.mit.edu 37 19 55142736 55142736 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:55142736C>T ENST00000396331.1 + 4 406 c.49C>T c.(49-51)Ccc>Tcc p.P17S LILRB1_ENST00000448689.1_Intron|LILRB1_ENST00000396332.4_Missense_Mutation_p.P17S|LILRB1_ENST00000324602.7_Missense_Mutation_p.P17S|LILRB1_ENST00000396315.1_Missense_Mutation_p.P17S|LILRB1_ENST00000396317.1_Missense_Mutation_p.P17S|LILRB1_ENST00000418536.2_Intron|LILRB1_ENST00000396321.2_Intron|LILRB1_ENST00000396327.3_Missense_Mutation_p.P17S|LILRB1_ENST00000427581.2_Missense_Mutation_p.P53S|LILRB1_ENST00000434867.2_Missense_Mutation_p.P17S NM_006669.3 NP_006660.3 Q8NHL6 LIRB1_HUMAN leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1 17 regulation of immune response|response to virus integral to membrane|plasma membrane protein phosphatase 1 binding|receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 74 GBM - Glioblastoma multiforme(193;0.0188) GAGTCTGGGCCCCAGGACCCA 0.677000 HNSCC(37;0.09) 54 116 0 0 1 0 0 TEX14 56155 broad.mit.edu 37 17 56636848 56636848 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:56636848C>T ENST00000389934.3 - 31 4470 c.4353G>A c.(4351-4353)agG>agA p.R1451R TEX14_ENST00000349033.5_Silent_p.R1411R|TEX14_ENST00000584699.1_5'UTR|TEX14_ENST00000240361.8_Silent_p.R1457R NM_001201457.1|NM_198393.3 NP_001188386.1|NP_938207.2 Q8IWB6 TEX14_HUMAN testis expressed 14 1457 cytoplasm ATP binding|protein kinase activity breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3) 81 Medulloblastoma(34;0.127)|all_neural(34;0.237) CCTCTGATTTCCTTCTTTCTG 0.353000 16 460 0 0 1 0 0 DGKI 9162 broad.mit.edu 37 7 137255981 137255981 + Silent SNP G G A rs146866035 by1000genomes TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:137255981G>A ENST00000453654.1 - 19 1526 c.987C>T c.(985-987)ttC>ttT p.F329F DGKI_ENST00000446122.1_Silent_p.F629F|DGKI_ENST00000424189.2_Silent_p.F629F|DGKI_ENST00000288490.5_Silent_p.F629F O75912 DGKI_HUMAN diacylglycerol kinase, iota 629 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation nucleus|plasma membrane ATP binding|diacylglycerol kinase activity|metal ion binding breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 84 GCTGAGGTTCGAAATCATGGT 0.383000 14 71 0 0 1 0 0 CT47A6 728062 broad.mit.edu 37 X 120094341 120094341 + Splice_Site SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chrX:120094341C>T ENST00000443600.2 - 1 996 c.742_splice c.e1+1 p.E248_splice CT47A5_ENST00000419194.2_Intron NM_001080141.1 NP_001073610.1 Q5JQC4 CT47A_HUMAN cancer/testis antigen family 47, member A6 248 large_intestine(1)|lung(4) 5 CGTTCCTTACCCTCTGGGGCC 0.682000 216 80 0 0 1 0 0 IL6R 3570 broad.mit.edu 37 1 154437848 154437848 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:154437848C>T ENST00000368485.3 + 10 1836 c.1399C>T c.(1399-1401)Ccc>Tcc p.P467S IL6R_ENST00000344086.4_3'UTR NM_000565.3 NP_000556.1 P08887 IL6RA_HUMAN interleukin 6 receptor 467 acute-phase response|ciliary neurotrophic factor-mediated signaling pathway|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|endocrine pancreas development|hepatic immune response|negative regulation of collagen biosynthetic process|negative regulation of interleukin-8 production|positive regulation of activation of Janus kinase activity|positive regulation of anti-apoptosis|positive regulation of chemokine production|positive regulation of interleukin-6 production|positive regulation of leukocyte chemotaxis|positive regulation of MAPKKK cascade|positive regulation of osteoblast differentiation|positive regulation of smooth muscle cell proliferation|positive regulation of tyrosine phosphorylation of Stat3 protein|regulation of apoptosis apical plasma membrane|basolateral plasma membrane|extracellular space|interleukin-6 receptor complex ciliary neurotrophic factor binding|enzyme binding|protein homodimerization activity IL6R/ATP8B2(2) breast(2)|large_intestine(1)|ovary(3) 6 all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877) LUSC - Lung squamous cell carcinoma(543;0.185) CTACTTCTTCCCCAGATAGCT 0.557000 8 181 0 0 1 0 0 ZEB1 6935 broad.mit.edu 37 10 31815986 31815986 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:31815986G>A ENST00000446923.2 + 9 3512 c.3121G>A c.(3121-3123)Gaa>Aaa p.E1041K ZEB1_ENST00000320985.10_Missense_Mutation_p.E1057K|ZEB1_ENST00000560721.2_Missense_Mutation_p.E1037K|ZEB1_ENST00000361642.5_Missense_Mutation_p.E1058K|ZEB1_ENST00000542815.3_Missense_Mutation_p.E990K NM_001128128.2|NM_001174094.1 NP_001121600.1|NP_001167565.1 P37275 ZEB1_HUMAN zinc finger E-box binding homeobox 1 1057 Glu-rich (acidic). cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation cytoplasm E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4) 77 Prostate(175;0.0156) aaaagaatgtgaaaaaccaca 0.448000 7 10 0 0 1 0 0 OR8D4 338662 broad.mit.edu 37 11 123777613 123777613 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:123777613C>T ENST00000321355.2 + 1 505 c.475C>T c.(475-477)Cat>Tat p.H159Y NM_001005197.1 NP_001005197.1 Q8NGM9 OR8D4_HUMAN olfactory receptor, family 8, subfamily D, member 4 159 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(1)|lung(16)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 25 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.93e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0409) TGCTGTGATCCATGGAGGTTG 0.468000 69 112 0 0 1 0 0 ATP6V1E2 90423 broad.mit.edu 37 2 46739210 46739210 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:46739210G>A ENST00000306448.4 - 2 1754 c.641C>T c.(640-642)gCc>gTc p.A214V ATP6V1E2_ENST00000522587.1_Missense_Mutation_p.A214V NM_080653.3 NP_542384.1 Q96A05 VATE2_HUMAN ATPase, H+ transporting, lysosomal 31kDa, V1 subunit E2 214 cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport cytosol|proton-transporting two-sector ATPase complex, catalytic domain proton-transporting ATPase activity, rotational mechanism p.A214V(1) cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1) 13 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) LUSC - Lung squamous cell carcinoma(58;0.151) ACCAAACAAGGCCATTCGTAT 0.413000 6 161 0 0 1 0 0 PEX1 5189 broad.mit.edu 37 7 92147512 92147512 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:92147512G>A ENST00000248633.4 - 4 510 c.415C>T c.(415-417)Cca>Tca p.P139S PEX1_ENST00000438045.1_Intron|PEX1_ENST00000428214.1_Missense_Mutation_p.P139S NM_000466.2 NP_000457.1 O43933 PEX1_HUMAN peroxisomal biogenesis factor 1 139 microtubule-based peroxisome localization|protein import into peroxisome matrix cytosol|nucleus|peroxisomal membrane ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592) Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123) GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23) ATGGCTTTTGGAAAAACTATT 0.343000 34 154 0 0 1 0 0 ANKRD11 29123 broad.mit.edu 37 16 89348096 89348096 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr16:89348096G>A ENST00000301030.4 - 9 5314 c.4854C>T c.(4852-4854)ccC>ccT p.P1618P ANKRD11_ENST00000378330.2_Silent_p.P1618P NM_001256183.1|NM_013275.5 NP_001243112.1|NP_037407.4 Q6UB99 ANR11_HUMAN ankyrin repeat domain 11 1618 Lys-rich. nucleus breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 83 all_hematologic(23;0.00824)|Colorectal(91;0.0475) Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142) CCTTGAGCTTGGGGTCTCCGG 0.597000 19 114 0 0 1 0 0 DARC 2532 broad.mit.edu 37 1 159176223 159176223 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:159176223C>T ENST00000537147.1 + 3 1837 c.994C>T c.(994-996)Ctt>Ttt p.L332F DARC_ENST00000368121.2_Missense_Mutation_p.L334F|DARC_ENST00000368122.2_Missense_Mutation_p.L332F Q16570 DUFFY_HUMAN Duffy blood group, atypical chemokine receptor 332 defense response integral to membrane|plasma membrane C-C chemokine binding|chemokine receptor activity large_intestine(2)|lung(1)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 8 all_hematologic(112;0.0429) TCTGGACACCCTTGGAAGCAA 0.547000 12 647 0 0 1 0 0 PDYN 5173 broad.mit.edu 37 20 1961542 1961542 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr20:1961542G>A ENST00000217305.2 - 4 417 c.192C>T c.(190-192)agC>agT p.S64S PDYN_ENST00000540134.1_Silent_p.S64S|PDYN_ENST00000539905.1_Silent_p.S64S|RP4-684O24.5_ENST00000446562.1_RNA NM_001190892.1|NM_001190898.2|NM_024411.4 NP_001177821.1|NP_001177827.1|NP_077722.1 P01213 PDYN_HUMAN prodynorphin 64 cell death|neuropeptide signaling pathway|synaptic transmission extracellular region|plasma membrane opioid peptide activity endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 AAGACAGAAAGCTCTGGCATC 0.557000 35 91 0 0 1 0 0 TAGAP 117289 broad.mit.edu 37 6 159461780 159461780 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:159461780C>T ENST00000367066.3 - 7 893 c.562G>A c.(562-564)Gag>Aag p.E188K TAGAP_ENST00000326965.6_Missense_Mutation_p.E10K|RP1-111C20.4_ENST00000606470.1_RNA|RP1-111C20.4_ENST00000607391.1_RNA|TAGAP_ENST00000338313.5_Missense_Mutation_p.E188K|RP1-111C20.4_ENST00000606466.1_RNA|RP1-111C20.4_ENST00000607796.1_RNA NM_054114.3 NP_473455.2 Q8N103 TAGAP_HUMAN T-cell activation RhoGTPase activating protein 188 Rho-GAP. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|guanyl-nucleotide exchange factor activity NS(1)|autonomic_ganglia(1)|endometrium(3)|large_intestine(8)|lung(7)|ovary(2)|skin(1) 23 Breast(66;0.000776)|Ovarian(120;0.0303) OV - Ovarian serous cystadenocarcinoma(65;2.16e-16)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06) ATTCTGTCCTCCTCGTCCTGC 0.507000 6 141 0 0 1 0 0 FSIP2 401024 broad.mit.edu 37 2 186672472 186672472 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:186672472G>A ENST00000343098.5 + 17 18706 c.18706G>A c.(18706-18708)Gaa>Aaa p.E6236K FSIP2_ENST00000424728.1_Missense_Mutation_p.E6147K NM_173651.2 NP_775922.2 fibrous sheath interacting protein 2 NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2) 69 TGTGGAAGTTGAAAACATCGT 0.393000 34 63 0 0 1 0 0 C15orf39 56905 broad.mit.edu 37 15 75499624 75499624 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr15:75499624C>T ENST00000360639.2 + 2 1555 c.1235C>T c.(1234-1236)gCc>gTc p.A412V C15orf39_ENST00000394987.4_Missense_Mutation_p.A412V|C15orf39_ENST00000567617.1_Missense_Mutation_p.A412V Q6ZRI6 CO039_HUMAN chromosome 15 open reading frame 39 412 autonomic_ganglia(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1) 16 CAGCCTGGTGCCTTCCAGAGG 0.632000 52 118 0 0 1 0 0 CYP2C8 1558 broad.mit.edu 37 10 96824560 96824560 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:96824560G>A ENST00000371270.3 - 4 733 c.639C>T c.(637-639)atC>atT p.I213I CYP2C8_ENST00000535898.1_Silent_p.I111I|CYP2C8_ENST00000539050.1_Silent_p.I127I NM_000770.3|NM_001198853.1|NM_001198855.1 NP_000761.3|NP_001185782.1|NP_001185784.1 P10632 CP2C8_HUMAN cytochrome P450, family 2, subfamily C, polypeptide 8 213 exogenous drug catabolic process|organic acid metabolic process|oxidative demethylation|xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|caffeine oxidase activity|electron carrier activity|heme binding|oxygen binding breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|skin(3) 21 Colorectal(252;0.0397) all cancers(201;6.21e-05) Aminophenazone(DB01424)|Amiodarone(DB01118)|Amodiaquine(DB00613)|Benzphetamine(DB00865)|Carbamazepine(DB00564)|Cerivastatin(DB00439)|Diclofenac(DB00586)|Fluvastatin(DB01095)|Fosphenytoin(DB01320)|Gemfibrozil(DB01241)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lovastatin(DB00227)|Midazolam(DB00683)|Montelukast(DB00471)|Nicardipine(DB00622)|Paclitaxel(DB01229)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Repaglinide(DB00912)|Rifampin(DB01045)|Rosiglitazone(DB00412)|Simvastatin(DB00641)|Sitagliptin(DB01261)|Tolbutamide(DB01124)|Torasemide(DB00214)|Tretinoin(DB00755)|Trimethoprim(DB00440)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zopiclone(DB01198) GCCTTACCTGGATCCATGGGG 0.338000 28 62 0 0 1 0 0 SLC4A9 83697 broad.mit.edu 37 5 139742612 139742612 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:139742612G>A ENST00000230993.6 + 7 1030 c.995G>A c.(994-996)cGg>cAg p.R332Q SLC4A9_ENST00000507527.1_Missense_Mutation_p.R332Q|SLC4A9_ENST00000506757.2_Missense_Mutation_p.R308Q|SLC4A9_ENST00000506545.1_Missense_Mutation_p.R308Q|SLC4A9_ENST00000432095.2_Missense_Mutation_p.R308Q NM_001258428.1 NP_001245357.1 Q96Q91 B3A4_HUMAN solute carrier family 4, sodium bicarbonate cotransporter, member 9 332 integral to membrane|plasma membrane inorganic anion exchanger activity|sodium:bicarbonate symporter activity endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|prostate(1) 14 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CCAACAGCCCGGATTCCCCCG 0.577000 OREG0016461 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 27 57 0 0 1 0 0 ZNF826P 664701 broad.mit.edu 37 19 20607649 20607649 + RNA SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:20607649G>A ENST00000502675.1 - 0 113 NR_036455.1 large_intestine(4) 4 AATACCTGCAGGTCAAAGGGC 0.577000 16 27 0 0 1 0 0 NFATC1 4772 broad.mit.edu 37 18 77287543 77287543 + Missense_Mutation SNP G G A rs138427349 TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr18:77287543G>A ENST00000329101.4 + 10 2815 c.2759G>A c.(2758-2760)cGa>cAa p.R920Q NFATC1_ENST00000318065.5_3'UTR|NFATC1_ENST00000590172.1_3'UTR|NFATC1_ENST00000586434.1_Missense_Mutation_p.R690Q|NFATC1_ENST00000427363.2_Missense_Mutation_p.R933Q|NFATC1_ENST00000397790.2_3'UTR|NFATC1_ENST00000253506.5_3'UTR|NFATC1_ENST00000542384.1_Missense_Mutation_p.R703Q|NFATC1_ENST00000545796.1_Missense_Mutation_p.R461Q NM_001278669.1|NM_001278673.1|NM_172387.1 NP_001265598.1|NP_001265602.1|NP_765975.1 O95644 NFAC1_HUMAN nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1 933 Trans-activation domain B (TAD-B). intracellular signal transduction|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter cytoplasm|nucleus FK506 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(1)|soft_tissue(1) 40 Esophageal squamous(42;0.0157)|Melanoma(33;0.144) OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257) GAAATAATACGAAATGACCTC 0.428000 31 99 0 0 1 0 0 RP11-483E23.2 0 broad.mit.edu 37 15 28600104 28600104 + RNA SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr15:28600104C>T ENST00000568624.1 - 0 390 CCACTCACCTCTAGCTCCCTC 0.512000 15 75 0 0 1 0 0 ASB11 140456 broad.mit.edu 37 X 15301702 15301702 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chrX:15301702G>A ENST00000537676.1 - 7 906 c.834C>T c.(832-834)ctC>ctT p.L278L ASB11_ENST00000480796.1_Silent_p.L299L|ASB11_ENST00000344384.4_Silent_p.L278L|ASB11_ENST00000380470.3_Silent_p.L282L Q8WXH4 ASB11_HUMAN ankyrin repeat and SOCS box containing 11 299 SOCS box. intracellular signal transduction breast(2)|central_nervous_system(4)|endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|skin(1) 16 Hepatocellular(33;0.183) ATGCTCGACCGAGACACTTCC 0.512000 168 35 0 0 1 0 0 DNAJB7 150353 broad.mit.edu 37 22 41257704 41257704 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr22:41257704C>T ENST00000307221.4 - 1 426 c.295G>A c.(295-297)Gaa>Aaa p.E99K XPNPEP3_ENST00000357137.4_Intron|XPNPEP3_ENST00000482652.1_3'UTR|XPNPEP3_ENST00000414396.1_Intron|XPNPEP3_ENST00000541156.1_Intron NM_145174.1 NP_660157.1 Q7Z6W7 DNJB7_HUMAN DnaJ (Hsp40) homolog, subfamily B, member 7 99 protein folding heat shock protein binding|unfolded protein binding breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1) 10 TGAAAAATTTCTTTAAAAACA 0.383000 8 140 0 0 1 0 0 CFB 629 broad.mit.edu 37 6 31901651 31901651 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:31901651C>T ENST00000456570.1 + 4 493 c.438C>T c.(436-438)taC>taT p.Y146Y C2_ENST00000418949.2_Silent_p.Y208Y|C2_ENST00000452323.2_Silent_p.Y85Y|C2_ENST00000442278.2_Silent_p.Y76Y|C2_ENST00000299367.5_Silent_p.Y208Y|C2_ENST00000469372.1_Intron|CFB_ENST00000477310.1_Intron|CFB_ENST00000556679.1_Silent_p.Y146Y P00751 CFAB_HUMAN complement factor B 222 Sushi 2. complement activation, alternative pathway|proteolysis extracellular region|plasma membrane complement binding|serine-type endopeptidase activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1) 21 CAGAACCCTACTCTTATGACT 0.622000 30 112 0 0 1 0 0 TUSC3 7991 broad.mit.edu 37 8 15605946 15605946 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:15605946C>T ENST00000382020.4 + 9 1208 c.1000C>T c.(1000-1002)Cgt>Tgt p.R334C TUSC3_ENST00000506802.1_Intron|TUSC3_ENST00000503731.1_Missense_Mutation_p.R334C NM_178234.2 NP_839952.1 Q13454 TUSC3_HUMAN tumor suppressor candidate 3 334 cell redox homeostasis|post-translational protein modification|protein N-linked glycosylation via asparagine integral to membrane|oligosaccharyltransferase complex breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(10)|ovary(2) 28 Colorectal(111;0.113) TTCAATATTTCGTTCCAAGTA 0.318000 69 50 0 0 1 0 0 GRID1 2894 broad.mit.edu 37 10 87966213 87966213 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:87966213G>A ENST00000327946.7 - 3 513 c.428C>T c.(427-429)tCg>tTg p.S143L NM_017551.2 NP_060021.1 Q9ULK0 GRID1_HUMAN glutamate receptor, ionotropic, delta 1 143 cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5) 106 L-Glutamic Acid(DB00142) GGGTGGTCTCGAAGCCAGTGT 0.612000 Multiple Myeloma(13;0.14) 19 55 0 0 1 0 0 KIAA1210 57481 broad.mit.edu 37 X 118223270 118223270 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chrX:118223270C>T ENST00000402510.2 - 11 1922 c.1923G>A c.(1921-1923)atG>atA p.M641I NM_020721.1 NP_065772.1 Q9ULL0 K1210_HUMAN KIAA1210 641 breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 64 TGGAATTGTCCATGTTTTCAG 0.463000 3 37 0 0 1 0 0 ZNF560 147741 broad.mit.edu 37 19 9578076 9578076 + Missense_Mutation SNP A A T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:9578076A>T ENST00000301480.4 - 10 1760 c.1547T>A c.(1546-1548)tTt>tAt p.F516Y NM_152476.2 NP_689689.2 Q96MR9 ZN560_HUMAN zinc finger protein 560 516 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4) 65 GTAACACTTAAAGGGCTTCTC 0.408000 48 105 0 0 1 0 0 TDRD1 56165 broad.mit.edu 37 10 115970643 115970643 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:115970643C>T ENST00000251864.2 + 13 1730 c.1577C>T c.(1576-1578)tCc>tTc p.S526F TDRD1_ENST00000369280.1_Missense_Mutation_p.S526F|TDRD1_ENST00000369281.2_Missense_Mutation_p.S526F|TDRD1_ENST00000422662.1_Missense_Mutation_p.S187F|TDRD1_ENST00000369282.1_Missense_Mutation_p.S526F NM_198795.1 NP_942090.1 Q9BXT4 TDRD1_HUMAN tudor domain containing 1 526 DNA methylation involved in gamete generation|gene silencing by RNA|germ cell development|meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis pi-body nucleic acid binding|protein binding|zinc ion binding breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5) 48 Colorectal(252;0.172)|Breast(234;0.188) Epithelial(162;0.0343)|all cancers(201;0.0754) CTTCAGGCATCCCTTAGCAAG 0.383000 38 49 0 0 1 0 0 COL6A3 1293 broad.mit.edu 37 2 238244836 238244836 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:238244836G>A ENST00000295550.4 - 40 9359 c.8907C>T c.(8905-8907)gtC>gtT p.V2969V COL6A3_ENST00000472056.1_Silent_p.V2362V|COL6A3_ENST00000353578.4_Silent_p.V2763V|COL6A3_ENST00000346358.4_Silent_p.V2769V|COL6A3_ENST00000347401.3_Silent_p.V2768V|COL6A3_ENST00000409809.1_Silent_p.V2763V NM_004369.3 NP_004360.2 P12111 CO6A3_HUMAN collagen, type VI, alpha 3 2969 Ala-rich.|Nonhelical region. axon guidance|cell adhesion|muscle organ development collagen type VI|extracellular space serine-type endopeptidase inhibitor activity breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4) 217 Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203) Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034) GTGGCCTAGGGACCTCAGGCT 0.602000 34 77 0 0 1 0 0 COL17A1 1308 broad.mit.edu 37 10 105792440 105792440 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:105792440C>T ENST00000353479.5 - 55 4720 c.4430G>A c.(4429-4431)gGa>gAa p.G1477E COL17A1_ENST00000369733.3_Missense_Mutation_p.G1395E NM_000494.3 NP_000485.3 Q9UMD9 COHA1_HUMAN collagen, type XVII, alpha 1 1477 Triple-helical region. cell-matrix adhesion|epidermis development|hemidesmosome assembly basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane protein binding NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1) 62 Colorectal(252;0.103)|Breast(234;0.122) Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165) ACCTTTGTCTCCTTTTTCTCC 0.552000 11 136 0 0 1 0 0 RNF39 80352 broad.mit.edu 37 6 30043033 30043033 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:30043033G>A ENST00000244360.6 - 1 631 c.534C>T c.(532-534)atC>atT p.I178I RNF39_ENST00000376751.3_Silent_p.I178I NM_025236.3 NP_079512.2 Q9H2S5 RNF39_HUMAN ring finger protein 39 178 cytoplasm zinc ion binding CCATGGTGGGGATGCGCCCCC 0.711000 5 17 0 0 1 0 0 ADCY10 55811 broad.mit.edu 37 1 167849417 167849417 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:167849417G>A ENST00000367848.1 - 11 1373 c.876C>T c.(874-876)atC>atT p.I292I ADCY10_ENST00000367851.4_Silent_p.I384I|ADCY10_ENST00000545172.1_Silent_p.I231I Q96PN6 ADCYA_HUMAN adenylate cyclase 10 (soluble) 384 intracellular signal transduction|spermatogenesis cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction adenylate cyclase activity|ATP binding|magnesium ion binding autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1) 63 TGGCAACACCGATGGATACAG 0.488000 19 19 0 0 1 0 0 LRIT1 26103 broad.mit.edu 37 10 85991800 85991800 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:85991800C>T ENST00000372105.3 - 4 1776 c.1755G>A c.(1753-1755)gaG>gaA p.E585E NM_015613.2 NP_056428.1 Q9P2V4 LRIT1_HUMAN leucine-rich repeat, immunoglobulin-like and transmembrane domains 1 585 integral to endoplasmic reticulum membrane breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|skin(1) 23 GGGACAGCTCCTCCAAGCCGT 0.567000 15 38 0 0 1 0 0 DCC 1630 broad.mit.edu 37 18 50683792 50683792 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr18:50683792G>A ENST00000442544.2 + 8 1944 c.1328G>A c.(1327-1329)cGa>cAa p.R443Q DCC_ENST00000581580.1_Missense_Mutation_p.R98Q|DCC_ENST00000412726.1_Missense_Mutation_p.R291Q NM_005215.3 NP_005206.2 P43146 DCC_HUMAN deleted in colorectal carcinoma 443 Fibronectin type-III 1. apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development cytosol|integral to membrane p.R443Q(2) NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6) 148 all_cancers(7;0.11)|all_epithelial(6;0.00126) Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942) GTTTCCAGCCGATTTGTCCGT 0.527000 91 153 0 0 1 0 0 LCN2 3934 broad.mit.edu 37 9 130914193 130914193 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:130914193G>A ENST00000540948.1 + 4 437 c.364G>A c.(364-366)Gga>Aga p.G122R LCN2_ENST00000373017.1_Missense_Mutation_p.G122R|LCN2_ENST00000470902.1_3'UTR|LCN2_ENST00000277480.2_Missense_Mutation_p.G122R|LCN2_ENST00000372998.1_Missense_Mutation_p.G124R|LCN2_ENST00000373013.2_Missense_Mutation_p.G124R P80188 NGAL_HUMAN lipocalin 2 122 apoptosis|innate immune response|regulation of apoptosis|siderophore transport iron ion binding|transporter activity central_nervous_system(1)|lung(3)|prostate(2)|skin(1)|urinary_tract(1) 8 AGGTTACCCTGGATTAACGAG 0.562000 65 105 0 0 1 0 0 SRRM2 23524 broad.mit.edu 37 16 2817066 2817066 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr16:2817066C>T ENST00000301740.8 + 11 7086 c.6537C>T c.(6535-6537)tcC>tcT p.S2179S NM_016333.3 NP_057417.3 Q9UQ35 SRRM2_HUMAN serine/arginine repetitive matrix 2 2179 Ser-rich. Cajal body|catalytic step 2 spliceosome|nuclear speck C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7) 105 ATGCTCAGTCCAGGATTGCAC 0.577000 39 91 0 0 1 0 0 SLC8A1 6546 broad.mit.edu 37 2 40656722 40656722 + Nonsense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:40656722C>T ENST00000406785.1 - 2 888 c.699G>A c.(697-699)tgG>tgA p.W233* SLC8A1_ENST00000542756.1_Nonsense_Mutation_p.W233*|SLC8A1_ENST00000403092.1_Nonsense_Mutation_p.W233*|SLC8A1_ENST00000402441.1_Nonsense_Mutation_p.W233*|SLC8A1_ENST00000332839.4_Nonsense_Mutation_p.W233*|SLC8A1_ENST00000405269.1_Nonsense_Mutation_p.W233*|SLC8A1_ENST00000405901.3_Nonsense_Mutation_p.W233*|SLC8A1_ENST00000406391.2_Nonsense_Mutation_p.W233*|SLC8A1_ENST00000408028.2_Nonsense_Mutation_p.W233*|SLC8A1_ENST00000542024.1_Nonsense_Mutation_p.W233* P32418 NAC1_HUMAN solute carrier family 8 (sodium/calcium exchanger), member 1 233 cell communication|muscle contraction|platelet activation integral to plasma membrane calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2) 100 Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159) GCAAACCTTCCCAGACCTCCA 0.443000 39 60 0 0 1 0 0 CHST11 50515 broad.mit.edu 37 12 105151531 105151531 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:105151531G>A ENST00000303694.5 + 3 1448 c.1009G>A c.(1009-1011)Gat>Aat p.D337N CHST11_ENST00000549260.1_Missense_Mutation_p.D332N NM_018413.5 NP_060883.1 Q9NPF2 CHSTB_HUMAN carbohydrate (chondroitin 4) sulfotransferase 11 337 chondroitin sulfate biosynthetic process Golgi membrane|integral to membrane chondroitin 4-sulfotransferase activity|N-acetylgalactosamine 4-O-sulfotransferase activity breast(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(1) 18 CTACAAACTCGATTTTTTAAT 0.393000 28 65 0 0 1 0 0 CACNG5 27091 broad.mit.edu 37 17 64881341 64881341 + Missense_Mutation SNP C C T rs150302406 TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:64881341C>T ENST00000533854.1 + 6 1049 c.812C>T c.(811-813)tCc>tTc p.S271F CACNG5_ENST00000307139.3_Missense_Mutation_p.S271F Q9UF02 CCG5_HUMAN calcium channel, voltage-dependent, gamma subunit 5 271 SAGVMSVYLFMKRYTAEDMYRPHPGFYRPRLSNCSDYSGQF LHPDAWVRGRSPSDISSEASLQMNSNYPALLKCPDYDQMSS SPC -> VKPVTLSMDRLGLGTAPLSRGEWGWGRRDIPQPF WTPDHPLYFPSSSQNVSLSYLSGSPPARMSPGPCSCPHVHF PPHSSCVLCRPQPREMRQAPAASPSSAVFSL (in Ref. 1; AAF03089). regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|postsynaptic density|postsynaptic membrane voltage-gated calcium channel activity NS(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2) 24 BRCA - Breast invasive adenocarcinoma(6;1.61e-08) GATCAGATGTCCTCTTCACCC 0.647000 36 107 0 0 1 0 0 MARCH7 64844 broad.mit.edu 37 2 160604724 160604724 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:160604724C>T ENST00000259050.3 + 5 1045 c.923C>T c.(922-924)tCa>tTa p.S308L MARCH7_ENST00000539065.1_Missense_Mutation_p.S252L|MARCH7_ENST00000409591.1_Missense_Mutation_p.S270L|MARCH7_ENST00000409175.1_Missense_Mutation_p.S308L NM_022826.2 NP_073737.1 Q9H992 MARH7_HUMAN membrane-associated ring finger (C3HC4) 7, E3 ubiquitin protein ligase 308 Ser-rich. ligase activity|zinc ion binding breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|stomach(2) 18 AATACAAGATCATTGAATTCT 0.418000 31 58 0 0 1 0 0 C22orf29 79680 broad.mit.edu 37 22 19839507 19839507 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr22:19839507C>T ENST00000405640.1 - 2 946 c.278G>A c.(277-279)aGg>aAg p.R93K GNB1L_ENST00000460402.1_Intron|C22orf29_ENST00000328554.4_Missense_Mutation_p.R93K|C22orf29_ENST00000407472.1_Missense_Mutation_p.R93K|GNB1L_ENST00000405009.1_Intron|C22orf29_ENST00000484072.1_Intron|GNB1L_ENST00000329517.6_Intron|GNB1L_ENST00000403325.1_Intron Q7L3V2 CV029_HUMAN chromosome 22 open reading frame 29 93 NS(1)|large_intestine(1)|lung(3)|prostate(1)|urinary_tract(1) 7 Colorectal(54;0.0993) GAAGTCCACCCTGTGGGGTCG 0.617000 53 105 0 0 1 0 0 TOP3A 7156 broad.mit.edu 37 17 18186107 18186107 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:18186107G>A ENST00000321105.5 - 16 2140 c.1926C>T c.(1924-1926)gcC>gcT p.A642A TOP3A_ENST00000540524.1_Silent_p.A172A|TOP3A_ENST00000542570.1_Silent_p.A547A NM_004618.3 NP_004609.1 Q13472 TOP3A_HUMAN topoisomerase (DNA) III alpha 642 DNA topological change|meiosis chromosome|PML body ATP binding|DNA topoisomerase type I activity|protein binding|zinc ion binding breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(2)|urinary_tract(1) 36 CTTCTTGCTGGGCCAACTCTG 0.537000 8 205 0 0 1 0 0 UMODL1 89766 broad.mit.edu 37 21 43519065 43519065 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr21:43519065C>T ENST00000400427.1 + 7 1141 c.745C>T c.(745-747)Ctc>Ttc p.L249F UMODL1_ENST00000408910.2_Missense_Mutation_p.L321F|UMODL1_ENST00000408989.2_Missense_Mutation_p.L321F|UMODL1_ENST00000400424.1_Missense_Mutation_p.L249F NM_001199527.1 NP_001186456.1 Q5DID0 UROL1_HUMAN uromodulin-like 1 321 cytoplasm|extracellular region|integral to membrane|plasma membrane calcium ion binding|peptidase inhibitor activity breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 47 CTACGTGGTCCTCAACGTCAC 0.493000 64 159 0 0 1 0 0 OR8D4 338662 broad.mit.edu 37 11 123778063 123778063 + Missense_Mutation SNP A A T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:123778063A>T ENST00000321355.2 + 1 955 c.925A>T c.(925-927)Ata>Tta p.I309L NM_001005197.1 NP_001005197.1 Q8NGM9 OR8D4_HUMAN olfactory receptor, family 8, subfamily D, member 4 309 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(1)|lung(16)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 25 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.93e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0409) AAGAAGAAAAATATCTTTATC 0.264000 21 23 0 0 1 0 0 SFMBT1 51460 broad.mit.edu 37 3 52960053 52960053 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:52960053G>A ENST00000394752.3 - 10 1507 c.1125C>T c.(1123-1125)ttC>ttT p.F375F SFMBT1_ENST00000296295.6_Silent_p.F375F|SFMBT1_ENST00000358080.2_Silent_p.F375F|SFMBT1_ENST00000394750.1_Silent_p.F375F NM_016329.3 NP_057413.2 Q9UHJ3 SMBT1_HUMAN Scm-like with four mbt domains 1 375 regulation of transcription, DNA-dependent nucleus breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 24 BRCA - Breast invasive adenocarcinoma(193;9.91e-05)|Kidney(197;0.000644)|KIRC - Kidney renal clear cell carcinoma(197;0.000792)|OV - Ovarian serous cystadenocarcinoma(275;0.113) TCACCGGAGGGAAGCACCTCT 0.557000 81 163 0 0 1 0 0 IGHV3-53 28420 broad.mit.edu 37 14 107048882 107048882 + RNA SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr14:107048882G>A ENST00000390627.2 - 0 358 TACTGACGGTGAACCCAGAGG 0.587000 59 199 0 0 1 0 0 PKD1 5310 broad.mit.edu 37 16 2168223 2168223 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr16:2168223G>A ENST00000262304.4 - 5 978 c.770C>T c.(769-771)cCc>cTc p.P257L PKD1_ENST00000423118.1_Missense_Mutation_p.P257L NM_001009944.2 NP_001009944.2 P98161 PKD1_HUMAN polycystic kidney disease 1 (autosomal dominant) 257 WSC. calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway basolateral plasma membrane|integral to plasma membrane protein domain specific binding|sugar binding breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3) 72 CCTACAGGTGGGGGCAGGAGG 0.731000 7 6 0 0 1 0 0 OR13D1 286365 broad.mit.edu 37 9 107457298 107457298 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:107457298C>T ENST00000318763.5 + 1 639 c.596C>T c.(595-597)cCt>cTt p.P199L NM_001004484.1 NP_001004484.1 Q8NGV5 O13D1_HUMAN olfactory receptor, family 13, subfamily D, member 1 199 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(4)|lung(10)|ovary(1)|prostate(2)|skin(2) 19 ATGATGTTGCCTTTCTGTGGG 0.408000 46 137 0 0 1 0 0 ALMS1 7840 broad.mit.edu 37 2 73676407 73676407 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:73676407C>T ENST00000264448.6 + 8 2861 c.2750C>T c.(2749-2751)tCc>tTc p.S917F ALMS1_ENST00000377715.1_Missense_Mutation_p.S917F|ALMS1_ENST00000409009.1_Missense_Mutation_p.S875F NM_015120.4 NP_055935.4 Q8TCU4 ALMS1_HUMAN Alstrom syndrome 1 917 34 X 47 AA approximate tandem repeat. G2/M transition of mitotic cell cycle centrosome|cilium|cytosol|microtubule basal body|spindle pole breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 147 ATTATTTTTTCCCAGCAGACC 0.478000 52 125 0 0 1 0 0 CIDEC 63924 broad.mit.edu 37 3 9908883 9908883 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:9908883C>T ENST00000336832.2 - 6 791 c.652G>A c.(652-654)Gaa>Aaa p.E218K CIDEC_ENST00000430427.1_Missense_Mutation_p.E228K|CIDEC_ENST00000423850.1_Missense_Mutation_p.E144K|CIDEC_ENST00000383817.1_Missense_Mutation_p.G102E|CIDEC_ENST00000455015.1_Missense_Mutation_p.E144K|CIDEC_ENST00000443115.1_Missense_Mutation_p.G102E NM_001199552.1|NM_001199623.1|NM_022094.3 NP_001186481.1|NP_001186552.1|NP_071377.2 Q96AQ7 CIDEC_HUMAN cell death-inducing DFFA-like effector c 218 apoptosis|induction of apoptosis cytosol|focal adhesion|nucleus breast(2)|central_nervous_system(1)|endometrium(1)|lung(2)|ovary(1)|skin(1) 8 Medulloblastoma(99;0.227) GGCTGCCCTTCCTCCGTAGCA 0.597000 57 116 0 0 1 0 0 SLC10A1 6554 broad.mit.edu 37 14 70246069 70246069 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr14:70246069C>T ENST00000216540.4 - 3 709 c.576G>A c.(574-576)atG>atA p.M192I NM_003049.3 NP_003040.1 Q14973 NTCP_HUMAN solute carrier family 10 (sodium/bile acid cotransporter), member 1 192 bile acid metabolic process|organic anion transport integral to plasma membrane bile acid:sodium symporter activity NS(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1) 14 all cancers(60;0.00228)|BRCA - Breast invasive adenocarcinoma(234;0.0137)|OV - Ovarian serous cystadenocarcinoma(108;0.0226) GAATGATGATCATCCCTCCCT 0.488000 17 22 0 0 1 0 0 MYH13 8735 broad.mit.edu 37 17 10243690 10243690 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:10243690C>T ENST00000418404.3 - 16 2086 c.1923G>A c.(1921-1923)ggG>ggA p.G641G MYH13_ENST00000252172.4_Silent_p.G641G|MYH13_ENST00000570743.1_Silent_p.G641G|RP11-401O9.3_ENST00000577743.1_RNA Q9UKX3 MYH13_HUMAN myosin, heavy chain 13, skeletal muscle 641 Myosin head-like. muscle contraction muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|microfilament motor activity breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2) 108 CCTTCTTCTTCCCGCCCTTCT 0.552000 25 51 0 0 1 0 0 TRAF3IP3 80342 broad.mit.edu 37 1 209952659 209952659 + Splice_Site SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:209952659G>A ENST00000367024.1 + 14 1768 c.e14-1 TRAF3IP3_ENST00000400959.3_Intron|TRAF3IP3_ENST00000367023.1_Splice_Site|TRAF3IP3_ENST00000367025.3_Splice_Site|TRAF3IP3_ENST00000367026.3_Splice_Site|TRAF3IP3_ENST00000010338.4_Splice_Site|TRAF3IP3_ENST00000477431.1_Intron Q9Y228 T3JAM_HUMAN TRAF3 interacting protein 3 integral to membrane protein binding breast(2)|endometrium(1)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 32 OV - Ovarian serous cystadenocarcinoma(81;0.045) TTTTCCAACAGGTTTGCTTCA 0.328000 43 46 0 0 1 0 0 NPIPB11 728888 broad.mit.edu 37 16 29415043 29415043 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr16:29415043G>A ENST00000524087.1 - 2 155 c.81C>T c.(79-81)caC>caT p.H27H SNX29P2_ENST00000398878.3_lincRNA nuclear pore complex interacting protein family, member B11 p.H27H(24) CTGACTTTACGTGCTGCTGCA 0.577000 4 22 0 0 1 0 0 GIMAP1 170575 broad.mit.edu 37 7 150417638 150417638 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:150417638G>A ENST00000307194.5 + 3 686 c.546G>A c.(544-546)ggG>ggA p.G182G NM_130759.3 NP_570115.1 GTPase, IMAP family member 1 NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 28 OV - Ovarian serous cystadenocarcinoma(82;0.0145) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) CCGAGTGCGGGGGCCGGGTCT 0.672000 33 112 0 0 1 0 0 PLIN4 729359 broad.mit.edu 37 19 4513441 4513441 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:4513441C>T ENST00000301286.3 - 3 488 c.489G>A c.(487-489)acG>acA p.T163T NM_001080400.1 NP_001073869.1 Q96Q06 PLIN4_HUMAN perilipin 4 163 27 X 33 AA approximate tandem repeat. lipid particle|plasma membrane NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2) 41 TCACTGCCCCCGTGAGCCCAG 0.632000 56 126 0 0 1 0 0 SIGLECL1 284369 broad.mit.edu 37 19 51768682 51768682 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:51768682C>T ENST00000316401.7 + 3 464 c.83C>T c.(82-84)tCc>tTc p.S28F CTD-3187F8.2_ENST00000597569.1_RNA|SIGLECL1_ENST00000597824.1_Intron|SIGLECL1_ENST00000593968.1_Intron NM_173635.1 NP_775906.1 SIGLEC family like 1 TGCAGCTGTTCCTTCCATGGG 0.582000 42 86 0 0 1 0 0 HEG1 57493 broad.mit.edu 37 3 124728665 124728665 + Missense_Mutation SNP A A C TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:124728665A>C ENST00000311127.4 - 8 3144 c.3077T>G c.(3076-3078)gTg>gGg p.V1026G NM_020733.1 NP_065784.1 Q9ULI3 HEG1_HUMAN heart development protein with EGF-like domains 1 1026 EGF-like 2; calcium-binding (Potential). extracellular region|integral to membrane calcium ion binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(24)|ovary(2)|urinary_tract(4) 47 GCACTCATTCACATCTGTAGA 0.453000 4 28 0 0 1 0 0 FAM47C 442444 broad.mit.edu 37 X 37028981 37028981 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chrX:37028981C>T ENST00000358047.3 + 1 2550 c.2498C>T c.(2497-2499)tCa>tTa p.S833L NM_001013736.2 NP_001013758.1 Q5HY64 FA47C_HUMAN family with sequence similarity 47, member C 833 breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1) 120 GAAGGTACATCAAGCACAATG 0.517000 59 23 0 0 1 0 0 TTLL5 23093 broad.mit.edu 37 14 76211887 76211887 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr14:76211887C>T ENST00000298832.9 + 17 1655 c.1450C>T c.(1450-1452)Cgc>Tgc p.R484C TTLL5_ENST00000556893.1_Missense_Mutation_p.R22C|TTLL5_ENST00000554510.1_5'UTR|TTLL5_ENST00000555422.1_3'UTR|TTLL5_ENST00000557636.1_Missense_Mutation_p.R498C NM_015072.4 NP_055887.3 Q6EMB2 TTLL5_HUMAN tubulin tyrosine ligase-like family, member 5 484 protein modification process|transcription, DNA-dependent centrosome|cilium|microtubule basal body|nucleus tubulin-tyrosine ligase activity NS(2)|breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(3)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2) 50 BRCA - Breast invasive adenocarcinoma(234;0.029) TGGATTTATTCGCATATTTCC 0.353000 32 59 0 0 1 0 0 SIPA1L3 23094 broad.mit.edu 37 19 38673263 38673263 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:38673263C>T ENST00000222345.6 + 16 4822 c.4313C>T c.(4312-4314)tCc>tTc p.S1438F NM_015073.1 NP_055888.1 O60292 SI1L3_HUMAN signal-induced proliferation-associated 1 like 3 1438 regulation of small GTPase mediated signal transduction intracellular GTPase activator activity NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3) 59 Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292) TTTCAGCTCTCCGCCTCCGTC 0.632000 67 191 0 0 1 0 0 SCN7A 6332 broad.mit.edu 37 2 167263054 167263054 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:167263054C>T ENST00000409855.1 - 25 4211 c.4085G>A c.(4084-4086)gGa>gAa p.G1362E NM_002976.3 NP_002967.2 Q01118 SCN7A_HUMAN sodium channel, voltage-gated, type VII, alpha subunit 1362 muscle contraction voltage-gated sodium channel complex voltage-gated sodium channel activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1) 44 CACCTTTGGTCCTTTTCCAAG 0.448000 13 138 0 0 1 0 0 FAM65C 140876 broad.mit.edu 37 20 49214155 49214155 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr20:49214155C>T ENST00000327979.2 - 14 2151 c.1740G>A c.(1738-1740)ctG>ctA p.L580L FAM65C_ENST00000045083.2_Silent_p.L580L|FAM65C_ENST00000535356.1_Silent_p.L584L Q96MK2 FA65C_HUMAN family with sequence similarity 65, member C 580 L -> P (in dbSNP:rs6020624). endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(1)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 ACAGCTCATCCAGGGCGAAGT 0.652000 4 15 0 0 1 0 0 ISG20L2 81875 broad.mit.edu 37 1 156696914 156696914 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:156696914C>T ENST00000313146.6 - 1 1313 c.531G>A c.(529-531)cgG>cgA p.R177R ISG20L2_ENST00000368219.1_Silent_p.R177R NM_030980.1 NP_112242.1 Q9H9L3 I20L2_HUMAN interferon stimulated exonuclease gene 20kDa-like 2 177 ribosome biogenesis nucleolus exonuclease activity|nucleic acid binding|protein binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(1) 16 all_hematologic(923;0.088)|Hepatocellular(266;0.158) CCACCATCTTCCGTGGCAACT 0.493000 OREG0013885 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 9 302 0 0 1 0 0 AMER3 205147 broad.mit.edu 37 2 131522136 131522136 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:131522136G>A ENST00000423981.1 + 2 2601 c.2491G>A c.(2491-2493)Gaa>Aaa p.E831K AMER3_ENST00000321420.4_Missense_Mutation_p.E831K NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2 NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2 APC membrane recruitment protein 3 AAGTGCCCCAGAATGCCGCTG 0.667000 9 13 0 0 1 0 0 WNK1 65125 broad.mit.edu 37 12 977218 977218 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:977218C>T ENST00000537687.1 + 9 2969 c.2326C>T c.(2326-2328)Ctg>Ttg p.L776L WNK1_ENST00000574564.1_Silent_p.L75L|WNK1_ENST00000530271.2_Silent_p.L861L|WNK1_ENST00000315939.6_Intron|WNK1_ENST00000535572.1_Intron|WNK1_ENST00000340908.4_Intron NM_001184985.1|NM_213655.4 NP_001171914.1|NP_998820.3 Q9H4A3 WNK1_HUMAN WNK lysine deficient protein kinase 1 0 intracellular protein kinase cascade|ion transport|neuron development cytoplasm ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2) 104 all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632) Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197) CTTCCAACCCCTGCTGAGGAC 0.547000 61 117 0 0 1 0 0 SPATA16 83893 broad.mit.edu 37 3 172634262 172634262 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:172634262G>A ENST00000351008.3 - 9 1531 c.1348C>T c.(1348-1350)Cct>Tct p.P450S NM_031955.5 NP_114161.3 Q9BXB7 SPT16_HUMAN spermatogenesis associated 16 450 cell differentiation|multicellular organismal development|spermatogenesis Golgi apparatus binding breast(2)|cervix(1)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 43 Ovarian(172;0.00319)|Breast(254;0.197) LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14) GAGGATGCAGGAAAACTCCCC 0.473000 86 156 0 0 1 0 0 TUBG1 7283 broad.mit.edu 37 17 40765704 40765704 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:40765704G>A ENST00000251413.3 + 7 708 c.646G>A c.(646-648)Gac>Aac p.D216N NM_001070.4 NP_001061.2 P23258 TBG1_HUMAN tubulin, gamma 1 216 G2/M transition of mitotic cell cycle|meiotic spindle organization|protein polymerization condensed nuclear chromosome|cytosol|gamma-tubulin complex|polar microtubule GTP binding|GTPase activity|protein binding|structural constituent of cytoskeleton endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1) 12 Breast(137;0.00116) BRCA - Breast invasive adenocarcinoma(366;0.129) GATTGCCACAGACCGCCTGCA 0.572000 91 173 0 0 1 0 0 DCSTAMP 81501 broad.mit.edu 37 8 105361406 105361406 + Missense_Mutation SNP C C G TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:105361406C>G ENST00000297581.2 + 2 675 c.626C>G c.(625-627)tCc>tGc p.S209C DCSTAMP_ENST00000517991.1_Missense_Mutation_p.S209C|DPYS_ENST00000521601.1_Intron NM_030788.3 NP_110415.1 Q9H295 TM7S4_HUMAN dendrocyte expressed seven transmembrane protein 209 osteoclast differentiation cell surface|integral to membrane|plasma membrane GTGTTGTCCTCCCTGGGTCAG 0.537000 20 161 0 0 1 0 0 OR2K2 26248 broad.mit.edu 37 9 114090195 114090195 + Silent SNP G G A rs144434655 TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:114090195G>A ENST00000374428.1 - 1 605 c.606C>T c.(604-606)atC>atT p.I202I OR2K2_ENST00000302681.1_Silent_p.I173I Q8NGT1 OR2K2_HUMAN olfactory receptor, family 2, subfamily K, member 2 202 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(2) 20 TGAAGTGATCGATGAGATTCC 0.532000 39 64 0 0 1 0 0 KANSL1L 151050 broad.mit.edu 37 2 211018516 211018516 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:211018516G>A ENST00000281772.9 - 2 1054 c.791C>T c.(790-792)tCt>tTt p.S264F KANSL1L_ENST00000418791.1_Missense_Mutation_p.S264F|KANSL1L_ENST00000457374.1_Missense_Mutation_p.S264F|KANSL1L_ENST00000452086.1_Missense_Mutation_p.S264F NM_152519.2 NP_689732.2 A0AUZ9 CB067_HUMAN KAT8 regulatory NSL complex subunit 1-like 264 ATGTTTCATAGACAATTTCAT 0.373000 50 114 0 0 1 0 0 HEPACAM2 253012 broad.mit.edu 37 7 92826693 92826693 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:92826693C>T ENST00000394468.2 - 6 1233 c.1156G>A c.(1156-1158)Gaa>Aaa p.E386K HEPACAM2_ENST00000341723.4_Missense_Mutation_p.E374K|HEPACAM2_ENST00000492616.1_Intron|HEPACAM2_ENST00000453812.2_Missense_Mutation_p.E409K|HEPACAM2_ENST00000440868.1_Intron NM_001039372.1 NP_001034461.1 A8MVW5 HECA2_HUMAN HEPACAM family member 2 386 integral to membrane breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(4)|skin(1) 28 TACCTGCCTTCTAGTTTCTGT 0.269000 21 87 0 0 1 0 0 PKD2L1 9033 broad.mit.edu 37 10 102089731 102089731 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:102089731C>T ENST00000318222.3 - 1 512 c.130G>A c.(130-132)Ggg>Agg p.G44R PKD2L1_ENST00000353274.3_Missense_Mutation_p.G44R|PKD2L1_ENST00000338519.3_Missense_Mutation_p.G44R NM_001253837.1|NM_016112.2 NP_001240766.1|NP_057196.2 Q9P0L9 PK2L1_HUMAN polycystic kidney disease 2-like 1 44 signal transduction integral to membrane calcium activated cation channel activity|calcium ion binding|cytoskeletal protein binding NS(2)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1) 43 Colorectal(252;0.117) Epithelial(162;6.15e-10)|all cancers(201;5.14e-08) TGGAGAGGCCCCGTGCTGGAG 0.622000 56 92 0 0 1 0 0 UROC1 131669 broad.mit.edu 37 3 126208160 126208160 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:126208160C>T ENST00000290868.2 - 17 1720 c.1667G>A c.(1666-1668)aGg>aAg p.R556K UROC1_ENST00000383579.3_Missense_Mutation_p.R616K NM_144639.2 NP_653240.1 Q96N76 HUTU_HUMAN urocanate hydratase 1 556 histidine catabolic process cytosol urocanate hydratase activity p.R556M(1)|p.R616M(1) endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(1)|skin(1) 39 GBM - Glioblastoma multiforme(114;0.17) GGAGGTCTCCCTAAAGGGGCT 0.502000 53 130 0 0 1 0 0 SLC5A7 60482 broad.mit.edu 37 2 108622646 108622646 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:108622646G>A ENST00000264047.2 + 7 1159 c.883G>A c.(883-885)Gga>Aga p.G295R SLC5A7_ENST00000540517.1_Missense_Mutation_p.G190R|SLC5A7_ENST00000409059.1_Missense_Mutation_p.G295R NM_021815.2 NP_068587.1 Q9GZV3 SC5A7_HUMAN solute carrier family 5 (sodium/choline cotransporter), member 7 295 acetylcholine biosynthetic process|neurotransmitter secretion integral to membrane|plasma membrane choline:sodium symporter activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2) 49 Choline(DB00122) TGGGGCCATTGGAGCATCAAC 0.542000 4 130 0 0 1 0 0 CCNY 219771 broad.mit.edu 37 10 35818911 35818911 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:35818911G>A ENST00000374704.4 + 6 592 c.412G>A c.(412-414)Gga>Aga p.G138R CCNY_ENST00000265375.9_Missense_Mutation_p.G84R|CCNY_ENST00000339497.5_Missense_Mutation_p.G113R|CCNY_ENST00000374706.1_Missense_Mutation_p.G84R|CCNY_ENST00000492478.1_3'UTR NM_145012.4 NP_659449.3 Q8ND76 CCNY_HUMAN cyclin Y 138 cell division|G2/M transition of mitotic cell cycle|positive regulation of cyclin-dependent protein kinase activity|regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway cytoplasmic cyclin-dependent protein kinase holoenzyme complex|nucleus|plasma membrane cyclin-dependent protein kinase regulator activity|protein kinase binding cervix(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1) 8 GGACCCAGATGGAAGGATGCT 0.323000 83 143 0 0 1 0 0 PGLYRP4 57115 broad.mit.edu 37 1 153318661 153318661 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:153318661G>A ENST00000368739.3 - 3 414 c.56C>T c.(55-57)tCc>tTc p.S19F PGLYRP4_ENST00000359650.5_Missense_Mutation_p.S19F|PGLYRP4_ENST00000490266.1_5'UTR Q96LB8 PGRP4_HUMAN peptidoglycan recognition protein 4 19 defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process extracellular region|intracellular|membrane N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding breast(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1) 23 all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.171) GTTCCAGGAGGAATCACCTGC 0.478000 69 207 0 0 1 0 0 NPAP1 23742 broad.mit.edu 37 15 24921094 24921094 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr15:24921094C>T ENST00000329468.2 + 1 554 c.80C>T c.(79-81)cCc>cTc p.P27L NM_018958.2 NP_061831.2 nuclear pore associated protein 1 GCCCCCGCTCCCCTGTCCCGG 0.701000 10 17 0 0 1 0 0 EPHX2 2053 broad.mit.edu 37 8 27401346 27401346 + Splice_Site SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:27401346G>A ENST00000521400.1 + 17 1960 c.1530_splice c.e17+1 p.W510_splice EPHX2_ENST00000380476.3_Splice_Site_p.W457_splice|EPHX2_ENST00000518379.1_Splice_Site_p.W478_splice|EPHX2_ENST00000517536.1_Splice_Site_p.W327_splice|EPHX2_ENST00000521780.1_Splice_Site_p.W444_splice NM_001979.5 NP_001970.2 P34913 HYES_HUMAN epoxide hydrolase 2, cytoplasmic 510 Epoxide hydrolase. aromatic compound catabolic process|cellular calcium ion homeostasis|drug metabolic process|inflammatory response|positive regulation of vasodilation|reactive oxygen species metabolic process|regulation of blood pressure|response to toxin|xenobiotic metabolic process cytosol|focal adhesion|Golgi apparatus|nucleolus|peroxisome|soluble fraction epoxide hydrolase activity|metal ion binding|protein homodimerization activity cervix(1)|endometrium(8)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(5)|stomach(1)|urinary_tract(1) 27 Ovarian(32;2.61e-05)|all_epithelial(46;0.207) UCEC - Uterine corpus endometrioid carcinoma (27;0.0226)|Epithelial(17;1.12e-09)|Colorectal(74;0.157) Tamoxifen(DB00675) TGGAGGACTGGGTGAGGGAAT 0.597000 8 97 0 0 1 0 0 PCDHA6 56142 broad.mit.edu 37 5 140210043 140210043 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:140210043G>A ENST00000529310.1 + 1 2481 c.2367G>A c.(2365-2367)caG>caA p.Q789Q PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron NM_018909.2|NM_031848.1|NM_031849.1 NP_061732.1|NP_114036.1|NP_114037.1 NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 89 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CGGAGAATCAGGATTTAAATG 0.388000 43 83 0 0 1 0 0 TAF4 6874 broad.mit.edu 37 20 60582654 60582654 + Missense_Mutation SNP T T A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr20:60582654T>A ENST00000252996.3 - 6 1922 c.1923A>T c.(1921-1923)ttA>ttT p.L641F NM_003185.3 NP_003176.2 O00268 TAF4_HUMAN TAF4 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 135kDa 641 TAFH. interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 37 Breast(26;1e-08) BRCA - Breast invasive adenocarcinoma(19;3.1e-07) GTTCTCGGTATAACCTGCTTG 0.438000 12 226 0 0 1 0 0 FCHO1 23149 broad.mit.edu 37 19 17895692 17895692 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:17895692G>A ENST00000594202.1 + 26 2664 c.2385G>A c.(2383-2385)ggG>ggA p.G795G FCHO1_ENST00000596951.1_Silent_p.G795G|FCHO1_ENST00000389133.4_Silent_p.G795G|FCHO1_ENST00000595033.1_Silent_p.G745G|FCHO1_ENST00000600676.1_Silent_p.G795G|FCHO1_ENST00000597512.1_Silent_p.G802G|FCHO1_ENST00000539407.1_Silent_p.G795G|FCHO1_ENST00000252771.7_Silent_p.G795G|FCHO1_ENST00000596536.1_Silent_p.G795G NM_001161357.1 NP_001154829.1 O14526 FCHO1_HUMAN FCH domain only 1 795 NS(2)|breast(1)|large_intestine(6)|liver(1)|lung(12) 22 TGCCTGTGGGGGAGCCTGTGA 0.647000 OREG0025350 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 51 89 0 0 1 0 0 ITK 3702 broad.mit.edu 37 5 156659399 156659399 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:156659399G>A ENST00000422843.3 + 8 915 c.763G>A c.(763-765)Gac>Aac p.D255N NM_005546.3 NP_005537.3 Q08881 ITK_HUMAN IL2-inducible T-cell kinase 255 SH2. cellular defense response|intracellular signal transduction|T cell receptor signaling pathway cytosol|plasma membrane ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(25)|ovary(8)|prostate(2)|skin(7)|stomach(2)|upper_aerodigestive_tract(1) 70 Renal(175;0.00212) Medulloblastoma(196;0.0354)|all_neural(177;0.1) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) ACTTCTTTTGGACACAGTAAG 0.378000 T SYK peripheral T-cell lymphoma 12 21 0 0 1 0 0 ZCWPW1 55063 broad.mit.edu 37 7 99998778 99998778 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:99998778G>A ENST00000398027.2 - 18 2053 c.1806C>T c.(1804-1806)gtC>gtT p.V602V ZCWPW1_ENST00000324725.6_Silent_p.V431V|ZCWPW1_ENST00000490721.1_Silent_p.V431V|ZCWPW1_ENST00000360951.4_3'UTR NM_017984.4 NP_060454.3 Q9H0M4 ZCPW1_HUMAN zinc finger, CW type with PWWP domain 1 602 zinc ion binding breast(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1) 16 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) CCTCAAGGGGGACACTTCCAG 0.612000 33 70 0 0 1 0 0 TFAP2D 83741 broad.mit.edu 37 6 50683113 50683113 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:50683113G>A ENST00000008391.3 + 2 552 c.324G>A c.(322-324)ggG>ggA p.G108G NM_172238.3 NP_758438.2 Q7Z6R9 AP2D_HUMAN transcription factor AP-2 delta (activating enhancer binding protein 2 delta) 108 DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(26)|ovary(6)|pancreas(1)|prostate(5)|stomach(1) 60 Lung NSC(77;0.0334) TCCACCACGGGGAGCCCACCG 0.622000 45 150 0 0 1 0 0 HHATL 57467 broad.mit.edu 37 3 42735116 42735116 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:42735116C>T ENST00000441594.1 - 10 1502 c.1241G>A c.(1240-1242)cGa>cAa p.R414Q HHATL_ENST00000310417.5_Missense_Mutation_p.R414Q NM_020707.3 NP_065758.3 Q9HCP6 HHATL_HUMAN hedgehog acyltransferase-like 414 negative regulation of N-terminal protein palmitoylation endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(3)|prostate(3) 19 KIRC - Kidney renal clear cell carcinoma(284;0.215) CACCTCAATTCGTGCTAGGGG 0.577000 11 28 0 0 1 0 0 TRPV5 56302 broad.mit.edu 37 7 142626578 142626578 + Silent SNP A A G TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:142626578A>G ENST00000265310.1 - 4 780 c.432T>C c.(430-432)tcT>tcC p.S144S TRPV5_ENST00000442623.1_Silent_p.S144S NM_019841.4 NP_062815.2 Q9NQA5 TRPV5_HUMAN transient receptor potential cation channel, subfamily V, member 5 144 protein tetramerization apical plasma membrane|integral to plasma membrane calcium channel activity NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 67 Melanoma(164;0.059) TGGCTCTGGCAGAGACACTGG 0.612000 23 187 0 0 1 0 0 MTHFR 4524 broad.mit.edu 37 1 11851286 11851286 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:11851286G>A ENST00000376592.1 - 10 1858 c.1730C>T c.(1729-1731)cCc>cTc p.P577L MTHFR_ENST00000376585.1_Missense_Mutation_p.P618L|MTHFR_ENST00000376583.3_Missense_Mutation_p.P618L|MTHFR_ENST00000376590.3_Missense_Mutation_p.P577L P42898 MTHR_HUMAN methylenetetrahydrofolate reductase (NAD(P)H) 577 blood circulation|folic acid metabolic process cytosol methylenetetrahydrofolate reductase (NADPH) activity|protein binding NS(4)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 33 Ovarian(185;0.249) Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00826)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649) Benazepril(DB00542)|Cyanocobalamin(DB00115)|Folic Acid(DB00158)|L-Methionine(DB00134)|Menadione(DB00170)|Methotrexate(DB00563)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)|Raltitrexed(DB00293)|Riboflavin(DB00140)|S-Adenosylmethionine(DB00118)|Tetrahydrofolic acid(DB00116) GAAGCTGACGGGATCCACTAC 0.592000 29 72 0 0 1 0 0 IL36RN 26525 broad.mit.edu 37 2 113820142 113820142 + Nonsense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:113820142G>A ENST00000393200.2 + 5 517 c.356G>A c.(355-357)tGg>tAg p.W119* IL36RN_ENST00000346807.3_Nonsense_Mutation_p.W119* NM_012275.2 NP_036407.1 Q9UBH0 I36RA_HUMAN interleukin 36 receptor antagonist 119 extracellular space cytokine activity|interleukin-1 receptor antagonist activity large_intestine(3)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 11 TACCCGGGCTGGTTCCTGTGC 0.592000 35 75 0 0 1 0 0 OR6C2 341416 broad.mit.edu 37 12 55846490 55846490 + Missense_Mutation SNP G G A rs140332483 TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:55846490G>A ENST00000322678.1 + 1 493 c.493G>A c.(493-495)Gaa>Aaa p.E165K RP11-110A12.2_ENST00000555138.1_RNA|RP11-110A12.2_ENST00000556750.1_RNA|RP11-110A12.2_ENST00000555146.1_RNA|RP11-110A12.2_ENST00000554049.1_RNA NM_054105.1 NP_473446.1 Q9NZP2 OR6C2_HUMAN olfactory receptor, family 6, subfamily C, member 2 165 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.E165K(1) kidney(2)|large_intestine(5)|lung(8)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 23 CCTCCAGCTCGAATTCTGTGA 0.448000 55 108 0 0 1 0 0 SERPING1 710 broad.mit.edu 37 11 57381808 57381808 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:57381808C>T ENST00000403558.1 + 7 1752 c.1386C>T c.(1384-1386)ttC>ttT p.F462F SERPING1_ENST00000378323.4_Silent_p.F424F|SERPING1_ENST00000378324.2_Silent_p.F367F|SERPING1_ENST00000278407.4_Silent_p.F419F|SERPING1_ENST00000340687.6_Silent_p.F382F NM_001032295.1 NP_001027466.1 P05155 IC1_HUMAN serpin peptidase inhibitor, clade G (C1 inhibitor), member 1 419 blood circulation|blood coagulation, intrinsic pathway|complement activation, classical pathway|innate immune response|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation extracellular space|platelet alpha granule lumen protein binding|serine-type endopeptidase inhibitor activity central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|pancreas(2)|prostate(1)|urinary_tract(1) 27 TAGAATTCTTCGATTTTTCTT 0.483000 40 122 0 0 1 0 0 ZNF600 162966 broad.mit.edu 37 19 53269305 53269305 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:53269305G>A ENST00000338230.3 - 3 1971 c.1704C>T c.(1702-1704)tcC>tcT p.S568S NM_198457.2 NP_940859.2 Q6ZNG1 ZN600_HUMAN zinc finger protein 600 568 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(2)|kidney(4)|large_intestine(9)|liver(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1) 30 OV - Ovarian serous cystadenocarcinoma(262;0.0241)|GBM - Glioblastoma multiforme(134;0.0404) GGTGAACAAGGGATGGCTTGT 0.438000 7 379 0 0 1 0 0 CDC20B 166979 broad.mit.edu 37 5 54424281 54424281 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:54424281G>A ENST00000334206.5 - 7 1038 c.862C>T c.(862-864)Ctg>Ttg p.L288L CDC20B_ENST00000322374.6_Silent_p.L288L|CDC20B_ENST00000296733.1_Silent_p.L288L|CDC20B_ENST00000381375.2_Silent_p.L288L Q86Y33 CD20B_HUMAN cell division cycle 20B 288 kidney(1)|large_intestine(5)|lung(7)|skin(2)|stomach(3)|upper_aerodigestive_tract(1) 19 Lung NSC(810;0.000744)|Breast(144;0.159)|Prostate(74;0.194) LUSC - Lung squamous cell carcinoma(15;0.225) CCAACTGCCAGGCAAGTTCCC 0.398000 40 52 0 0 1 0 0 SERPINA5 5104 broad.mit.edu 37 14 95053795 95053795 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr14:95053795G>A ENST00000329597.7 + 3 306 c.96G>A c.(94-96)gaG>gaA p.E32E SERPINA5_ENST00000554866.1_Silent_p.E32E|SERPINA5_ENST00000553780.1_Silent_p.E32E|SERPINA5_ENST00000554276.1_Silent_p.E32E NM_000624.4 NP_000615.3 P05154 IPSP_HUMAN serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5 32 fusion of sperm to egg plasma membrane|regulation of proteolysis|spermatogenesis extracellular region|membrane|protein complex acrosin binding|heparin binding|protease binding|serine-type endopeptidase inhibitor activity endometrium(3)|large_intestine(5)|lung(18)|ovary(2)|skin(5)|upper_aerodigestive_tract(3) 36 COAD - Colon adenocarcinoma(157;0.21) Drotrecogin alfa(DB00055)|Urokinase(DB00013) AGAGAGTCGAGGACCTCCATG 0.627000 25 93 0 0 1 0 0 INA 9118 broad.mit.edu 37 10 105036984 105036984 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:105036984G>A ENST00000369849.4 + 1 65 c.16G>A c.(16-18)Gag>Aag p.E6K NM_032727.3 NP_116116.1 Q16352 AINX_HUMAN internexin neuronal intermediate filament protein, alpha 6 Head. cell differentiation|nervous system development neurofilament structural constituent of cytoskeleton breast(2)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(2) 13 Epithelial(162;3.45e-09)|all cancers(201;9.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.198) CTTCGGCTCGGAGCACTACCT 0.716000 8 62 0 0 1 0 0 TBC1D9B 23061 broad.mit.edu 37 5 179305320 179305320 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:179305320C>T ENST00000356834.3 - 10 1808 c.1771G>A c.(1771-1773)Ggc>Agc p.G591S TBC1D9B_ENST00000355235.3_Missense_Mutation_p.G591S NM_198868.2 NP_942568.2 Q66K14 TBC9B_HUMAN TBC1 domain family, member 9B (with GRAM domain) 591 Rab-GAP TBC. integral to membrane|intracellular calcium ion binding|Rab GTPase activator activity breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 28 all_cancers(89;0.000197)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243) all_cancers(40;0.0236)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) TGGCAGTAGCCGATGGTGGGG 0.652000 10 17 0 0 1 0 0 PAPPA2 60676 broad.mit.edu 37 1 176681028 176681028 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:176681028C>T ENST00000367662.3 + 12 4873 c.3709C>T c.(3709-3711)Ccc>Tcc p.P1237S NM_020318.2 NP_064714.2 Q9BXP8 PAPP2_HUMAN pappalysin 2 1237 cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1) 226 TGGCTGGTTTCCCTGTGTTGC 0.458000 63 81 0 0 1 0 0 ZNF529 57711 broad.mit.edu 37 19 37038298 37038298 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:37038298G>A ENST00000334116.7 - 6 1457 c.847C>T c.(847-849)Cat>Tat p.H283Y ZNF529_ENST00000591340.1_Missense_Mutation_p.H388Y NM_001145650.1 NP_001139122.1 Q6P280 ZN529_HUMAN zinc finger protein 529 355 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1) 1 Esophageal squamous(110;0.198) TTACCAGTATGAATTCTCTGA 0.403000 72 120 0 0 1 0 0 KCTD11 147040 broad.mit.edu 37 17 7256415 7256415 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:7256415G>A ENST00000333751.3 + 1 1208 c.154G>A c.(154-156)Gga>Aga p.G52R RP11-542C16.1_ENST00000572417.1_RNA NM_001002914.2 NP_001002914.1 Q693B1 KCD11_HUMAN potassium channel tetramerization domain containing 11 52 cell cycle|regulation of growth voltage-gated potassium channel complex voltage-gated potassium channel activity kidney(1)|large_intestine(2)|lung(1) 4 Prostate(122;0.157) CCGTGGGTACGGAGAGACAGC 0.667000 17 44 0 0 1 0 0 GRIA4 2893 broad.mit.edu 37 11 105769034 105769034 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:105769034G>A ENST00000393127.2 + 7 1212 c.766G>A c.(766-768)Gga>Aga p.G256R GRIA4_ENST00000530497.1_Missense_Mutation_p.G256R|GRIA4_ENST00000282499.5_Missense_Mutation_p.G256R|GRIA4_ENST00000428631.2_Missense_Mutation_p.G256R|GRIA4_ENST00000393125.2_Missense_Mutation_p.G256R|GRIA4_ENST00000525187.1_Missense_Mutation_p.G256R NM_001077243.2 NP_001070711.2 P48058 GRIA4_HUMAN glutamate receptor, ionotropic, AMPA 4 256 glutamate signaling pathway|synaptic transmission cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6) 82 Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323) BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899) L-Glutamic Acid(DB00142) TATACATGGTGGAGCCAATGT 0.343000 27 31 0 0 1 0 0 SPHKAP 80309 broad.mit.edu 37 2 228883793 228883793 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:228883793C>T ENST00000392056.3 - 7 1823 c.1777G>A c.(1777-1779)Gct>Act p.A593T SPHKAP_ENST00000344657.5_Missense_Mutation_p.A593T NM_001142644.1 NP_001136116.1 Q2M3C7 SPKAP_HUMAN SPHK1 interactor, AKAP domain containing 593 cytoplasm protein binding NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 185 Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23) Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232) GAAGCCTCAGCTGCAGGCGGG 0.577000 28 57 0 0 1 0 0 UNC13C 440279 broad.mit.edu 37 15 54685270 54685270 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr15:54685270G>A ENST00000545554.1 + 17 4738 c.4738G>A c.(4738-4740)Gaa>Aaa p.E1580K UNC13C_ENST00000260323.11_Missense_Mutation_p.E1580K|UNC13C_ENST00000537900.1_Missense_Mutation_p.E1578K Q8NB66 UN13C_HUMAN unc-13 homolog C (C. elegans) 1580 exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4) 121 GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124) TATTCCTCGTGAAGATCAGGG 0.393000 44 55 0 0 1 0 0 DOCK3 1795 broad.mit.edu 37 3 51395194 51395194 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:51395194C>T ENST00000266037.9 + 45 4712 c.4689C>T c.(4687-4689)ttC>ttT p.F1563F NM_004947.4 NP_004938.1 Q8IZD9 DOCK3_HUMAN dedicator of cytokinesis 3 1563 DHR-2. cytoplasm GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1) 45 BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518) CACAGGCCTTCTTTGATAAAG 0.493000 30 74 0 0 1 0 0 AGTR1 185 broad.mit.edu 37 3 148459393 148459393 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:148459393C>T ENST00000542281.1 + 4 1017 c.571C>T c.(571-573)Ctc>Ttc p.L191F AGTR1_ENST00000404754.2_Missense_Mutation_p.L191F|AGTR1_ENST00000474935.1_Missense_Mutation_p.L191F|AGTR1_ENST00000402260.1_Missense_Mutation_p.L191F|AGTR1_ENST00000461609.1_Missense_Mutation_p.L191F|AGTR1_ENST00000497524.1_Missense_Mutation_p.L191F|AGTR1_ENST00000418473.2_Missense_Mutation_p.L191F|AGTR1_ENST00000349243.3_Missense_Mutation_p.L191F|AGTR1_ENST00000475347.1_Missense_Mutation_p.L191F NM_031850.3 NP_114038.4 P30556 AGTR1_HUMAN angiotensin II receptor, type 1 191 calcium-mediated signaling|cell chemotaxis|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|kidney development|low-density lipoprotein particle remodeling|positive regulation of cellular protein metabolic process|positive regulation of cholesterol esterification|positive regulation of inflammatory response|positive regulation of NAD(P)H oxidase activity|positive regulation of phospholipase A2 activity|positive regulation of reactive oxygen species metabolic process|regulation of cell growth|regulation of cell proliferation|regulation of renal sodium excretion|regulation of vasoconstriction|renin-angiotensin regulation of aldosterone production|Rho protein signal transduction acetyltransferase activator activity|angiotensin type I receptor activity|angiotensin type II receptor activity|bradykinin receptor binding|protein heterodimerization activity breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 30 LUSC - Lung squamous cell carcinoma(72;0.127)|Lung(72;0.152) Candesartan(DB00796)|Eprosartan(DB00876)|Forasartan(DB01342)|Irbesartan(DB01029)|Losartan(DB00678)|Olmesartan(DB00275)|Saprisartan(DB01347)|Spironolactone(DB00421)|Tasosartan(DB01349)|Telmisartan(DB00966)|Valsartan(DB00177) AAATTCAACCCTCCCGATAGG 0.393000 27 56 0 0 1 0 0 TSPAN5 10098 broad.mit.edu 37 4 99579324 99579324 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:99579324G>A ENST00000305798.3 - 1 456 c.54C>T c.(52-54)ttC>ttT p.F18F NM_005723.3 NP_005714.2 P62079 TSN5_HUMAN tetraspanin 5 18 integral to membrane kidney(2)|large_intestine(6)|lung(5)|upper_aerodigestive_tract(1) 14 OV - Ovarian serous cystadenocarcinoma(123;1.89e-07) AGCCAAATATGAAGTATTTGA 0.507000 62 114 0 0 1 0 0 BZRAP1 9256 broad.mit.edu 37 17 56389646 56389646 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:56389646C>T ENST00000355701.3 - 17 3406 c.2536G>A c.(2536-2538)Gag>Aag p.E846K BZRAP1_ENST00000343736.4_Missense_Mutation_p.E846K|BZRAP1_ENST00000268893.6_Missense_Mutation_p.E786K NM_001261835.1|NM_004758.3 NP_001248764.1|NP_004749.2 O95153 RIMB1_HUMAN benzodiazapine receptor (peripheral) associated protein 1 846 Fibronectin type-III 1. mitochondrion benzodiazepine receptor binding cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 54 Medulloblastoma(34;0.127)|all_neural(34;0.237) TCCAGGTTCTCCAGCACGGCC 0.667000 18 62 0 0 1 0 0 MYO3B 140469 broad.mit.edu 37 2 171371499 171371499 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:171371499G>A ENST00000334231.6 + 29 3466 c.3466G>A c.(3466-3468)Gtt>Att p.V1156I MYO3B_ENST00000408978.4_Missense_Mutation_p.V1147I|MYO3B_ENST00000602629.1_3'UTR|MYO3B_ENST00000409044.3_Missense_Mutation_p.V1120I Q8WXR4 MYO3B_HUMAN myosin IIIB 1147 response to stimulus|visual perception cytoplasm|myosin complex actin binding|ATP binding|motor activity|protein serine/threonine kinase activity breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 59 AAGTGCCGAGGTTCAAGACTG 0.502000 18 37 0 0 1 0 0 TLE6 79816 broad.mit.edu 37 19 2989155 2989155 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:2989155G>A ENST00000246112.4 + 12 1038 c.837G>A c.(835-837)aaG>aaA p.K279K TLE6_ENST00000452088.1_Silent_p.K156K|TLE6_ENST00000478073.2_3'UTR NM_001143986.1 NP_001137458.1 Q9H808 TLE6_HUMAN transducin-like enhancer of split 6 (E(sp1) homolog, Drosophila) 156 regulation of transcription, DNA-dependent nucleus breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|urinary_tract(1) 10 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) AACTGGAAAAGATGCGGATCT 0.592000 35 49 0 0 1 0 0 HYKK 123688 broad.mit.edu 37 15 78805534 78805534 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr15:78805534C>T ENST00000566332.1 + 2 164 c.104C>T c.(103-105)tCc>tTc p.S35F HYKK_ENST00000569878.1_Missense_Mutation_p.S35F|HYKK_ENST00000563233.1_Missense_Mutation_p.S35F|HYKK_ENST00000360519.3_Missense_Mutation_p.S35F|HYKK_ENST00000408962.2_Missense_Mutation_p.S35F|HYKK_ENST00000388988.4_Missense_Mutation_p.S35F hydroxylysine kinase TTGAAAGTTTCCAAGGTCCGG 0.443000 35 70 0 0 1 0 0 IGKV1-17 28937 broad.mit.edu 37 2 89417092 89417092 + RNA SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:89417092G>A ENST00000490686.1 - 0 118 AGACAGGGAGGATGGAGACTG 0.458000 102 204 0 0 1 0 0 C10orf54 64115 broad.mit.edu 37 10 73521477 73521477 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:73521477G>A ENST00000394957.3 - 2 447 c.389C>T c.(388-390)tCc>tTc p.S130F C10orf54_ENST00000481568.1_5'UTR|CDH23_ENST00000224721.6_Intron NM_022153.1 NP_071436.1 Q9H7M9 GI24_HUMAN chromosome 10 open reading frame 54 130 Ig-like. integral to membrane receptor activity breast(1)|central_nervous_system(2)|endometrium(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 9 CATGGTGATGGAGAAGTTGCC 0.647000 25 46 0 0 1 0 0 AGT 183 broad.mit.edu 37 1 230846242 230846242 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:230846242C>T ENST00000366667.4 - 2 569 c.355G>A c.(355-357)Ggc>Agc p.G119S NM_000029.3 NP_000020.1 P01019 ANGT_HUMAN angiotensinogen (serpin peptidase inhibitor, clade A, member 8) 119 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|blood vessel remodeling|cell-cell signaling|cellular lipid metabolic process|G-protein signaling, coupled to cGMP nucleotide second messenger|kidney development|low-density lipoprotein particle remodeling|negative regulation of nerve growth factor receptor signaling pathway|nitric oxide mediated signal transduction|positive regulation of activation of JAK2 kinase activity|positive regulation of apoptosis|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of cardiac muscle hypertrophy|positive regulation of cholesterol esterification|positive regulation of cytokine production|positive regulation of endothelial cell migration|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of fibroblast proliferation|positive regulation of inflammatory response|positive regulation of NAD(P)H oxidase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein tyrosine kinase activity|positive regulation of reactive oxygen species metabolic process|positive regulation of transcription, DNA-dependent|regulation of proteolysis|regulation of renal output by angiotensin|regulation of renal sodium excretion|regulation of vasoconstriction|renin-angiotensin regulation of aldosterone production|response to muscle activity involved in regulation of muscle adaptation extracellular space|soluble fraction acetyltransferase activator activity|growth factor activity|hormone activity|serine-type endopeptidase inhibitor activity|type 1 angiotensin receptor binding|type 2 angiotensin receptor binding endometrium(5)|kidney(1)|large_intestine(6)|lung(7)|pancreas(1)|prostate(5) 25 Breast(184;0.0735)|Ovarian(103;0.183) all_cancers(173;4.64e-23)|all_epithelial(177;3.61e-18)|Breast(1374;0.00093)|all_neural(198;0.0604)|Prostate(94;0.167) GBM - Glioblastoma multiforme(131;4.4e-06)|Colorectal(1306;5.46e-06)|COAD - Colon adenocarcinoma(196;0.000256)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) Aliskiren(DB01258)|Atorvastatin(DB01076)|Cilazapril(DB01340)|Irbesartan(DB01029)|Lisinopril(DB00722)|Ouabain(DB01092)|Simvastatin(DB00641) CTGTGCATGCCATATATACGG 0.587000 82 123 0 0 1 0 0 P2RY14 9934 broad.mit.edu 37 3 150932129 150932129 + Splice_Site SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:150932129C>T ENST00000309170.3 - 3 289 c.e3-1 P2RY14_ENST00000424796.2_Splice_Site|MED12L_ENST00000273432.4_Intron|MED12L_ENST00000474524.1_Intron NM_001081455.1|NM_014879.3 NP_001074924.1|NP_055694.3 Q15391 P2Y14_HUMAN purinergic receptor P2Y, G-protein coupled, 14 integral to membrane|plasma membrane purinergic nucleotide receptor activity, G-protein coupled|UDP-activated nucleotide receptor activity breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(1) 20 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) AGGCAGAGGCCTGAAAAGAGG 0.458000 23 50 0 0 1 0 0 PAOX 196743 broad.mit.edu 37 10 135205030 135205030 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:135205030C>T ENST00000357296.3 + 6 1505 c.1449C>T c.(1447-1449)ttC>ttT p.F483F PAOX_ENST00000368539.4_3'UTR|PAOX_ENST00000368535.2_3'UTR|RP11-108K14.8_ENST00000468317.2_Intron|PAOX_ENST00000278060.5_3'UTR|PAOX_ENST00000480071.2_3'UTR NM_207128.1 NP_997011.1 Q6QHF9 PAOX_HUMAN polyamine oxidase (exo-N4-amino) 0 polyamine biosynthetic process|xenobiotic metabolic process peroxisomal matrix polyamine oxidase activity cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|urinary_tract(2) 23 all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203) all cancers(32;4.39e-07)|OV - Ovarian serous cystadenocarcinoma(35;1.21e-06)|Epithelial(32;1.94e-06) TGACAGATTTCAGTCTGGCTT 0.552000 11 20 0 0 1 0 0 IL26 55801 broad.mit.edu 37 12 68595658 68595658 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:68595658G>A ENST00000229134.4 - 5 547 c.483C>T c.(481-483)tcC>tcT p.S161S IFNG-AS1_ENST00000536914.1_RNA NM_018402.1 NP_060872.1 Q9NPH9 IL26_HUMAN interleukin 26 161 cell-cell signaling|negative regulation of epithelial cell proliferation|positive regulation of cytokine secretion|positive regulation of ERK1 and ERK2 cascade|positive regulation of JAK-STAT cascade|positive regulation of protein kinase B signaling cascade|positive regulation of stress-activated MAPK cascade|positive regulation of transcription from RNA polymerase II promoter cytosol|extracellular space|soluble fraction cytokine activity endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(1) 12 Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018) GBM - Glioblastoma multiforme(7;0.000515) TTTTAATCCAGGAAAGAAGAA 0.289000 37 67 0 0 1 0 0 ZNF804B 219578 broad.mit.edu 37 7 88964218 88964218 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:88964218C>T ENST00000333190.4 + 4 2531 c.1922C>T c.(1921-1923)cCc>cTc p.P641L NM_181646.2 NP_857597.1 A4D1E1 Z804B_HUMAN zinc finger protein 804B 641 intracellular zinc ion binding NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9) 144 all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151) STAD - Stomach adenocarcinoma(171;0.0513) AAATTGATTCCCTGCAGTCCT 0.423000 HNSCC(36;0.09) 25 103 0 0 1 0 0 NISCH 11188 broad.mit.edu 37 3 52512223 52512223 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:52512223C>T ENST00000345716.4 + 10 1232 c.1098C>T c.(1096-1098)ctC>ctT p.L366L NISCH_ENST00000420808.2_Silent_p.L366L|NISCH_ENST00000479054.1_Silent_p.L366L|NISCH_ENST00000464280.1_3'UTR|NISCH_ENST00000488380.1_Silent_p.L366L NM_007184.3 NP_009115.2 Q9Y2I1 NISCH_HUMAN nischarin 366 Interaction with PAK1 (By similarity).|Necessary for homooligomerization and targeting to endosomes. apoptosis|cell communication cytosol|early endosome|plasma membrane|recycling endosome phosphatidylinositol binding|receptor activity NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 33 BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577) CAGGCAACCTCCTAGAGAGTC 0.537000 40 95 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179599583 179599583 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:179599583C>T ENST00000589042.1 - 51 15292 c.15068G>A c.(15067-15069)aGt>aAt p.S5023N TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.S4706N|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.S3779N|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 4706 Ig-like 30. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GTTACTTTCACTGAGTTCTTT 0.398000 32 53 0 0 1 0 0 ELF5 2001 broad.mit.edu 37 11 34502395 34502395 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:34502395C>T ENST00000312319.2 - 6 854 c.625G>A c.(625-627)Gaa>Aaa p.E209K ELF5_ENST00000257832.2_Missense_Mutation_p.E199K|ELF5_ENST00000429939.2_Missense_Mutation_p.E104K NM_001243081.1|NM_198381.1 NP_001230010.1|NP_938195.1 Q9UKW6 ELF5_HUMAN E74-like factor 5 (ets domain transcription factor) 209 cell proliferation|transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity large_intestine(4)|skin(1) 5 Acute lymphoblastic leukemia(5;0.0087)|all_hematologic(20;0.0384) GCCAGGGCTTCCGATTTAACC 0.413000 67 92 0 0 1 0 0 OBSCN 84033 broad.mit.edu 37 1 228550411 228550411 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:228550411G>A ENST00000570156.2 + 91 21741 c.21667G>A c.(21667-21669)Gaa>Aaa p.E7223K OBSCN_ENST00000366707.4_Missense_Mutation_p.E3900K|OBSCN_ENST00000422127.1_Missense_Mutation_p.E6266K NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 6266 apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) CGCACTCCAGGAAACCGGCTC 0.672000 8 18 0 0 1 0 0 CHRNA1 1134 broad.mit.edu 37 2 175612948 175612948 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:175612948C>T ENST00000348749.5 - 9 1355 c.1278G>A c.(1276-1278)atG>atA p.M426I AC018890.6_ENST00000442996.1_RNA|CHRNA1_ENST00000261007.5_Missense_Mutation_p.M451I|CHRNA1_ENST00000409542.1_Missense_Mutation_p.M344I|CHRNA1_ENST00000409219.1_Missense_Mutation_p.M346I NM_000079.3 NP_000070.1 P02708 ACHA_HUMAN cholinergic receptor, nicotinic, alpha 1 (muscle) 451 muscle cell homeostasis|neuromuscular junction development|neuromuscular process|neuromuscular synaptic transmission|neuron homeostasis|regulation of action potential in neuron|skeletal muscle contraction|skeletal muscle tissue growth cell junction|cell surface|neuromuscular junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(3)|prostate(3)|skin(4) 37 GTATGTGGTCCATCACCATTG 0.498000 38 69 0 0 1 0 0 RELB 5971 broad.mit.edu 37 19 45515524 45515524 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:45515524C>T ENST00000221452.8 + 4 644 c.494C>T c.(493-495)cCc>cTc p.P165L RELB_ENST00000540120.1_Missense_Mutation_p.P165L|RELB_ENST00000505236.1_Missense_Mutation_p.P162L NM_006509.3 NP_006500.2 Q01201 RELB_HUMAN v-rel avian reticuloendotheliosis viral oncogene homolog B 165 RHD. nucleus protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|ovary(3)|skin(1) 12 Ovarian(192;0.0728)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.00986) AAGACGCTGCCCGCCATCGAG 0.687000 5 22 0 0 1 0 0 PRICKLE2 166336 broad.mit.edu 37 3 64133037 64133037 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:64133037C>T ENST00000295902.6 - 7 1714 c.1129G>A c.(1129-1131)Gac>Aac p.D377N PRICKLE2_ENST00000564377.1_Missense_Mutation_p.D433N NM_198859.3 NP_942559.1 Q7Z3G6 PRIC2_HUMAN prickle homolog 2 (Drosophila) 377 cytoplasm|nuclear membrane zinc ion binding breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1) 32 Lung NSC(201;0.136) BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497) CTGAGCATGTCCATCTGCAGT 0.597000 84 130 0 0 1 0 0 CDH12 1010 broad.mit.edu 37 5 21765100 21765100 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:21765100G>A ENST00000382254.1 - 12 2588 c.1502C>T c.(1501-1503)gCc>gTc p.A501V CDH12_ENST00000504376.2_Missense_Mutation_p.A501V|CDH12_ENST00000522262.1_Missense_Mutation_p.A461V|CDH12_ENST00000521384.1_5'UTR|RP11-804N13.1_ENST00000522350.1_RNA NM_004061.3 NP_004052.2 P55289 CAD12_HUMAN cadherin 12, type 2 (N-cadherin 2) 501 Cadherin 5. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 120 TCCTGGCTTGGCATTTTCACA 0.358000 HNSCC(59;0.17) 64 49 0 0 1 0 0 SEC61A2 55176 broad.mit.edu 37 10 12185192 12185192 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:12185192G>A ENST00000379033.3 + 3 299 c.152G>A c.(151-153)aGa>aAa p.R51K SEC61A2_ENST00000304267.8_Missense_Mutation_p.R73K|SEC61A2_ENST00000379020.4_Missense_Mutation_p.R73K|SEC61A2_ENST00000379051.1_Missense_Mutation_p.R73K|SEC61A2_ENST00000298428.9_Missense_Mutation_p.R73K|SEC61A2_ENST00000379017.3_Missense_Mutation_p.R73K|SEC61A2_ENST00000495368.1_3'UTR NM_001142628.1 NP_001136100.1 Q9H9S3 S61A2_HUMAN Sec61 alpha 2 subunit (S. cerevisiae) 73 endoplasmic reticulum membrane|integral to membrane P-P-bond-hydrolysis-driven protein transmembrane transporter activity cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 14 Renal(717;0.228) GCTTCCAATAGAGGTATGCGT 0.413000 11 242 0 0 1 0 0 KCNJ3 3760 broad.mit.edu 37 2 155711631 155711631 + Nonsense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:155711631C>T ENST00000295101.2 + 3 1789 c.1312C>T c.(1312-1314)Caa>Taa p.Q438* NM_001260509.1|NM_002239.3 NP_001247438.1|NP_002230.1 P48549 IRK3_HUMAN potassium inwardly-rectifying channel, subfamily J, member 3 438 synaptic transmission voltage-gated potassium channel complex G-protein activated inward rectifier potassium channel activity|protein binding breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(30)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 54 Halothane(DB01159) CATGAAACTTCAACGAATAAG 0.423000 47 82 0 0 1 0 0 MAGI2 9863 broad.mit.edu 37 7 77973147 77973147 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:77973147C>T ENST00000354212.4 - 9 1609 c.1356G>A c.(1354-1356)gtG>gtA p.V452V MAGI2_ENST00000522391.1_Silent_p.V452V|MAGI2_ENST00000535697.1_Silent_p.V289V|MAGI2_ENST00000536571.1_Silent_p.V284V|MAGI2_ENST00000419488.1_Silent_p.V452V NM_012301.3 NP_036433.2 Q86UL8 MAGI2_HUMAN membrane associated guanylate kinase, WW and PDZ domain containing 2 452 PDZ 2. cell junction|synapse|synaptosome phosphatase binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3) 84 all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236) TCACACTTTTCACCTGCAGAA 0.438000 44 87 0 0 1 0 0 EGFR 1956 broad.mit.edu 37 7 55211030 55211030 + Silent SNP T T C TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:55211030T>C ENST00000275493.2 + 3 450 c.273T>C c.(271-273)atT>atC p.I91I EGFR_ENST00000420316.2_Silent_p.I91I|EGFR_ENST00000455089.1_Silent_p.I91I|EGFR_ENST00000344576.2_Silent_p.I91I|EGFR_ENST00000442591.1_Silent_p.I91I|EGFR_ENST00000342916.3_Silent_p.I91I|EGFR_ENST00000454757.2_Silent_p.I38I NM_005228.3 NP_005219.2 P00533 EGFR_HUMAN epidermal growth factor receptor 91 activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6) 14110 all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318) GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607) Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072) ATGTCCTCATTGCCCTCAACA 0.413000 8 """A, O, Mis""" """glioma, NSCLC""" NSCLC Lung Cancer, Familial Clustering of TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08) 26 74 0 0 1 0 0 STK31 56164 broad.mit.edu 37 7 23830510 23830510 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:23830510G>A ENST00000354639.3 + 22 3100 c.2636G>A c.(2635-2637)gGa>gAa p.G879E STK31_ENST00000428484.1_Missense_Mutation_p.G879E|STK31_ENST00000405627.3_3'UTR|STK31_ENST00000433467.2_Missense_Mutation_p.G902E|STK31_ENST00000355870.3_Missense_Mutation_p.G902E NM_001260504.1|NM_032944.3 NP_001247433.1|NP_116562.2 Q9BXU1 STK31_HUMAN serine/threonine kinase 31 902 Protein kinase. ATP binding|nucleic acid binding|protein serine/threonine kinase activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 67 TTGAAAATGGGAAAACCTGCT 0.353000 39 60 0 0 1 0 0 NCKAP5 344148 broad.mit.edu 37 2 133542129 133542129 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:133542129G>A ENST00000409261.1 - 14 2628 c.2255C>T c.(2254-2256)cCc>cTc p.P752L NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000317721.6_Missense_Mutation_p.P752L NM_207363.2 NP_997246.2 O14513 NCKP5_HUMAN NCK-associated protein 5 752 protein binding NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 118 GGACACCCTGGGAACATTATC 0.408000 36 68 0 0 1 0 0 COL6A3 1293 broad.mit.edu 37 2 238280478 238280478 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:238280478G>A ENST00000295550.4 - 9 4634 c.4182C>T c.(4180-4182)ttC>ttT p.F1394F COL6A3_ENST00000472056.1_Silent_p.F787F|COL6A3_ENST00000392004.3_Silent_p.F1188F|COL6A3_ENST00000353578.4_Silent_p.F1188F|COL6A3_ENST00000346358.4_Silent_p.F1194F|COL6A3_ENST00000347401.3_Silent_p.F1193F|COL6A3_ENST00000392003.2_Silent_p.F987F|COL6A3_ENST00000409809.1_Silent_p.F1188F NM_004369.3 NP_004360.2 P12111 CO6A3_HUMAN collagen, type VI, alpha 3 1394 Nonhelical region.|VWFA 7. axon guidance|cell adhesion|muscle organ development collagen type VI|extracellular space serine-type endopeptidase inhibitor activity breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4) 217 Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203) Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034) GCAGCTCCCGGAAGGTGCTCA 0.597000 44 99 0 0 1 0 0 SERPINB5 5268 broad.mit.edu 37 18 61156688 61156688 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr18:61156688C>T ENST00000382771.4 + 4 707 c.415C>T c.(415-417)Ctc>Ttc p.L139F SERPINB5_ENST00000489441.1_Missense_Mutation_p.L139F NM_002639.4 NP_002630.2 P36952 SPB5_HUMAN serpin peptidase inhibitor, clade B (ovalbumin), member 5 139 cellular component movement|regulation of proteolysis cytoplasm|extracellular space protein binding|serine-type endopeptidase inhibitor activity kidney(3)|large_intestine(2)|lung(5)|ovary(1)|prostate(1) 12 AATTAAGGATCTCACAGATGG 0.383000 19 47 0 0 1 0 0 ZNF827 152485 broad.mit.edu 37 4 146823898 146823898 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:146823898C>T ENST00000508784.1 - 2 740 c.513G>A c.(511-513)agG>agA p.R171R ZNF827_ENST00000379448.4_Silent_p.R171R|ZNF827_ENST00000513320.1_Intron Q17R98 ZN827_HUMAN zinc finger protein 827 171 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 48 all_hematologic(180;0.151) CGGCCAACTTCCTGGCCAGAA 0.537000 48 91 0 0 1 0 0 MAMDC2 256691 broad.mit.edu 37 9 72758679 72758679 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:72758679C>T ENST00000377182.4 + 9 1965 c.1348C>T c.(1348-1350)Cca>Tca p.P450S MAMDC2-AS1_ENST00000591368.1_RNA NM_153267.4 NP_694999.3 Q7Z304 MAMC2_HUMAN MAM domain containing 2 450 MAM 3. endoplasmic reticulum|membrane breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1) 14 GTTGGAGTCCCCAAGGGGTGT 0.453000 55 121 0 0 1 0 0 PCSK1 5122 broad.mit.edu 37 5 95746650 95746650 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:95746650C>T ENST00000311106.3 - 8 1160 c.923G>A c.(922-924)gGa>gAa p.G308E PCSK1_ENST00000513085.1_Intron|CTD-2337A12.1_ENST00000502645.2_RNA|PCSK1_ENST00000508626.1_Missense_Mutation_p.G261E NM_000439.4|NM_001177876.1 NP_000430.3|NP_001171347.1 P29120 NEC1_HUMAN proprotein convertase subtilisin/kexin type 1 308 Catalytic. cell-cell signaling|cellular nitrogen compound metabolic process|energy reserve metabolic process|hormone biosynthetic process|peptide biosynthetic process|peptide hormone processing|regulation of insulin secretion extracellular space|stored secretory granule|transport vesicle serine-type endopeptidase activity NS(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2) 36 all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244) all cancers(79;3.44e-16) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) CCCCCCGTTTCCCGAAGCCCA 0.512000 89 159 0 0 1 0 0 DOCK10 55619 broad.mit.edu 37 2 225684176 225684176 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:225684176G>A ENST00000409592.3 - 29 3349 c.3236C>T c.(3235-3237)tCc>tTc p.S1079F DOCK10_ENST00000258390.7_Missense_Mutation_p.S1085F Q96BY6 DOC10_HUMAN dedicator of cytokinesis 10 1085 GTP binding NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 87 Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14) Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178) AAGGTCACCGGAGGAGAACAT 0.363000 32 81 0 0 1 0 0 USP32 84669 broad.mit.edu 37 17 58422856 58422856 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:58422856G>A ENST00000300896.4 - 2 366 c.172C>T c.(172-174)Cca>Tca p.P58S USP32_ENST00000393003.3_Missense_Mutation_p.P58S NM_032582.3 NP_115971.2 Q8NFA0 UBP32_HUMAN ubiquitin specific peptidase 32 58 protein deubiquitination|ubiquitin-dependent protein catabolic process Golgi apparatus|membrane calcium ion binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity NS(3)|breast(5)|endometrium(5)|kidney(4)|large_intestine(12)|liver(1)|lung(24)|pancreas(1)|prostate(3)|skin(3)|urinary_tract(1) 62 all_neural(34;0.0878)|Medulloblastoma(34;0.0922) Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198) GCAACCTTTGGAGGCACTCCA 0.483000 41 108 0 0 1 0 0 ABT1 29777 broad.mit.edu 37 6 26598600 26598600 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:26598600C>T ENST00000274849.1 + 3 577 c.546C>T c.(544-546)acC>acT p.T182T NM_013375.3 NP_037507.1 Q9ULW3 ABT1_HUMAN activator of basal transcription 1 182 regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter nucleolus DNA binding|nucleotide binding|protein binding|RNA binding|transcription coactivator activity breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|urinary_tract(1) 11 AGCGTGAGACCGACTTCTATC 0.612000 42 103 0 0 1 0 0 CILP 8483 broad.mit.edu 37 15 65489203 65489203 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr15:65489203G>A ENST00000261883.4 - 9 3587 c.3421C>T c.(3421-3423)Cct>Tct p.P1141S NM_003613.3 NP_003604.3 O75339 CILP1_HUMAN cartilage intermediate layer protein, nucleotide pyrophosphohydrolase 1141 negative regulation of insulin-like growth factor receptor signaling pathway extracellular matrix part|extracellular space|proteinaceous extracellular matrix breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1) 55 CCTGCAGCAGGGGACTGGGCT 0.622000 28 67 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179596618 179596618 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:179596618C>T ENST00000589042.1 - 58 17208 c.16984G>A c.(16984-16986)Ggc>Agc p.G5662S TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.G5345S|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G4418S|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 5345 Ig-like 37. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GGAGGAGTGCCTGCCACCTCA 0.413000 48 114 0 0 1 0 0 HEPACAM2 253012 broad.mit.edu 37 7 92838062 92838062 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:92838062G>A ENST00000394468.2 - 4 920 c.843C>T c.(841-843)tcC>tcT p.S281S HEPACAM2_ENST00000341723.4_Silent_p.S269S|HEPACAM2_ENST00000453812.2_Silent_p.S304S|HEPACAM2_ENST00000440868.1_Silent_p.S269S NM_001039372.1 NP_001034461.1 A8MVW5 HECA2_HUMAN HEPACAM family member 2 281 Ig-like C2-type 2. integral to membrane breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(4)|skin(1) 28 TCCTAATCCAGGAGTAGGTGT 0.443000 67 120 0 0 1 0 0 AHNAK2 113146 broad.mit.edu 37 14 105416594 105416594 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr14:105416594G>A ENST00000333244.5 - 7 5313 c.5194C>T c.(5194-5196)Ccc>Tcc p.P1732S AHNAK2_ENST00000557457.1_Intron NM_138420.2 NP_612429.2 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 1732 nucleus cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3) 33 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) GCTCCCTCGGGAAGGGGGCCC 0.637000 28 373 0 0 1 0 0 SGMS1 259230 broad.mit.edu 37 10 52103530 52103530 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:52103530C>T ENST00000361781.2 - 7 1304 c.345G>A c.(343-345)atG>atA p.M115I SGMS1_ENST00000429490.1_Intron|SGMS1_ENST00000361543.2_Missense_Mutation_p.M115I NM_147156.3 NP_671512.1 Q86VZ5 SMS1_HUMAN sphingomyelin synthase 1 121 apoptosis|cell growth|sphingomyelin biosynthetic process endoplasmic reticulum|Golgi trans cisterna|integral to Golgi membrane|nucleus|plasma membrane ceramide cholinephosphotransferase activity|kinase activity|sphingomyelin synthase activity endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 16 GGATCTTTATCATCTCTTTCC 0.507000 41 99 0 0 1 0 0 ADD2 119 broad.mit.edu 37 2 70915182 70915182 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:70915182G>A ENST00000264436.3 - 9 1366 c.922C>T c.(922-924)Cac>Tac p.H308Y ADD2_ENST00000430656.1_Missense_Mutation_p.H324Y|ADD2_ENST00000355733.3_Missense_Mutation_p.H308Y|ADD2_ENST00000413157.2_Missense_Mutation_p.H308Y|AC007395.3_ENST00000457851.1_RNA|ADD2_ENST00000407644.2_Missense_Mutation_p.H308Y NM_001617.3 NP_001608.1 P35612 ADDB_HUMAN adducin 2 (beta) 308 actin filament bundle assembly|barbed-end actin filament capping|positive regulation of protein binding cytoplasm|F-actin capping protein complex|plasma membrane actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2) 36 GCCTGCAGGTGGAAGATCTTG 0.502000 23 48 0 0 1 0 0 DNAH9 1770 broad.mit.edu 37 17 11573061 11573061 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:11573061G>A ENST00000262442.3 + 17 3371 c.3303G>A c.(3301-3303)aaG>aaA p.K1101K DNAH9_ENST00000454412.2_Silent_p.K1101K NM_001372.3 NP_001363.2 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 1101 Stem (By similarity). cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4) 290 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) ATATTATTAAGAGGTGGAGCC 0.458000 6 243 0 0 1 0 0 DDX60L 91351 broad.mit.edu 37 4 169362526 169362526 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:169362526C>T ENST00000511577.1 - 10 1503 c.1256G>A c.(1255-1257)aGa>aAa p.R419K DDX60L_ENST00000505890.1_Missense_Mutation_p.R419K|DDX60L_ENST00000260184.7_Missense_Mutation_p.R419K Q5H9U9 DDX6L_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like 419 ATP binding|ATP-dependent helicase activity|RNA binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1) 43 Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132) GBM - Glioblastoma multiforme(119;0.175) AAAATGTCTTCTTGTTGTTCT 0.373000 42 74 0 0 1 0 0 CYP26A1 1592 broad.mit.edu 37 10 94835652 94835652 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:94835652C>T ENST00000371531.1 + 5 1105 c.727C>T c.(727-729)Ctg>Ttg p.L243L CYP26A1_ENST00000394139.1_Silent_p.L243L|CYP26A1_ENST00000224356.4_Silent_p.L312L NM_057157.2 NP_476498.1 O43174 CP26A_HUMAN cytochrome P450, family 26, subfamily A, polypeptide 1 312 negative regulation of retinoic acid receptor signaling pathway|retinoic acid catabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome electron carrier activity|heme binding|oxygen binding|retinoic acid 4-hydroxylase activity|retinoic acid binding breast(1)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 16 Colorectal(252;0.122) AGCCACATCTCTGATCACTTA 0.507000 27 60 0 0 1 0 0 OR13D1 286365 broad.mit.edu 37 9 107457469 107457469 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:107457469C>T ENST00000318763.5 + 1 810 c.767C>T c.(766-768)tCc>tTc p.S256F NM_001004484.1 NP_001004484.1 Q8NGV5 O13D1_HUMAN olfactory receptor, family 13, subfamily D, member 1 256 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(4)|lung(10)|ovary(1)|prostate(2)|skin(2) 19 ATTCTCTCTTCCATCCTGAGA 0.388000 54 96 0 0 1 0 0 TRIOBP 11078 broad.mit.edu 37 22 38121680 38121680 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr22:38121680C>T ENST00000406386.3 + 7 3372 c.3117C>T c.(3115-3117)ccC>ccT p.P1039P RP1-37E16.12_ENST00000455236.1_RNA NM_001039141.2 NP_001034230.1 Q9H2D6 TARA_HUMAN TRIO and F-actin binding protein 1039 actin modification|barbed-end actin filament capping actin cytoskeleton|cytoplasm|nucleus actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 12 Melanoma(58;0.0574) ACCCCTTCCCCTTCTTCCCAG 0.657000 66 175 0 0 1 0 0 CCR3 1232 broad.mit.edu 37 3 46307280 46307280 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:46307280C>T ENST00000357422.2 + 4 1174 c.631C>T c.(631-633)Cct>Tct p.P211S CCR3_ENST00000541018.1_Missense_Mutation_p.P211S|CCR3_ENST00000395942.2_Missense_Mutation_p.P211S|CCR3_ENST00000545097.1_Missense_Mutation_p.P232S|CCR3_ENST00000395940.2_Missense_Mutation_p.P211S P51677 CCR3_HUMAN chemokine (C-C motif) receptor 3 211 cell adhesion|cellular defense response|chemotaxis|elevation of cytosolic calcium ion concentration|G-protein signaling, coupled to cAMP nucleotide second messenger|inflammatory response|interspecies interaction between organisms|positive regulation of angiogenesis integral to plasma membrane breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(3)|urinary_tract(1) 18 BRCA - Breast invasive adenocarcinoma(193;0.00119)|KIRC - Kidney renal clear cell carcinoma(197;0.0183)|Kidney(197;0.0216) TCTCGTTCTCCCTCTGCTCGT 0.463000 23 70 0 0 1 0 0 HELT 391723 broad.mit.edu 37 4 185941904 185941904 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:185941904C>T ENST00000338875.4 + 4 962 c.962C>T c.(961-963)cCc>cTc p.P321L HELT_ENST00000505610.1_Missense_Mutation_p.P235L|HELT_ENST00000515777.1_Missense_Mutation_p.P236L NM_001029887.1 NP_001025058.1 A6NFD8 HELT_HUMAN helt bHLH transcription factor 321 DNA binding central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(2) 14 all_lung(41;9.65e-12)|Lung NSC(41;1.64e-11)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749) all cancers(43;8.92e-26)|Epithelial(43;3.02e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.59e-11)|Colorectal(24;4.79e-05)|BRCA - Breast invasive adenocarcinoma(30;7.72e-05)|GBM - Glioblastoma multiforme(59;0.000274)|COAD - Colon adenocarcinoma(29;0.000362)|STAD - Stomach adenocarcinoma(60;0.000756)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155) CTGCACACGCCCCAGCACCCC 0.602000 34 68 0 0 1 0 0 INTS12 57117 broad.mit.edu 37 4 106621145 106621145 + Missense_Mutation SNP G G T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:106621145G>T ENST00000451321.2 - 2 497 c.18C>A c.(16-18)aaC>aaA p.N6K INTS12_ENST00000394735.1_Missense_Mutation_p.N6K|INTS12_ENST00000340139.5_Missense_Mutation_p.N6K NM_001142471.1 NP_001135943.1 Q96CB8 INT12_HUMAN integrator complex subunit 12 6 snRNA processing integrator complex protein binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|urinary_tract(1) 14 OV - Ovarian serous cystadenocarcinoma(123;5.12e-07) CAAGTTCCAAGTTCACAGTAG 0.348000 12 233 4.3838e-07 4.40399e-07 1 1 0 TMED4 222068 broad.mit.edu 37 7 44621332 44621332 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:44621332G>A ENST00000457408.2 - 2 303 c.251C>T c.(250-252)cCc>cTc p.P84L TMED4_ENST00000289577.5_Missense_Mutation_p.P84L|TMED4_ENST00000444131.2_5'UTR|TMED4_ENST00000481238.1_Missense_Mutation_p.P84L NM_182547.2 NP_872353.2 Q7Z7H5 TMED4_HUMAN transmembrane emp24 protein transport domain containing 4 84 GOLD. positive regulation of I-kappaB kinase/NF-kappaB cascade|transport endoplasmic reticulum membrane|integral to membrane signal transducer activity breast(1)|endometrium(1)|large_intestine(2)|lung(2) 6 CTTGCCGTCGGGGTCCTTCAC 0.627000 49 91 0 0 1 0 0 SLC18A3 6572 broad.mit.edu 37 10 50820335 50820335 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:50820335C>T ENST00000374115.3 + 1 1989 c.1549C>T c.(1549-1551)Cct>Tct p.P517S CHAT_ENST00000339797.1_Intron NM_003055.2 NP_003046.2 Q16572 VACHT_HUMAN solute carrier family 18 (vesicular acetylcholine transporter), member 3 517 neurotransmitter secretion clathrin sculpted acetylcholine transport vesicle membrane|integral to plasma membrane|membrane fraction acetylcholine transmembrane transporter activity endometrium(6)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2) 43 CCCGCCTGGCCCTTTTGATGC 0.642000 51 134 0 0 1 0 0 KMT2D 8085 broad.mit.edu 37 12 49425428 49425428 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:49425428G>A ENST00000301067.7 - 39 13059 c.13060C>T c.(13060-13062)Cct>Tct p.P4354S NM_003482.3 NP_003473.3 lysine (K)-specific methyltransferase 2D CTCCCAGGAGGCGGCTCCAAG 0.612000 11 13 0 0 1 0 0 SCN11A 11280 broad.mit.edu 37 3 38941395 38941395 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:38941395G>A ENST00000302328.3 - 13 2210 c.2012C>T c.(2011-2013)tCc>tTc p.S671F SCN11A_ENST00000444237.2_Missense_Mutation_p.S671F|SCN11A_ENST00000456224.3_Missense_Mutation_p.S671F|SCN11A_ENST00000450244.1_Missense_Mutation_p.S671F NM_014139.2 NP_054858.2 Q9UI33 SCNBA_HUMAN sodium channel, voltage-gated, type XI, alpha subunit 671 response to drug voltage-gated sodium channel complex voltage-gated sodium channel activity NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3) 119 Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226) Cocaine(DB00907) CACTCTGAAGGAACGCAAGAA 0.413000 21 34 0 0 1 0 0 ZNF358 140467 broad.mit.edu 37 19 7585271 7585271 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:7585271G>A ENST00000597229.1 + 2 1313 c.1143G>A c.(1141-1143)ggG>ggA p.G381G CTD-2207O23.11_ENST00000602083.1_RNA|ZNF358_ENST00000394341.2_Silent_p.G381G NM_018083.4 NP_060553.4 Q9NW07 ZN358_HUMAN zinc finger protein 358 381 embryonic forelimb morphogenesis|neural tube development|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|lung(1)|skin(2) 8 AGCTCTGCGGGAAGGCCTTCG 0.692000 4 74 0 0 1 0 0 COL6A3 1293 broad.mit.edu 37 2 238249745 238249745 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:238249745G>A ENST00000295550.4 - 38 8266 c.7814C>T c.(7813-7815)tCc>tTc p.S2605F COL6A3_ENST00000472056.1_Missense_Mutation_p.S1998F|COL6A3_ENST00000353578.4_Missense_Mutation_p.S2399F|COL6A3_ENST00000346358.4_Missense_Mutation_p.S2405F|COL6A3_ENST00000347401.3_Missense_Mutation_p.S2404F|COL6A3_ENST00000409809.1_Missense_Mutation_p.S2399F NM_004369.3 NP_004360.2 P12111 CO6A3_HUMAN collagen, type VI, alpha 3 2605 Nonhelical region. axon guidance|cell adhesion|muscle organ development collagen type VI|extracellular space serine-type endopeptidase inhibitor activity breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4) 217 Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203) Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034) GTCCCTGAAGGAAGGCCTCCA 0.527000 6 262 0 0 1 0 0 ITPRIPL2 162073 broad.mit.edu 37 16 19126497 19126497 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr16:19126497G>A ENST00000381440.3 + 1 1244 c.714G>A c.(712-714)gtG>gtA p.V238V CTD-2349B8.1_ENST00000564808.2_Intron NM_001034841.3 NP_001030013.1 Q3MIP1 IPIL2_HUMAN inositol 1,4,5-trisphosphate receptor interacting protein-like 2 238 integral to membrane endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 9 CCTTCTGCGTGGATGTGCGCG 0.652000 OREG0023657 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 54 136 0 0 1 0 0 KCNT1 57582 broad.mit.edu 37 9 138650349 138650349 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:138650349C>T ENST00000298480.5 + 10 923 c.849C>T c.(847-849)ttC>ttT p.F283F KCNT1_ENST00000371757.2_Silent_p.F283F|KCNT1_ENST00000263604.3_Silent_p.F264F|KCNT1_ENST00000486577.2_Silent_p.F244F|KCNT1_ENST00000488444.2_Silent_p.F264F|KCNT1_ENST00000487664.1_Silent_p.F235F|KCNT1_ENST00000490355.2_Silent_p.F264F|KCNT1_ENST00000491806.2_Silent_p.F250F B7ZVY4 B7ZVY4_HUMAN potassium channel, subfamily T, member 1 283 membrane binding|calcium-activated potassium channel activity breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 50 Myeloproliferative disorder(178;0.0821) OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05) GCCTCGTTTTCACGGGGTGAG 0.612000 30 100 0 0 1 0 0 GAS2L3 283431 broad.mit.edu 37 12 101018067 101018067 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:101018067C>T ENST00000537247.1 + 10 2126 c.1172C>T c.(1171-1173)tCa>tTa p.S391L GAS2L3_ENST00000539410.1_Missense_Mutation_p.S495L|GAS2L3_ENST00000266754.5_Missense_Mutation_p.S495L|GAS2L3_ENST00000547754.1_Missense_Mutation_p.S495L Q86XJ1 GA2L3_HUMAN growth arrest-specific 2 like 3 495 cell cycle arrest endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 35 CATTCAAATTCATCCTCAAAA 0.363000 39 73 0 0 1 0 0 ZNF649 65251 broad.mit.edu 37 19 52394543 52394543 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:52394543C>T ENST00000354957.3 - 5 1130 c.846G>A c.(844-846)agG>agA p.R282R ZNF649_ENST00000600738.1_Silent_p.R254R|CTC-429C10.2_ENST00000600329.1_RNA NM_023074.3 NP_075562.2 Q9BS31 ZN649_HUMAN zinc finger protein 649 282 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1) 29 all_neural(266;0.0602) GBM - Glioblastoma multiforme(134;0.00152)|OV - Ovarian serous cystadenocarcinoma(262;0.0185) CCGTGTGAATCCTTTGATGTT 0.473000 10 77 0 0 1 0 0 EGFLAM 133584 broad.mit.edu 37 5 38418287 38418287 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:38418287C>T ENST00000322350.5 + 12 1960 c.1614C>T c.(1612-1614)ctC>ctT p.L538L EGFLAM_ENST00000336740.6_Silent_p.L304L|EGFLAM_ENST00000354891.3_Silent_p.L538L|EGFLAM_ENST00000397202.2_Intron NM_152403.3 NP_689616.2 Q63HQ2 EGFLA_HUMAN EGF-like, fibronectin type III and laminin G domains 538 Laminin G-like 1. cell junction|proteinaceous extracellular matrix|synapse NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 85 all_lung(31;0.000385) TGCAGTCGCTCGCTGTGAATG 0.577000 34 148 0 0 1 0 0 COL15A1 1306 broad.mit.edu 37 9 101798471 101798471 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:101798471G>A ENST00000375001.3 + 20 2732 c.2309G>A c.(2308-2310)gGa>gAa p.G770E NM_001855.3 NP_001846.3 P39059 COFA1_HUMAN collagen, type XV, alpha 1 770 Triple-helical region 3 (COL3). angiogenesis|cell differentiation|signal transduction collagen type XV|extracellular space|integral to membrane binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 107 Acute lymphoblastic leukemia(62;0.0562) GGAGAGAAAGGAGACCGGGGA 0.488000 10 114 0 0 1 0 0 GLTSCR1L 23506 broad.mit.edu 37 6 42797680 42797680 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:42797680C>T ENST00000314073.5 + 6 1785 c.1609C>T c.(1609-1611)Cct>Tct p.P537S GLTSCR1L_ENST00000394168.1_Missense_Mutation_p.P537S GLTSCR1-like CATGTCAGGACCTAGTCGGTT 0.547000 24 92 0 0 1 0 0 BMPER 168667 broad.mit.edu 37 7 34097694 34097694 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:34097694C>T ENST00000297161.2 + 11 1325 c.951C>T c.(949-951)atC>atT p.I317I BMPER_ENST00000426693.1_Silent_p.I317I NM_133468.4 NP_597725.1 Q8N8U9 BMPER_HUMAN BMP binding endothelial regulator 317 VWFC 5. blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation extracellular space breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 48 GGTCCTCTATCAATTGTACCA 0.507000 16 37 0 0 1 0 0 OR5L2 26338 broad.mit.edu 37 11 55595333 55595333 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:55595333C>T ENST00000378397.1 + 1 639 c.639C>T c.(637-639)atC>atT p.I213I NM_001004739.1 NP_001004739.1 Q8NGL0 OR5L2_HUMAN olfactory receptor, family 5, subfamily L, member 2 213 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 59 all_epithelial(135;0.208) CCATCATGATCATCCTCACCT 0.498000 HNSCC(27;0.073) 59 121 0 0 1 0 0 PYHIN1 149628 broad.mit.edu 37 1 158911817 158911817 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:158911817C>T ENST00000368140.1 + 5 875 c.630C>T c.(628-630)ttC>ttT p.F210F PYHIN1_ENST00000485134.1_3'UTR|PYHIN1_ENST00000392252.3_Silent_p.F201F|PYHIN1_ENST00000368138.3_Silent_p.F201F|PYHIN1_ENST00000392254.2_Silent_p.F210F NM_152501.4|NM_198928.4|NM_198929.4 NP_689714.2|NP_945146.1|NP_945147.1 Q6K0P9 IFIX_HUMAN pyrin and HIN domain family, member 1 210 HIN-200. cell cycle nuclear speck breast(2)|endometrium(3)|large_intestine(10)|lung(32)|ovary(3)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 all_hematologic(112;0.0378) AAAATATTTTCCGAGAAGACC 0.368000 54 57 0 0 1 0 0 TAF1L 138474 broad.mit.edu 37 9 32632148 32632148 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:32632148C>T ENST00000242310.4 - 1 3519 c.3430G>A c.(3430-3432)Gag>Aag p.E1144K NM_153809.2 NP_722516.1 Q8IZX4 TAF1L_HUMAN TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like 1144 male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent transcription factor TFIID complex DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1) 159 LUSC - Lung squamous cell carcinoma(29;0.0181) GBM - Glioblastoma multiforme(74;0.00301) TCCTTCCGCTCCTGCTCCTCC 0.473000 4 93 0 0 1 0 0 ZC3H18 124245 broad.mit.edu 37 16 88664623 88664623 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr16:88664623C>T ENST00000301011.5 + 4 926 c.726C>T c.(724-726)caC>caT p.H242H ZC3H18_ENST00000452588.2_Silent_p.H266H NM_144604.3 NP_653205.3 Q86VM9 ZCH18_HUMAN zinc finger CCCH-type containing 18 242 nucleus nucleic acid binding|zinc ion binding endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(9)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 42 BRCA - Breast invasive adenocarcinoma(80;0.0542) GGTTTATACACCCTGGAGTGA 0.542000 9 88 0 0 1 0 0 DNAJB13 374407 broad.mit.edu 37 11 73681078 73681078 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:73681078C>T ENST00000339764.1 + 8 1621 c.870C>T c.(868-870)ctC>ctT p.L290L DNAJB13_ENST00000543947.1_Silent_p.L115L|RP11-167N4.2_ENST00000537019.1_RNA|DNAJB13_ENST00000537753.1_Silent_p.L115L NM_153614.2 NP_705842.2 P59910 DJB13_HUMAN DnaJ (Hsp40) homolog, subfamily B, member 13 290 apoptosis|protein folding|spermatogenesis heat shock protein binding|unfolded protein binding large_intestine(3)|lung(2) 5 Breast(11;7.42e-05) AAGGGGATCTCTTCATCTTCT 0.547000 111 181 0 0 1 0 0 GPR111 222611 broad.mit.edu 37 6 47649202 47649202 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:47649202G>A ENST00000398742.2 + 5 752 c.703G>A c.(703-705)Gga>Aga p.G235R GPR111_ENST00000507065.1_Missense_Mutation_p.G235R|GPR111_ENST00000296862.1_Missense_Mutation_p.G303R Q8IZF7 GP111_HUMAN G protein-coupled receptor 111 303 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(15)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 29 AGATAACATTGGAAAAAATTT 0.398000 9 229 0 0 1 0 0 MYO1F 4542 broad.mit.edu 37 19 8618320 8618320 + Splice_Site SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:8618320C>T ENST00000338257.8 - 5 595 c.326_splice c.e5-1 p.G110_splice NM_012335.3 NP_036467.2 O00160 MYO1F_HUMAN myosin IF 110 Myosin head-like. unconventional myosin complex actin binding|ATP binding|calmodulin binding|motor activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1) 42 CCACTCTCTCCACTGGGGATG 0.517000 37 70 0 0 1 0 0 MRAS 22808 broad.mit.edu 37 3 138116230 138116230 + Silent SNP T T C TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:138116230T>C ENST00000289104.4 + 3 905 c.258T>C c.(256-258)gaT>gaC p.D86D MRAS_ENST00000474559.1_Silent_p.D86D|MRAS_ENST00000423968.2_Silent_p.D86D|MRAS_ENST00000464896.1_Silent_p.D10D NM_001085049.2|NM_001252090.1|NM_001252091.1|NM_012219.4 NP_001078518.1|NP_001239019.1|NP_001239020.1|NP_036351.3 O14807 RASM_HUMAN muscle RAS oncogene homolog 86 actin cytoskeleton organization|muscle organ development|Ras protein signal transduction intracellular|plasma membrane GTP binding|GTP-dependent protein binding|GTPase activity kidney(1)|large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 14 GCACGGGGGATGGCTTCCTCA 0.592000 26 44 0 0 1 0 0 FILIP1 27145 broad.mit.edu 37 6 76023163 76023163 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:76023163C>T ENST00000393004.2 - 5 2606 c.2385G>A c.(2383-2385)atG>atA p.M795I FILIP1_ENST00000370020.1_Missense_Mutation_p.M696I|FILIP1_ENST00000498523.1_5'UTR|FILIP1_ENST00000237172.7_Missense_Mutation_p.M795I Q7Z7B0 FLIP1_HUMAN filamin A interacting protein 1 795 breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4) 80 GAACATCCACCATTCTTCTTC 0.498000 150 67 0 0 1 0 0 SIRPG 55423 broad.mit.edu 37 20 1617025 1617025 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr20:1617025C>T ENST00000381580.1 - 3 637 c.458G>A c.(457-459)gGg>gAg p.G153E SIRPG_ENST00000381583.2_Missense_Mutation_p.G186E|SIRPG_ENST00000216927.4_Missense_Mutation_p.G186E|RP11-77C3.3_ENST00000456177.1_RNA|SIRPG_ENST00000344103.4_Intron|SIRPG_ENST00000303415.3_Missense_Mutation_p.G186E Q9P1W8 SIRPG_HUMAN signal-regulatory protein gamma 186 Ig-like C1-type 1. blood coagulation|cell adhesion|cell junction assembly|cell-cell signaling|intracellular signal transduction|leukocyte migration|negative regulation of cell proliferation|positive regulation of cell proliferation|positive regulation of cell-cell adhesion|positive regulation of T cell activation integral to membrane|intracellular|plasma membrane protein binding breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|stomach(1) 27 GAGCTCATTCCCATTTTTGAA 0.577000 41 111 0 0 1 0 0 CADPS 8618 broad.mit.edu 37 3 62570915 62570915 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:62570915G>A ENST00000383710.4 - 8 1871 c.1522C>T c.(1522-1524)Ctc>Ttc p.L508F CADPS_ENST00000357948.3_Missense_Mutation_p.L508F|CADPS_ENST00000283269.9_Missense_Mutation_p.L508F NM_003716.3 NP_003707.2 Q9ULU8 CAPS1_HUMAN Ca++-dependent secretion activator 508 exocytosis|protein transport cell junction|cytoplasmic vesicle membrane|cytosol|synapse lipid binding|metal ion binding breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2) 92 Lung SC(41;0.0452) BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334) TTGATTTTGAGATCTTGGTCG 0.468000 40 121 0 0 1 0 0 OR10C1 442194 broad.mit.edu 37 6 29408399 29408399 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:29408399G>A ENST00000444197.2 + 1 1317 c.607G>A c.(607-609)Gcc>Acc p.A203T OR11A1_ENST00000377149.1_Intron NM_013941.3 NP_039229.3 Q96KK4 O10C1_HUMAN olfactory receptor, family 10, subfamily C, member 1 (gene/pseudogene) 203 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(2)|kidney(1)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 27 CCTGGCAACAGCCCTCCTCAT 0.582000 135 301 0 0 1 0 0 BDP1 55814 broad.mit.edu 37 5 70855920 70855920 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:70855920C>T ENST00000358731.4 + 37 7615 c.7352C>T c.(7351-7353)tCt>tTt p.S2451F BDP1_ENST00000380675.2_3'UTR NM_018429.2 NP_060899.2 A6H8Y1 BDP1_HUMAN B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB 2451 regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter nucleoplasm DNA binding NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 72 Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50) GGATCTAGATCTCCTGATGCA 0.433000 42 68 0 0 1 0 0 NEU4 129807 broad.mit.edu 37 2 242755795 242755795 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:242755795C>T ENST00000391969.2 + 3 825 c.114C>T c.(112-114)gcC>gcT p.A38A NEU4_ENST00000404257.1_Silent_p.A50A|NEU4_ENST00000405370.1_Silent_p.A38A|NEU4_ENST00000407683.1_Silent_p.A38A|NEU4_ENST00000325935.6_Silent_p.A51A NM_001167602.1 NP_001161074.1 Q8WWR8 NEUR4_HUMAN sialidase 4 38 lysosomal lumen|organelle inner membrane exo-alpha-sialidase activity|protein binding breast(1)|lung(10)|prostate(2)|skin(2) 15 all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244) Epithelial(32;3.84e-33)|all cancers(36;8.08e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.41e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0825) CCCTGCTGGCCTTTGTGGAGC 0.726000 5 36 0 0 1 0 0 HOMEZ 57594 broad.mit.edu 37 14 23745083 23745083 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr14:23745083G>A ENST00000357460.5 - 2 1518 c.1354C>T c.(1354-1356)Cca>Tca p.P452S HOMEZ_ENST00000561013.1_Missense_Mutation_p.P454S|HOMEZ_ENST00000431326.2_Missense_Mutation_p.P454S NM_020834.2 NP_065885.2 Q8IX15 HOMEZ_HUMAN homeobox and leucine zipper encoding 452 Pro-rich. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(5)|lung(7) 12 all_cancers(95;5.54e-06) GBM - Glioblastoma multiforme(265;0.00643) GGCAGAGGTGGTGTCTCAGCC 0.562000 15 30 0 0 1 0 0 FNDC3A 22862 broad.mit.edu 37 13 49765166 49765166 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr13:49765166C>T ENST00000492622.2 + 18 2265 c.1960C>T c.(1960-1962)Ctt>Ttt p.L654F FNDC3A_ENST00000541916.1_Missense_Mutation_p.L654F|FNDC3A_ENST00000398316.3_Missense_Mutation_p.L598F NM_001079673.1 NP_001073141.1 Q9Y2H6 FND3A_HUMAN fibronectin type III domain containing 3A 654 Fibronectin type-III 4. Golgi membrane|integral to membrane endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|prostate(5)|skin(2)|urinary_tract(1) 41 all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19) KIRC - Kidney renal clear cell carcinoma(9;0.206) GBM - Glioblastoma multiforme(99;2.94e-09) TGAATCTTTACTTGTGCAGAC 0.408000 8 112 0 0 1 0 0 MRPL11 65003 broad.mit.edu 37 11 66206166 66206166 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:66206166G>A ENST00000310999.7 - 1 153 c.60C>T c.(58-60)atC>atT p.I20I MRPL11_ENST00000524576.1_Intron|MRPL11_ENST00000430466.2_Intron|MRPL11_ENST00000329819.4_Silent_p.I20I NM_016050.3 NP_057134.1 Q9Y3B7 RM11_HUMAN mitochondrial ribosomal protein L11 20 translation structural constituent of ribosome endometrium(3)|lung(2)|ovary(1)|prostate(1) 7 CGATCGCCCGGATCACACCGC 0.721000 5 49 0 0 1 0 0 THBS1 7057 broad.mit.edu 37 15 39884972 39884972 + Silent SNP C C T rs146172408 byFrequency TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr15:39884972C>T ENST00000260356.5 + 17 2901 c.2736C>T c.(2734-2736)ctC>ctT p.L912L NM_003246.2 NP_003237.2 P07996 TSP1_HUMAN thrombospondin 1 912 activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of caspase activity|negative regulation of cGMP-mediated signaling|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 53 all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223) GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105) Becaplermin(DB00102) ACTGCAGACTCGTGCCCAATC 0.517000 10 41 0 0 1 0 0 PIGO 84720 broad.mit.edu 37 9 35092218 35092218 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:35092218G>A ENST00000378617.3 - 7 2060 c.1666C>T c.(1666-1668)Cgc>Tgc p.R556C PIGO_ENST00000341666.3_Missense_Mutation_p.R556C|PIGO_ENST00000361778.2_Intron|PIGO_ENST00000298004.5_Intron NM_032634.3 NP_116023.2 Q8TEQ8 PIGO_HUMAN phosphatidylinositol glycan anchor biosynthesis, class O 556 C-terminal protein lipidation|preassembly of GPI anchor in ER membrane endoplasmic reticulum membrane|integral to membrane transferase activity endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3) 38 LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778) ACAGCCAAGCGAAACAGCAGG 0.577000 30 66 0 0 1 0 0 KLK6 5653 broad.mit.edu 37 19 51466732 51466732 + Missense_Mutation SNP G G A rs145988076 byFrequency TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:51466732G>A ENST00000376851.3 - 4 710 c.271C>T c.(271-273)Cgg>Tgg p.R91W KLK6_ENST00000594641.1_Missense_Mutation_p.R91W|KLK6_ENST00000310157.2_Missense_Mutation_p.R91W|KLK6_ENST00000376853.4_Intron|KLK6_ENST00000424910.2_Silent_p.S38S|CTB-147C22.8_ENST00000601506.1_RNA|KLK6_ENST00000391808.1_5'UTR NM_001012964.1 NP_001012982.1 Q92876 KLK6_HUMAN kallikrein-related peptidase 6 91 Peptidase S1. amyloid precursor protein metabolic process|central nervous system development|collagen catabolic process|hormone metabolic process|myelination|positive regulation of G-protein coupled receptor protein signaling pathway|protein autoprocessing|proteolysis|regulation of cell differentiation|tissue regeneration endoplasmic reticulum|extracellular region|microsome|mitochondrion|nucleolus protein binding|serine-type endopeptidase activity endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|skin(4) 13 all_neural(266;0.026) OV - Ovarian serous cystadenocarcinoma(262;0.00372)|GBM - Glioblastoma multiforme(134;0.00871) ATCACAGCCCGGACAACAGAA 0.577000 9 103 0 0 1 0 0 PCDHA8 56140 broad.mit.edu 37 5 140221502 140221502 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:140221502C>T ENST00000531613.1 + 1 596 c.596C>T c.(595-597)tCc>tTc p.S199F PCDHA8_ENST00000378123.3_Missense_Mutation_p.S199F|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron NM_018911.2 NP_061734.1 NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6) 78 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TTAAGAAAATCCTTGGACAGA 0.478000 34 76 0 0 1 0 0 MYH15 22989 broad.mit.edu 37 3 108179190 108179190 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:108179190C>T ENST00000273353.3 - 18 2005 c.1949G>A c.(1948-1950)cGa>cAa p.R650Q MYH15_ENST00000495753.2_5'UTR NM_014981.1 NP_055796.1 Q9Y2K3 MYH15_HUMAN myosin, heavy chain 15 650 Myosin head-like. myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 105 TCCTTTCTTTCGTTTCTTCTC 0.318000 9 27 0 0 1 0 0 GRIK1 2897 broad.mit.edu 37 21 31062188 31062188 + Nonsense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr21:31062188C>T ENST00000399914.1 - 3 925 c.404G>A c.(403-405)tGg>tAg p.W135* GRIK1_ENST00000309434.7_Nonsense_Mutation_p.W135*|GRIK1_ENST00000327783.4_Nonsense_Mutation_p.W135*|GRIK1_ENST00000399909.1_Nonsense_Mutation_p.W135*|GRIK1_ENST00000389124.2_Nonsense_Mutation_p.W135*|GRIK1_ENST00000389125.3_Nonsense_Mutation_p.W135*|GRIK1_ENST00000535441.1_Nonsense_Mutation_p.W135*|GRIK1_ENST00000399913.1_Nonsense_Mutation_p.W135*|GRIK1_ENST00000472429.1_5'UTR|GRIK1_ENST00000399907.1_Nonsense_Mutation_p.W135* P39086 GRIK1_HUMAN glutamate receptor, ionotropic, kainate 1 135 central nervous system development|synaptic transmission cell junction|postsynaptic membrane kainate selective glutamate receptor activity NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1) 45 L-Glutamic Acid(DB00142)|Topiramate(DB00273) GGGGTGTTTCCAGCGGGTCTG 0.502000 53 216 0 0 1 0 0 C4orf40 401137 broad.mit.edu 37 4 71024249 71024249 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:71024249C>T ENST00000344526.5 + 3 469 c.280C>T c.(280-282)Ccc>Tcc p.P94S C4orf40_ENST00000502294.1_Missense_Mutation_p.P94S|C4orf40_ENST00000502441.2_Intron NM_214711.3 NP_999876.2 Q6MZM9 CD040_HUMAN chromosome 4 open reading frame 40 94 extracellular region breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 12 CCGTGGTTTTCCCTTAGCTAC 0.507000 98 211 0 0 1 0 0 PPARA 5465 broad.mit.edu 37 22 46615714 46615714 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr22:46615714C>T ENST00000396000.2 + 6 779 c.514C>T c.(514-516)Cgt>Tgt p.R172C PPARA_ENST00000434345.2_Intron|PPARA_ENST00000402126.1_Missense_Mutation_p.R172C|PPARA_ENST00000262735.5_Missense_Mutation_p.R172C|PPARA_ENST00000407236.1_Missense_Mutation_p.R172C Q07869 PPARA_HUMAN peroxisome proliferator-activated receptor alpha 172 fatty acid metabolic process|fatty acid transport|negative regulation of appetite|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|negative regulation of receptor biosynthetic process|negative regulation of sequestering of triglyceride|negative regulation of transcription from RNA polymerase II promoter|positive regulation of fatty acid beta-oxidation|regulation of cellular ketone metabolic process by positive regulation of transcription from an RNA polymerase II promoter|regulation of glycolysis by positive regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by positive regulation of transcription from an RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm drug binding|ligand-regulated transcription factor activity|lipid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|ubiquitin conjugating enzyme binding|zinc ion binding p.R172C(1) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 15 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.00522) Atorvastatin(DB01076)|Bezafibrate(DB01393)|Clofibrate(DB00636)|Fenofibrate(DB01039)|Gemfibrozil(DB01241)|Simvastatin(DB00641) CCTAGCGATTCGTTTTGGACG 0.493000 10 84 0 0 1 0 0 NDUFS7 374291 broad.mit.edu 37 19 1390896 1390896 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:1390896C>T ENST00000313408.7 + 5 278 c.255C>T c.(253-255)ggC>ggT p.G85G NDUFS7_ENST00000539480.1_Silent_p.G85G|NDUFS7_ENST00000540530.1_3'UTR|NDUFS7_ENST00000414651.2_Silent_p.G115G|NDUFS7_ENST00000546283.1_Silent_p.G85G|NDUFS7_ENST00000233627.9_Silent_p.G85G O75251 NDUS7_HUMAN NADH dehydrogenase (ubiquinone) Fe-S protein 7, 20kDa (NADH-coenzyme Q reductase) 85 mitochondrial electron transport, NADH to ubiquinone|mitochondrial respiratory chain complex I assembly|transport mitochondrial respiratory chain complex I 4 iron, 4 sulfur cluster binding|metal ion binding|NADH dehydrogenase (ubiquinone) activity|protein binding|quinone binding ovary(1) 1 Acute lymphoblastic leukemia(61;5.61e-13)|all_hematologic(61;2.65e-08)|Breast(49;0.00186)|Lung NSC(49;0.00292)|all_lung(49;0.00419) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) NADH(DB00157) TGACCTTCGGCCTGGCCTGCT 0.706000 20 54 0 0 1 0 0 ARPP21 10777 broad.mit.edu 37 3 35835268 35835268 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:35835268G>A ENST00000187397.4 + 20 2713 c.2257G>A c.(2257-2259)Ggt>Agt p.G753S ARPP21_ENST00000458225.1_Missense_Mutation_p.G754S|ARPP21_ENST00000444190.1_Missense_Mutation_p.G734S|ARPP21_ENST00000417925.1_Missense_Mutation_p.G754S|ARPP21_ENST00000337271.5_Missense_Mutation_p.G734S|ARPP21_ENST00000476052.1_3'UTR NM_016300.4 NP_057384.2 Q9UBL0 ARP21_HUMAN cAMP-regulated phosphoprotein, 21kDa 753 Gln-rich. cytoplasm nucleic acid binding cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 61 TAACCAGGCAGGTCAAGGGTC 0.542000 43 69 0 0 1 0 0 GPR98 84059 broad.mit.edu 37 5 90041526 90041526 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:90041526G>A ENST00000405460.2 + 52 10984 c.10888G>A c.(10888-10890)Gga>Aga p.G3630R NM_032119.3 NP_115495.3 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 3630 cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity p.G3630R(1) NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6) 269 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) AAATCCCAAAGGAGGAGCAGA 0.363000 23 42 0 0 1 0 0 C1orf116 79098 broad.mit.edu 37 1 207196484 207196484 + Missense_Mutation SNP G G C TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:207196484G>C ENST00000359470.5 - 4 874 c.625C>G c.(625-627)Cca>Gca p.P209A C1orf116_ENST00000461135.2_5'UTR NM_023938.5 NP_076427.2 Q9BW04 SARG_HUMAN chromosome 1 open reading frame 116 209 cytoplasm|plasma membrane receptor activity autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(4)|stomach(1) 29 Prostate(682;0.19) CACTGCTCTGGCTGGGTGTCC 0.662000 10 319 0 0 1 0 0 FRAS1 80144 broad.mit.edu 37 4 79460483 79460483 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:79460483C>T ENST00000264895.6 + 73 11774 c.11334C>T c.(11332-11334)ttC>ttT p.F3778F NM_025074.6 NP_079350.5 Q86XX4 FRAS1_HUMAN Fraser syndrome 1 3773 cell communication integral to membrane|plasma membrane metal ion binding breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4) 103 ATAAGTACTTCCATGATGTGC 0.423000 38 82 0 0 1 0 0 SCML2 10389 broad.mit.edu 37 X 18264805 18264805 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chrX:18264805C>T ENST00000251900.4 - 13 1873 c.1714G>A c.(1714-1716)Gat>Aat p.D572N SCML2_ENST00000398048.3_Missense_Mutation_p.D308N NM_006089.2 NP_006080.1 Q9UQR0 SCML2_HUMAN sex comb on midleg-like 2 (Drosophila) 572 anatomical structure morphogenesis PcG protein complex DNA binding|sequence-specific DNA binding transcription factor activity breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 36 Hepatocellular(33;0.183) CGAGAAAAATCCTGGGAGACT 0.413000 106 23 0 0 1 0 0 SOS2 6655 broad.mit.edu 37 14 50666539 50666539 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr14:50666539G>A ENST00000216373.5 - 4 654 c.380C>T c.(379-381)tCc>tTc p.S127F SOS2_ENST00000543680.1_Missense_Mutation_p.S127F NM_006939.2 NP_008870.2 Q07890 SOS2_HUMAN son of sevenless homolog 2 (Drosophila) 127 apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol DNA binding|protein binding|Rho guanyl-nucleotide exchange factor activity cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(16)|ovary(2)|skin(1) 39 all_epithelial(31;0.000822)|Breast(41;0.0065) AATATATAGGGATACATGGTA 0.308000 54 91 0 0 1 0 0 CTCFL 140690 broad.mit.edu 37 20 56087690 56087690 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr20:56087690C>T ENST00000429804.2 - 7 1859 c.1299G>A c.(1297-1299)gaG>gaA p.E433E CTCFL_ENST00000502686.2_Silent_p.E221E|CTCFL_ENST00000243914.3_Silent_p.E483E|CTCFL_ENST00000433949.2_Silent_p.E483E|CTCFL_ENST00000432255.2_Intron|CTCFL_ENST00000422109.2_Intron|CTCFL_ENST00000426658.2_3'UTR|CTCFL_ENST00000423479.2_Silent_p.E483E|CTCFL_ENST00000422869.2_Silent_p.E483E|CTCFL_ENST00000539382.1_Silent_p.E278E|CTCFL_ENST00000371196.2_Silent_p.E483E NM_001269046.1 NP_001255975.1 Q8NI51 CTCFL_HUMAN CCCTC-binding factor (zinc finger protein)-like 483 cell cycle|DNA methylation involved in gamete generation|histone methylation|positive regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|regulation of histone H3-K4 methylation|transcription, DNA-dependent cytoplasm|nucleus histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242) BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07) TGAACCTCTTCTCATTCTTAT 0.473000 41 79 0 0 1 0 0 DNAH7 56171 broad.mit.edu 37 2 196640651 196640651 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:196640651G>A ENST00000312428.6 - 60 11221 c.11121C>T c.(11119-11121)atC>atT p.I3707I DNAH7_ENST00000409063.1_Silent_p.I190I NM_018897.2 NP_061720.2 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 3707 ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3) 205 TCATCCCAAAGATTTCTGGTG 0.408000 31 70 0 0 1 0 0 SPTLC3 55304 broad.mit.edu 37 20 13029636 13029636 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr20:13029636C>T ENST00000399002.2 + 2 435 c.161C>T c.(160-162)tCg>tTg p.S54L SPTLC3_ENST00000476791.1_3'UTR|SPTLC3_ENST00000378194.4_Missense_Mutation_p.S54L NM_018327.2 NP_060797.2 Q9NUV7 SPTC3_HUMAN serine palmitoyltransferase, long chain base subunit 3 54 sphingoid biosynthetic process integral to membrane|serine C-palmitoyltransferase complex pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups breast(1)|endometrium(1)|large_intestine(7)|lung(14)|skin(1)|urinary_tract(1) 25 Pyridoxal Phosphate(DB00114) ATTGTTGAATCGTTTGAGGAA 0.378000 89 170 0 0 1 0 0 BAGE2 85319 broad.mit.edu 37 21 11098803 11098803 + RNA SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr21:11098803C>T ENST00000470054.1 - 0 122 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) gcgctgccatctctgttgcca 0.632000 29 139 0 0 1 0 0 ZNF835 90485 broad.mit.edu 37 19 57175356 57175356 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:57175356G>A ENST00000537055.2 - 2 1442 c.1211C>T c.(1210-1212)tCg>tTg p.S404L NM_001005850.2 NP_001005850.2 zinc finger protein 835 endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3) 47 CTCTATAAGCGAGGACACGTG 0.657000 24 46 0 0 1 0 0 KCNMB2 10242 broad.mit.edu 37 3 178560518 178560518 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:178560518G>A ENST00000432997.1 + 5 853 c.501G>A c.(499-501)agG>agA p.R167R RP11-385J1.2_ENST00000425330.1_RNA|KCNMB2_ENST00000358316.3_Silent_p.R167R|RP11-385J1.2_ENST00000432385.1_RNA|KCNMB2_ENST00000452583.1_Silent_p.R167R|RP11-385J1.2_ENST00000437488.1_RNA|KCNMB2_ENST00000420517.2_Silent_p.R167R|RP11-385J1.2_ENST00000451742.1_RNA NM_005832.3 NP_005823.1 Q9Y691 KCMB2_HUMAN potassium large conductance calcium-activated channel, subfamily M, beta member 2 167 detection of calcium ion|platelet activation|regulation of action potential in neuron|regulation of vasoconstriction voltage-gated potassium channel complex calcium-activated potassium channel activity|ion channel inhibitor activity|potassium channel regulator activity NS(2)|endometrium(4)|large_intestine(1)|lung(3)|ovary(1)|prostate(1) 12 all_cancers(143;5.38e-18)|Ovarian(172;0.00769)|Breast(254;0.125) OV - Ovarian serous cystadenocarcinoma(80;1.32e-27)|GBM - Glioblastoma multiforme(14;0.0321)|BRCA - Breast invasive adenocarcinoma(182;0.0841) AAAACTTCAGGAAGTATCAAC 0.393000 27 88 0 0 1 0 0 LRRC4C 57689 broad.mit.edu 37 11 40137328 40137328 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:40137328G>A ENST00000278198.2 - 2 2478 c.515C>T c.(514-516)cCt>cTt p.P172L LRRC4C_ENST00000527150.1_Missense_Mutation_p.P172L|LRRC4C_ENST00000530763.1_Missense_Mutation_p.P172L|LRRC4C_ENST00000528697.1_Missense_Mutation_p.P172L Q9HCJ2 LRC4C_HUMAN leucine rich repeat containing 4C 172 regulation of axonogenesis integral to membrane protein binding NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 86 all_lung(304;0.0575)|Lung NSC(402;0.138) GCGCAAAGAAGGAATTCTGTT 0.428000 38 86 0 0 1 0 0 IGHV3-64 28414 broad.mit.edu 37 14 107114168 107114168 + RNA SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr14:107114168G>A ENST00000454421.2 - 0 106 TAGCAACAAGGAAAACCCAGC 0.468000 65 187 0 0 1 0 0 CCDC129 223075 broad.mit.edu 37 7 31682371 31682371 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:31682371G>A ENST00000319386.3 + 11 1936 c.943G>A c.(943-945)Gta>Ata p.V315I CCDC129_ENST00000451887.2_Missense_Mutation_p.V489I|CCDC129_ENST00000409210.1_Missense_Mutation_p.V371I|CCDC129_ENST00000407970.3_Missense_Mutation_p.V463I Q6ZRS4 CC129_HUMAN coiled-coil domain containing 129 463 cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31) 44 CCACAGCTTAGTATCATCCCA 0.507000 42 82 0 0 1 0 0 SHROOM3 57619 broad.mit.edu 37 4 77680845 77680845 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:77680845G>A ENST00000296043.6 + 9 6299 c.5346G>A c.(5344-5346)aaG>aaA p.K1782K RP11-359D14.3_ENST00000449007.1_RNA NM_020859.3 NP_065910.3 Q8TF72 SHRM3_HUMAN shroom family member 3 1782 ASD2. apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule actin binding NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1) 60 Lung(101;0.0903) TCAATGAAAAGAAGGTAAATA 0.463000 16 28 0 0 1 0 0 TK1 7083 broad.mit.edu 37 17 76178710 76178710 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:76178710G>A ENST00000588734.1 - 4 501 c.263C>T c.(262-264)gCc>gTc p.A88V TK1_ENST00000405273.1_Missense_Mutation_p.A88V|TK1_ENST00000590862.1_Missense_Mutation_p.A88V|TK1_ENST00000590430.1_Intron|TK1_ENST00000301634.7_Missense_Mutation_p.A88V P04183 KITH_HUMAN thymidine kinase 1, soluble 88 DNA replication|protein homotetramerization|pyrimidine base metabolic process|pyrimidine nucleoside salvage cytosol ATP binding|thymidine kinase activity|zinc ion binding endometrium(1)|large_intestine(1)|urinary_tract(2) 4 BRCA - Breast invasive adenocarcinoma(99;0.00269)|OV - Ovarian serous cystadenocarcinoma(97;0.0804)|Lung(188;0.23) CACGCCCAGGGCCTCCTGGGC 0.622000 4 24 0 0 1 0 0 F11 2160 broad.mit.edu 37 4 187201418 187201418 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:187201418G>A ENST00000264692.4 + 9 1084 c.751G>A c.(751-753)Gga>Aga p.G251R F11_ENST00000403665.2_Missense_Mutation_p.G303R P03951 FA11_HUMAN coagulation factor XI 303 Apple 3. blood coagulation, intrinsic pathway|plasminogen activation|positive regulation of fibrinolysis extracellular space|plasma membrane heparin binding|serine-type endopeptidase activity NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 32 all_cancers(14;6.2e-52)|all_epithelial(14;1.62e-38)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|all_neural(102;0.202) OV - Ovarian serous cystadenocarcinoma(60;2.13e-11)|BRCA - Breast invasive adenocarcinoma(30;4.59e-06)|GBM - Glioblastoma multiforme(59;0.000149)|STAD - Stomach adenocarcinoma(60;0.000314)|LUSC - Lung squamous cell carcinoma(40;0.00112)|READ - Rectum adenocarcinoma(43;0.176) Coagulation Factor IX(DB00100) TGATTTCTTGGGAGAAGAACT 0.498000 40 127 0 0 1 0 0 C10orf107 219621 broad.mit.edu 37 10 63450332 63450332 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:63450332G>A ENST00000330194.2 + 4 546 c.241G>A c.(241-243)Gag>Aag p.E81K NM_173554.2 NP_775825.1 Q8IVU9 CJ107_HUMAN chromosome 10 open reading frame 107 81 breast(1)|kidney(1)|lung(4)|prostate(1)|skin(1) 8 Prostate(12;0.016) CAAGCTATACGAGTTTATGTT 0.313000 27 57 0 0 1 0 0 USH2A 7399 broad.mit.edu 37 1 215933057 215933057 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:215933057G>A ENST00000366943.2 - 57 11562 c.11176C>T c.(11176-11178)Ctg>Ttg p.L3726L USH2A_ENST00000307340.3_Silent_p.L3726L O75445 USH2A_HUMAN Usher syndrome 2A (autosomal recessive, mild) 3726 Fibronectin type-III 22. maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3) 527 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) CTGCCACCCAGGAAAAGCAAG 0.403000 HNSCC(13;0.011) 77 94 0 0 1 0 0 TRIM55 84675 broad.mit.edu 37 8 67049401 67049401 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:67049401G>A ENST00000315962.4 + 4 952 c.579G>A c.(577-579)ctG>ctA p.L193L TRIM55_ENST00000353317.5_Silent_p.L193L|TRIM55_ENST00000350034.4_Silent_p.L193L|TRIM55_ENST00000276573.7_Silent_p.L193L NM_184085.1 NP_908973.1 Q9BYV6 TRI55_HUMAN tripartite motif containing 55 193 cytoplasm|microtubule|nucleus signal transducer activity|zinc ion binding breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2) 39 Lung NSC(129;0.138)|all_lung(136;0.221) Epithelial(68;0.0136)|all cancers(69;0.0582)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904) TCAGCCAGCTGGAAGACACCT 0.522000 26 47 0 0 1 0 0 GLYAT 10249 broad.mit.edu 37 11 58478199 58478199 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:58478199G>A ENST00000344743.3 - 5 493 c.352C>T c.(352-354)Ctt>Ttt p.L118F GLYAT_ENST00000529732.1_Missense_Mutation_p.L118F|GLYAT_ENST00000278400.3_Missense_Mutation_p.L118F NM_201648.2 NP_964011.2 Q6IB77 GLYAT_HUMAN glycine-N-acyltransferase 118 acyl-CoA metabolic process|response to toxin|xenobiotic metabolic process mitochondrial matrix glycine N-acyltransferase activity|glycine N-benzoyltransferase activity NS(1)|autonomic_ganglia(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1) 16 Breast(21;0.0044)|all_epithelial(135;0.0157) Glycine(DB00145) ATGGCTGCAAGATTTTGTATA 0.408000 46 92 0 0 1 0 0 CSMD2 114784 broad.mit.edu 37 1 34049300 34049300 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:34049300G>A ENST00000373381.4 - 47 7358 c.7182C>T c.(7180-7182)tcC>tcT p.S2394S NM_052896.3 NP_443128.2 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 2396 CUB 14. integral to membrane|plasma membrane protein binding NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1) 246 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) CCACTGTGAGGGAGATGTTAT 0.507000 57 150 0 0 1 0 0 NRAP 4892 broad.mit.edu 37 10 115391294 115391294 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:115391294G>A ENST00000369358.4 - 18 2084 c.1840C>T c.(1840-1842)Ctg>Ttg p.L614L NRAP_ENST00000359988.3_Silent_p.L606L|NRAP_ENST00000369360.3_Silent_p.L579L|NRAP_ENST00000360478.3_Silent_p.L571L Q86VF7 NRAP_HUMAN nebulin-related anchoring protein 606 fascia adherens|muscle tendon junction actin binding|muscle alpha-actinin binding|zinc ion binding autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 95 Colorectal(252;0.0233)|Breast(234;0.188) Epithelial(162;0.00392)|all cancers(201;0.00569) GCAATCTGCAGGGAGTGCAGA 0.408000 61 129 0 0 1 0 0 MYO18B 84700 broad.mit.edu 37 22 26423623 26423623 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr22:26423623G>A ENST00000335473.7 + 43 7933 c.7683G>A c.(7681-7683)atG>atA p.M2561I MYO18B_ENST00000536101.1_Missense_Mutation_p.M2561I|MYO18B_ENST00000407587.2_Missense_Mutation_p.M2562I NM_032608.5 NP_115997.5 Q8IUG5 MY18B_HUMAN myosin XVIIIB 2561 nucleus|sarcomere|unconventional myosin complex actin binding|ATP binding|motor activity NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 146 CGAGCATAATGAAGAAATACC 0.567000 9 24 0 0 1 0 0 EPHA6 285220 broad.mit.edu 37 3 97356828 97356828 + Missense_Mutation SNP C C T rs61732635 TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:97356828C>T ENST00000389672.5 + 14 2724 c.2686C>T c.(2686-2688)Cgg>Tgg p.R896W EPHA6_ENST00000514100.1_Missense_Mutation_p.R288W|EPHA6_ENST00000442602.2_3'UTR|EPHA6_ENST00000502694.1_Missense_Mutation_p.R288W NM_001080448.2 NP_001073917.2 Q9UF33 EPHA6_HUMAN EPH receptor A6 801 Protein kinase. integral to plasma membrane ATP binding|ephrin receptor activity NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2) 101 CCTAGCGGCTCGGAATATACT 0.448000 61 113 0 0 1 0 0 MKL2 57496 broad.mit.edu 37 16 14341249 14341249 + Missense_Mutation SNP T T C TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr16:14341249T>C ENST00000571589.1 + 12 2304 c.2132T>C c.(2131-2133)gTt>gCt p.V711A MKL2_ENST00000318282.5_Intron|MKL2_ENST00000574045.1_Intron|MKL2_ENST00000341243.5_Missense_Mutation_p.V700A NM_014048.3 NP_054767.3 Q9ULH7 MKL2_HUMAN MKL/myocardin-like 2 700 Gln-rich. cell differentiation|muscle organ development|positive regulation of striated muscle tissue development|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent identical protein binding|nucleic acid binding|transcription coactivator activity breast(3)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(6)|liver(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 CCTGCTGTTGTTGCTCAGCCC 0.587000 15 55 0 0 1 0 0 CCDC27 148870 broad.mit.edu 37 1 3672074 3672074 + Missense_Mutation SNP T T G TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:3672074T>G ENST00000294600.2 + 3 580 c.496T>G c.(496-498)Tgg>Ggg p.W166G NM_152492.2 NP_689705.2 Q2M243 CCD27_HUMAN coiled-coil domain containing 27 166 breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(2)|lung(17)|prostate(1)|skin(2)|urinary_tract(2) 36 all_cancers(77;0.0385)|Ovarian(185;0.0634)|Lung NSC(156;0.21)|all_lung(157;0.218) all_epithelial(116;5.52e-17)|all_lung(118;1.04e-06)|Lung NSC(185;0.000214)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Lung SC(97;0.0367)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127) Epithelial(90;1.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.35e-22)|GBM - Glioblastoma multiforme(42;3.46e-16)|Colorectal(212;1.17e-05)|COAD - Colon adenocarcinoma(227;5.76e-05)|Kidney(185;0.00036)|BRCA - Breast invasive adenocarcinoma(365;0.000696)|KIRC - Kidney renal clear cell carcinoma(229;0.00558)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203) CTCGGAGACCTGGAGAGGCAC 0.612000 121 345 0 0 1 0 0 CAMK1G 57172 broad.mit.edu 37 1 209778894 209778894 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:209778894G>A ENST00000009105.1 + 5 555 c.310G>A c.(310-312)Gag>Aag p.E104K CAMK1G_ENST00000361322.2_Missense_Mutation_p.E104K Q96NX5 KCC1G_HUMAN calcium/calmodulin-dependent protein kinase IG 104 Protein kinase. Golgi membrane|plasma membrane ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity breast(2)|central_nervous_system(1)|large_intestine(8)|lung(8)|stomach(1) 20 OV - Ovarian serous cystadenocarcinoma(81;0.0475) TTCTGGTGGGGAGCTCTTTGA 0.498000 97 124 0 0 1 0 0 DGKK 139189 broad.mit.edu 37 X 50113510 50113510 + RNA SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chrX:50113510C>T ENST00000376025.2 - 0 3709 Q5KSL6 DGKK_HUMAN diacylglycerol kinase, kappa activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress cytoplasm|plasma membrane ATP binding|diacylglycerol kinase activity|metal ion binding central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 Ovarian(276;0.236) ACTTAATTTTCAGCCTGAGGC 0.423000 5 4 0 0 1 0 0 CACNA1B 774 broad.mit.edu 37 9 140991032 140991032 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:140991032C>T ENST00000277549.5 + 37 5342 c.2773C>T c.(2773-2775)Cgg>Tgg p.R925W CACNA1B_ENST00000277551.2_Missense_Mutation_p.R1731W|CACNA1B_ENST00000371355.4_Missense_Mutation_p.R1732W|CACNA1B_ENST00000371357.1_Missense_Mutation_p.R1730W|CACNA1B_ENST00000371363.1_Missense_Mutation_p.R1729W|CACNA1B_ENST00000371365.2_Missense_Mutation_p.R95W|CACNA1B_ENST00000371372.1_Missense_Mutation_p.R1731W Q00975 CAC1B_HUMAN calcium channel, voltage-dependent, N type, alpha 1B subunit 1731 membrane depolarization|synaptic transmission voltage-gated calcium channel complex ATP binding|protein C-terminus binding|voltage-gated calcium channel activity NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2) 80 all_cancers(76;0.166) OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476) Amlodipine(DB00381)|Gabapentin(DB00996) TGAGTTCATCCGGGTCTGGGC 0.562000 42 46 0 0 1 0 0 EPB41L2 2037 broad.mit.edu 37 6 131229974 131229974 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:131229974C>T ENST00000337057.3 - 5 1021 c.840G>A c.(838-840)aaG>aaA p.K280K EPB41L2_ENST00000525271.1_Silent_p.K280K|EPB41L2_ENST00000525193.1_Silent_p.K280K|EPB41L2_ENST00000527411.1_Silent_p.K280K|EPB41L2_ENST00000530481.1_Silent_p.K280K|EPB41L2_ENST00000528282.1_Silent_p.K280K|EPB41L2_ENST00000445890.2_Silent_p.K280K|EPB41L2_ENST00000368128.2_Silent_p.K280K|EPB41L2_ENST00000527659.1_Silent_p.K280K|EPB41L2_ENST00000529208.1_Silent_p.K280K|EPB41L2_ENST00000392427.3_Silent_p.K280K|EPB41L2_ENST00000530148.1_5'UTR NM_001431.3 NP_001422.1 O43491 E41L2_HUMAN erythrocyte membrane protein band 4.1-like 2 280 FERM. cortical actin cytoskeleton organization extrinsic to membrane|plasma membrane|spectrin actin binding|structural molecule activity autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2) 44 Breast(56;0.0639) OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355) TCAGTTGTCTCTTTATTTCTT 0.289000 33 27 0 0 1 0 0 HS6ST3 266722 broad.mit.edu 37 13 97484776 97484776 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr13:97484776C>T ENST00000376705.2 + 2 764 c.740C>T c.(739-741)cCa>cTa p.P247L NM_153456.3 NP_703157.2 Q8IZP7 H6ST3_HUMAN heparan sulfate 6-O-sulfotransferase 3 247 3'-phosphate binding (Potential). integral to membrane sulfotransferase activity NS(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(1) 20 all_neural(89;0.0878)|Medulloblastoma(90;0.163) TTACGGGATCCAGTGTCACGT 0.428000 18 16 0 0 1 0 0 IQGAP2 10788 broad.mit.edu 37 5 75969391 75969391 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:75969391C>T ENST00000274364.6 + 25 3483 c.3186C>T c.(3184-3186)atC>atT p.I1062I IQGAP2_ENST00000502745.1_Silent_p.I558I|IQGAP2_ENST00000396234.3_Silent_p.I558I|IQGAP2_ENST00000379730.3_Silent_p.I564I NM_006633.2 NP_006624.2 Q13576 IQGA2_HUMAN IQ motif containing GTPase activating protein 2 1062 Ras-GAP. small GTPase mediated signal transduction actin cytoskeleton actin binding|calmodulin binding|GTPase inhibitor activity|Ras GTPase activator activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 68 all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149) all cancers(79;1.38e-36) TGAATTCTATCATTTCTTCCC 0.418000 52 105 0 0 1 0 0 CILP2 148113 broad.mit.edu 37 19 19656475 19656475 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:19656475G>A ENST00000586018.1 + 8 3241 c.3139G>A c.(3139-3141)Gag>Aag p.E1047K CILP2_ENST00000291495.4_Missense_Mutation_p.E1041K Q8IUL8 CILP2_HUMAN cartilage intermediate layer protein 2 1041 proteinaceous extracellular matrix carbohydrate binding|carboxypeptidase activity NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1) 32 GGTGCCCGCGGAGGACCCAGC 0.667000 7 33 0 0 1 0 0 GABRA4 2557 broad.mit.edu 37 4 46930427 46930427 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:46930427C>T ENST00000264318.3 - 9 2462 c.1480G>A c.(1480-1482)Ggg>Agg p.G494R NM_000809.3|NM_001204266.1|NM_001204267.1 NP_000800.2|NP_001191195.1|NP_001191196.1 P48169 GBRA4_HUMAN gamma-aminobutyric acid (GABA) A receptor, alpha 4 494 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity p.G494W(1) NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) CCAGTAGCCCCTATGGTATTA 0.468000 45 111 0 0 1 0 0 FAT1 2195 broad.mit.edu 37 4 187541155 187541155 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:187541155G>A ENST00000441802.2 - 10 6794 c.6585C>T c.(6583-6585)atC>atT p.I2195I NM_005245.3 NP_005236.2 Q14517 FAT1_HUMAN FAT atypical cadherin 1 2195 Cadherin 20. actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4) 228 TGTGCACCTGGATGCTCTCTG 0.512000 HNSCC(5;0.00058) 9 170 0 0 1 0 0 RYR1 6261 broad.mit.edu 37 19 39001172 39001172 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:39001172C>T ENST00000355481.4 + 59 9098 c.8967C>T c.(8965-8967)tcC>tcT p.S2989S RYR1_ENST00000360985.3_Silent_p.S2989S|RYR1_ENST00000359596.3_Silent_p.S2989S NM_000540.2|NM_001042723.1 NP_000531.2|NP_001036188.1 P21817 RYR1_HUMAN ryanodine receptor 1 (skeletal) 2989 muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7) 285 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) TGGAAAAGTCCCCACATGAAC 0.567000 34 80 0 0 1 0 0 OTX1 5013 broad.mit.edu 37 2 63283012 63283012 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:63283012C>T ENST00000366671.3 + 5 902 c.626C>T c.(625-627)tCc>tTc p.S209F OTX1_ENST00000282549.2_Missense_Mutation_p.S209F NM_001199770.1 NP_001186699.1 P32242 OTX1_HUMAN orthodenticle homeobox 1 209 nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|pancreas(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 20 Lung NSC(7;0.121)|all_lung(7;0.211) ATGCAGCGCTCCGTAGCTGCA 0.682000 14 33 0 0 1 0 0 LRP1B 53353 broad.mit.edu 37 2 141081536 141081536 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:141081536G>A ENST00000389484.3 - 81 13411 c.12440C>T c.(12439-12441)tCa>tTa p.S4147L NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 4147 protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) GTACTCTACTGAACCATGGCC 0.294000 TSP Lung(27;0.18) 42 88 0 0 1 0 0 STX8 9482 broad.mit.edu 37 17 9395211 9395211 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:9395211G>A ENST00000306357.3 - 6 903 c.476C>T c.(475-477)tCc>tTc p.S159F STX8_ENST00000574431.1_Missense_Mutation_p.S48F NM_004853.2 NP_004844.1 Q9UNK0 STX8_HUMAN syntaxin 8 159 t-SNARE coiled-coil homology. transport endoplasmic reticulum|integral to plasma membrane central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|skin(1)|urinary_tract(1) 12 TATGATAGAGGAAAGGGCATC 0.383000 51 115 0 0 1 0 0 GDI2 2665 broad.mit.edu 37 10 5842579 5842579 + Silent SNP A A G TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:5842579A>G ENST00000380191.4 - 2 425 c.135T>C c.(133-135)tcT>tcC p.S45S GDI2_ENST00000380132.4_Silent_p.S49S|GDI2_ENST00000380181.3_Silent_p.S45S NM_001115156.1|NM_001494.3 NP_001108628.1|NP_001485.2 P50395 GDIB_HUMAN GDP dissociation inhibitor 2 45 protein transport|small GTPase mediated signal transduction cell surface|cytosol|membrane protein binding|Rab GDP-dissociation inhibitor activity NS(1)|breast(1)|large_intestine(1)|lung(6)|urinary_tract(1) 10 ATGGTGTTATAGATGCACTCT 0.378000 47 103 0 0 1 0 0 ENPP2 5168 broad.mit.edu 37 8 120602772 120602772 + Nonsense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:120602772G>A ENST00000427067.2 - 13 1348 c.1168C>T c.(1168-1170)Cga>Tga p.R390* ENPP2_ENST00000259486.6_Nonsense_Mutation_p.R446*|ENPP2_ENST00000075322.6_Nonsense_Mutation_p.R394*|ENPP2_ENST00000522826.1_Nonsense_Mutation_p.R394*|ENPP2_ENST00000522167.1_Nonsense_Mutation_p.R33* Q13822 ENPP2_HUMAN ectonucleotide pyrophosphatase/phosphodiesterase 2 394 cellular component movement|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|phosphate metabolic process|phosphatidylcholine catabolic process|regulation of cell migration extracellular space|integral to plasma membrane alkylglycerophosphoethanolamine phosphodiesterase activity|calcium ion binding|lysophospholipase activity|nucleic acid binding|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity|transcription factor binding|zinc ion binding breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4) 69 Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161) STAD - Stomach adenocarcinoma(47;0.00185) AATTTGGATCGAATTCTTCCT 0.333000 23 41 0 0 1 0 0 MKX 283078 broad.mit.edu 37 10 28030370 28030370 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:28030370G>A ENST00000375790.5 - 3 684 c.252C>T c.(250-252)ccC>ccT p.P84P MKX_ENST00000419761.1_Silent_p.P84P Q8IYA7 MKX_HUMAN mohawk homeobox 84 muscle organ development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)|skin(2) 16 ACTGCTTGAGGGGTCGCGCCA 0.632000 53 105 0 0 1 0 0 DYM 54808 broad.mit.edu 37 18 46645140 46645140 + Nonsense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr18:46645140G>A ENST00000269445.6 - 15 2177 c.1720C>T c.(1720-1722)Cag>Tag p.Q574* DYM_ENST00000442713.2_Nonsense_Mutation_p.Q384*|RP11-15F12.3_ENST00000585251.1_RNA NM_017653.3 NP_060123.3 Q7RTS9 DYM_HUMAN dymeclin 574 Golgi apparatus NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|skin(1)|upper_aerodigestive_tract(1) 18 ATTATATCCTGAAATGAAGGA 0.358000 24 44 0 0 1 0 0 TTC18 118491 broad.mit.edu 37 10 75113328 75113328 + Missense_Mutation SNP T T C TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:75113328T>C ENST00000401621.2 - 3 356 c.236A>G c.(235-237)cAc>cGc p.H79R TTC18_ENST00000394865.1_Missense_Mutation_p.H79R|TTC18_ENST00000340329.3_Missense_Mutation_p.H79R|TTC18_ENST00000310715.3_Missense_Mutation_p.H79R|TTC18_ENST00000355577.3_5'UTR|TTC18_ENST00000493787.1_5'UTR Q5T0N1 TTC18_HUMAN tetratricopeptide repeat domain 18 79 H -> Y (in Ref. 1; CAH10391). binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 Prostate(51;0.0119) CACAGGTTTGTGAGCGAGGTC 0.403000 29 75 0 0 1 0 0 ANK3 288 broad.mit.edu 37 10 61868749 61868749 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:61868749C>T ENST00000280772.1 - 27 3203 c.3012G>A c.(3010-3012)ggG>ggA p.G1004G ANK3_ENST00000355288.2_Silent_p.G138G|ANK3_ENST00000503366.1_Silent_p.G1005G|ANK3_ENST00000373827.2_Silent_p.G998G NM_020987.3 NP_066267.2 Q12955 ANK3_HUMAN ankyrin 3, node of Ranvier (ankyrin G) 1004 ZU5. establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 196 TGATTCTCATCCCGTGATGAC 0.552000 32 61 0 0 1 0 0 NOD2 64127 broad.mit.edu 37 16 50733521 50733521 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr16:50733521C>T ENST00000300589.2 + 2 301 c.196C>T c.(196-198)Ctc>Ttc p.L66F NOD2_ENST00000526417.2_3'UTR NM_022162.1 NP_071445.1 Q9HC29 NOD2_HUMAN nucleotide-binding oligomerization domain containing 2 66 CARD 1. activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of gamma-delta T cell activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of Notch signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cell surface|cytosol|plasma membrane|vesicle ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3) 52 all_cancers(37;0.0156) CTGGGAGGTCCTCTCCTGGGA 0.632000 45 81 0 0 1 0 0 BNC1 646 broad.mit.edu 37 15 83936890 83936890 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr15:83936890G>A ENST00000345382.2 - 2 279 c.194C>T c.(193-195)gCc>gTc p.A65V RP11-382A20.4_ENST00000565495.1_RNA|BNC1_ENST00000569704.1_Missense_Mutation_p.A58V NM_001717.3 NP_001708.3 Q01954 BNC1_HUMAN basonuclin 1 65 epidermis development|positive regulation of cell proliferation cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1) 56 GTTACCGTGGGCCACCCATCC 0.418000 22 44 0 0 1 0 0 TBX4 9496 broad.mit.edu 37 17 59557619 59557619 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:59557619C>T ENST00000393853.4 + 8 1123 c.960C>T c.(958-960)ccC>ccT p.P320P TBX4_ENST00000240335.1_Silent_p.P320P|TBX4_ENST00000589449.1_3'UTR P57082 TBX4_HUMAN T-box 4 320 leg morphogenesis|skeletal system morphogenesis nucleus DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(15)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 40 AGGACCTGCCCCTCAGCACCT 0.632000 42 93 0 0 1 0 0 TCEB3C 162699 broad.mit.edu 37 18 44555144 44555144 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr18:44555144C>T ENST00000330682.2 - 1 1305 c.1070G>A c.(1069-1071)gGg>gAg p.G357E KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000592005.1_Intron NM_145653.3 NP_663628.2 Q8NG57 ELOA3_HUMAN transcription elongation factor B polypeptide 3C (elongin A3) 357 Activation domain (By similarity). regulation of transcription, DNA-dependent|transcription, DNA-dependent integral to membrane|nucleus DNA binding NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(16)|skin(2) 30 GTAGGGGACCCCTTCCACGTC 0.647000 28 2119 0 0 1 0 0 PCDHA2 56146 broad.mit.edu 37 5 140176983 140176983 + Missense_Mutation SNP A A G TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:140176983A>G ENST00000378132.1 + 1 2540 c.2434A>G c.(2434-2436)Aaa>Gaa p.K812E PCDHA2_ENST00000520672.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron NM_031495.1 NP_113683.1 NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1) 71 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGTTCTTTTTAAAAAATTCTA 0.308000 18 38 0 0 1 0 0 IGHV3-33 28434 broad.mit.edu 37 14 106815856 106815856 + RNA SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr14:106815856C>T ENST00000390615.2 - 0 296 TTACTTCCATCATACCATATA 0.517000 106 46 0 0 1 0 0 CEACAM3 1084 broad.mit.edu 37 19 42312929 42312929 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:42312929C>T ENST00000357396.3 + 3 744 c.503C>T c.(502-504)gCc>gTc p.A168V CEACAM3_ENST00000595255.1_3'UTR|CEACAM3_ENST00000344550.4_Missense_Mutation_p.A168V|CEACAM3_ENST00000221999.4_Missense_Mutation_p.A168V NM_001815.2 NP_001806.2 P40198 CEAM3_HUMAN carcinoembryonic antigen-related cell adhesion molecule 3 168 integral to membrane endometrium(2)|kidney(4)|large_intestine(1)|lung(4)|prostate(3)|skin(4)|stomach(1) 19 GCGCTGGTGGCCGCGCTGGTG 0.597000 9 322 0 0 1 0 0 EPN1 29924 broad.mit.edu 37 19 56203374 56203374 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:56203374C>T ENST00000411543.2 + 7 1822 c.1275C>T c.(1273-1275)gcC>gcT p.A425A EPN1_ENST00000270460.6_Silent_p.A339A|EPN1_ENST00000085079.7_Silent_p.A314A NM_001130071.1 NP_001123543.1 Q9Y6I3 EPN1_HUMAN epsin 1 339 Ala/Gly/Pro-rich. endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway coated pit|cytoplasm|nucleus|plasma membrane lipid binding endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|skin(1) 17 Colorectal(82;0.00244)|Ovarian(87;0.133) GBM - Glioblastoma multiforme(193;0.112) GGACCCCAGCCCCTGCAGCTG 0.697000 5 13 0 0 1 0 0 PRRG3 79057 broad.mit.edu 37 X 150869094 150869094 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chrX:150869094C>T ENST00000370353.3 + 4 675 c.285C>T c.(283-285)atC>atT p.I95I PRRG3_ENST00000370354.1_3'UTR|PRRG3_ENST00000538575.1_Silent_p.I95I Q9BZD7 TMG3_HUMAN proline rich Gla (G-carboxyglutamic acid) 3 (transmembrane) 95 extracellular region|integral to membrane calcium ion binding NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(3)|prostate(2)|skin(3) 24 Acute lymphoblastic leukemia(192;6.56e-05) TGATTGTCATCGCCTTGTTCA 0.597000 14 216 0 0 1 0 0 SPAG16 79582 broad.mit.edu 37 2 214794833 214794833 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:214794833C>T ENST00000331683.5 + 12 1459 c.1364C>T c.(1363-1365)tCa>tTa p.S455L SPAG16_ENST00000374309.3_Missense_Mutation_p.S361L NM_024532.4 NP_078808.3 Q8N0X2 SPG16_HUMAN sperm associated antigen 16 455 cilium assembly cilium axoneme|flagellar axoneme endometrium(4)|kidney(1)|large_intestine(15)|lung(27)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 56 Renal(323;0.00461) UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599) GCTTCCTCCTCACTGGATAAA 0.428000 46 60 0 0 1 0 0 GIMAP2 26157 broad.mit.edu 37 7 150389937 150389937 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:150389937G>A ENST00000223293.5 + 3 657 c.563G>A c.(562-564)gGg>gAg p.G188E NM_015660.2 NP_056475.1 Q9UG22 GIMA2_HUMAN GTPase, IMAP family member 2 188 integral to membrane GTP binding kidney(1)|large_intestine(1)|lung(8)|skin(2)|urinary_tract(1) 13 OV - Ovarian serous cystadenocarcinoma(82;0.0145) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) CGTGCTGAAGGGAGCAATCAG 0.463000 66 126 0 0 1 0 0 CBL 867 broad.mit.edu 37 11 119103218 119103218 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:119103218G>A ENST00000264033.4 + 2 632 c.256G>A c.(256-258)Gac>Aac p.D86N NM_005188.3 NP_005179.2 P22681 CBL_HUMAN Cbl proto-oncogene, E3 ubiquitin protein ligase 86 4H.|Cbl-PTB. epidermal growth factor receptor signaling pathway|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of receptor-mediated endocytosis cytosol|nucleus calcium ion binding|sequence-specific DNA binding transcription factor activity|SH3 domain binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(194)|kidney(3)|large_intestine(9)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 251 Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;4.92e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.000784) TTATATCTTAGACCTGCTACC 0.428000 """T, Mis S, O""" MLL """AML, JMML, MDS""" Noonan syndrome;CBL gene-associated Juvenile Myelomonocytic Leukemia and Developmental Anomalies 33 50 0 0 1 0 0 DYDC1 143241 broad.mit.edu 37 10 82098891 82098891 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:82098891C>T ENST00000421924.2 - 5 772 c.361G>A c.(361-363)Gaa>Aaa p.E121K DYDC1_ENST00000372202.1_Missense_Mutation_p.E121K|DYDC1_ENST00000372204.3_Missense_Mutation_p.E121K Q8WWB3 DYDC1_HUMAN DPY30 domain containing 1 121 kidney(1)|large_intestine(3)|skin(1) 5 Colorectal(32;0.229) ACTAGATTTTCCATATTCATT 0.254000 5 13 0 0 1 0 0 VAV1 7409 broad.mit.edu 37 19 6854018 6854018 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:6854018G>A ENST00000304076.2 + 25 2421 c.2327G>A c.(2326-2328)cGa>cAa p.R776Q VAV1_ENST00000596764.1_Missense_Mutation_p.R766Q|VAV1_ENST00000599806.1_Missense_Mutation_p.R743Q|VAV1_ENST00000539284.1_Missense_Mutation_p.R701Q|VAV1_ENST00000602142.1_Missense_Mutation_p.R798Q NM_001258206.1 NP_001245135.1 P15498 VAV_HUMAN vav 1 guanine nucleotide exchange factor 798 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|T cell costimulation cytosol|plasma membrane metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity p.R798Q(1) biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2) 62 GCCCGAGACCGATCAGAGCTG 0.552000 52 133 0 0 1 0 0 TSSK1B 83942 broad.mit.edu 37 5 112770175 112770175 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:112770175G>A ENST00000390666.3 - 1 553 c.362C>T c.(361-363)tCc>tTc p.S121F CTD-2201G3.1_ENST00000383058.4_RNA|CTD-2201G3.1_ENST00000416046.2_RNA|MCC_ENST00000408903.3_Intron NM_032028.3 NP_114417.1 Q9BXA7 TSSK1_HUMAN testis-specific serine kinase 1B 121 Protein kinase. cell differentiation|multicellular organismal development|spermatogenesis ATP binding|magnesium ion binding|protein serine/threonine kinase activity large_intestine(8)|ovary(2)|skin(2)|stomach(1) 13 all_cancers(142;0.0138)|all_epithelial(76;0.000445)|Colorectal(10;0.00814)|Prostate(80;0.0115)|Ovarian(225;0.156) Epithelial(69;4.15e-08)|OV - Ovarian serous cystadenocarcinoma(64;4.49e-08)|all cancers(49;3.2e-06)|COAD - Colon adenocarcinoma(37;0.0371)|Colorectal(14;0.0449) GATGGCCAAGGAAAGCTGGTG 0.567000 27 55 0 0 1 0 0 SACS 26278 broad.mit.edu 37 13 23929800 23929800 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr13:23929800G>A ENST00000382298.3 - 8 1539 c.951C>T c.(949-951)tcC>tcT p.S317S SACS_ENST00000402364.1_5'UTR|SACS_ENST00000382292.3_Silent_p.S317S NM_014363.4 NP_055178.3 Q9NZJ4 SACS_HUMAN spastic ataxia of Charlevoix-Saguenay (sacsin) 317 cell death|negative regulation of inclusion body assembly|protein folding axon|cell body fiber|dendrite|mitochondrion|nucleus ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11) 189 all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128) all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189) GGACATATAAGGAAACATCCT 0.443000 22 56 0 0 1 0 0 SCAND3 114821 broad.mit.edu 37 6 28543687 28543687 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:28543687C>T ENST00000452236.2 - 3 1412 c.795G>A c.(793-795)aaG>aaA p.K265K NM_052923.1 NP_443155.1 Q6R2W3 SCND3_HUMAN SCAN domain containing 3 265 DNA integration|viral reproduction nucleus DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3) 71 CAACTGATTCCTTTTTCGCCT 0.353000 68 245 0 0 1 0 0 NLRX1 79671 broad.mit.edu 37 11 119045559 119045559 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:119045559C>T ENST00000409109.1 + 6 1834 c.1247C>T c.(1246-1248)cCc>cTc p.P416L NLRX1_ENST00000292199.2_Missense_Mutation_p.P416L|NLRX1_ENST00000409265.4_Missense_Mutation_p.P416L|NLRX1_ENST00000409991.1_Missense_Mutation_p.P416L|NLRX1_ENST00000525863.1_Missense_Mutation_p.P416L Q86UT6 NLRX1_HUMAN NLR family member X1 416 NACHT.|Required for interaction with MAVS. innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production mitochondrial outer membrane ATP binding cervix(1)|endometrium(2)|kidney(2)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2) 22 all_hematologic(175;0.0977) Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.7e-05) AGCACTGACCCCTCCAATTTG 0.582000 34 41 0 0 1 0 0 GPR112 139378 broad.mit.edu 37 X 135426623 135426623 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chrX:135426623C>T ENST00000394143.1 + 6 1049 c.758C>T c.(757-759)tCc>tTc p.S253F GPR112_ENST00000412101.1_Missense_Mutation_p.S48F|GPR112_ENST00000287534.4_Missense_Mutation_p.S190F|GPR112_ENST00000394141.1_Missense_Mutation_p.S48F|GPR112_ENST00000370652.1_Missense_Mutation_p.S253F NM_153834.3 NP_722576.3 Q8IZF6 GP112_HUMAN G protein-coupled receptor 112 253 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2) 199 Acute lymphoblastic leukemia(192;0.000127) ACCACTCCATCCCAAATTACT 0.318000 28 15 0 0 1 0 0 CDCA7L 55536 broad.mit.edu 37 7 21951281 21951281 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:21951281C>T ENST00000406877.3 - 3 536 c.257G>A c.(256-258)gGa>gAa p.G86E CDCA7L_ENST00000373934.4_Intron|CDCA7L_ENST00000356195.5_Missense_Mutation_p.G52E|CDCA7L_ENST00000465490.1_Intron NM_018719.4 NP_061189.2 Q96GN5 CDA7L_HUMAN cell division cycle associated 7-like 86 PSIP1-binding. positive regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(1)|urinary_tract(1) 29 CTGCGTAAATCCTGCAAAATC 0.383000 39 107 0 0 1 0 0 LRIG1 26018 broad.mit.edu 37 3 66431903 66431903 + Splice_Site SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:66431903C>T ENST00000383703.3 - 18 3304 c.2701_splice c.e18+1 p.E901_splice SLC25A26_ENST00000536651.1_Intron|LRIG1_ENST00000496559.2_5'UTR|LRIG1_ENST00000273261.3_Splice_Site_p.E924_splice Q96JA1 LRIG1_HUMAN leucine-rich repeats and immunoglobulin-like domains 1 924 integral to membrane NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1) 42 Lung NSC(201;0.0101) BRCA - Breast invasive adenocarcinoma(55;0.00047) CATCTCATACCCATCTTATGT 0.502000 23 100 0 0 1 0 0 MID1 4281 broad.mit.edu 37 X 10463698 10463698 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chrX:10463698C>T ENST00000317552.4 - 4 1190 c.790G>A c.(790-792)Gag>Aag p.E264K MID1_ENST00000380787.1_Missense_Mutation_p.E264K|MID1_ENST00000380782.2_Missense_Mutation_p.E264K|MID1_ENST00000380785.1_Missense_Mutation_p.E264K|MID1_ENST00000453318.2_Missense_Mutation_p.E264K|MID1_ENST00000380779.1_Missense_Mutation_p.E264K|MID1_ENST00000380780.1_Missense_Mutation_p.E264K NM_000381.3|NM_033289.1 NP_000372.1|NP_150631.1 O15344 TRI18_HUMAN midline 1 (Opitz/BBB syndrome) 264 microtubule cytoskeleton organization|pattern specification process|positive regulation of stress-activated MAPK cascade cytoplasm|microtubule|microtubule associated complex|spindle ligase activity|ubiquitin protein ligase binding|zinc ion binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1) 26 TCACACTCCTCTGTCAATTTG 0.373000 84 29 0 0 1 0 0 EIF3L 51386 broad.mit.edu 37 22 38282795 38282795 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr22:38282795C>T ENST00000412331.2 + 12 2181 c.1599C>T c.(1597-1599)acC>acT p.T533T EIF3L_ENST00000381683.6_Silent_p.T485T|EIF3L_ENST00000406934.1_Silent_p.T435T NM_016091.3 NP_057175.1 Q9Y262 EIF3L_HUMAN eukaryotic translation initiation factor 3, subunit L 533 eukaryotic translation initiation factor 3 complex protein binding|translation initiation factor activity kidney(2)|large_intestine(3)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 TCGCGGACACCAAGGTCGCCA 0.557000 7 83 0 0 1 0 0 PLIN1 5346 broad.mit.edu 37 15 90212813 90212813 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr15:90212813G>A ENST00000300055.5 - 6 854 c.689C>T c.(688-690)tCt>tTt p.S230F PLIN1_ENST00000430628.2_Missense_Mutation_p.S230F NM_002666.4 NP_002657.3 O60240 PLIN1_HUMAN perilipin 1 230 triglyceride catabolic process lipid particle lipid binding NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|skin(2) 13 GGTGTATCGAGAGAGGGTGTT 0.647000 29 52 0 0 1 0 0 NKAPL 222698 broad.mit.edu 37 6 28228020 28228020 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:28228020G>A ENST00000343684.3 + 1 923 c.871G>A c.(871-873)Gaa>Aaa p.E291K NM_001007531.1 NP_001007532.1 Q5M9Q1 NKAPL_HUMAN NFKB activating protein-like 291 breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 31 CTCTCAAGATGAAAAACCTTT 0.453000 33 95 0 0 1 0 0 PXT1 222659 broad.mit.edu 37 6 36359618 36359618 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:36359618G>A ENST00000454782.2 - 5 817 c.334C>T c.(334-336)Cat>Tat p.H112Y RP1-50J22.4_ENST00000411643.1_RNA NM_152990.3 NP_694535.2 Q8NFP0 PXT1_HUMAN peroxisomal, testis specific 1 29 peroxisome AAGACAAAATGATCTAGTGCA 0.338000 41 159 0 0 1 0 0 ALPK3 57538 broad.mit.edu 37 15 85406008 85406008 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr15:85406008C>T ENST00000258888.5 + 10 5045 c.4878C>T c.(4876-4878)tcC>tcT p.S1626S NM_020778.4 NP_065829.3 Q96L96 ALPK3_HUMAN alpha-kinase 3 1626 Alpha-type protein kinase. heart development nucleus ATP binding|protein serine/threonine kinase activity NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 81 BRCA - Breast invasive adenocarcinoma(143;0.0587) GGAAGGCCTCCCAGGCCAAGG 0.622000 18 46 0 0 1 0 0 SLC14A2 8170 broad.mit.edu 37 18 43212331 43212331 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr18:43212331G>A ENST00000255226.6 + 5 1354 c.538G>A c.(538-540)Gga>Aga p.G180R SLC14A2_ENST00000586448.1_Missense_Mutation_p.G180R NM_007163.3 NP_009094.3 Q15849 UT2_HUMAN solute carrier family 14 (urea transporter), member 2 180 apical plasma membrane|integral to membrane|membrane fraction protein binding|urea transmembrane transporter activity p.G180*(1) NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 CATTGCCTCAGGACTCCATGG 0.532000 7 133 0 0 1 0 0 CADPS2 93664 broad.mit.edu 37 7 122303581 122303581 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:122303581C>T ENST00000334010.7 - 3 917 c.496G>A c.(496-498)Gga>Aga p.G166R CADPS2_ENST00000449022.2_Missense_Mutation_p.G166R|CADPS2_ENST00000412584.2_Missense_Mutation_p.G166R|CADPS2_ENST00000313070.7_Missense_Mutation_p.G166R NM_001167940.1 NP_001161412.1 Q86UW7 CAPS2_HUMAN Ca++-dependent secretion activator 2 166 exocytosis|protein transport cell junction|cytoplasmic vesicle membrane|synapse lipid binding|metal ion binding breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2) 43 GAACACCCTCCACTCTGTACC 0.373000 5 26 0 0 1 0 0 SLCO1B7 338821 broad.mit.edu 37 12 21172182 21172182 + Splice_Site SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:21172182G>A ENST00000421593.2 + 2 86 c.85_splice c.e2-1 p.G29_splice LST3_ENST00000381541.3_Intron|LST3_ENST00000540229.1_Intron|SLCO1B7_ENST00000554957.1_Intron|SLCO1B3_ENST00000553473.1_Intron NM_001009562.4 NP_001009562.3 solute carrier organic anion transporter family, member 1B7 (non-functional) endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(25)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 46 CTCTTTCTAGGAAATTTGTTT 0.333000 17 25 0 0 1 0 0 TENM1 10178 broad.mit.edu 37 X 123526069 123526069 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chrX:123526069G>A ENST00000422452.2 - 28 5584 c.5521C>T c.(5521-5523)Cct>Tct p.P1841S STAG2_ENST00000469481.1_Intron|TENM1_ENST00000371130.3_Missense_Mutation_p.P1834S NM_001163278.1|NM_001163279.1 NP_001156750.1|NP_001156751.1 teneurin transmembrane protein 1 CTGCTTACAGGAGACCACAGA 0.403000 4 84 0 0 1 0 0 B3GALT2 8707 broad.mit.edu 37 1 193149659 193149659 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:193149659C>T ENST00000367434.4 - 2 1789 c.1034G>A c.(1033-1035)gGg>gAg p.G345E CDC73_ENST00000367435.3_Intron NM_003783.3 NP_003774.1 O43825 B3GT2_HUMAN UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 2 345 protein glycosylation Golgi membrane|integral to membrane UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|ovary(2) 16 AAGACAGATCCCTACATATAC 0.418000 36 88 0 0 1 0 0 COL17A1 1308 broad.mit.edu 37 10 105792441 105792441 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:105792441C>T ENST00000353479.5 - 55 4719 c.4429G>A c.(4429-4431)Gga>Aga p.G1477R COL17A1_ENST00000369733.3_Missense_Mutation_p.G1395R NM_000494.3 NP_000485.3 Q9UMD9 COHA1_HUMAN collagen, type XVII, alpha 1 1477 Triple-helical region. cell-matrix adhesion|epidermis development|hemidesmosome assembly basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane protein binding NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1) 62 Colorectal(252;0.103)|Breast(234;0.122) Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165) CCTTTGTCTCCTTTTTCTCCC 0.547000 11 135 0 0 1 0 0 KCNT2 343450 broad.mit.edu 37 1 196303014 196303014 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:196303014C>T ENST00000367433.5 - 17 2061 c.1960G>A c.(1960-1962)Gaa>Aaa p.E654K KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000294725.8_Missense_Mutation_p.E654K|KCNT2_ENST00000451324.2_Missense_Mutation_p.E265K|KCNT2_ENST00000367431.4_Missense_Mutation_p.E604K Q6UVM3 KCNT2_HUMAN potassium channel, subfamily T, member 2 654 voltage-gated potassium channel complex ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1) 97 GGTGTAGTTTCATCTTCTGAT 0.353000 33 50 0 0 1 0 0 IGKV1-6 28943 broad.mit.edu 37 2 89265910 89265910 + RNA SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:89265910G>A ENST00000464162.1 - 0 250 TTTGTAAACTGGATGCAGCAT 0.502000 99 220 0 0 1 0 0 CDH8 1006 broad.mit.edu 37 16 61689619 61689619 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr16:61689619G>A ENST00000577390.1 - 11 2615 c.1661C>T c.(1660-1662)tCc>tTc p.S554F CDH8_ENST00000299345.6_Missense_Mutation_p.S554F|CDH8_ENST00000577730.1_Missense_Mutation_p.S554F NM_001796.4 NP_001787.2 P55286 CADH8_HUMAN cadherin 8, type 2 554 Cadherin 5. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4) 112 Ovarian(137;0.0799)|Melanoma(118;0.16) UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249) AATACTGAGGGAATTATCTGA 0.343000 12 24 0 0 1 0 0 TENM4 26011 broad.mit.edu 37 11 78467965 78467965 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:78467965C>T ENST00000278550.7 - 19 3103 c.2641G>A c.(2641-2643)Gag>Aag p.E881K NM_001098816.2 NP_001092286.2 teneurin transmembrane protein 4 ACCTGTGTCTCCTGGATGATG 0.592000 4 58 0 0 1 0 0 LOC100130331 100130331 broad.mit.edu 37 1 238090198 238090198 + RNA SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:238090198G>A ENST00000450451.1 + 0 1704 NR_027247.2 GGCTTTGCTGGGGACGATGCC 0.602000 12 26 0 0 1 0 0 MRPS9 64965 broad.mit.edu 37 2 105713701 105713701 + Missense_Mutation SNP C C G TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:105713701C>G ENST00000258455.3 + 10 1128 c.1018C>G c.(1018-1020)Cag>Gag p.Q340E AC104655.2_ENST00000449177.1_RNA|AC104655.2_ENST00000432211.1_RNA NM_182640.2 NP_872578.1 P82933 RT09_HUMAN mitochondrial ribosomal protein S9 340 DNA damage response, detection of DNA damage|translation mitochondrial small ribosomal subunit protein binding|structural constituent of ribosome breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 18 GAGGTCAGCGCAGGCTGGAGC 0.562000 34 61 0 0 1 0 0 UHRF2 115426 broad.mit.edu 37 9 6475498 6475498 + Missense_Mutation SNP T T C TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:6475498T>C ENST00000276893.5 + 5 1139 c.971T>C c.(970-972)tTa>tCa p.L324S NM_152896.2 NP_690856.1 Q96PU4 UHRF2_HUMAN ubiquitin-like with PHD and ring finger domains 2, E3 ubiquitin protein ligase 324 cell cycle|cell differentiation|cell proliferation|protein autoubiquitination|regulation of cell cycle|ubiquitin-dependent protein catabolic process nucleus DNA binding|histone binding|ubiquitin-protein ligase activity|zinc ion binding cervix(2)|endometrium(2)|kidney(3)|large_intestine(4)|lung(5)|ovary(1) 17 Acute lymphoblastic leukemia(23;0.158) GBM - Glioblastoma multiforme(50;0.0392)|Lung(218;0.129) GGAAAGTTTTTAAGTATGGAT 0.338000 9 100 0 0 1 0 0 ACOX2 8309 broad.mit.edu 37 3 58517015 58517015 + Missense_Mutation SNP C C G TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:58517015C>G ENST00000302819.5 - 7 1073 c.782G>C c.(781-783)cGg>cCg p.R261P ACOX2_ENST00000459701.2_Intron NM_003500.3 NP_003491.1 Q99424 ACOX2_HUMAN acyl-CoA oxidase 2, branched chain 261 bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase peroxisomal matrix 3alpha,7alpha,12alpha-trihydroxy-5beta-cholestanoyl-CoA 24-hydroxylase activity|acyl-CoA dehydrogenase activity|pristanoyl-CoA oxidase activity breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(3)|urinary_tract(1) 25 BRCA - Breast invasive adenocarcinoma(55;0.000194)|Kidney(10;0.00255)|KIRC - Kidney renal clear cell carcinoma(10;0.00268)|OV - Ovarian serous cystadenocarcinoma(275;0.156) CCTGGGGACCCGCACATGGTT 0.547000 44 70 0 0 1 0 0 PMEPA1 56937 broad.mit.edu 37 20 56227482 56227482 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr20:56227482G>A ENST00000341744.3 - 4 810 c.491C>T c.(490-492)cCc>cTc p.P164L PMEPA1_ENST00000395814.1_Missense_Mutation_p.P114L|PMEPA1_ENST00000347215.4_Missense_Mutation_p.P129L|PMEPA1_ENST00000395816.3_Missense_Mutation_p.P114L|PMEPA1_ENST00000265626.4_Missense_Mutation_p.P114L NM_020182.4 NP_064567.2 Q969W9 PMEPA_HUMAN prostate transmembrane protein, androgen induced 1 164 androgen receptor signaling pathway integral to membrane|plasma membrane WW domain binding breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1) 16 GAGGGTGCAGGGGCCCTGGTA 0.652000 19 38 0 0 1 0 0 UNC93A 54346 broad.mit.edu 37 6 167728920 167728920 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:167728920G>A ENST00000230256.3 + 8 1529 c.1354G>A c.(1354-1356)Gaa>Aaa p.E452K UNC93A_ENST00000366829.2_Missense_Mutation_p.E410K NM_018974.3 NP_061847.2 Q86WB7 UN93A_HUMAN unc-93 homolog A (C. elegans) 452 integral to membrane|plasma membrane breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 40 Breast(66;7.62e-05)|Ovarian(120;0.105) OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492) AGAGGATGAAGAAATACAAAC 0.522000 74 190 0 0 1 0 0 KCNAB3 9196 broad.mit.edu 37 17 7830697 7830697 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:7830697G>A ENST00000303790.2 - 4 368 c.369C>T c.(367-369)aaC>aaT p.N123N RP11-1099M24.7_ENST00000573621.1_3'UTR NM_004732.3 NP_004723.2 O43448 KCAB3_HUMAN potassium voltage-gated channel, shaker-related subfamily, beta member 3 123 cytoplasm|integral to membrane oxidoreductase activity|potassium channel regulator activity|voltage-gated potassium channel activity breast(2)|endometrium(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1) 8 Prostate(122;0.157) TGTCAAACAGGTTTACACCAT 0.502000 13 299 0 0 1 0 0 OPLAH 26873 broad.mit.edu 37 8 145114522 145114522 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:145114522G>A ENST00000426825.1 - 3 424 c.343C>T c.(343-345)Cgt>Tgt p.R115C OPLAH_ENST00000534424.1_5'UTR NM_017570.3 NP_060040.1 O14841 OPLA_HUMAN 5-oxoprolinase (ATP-hydrolysing) 115 5-oxoprolinase (ATP-hydrolyzing) activity|ATP binding breast(1)|central_nervous_system(1)|endometrium(1)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 20 all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) L-Glutamic Acid(DB00142) AGGTCCCCACGGGCTTGGGTG 0.647000 25 45 0 0 1 0 0 TTC7A 57217 broad.mit.edu 37 2 47202165 47202165 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:47202165G>A ENST00000319190.5 + 4 939 c.571G>A c.(571-573)Gag>Aag p.E191K TTC7A_ENST00000409245.1_Missense_Mutation_p.E157K|TTC7A_ENST00000394850.2_Missense_Mutation_p.E191K|TTC7A_ENST00000263737.6_5'UTR|TTC7A_ENST00000461601.1_3'UTR NM_020458.2 NP_065191.2 Q9ULT0 TTC7A_HUMAN tetratricopeptide repeat domain 7A 191 binding breast(4)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 25 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18) Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114) CCGCCTGACAGAGAGGGAGGA 0.607000 51 90 0 0 1 0 0 LILRB1 10859 broad.mit.edu 37 19 55144036 55144036 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:55144036G>A ENST00000396331.1 + 7 1140 c.783G>A c.(781-783)ggG>ggA p.G261G LILRB1_ENST00000448689.1_Silent_p.G261G|LILRB1_ENST00000396332.4_Silent_p.G261G|LILRB1_ENST00000324602.7_Silent_p.G261G|LILRB1_ENST00000396315.1_Silent_p.G261G|LILRB1_ENST00000396317.1_Silent_p.G261G|LILRB1_ENST00000418536.2_Silent_p.G261G|LILRB1_ENST00000396321.2_Silent_p.G261G|LILRB1_ENST00000396327.3_Silent_p.G261G|LILRB1_ENST00000427581.2_Silent_p.G297G|LILRB1_ENST00000434867.2_Silent_p.G261G NM_006669.3 NP_006660.3 Q8NHL6 LIRB1_HUMAN leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1 261 Ig-like C2-type 3. regulation of immune response|response to virus integral to membrane|plasma membrane protein phosphatase 1 binding|receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 74 GBM - Glioblastoma multiforme(193;0.0188) ATAAGGACGGGGAACGTGACT 0.617000 HNSCC(37;0.09) 58 118 0 0 1 0 0 OR4F15 390649 broad.mit.edu 37 15 102358672 102358672 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr15:102358672C>T ENST00000332238.4 + 1 307 c.283C>T c.(283-285)Cgg>Tgg p.R95W NM_001001674.1 NP_001001674.1 Q8NGB8 O4F15_HUMAN olfactory receptor, family 4, subfamily F, member 15 95 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(10) 19 Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505) OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187) CATCTCCTTTCGGGGATGTAT 0.448000 12 184 0 0 1 0 0 SPTA1 6708 broad.mit.edu 37 1 158596760 158596760 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:158596760G>A ENST00000368148.3 - 41 5882 c.5702C>T c.(5701-5703)tCc>tTc p.S1901F SPTA1_ENST00000368147.3_Missense_Mutation_p.S1898F|SPTA1_ENST00000461624.1_5'UTR NM_003126.2 NP_003117.2 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 (elliptocytosis 2) 1901 actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6) 307 all_hematologic(112;0.0378) CTCTATCTTGGAAGAAATCTC 0.423000 14 285 0 0 1 0 0 CRYGS 1427 broad.mit.edu 37 3 186257302 186257302 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:186257302G>A ENST00000392499.2 - 3 445 c.106C>T c.(106-108)Cgc>Tgc p.R36C CRYGS_ENST00000307944.5_Missense_Mutation_p.R36C NM_017541.2 NP_060011.1 P22914 CRBS_HUMAN crystallin, gamma S 36 Beta/gamma crystallin 'Greek key' 1. structural constituent of eye lens endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2) 11 all_cancers(143;3.75e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;5.5e-22) GBM - Glioblastoma multiforme(93;0.0906) GAGTTGCAGCGACTTAGGTAT 0.463000 36 90 0 0 1 0 0 GLTSCR1 29998 broad.mit.edu 37 19 48204603 48204603 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:48204603C>T ENST00000396720.3 + 15 3808 c.3614C>T c.(3613-3615)tCc>tTc p.S1205F CTD-2571L23.8_ENST00000599924.1_lincRNA NM_015711.3 NP_056526.3 Q9NZM4 GSCR1_HUMAN glioma tumor suppressor candidate region gene 1 1205 protein binding breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|pancreas(3)|prostate(4)|skin(2) 20 all_cancers(25;1.8e-07)|all_lung(116;5.73e-06)|Lung NSC(112;9.69e-06)|all_epithelial(76;2.42e-05)|all_neural(266;0.0332)|Ovarian(192;0.086) all cancers(93;0.000358)|OV - Ovarian serous cystadenocarcinoma(262;0.000576)|Epithelial(262;0.0212)|GBM - Glioblastoma multiforme(486;0.0355) GTGTCTTCCTCCCGCTCGCTC 0.677000 12 26 0 0 1 0 0 TJP1 7082 broad.mit.edu 37 15 30011099 30011099 + Missense_Mutation SNP G G A rs35392254 TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr15:30011099G>A ENST00000346128.6 - 21 3721 c.3247C>T c.(3247-3249)Cgc>Tgc p.R1083C TJP1_ENST00000400011.2_Missense_Mutation_p.R1007C|TJP1_ENST00000356107.6_Missense_Mutation_p.R1083C|TJP1_ENST00000545208.2_Missense_Mutation_p.R1003C NM_003257.3|NM_175610.2 NP_003248.3|NP_783297.2 Q07157 ZO1_HUMAN tight junction protein 1 1083 cell-cell junction assembly|cellular component disassembly involved in apoptosis basolateral plasma membrane|cell-cell adherens junction|Golgi apparatus|tight junction breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1) 68 all_lung(180;7.48e-11)|Breast(32;0.000153) all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186) ATGGGGACGCGATCTTCGTAT 0.483000 90 160 0 0 1 0 0 P2RY2 5029 broad.mit.edu 37 11 72945864 72945864 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:72945864C>T ENST00000311131.2 + 3 1127 c.660C>T c.(658-660)ctC>ctT p.L220L P2RY2_ENST00000393597.2_Silent_p.L220L|P2RY2_ENST00000393596.2_Silent_p.L220L NM_002564.2|NM_176072.1 NP_002555.2|NP_788086.1 P41231 P2RY2_HUMAN purinergic receptor P2Y, G-protein coupled, 2 220 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger integral to plasma membrane purinergic nucleotide receptor activity, G-protein coupled endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2) 25 Suramin(DB04786) GTTACGTGCTCATGGCTCGGC 0.652000 32 87 0 0 1 0 0 C12orf50 160419 broad.mit.edu 37 12 88379651 88379651 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:88379651C>T ENST00000298699.2 - 11 1282 c.1102G>A c.(1102-1104)Gaa>Aaa p.E368K C12orf50_ENST00000550553.1_Missense_Mutation_p.E329K NM_152589.1 NP_689802.1 Q8NA57 CL050_HUMAN chromosome 12 open reading frame 50 368 NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|urinary_tract(2) 34 GGTTTGGGTTCCCTGTTAGCA 0.498000 54 101 0 0 1 0 0 RFX4 5992 broad.mit.edu 37 12 106995060 106995060 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:106995060C>T ENST00000357881.4 + 1 146 c.6C>T c.(4-6)atC>atT p.I2I RP11-144F15.1_ENST00000551505.1_Intron|RFX4_ENST00000392842.1_Intron NM_001206691.1 NP_001193620.1 Q33E94 RFX4_HUMAN regulatory factor X, 4 (influences HLA class II expression) 0 transcription, DNA-dependent nucleus DNA binding NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(20)|pancreas(1)|upper_aerodigestive_tract(1) 35 ACAGAATGATCAAAAGGAGAG 0.632000 10 9 0 0 1 0 0 FGD5 152273 broad.mit.edu 37 3 14862814 14862814 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:14862814G>A ENST00000285046.5 + 1 2346 c.2236G>A c.(2236-2238)Gaa>Aaa p.E746K FGD5_ENST00000543601.1_Missense_Mutation_p.E505K NM_152536.3 NP_689749.3 Q6ZNL6 FGD5_HUMAN FYVE, RhoGEF and PH domain containing 5 746 actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape cytoskeleton|Golgi apparatus|lamellipodium|ruffle metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1) 54 GGAGTCCTTTGAAGACCGCTC 0.582000 105 200 0 0 1 0 0 THNSL1 79896 broad.mit.edu 37 10 25312811 25312811 + Missense_Mutation SNP T T A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:25312811T>A ENST00000524413.1 + 3 1006 c.659T>A c.(658-660)aTt>aAt p.I220N THNSL1_ENST00000376356.4_Missense_Mutation_p.I220N Q8IYQ7 THNS1_HUMAN threonine synthase-like 1 (S. cerevisiae) 220 threonine biosynthetic process ATP binding|pyridoxal phosphate binding|shikimate kinase activity|threonine synthase activity NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(5)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3) 28 L-Threonine(DB00156)|Pyridoxal Phosphate(DB00114) CTGAATGCAATTAAAAGATAC 0.398000 44 78 0 0 1 0 0 GPX3 2878 broad.mit.edu 37 5 150407685 150407685 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:150407685G>A ENST00000388825.4 + 5 767 c.675G>A c.(673-675)agG>agA p.R225R GPX3_ENST00000517973.1_3'UTR NM_002084.3 NP_002075.2 P22352 GPX3_HUMAN glutathione peroxidase 3 (plasma) 225 hydrogen peroxide catabolic process|protein homotetramerization|response to lipid hydroperoxide extracellular space glutathione peroxidase activity|selenium binding|transcription factor binding kidney(1)|large_intestine(3)|lung(1)|skin(1) 6 Medulloblastoma(196;0.091)|all_hematologic(541;0.207) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) Glutathione(DB00143) GGGTCAAGAGGAAGTAACTGA 0.557000 8 5 0 0 1 0 0 GCM1 8521 broad.mit.edu 37 6 52998885 52998885 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:52998885G>A ENST00000259803.7 - 3 524 c.313C>T c.(313-315)Cgg>Tgg p.R105W NM_003643.3 NP_003634.2 Q9NP62 GCM1_HUMAN glial cells missing homolog 1 (Drosophila) 105 transcription factor complex DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|skin(1) 24 Lung NSC(77;0.0755) TGCTTCTGCCGGGCCTTGTCA 0.617000 38 81 0 0 1 0 0 TG 7038 broad.mit.edu 37 8 133898850 133898850 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:133898850G>A ENST00000220616.4 + 9 1273 c.1233G>A c.(1231-1233)acG>acA p.T411T TG_ENST00000377869.1_Silent_p.T411T NM_003235.4 NP_003226.4 P01266 THYG_HUMAN thyroglobulin 411 hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation extracellular space hormone activity NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8) 168 Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735) BRCA - Breast invasive adenocarcinoma(115;0.000701) KIRC - Kidney renal clear cell carcinoma(542;0.0546) GCCCACCCACGATCAAGGAGC 0.537000 32 342 0 0 1 0 0 PCDHB1 29930 broad.mit.edu 37 5 140432608 140432608 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:140432608G>A ENST00000306549.3 + 1 1630 c.1553G>A c.(1552-1554)aGa>aAa p.R518K NM_013340.2 NP_037472.2 Q9Y5F3 PCDB1_HUMAN 518 Cadherin 5. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 53 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TACGCGCTGAGAACCATGGAT 0.433000 25 50 0 0 1 0 0 SLC30A10 55532 broad.mit.edu 37 1 220088985 220088985 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:220088985G>A ENST00000366926.3 - 4 1425 c.1264C>T c.(1264-1266)Ctg>Ttg p.L422L SLC30A10_ENST00000484079.1_5'UTR|SLC30A10_ENST00000536446.1_Silent_p.L177L NM_018713.2 NP_061183.2 Q6XR72 ZNT10_HUMAN solute carrier family 30, member 10 422 zinc ion transport integral to membrane|plasma membrane cation transmembrane transporter activity NS(1)|endometrium(1)|large_intestine(1)|lung(9)|skin(1) 13 GBM - Glioblastoma multiforme(131;0.051)|all cancers(67;0.209) ACGTGAGCCAGAGGCAGTGCC 0.567000 11 154 0 0 1 0 0 ASTN2 23245 broad.mit.edu 37 9 119976642 119976642 + Missense_Mutation SNP T T G TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:119976642T>G ENST00000313400.4 - 3 1110 c.1010A>C c.(1009-1011)aAg>aCg p.K337T ASTN2_ENST00000361477.3_5'UTR|ASTN2_ENST00000373996.3_Missense_Mutation_p.K337T|ASTN2_ENST00000361209.2_Missense_Mutation_p.K337T O75129 ASTN2_HUMAN astrotactin 2 337 integral to membrane breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1) 102 CTCACCTTTCTTCTCAAAGTC 0.562000 7 250 0 0 1 0 0 DUOX2 50506 broad.mit.edu 37 15 45390254 45390254 + Missense_Mutation SNP G G A rs148718959 TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr15:45390254G>A ENST00000389039.6 - 27 3903 c.3518C>T c.(3517-3519)tCc>tTc p.S1173F DUOX2_ENST00000603300.1_Missense_Mutation_p.S1173F Q9NRD8 DUOX2_HUMAN dual oxidase 2 1173 Ferric oxidoreductase.|Interaction with TXNDC11 (By similarity). cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus apical plasma membrane|integral to membrane calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1) 63 all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027) all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068) GGGAAGCTTGGACCTGGGGGG 0.582000 17 45 0 0 1 0 0 PRTG 283659 broad.mit.edu 37 15 55971511 55971511 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr15:55971511G>A ENST00000389286.4 - 7 1153 c.1106C>T c.(1105-1107)tCg>tTg p.S369L NM_173814.4 NP_776175.2 Q2VWP7 PRTG_HUMAN protogenin 369 Ig-like 4. multicellular organismal development integral to membrane breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 41 all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135) TCTACCATTCGAATGTATCTT 0.378000 16 38 0 0 1 0 0 KLHL22 84861 broad.mit.edu 37 22 20819167 20819167 + Nonsense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr22:20819167G>A ENST00000328879.4 - 4 1246 c.1090C>T c.(1090-1092)Cga>Tga p.R364* KLHL22_ENST00000440659.2_Nonsense_Mutation_p.R221* NM_032775.3 NP_116164.2 Q53GT1 KLH22_HUMAN kelch-like family member 22 364 cell division Cul3-RING ubiquitin ligase complex breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|skin(2)|upper_aerodigestive_tract(1) 20 Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173) GACTCTGCTCGAAATCCTTGG 0.567000 50 111 0 0 1 0 0 MYOF 26509 broad.mit.edu 37 10 95103648 95103648 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:95103648C>T ENST00000371501.4 - 38 4413 c.4291G>A c.(4291-4293)Gaa>Aaa p.E1431K MYOF_ENST00000359263.4_Missense_Mutation_p.E1431K|MYOF_ENST00000358334.5_Missense_Mutation_p.E1418K|MYOF_ENST00000371502.4_Missense_Mutation_p.E1431K Q9NZM1 MYOF_HUMAN myoferlin 1431 blood circulation|muscle contraction|plasma membrane repair caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane phospholipid binding|protein binding NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 67 TCTTCCATTTCGATAACGATG 0.428000 37 60 0 0 1 0 0 NIPAL4 348938 broad.mit.edu 37 5 156890105 156890105 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:156890105C>T ENST00000311946.7 + 2 343 c.227C>T c.(226-228)tCc>tTc p.S76F NIPAL4_ENST00000435489.2_Missense_Mutation_p.S76F|NIPAL4_ENST00000521390.1_3'UTR|ADAM19_ENST00000430702.2_Intron NM_001099287.1 NP_001092757.1 Q0D2K0 NIPA4_HUMAN NIPA-like domain containing 4 76 integral to membrane receptor activity breast(3)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|prostate(1)|skin(1) 22 CATCCAGGTTCCCTGCTCCAC 0.527000 38 81 0 0 1 0 0 ZNF35 7584 broad.mit.edu 37 3 44700902 44700902 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:44700902C>T ENST00000396056.2 + 4 1282 c.1047C>T c.(1045-1047)ctC>ctT p.L349L RP11-944L7.4_ENST00000457331.1_RNA|ZNF35_ENST00000542250.1_Silent_p.L189L|ZNF35_ENST00000296092.3_3'UTR NM_003420.3 NP_003411.3 P13682 ZNF35_HUMAN zinc finger protein 35 349 cellular response to retinoic acid|spermatogenesis nucleus|perinuclear region of cytoplasm sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding large_intestine(3)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(1) 12 Ovarian(412;0.0228) OV - Ovarian serous cystadenocarcinoma(275;2.49e-27)|KIRC - Kidney renal clear cell carcinoma(197;0.0475)|Kidney(197;0.0595) GCTCAAACCTCATTGTCCACC 0.453000 26 59 0 0 1 0 0 SCN10A 6336 broad.mit.edu 37 3 38743337 38743337 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:38743337G>A ENST00000449082.2 - 26 4649 c.4650C>T c.(4648-4650)tcC>tcT p.S1550S NM_006514.2 NP_006505.2 Q9Y5Y9 SCNAA_HUMAN sodium channel, voltage-gated, type X, alpha subunit 1550 sensory perception voltage-gated sodium channel complex NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 150 KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945) Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296) TACTCGCAATGGAGAGAACCA 0.488000 17 59 0 0 1 0 0 LOC642943 642943 broad.mit.edu 37 9 95646877 95646877 + RNA SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:95646877G>A ENST00000446878.1 + 0 411 ANKRD19P_ENST00000473204.1_RNA AGGCCTGGAGGAGACTTGGGA 0.592000 73 196 0 0 1 0 0 MYH7 4625 broad.mit.edu 37 14 23898455 23898455 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr14:23898455C>T ENST00000355349.3 - 13 1402 c.1240G>A c.(1240-1242)Ggg>Agg p.G414R NM_000257.2 NP_000248.2 P12883 MYH7_HUMAN myosin, heavy chain 7, cardiac muscle, beta 414 Myosin head-like. adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 137 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00725) ACATTCTGCCCCTTGGTGACG 0.567000 54 151 0 0 1 0 0 CSF1R 1436 broad.mit.edu 37 5 149459700 149459700 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:149459700G>A ENST00000286301.3 - 4 798 c.507C>T c.(505-507)ttC>ttT p.F169F CSF1R_ENST00000543093.1_Silent_p.F169F NM_005211.3 NP_005202.2 P07333 CSF1R_HUMAN colony stimulating factor 1 receptor 169 Ig-like C2-type 2. cell proliferation|multicellular organismal development|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane|receptor complex ATP binding|cytokine binding|macrophage colony-stimulating factor receptor activity|protein homodimerization activity NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(38)|kidney(2)|large_intestine(6)|liver(3)|lung(23)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3) 93 KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147) Imatinib(DB00619)|Sunitinib(DB01268) GGCTCTGAATGAACTTGGCCC 0.607000 27 60 0 0 1 0 0 OAS3 4940 broad.mit.edu 37 12 113400708 113400708 + Splice_Site SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:113400708G>A ENST00000228928.7 + 9 2263 c.e9+1 RP1-71H24.1_ENST00000552784.1_RNA NM_006187.2 NP_006178.2 Q9Y6K5 OAS3_HUMAN 2'-5'-oligoadenylate synthetase 3, 100kDa interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway microsome ATP binding|nucleotidyltransferase activity|RNA binding p.?(1) breast(3)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|skin(2) 27 GAAAACCCAGGTGAAGACCCG 0.557000 108 290 0 0 1 0 0 QRFPR 84109 broad.mit.edu 37 4 122250677 122250677 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:122250677C>T ENST00000394427.2 - 6 1499 c.1088G>A c.(1087-1089)gGa>gAa p.G363E QRFPR_ENST00000334383.5_3'UTR NM_198179.2 NP_937822.2 Q96P65 QRFPR_HUMAN pyroglutamylated RFamide peptide receptor 363 plasma membrane neuropeptide Y receptor activity endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|prostate(2)|skin(3)|stomach(1) 28 TCCTGAATTTCCATGCCTTTG 0.363000 65 128 0 0 1 0 0 MAP10 54627 broad.mit.edu 37 1 232943108 232943108 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:232943108G>A ENST00000418460.1 + 1 2466 c.2339G>A c.(2338-2340)gGa>gAa p.G780E NM_019090.2 NP_061963.2 microtubule-associated protein 10 ATTCTGGGAGGAAATGTGGAA 0.353000 87 98 0 0 1 0 0 AGO2 27161 broad.mit.edu 37 8 141554373 141554373 + Missense_Mutation SNP A A T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:141554373A>T ENST00000220592.5 - 14 1890 c.1778T>A c.(1777-1779)tTt>tAt p.F593Y AGO2_ENST00000519980.1_Missense_Mutation_p.F593Y NM_012154.3 NP_036286.2 argonaute RISC catalytic component 2 TGCTCCCAGAAAGATGACGGG 0.647000 6 219 0 0 1 0 0 HPS1 3257 broad.mit.edu 37 10 100195477 100195477 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:100195477G>A ENST00000325103.6 - 4 403 c.170C>T c.(169-171)tCc>tTc p.S57F HPS1_ENST00000361490.4_Missense_Mutation_p.S57F|HPS1_ENST00000467246.1_5'UTR|HPS1_ENST00000338546.5_Missense_Mutation_p.S57F NM_000195.3 NP_000186.2 Q92902 HPS1_HUMAN Hermansky-Pudlak syndrome 1 57 lysosome organization|response to stimulus|visual perception cytoplasmic membrane-bounded vesicle|integral to plasma membrane|lysosome|membrane fraction|soluble fraction protein dimerization activity breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 23 Colorectal(252;0.234) Epithelial(162;3.87e-12)|all cancers(201;5.63e-10) CGTCATGGAGGAGATGATGAC 0.547000 Hermansky-Pudlak syndrome 35 103 0 0 1 0 0 C10orf137 26098 broad.mit.edu 37 10 127424307 127424307 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:127424307C>T ENST00000337623.3 + 12 1595 c.1490C>T c.(1489-1491)tCt>tTt p.S497F C10orf137_ENST00000356792.4_Missense_Mutation_p.S531F NM_015608.2 NP_056423.2 Q3B7T1 EDRF1_HUMAN chromosome 10 open reading frame 137 531 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(20)|ovary(8)|pancreas(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4) 61 all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936) AATGAGAATTCTGATGAAAGT 0.373000 26 65 0 0 1 0 0 CROCCP2 84809 broad.mit.edu 37 1 16959629 16959629 + RNA SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:16959629G>A ENST00000412962.1 - 0 74 ACCCACCAGGGACCCTCCTGG 0.602000 13 104 0 0 1 0 0 ST18 9705 broad.mit.edu 37 8 53073958 53073958 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:53073958C>T ENST00000276480.7 - 14 2254 c.1571G>A c.(1570-1572)cGa>cAa p.R524Q NM_014682.2 NP_055497.1 O60284 ST18_HUMAN suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein) 524 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.R524Q(1) NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 85 Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229) TGGTGTTTTTCGTCCTTGCAC 0.438000 67 94 0 0 1 0 0 PTPN23 25930 broad.mit.edu 37 3 47454600 47454600 + Missense_Mutation SNP A A C TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:47454600A>C ENST00000265562.4 + 25 4913 c.4836A>C c.(4834-4836)caA>caC p.Q1612H PTPN23_ENST00000431726.1_Missense_Mutation_p.Q1486H NM_015466.2 NP_056281.1 Q9H3S7 PTN23_HUMAN protein tyrosine phosphatase, non-receptor type 23 1612 cilium morphogenesis cilium|cytoplasmic membrane-bounded vesicle|microtubule basal body protein tyrosine phosphatase activity breast(3)|central_nervous_system(1)|large_intestine(5)|lung(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 23 BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) ATAACGGGCAAGGGCTGCGGG 0.607000 31 65 0 0 1 0 0 CD36 948 broad.mit.edu 37 7 80295759 80295759 + Splice_Site SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:80295759G>A ENST00000435819.1 + 11 1386 c.701_splice c.e11-1 p.R234_splice CD36_ENST00000432207.1_Splice_Site_p.R234_splice|CD36_ENST00000534394.1_Splice_Site_p.R158_splice|CD36_ENST00000447544.2_Splice_Site_p.R234_splice|CD36_ENST00000544133.1_Splice_Site_p.R234_splice|CD36_ENST00000309881.7_Splice_Site_p.R234_splice|CD36_ENST00000433696.2_Intron|CD36_ENST00000394788.3_Splice_Site_p.R234_splice|CD36_ENST00000538969.1_Splice_Site_p.R174_splice P16671 CD36_HUMAN CD36 molecule (thrombospondin receptor) 234 cell adhesion|cGMP-mediated signaling|cholesterol transport|lipid metabolic process|lipid storage|lipoprotein transport|low-density lipoprotein particle clearance|nitric oxide mediated signal transduction|plasma membrane long-chain fatty acid transport|platelet activation|platelet degranulation|positive regulation of cell-matrix adhesion|positive regulation of macrophage derived foam cell differentiation integral to plasma membrane|membrane fraction|platelet alpha granule membrane lipid binding|low-density lipoprotein receptor activity|thrombospondin receptor activity|transforming growth factor beta binding breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(10)|large_intestine(1)|lung(6)|ovary(1) 21 CTATTCCTAGGAATCTGTCCT 0.313000 26 101 0 0 1 0 0 SLC13A2 9058 broad.mit.edu 37 17 26823585 26823585 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:26823585G>A ENST00000444914.3 + 11 2155 c.1735G>A c.(1735-1737)Gac>Aac p.D579N SLC13A2_ENST00000545060.1_Missense_Mutation_p.D487N|SLC13A2_ENST00000314669.5_Missense_Mutation_p.D530N|SLC13A2_ENST00000537681.1_Missense_Mutation_p.D459N NM_001145975.1 NP_001139447.1 Q13183 S13A2_HUMAN solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 2 530 integral to plasma membrane|membrane fraction low affinity sodium:dicarboxylate symporter activity breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 all_lung(13;0.000871)|Lung NSC(42;0.0027) UCEC - Uterine corpus endometrioid carcinoma (53;0.154) Succinic acid(DB00139) CTCTTTCGGGGACCTCAAAGT 0.557000 47 104 0 0 1 0 0 PREX2 80243 broad.mit.edu 37 8 69002814 69002814 + Splice_Site SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:69002814G>A ENST00000288368.4 + 20 2391 c.2113_splice c.e20-1 p.G705_splice RP11-403D15.2_ENST00000526901.1_RNA|PREX2_ENST00000529398.1_3'UTR NM_024870.2|NM_025170.4 NP_079146.2|NP_079446.3 Q70Z35 PREX2_HUMAN phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 705 PDZ 2. G-protein coupled receptor protein signaling pathway|intracellular signal transduction intracellular protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2) 178 GTATTTATAGGAACTGTGGCT 0.353000 29 96 0 0 1 0 0 POTEC 388468 broad.mit.edu 37 18 14533139 14533139 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr18:14533139C>T ENST00000358970.5 - 5 975 c.976G>A c.(976-978)Gag>Aag p.E326K POTEC_ENST00000389891.4_5'UTR NM_001137671.1 NP_001131143.1 B2RU33 POTEC_HUMAN POTE ankyrin domain family, member C 326 NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3) 52 ACATTTTGCTCAAGGAGAAGA 0.373000 103 166 0 0 1 0 0 STK32A 202374 broad.mit.edu 37 5 146754674 146754674 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:146754674C>T ENST00000397936.3 + 11 1258 c.925C>T c.(925-927)Cct>Tct p.P309S STK32A_ENST00000398523.3_Missense_Mutation_p.P309S NM_001112724.1 NP_001106195.1 Q8WU08 ST32A_HUMAN serine/threonine kinase 32A 309 ATP binding|metal ion binding|protein serine/threonine kinase activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|prostate(1)|skin(1) 13 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GAATTGTGATCCTACCTTTGA 0.398000 6 14 0 0 1 0 0 FAT3 120114 broad.mit.edu 37 11 92430582 92430582 + Nonsense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:92430582C>T ENST00000298047.6 + 3 3657 c.3640C>T c.(3640-3642)Cga>Tga p.R1214* FAT3_ENST00000409404.2_Nonsense_Mutation_p.R1214*|FAT3_ENST00000525166.1_Nonsense_Mutation_p.R1064* Q8TDW7 FAT3_HUMAN FAT atypical cadherin 3 1214 Cadherin 11. homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 85 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) GAAATTGGATCGAGAACAGCA 0.373000 TCGA Ovarian(4;0.039) 16 42 0 0 1 0 0 GPATCH8 23131 broad.mit.edu 37 17 42476346 42476346 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:42476346G>A ENST00000434000.1 - 9 3147 c.2865C>T c.(2863-2865)tcC>tcT p.S955S GPATCH8_ENST00000591680.1_Silent_p.S1033S Q9UKJ3 GPTC8_HUMAN G patch domain containing 8 1033 Ser-rich. intracellular nucleic acid binding|zinc ion binding breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 50 Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.206) GGGGGGACTGGGAGCGGTAGA 0.562000 30 58 0 0 1 0 0 ZNF2 7549 broad.mit.edu 37 2 95847590 95847590 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:95847590C>T ENST00000398107.2 + 4 1413 c.891C>T c.(889-891)gaC>gaT p.D297D ZNF2_ENST00000425369.1_Silent_p.D259D|ZNF2_ENST00000295210.6_Silent_p.D301D|ZNF2_ENST00000453539.2_Silent_p.D352D|ZNF2_ENST00000340539.5_Silent_p.D339D NM_001017396.1 NP_001017396.1 Q9BSG1 ZNF2_HUMAN zinc finger protein 2 338 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(4)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(1) 12 Ovarian(717;0.00768) READ - Rectum adenocarcinoma(193;0.0222) ATGCTGGGGACCCTCGCTATC 0.483000 33 83 0 0 1 0 0 ZNF484 83744 broad.mit.edu 37 9 95610777 95610777 + Nonsense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:95610777G>A ENST00000395505.2 - 3 276 c.184C>T c.(184-186)Cag>Tag p.Q62* ZNF484_ENST00000332591.6_Nonsense_Mutation_p.Q62*|ZNF484_ENST00000375495.3_Nonsense_Mutation_p.Q98*|ANKRD19P_ENST00000473204.1_RNA|ZNF484_ENST00000395506.3_Nonsense_Mutation_p.Q100* NM_001261459.1|NM_001261460.1 NP_001248388.1|NP_001248389.1 Q5JVG2 ZN484_HUMAN zinc finger protein 484 98 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|cervix(1)|kidney(8)|large_intestine(10)|lung(10)|prostate(2) 33 ATCTCAGACTGGAAAGAAACT 0.333000 33 68 0 0 1 0 0 AKAP8 10270 broad.mit.edu 37 19 15484055 15484055 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:15484055G>A ENST00000269701.2 - 5 528 c.468C>T c.(466-468)ttC>ttT p.F156F NM_005858.3 NP_005849.1 O43823 AKAP8_HUMAN A kinase (PRKA) anchor protein 8 156 signal transduction nuclear matrix p.F156F(1) breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2) 26 ACCCCAGGTCGAACTCATAGT 0.652000 29 72 0 0 1 0 0 LOC653786 653786 broad.mit.edu 37 16 22563767 22563767 + RNA SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr16:22563767C>T ENST00000550753.1 + 0 1422 NR_003676.2 CTAAATAATTCCTCTGGGCTG 0.478000 22 216 0 0 1 0 0 PTPRS 5802 broad.mit.edu 37 19 5223146 5223146 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:5223146G>A ENST00000372412.4 - 18 2893 c.2660C>T c.(2659-2661)tCc>tTc p.S887F PTPRS_ENST00000587303.1_Missense_Mutation_p.S886F|PTPRS_ENST00000262963.6_Missense_Mutation_p.S882F|PTPRS_ENST00000357368.4_Missense_Mutation_p.S886F|PTPRS_ENST00000353284.2_Intron|PTPRS_ENST00000348075.2_Missense_Mutation_p.S864F|PTPRS_ENST00000592099.1_Intron|PTPRS_ENST00000588012.1_Missense_Mutation_p.S864F|PTPRS_ENST00000588552.1_Intron Q13332 PTPRS_HUMAN protein tyrosine phosphatase, receptor type, S 886 Fibronectin type-III 6. cell adhesion integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1) 61 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182) GCGGTCCTCGGAGGGCGGGAA 0.731000 6 12 0 0 1 0 0 MEGF6 1953 broad.mit.edu 37 1 3410560 3410560 + Splice_Site SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:3410560C>T ENST00000356575.4 - 33 4484 c.4258_splice c.e33+1 p.G1420_splice MEGF6_ENST00000294599.4_Intron NM_001409.3 NP_001400.3 O75095 MEGF6_HUMAN multiple EGF-like-domains 6 1420 extracellular region calcium ion binding cervix(2)|endometrium(3)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 19 all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105) all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211) Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213) AAGCACTCACCCCTCTCACAG 0.687000 13 15 0 0 1 0 0 ADD2 119 broad.mit.edu 37 2 70903850 70903850 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:70903850C>T ENST00000413157.2 - 13 2150 c.1671G>A c.(1669-1671)caG>caA p.Q557Q ADD2_ENST00000264436.3_Intron|ADD2_ENST00000430656.1_Silent_p.Q573Q|ADD2_ENST00000355733.3_Intron|ADD2_ENST00000407644.2_Intron NM_017482.3 NP_059516.2 P35612 ADDB_HUMAN adducin 2 (beta) 0 actin filament bundle assembly|barbed-end actin filament capping|positive regulation of protein binding cytoplasm|F-actin capping protein complex|plasma membrane actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2) 36 CTCAGGGGTCCTGCAACCCAG 0.622000 19 13 0 0 1 0 0 COL6A6 131873 broad.mit.edu 37 3 130287021 130287021 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:130287021G>A ENST00000358511.6 + 5 2005 c.1974G>A c.(1972-1974)cgG>cgA p.R658R COL6A6_ENST00000453409.2_Silent_p.R658R NM_001102608.1 NP_001096078.1 A6NMZ7 CO6A6_HUMAN collagen, type VI, alpha 6 658 Nonhelical region.|VWFA 4. axon guidance|cell adhesion collagen NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 134 GACCAGATCGGGTGCAAATTG 0.413000 67 130 0 0 1 0 0 SLC9A2 6549 broad.mit.edu 37 2 103300777 103300777 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:103300777C>T ENST00000233969.2 + 5 1549 c.1407C>T c.(1405-1407)ttC>ttT p.F469F NM_003048.3 NP_003039.2 Q9UBY0 SL9A2_HUMAN solute carrier family 9, subfamily A (NHE2, cation proton antiporter 2), member 2 469 integral to membrane|plasma membrane sodium:hydrogen antiporter activity breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 42 TTGTCATATTCTTTACTGTCT 0.403000 73 153 0 0 1 0 0 SLC9A2 6549 broad.mit.edu 37 2 103281581 103281581 + Missense_Mutation SNP C C T rs146727651 TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:103281581C>T ENST00000233969.2 + 3 918 c.776C>T c.(775-777)tCg>tTg p.S259L NM_003048.3 NP_003039.2 Q9UBY0 SL9A2_HUMAN solute carrier family 9, subfamily A (NHE2, cation proton antiporter 2), member 2 259 integral to membrane|plasma membrane sodium:hydrogen antiporter activity breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 42 TTGTTCAAGTCGTTTTGCCAG 0.453000 80 169 0 0 1 0 0 SCN11A 11280 broad.mit.edu 37 3 38968369 38968369 + Missense_Mutation SNP C C G TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:38968369C>G ENST00000302328.3 - 4 740 c.542G>C c.(541-543)aGa>aCa p.R181T SCN11A_ENST00000444237.2_Missense_Mutation_p.R181T|SCN11A_ENST00000456224.3_Missense_Mutation_p.R181T|SCN11A_ENST00000450244.1_Missense_Mutation_p.R181T NM_014139.2 NP_054858.2 Q9UI33 SCNBA_HUMAN sodium channel, voltage-gated, type XI, alpha subunit 181 response to drug voltage-gated sodium channel complex voltage-gated sodium channel activity NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3) 119 Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226) Cocaine(DB00907) AATGAAACCTCTTGCCAATAT 0.338000 52 95 0 0 1 0 0 BICD1 636 broad.mit.edu 37 12 32458720 32458720 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:32458720G>A ENST00000548411.1 + 4 850 c.669G>A c.(667-669)ttG>ttA p.L223L BICD1_ENST00000281474.5_Silent_p.L223L NM_001003398.1 NP_001003398.1 Q96G01 BICD1_HUMAN bicaudal D homolog 1 (Drosophila) 223 anatomical structure morphogenesis|intracellular mRNA localization|microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule|positive regulation of receptor-mediated endocytosis|protein localization to organelle|RNA processing|stress granule assembly|viral reproduction cytoplasmic vesicle|cytoskeleton|cytosol|host cell viral assembly compartment|membrane|perinuclear region of cytoplasm|trans-Golgi network cytoskeletal adaptor activity|dynactin binding|dynein binding|proteinase activated receptor binding|Rab GTPase binding|structural constituent of cytoskeleton NS(1)|breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 46 all_cancers(9;5.13e-11)|all_epithelial(9;2.71e-11)|all_lung(12;6.66e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0213)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204) OV - Ovarian serous cystadenocarcinoma(6;0.0201) CCATCCGATTGAAAGAGATTG 0.458000 50 50 0 0 1 0 0 NCOA7 135112 broad.mit.edu 37 6 126210385 126210385 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:126210385C>T ENST00000368357.3 + 10 1537 c.1185C>T c.(1183-1185)tcC>tcT p.S395S NCOA7_ENST00000392477.2_Silent_p.S395S|NCOA7_ENST00000229634.9_Silent_p.S280S NM_001199619.1|NM_001199620.1 NP_001186548.1|NP_001186549.1 Q8NI08 NCOA7_HUMAN nuclear receptor coactivator 7 395 cell wall macromolecule catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(2) 39 UCEC - Uterine corpus endometrioid carcinoma (4;0.0803)|GBM - Glioblastoma multiforme(226;0.0193)|all cancers(137;0.237) AGGAACCTTCCGACACTTCTT 0.448000 25 74 0 0 1 0 0 GLRX2 51022 broad.mit.edu 37 1 193070310 193070310 + Silent SNP A A G TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:193070310A>G ENST00000367440.3 - 2 622 c.147T>C c.(145-147)tcT>tcC p.S49S GLRX2_ENST00000472197.1_5'UTR|GLRX2_ENST00000367439.3_Silent_p.S48S NM_001243399.1|NM_016066.4 NP_001230328.1|NP_057150.2 Q9NS18 GLRX2_HUMAN glutaredoxin 2 48 apoptosis|cell differentiation|cell redox homeostasis|DNA protection|electron transport chain|glutathione metabolic process|protein thiol-disulfide exchange|regulation of signal transduction|regulation of transcription, DNA-dependent|response to hydrogen peroxide|response to organic substance|response to redox state|response to temperature stimulus|transport mitochondrion|nucleus 2 iron, 2 sulfur cluster binding|arsenate reductase (glutaredoxin) activity|electron carrier activity|glutathione disulfide oxidoreductase activity|metal ion binding|protein disulfide oxidoreductase activity breast(1)|large_intestine(1)|lung(3) 5 Glutathione(DB00143) AATTCTCCAAAGATGATGATG 0.343000 6 88 0 0 1 0 0 MEOX2 4223 broad.mit.edu 37 7 15666531 15666531 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:15666531C>T ENST00000262041.5 - 2 939 c.530G>A c.(529-531)gGa>gAa p.G177E NM_005924.4 NP_005915.2 P50222 MEOX2_HUMAN mesenchyme homeobox 2 177 blood circulation|multicellular organismal development cytoplasm|nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 24 UCEC - Uterine corpus endometrioid carcinoma (126;0.0822) CTTGTAATTTCCTTCCTGGGA 0.348000 48 91 0 0 1 0 0 PCDHB7 56129 broad.mit.edu 37 5 140552978 140552978 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:140552978G>A ENST00000231137.3 + 1 736 c.562G>A c.(562-564)Ggg>Agg p.G188R NM_018940.2 NP_061763.1 Q9Y5E2 PCDB7_HUMAN 188 Cadherin 2. calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1) 119 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TAGCGGGGAGGGGAATATCTA 0.493000 36 65 0 0 1 0 0 SSPO 23145 broad.mit.edu 37 7 149490421 149490421 + RNA SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:149490421G>A ENST00000378016.2 + 0 5897 A2VEC9 SSPO_HUMAN SCO-spondin cell adhesion extracellular space peptidase inhibitor activity Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) CCCTGTGAGGGGTGTGAGCAT 0.647000 13 38 0 0 1 0 0 GABBR1 2550 broad.mit.edu 37 6 29581167 29581167 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:29581167G>A ENST00000377034.4 - 12 1754 c.1419C>T c.(1417-1419)gcC>gcT p.A473A GABBR1_ENST00000355973.3_Silent_p.A356A|GABBR1_ENST00000377016.4_Silent_p.A411A|GABBR1_ENST00000377012.4_Silent_p.A356A|GABBR1_ENST00000376977.3_Silent_p.A473A NM_001470.2 NP_001461.1 Q9UBS5 GABR1_HUMAN gamma-aminobutyric acid (GABA) B receptor, 1 473 gamma-aminobutyric acid signaling pathway|negative regulation of adenylate cyclase activity|synaptic transmission cell junction|extracellular region|integral to plasma membrane|postsynaptic membrane G-protein coupled receptor activity|GABA-B receptor activity endometrium(3)|kidney(1)|large_intestine(13)|liver(1)|lung(16)|ovary(5)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 Baclofen(DB00181)|Progabide(DB00837) AGGCCCAGATGGCATCATAGG 0.562000 48 228 0 0 1 0 0 ZNF335 63925 broad.mit.edu 37 20 44582525 44582525 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr20:44582525G>A ENST00000322927.2 - 18 2605 c.2505C>T c.(2503-2505)tcC>tcT p.S835S ZNF335_ENST00000426788.1_Silent_p.S680S NM_022095.3 NP_071378.1 Q9H4Z2 ZN335_HUMAN zinc finger protein 335 835 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(13)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 51 Myeloproliferative disorder(115;0.0122) CACCTTCAGGGGAGGGCTGCC 0.667000 7 30 0 0 1 0 0 BAIAP2 10458 broad.mit.edu 37 17 79073861 79073861 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:79073861C>T ENST00000321300.6 + 7 716 c.623C>T c.(622-624)tCc>tTc p.S208F BAIAP2_ENST00000435091.3_Missense_Mutation_p.S208F|BAIAP2_ENST00000575245.1_Missense_Mutation_p.S241F|BAIAP2_ENST00000321280.7_Missense_Mutation_p.S208F|BAIAP2_ENST00000428708.2_Missense_Mutation_p.S208F|BAIAP2_ENST00000416299.2_Missense_Mutation_p.S71F|BAIAP2_ENST00000575712.1_Missense_Mutation_p.S208F|BAIAP2_ENST00000392411.3_Missense_Mutation_p.S130F NM_001144888.1|NM_017451.2 NP_001138360.1|NP_059345.1 Q9UQB8 BAIP2_HUMAN BAI1-associated protein 2 208 IMD. axonogenesis|filopodium assembly|insulin receptor signaling pathway|regulation of actin cytoskeleton organization|response to bacterium cell junction|cytoskeleton|cytosol|filopodium|nucleus|ruffle cytoskeletal adaptor activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|skin(1) 18 all_neural(118;0.101) BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524) GCCAAGAACTCCGCGGCCTAC 0.672000 24 73 0 0 1 0 0 KIAA1217 56243 broad.mit.edu 37 10 24669980 24669980 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:24669980G>A ENST00000376454.3 + 3 567 c.537G>A c.(535-537)acG>acA p.T179T KIAA1217_ENST00000376452.3_Silent_p.T179T|KIAA1217_ENST00000430453.2_Silent_p.T100T|KIAA1217_ENST00000376462.1_Silent_p.T99T|KIAA1217_ENST00000458595.1_Silent_p.T179T NM_019590.3 NP_062536.2 Q5T5P2 SKT_HUMAN KIAA1217 179 embryonic skeletal system development cytoplasm breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1) 70 CCAACCAGACGAAAGAAAGAT 0.478000 31 60 0 0 1 0 0 RYR1 6261 broad.mit.edu 37 19 38946161 38946161 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:38946161G>A ENST00000355481.4 + 15 1778 c.1647G>A c.(1645-1647)aaG>aaA p.K549K RYR1_ENST00000360985.3_Silent_p.K549K|RYR1_ENST00000359596.3_Silent_p.K549K NM_000540.2|NM_001042723.1 NP_000531.2|NP_001036188.1 P21817 RYR1_HUMAN ryanodine receptor 1 (skeletal) 549 muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7) 285 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) TGGTCAGCAAGCTGGATCGGC 0.587000 37 58 0 0 1 0 0 NLRP8 126205 broad.mit.edu 37 19 56467284 56467284 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:56467284C>T ENST00000291971.3 + 3 1931 c.1860C>T c.(1858-1860)gcC>gcT p.A620A NLRP8_ENST00000590542.1_Silent_p.A620A NM_176811.2 NP_789781.2 Q86W28 NALP8_HUMAN NLR family, pyrin domain containing 8 620 cytoplasm ATP binding breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2) 35 Colorectal(82;0.000147)|Ovarian(87;0.17) GBM - Glioblastoma multiforme(193;0.0695) GGGAGGAAGCCTTTGTAAGCC 0.453000 6 113 0 0 1 0 0 DNAH8 1769 broad.mit.edu 37 6 38770974 38770974 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:38770974C>T ENST00000359357.3 + 20 2524 c.2270C>T c.(2269-2271)gCt>gTt p.A757V DNAH8_ENST00000441566.1_Missense_Mutation_p.A757V|DNAH8_ENST00000449981.2_Missense_Mutation_p.A974V dynein, axonemal, heavy chain 8 NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4) 260 AAAGAATGGGCTGACATTCTA 0.303000 19 66 0 0 1 0 0 CUBN 8029 broad.mit.edu 37 10 16877070 16877070 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:16877070G>A ENST00000377833.4 - 64 10370 c.10305C>T c.(10303-10305)ctC>ctT p.L3435L NM_001081.3 NP_001072.2 O60494 CUBN_HUMAN cubilin (intrinsic factor-cobalamin receptor) 3435 CUB 26. cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8) 241 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) AATGAAAAAAGAGGGAAATGG 0.423000 31 74 0 0 1 0 0 CCDC114 93233 broad.mit.edu 37 19 48805955 48805955 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:48805955C>T ENST00000315396.7 - 10 1807 c.1125G>A c.(1123-1125)aaG>aaA p.K375K NM_144577.3 NP_653178.3 Q96M63 CC114_HUMAN coiled-coil domain containing 114 375 cervix(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1) 24 all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000162)|Epithelial(262;0.0134)|GBM - Glioblastoma multiforme(486;0.0143) GCTCACCAGCCTTGAGCTTCT 0.642000 44 72 0 0 1 0 0 SLC27A6 28965 broad.mit.edu 37 5 128365398 128365398 + Nonsense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:128365398C>T ENST00000262462.4 + 9 2691 c.1681C>T c.(1681-1683)Cag>Tag p.Q561* SLC27A6_ENST00000506176.1_Nonsense_Mutation_p.Q561*|SLC27A6_ENST00000395266.1_Nonsense_Mutation_p.Q561* Q9Y2P4 S27A6_HUMAN solute carrier family 27 (fatty acid transporter), member 6 561 long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process integral to membrane|sarcolemma fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1) 44 all_cancers(142;0.0483)|Prostate(80;0.055) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186) TTTAAGAATTCAGGTAATTTT 0.279000 23 39 0 0 1 0 0 IL36B 27177 broad.mit.edu 37 2 113780333 113780333 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:113780333G>A ENST00000259213.4 - 6 520 c.413C>T c.(412-414)tCc>tTc p.S138F NM_014438.3 NP_055253.2 Q9NZH7 IL36B_HUMAN interleukin 36, beta 138 immune response extracellular space cytokine activity|interleukin-1 receptor binding kidney(1)|ovary(1)|pancreas(1) 3 ATGTTGAAAGGAACTCTTCCA 0.433000 19 63 0 0 1 0 0 TGFBI 7045 broad.mit.edu 37 5 135379792 135379792 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:135379792G>A ENST00000442011.2 + 3 440 c.279G>A c.(277-279)ggG>ggA p.G93G TGFBI_ENST00000504185.1_3'UTR|TGFBI_ENST00000305126.8_Silent_p.G93G NM_000358.2 NP_000349.1 Q15582 BGH3_HUMAN transforming growth factor, beta-induced, 68kDa 93 EMI. angiogenesis|cell adhesion|cell proliferation|negative regulation of cell adhesion|response to stimulus|visual perception extracellular space|proteinaceous extracellular matrix integrin binding breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 32 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) AGGTCCCTGGGGAGAAGGGCT 0.532000 65 163 0 0 1 0 0 IPPK 64768 broad.mit.edu 37 9 95396671 95396671 + Silent SNP C C T rs112068349 byFrequency TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:95396671C>T ENST00000287996.3 - 11 1443 c.1167G>A c.(1165-1167)acG>acA p.T389T IPPK_ENST00000375522.1_Silent_p.T61T NM_022755.5 NP_073592.1 Q9H8X2 IPPK_HUMAN inositol 1,3,4,5,6-pentakisphosphate 2-kinase 389 inositol or phosphatidylinositol phosphorylation cytoplasm|nucleus ATP binding|inositol pentakisphosphate 2-kinase activity autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(2)|urinary_tract(1) 15 TGCCCACCTTCGTTAGCGCGA 0.423000 OREG0019315 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 34 72 0 0 1 0 0 JMJD1C 221037 broad.mit.edu 37 10 64974085 64974085 + Silent SNP A A G TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:64974085A>G ENST00000399262.2 - 8 2060 c.1842T>C c.(1840-1842)caT>caC p.H614H JMJD1C_ENST00000402544.1_Silent_p.H395H|JMJD1C_ENST00000542921.1_Silent_p.H432H|JMJD1C_ENST00000399251.1_Silent_p.H395H NM_032776.1 NP_116165.1 Q15652 JHD2C_HUMAN jumonji domain containing 1C 614 blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleoplasm histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3) 77 Prostate(12;0.0119)|all_hematologic(501;0.191) GACTTCGCTTATGCAGCTTAT 0.373000 51 89 0 0 1 0 0 OR6B1 135946 broad.mit.edu 37 7 143701716 143701716 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:143701716C>T ENST00000408922.2 + 1 695 c.627C>T c.(625-627)ttC>ttT p.F209F NM_001005281.1 NP_001005281.1 O95007 OR6B1_HUMAN olfactory receptor, family 6, subfamily B, member 1 209 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(3)|large_intestine(3)|lung(15)|ovary(2)|skin(2)|urinary_tract(1) 27 Melanoma(164;0.0783) TCTTCCTATTCCCACTCTTTA 0.468000 54 248 0 0 1 0 0 TSHZ3 57616 broad.mit.edu 37 19 31767880 31767880 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:31767880C>T ENST00000240587.4 - 2 3146 c.2819G>A c.(2818-2820)gGg>gAg p.G940E NM_020856.2 NP_065907.2 Q63HK5 TSH3_HUMAN teashirt zinc finger homeobox 3 940 negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process growth cone|nucleus chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.G757V(1)|p.G940V(1) breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5) 123 Esophageal squamous(110;0.226) CATGGACAGCCCGGTGAACCT 0.572000 14 54 0 0 1 0 0 TSKU 25987 broad.mit.edu 37 11 76507266 76507266 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:76507266C>T ENST00000527881.1 + 2 1632 c.606C>T c.(604-606)ctC>ctT p.L202L TSKU_ENST00000333090.4_Silent_p.L202L Q8WUA8 TSK_HUMAN tsukushi, small leucine rich proteoglycan 202 extracellular region NS(1)|large_intestine(4)|lung(6)|urinary_tract(1) 12 Ovarian(111;0.112) TGCCCAACCTCCGAGACTTGC 0.672000 65 149 0 0 1 0 0 OLFM4 10562 broad.mit.edu 37 13 53624588 53624588 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr13:53624588G>A ENST00000219022.2 + 5 1293 c.1215G>A c.(1213-1215)atG>atA p.M405I NM_006418.4 NP_006409.3 Q6UX06 OLFM4_HUMAN olfactomedin 4 405 Olfactomedin-like. cell adhesion extracellular space breast(2)|endometrium(4)|kidney(4)|large_intestine(5)|lung(20)|skin(3)|urinary_tract(1) 39 Breast(56;0.000776)|Lung NSC(96;0.000814)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173) GBM - Glioblastoma multiforme(99;3.13e-08) CTGGTAACATGGTGATTAGTA 0.413000 52 142 0 0 1 0 0 MKS1 54903 broad.mit.edu 37 17 56290392 56290392 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:56290392G>A ENST00000393119.2 - 8 883 c.809C>T c.(808-810)cCc>cTc p.P270L MKS1_ENST00000313863.6_Missense_Mutation_p.P270L|MKS1_ENST00000537529.2_Missense_Mutation_p.P260L|MKS1_ENST00000546108.1_Missense_Mutation_p.P67L|MKS1_ENST00000337050.7_Missense_Mutation_p.P270L NM_017777.3 NP_060247.2 Q9NXB0 MKS1_HUMAN Meckel syndrome, type 1 270 cilium assembly centrosome|cilium|microtubule basal body protein binding endometrium(5)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 26 CTGTGCGTGGGGGGAAACATT 0.522000 41 121 0 0 1 0 0 TET3 200424 broad.mit.edu 37 2 74274272 74274272 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:74274272C>T ENST00000409262.3 + 1 823 c.823C>T c.(823-825)Cct>Tct p.P275S NM_144993.1 NP_659430.1 O43151 TET3_HUMAN tet methylcytosine dioxygenase 3 275 metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 GCCTGTGGTTCCTCCTGAAGA 0.597000 42 64 0 0 1 0 0 ASPRV1 151516 broad.mit.edu 37 2 70188518 70188518 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:70188518G>A ENST00000320256.4 - 1 879 c.303C>T c.(301-303)ttC>ttT p.F101F NM_152792.2 NP_690005.2 Q53RT3 APRV1_HUMAN aspartic peptidase, retroviral-like 1 101 protein maturation by peptide bond cleavage|skin development aspartic-type endopeptidase activity endometrium(3)|large_intestine(4)|lung(6)|ovary(1) 14 GTTCCGGGACGAAGGCATGCT 0.582000 39 88 0 0 1 0 0 HMGCR 3156 broad.mit.edu 37 5 74646166 74646166 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:74646166G>A ENST00000287936.4 + 8 903 c.747G>A c.(745-747)ccG>ccA p.P249P HMGCR_ENST00000511206.1_Silent_p.P249P|HMGCR_ENST00000343975.5_Silent_p.P249P NM_000859.2 NP_000850.1 P04035 HMDH_HUMAN 3-hydroxy-3-methylglutaryl-CoA reductase 249 cholesterol biosynthetic process|coenzyme A metabolic process|germ cell migration|gonad development|isoprenoid biosynthetic process endoplasmic reticulum membrane|integral to membrane|peroxisomal membrane hydroxymethylglutaryl-CoA reductase (NADPH) activity|NADP binding breast(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1) 20 all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174) OV - Ovarian serous cystadenocarcinoma(47;2.24e-54) Atorvastatin(DB01076)|Bezafibrate(DB01393)|Cerivastatin(DB00439)|Fluvastatin(DB01095)|Lovastatin(DB00227)|NADH(DB00157)|Pravastatin(DB00175)|Rosuvastatin(DB01098)|Simvastatin(DB00641) AAAATAAGCCGAATCCTGTAA 0.393000 6 99 0 0 1 0 0 BMP10 27302 broad.mit.edu 37 2 69098399 69098399 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:69098399G>A ENST00000295379.1 - 1 250 c.92C>T c.(91-93)cCt>cTt p.P31L NM_014482.1 NP_055297.1 O95393 BMP10_HUMAN bone morphogenetic protein 10 31 activin receptor signaling pathway|adult heart development|atrial cardiac muscle tissue morphogenesis|BMP signaling pathway|cardiac muscle cell proliferation|heart trabecula formation|negative regulation of cardiac muscle hypertrophy|negative regulation of cell growth|negative regulation of endothelial cell migration|Notch signaling pathway|pathway-restricted SMAD protein phosphorylation|positive regulation of cardiac muscle cell proliferation|positive regulation of cardiac muscle hypertrophy|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent|sarcomere organization|ventricular cardiac muscle cell development|ventricular cardiac muscle tissue morphogenesis cell surface|extracellular space|Z disc cytokine activity|growth factor activity|receptor serine/threonine kinase binding breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(15)|ovary(2) 27 TTCTTCCAGAGGAGACTGCTC 0.502000 41 101 0 0 1 0 0 CCR3 1232 broad.mit.edu 37 3 46307279 46307279 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:46307279C>T ENST00000357422.2 + 4 1173 c.630C>T c.(628-630)ctC>ctT p.L210L CCR3_ENST00000541018.1_Silent_p.L210L|CCR3_ENST00000395942.2_Silent_p.L210L|CCR3_ENST00000545097.1_Silent_p.L231L|CCR3_ENST00000395940.2_Silent_p.L210L P51677 CCR3_HUMAN chemokine (C-C motif) receptor 3 210 cell adhesion|cellular defense response|chemotaxis|elevation of cytosolic calcium ion concentration|G-protein signaling, coupled to cAMP nucleotide second messenger|inflammatory response|interspecies interaction between organisms|positive regulation of angiogenesis integral to plasma membrane breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(3)|urinary_tract(1) 18 BRCA - Breast invasive adenocarcinoma(193;0.00119)|KIRC - Kidney renal clear cell carcinoma(197;0.0183)|Kidney(197;0.0216) GTCTCGTTCTCCCTCTGCTCG 0.463000 22 72 0 0 1 0 0 GABRB2 2561 broad.mit.edu 37 5 160761799 160761799 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:160761799G>A ENST00000274547.2 - 8 1009 c.792C>T c.(790-792)ttC>ttT p.F264F GABRB2_ENST00000520240.1_Silent_p.F264F|GABRB2_ENST00000393959.1_Silent_p.F264F|GABRB2_ENST00000517547.1_Silent_p.F104F|GABRB2_ENST00000353437.6_Silent_p.F264F|GABRB2_ENST00000517901.1_Silent_p.F201F NM_000813.2|NM_021911.2 NP_000804.1|NP_068711.1 P47870 GBRB2_HUMAN gamma-aminobutyric acid (GABA) A receptor, beta 2 264 gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|GABA-A receptor activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 26 Renal(175;0.00259) Medulloblastoma(196;0.021)|all_neural(177;0.0463) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683) AATTAATCCAGAAGGAGACCC 0.433000 33 67 0 0 1 0 0 IL22RA1 58985 broad.mit.edu 37 1 24447430 24447430 + Nonsense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:24447430C>T ENST00000270800.1 - 7 1628 c.1590G>A c.(1588-1590)tgG>tgA p.W530* NM_021258.3 NP_067081.2 Q8N6P7 I22R1_HUMAN interleukin 22 receptor, alpha 1 530 integral to membrane interferon receptor activity breast(2)|endometrium(2)|large_intestine(4)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 19 Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000992)|all_lung(284;0.00138)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;3.84e-24)|Colorectal(126;6.43e-08)|COAD - Colon adenocarcinoma(152;3.51e-06)|GBM - Glioblastoma multiforme(114;5.06e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00911)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.148) CCAGCAGGCCCCAGGGACTTG 0.607000 36 59 0 0 1 0 0 SLC40A1 30061 broad.mit.edu 37 2 190430156 190430156 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:190430156C>T ENST00000261024.2 - 6 1110 c.684G>A c.(682-684)caG>caA p.Q228Q NM_014585.5 NP_055400.1 Q9NP59 S40A1_HUMAN solute carrier family 40 (iron-regulated transporter), member 1 228 anatomical structure morphogenesis|cellular iron ion homeostasis cytoplasm|integral to plasma membrane iron ion transmembrane transporter activity|protein binding endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 14 OV - Ovarian serous cystadenocarcinoma(117;0.000917)|Epithelial(96;0.014)|all cancers(119;0.0491) CTGGGGTTTTCTGGTAAACCT 0.443000 6 91 0 0 1 0 0 CSRP2BP 57325 broad.mit.edu 37 20 18142532 18142532 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr20:18142532C>T ENST00000278816.2 + 6 1401 c.751C>T c.(751-753)Cct>Tct p.P251S CSRP2BP_ENST00000489634.2_Missense_Mutation_p.P123S|CSRP2BP_ENST00000377681.2_Missense_Mutation_p.P250S|CSRP2BP_ENST00000435364.2_Missense_Mutation_p.P251S Q9H8E8 CSR2B_HUMAN CSRP2 binding protein 251 histone H3 acetylation Ada2/Gcn5/Ada3 transcription activator complex|cytoplasm LIM domain binding|N-acetyltransferase activity NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|stomach(1) 34 AAGTCGGAATCCTGTGGAATC 0.443000 86 131 0 0 1 0 0 PDGFRA 5156 broad.mit.edu 37 4 55124952 55124952 + Missense_Mutation SNP C C A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:55124952C>A ENST00000257290.5 + 2 348 c.17C>A c.(16-18)cCg>cAg p.P6Q PDGFRA_ENST00000508170.1_Missense_Mutation_p.P6Q|FIP1L1_ENST00000507166.1_Intron NM_006206.4 NP_006197.1 P16234 PGFRA_HUMAN platelet-derived growth factor receptor, alpha polypeptide 6 cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye cytoplasm|integral to plasma membrane|nucleus ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1) 967 all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08) GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256) Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268) ACTTCCCATCCGGCGTTCCTG 0.468000 """Mis, O, T""" FIP1L1 """GIST, idiopathic hypereosinophilic syndrome, paediatric GBM""" Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis TSP Lung(21;0.16) 44 115 2.68985e-26 2.72057e-26 1 1 0 LILRB5 10990 broad.mit.edu 37 19 54756238 54756238 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:54756238C>T ENST00000450632.1 - 11 1617 c.1540G>A c.(1540-1542)Gaa>Aaa p.E514K LILRB5_ENST00000345866.6_Missense_Mutation_p.E423K|LILRB5_ENST00000316219.5_Missense_Mutation_p.E522K|LILRB5_ENST00000449561.2_Missense_Mutation_p.E523K O75023 LIRB5_HUMAN leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5 522 cell surface receptor linked signaling pathway|defense response integral to membrane transmembrane receptor activity NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 56 all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) CTGAGAATTTCCTCCTGGATG 0.617000 44 93 0 0 1 0 0 TDRKH 11022 broad.mit.edu 37 1 151752615 151752615 + Splice_Site SNP A A C TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:151752615A>C ENST00000368822.1 - 4 866 c.231_splice c.e4-1 p.L78_splice TDRKH_ENST00000440583.2_5'UTR|TDRKH_ENST00000484421.1_5'UTR|TDRKH_ENST00000368825.3_Splice_Site_p.L78_splice|TDRKH_ENST00000368827.6_Splice_Site_p.L78_splice|TDRKH_ENST00000368824.3_Splice_Site_p.L78_splice|TDRKH_ENST00000368823.1_Intron|TDRKH_ENST00000458431.2_Splice_Site_p.L78_splice Q9Y2W6 TDRKH_HUMAN tudor and KH domain containing 78 KH 1. RNA binding breast(5)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 26 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14) LUSC - Lung squamous cell carcinoma(543;0.181) CTGTTTCCGCAGCTGCAAAGA 0.488000 67 105 0 0 1 0 0 DIRAS2 54769 broad.mit.edu 37 9 93375656 93375656 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:93375656C>T ENST00000375765.3 - 2 842 c.454G>A c.(454-456)Gcc>Acc p.A152T NM_017594.3 NP_060064.2 Q96HU8 DIRA2_HUMAN DIRAS family, GTP-binding RAS-like 2 152 small GTPase mediated signal transduction intracellular|plasma membrane GTP binding|GTPase activity p.A152T(1) kidney(1)|large_intestine(6)|lung(3)|skin(2) 12 TTGAGCTTGGCTGAGGTCTCC 0.592000 40 64 0 0 1 0 0 LILRB2 10288 broad.mit.edu 37 19 54783884 54783884 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:54783884G>A ENST00000391748.1 - 4 244 c.117C>T c.(115-117)atC>atT p.I39I LILRB2_ENST00000314446.5_Silent_p.I39I|LILRB2_ENST00000471216.1_5'UTR|LILRB2_ENST00000391749.4_Silent_p.I39I|LILRB2_ENST00000434421.1_Intron|LILRB2_ENST00000391746.1_Silent_p.I39I NM_001278403.1 NP_001265332.1 Q8N423 LIRB2_HUMAN leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2 39 Ig-like C2-type 1. cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response integral to plasma membrane|membrane fraction receptor activity breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 44 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) TCCCCTGGGTGATCACAGAGT 0.527000 77 170 0 0 1 0 0 OR1L4 254973 broad.mit.edu 37 9 125486970 125486970 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:125486970G>A ENST00000259466.1 + 1 702 c.702G>A c.(700-702)ggG>ggA p.G234G NM_001005235.1 NP_001005235.1 Q8NGR5 OR1L4_HUMAN olfactory receptor, family 1, subfamily L, member 4 234 G -> R (in dbSNP:rs2215530). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|large_intestine(3)|lung(13)|prostate(1)|skin(1) 20 CTGCAGCCGGGAAGTGGAAGG 0.512000 87 294 0 0 1 0 0 C1orf168 199920 broad.mit.edu 37 1 57257917 57257917 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:57257917C>T ENST00000343433.6 - 2 649 c.569G>A c.(568-570)gGa>gAa p.G190E C1orf168_ENST00000484327.1_5'UTR NM_001004303.4 NP_001004303.3 Q5VWT5 CA168_HUMAN chromosome 1 open reading frame 168 190 p.G190E(1) NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2) 46 AGTCTGGGCTCCTTTTGTTTC 0.463000 58 90 0 0 1 0 0 RADIL 55698 broad.mit.edu 37 7 4841511 4841511 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:4841511C>T ENST00000399583.3 - 12 2802 c.2615G>A c.(2614-2616)aGg>aAg p.R872K RADIL_ENST00000536091.1_3'UTR|RADIL_ENST00000538469.1_Missense_Mutation_p.R632K NM_018059.4 NP_060529.4 Q96JH8 RADIL_HUMAN Ras association and DIL domains 872 Pro-rich. cell adhesion|multicellular organismal development|signal transduction protein binding NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 Ovarian(82;0.0175) UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15) GGGAGCCCCCCTCAAGGGAAG 0.736000 9 11 0 0 1 0 0 SLC25A25 114789 broad.mit.edu 37 9 130869423 130869423 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:130869423C>T ENST00000373066.5 + 10 1693 c.1286C>T c.(1285-1287)cCc>cTc p.P429L SLC25A25_ENST00000373064.5_Missense_Mutation_p.P397L|SLC25A25_ENST00000373068.2_Missense_Mutation_p.P431L|SLC25A25_ENST00000373069.5_Missense_Mutation_p.P443L|SLC25A25_ENST00000433501.1_Missense_Mutation_p.P294L|SLC25A25_ENST00000432073.2_Missense_Mutation_p.P417L NM_001265614.2 NP_001252543.1 Q6KCM7 SCMC2_HUMAN solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 25 397 transmembrane transport integral to membrane|mitochondrial inner membrane calcium ion binding breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3) 10 GCCAGCTACCCCCTGGCCCTA 0.657000 43 78 0 0 1 0 0 KCTD19 146212 broad.mit.edu 37 16 67323565 67323565 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr16:67323565C>T ENST00000304372.5 - 16 2743 c.2688G>A c.(2686-2688)agG>agA p.R896R NM_001100915.1 NP_001094385.1 Q17RG1 KCD19_HUMAN potassium channel tetramerization domain containing 19 896 voltage-gated potassium channel complex voltage-gated potassium channel activity endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3) 23 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906) GGCCATATTTCCTGGCGAAGG 0.542000 27 26 0 0 1 0 0 PCDHB10 56126 broad.mit.edu 37 5 140572687 140572687 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:140572687G>A ENST00000239446.4 + 1 746 c.562G>A c.(562-564)Ggc>Agc p.G188S NM_018930.3 NP_061753.1 Q9UN67 PCDBA_HUMAN 188 Cadherin 2. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 76 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CGGTGATGAAGGCATGATATA 0.493000 79 217 0 0 1 0 0 SFMBT2 57713 broad.mit.edu 37 10 7262467 7262467 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:7262467C>T ENST00000361972.4 - 11 1326 c.1236G>A c.(1234-1236)atG>atA p.M412I SFMBT2_ENST00000397167.1_Missense_Mutation_p.M412I NM_001018039.1 NP_001018049.1 Q5VUG0 SMBT2_HUMAN Scm-like with four mbt domains 2 412 regulation of transcription, DNA-dependent nucleus NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 99 CTTCAAGTTTCATGTTCTTTG 0.517000 64 126 0 0 1 0 0 TRAF4 9618 broad.mit.edu 37 17 27076587 27076587 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:27076587C>T ENST00000262395.5 + 7 1534 c.1405C>T c.(1405-1407)Ctc>Ttc p.L469F TRAF4_ENST00000262396.6_Missense_Mutation_p.L194F|TRAF4_ENST00000444415.3_Intron NM_004295.3 NP_004286.2 Q9BUZ4 TRAF4_HUMAN TNF receptor-associated factor 4 469 apoptosis|positive regulation of JNK cascade|positive regulation of protein homodimerization activity|positive regulation of protein kinase activity|regulation of apoptosis|signal transduction cytoskeleton|nucleus|perinuclear region of cytoplasm|tight junction DNA binding|ubiquitin-protein ligase activity|WW domain binding|zinc ion binding endometrium(2)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1) 10 Lung NSC(42;0.01) Epithelial(11;3.26e-05)|all cancers(11;0.000272)|OV - Ovarian serous cystadenocarcinoma(11;0.235) CCGGAAGATCCTCAGCTGAGT 0.577000 31 68 0 0 1 0 0 GUCY2C 2984 broad.mit.edu 37 12 14849320 14849320 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:14849320G>A ENST00000261170.3 - 1 199 c.63C>T c.(61-63)tcC>tcT p.S21S RP11-174G6.1_ENST00000501178.2_RNA NM_004963.3 NP_004954.2 P25092 GUC2C_HUMAN guanylate cyclase 2C (heat stable enterotoxin receptor) 21 intracellular signal transduction|receptor guanylyl cyclase signaling pathway integral to membrane ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1) 51 GGGAACTAAAGGACAGCCACC 0.527000 22 28 0 0 1 0 0 OR10A6 390093 broad.mit.edu 37 11 7949505 7949505 + Missense_Mutation SNP T T A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:7949505T>A ENST00000309838.2 - 1 704 c.705A>T c.(703-705)caA>caT p.Q235H NM_001004461.1 NP_001004461.1 Q8NH74 O10A6_HUMAN olfactory receptor, family 10, subfamily A, member 6 235 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 22 Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189) AAAAGGCCTTTTGTCTCCCAG 0.453000 32 29 0 0 1 0 0 ABCC4 10257 broad.mit.edu 37 13 95840707 95840707 + Splice_Site SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr13:95840707C>T ENST00000376887.4 - 10 1467 c.1353_splice c.e10+1 p.K451_splice ABCC4_ENST00000412704.1_Splice_Site_p.K451_splice|ABCC4_ENST00000538287.1_3'UTR|ABCC4_ENST00000431522.1_Splice_Site_p.K451_splice|ABCC4_ENST00000536256.1_Splice_Site_p.K376_splice NM_005845.3 NP_005836.2 O15439 MRP4_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 4 451 ABC transporter 1. platelet activation|platelet degranulation integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane 15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1) 43 all_neural(89;0.0878)|Medulloblastoma(90;0.163) Cefazolin(DB01327) TCTAACTCACCTTCCCTGCTC 0.483000 37 56 0 0 1 0 0 PTPRT 11122 broad.mit.edu 37 20 41420033 41420033 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr20:41420033C>T ENST00000373198.3 - 3 523 c.288G>A c.(286-288)aaG>aaA p.K96K PTPRT_ENST00000373190.1_Silent_p.K96K|PTPRT_ENST00000373193.3_Silent_p.K96K|PTPRT_ENST00000373201.1_Silent_p.K96K|PTPRT_ENST00000373184.1_Silent_p.K96K|PTPRT_ENST00000373187.1_Silent_p.K96K|PTPRT_ENST00000356100.2_Silent_p.K96K NM_133170.3 NP_573400.3 O14522 PTPRT_HUMAN protein tyrosine phosphatase, receptor type, T 96 MAM. homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway cell surface|integral to membrane|plasma membrane alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 176 Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783) TGTCATTCTCCTTCAGGGTTG 0.567000 23 32 0 0 1 0 0 KIAA1549 57670 broad.mit.edu 37 7 138588373 138588373 + Nonsense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:138588373C>T ENST00000440172.1 - 8 3678 c.3630G>A c.(3628-3630)tgG>tgA p.W1210* KIAA1549_ENST00000422774.1_Nonsense_Mutation_p.W1210*|KIAA1549_ENST00000242365.4_Nonsense_Mutation_p.W1160* NM_001164665.1|NM_020910.2 NP_001158137.1|NP_065961.2 Q9HCM3 K1549_HUMAN KIAA1549 1210 integral to membrane KIAA1549/BRAF(703) large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2) 7 TGGCCCTTCTCCACATCCGCC 0.572000 O BRAF pilocytic astrocytoma 17 42 0 0 1 0 0 TCEANC2 127428 broad.mit.edu 37 1 54562033 54562033 + Missense_Mutation SNP C C T rs150173822 by1000genomes TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:54562033C>T ENST00000234827.1 + 5 714 c.514C>T c.(514-516)Cgg>Tgg p.R172W TCEANC2_ENST00000498272.1_3'UTR|TCEANC2_ENST00000371331.1_Missense_Mutation_p.R202W NM_153035.1 NP_694580.1 Q96MN5 TEAN2_HUMAN transcription elongation factor A (SII) N-terminal and central domain containing 2 172 TFIIS central. transcription, DNA-dependent nucleus DNA binding kidney(1)|lung(3)|pancreas(1) 5 TGGGCCGTACCGGCGGACGGT 0.502000 12 114 0 0 1 0 0 OGDHL 55753 broad.mit.edu 37 10 50946010 50946010 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:50946010G>A ENST00000374103.4 - 19 2585 c.2500C>T c.(2500-2502)Ctg>Ttg p.L834L OGDHL_ENST00000419399.1_Silent_p.L777L|OGDHL_ENST00000490844.1_5'UTR|OGDHL_ENST00000432695.1_Silent_p.L625L NM_018245.2 NP_060715.2 Q9ULD0 OGDHL_HUMAN oxoglutarate dehydrogenase-like 834 glycolysis mitochondrial matrix oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1) 61 CGGAAGGGCAGCAGGATCTGC 0.647000 65 156 0 0 1 0 0 IL20RA 53832 broad.mit.edu 37 6 137323365 137323365 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:137323365C>T ENST00000367748.1 - 6 1245 c.659G>A c.(658-660)gGa>gAa p.G220E IL20RA_ENST00000541547.1_Missense_Mutation_p.G282E|IL20RA_ENST00000316649.5_Missense_Mutation_p.G331E Q9UHF4 I20RA_HUMAN interleukin 20 receptor, alpha 331 Fibronectin type-III 2. integral to membrane receptor activity p.G331V(1) NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 27 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.000351)|OV - Ovarian serous cystadenocarcinoma(155;0.00459) ACTGCTTTTTCCCAGTAAACT 0.433000 57 32 0 0 1 0 0 FAHD2A 51011 broad.mit.edu 37 2 96078287 96078287 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:96078287C>T ENST00000233379.4 + 6 944 c.791C>T c.(790-792)tCc>tTc p.S264F FAHD2A_ENST00000447036.1_Missense_Mutation_p.S264F NM_016044.2 NP_057128.2 Q96GK7 FAH2A_HUMAN fumarylacetoacetate hydrolase domain containing 2A 264 hydrolase activity|metal ion binding breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(3)|ovary(1) 8 GCCTGGGTCTCCCAGTGAGTG 0.582000 45 79 0 0 1 0 0 IL18RAP 8807 broad.mit.edu 37 2 103040794 103040794 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:103040794C>T ENST00000264260.2 + 5 1088 c.499C>T c.(499-501)Ctt>Ttt p.L167F IL18RAP_ENST00000409369.1_Missense_Mutation_p.L25F NM_003853.2 NP_003844.1 O95256 I18RA_HUMAN interleukin 18 receptor accessory protein 167 Ig-like C2-type 1. cell surface receptor linked signaling pathway|inflammatory response|innate immune response integral to membrane transmembrane receptor activity autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4) 37 agacctacttcttgggagcac 0.458000 40 75 0 0 1 0 0 TRPM4 54795 broad.mit.edu 37 19 49684710 49684710 + Nonsense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:49684710C>T ENST00000252826.5 + 10 1381 c.1255C>T c.(1255-1257)Caa>Taa p.Q419* TRPM4_ENST00000601347.1_Intron|TRPM4_ENST00000427978.2_Nonsense_Mutation_p.Q419*|TRPM4_ENST00000355712.5_Intron NM_017636.3 NP_060106.2 Q8TD43 TRPM4_HUMAN transient receptor potential cation channel, subfamily M, member 4 419 dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane ATP binding|calcium activated cation channel activity|calmodulin binding breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2) 49 all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15) all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751) GGGGGACATCCAATGGCGGGT 0.552000 11 78 0 0 1 0 0 TP63 8626 broad.mit.edu 37 3 189604275 189604275 + Missense_Mutation SNP T T C TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:189604275T>C ENST00000264731.3 + 11 1531 c.1442T>C c.(1441-1443)cTt>cCt p.L481P TP63_ENST00000392460.3_Missense_Mutation_p.L481P|TP63_ENST00000449992.1_Missense_Mutation_p.L302P|TP63_ENST00000456148.1_Missense_Mutation_p.L383P|TP63_ENST00000392463.2_Missense_Mutation_p.L387P|TP63_ENST00000382063.4_Missense_Mutation_p.L396P|TP63_ENST00000320472.5_Missense_Mutation_p.L481P|TP63_ENST00000440651.2_Missense_Mutation_p.L477P|TP63_ENST00000392461.3_Missense_Mutation_p.L387P|TP63_ENST00000354600.5_Missense_Mutation_p.L387P NM_001114978.1|NM_003722.4 NP_001108450.1|NP_003713.3 Q9H3D4 P63_HUMAN tumor protein p63 481 anti-apoptosis|cellular response to UV|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6) 61 all_cancers(143;3.35e-10)|Ovarian(172;0.0925) Lung(62;3.33e-05) GBM - Glioblastoma multiforme(93;0.0227) GTGAGCCAGCTTATCAACCCT 0.498000 HNSCC(45;0.13) 33 89 0 0 1 0 0 DDX46 9879 broad.mit.edu 37 5 134113296 134113296 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:134113296G>A ENST00000452510.2 + 6 804 c.646G>A c.(646-648)Gag>Aag p.E216K DDX46_ENST00000354283.4_Missense_Mutation_p.E216K NM_014829.2 NP_055644.2 Q7L014 DDX46_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 46 216 mRNA processing|RNA splicing Cajal body|nuclear speck ATP binding|ATP-dependent helicase activity|RNA binding NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 30 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) AGCTGAAAAGGAGGGAAATGA 0.353000 41 83 0 0 1 0 0 ACTA2 59 broad.mit.edu 37 10 90699426 90699426 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:90699426C>T ENST00000458208.1 - 7 1120 c.646G>A c.(646-648)Gag>Aag p.E216K ACTA2-AS1_ENST00000596007.1_RNA|ACTA2-AS1_ENST00000437930.3_RNA|ACTA2_ENST00000224784.6_Missense_Mutation_p.E216K|STAMBPL1_ENST00000371927.3_Intron NM_001141945.1 NP_001135417.1 P62736 ACTA_HUMAN actin, alpha 2, smooth muscle, aorta 216 response to virus cytosol ATP binding breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|skin(1)|urinary_tract(2) 17 Colorectal(252;0.0161) Colorectal(12;0.000123)|COAD - Colon adenocarcinoma(12;0.00018) CACAGTTTCTCCTTGATGTCC 0.493000 20 44 0 0 1 0 0 KRT10 3858 broad.mit.edu 37 17 38978267 38978267 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:38978267C>T ENST00000269576.5 - 1 580 c.571G>A c.(571-573)Ggg>Agg p.G191R TMEM99_ENST00000496847.1_Intron|TMEM99_ENST00000301665.3_Intron NM_000421.3 NP_000412.3 P13645 K1C10_HUMAN keratin 10 191 Gly-rich.|Linker 1.|Rod. epidermis development protein binding|structural constituent of epidermis NS(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1) 11 Breast(137;0.000301) CGAGGCTCCCCCTGATGTGAG 0.423000 79 191 0 0 1 0 0 PAK3 5063 broad.mit.edu 37 X 110416246 110416246 + Splice_Site SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chrX:110416246G>A ENST00000519681.1 + 12 1272 c.829_splice c.e12-1 p.R277_splice PAK3_ENST00000518291.1_Splice_Site_p.R292_splice|PAK3_ENST00000425146.1_Splice_Site_p.R256_splice|PAK3_ENST00000360648.4_Splice_Site_p.R292_splice|PAK3_ENST00000262836.4_Splice_Site_p.R271_splice|PAK3_ENST00000446737.1_Splice_Site_p.R256_splice|PAK3_ENST00000417227.1_Splice_Site_p.R277_splice|PAK3_ENST00000372007.4_Splice_Site_p.R256_splice|PAK3_ENST00000372010.1_Splice_Site_p.R271_splice O75914 PAK3_HUMAN p21 protein (Cdc42/Rac)-activated kinase 3 271 Linker. multicellular organismal development ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 41 CATCTCTTAGGAAGCATTGTG 0.348000 TSP Lung(19;0.15) 13 4 0 0 1 0 0 ZEB1 6935 broad.mit.edu 37 10 31815797 31815797 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:31815797G>A ENST00000446923.2 + 9 3323 c.2932G>A c.(2932-2934)Gac>Aac p.D978N ZEB1_ENST00000320985.10_Missense_Mutation_p.D994N|ZEB1_ENST00000560721.2_Missense_Mutation_p.D974N|ZEB1_ENST00000361642.5_Missense_Mutation_p.D995N|ZEB1_ENST00000542815.3_Missense_Mutation_p.D927N NM_001128128.2|NM_001174094.1 NP_001121600.1|NP_001167565.1 P37275 ZEB1_HUMAN zinc finger E-box binding homeobox 1 994 cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation cytoplasm E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4) 77 Prostate(175;0.0156) GGAAGAACGTGACAGCACAGA 0.532000 20 43 0 0 1 0 0 SPAG17 200162 broad.mit.edu 37 1 118514544 118514544 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:118514544C>T ENST00000336338.5 - 45 6333 c.6268G>A c.(6268-6270)Gaa>Aaa p.E2090K SPAG17_ENST00000492438.1_5'UTR NM_206996.2 NP_996879.1 Q6Q759 SPG17_HUMAN sperm associated antigen 17 2090 cilium|flagellar axoneme|microtubule NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1) 123 Esophageal squamous(2;0.0106) all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01) Lung(183;0.0858) GTATGTCCTTCCTTAAGCACT 0.468000 31 57 0 0 1 0 0 CNTNAP2 26047 broad.mit.edu 37 7 147259234 147259234 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:147259234C>T ENST00000361727.3 + 12 2298 c.1782C>T c.(1780-1782)atC>atT p.I594I NM_014141.5 NP_054860.1 Q9UHC6 CNTP2_HUMAN contactin associated protein-like 2 594 Fibrinogen C-terminal. behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex receptor binding NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3) 188 Melanoma(164;0.153) all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794) OV - Ovarian serous cystadenocarcinoma(82;0.0319) TTCTAGCTATCTACGAGCCTT 0.448000 HNSCC(39;0.1) 33 126 0 0 1 0 0 DLG2 1740 broad.mit.edu 37 11 83676436 83676436 + Missense_Mutation SNP A A G TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:83676436A>G ENST00000398309.2 - 8 1287 c.817T>C c.(817-819)Tat>Cat p.Y273H DLG2_ENST00000280241.8_Missense_Mutation_p.Y312H|DLG2_ENST00000398301.2_Missense_Mutation_p.Y312H|DLG2_ENST00000418306.2_Missense_Mutation_p.Y222H|DLG2_ENST00000543673.1_Missense_Mutation_p.Y378H|DLG2_ENST00000531015.1_Missense_Mutation_p.Y240H|DLG2_ENST00000537455.1_Missense_Mutation_p.Y27H|DLG2_ENST00000524982.1_Missense_Mutation_p.Y273H|DLG2_ENST00000330014.6_Missense_Mutation_p.Y212H|DLG2_ENST00000376104.2_Missense_Mutation_p.Y378H|DLG2_ENST00000376106.3_5'UTR|DLG2_ENST00000532653.1_Missense_Mutation_p.Y273H NM_001364.3 NP_001355.2 Q15700 DLG2_HUMAN discs, large homolog 2 (Drosophila) 273 PDZ 2. cell junction|postsynaptic density|postsynaptic membrane guanylate kinase activity|protein binding breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 71 all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036) ACTTTTAAATAAACTACCTCT 0.353000 8 201 0 0 1 0 0 FAM46A 55603 broad.mit.edu 37 6 82459782 82459782 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:82459782G>A ENST00000369754.3 - 3 1328 c.1016C>T c.(1015-1017)tCc>tTc p.S339F FAM46A_ENST00000369756.3_Missense_Mutation_p.S401F|FAM46A_ENST00000320172.6_Missense_Mutation_p.S320F Q96IP4 FA46A_HUMAN family with sequence similarity 46, member A 320 endometrium(2)|large_intestine(3)|lung(5)|skin(1)|urinary_tract(1) 12 all_cancers(76;6.74e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000282)|all_epithelial(107;0.0104) BRCA - Breast invasive adenocarcinoma(397;0.0428) GAAAAACCTGGAACACATATA 0.488000 22 56 0 0 1 0 0 NR2F1 7025 broad.mit.edu 37 5 92923897 92923897 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:92923897C>T ENST00000327111.3 + 2 2425 c.738C>T c.(736-738)acC>acT p.T246T NM_005654.4 NP_005645.1 P10589 COT1_HUMAN nuclear receptor subfamily 2, group F, member 1 246 negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding NS(1)|breast(1)|endometrium(4)|large_intestine(6)|lung(2)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2) 21 all_cancers(142;1.62e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19) UCEC - Uterine corpus endometrioid carcinoma (5;0.0416)|all cancers(79;9.57e-18) TGCAGATCACCGACCAGGTGT 0.662000 47 89 0 0 1 0 0 MAP3K9 4293 broad.mit.edu 37 14 71199302 71199302 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr14:71199302G>A ENST00000554752.2 - 11 2783 c.2784C>T c.(2782-2784)gcC>gcT p.A928A MAP3K9_ENST00000555993.2_Silent_p.A942A|MAP3K9_ENST00000553414.1_Silent_p.A661A|MAP3K9_ENST00000381250.4_Silent_p.A905A|MAP3K9_ENST00000554146.1_Silent_p.A656A P80192 M3K9_HUMAN mitogen-activated protein kinase kinase kinase 9 928 Pro-rich. activation of JUN kinase activity|protein autophosphorylation ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2) 46 all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08) GGCTCCTGCTGGCTAGGAGAG 0.597000 42 87 0 0 1 0 0 KIAA1462 57608 broad.mit.edu 37 10 30318556 30318556 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:30318556C>T ENST00000375377.1 - 3 622 c.521G>A c.(520-522)cGa>cAa p.R174Q NM_020848.2 NP_065899.1 Q9P266 K1462_HUMAN KIAA1462 174 breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1) 75 ACCTGACATTCGCAATTCTTC 0.547000 126 252 0 0 1 0 0 HCN4 10021 broad.mit.edu 37 15 73616491 73616491 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr15:73616491C>T ENST00000261917.3 - 7 3075 c.2082G>A c.(2080-2082)gaG>gaA p.E694E NM_005477.2 NP_005468.1 Q9Y3Q4 HCN4_HUMAN hyperpolarization activated cyclic nucleotide-gated potassium channel 4 694 blood circulation|muscle contraction integral to membrane cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 55 COAD - Colon adenocarcinoma(1;0.142) TGGGGTACTCCTCCAGCACCT 0.687000 38 139 0 0 1 0 0 LATS2 26524 broad.mit.edu 37 13 21563248 21563248 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr13:21563248G>A ENST00000382592.4 - 4 1076 c.671C>T c.(670-672)cCc>cTc p.P224L LATS2_ENST00000472754.1_5'UTR|LATS2_ENST00000542899.1_Missense_Mutation_p.P224L NM_014572.2 NP_055387.2 Q9NRM7 LATS2_HUMAN large tumor suppressor kinase 2 224 cell division|G1/S transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|intracellular protein kinase cascade|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity microtubule organizing center|nucleus|spindle pole ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity breast(4)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(2) 45 all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244) all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104) CTGGTGGCCGGGCCCGTGGGG 0.726000 5 37 0 0 1 0 0 HAUS5 23354 broad.mit.edu 37 19 36106232 36106232 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:36106232C>T ENST00000203166.5 + 6 454 c.429C>T c.(427-429)ctC>ctT p.L143L HAUS5_ENST00000379045.2_Silent_p.L143L NM_015302.1 NP_056117.1 O94927 HAUS5_HUMAN HAUS augmin-like complex, subunit 5 143 cell division|centrosome organization|mitosis|spindle assembly centrosome|HAUS complex|microtubule|spindle NS(1)|breast(2)|cervix(3)|endometrium(1)|large_intestine(2)|lung(5)|skin(2) 16 AGCATACGCTCCGAGATCCCA 0.652000 8 23 0 0 1 0 0 CXXC4 80319 broad.mit.edu 37 4 105393493 105393493 + Nonsense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:105393493G>A ENST00000394767.2 - 3 1540 c.1090C>T c.(1090-1092)Cga>Tga p.R364* CXXC4_ENST00000426831.1_Nonsense_Mutation_p.R195*|CXXC4_ENST00000466963.1_5'UTR NM_025212.2 NP_079488.2 Q9H2H0 CXXC4_HUMAN CXXC finger protein 4 195 negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway|zygotic specification of dorsal/ventral axis DNA binding|PDZ domain binding|zinc ion binding p.R195R(1) kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 11 OV - Ovarian serous cystadenocarcinoma(123;3.05e-08) AAGAACCATCGGAATGCTTCA 0.348000 45 125 0 0 1 0 0 LIN37 55957 broad.mit.edu 37 19 36243354 36243354 + Missense_Mutation SNP G G C TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:36243354G>C ENST00000301159.9 + 3 494 c.130G>C c.(130-132)Gct>Cct p.A44P AC002398.9_ENST00000591613.2_3'UTR|AC002398.11_ENST00000591091.1_RNA NM_019104.2 NP_061977.1 Q96GY3 LIN37_HUMAN lin-37 homolog (C. elegans) 44 protein binding large_intestine(1)|lung(5) 6 all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) GGATGAGGAAGCTGGGAAAAC 0.517000 6 38 0 0 1 0 0 CPNE4 131034 broad.mit.edu 37 3 131283104 131283104 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:131283104C>T ENST00000512055.1 - 15 3143 c.1017G>A c.(1015-1017)ctG>ctA p.L339L CPNE4_ENST00000512332.1_Silent_p.L357L|CPNE4_ENST00000511604.1_Silent_p.L339L|CPNE4_ENST00000502818.1_Silent_p.L357L|CPNE4_ENST00000429747.1_Silent_p.L339L Q96A23 CPNE4_HUMAN copine IV 339 VWFA. central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|liver(1)|lung(16)|prostate(2)|skin(3)|upper_aerodigestive_tract(3) 39 CCAAAGCTTTCAGATACTCAT 0.478000 44 88 0 0 1 0 0 LRRC48 83450 broad.mit.edu 37 17 17880980 17880980 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:17880980G>A ENST00000313838.8 + 4 447 c.68G>A c.(67-69)gGg>gAg p.G23E LRRC48_ENST00000399187.1_Missense_Mutation_p.G23E|LRRC48_ENST00000411504.2_Missense_Mutation_p.G23E|LRRC48_ENST00000584166.1_Missense_Mutation_p.G23E|LRRC48_ENST00000399182.1_Missense_Mutation_p.G23E NM_001130090.1 NP_001123562.1 Q9H069 LRC48_HUMAN leucine rich repeat containing 48 23 cytoplasm breast(1)|large_intestine(2)|lung(2)|pancreas(1)|urinary_tract(1) 7 all_neural(463;0.228) CTGGCCGTCGGGGACCAGGGC 0.597000 29 63 0 0 1 0 0 CD8B 926 broad.mit.edu 37 2 87085363 87085363 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:87085363C>T ENST00000390655.6 - 2 278 c.220G>A c.(220-222)Gat>Aat p.D74N CD8B_ENST00000349455.3_Missense_Mutation_p.D74N|CD8B_ENST00000393761.2_Missense_Mutation_p.D74N|CD8B_ENST00000431506.2_Intron|CD8B_ENST00000331469.2_Missense_Mutation_p.D74N|CD8B_ENST00000393759.2_Missense_Mutation_p.D74N NM_004931.4 NP_004922.1 P10966 CD8B_HUMAN CD8b molecule 74 Ig-like V-type. immune response|regulation of defense response to virus by virus|regulation of immune response|T cell activation|transmembrane receptor protein tyrosine kinase signaling pathway|viral reproduction early endosome|extracellular region|integral to plasma membrane|T cell receptor complex coreceptor activity|MHC class I protein binding NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1) 13 TTTGCGGAATCCCAGAGGGCC 0.542000 43 82 0 0 1 0 0 FYB 2533 broad.mit.edu 37 5 39141230 39141230 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:39141230C>T ENST00000351578.6 - 4 1496 c.1306G>A c.(1306-1308)Gaa>Aaa p.E436K FYB_ENST00000505428.1_Missense_Mutation_p.E436K|FYB_ENST00000512982.1_Missense_Mutation_p.E436K|FYB_ENST00000515010.1_Missense_Mutation_p.E436K|FYB_ENST00000540520.1_Missense_Mutation_p.E446K NM_199335.3 NP_955367.1 O15117 FYB_HUMAN FYN binding protein 436 Interaction with SKAP1. cell junction assembly|immune response|intracellular protein kinase cascade|NLS-bearing substrate import into nucleus|protein phosphorylation|T cell receptor signaling pathway cytosol|nucleus protein binding endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1) 45 all_lung(31;0.000343) Epithelial(62;0.235) TGATTGTCTTCATTGACAGGG 0.343000 4 22 0 0 1 0 0 KCNJ16 3773 broad.mit.edu 37 17 68129421 68129421 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:68129421G>A ENST00000585558.1 + 4 1686 c.1298G>A c.(1297-1299)aGg>aAg p.R433K KCNJ16_ENST00000283936.1_Missense_Mutation_p.R398K|KCNJ16_ENST00000392670.1_Missense_Mutation_p.R398K|KCNJ16_ENST00000586462.1_Missense_Mutation_p.R437K|KCNJ16_ENST00000392671.1_Missense_Mutation_p.R398K|KCNJ16_ENST00000589377.1_Missense_Mutation_p.R398K Q9NPI9 IRK16_HUMAN potassium inwardly-rectifying channel, subfamily J, member 16 398 synaptic transmission voltage-gated potassium channel complex inward rectifier potassium channel activity breast(3)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 32 Breast(10;2.96e-09) CATGAATATAGGGAAACACCT 0.453000 27 112 0 0 1 0 0 MOGAT3 346606 broad.mit.edu 37 7 100839558 100839558 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:100839558C>T ENST00000223114.4 - 6 947 c.781G>A c.(781-783)Ggc>Agc p.G261S MOGAT3_ENST00000440203.2_Missense_Mutation_p.G261S|MOGAT3_ENST00000379423.3_Intron NM_178176.2 NP_835470.1 Q86VF5 MOGT3_HUMAN monoacylglycerol O-acyltransferase 3 261 glycerol metabolic process|lipid biosynthetic process endoplasmic reticulum membrane|integral to membrane 2-acylglycerol O-acyltransferase activity|diacylglycerol O-acyltransferase activity breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(10)|ovary(3) 22 Lung NSC(181;0.168)|all_lung(186;0.215) GGAGAGAAGCCCATGAGCTTC 0.577000 8 38 0 0 1 0 0 DMBT1 1755 broad.mit.edu 37 10 124358508 124358508 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:124358508G>A ENST00000338354.3 + 26 3281 c.3175G>A c.(3175-3177)Gat>Aat p.D1059N DMBT1_ENST00000368955.3_Missense_Mutation_p.D1049N|DMBT1_ENST00000344338.3_Missense_Mutation_p.D1049N|DMBT1_ENST00000359586.6_Intron|DMBT1_ENST00000368909.3_Missense_Mutation_p.D1059N|DMBT1_ENST00000330163.4_Missense_Mutation_p.D560N|DMBT1_ENST00000368956.2_Missense_Mutation_p.D560N Q9UGM3 DMBT1_HUMAN deleted in malignant brain tumors 1 1059 SRCR 8. epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3) 72 all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238) TGTCCTGGATGATGTGCGCTG 0.592000 11 243 0 0 1 0 0 OSBPL9 114883 broad.mit.edu 37 1 52226432 52226432 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:52226432C>T ENST00000371710.3 + 10 889 c.707C>T c.(706-708)tCc>tTc p.S236F OSBPL9_ENST00000361556.5_Missense_Mutation_p.S108F|OSBPL9_ENST00000473207.2_3'UTR|OSBPL9_ENST00000447887.1_Missense_Mutation_p.S228F|OSBPL9_ENST00000530544.1_Missense_Mutation_p.S137F|OSBPL9_ENST00000453295.1_Missense_Mutation_p.S201F|OSBPL9_ENST00000435686.2_Missense_Mutation_p.S53F|OSBPL9_ENST00000462759.1_Missense_Mutation_p.S40F|OSBPL9_ENST00000531828.1_Missense_Mutation_p.S53F|OSBPL9_ENST00000371714.1_Missense_Mutation_p.S205F|OSBPL9_ENST00000486942.1_Missense_Mutation_p.S40F|OSBPL9_ENST00000337809.4_Missense_Mutation_p.S223F|OSBPL9_ENST00000428468.1_Missense_Mutation_p.S218F NM_024586.5|NM_148906.2 NP_078862.4|NP_683704.2 Q96SU4 OSBL9_HUMAN oxysterol binding protein-like 9 218 lipid transport lipid binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|pancreas(1)|prostate(3)|skin(1) 18 ACAATGCCTTCCCAGACTGTG 0.348000 37 74 0 0 1 0 0 VWA3B 200403 broad.mit.edu 37 2 98737774 98737774 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:98737774G>A ENST00000477737.1 + 5 759 c.555G>A c.(553-555)gaG>gaA p.E185E VWA3B_ENST00000435344.1_Silent_p.E185E|VWA3B_ENST00000451075.2_Silent_p.E35E NM_144992.4 NP_659429.4 Q502W6 VWA3B_HUMAN von Willebrand factor A domain containing 3B 185 NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 70 TTTCTCAAGAGCCTGTGAAGT 0.527000 21 41 0 0 1 0 0 KCNT1 57582 broad.mit.edu 37 9 138657488 138657488 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:138657488C>T ENST00000298480.5 + 13 1293 c.1219C>T c.(1219-1221)Ctg>Ttg p.L407L KCNT1_ENST00000371757.2_Silent_p.L407L|KCNT1_ENST00000263604.3_Silent_p.L388L|KCNT1_ENST00000486577.2_Silent_p.L368L|KCNT1_ENST00000488444.2_Silent_p.L388L|KCNT1_ENST00000487664.1_Silent_p.L362L|KCNT1_ENST00000490355.2_Silent_p.L388L|KCNT1_ENST00000491806.2_Silent_p.L374L B7ZVY4 B7ZVY4_HUMAN potassium channel, subfamily T, member 1 407 membrane binding|calcium-activated potassium channel activity breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 50 Myeloproliferative disorder(178;0.0821) OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05) CGTGGTCATCCTGTGCCCCAC 0.647000 13 26 0 0 1 0 0 TMEM260 54916 broad.mit.edu 37 14 57085349 57085349 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr14:57085349C>T ENST00000261556.6 + 10 1216 c.1094C>T c.(1093-1095)gCc>gTc p.A365V TMEM260_ENST00000553335.1_3'UTR|TMEM260_ENST00000536419.1_5'UTR|TMEM260_ENST00000538838.1_Missense_Mutation_p.A365V NM_017799.3 NP_060269.3 transmembrane protein 260 GCAGTAGTGGCCGTCCTCGCT 0.493000 25 64 0 0 1 0 0 PASD1 139135 broad.mit.edu 37 X 150832600 150832600 + Nonsense_Mutation SNP T T A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chrX:150832600T>A ENST00000370357.4 + 11 1096 c.851T>A c.(850-852)tTg>tAg p.L284* NM_173493.2 NP_775764.2 Q8IV76 PASD1_HUMAN PAS domain containing 1 284 nucleus signal transducer activity breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 48 Acute lymphoblastic leukemia(192;6.56e-05) GCCTTATCCTTGCAAGACTTT 0.483000 8 45 0 0 1 0 0 BCL9 607 broad.mit.edu 37 1 147096402 147096402 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:147096402C>T ENST00000234739.3 + 10 4663 c.3923C>T c.(3922-3924)cCa>cTa p.P1308L NM_004326.2 NP_004317.2 O00512 BCL9_HUMAN B-cell CLL/lymphoma 9 1308 Pro-rich. Wnt receptor signaling pathway nucleus protein binding breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 7 all_hematologic(923;0.115) GGTACAGCTCCATCCATGCCA 0.567000 T """IGH@, IGL@""" B-ALL 8 112 0 0 1 0 0 ATP2B2 491 broad.mit.edu 37 3 10401714 10401714 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:10401714C>T ENST00000397077.1 - 12 2193 c.1618G>A c.(1618-1620)Gag>Aag p.E540K ATP2B2_ENST00000352432.4_Missense_Mutation_p.E585K|ATP2B2_ENST00000343816.4_Missense_Mutation_p.E571K|ATP2B2_ENST00000383800.4_Missense_Mutation_p.E540K|ATP2B2_ENST00000360273.2_Missense_Mutation_p.E585K Q01814 AT2B2_HUMAN ATPase, Ca++ transporting, plasma membrane 2 585 ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation cytosol|integral to membrane|plasma membrane ATP binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2) 74 CGCACGGGCTCGTAGTCCTGC 0.617000 36 102 0 0 1 0 0 CYP2C19 1557 broad.mit.edu 37 10 96535292 96535292 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:96535292C>T ENST00000371321.3 + 3 559 c.477C>T c.(475-477)acC>acT p.T159T CYP2C19_ENST00000464755.1_3'UTR NM_000769.1 NP_000760.1 P33261 CP2CJ_HUMAN cytochrome P450, family 2, subfamily C, polypeptide 19 159 exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome (S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 43 Colorectal(252;0.09) all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838) Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582) TGAGAAAAACCAAGGGTGGGT 0.498000 65 116 0 0 1 0 0 PLCL2 23228 broad.mit.edu 37 3 17053356 17053356 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:17053356G>A ENST00000418129.2 + 2 2605 c.2140G>A c.(2140-2142)Gaa>Aaa p.E714K PLCL2_ENST00000432376.1_Missense_Mutation_p.E714K|PLCL2_ENST00000396755.2_Missense_Mutation_p.E714K NM_001144382.1 NP_001137854.1 Q9UPR0 PLCL2_HUMAN phospholipase C-like 2 840 PI-PLC Y-box. intracellular signal transduction|lipid metabolic process cytoplasm calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1) 43 CATTGGGGATGAATTCATCGG 0.483000 57 132 0 0 1 0 0 TEKT3 64518 broad.mit.edu 37 17 15207273 15207273 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:15207273G>A ENST00000395930.1 - 9 1639 c.1453C>T c.(1453-1455)Cgg>Tgg p.R485W TEKT3_ENST00000462175.1_5'UTR|TEKT3_ENST00000338696.2_Missense_Mutation_p.R485W NM_031898.2 NP_114104.1 Q9BXF9 TEKT3_HUMAN tektin 3 485 microtubule cytoskeleton organization cilium axoneme|flagellar axoneme|microtubule endometrium(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1) 23 UCEC - Uterine corpus endometrioid carcinoma (92;0.0877) CCGACCAGCCGGAGGGTGTTG 0.537000 8 96 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9075309 9075309 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:9075309C>T ENST00000397910.4 - 3 12340 c.12137G>A c.(12136-12138)gGg>gAg p.G4046E NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 4048 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 TGTTCTAGGCCCCTTGGTGAT 0.502000 47 134 0 0 1 0 0 OR4B1 119765 broad.mit.edu 37 11 48239072 48239072 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:48239072C>T ENST00000309562.2 + 1 729 c.711C>T c.(709-711)acC>acT p.T237T NM_001005470.1 NP_001005470.1 Q8NGF8 OR4B1_HUMAN olfactory receptor, family 4, subfamily B, member 1 237 T -> N (in dbSNP:rs12292056). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 28 CCCTCTCCACCTGTGCTTCTC 0.468000 32 59 0 0 1 0 0 TNS4 84951 broad.mit.edu 37 17 38652319 38652319 + Missense_Mutation SNP G G A rs143645356 TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:38652319G>A ENST00000254051.6 - 2 517 c.359C>T c.(358-360)cCc>cTc p.P120L NM_032865.5 NP_116254.4 Q8IZW8 TENS4_HUMAN tensin 4 120 apoptosis|protein localization cytoplasm|cytoskeleton|focal adhesion actin binding NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(1) 30 Breast(137;0.000496) STAD - Stomach adenocarcinoma(5;5.91e-05) AGTCCCTGGGGGAAGCAGCTG 0.572000 62 134 0 0 1 0 0 SCN11A 11280 broad.mit.edu 37 3 38946806 38946806 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:38946806G>A ENST00000302328.3 - 11 1678 c.1480C>T c.(1480-1482)Ctc>Ttc p.L494F SCN11A_ENST00000444237.2_Missense_Mutation_p.L494F|SCN11A_ENST00000456224.3_Missense_Mutation_p.L494F|SCN11A_ENST00000450244.1_Missense_Mutation_p.L494F NM_014139.2 NP_054858.2 Q9UI33 SCNBA_HUMAN sodium channel, voltage-gated, type XI, alpha subunit 494 response to drug voltage-gated sodium channel complex voltage-gated sodium channel activity NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3) 119 Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226) Cocaine(DB00907) TGCTCTAGGAGCTGTGGCTGT 0.473000 39 98 0 0 1 0 0 FOXP1 27086 broad.mit.edu 37 3 71050186 71050186 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:71050186C>T ENST00000318789.4 - 13 1524 c.999G>A c.(997-999)ctG>ctA p.L333L FOXP1_ENST00000491238.1_Silent_p.L335L|FOXP1_ENST00000468577.1_Silent_p.L333L|FOXP1_ENST00000493089.1_Silent_p.L333L|FOXP1_ENST00000484350.1_Silent_p.L257L|FOXP1_ENST00000475937.1_Silent_p.L333L|FOXP1_ENST00000498215.1_Silent_p.L333L NM_001244810.1|NM_001244813.1|NM_032682.5 NP_001231739.1|NP_001231742.1|NP_116071.2 Q9H334 FOXP1_HUMAN forkhead box P1 333 cardiac muscle cell differentiation|embryo development|immunoglobulin V(D)J recombination|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of immunoglobulin production|positive regulation of mesenchymal cell proliferation|pre-B cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|skeletal muscle tissue development|smooth muscle tissue development cytoplasm|transcription factor complex chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 31 Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209) BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05) TTCTATCGTCCAGCGCATGCT 0.353000 T PAX5 ALL 5 58 0 0 1 0 0 MACC1 346389 broad.mit.edu 37 7 20198276 20198276 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:20198276G>A ENST00000400331.5 - 5 2016 c.1708C>T c.(1708-1710)Ctt>Ttt p.L570F MACC1_ENST00000332878.4_Missense_Mutation_p.L570F|MACC1_ENST00000589011.1_Missense_Mutation_p.L570F NM_182762.3 NP_877439.3 Q6ZN28 MACC1_HUMAN metastasis associated in colon cancer 1 570 SH3. positive regulation of cell division|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus|plasma membrane growth factor activity endometrium(1)|kidney(1)|large_intestine(15)|lung(12)|ovary(2)|prostate(1)|skin(3)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(1) 39 AAATATTCAAGGAAGTAATCA 0.393000 59 141 0 0 1 0 0 XPO6 23214 broad.mit.edu 37 16 28167730 28167730 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr16:28167730G>A ENST00000304658.5 - 7 1262 c.762C>T c.(760-762)gcC>gcT p.A254A XPO6_ENST00000565698.1_Silent_p.A240A NM_015171.2 NP_055986.1 Q96QU8 XPO6_HUMAN exportin 6 254 protein export from nucleus protein binding|protein transporter activity breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 25 TGAAGAGATGGGCCAGGCACT 0.517000 34 93 0 0 1 0 0 AQP7 364 broad.mit.edu 37 9 33385718 33385718 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:33385718G>A ENST00000541274.1 - 5 726 c.277C>T c.(277-279)Cat>Tat p.H93Y AQP7_ENST00000537089.1_Silent_p.A132A|AQP7_ENST00000377425.4_Silent_p.A167A|AQP7_ENST00000539936.1_Silent_p.A224A O14520 AQP7_HUMAN aquaporin 7 0 excretion|generation of precursor metabolites and energy cell-cell junction|cytoplasm|integral to plasma membrane glycerol channel activity|water channel activity NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1) 17 LUSC - Lung squamous cell carcinoma(29;0.00788) GBM - Glioblastoma multiforme(74;0.191) ACGGGTTGATGGCATATCCTG 0.592000 62 141 0 0 1 0 0 MUC17 140453 broad.mit.edu 37 7 100681847 100681847 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:100681847G>A ENST00000306151.4 + 3 7214 c.7150G>A c.(7150-7152)Gat>Aat p.D2384N NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 2384 59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) AACTGCTGACGATACTAGCAT 0.498000 160 627 0 0 1 0 0 ZHX2 22882 broad.mit.edu 37 8 123965736 123965736 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:123965736G>A ENST00000314393.4 + 3 2821 c.1986G>A c.(1984-1986)gcG>gcA p.A662A NM_014943.3 NP_055758.1 Q9Y6X8 ZHX2_HUMAN zinc fingers and homeoboxes 2 662 cytoplasm|nucleus|plasma membrane protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1) 45 Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105) STAD - Stomach adenocarcinoma(47;0.00527) ACCAGTTAGCGGCCAAGACTG 0.532000 19 112 0 0 1 0 0 CCS 9973 broad.mit.edu 37 11 66361121 66361121 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:66361121C>T ENST00000533244.1 + 2 489 c.48C>T c.(46-48)ttC>ttT p.F16F CCS_ENST00000310190.4_5'UTR NM_005125.1 NP_005116.1 O14618 CCS_HUMAN copper chaperone for superoxide dismutase 16 HMA. intracellular copper ion transport|oxidation-reduction process|removal of superoxide radicals cytosol|mitochondrial inner membrane|nucleus|soluble fraction copper ion transmembrane transporter activity|protein binding|superoxide dismutase copper chaperone activity|zinc ion binding breast(2)|cervix(1)|large_intestine(2)|lung(3)|stomach(1) 9 AGTTGGAGTTCGCGGTGCAGA 0.567000 8 48 0 0 1 0 0 LYZL2 119180 broad.mit.edu 37 10 30918574 30918574 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:30918574C>T ENST00000375318.2 - 1 117 c.61G>A c.(61-63)Gac>Aac p.D21N NM_183058.2 NP_898881.2 Q7Z4W2 LYZL2_HUMAN lysozyme-like 2 0 cell wall macromolecule catabolic process extracellular region lysozyme activity NS(2)|central_nervous_system(1)|large_intestine(1)|lung(14)|prostate(1) 19 Prostate(175;0.151) TCAGTTGAGTCTGCGGAAGAA 0.522000 5 89 0 0 1 0 0 APOA4 337 broad.mit.edu 37 11 116691903 116691903 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:116691903C>T ENST00000357780.3 - 3 985 c.871G>A c.(871-873)Gag>Aag p.E291K NM_000482.3 NP_000473.2 apolipoprotein A-IV cervix(1)|endometrium(2)|lung(10)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 20 all_hematologic(175;0.0487) Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0564)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.62e-05)|all cancers(92;0.000165)|OV - Ovarian serous cystadenocarcinoma(223;0.148) CCACCCAGCTCTGCCAGTGAC 0.662000 8 66 0 0 1 0 0 IP6K3 117283 broad.mit.edu 37 6 33694534 33694534 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:33694534G>A ENST00000451316.1 - 5 1098 c.563C>T c.(562-564)tCc>tTc p.S188F IP6K3_ENST00000293756.4_Missense_Mutation_p.S188F NM_001142883.1 NP_001136355.1 Q96PC2 IP6K3_HUMAN inositol hexakisphosphate kinase 3 188 inositol phosphate biosynthetic process|phosphatidylinositol metabolic process|protein phosphorylation cytoplasm ATP binding|inositol hexakisphosphate 5-kinase activity|inositol hexakisphosphate 6-kinase activity|inositol trisphosphate 3-kinase activity skin(1) 1 TGGGTACTCGGAGCACAGGCG 0.617000 26 121 0 0 1 0 0 WDR49 151790 broad.mit.edu 37 3 167319988 167319988 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:167319988C>T ENST00000308378.3 - 3 484 c.179G>A c.(178-180)gGc>gAc p.G60D WDR49_ENST00000479765.1_Missense_Mutation_p.G401D|WDR49_ENST00000453925.2_Missense_Mutation_p.G113D NM_178824.3 NP_849146.1 Q8IV35 WDR49_HUMAN WD repeat domain 49 60 breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 50 GGCTGAGTGGCCCCAAAGGAC 0.373000 46 50 0 0 1 0 0 ADAM21P1 145241 broad.mit.edu 37 14 70713532 70713532 + RNA SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr14:70713532C>T ENST00000530196.1 - 0 986 NR_003951.1 TGATTTGTTTCCGTTGAGAGA 0.353000 34 67 0 0 1 0 0 OR5B12 390191 broad.mit.edu 37 11 58206830 58206830 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:58206830G>A ENST00000302572.2 - 1 816 c.795C>T c.(793-795)ttC>ttT p.F265F NM_001004733.2 NP_001004733.1 Q96R08 OR5BC_HUMAN olfactory receptor, family 5, subfamily B, member 12 265 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(6)|liver(1)|lung(28)|ovary(1)|prostate(3)|skin(1) 40 Esophageal squamous(5;0.0027) Breast(21;0.0778) CTGTGCCCATGAAATGGCTGG 0.453000 22 50 0 0 1 0 0 SLC26A10 65012 broad.mit.edu 37 12 58018649 58018649 + Splice_Site SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:58018649C>T ENST00000379218.2 + 11 1646 c.1334_splice c.e11-1 p.S445_splice SLC26A10_ENST00000320442.4_Splice_Site_p.L410_splice|SLC26A10_ENST00000490243.1_3'UTR Q8NG04 S2610_HUMAN solute carrier family 26, member 10 0 STAS. integral to membrane antiporter activity NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7) 19 Melanoma(17;0.122) GACCTCTTAGCTCCTCCAGGT 0.582000 64 133 0 0 1 0 0 ATP6V0A4 50617 broad.mit.edu 37 7 138424325 138424325 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:138424325C>T ENST00000310018.2 - 15 1814 c.1532G>A c.(1531-1533)gGa>gAa p.G511E ATP6V0A4_ENST00000393054.1_Missense_Mutation_p.G511E|ATP6V0A4_ENST00000353492.4_Missense_Mutation_p.G511E NM_020632.2|NM_130840.2 NP_065683.2|NP_570855.2 Q9HBG4 VPP4_HUMAN ATPase, H+ transporting, lysosomal V0 subunit a4 511 cellular iron ion homeostasis|excretion|insulin receptor signaling pathway|ossification|regulation of pH|sensory perception of sound|transferrin transport apical plasma membrane|brush border membrane|endosome membrane|integral to membrane|proton-transporting two-sector ATPase complex, proton-transporting domain ATPase binding|hydrogen ion transmembrane transporter activity NS(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 36 AAAATACACTCCTGGTATGGC 0.418000 4 121 0 0 1 0 0 NCOA6 23054 broad.mit.edu 37 20 33345246 33345246 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr20:33345246G>A ENST00000374796.2 - 8 3875 c.1305C>T c.(1303-1305)ttC>ttT p.F435F NCOA6_ENST00000359003.2_Silent_p.F435F Q14686 NCOA6_HUMAN nuclear receptor coactivator 6 435 CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region. brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter transcription factor complex chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1) 107 ATCCCTGCTGGAAGGAGGAGG 0.582000 33 62 0 0 1 0 0 EML5 161436 broad.mit.edu 37 14 89093993 89093993 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr14:89093993C>T ENST00000554922.1 - 34 4776 c.4528G>A c.(4528-4530)Gaa>Aaa p.E1510K EML5_ENST00000352093.5_Missense_Mutation_p.E1464K|EML5_ENST00000380664.5_Missense_Mutation_p.E1502K NM_183387.2 NP_899243.1 Q05BV3 EMAL5_HUMAN echinoderm microtubule associated protein like 5 1502 cytoplasm|microtubule breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 50 ATCCTACCTTCCTGCCATCTC 0.363000 5 45 0 0 1 0 0 PCLO 27445 broad.mit.edu 37 7 82545664 82545664 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:82545664G>A ENST00000423517.2 - 7 11975 c.11638C>T c.(11638-11640)Cct>Tct p.P3880S PCLO_ENST00000333891.8_Missense_Mutation_p.P3880S|PCLO_ENST00000437081.1_Missense_Mutation_p.P600S NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 3811 Gln-rich. cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 CTTGTCGGAGGAACTAGTTGA 0.458000 167 515 0 0 1 0 0 KARS 3735 broad.mit.edu 37 16 75668164 75668164 + Silent SNP G G A rs146955132 TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr16:75668164G>A ENST00000319410.5 - 8 1027 c.906C>T c.(904-906)atC>atT p.I302I KARS_ENST00000568378.1_Intron|KARS_ENST00000302445.3_Silent_p.I274I NM_001130089.1 NP_001123561.1 Q15046 SYK_HUMAN lysyl-tRNA synthetase 274 interspecies interaction between organisms|lysyl-tRNA aminoacylation|tRNA processing cytosol|extracellular region|mitochondrial matrix|nucleus|plasma membrane|soluble fraction ATP binding|lysine-tRNA ligase activity|metal ion binding|tRNA binding kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1) 18 L-Lysine(DB00123) CTCCCCCTGGGATGATGTTCA 0.448000 44 31 0 0 1 0 0 NOVA1 4857 broad.mit.edu 37 14 26918101 26918101 + Silent SNP A A G TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr14:26918101A>G ENST00000539517.2 - 5 905 c.588T>C c.(586-588)gcT>gcC p.A196A NOVA1_ENST00000267422.7_Silent_p.A74A|NOVA1_ENST00000465357.2_Silent_p.A172A NM_002515.2 NP_002506.2 P51513 NOVA1_HUMAN neuro-oncological ventral antigen 1 199 KH 2. locomotory behavior|RNA splicing|synaptic transmission nucleus RNA binding breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 40 GBM - Glioblastoma multiforme(265;0.0135) GCTCCATTACAGCCTTCACAG 0.438000 72 122 0 0 1 0 0 ANKRD35 148741 broad.mit.edu 37 1 145562359 145562359 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:145562359G>A ENST00000355594.4 + 10 2134 c.2047G>A c.(2047-2049)Gag>Aag p.E683K NM_144698.3 NP_653299.3 Q8N283 ANR35_HUMAN ankyrin repeat domain 35 683 NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(16)|ovary(4)|prostate(3)|skin(2)|urinary_tract(1) 47 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) ACTGGCCATGGAGAAGGAGGC 0.647000 36 103 0 0 1 0 0 ESD 2098 broad.mit.edu 37 13 47351613 47351613 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr13:47351613G>A ENST00000378720.3 - 9 928 c.746C>T c.(745-747)cCc>cTc p.P249L ESD_ENST00000378697.1_Missense_Mutation_p.P220L NM_001984.1 NP_001975.1 P10768 ESTD_HUMAN esterase D 249 cytoplasmic membrane-bounded vesicle carboxylesterase activity|S-formylglutathione hydrolase activity endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1) 9 all_lung(13;3.54e-08)|Lung NSC(96;9.1e-06)|Breast(56;0.000148)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556) GBM - Glioblastoma multiforme(144;2.66e-05) Glutathione(DB00143) AAAAACAACGGGGATTTTCTT 0.348000 6 136 0 0 1 0 0 PTPRE 5791 broad.mit.edu 37 10 129854420 129854420 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:129854420G>A ENST00000254667.3 + 7 733 c.454G>A c.(454-456)Gaa>Aaa p.E152K PTPRE_ENST00000471218.1_Silent_p.*150*|PTPRE_ENST00000419012.2_Missense_Mutation_p.E152K|PTPRE_ENST00000430713.2_Intron|PTPRE_ENST00000306042.5_Missense_Mutation_p.E94K NM_006504.4 NP_006495.1 P23469 PTPRE_HUMAN protein tyrosine phosphatase, receptor type, E 152 Tyrosine-protein phosphatase 1. negative regulation of insulin receptor signaling pathway|protein phosphorylation cytoplasm|integral to membrane|intermediate filament cytoskeleton|nucleus|plasma membrane transmembrane receptor protein tyrosine phosphatase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 22 all_epithelial(44;1.66e-05)|all_lung(145;0.00456)|Lung NSC(174;0.0066)|all_neural(114;0.0936)|Colorectal(57;0.141)|Breast(234;0.166)|Melanoma(40;0.203) AGGAACTTTTGAACTGGCAAA 0.363000 7 162 0 0 1 0 0 OXCT1 5019 broad.mit.edu 37 5 41842799 41842799 + Nonsense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:41842799G>A ENST00000196371.5 - 6 809 c.649C>T c.(649-651)Cga>Tga p.R217* OXCT1_ENST00000509987.1_Nonsense_Mutation_p.R31* NM_000436.3 NP_000427.1 P55809 SCOT1_HUMAN 3-oxoacid CoA transferase 1 217 cellular lipid metabolic process|ketone body catabolic process mitochondrial matrix 3-oxoacid CoA-transferase activity|protein homodimerization activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(2) 28 Succinic acid(DB00139) TTTCCTGCTCGGTCCGCCTTC 0.418000 14 330 0 0 1 0 0 P4HA1 5033 broad.mit.edu 37 10 74790102 74790102 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:74790102G>A ENST00000412021.2 - 11 1508 c.1175C>T c.(1174-1176)cCt>cTt p.P392L P4HA1_ENST00000373008.2_Missense_Mutation_p.P392L|P4HA1_ENST00000263556.3_Missense_Mutation_p.P392L|P4HA1_ENST00000394890.2_Missense_Mutation_p.P392L|P4HA1_ENST00000440381.1_Missense_Mutation_p.P392L|P4HA1_ENST00000307116.2_Missense_Mutation_p.P392L NM_001142595.1 NP_001136067.1 P13674 P4HA1_HUMAN prolyl 4-hydroxylase, alpha polypeptide I 392 endoplasmic reticulum lumen|mitochondrion iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1) 15 Prostate(51;0.0198) Hydralazine(DB01275)|L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126) AGACACCACAGGATTTTCATA 0.343000 26 46 0 0 1 0 0 PTPRZ1 5803 broad.mit.edu 37 7 121651245 121651245 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:121651245C>T ENST00000393386.2 + 12 2556 c.2145C>T c.(2143-2145)acC>acT p.T715T PTPRZ1_ENST00000449182.1_Silent_p.T715T NM_001206838.1|NM_002851.2 NP_001193767.1|NP_002842.2 P23471 PTPRZ_HUMAN protein tyrosine phosphatase, receptor-type, Z polypeptide 1 715 central nervous system development integral to plasma membrane protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2) 106 ATTATTCTACCTTTGCCTACT 0.478000 28 116 0 0 1 0 0 FSD2 123722 broad.mit.edu 37 15 83451767 83451767 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr15:83451767C>T ENST00000334574.8 - 4 927 c.746G>A c.(745-747)gGa>gAa p.G249E FSD2_ENST00000541889.1_Missense_Mutation_p.G249E A1L4K1 FSD2_HUMAN fibronectin type III and SPRY domain containing 2 249 breast(2)|central_nervous_system(1)|large_intestine(5)|lung(10) 18 TTCTTGTTTTCCAAAATTCTC 0.333000 47 105 0 0 1 0 0 IFT172 26160 broad.mit.edu 37 2 27703969 27703969 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:27703969G>A ENST00000260570.3 - 8 832 c.729C>T c.(727-729)ttC>ttT p.F243F IFT172_ENST00000416524.2_Silent_p.F222F|IFT172_ENST00000359466.6_Silent_p.F243F NM_015662.1 NP_056477.1 Q9UG01 IF172_HUMAN intraflagellar transport 172 homolog (Chlamydomonas) 243 cilium assembly cilium binding central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 43 Acute lymphoblastic leukemia(172;0.155) CAGCTGTGGTGAACTCCCGCT 0.493000 28 50 0 0 1 0 0 ALOX12B 242 broad.mit.edu 37 17 7980483 7980483 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:7980483G>A ENST00000319144.4 - 9 1360 c.1100C>T c.(1099-1101)cCc>cTc p.P367L ALOX12B_ENST00000577351.1_5'UTR NM_001139.2 NP_001130.1 O75342 LX12B_HUMAN arachidonate 12-lipoxygenase, 12R type 367 Lipoxygenase. epidermis development|leukotriene biosynthetic process arachidonate 12-lipoxygenase activity|iron ion binding|lipoxygenase activity endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|stomach(1) 16 CAGGAAGATGGGGCAATCTGG 0.602000 Multiple Myeloma(8;0.094) 12 35 0 0 1 0 0 ROS1 6098 broad.mit.edu 37 6 117710688 117710688 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:117710688G>A ENST00000368508.3 - 12 1782 c.1584C>T c.(1582-1584)ttC>ttT p.F528F ROS1_ENST00000368507.3_Silent_p.F537F|GOPC_ENST00000467125.1_Intron NM_002944.2 NP_002935.2 P08922 ROS_HUMAN c-ros oncogene 1 , receptor tyrosine kinase 528 transmembrane receptor protein tyrosine kinase signaling pathway membrane fraction|sodium:potassium-exchanging ATPase complex ATP binding|transmembrane receptor protein tyrosine kinase activity TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7) NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 162 all_cancers(87;0.00846)|all_epithelial(87;0.0242) GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137) ATCCCACGATGAATTCATTAA 0.458000 T """GOPC, SDC4, SLC34A2, EZR, LRIG3""" """glioblastoma, NSCLC""" 22 66 0 0 1 0 0 ZXDC 79364 broad.mit.edu 37 3 126160731 126160731 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:126160731G>A ENST00000389709.3 - 8 2324 c.2271C>T c.(2269-2271)ttC>ttT p.F757F NM_025112.4 NP_079388.3 Q2QGD7 ZXDC_HUMAN ZXD family zinc finger C 757 positive regulation of transcription, DNA-dependent nucleus C2H2 zinc finger domain binding|identical protein binding|LRR domain binding|nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(1) 17 GBM - Glioblastoma multiforme(114;0.155) GGCTTGCATGGAAATGGGGAG 0.527000 40 68 0 0 1 0 0 LCE3A 353142 broad.mit.edu 37 1 152595340 152595340 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:152595340G>A ENST00000335674.1 - 1 239 c.240C>T c.(238-240)agC>agT p.S80S NM_178431.1 NP_848518.1 Q5TA76 LCE3A_HUMAN late cornified envelope 3A 80 keratinization endometrium(1)|lung(5) 6 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) TGTGGCCACAGCTGGAGCTCC 0.557000 102 95 0 0 1 0 0 PDX1 3651 broad.mit.edu 37 13 28498679 28498679 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr13:28498679C>T ENST00000381033.4 + 2 812 c.693C>T c.(691-693)tcC>tcT p.S231S NM_000209.3 NP_000200.1 P52945 PDX1_HUMAN pancreatic and duodenal homeobox 1 231 detection of glucose|generation of precursor metabolites and energy|insulin secretion|nitric oxide mediated signal transduction|organ morphogenesis|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|type B pancreatic cell differentiation nucleus sequence-specific DNA binding transcription factor activity all_cancers(110;0.175)|all_hematologic(3;0.0447)|Acute lymphoblastic leukemia(6;0.155) Lung SC(185;0.0156) Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105) GBM - Glioblastoma multiforme(144;0.0402)|all cancers(112;0.0404)|OV - Ovarian serous cystadenocarcinoma(117;0.197) CCGTGACCTCCGGCGAGGAGC 0.756000 7 16 0 0 1 0 0 LINC00477 144360 broad.mit.edu 37 12 24736339 24736339 + RNA SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:24736339G>A ENST00000483544.1 - 0 763 NR_029451.2 CACCCTTTGCGAGGGGCACGT 0.562000 14 33 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 8993448 8993448 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:8993448C>T ENST00000397910.4 - 66 41844 c.41641G>A c.(41641-41643)Gag>Aag p.E13881K MUC16_ENST00000380951.5_Missense_Mutation_p.E522K NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 13884 SEA 12. Missing (in Ref. 3; AAK74120). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 TGGCTCAGCTCCAAATACAGC 0.602000 5 192 0 0 1 0 0 MORC1 27136 broad.mit.edu 37 3 108698393 108698393 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:108698393C>T ENST00000232603.5 - 24 2528 c.2446G>A c.(2446-2448)Gaa>Aaa p.E816K MORC1_ENST00000483760.1_Missense_Mutation_p.E795K NM_014429.3 NP_055244.3 Q86VD1 MORC1_HUMAN MORC family CW-type zinc finger 1 816 cell differentiation|multicellular organismal development|spermatogenesis nucleus ATP binding|zinc ion binding breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3) 105 CTCACTGTTTCCTTGACAGGT 0.398000 42 95 0 0 1 0 0 SRRM1 10250 broad.mit.edu 37 1 24981428 24981428 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:24981428C>T ENST00000323848.9 + 9 1438 c.1123C>T c.(1123-1125)Ccc>Tcc p.P375S SRRM1_ENST00000479034.1_3'UTR|SRRM1_ENST00000374389.4_Missense_Mutation_p.P370S|SRRM1_ENST00000537199.1_Missense_Mutation_p.256_256insL|SRRM1_ENST00000447431.2_Missense_Mutation_p.P375S NM_005839.3 NP_005830.2 Q8IYB3 SRRM1_HUMAN serine/arginine repetitive matrix 1 375 Arg-rich.|Necessary for speckles and matrix localization.|Pro-rich.|Ser-rich. mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription catalytic step 2 spliceosome|cytosol|nuclear matrix|nuclear speck DNA binding|protein binding|RNA binding breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2) 36 Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19) UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;1.01e-24)|Colorectal(126;5.95e-08)|COAD - Colon adenocarcinoma(152;3.24e-06)|GBM - Glioblastoma multiforme(114;0.000148)|BRCA - Breast invasive adenocarcinoma(304;0.00177)|KIRC - Kidney renal clear cell carcinoma(1967;0.00348)|STAD - Stomach adenocarcinoma(196;0.00483)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138) AAAGAAGCCTCCCAAGAGGAC 0.527000 53 102 0 0 1 0 0 SSPO 23145 broad.mit.edu 37 7 149523829 149523829 + RNA SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:149523829C>T ENST00000378016.2 + 0 14642 A2VEC9 SSPO_HUMAN SCO-spondin cell adhesion extracellular space peptidase inhibitor activity Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) CATTCTCTGCCCTGGGGCCTC 0.687000 5 75 0 0 1 0 0 BCL6B 255877 broad.mit.edu 37 17 6928492 6928492 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:6928492C>T ENST00000293805.5 + 5 954 c.862C>T c.(862-864)Ccc>Tcc p.P288S NM_181844.3 NP_862827.1 Q8N143 BCL6B_HUMAN B-cell CLL/lymphoma 6, member B 288 nucleus zinc ion binding skin(1) 1 CTCTGGATCACCCTCTGAACG 0.562000 57 162 0 0 1 0 0 IGHG3 3502 broad.mit.edu 37 14 106235897 106235897 + RNA SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr14:106235897C>T ENST00000390551.2 - 0 810 CGGGGCTGTCCTGTAGGGACA 0.632000 6 247 0 0 1 0 0 PAPOLB 56903 broad.mit.edu 37 7 4899715 4899715 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:4899715G>A ENST00000404991.1 - 1 1910 c.1724C>T c.(1723-1725)tCc>tTc p.S575F RADIL_ENST00000536091.1_Intron|RADIL_ENST00000399583.3_Intron NM_020144.4 NP_064529.4 Q9NRJ5 PAPOB_HUMAN poly(A) polymerase beta (testis specific) 575 mRNA processing|RNA polyadenylation|transcription, DNA-dependent nucleus ATP binding|metal ion binding|polynucleotide adenylyltransferase activity|RNA binding kidney(1)|large_intestine(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1) 14 Ovarian(82;0.0175) UCEC - Uterine corpus endometrioid carcinoma (126;0.089)|OV - Ovarian serous cystadenocarcinoma(56;2.06e-14) CTGTTGCAAGGAAAATTCAGT 0.463000 51 60 0 0 1 0 0 KIAA1109 84162 broad.mit.edu 37 4 123249360 123249360 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:123249360C>T ENST00000264501.4 + 66 11470 c.11097C>T c.(11095-11097)ccC>ccT p.P3699P KIAA1109_ENST00000388738.3_Silent_p.P3699P Q2LD37 K1109_HUMAN KIAA1109 3699 regulation of cell growth|regulation of epithelial cell differentiation integral to membrane|nucleus breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3) 172 TCAGTTCTCCCAAAACTCCAG 0.458000 7 122 0 0 1 0 0 GABRA4 2557 broad.mit.edu 37 4 46973144 46973144 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:46973144G>A ENST00000264318.3 - 7 1812 c.830C>T c.(829-831)tCa>tTa p.S277L NM_000809.3|NM_001204266.1|NM_001204267.1 NP_000800.2|NP_001191195.1|NP_001191196.1 P48169 GBRA4_HUMAN gamma-aminobutyric acid (GABA) A receptor, alpha 4 277 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) TATCCAAAATGAAACTTGAGA 0.343000 17 32 0 0 1 0 0 PMFBP1 83449 broad.mit.edu 37 16 72163085 72163085 + Missense_Mutation SNP C C G TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr16:72163085C>G ENST00000537465.1 - 13 2003 c.1845G>C c.(1843-1845)caG>caC p.Q615H PMFBP1_ENST00000355636.6_Missense_Mutation_p.Q465H|PMFBP1_ENST00000237353.10_Missense_Mutation_p.Q610H Q8TBY8 PMFBP_HUMAN polyamine modulated factor 1 binding protein 1 615 NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1) 45 Ovarian(137;0.179) TTGTGGCCTCCTGAAGATCTT 0.443000 165 154 0 0 1 0 0 OBSCN 84033 broad.mit.edu 37 1 228444418 228444418 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:228444418G>A ENST00000570156.2 + 16 4726 c.4652G>A c.(4651-4653)aGc>aAc p.S1551N OBSCN_ENST00000284548.11_Missense_Mutation_p.S1459N|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000422127.1_Missense_Mutation_p.S1459N|OBSCN_ENST00000359599.6_Missense_Mutation_p.S23N NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 528 Ig-like 16. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) GCGGGGGCCAGCACCACACTC 0.627000 24 56 0 0 1 0 0 OBSCN 84033 broad.mit.edu 37 1 228505286 228505286 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:228505286G>A ENST00000570156.2 + 63 16628 c.16554G>A c.(16552-16554)gtG>gtA p.V5518V OBSCN_ENST00000284548.11_Silent_p.V4561V|OBSCN_ENST00000366707.4_Silent_p.V2195V|OBSCN_ENST00000422127.1_Silent_p.V4561V|OBSCN_ENST00000366709.4_Silent_p.V1680V NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 4561 apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) GCGTGGAGGTGAAGGAGGGGG 0.667000 15 23 0 0 1 0 0 DNMT3B 1789 broad.mit.edu 37 20 31389227 31389227 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr20:31389227C>T ENST00000328111.2 + 19 2461 c.2140C>T c.(2140-2142)Ctg>Ttg p.L714L DNMT3B_ENST00000456297.2_Silent_p.L618L|DNMT3B_ENST00000201963.3_Silent_p.L706L|DNMT3B_ENST00000443239.3_Silent_p.L652L|DNMT3B_ENST00000348286.2_Silent_p.L694L|DNMT3B_ENST00000353855.2_Silent_p.L694L|DNMT3B_ENST00000344505.4_Silent_p.L694L NM_006892.3 NP_008823.1 Q9UBC3 DNM3B_HUMAN DNA (cytosine-5-)-methyltransferase 3 beta 714 negative regulation of histone H3-K9 methylation|positive regulation of gene expression|positive regulation of histone H3-K4 methylation metal ion binding|protein binding|transcription corepressor activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 CTCACGGTTCCTGGAGGTGAG 0.547000 21 42 0 0 1 0 0 SPATA31A6 389730 broad.mit.edu 37 9 43626664 43626664 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:43626664G>A ENST00000332857.6 - 4 2051 c.2023C>T c.(2023-2025)Cca>Tca p.P675S NM_001145196.1 NP_001138668.1 SPATA31 subfamily A, member 6 AGATTTTGTGGGGTCTCACCC 0.542000 14 223 0 0 1 0 0 GUCA1C 9626 broad.mit.edu 37 3 108672567 108672567 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:108672567G>A ENST00000261047.3 - 1 175 c.43C>T c.(43-45)Cct>Tct p.P15S GUCA1C_ENST00000471108.1_Missense_Mutation_p.P15S|GUCA1C_ENST00000393963.3_Missense_Mutation_p.P15S NM_005459.3 NP_005450.3 O95843 GUC1C_HUMAN guanylate cyclase activator 1C 15 EF-hand 1. signal transduction|visual perception calcium ion binding|calcium sensitive guanylate cyclase activator activity endometrium(2)|large_intestine(1)|liver(1)|lung(8)|pancreas(1)|skin(1) 14 TCTTGTGTAGGAACTGCTTTC 0.423000 47 87 0 0 1 0 0 HCN1 348980 broad.mit.edu 37 5 45262140 45262140 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:45262140C>T ENST00000303230.4 - 8 2613 c.2556G>A c.(2554-2556)ccG>ccA p.P852P NM_021072.3 NP_066550.2 O60741 HCN1_HUMAN hyperpolarization activated cyclic nucleotide-gated potassium channel 1 852 integral to membrane cAMP binding|sodium channel activity|voltage-gated potassium channel activity p.P852P(2) NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5) 156 CTCCTCGGTTCGGGGGGATGG 0.632000 33 123 0 0 1 0 0 MYH13 8735 broad.mit.edu 37 17 10243470 10243470 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:10243470G>A ENST00000418404.3 - 17 2216 c.2053C>T c.(2053-2055)Cct>Tct p.P685S MYH13_ENST00000252172.4_Missense_Mutation_p.P685S|MYH13_ENST00000570743.1_Missense_Mutation_p.P685S|RP11-401O9.3_ENST00000577743.1_RNA Q9UKX3 MYH13_HUMAN myosin, heavy chain 13, skeletal muscle 685 Myosin head-like. muscle contraction muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|microfilament motor activity breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2) 108 TACTCACCAGGAGTCTTGGTC 0.433000 9 11 0 0 1 0 0 TBX15 6913 broad.mit.edu 37 1 119427583 119427583 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:119427583C>T ENST00000369429.3 - 8 1590 c.1581G>A c.(1579-1581)agG>agA p.R527R TBX15_ENST00000207157.3_Silent_p.R421R Q96SF7 TBX15_HUMAN T-box 15 527 nucleus DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(19)|ovary(1)|pancreas(1)|skin(5) 37 all_neural(166;0.117) all_cancers(81;0.000692)|all_lung(203;3.05e-06)|Lung NSC(69;2.13e-05)|all_epithelial(167;0.000237) Lung(183;0.044)|LUSC - Lung squamous cell carcinoma(189;0.141) TTGCAGCTAGCCTAGGGGAAG 0.537000 17 49 0 0 1 0 0 NANOG 79923 broad.mit.edu 37 12 7945656 7945656 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:7945656G>A ENST00000229307.4 + 2 481 c.262G>A c.(262-264)Gaa>Aaa p.E88K NANOG_ENST00000526286.1_Missense_Mutation_p.E88K NM_024865.2 NP_079141.2 Q9H9S0 NANOG_HUMAN Nanog homeobox 88 cell proliferation|embryo development|somatic stem cell maintenance nucleolus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 14 Kidney(36;0.0872) CGCAAAAAAGGAAGACAAGGT 0.473000 55 74 0 0 1 0 0 IPP 3652 broad.mit.edu 37 1 46165713 46165713 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:46165713G>A ENST00000396478.3 - 9 1782 c.1680C>T c.(1678-1680)aaC>aaT p.N560N IPP_ENST00000495072.1_5'UTR NM_005897.2 NP_005888.1 Q9Y573 IPP_HUMAN intracisternal A particle-promoted polypeptide 560 actin cytoskeleton|cytoplasm actin binding central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|stomach(2) 20 Acute lymphoblastic leukemia(166;0.155) CTGAATGAGGGTTATAAACTT 0.438000 7 200 0 0 1 0 0 NFASC 23114 broad.mit.edu 37 1 204937468 204937468 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:204937468G>A ENST00000367172.4 + 9 1126 c.798G>A c.(796-798)ctG>ctA p.L266L NFASC_ENST00000338586.6_Silent_p.L266L|NFASC_ENST00000539706.1_Silent_p.L277L|NFASC_ENST00000401399.1_Silent_p.L266L|NFASC_ENST00000339876.6_Silent_p.L266L|NFASC_ENST00000403080.1_Silent_p.L266L|NFASC_ENST00000513543.1_Silent_p.L277L|NFASC_ENST00000360049.4_Silent_p.L277L|NFASC_ENST00000404076.1_Silent_p.L260L|NFASC_ENST00000367170.4_Silent_p.L266L|NFASC_ENST00000404907.1_Silent_p.L277L|NFASC_ENST00000367169.4_Silent_p.L266L|NFASC_ENST00000367171.4_Silent_p.L266L|NFASC_ENST00000338515.6_Silent_p.L266L O94856 NFASC_HUMAN neurofascin 266 Ig-like C2-type 3. axon guidance|cell adhesion|myelination|peripheral nervous system development integral to membrane|node of Ranvier|plasma membrane protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1) 81 all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158) ACCTCCTGCTGGAATGCATCG 0.577000 43 100 0 0 1 0 0 JAK3 3718 broad.mit.edu 37 19 17943362 17943362 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:17943362G>A ENST00000458235.1 - 19 2745 c.2646C>T c.(2644-2646)ttC>ttT p.F882F JAK3_ENST00000534444.1_Silent_p.F882F|JAK3_ENST00000527670.1_Silent_p.F882F NM_000215.3 NP_000206.2 P52333 JAK3_HUMAN Janus kinase 3 882 Protein kinase 2. B cell differentiation|cytokine-mediated signaling pathway|enzyme linked receptor protein signaling pathway|intracellular protein kinase cascade|negative regulation of dendritic cell cytokine production|negative regulation of FasL biosynthetic process|negative regulation of interleukin-10 production|negative regulation of interleukin-12 production|negative regulation of T-helper 1 cell differentiation|negative regulation of thymocyte apoptosis|peptidyl-tyrosine phosphorylation|positive regulation of anti-apoptosis|response to interleukin-15|response to interleukin-2|response to interleukin-4|response to interleukin-9|T cell homeostasis cytoskeleton|cytosol|endomembrane system|membrane ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5) 147 ACTTGACAATGAAATCACTGT 0.552000 2 Mis """acute megakaryocytic leukemia, ETP ALL""" 12 194 0 0 1 0 0 RBM47 54502 broad.mit.edu 37 4 40439863 40439863 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:40439863C>T ENST00000319592.4 - 4 1757 c.1048G>A c.(1048-1050)Gac>Aac p.D350N RBM47_ENST00000515809.1_Intron|RBM47_ENST00000381795.6_Missense_Mutation_p.D350N|RBM47_ENST00000514014.1_Missense_Mutation_p.D312N|RBM47_ENST00000295971.7_Missense_Mutation_p.D350N|RBM47_ENST00000381793.2_Missense_Mutation_p.D350N A0AV96 RBM47_HUMAN RNA binding motif protein 47 350 nucleus nucleotide binding|RNA binding breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1) 29 GTGTAGGGGTCGCAGGAGTAC 0.632000 43 65 0 0 1 0 0 PGM2L1 283209 broad.mit.edu 37 11 74054413 74054413 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:74054413G>A ENST00000298198.4 - 10 1578 c.1267C>T c.(1267-1269)Ctg>Ttg p.L423L NM_173582.3 NP_775853.2 Q6PCE3 PGM2L_HUMAN phosphoglucomutase 2-like 1 423 glucose 1-phosphate metabolic process cytosol glucose-1,6-bisphosphate synthase activity|phosphoglucomutase activity NS(2)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 26 Breast(11;3.32e-06) CCATTTTCCAGGAGGTCTATT 0.323000 27 77 0 0 1 0 0 ANGEL1 23357 broad.mit.edu 37 14 77273189 77273189 + Missense_Mutation SNP A A G TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr14:77273189A>G ENST00000251089.2 - 5 1062 c.950T>C c.(949-951)tTt>tCt p.F317S NM_015305.3 NP_056120.2 Q9UNK9 ANGE1_HUMAN angel homolog 1 (Drosophila) 317 breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1) 22 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0285) GAAACAGGTAAAGCCTGCAAG 0.537000 61 194 0 0 1 0 0 PDE4DIP 9659 broad.mit.edu 37 1 144855877 144855877 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:144855877C>T ENST00000369359.4 - 44 7122 c.7084G>A c.(7084-7086)Ggc>Agc p.G2362S PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.G2120S|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.G2226S|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.G2311S|PDE4DIP_ENST00000369354.3_Missense_Mutation_p.G2226S Q5VU43 MYOME_HUMAN phosphodiesterase 4D interacting protein 2226 cellular protein complex assembly centrosome|Golgi apparatus|myofibril|nucleus enzyme binding NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 176 Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126) CCTTTGCTGCCTAGCACCTGG 0.562000 T PDGFRB MPD 57 95 0 0 1 0 0 LCT 3938 broad.mit.edu 37 2 136547361 136547361 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:136547361C>T ENST00000264162.2 - 16 5353 c.5343G>A c.(5341-5343)caG>caA p.Q1781Q NM_002299.2 NP_002290.2 P09848 LPH_HUMAN lactase 1781 4 X approximate repeats. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|integral to plasma membrane|membrane fraction cation binding|glycosylceramidase activity|lactase activity breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4) 124 BRCA - Breast invasive adenocarcinoma(221;0.169) CCACCTTGTCCTGCACAGCTG 0.507000 38 59 0 0 1 0 0 CBL 867 broad.mit.edu 37 11 119146716 119146716 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:119146716C>T ENST00000264033.4 + 6 1255 c.879C>T c.(877-879)ttC>ttT p.F293F NM_005188.3 NP_005179.2 P22681 CBL_HUMAN Cbl proto-oncogene, E3 ubiquitin protein ligase 293 Cbl-PTB.|SH2-like. epidermal growth factor receptor signaling pathway|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of receptor-mediated endocytosis cytosol|nucleus calcium ion binding|sequence-specific DNA binding transcription factor activity|SH3 domain binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding p.Y291_F336del(1) breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(194)|kidney(3)|large_intestine(9)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 251 Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;4.92e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.000784) GTTATATCTTCCGGCTGAGCT 0.428000 """T, Mis S, O""" MLL """AML, JMML, MDS""" Noonan syndrome;CBL gene-associated Juvenile Myelomonocytic Leukemia and Developmental Anomalies 47 45 0 0 1 0 0 MEGF10 84466 broad.mit.edu 37 5 126753351 126753351 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:126753351G>A ENST00000274473.6 + 11 1419 c.1152G>A c.(1150-1152)gaG>gaA p.E384E MEGF10_ENST00000508365.1_Silent_p.E384E|MEGF10_ENST00000503335.2_Silent_p.E384E|MEGF10_ENST00000418761.2_Silent_p.E384E NM_032446.2 NP_115822.1 Q96KG7 MEG10_HUMAN multiple EGF-like-domains 10 384 Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern. cell adhesion|phagocytosis basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 68 Prostate(80;0.165) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123) TGTCTGGAGAGTGTGCCTGCA 0.498000 54 137 0 0 1 0 0 CHST15 51363 broad.mit.edu 37 10 125805500 125805500 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:125805500C>T ENST00000346248.5 - 2 871 c.229G>A c.(229-231)Ggg>Agg p.G77R CHST15_ENST00000435907.1_Missense_Mutation_p.G77R|CHST15_ENST00000421115.1_Missense_Mutation_p.G77R NM_001270764.1|NM_015892.3 NP_001257693.1|NP_056976.2 Q7LFX5 CHSTF_HUMAN carbohydrate (N-acetylgalactosamine 4-sulfate 6-O) sulfotransferase 15 77 hexose biosynthetic process Golgi membrane|integral to membrane 3'-phosphoadenosine 5'-phosphosulfate binding|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity endometrium(4)|kidney(1)|large_intestine(11)|lung(6)|ovary(3)|stomach(1) 26 CATCGCTTCCCCTTTTTGAAG 0.473000 33 61 0 0 1 0 0 GLP2R 9340 broad.mit.edu 37 17 9792824 9792824 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:9792824G>A ENST00000262441.5 + 13 1977 c.1464G>A c.(1462-1464)gaG>gaA p.E488E GLP2R_ENST00000574745.1_Silent_p.E308E NM_004246.1 NP_004237.1 O95838 GLP2R_HUMAN glucagon-like peptide 2 receptor 488 G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of cell proliferation integral to membrane|plasma membrane endometrium(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1) 44 Glucagon recombinant(DB00040) ATGGCGCTGAGAAGCTTCGGA 0.607000 42 84 0 0 1 0 0 FAT4 79633 broad.mit.edu 37 4 126241272 126241272 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:126241272G>A ENST00000394329.3 + 1 3719 c.3706G>A c.(3706-3708)Gat>Aat p.D1236N NM_024582.4 NP_078858.4 Q6V0I7 FAT4_HUMAN FAT atypical cadherin 4 1236 Cadherin 12. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6) 355 ATCTGCCTCAGATGTTGATGA 0.338000 7 66 0 0 1 0 0 SLC25A51 92014 broad.mit.edu 37 9 37888304 37888304 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:37888304G>A ENST00000377716.2 - 3 987 c.244C>T c.(244-246)Cgt>Tgt p.R82C SLC25A51_ENST00000242275.6_Missense_Mutation_p.R82C|RP11-613M10.9_ENST00000540557.1_Intron|SLC25A51_ENST00000496760.1_Intron|SLC25A51_ENST00000380590.3_Missense_Mutation_p.R82C Q9H1U9 MCAR1_HUMAN solute carrier family 25, member 51 82 transport integral to membrane|mitochondrial inner membrane p.R82C(1) AGGATTCCACGATACAAATTT 0.448000 7 164 0 0 1 0 0 DHX32 55760 broad.mit.edu 37 10 127555725 127555725 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:127555725G>A ENST00000284690.3 - 2 800 c.310C>T c.(310-312)Ctt>Ttt p.L104F DHX32_ENST00000284688.6_Missense_Mutation_p.L104F NM_018180.2 NP_060650.2 Q7L7V1 DHX32_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 32 104 Helicase ATP-binding. mitochondrion|nucleus ATP binding|helicase activity breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(2)|stomach(1) 29 all_lung(145;0.00751)|Lung NSC(174;0.0115)|Colorectal(57;0.0846)|all_neural(114;0.0936) TGGATGGAAAGACAATATTCA 0.498000 6 29 0 0 1 0 0 DIP2A 23181 broad.mit.edu 37 21 47959822 47959822 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr21:47959822G>A ENST00000318711.7 + 17 2140 c.1957G>A c.(1957-1959)Gtc>Atc p.V653I DIP2A_ENST00000427143.2_Missense_Mutation_p.V588I|DIP2A_ENST00000400274.1_Missense_Mutation_p.V648I|DIP2A_ENST00000466639.1_Missense_Mutation_p.V609I|DIP2A_ENST00000435722.3_Missense_Mutation_p.V652I|DIP2A_ENST00000457905.3_Missense_Mutation_p.V652I|DIP2A_ENST00000417564.2_Missense_Mutation_p.V652I NM_001146116.1|NM_015151.3 NP_001139588.1|NP_055966.2 Q14689 DIP2A_HUMAN DIP2 disco-interacting protein 2 homolog A (Drosophila) 652 multicellular organismal development nucleus catalytic activity|transcription factor binding cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 Breast(49;0.0933) Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824) CTTCCTCAACGTCTTCCAGTC 0.587000 78 114 0 0 1 0 0 SLC5A8 160728 broad.mit.edu 37 12 101551083 101551083 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:101551083C>T ENST00000536262.2 - 15 2365 c.1807G>A c.(1807-1809)Ggc>Agc p.G603S NM_145913.3 NP_666018.3 Q8N695 SC5A8_HUMAN solute carrier family 5 (sodium/monocarboxylate cotransporter), member 8 603 apoptosis|sodium ion transport apical plasma membrane|integral to membrane monocarboxylic acid transmembrane transporter activity|passive transmembrane transporter activity|symporter activity breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 47 TTGCTCTTGCCACTCTGATCT 0.363000 11 41 0 0 1 0 0 SLC6A20 54716 broad.mit.edu 37 3 45817262 45817262 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:45817262G>A ENST00000358525.4 - 4 688 c.573C>T c.(571-573)tcC>tcT p.S191S SLC6A20_ENST00000456124.2_Silent_p.S191S|SLC6A20_ENST00000353278.4_Silent_p.S191S NM_020208.3 NP_064593.1 Q9NP91 S6A20_HUMAN solute carrier family 6 (proline IMINO transporter), member 20 191 cellular nitrogen compound metabolic process|glycine transport|proline transport apical plasma membrane|integral to plasma membrane amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity breast(1)|endometrium(1)|large_intestine(6)|ovary(2)|skin(2)|urinary_tract(1) 13 BRCA - Breast invasive adenocarcinoma(193;0.01)|KIRC - Kidney renal clear cell carcinoma(197;0.0225)|Kidney(197;0.0267) CCTTGCCAGTGGACTCGGTGC 0.667000 32 68 0 0 1 0 0 KCNJ3 3760 broad.mit.edu 37 2 155566193 155566193 + Nonsense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:155566193C>T ENST00000295101.2 + 2 1258 c.781C>T c.(781-783)Caa>Taa p.Q261* KCNJ3_ENST00000544049.1_Intron|KCNJ3_ENST00000493505.1_3'UTR NM_001260509.1|NM_002239.3 NP_001247438.1|NP_002230.1 P48549 IRK3_HUMAN potassium inwardly-rectifying channel, subfamily J, member 3 261 synaptic transmission voltage-gated potassium channel complex G-protein activated inward rectifier potassium channel activity|protein binding breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(30)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 54 Halothane(DB01159) AGGGGCAGATCAACTTTTTCT 0.483000 28 68 0 0 1 0 0 FUT5 2527 broad.mit.edu 37 19 5867104 5867104 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:5867104G>A ENST00000252675.5 - 5 1195 c.633C>T c.(631-633)tcC>tcT p.S211S FUT5_ENST00000588525.1_Silent_p.S211S Q11128 FUT5_HUMAN fucosyltransferase 5 (alpha (1,3) fucosyltransferase) 211 L-fucose catabolic process|protein glycosylation Golgi cisterna membrane|integral to membrane 3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity|alpha(1,3)-fucosyltransferase activity central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1) 12 GCTTCCAGTTGGACACCGCCC 0.677000 28 69 0 0 1 0 0 TNC 3371 broad.mit.edu 37 9 117848381 117848381 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:117848381C>T ENST00000350763.4 - 3 2040 c.1629G>A c.(1627-1629)gtG>gtA p.V543V TNC_ENST00000542877.1_Silent_p.V543V|TNC_ENST00000537320.1_Silent_p.V543V|TNC_ENST00000341037.4_Silent_p.V543V|TNC_ENST00000345230.3_Silent_p.V543V|TNC_ENST00000423613.2_Silent_p.V543V|TNC_ENST00000535648.1_Silent_p.V543V|TNC_ENST00000340094.3_Silent_p.V543V|TNC_ENST00000346706.3_Silent_p.V543V NM_002160.3 NP_002151.2 P24821 TENA_HUMAN tenascin C 543 EGF-like 13. cell adhesion|response to wounding|signal transduction extracellular space receptor binding|syndecan binding NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 120 ACTGCCCATTCACACAGCGAC 0.592000 26 58 0 0 1 0 0 FCGBP 8857 broad.mit.edu 37 19 40357613 40357613 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:40357613G>A ENST00000221347.6 - 34 15707 c.15700C>T c.(15700-15702)Ctc>Ttc p.L5234F NM_003890.2 NP_003881.2 Q9Y6R7 FCGBP_HUMAN Fc fragment of IgG binding protein 5234 VWFD 13. extracellular region protein binding NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3) 165 all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06) Epithelial(26;6.25e-23)|all cancers(26;1.13e-20) AGGACACAGAGACCACGGGTG 0.632000 31 77 0 0 1 0 0 SLFN12 55106 broad.mit.edu 37 17 33750011 33750011 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:33750011C>T ENST00000394562.1 - 4 560 c.37G>A c.(37-39)Gag>Aag p.E13K SLFN12_ENST00000452764.3_Missense_Mutation_p.E13K|SLFN12_ENST00000304905.5_Missense_Mutation_p.E13K Q8IYM2 SLN12_HUMAN schlafen family member 12 13 ATP binding breast(1)|kidney(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 18 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) AGAACCAACTCGGCATAATTC 0.393000 65 188 0 0 1 0 0 LAMB2 3913 broad.mit.edu 37 3 49166502 49166502 + Missense_Mutation SNP C C G TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:49166502C>G ENST00000418109.1 - 14 1846 c.1682G>C c.(1681-1683)cGg>cCg p.R561P LAMB2_ENST00000305544.4_Missense_Mutation_p.R561P NM_002292.3 NP_002283.3 P55268 LAMB2_HUMAN laminin, beta 2 (laminin S) 561 Laminin IV type B. cell adhesion laminin-11 complex|laminin-3 complex structural molecule activity NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 61 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) CAGGAAGGGCCGGAAGTAGCC 0.622000 52 95 0 0 1 0 0 PCLO 27445 broad.mit.edu 37 7 82764221 82764221 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:82764221C>T ENST00000423517.2 - 3 2982 c.2645G>A c.(2644-2646)cGa>cAa p.R882Q PCLO_ENST00000333891.8_Missense_Mutation_p.R882Q NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 828 Pro-rich. cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity p.R882L(2)|p.R828L(1) breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 AGCGGTAGGTCGTGGGCCAGG 0.517000 161 373 0 0 1 0 0 HNRNPM 4670 broad.mit.edu 37 19 8550647 8550647 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:8550647C>T ENST00000348943.3 + 15 1450 c.1218C>T c.(1216-1218)ggC>ggT p.G406G HNRNPM_ENST00000325495.4_Silent_p.G445G NM_031203.3 NP_112480.2 P52272 HNRPM_HUMAN heterogeneous nuclear ribonucleoprotein M 445 27 X 6 AA repeats of [GEVSTPAN]-[ILMV]- [DE]-[RH]-[MLVI]-[GAV]. alternative nuclear mRNA splicing, via spliceosome catalytic step 2 spliceosome|integral to plasma membrane|nuclear matrix|nucleolus|paraspeckles nucleotide binding|protein domain specific binding|RNA binding endometrium(5)|kidney(2)|large_intestine(7)|lung(10)|ovary(1) 25 ACCGCATGGGCTCCGTGGAGC 0.706000 87 173 0 0 1 0 0 CR1 1378 broad.mit.edu 37 1 207785091 207785091 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:207785091G>A ENST00000367049.4 + 38 6365 c.6365G>A c.(6364-6366)gGg>gAg p.G2122E CR1_ENST00000400960.2_Missense_Mutation_p.G1672E|CR1_ENST00000367052.1_Missense_Mutation_p.G1672E|CR1_ENST00000367053.1_Missense_Mutation_p.G1672E|CR1_ENST00000367051.1_Missense_Mutation_p.G1672E NM_000651.4 NP_000642.3 P17927 CR1_HUMAN complement component (3b/4b) receptor 1 (Knops blood group) 1672 complement activation, classical pathway|innate immune response integral to plasma membrane complement receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 82 TTTTCACCTGGGCAGGAAGTG 0.567000 116 112 0 0 1 0 0 APOBEC3D 140564 broad.mit.edu 37 22 39418879 39418879 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr22:39418879G>A ENST00000216099.7 + 2 477 c.70G>A c.(70-72)Gaa>Aaa p.E24K APOBEC3D_ENST00000427494.2_Missense_Mutation_p.E24K|APOBEC3D_ENST00000381568.4_Missense_Mutation_p.E24K NM_152426.3 NP_689639.2 Q96AK3 ABC3D_HUMAN apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3D 24 negative regulation of transposition hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|zinc ion binding breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2) 11 Melanoma(58;0.04) CTTTGAAAACGAACCCATCCT 0.517000 54 106 0 0 1 0 0 NOXRED1 122945 broad.mit.edu 37 14 77861052 77861052 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr14:77861052G>A ENST00000380835.2 - 6 1168 c.1002C>T c.(1000-1002)acC>acT p.T334T NM_001113475.2 NP_001106946.1 Q6NXP6 CN148_HUMAN NADP-dependent oxidoreductase domain containing 1 334 proline biosynthetic process binding|pyrroline-5-carboxylate reductase activity NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3) 9 AGTATAGATGGGTAAGGTGGT 0.468000 43 61 0 0 1 0 0 UNC13C 440279 broad.mit.edu 37 15 54614145 54614145 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr15:54614145C>T ENST00000545554.1 + 13 4277 c.4277C>T c.(4276-4278)tCa>tTa p.S1426L UNC13C_ENST00000260323.11_Missense_Mutation_p.S1426L|UNC13C_ENST00000537900.1_Missense_Mutation_p.S1424L Q8NB66 UN13C_HUMAN unc-13 homolog C (C. elegans) 1426 exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4) 121 GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124) AGGCACTTTTCATGTCTGTCT 0.368000 7 5 0 0 1 0 0 RAB3IP 117177 broad.mit.edu 37 12 70150318 70150318 + Translation_Start_Site SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:70150318G>A ENST00000325555.9 + 0 580 RAB3IP_ENST00000550536.1_Missense_Mutation_p.D145N|RAB3IP_ENST00000247833.7_Missense_Mutation_p.D129N|RAB3IP_ENST00000483530.2_Missense_Mutation_p.D129N|RAB3IP_ENST00000362025.5_Missense_Mutation_p.D145N|RAB3IP_ENST00000378815.6_Missense_Mutation_p.D129N NM_022456.3 NP_071901.2 Q96QF0 RAB3I_HUMAN RAB3A interacting protein cilium assembly|Golgi to plasma membrane transport|protein localization to organelle|protein transport actin cortical patch|centrosome|cytosol|lamellipodium|microtubule basal body|nucleus guanyl-nucleotide exchange factor activity|protein binding NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 22 Esophageal squamous(21;0.187) Lung(24;0.000381)|OV - Ovarian serous cystadenocarcinoma(12;0.00168)|STAD - Stomach adenocarcinoma(21;0.00694) AGAGGCTTGCGATGGCAGTGA 0.398000 84 131 0 0 1 0 0 UGT1A5 54579 broad.mit.edu 37 2 234621848 234621848 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:234621848G>A ENST00000373414.3 + 1 211 c.211G>A c.(211-213)Gaa>Aaa p.E71K UGT1A6_ENST00000480628.1_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A8_ENST00000373450.4_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A6_ENST00000305139.6_Intron NM_019078.1 NP_061951.1 cervix(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|urinary_tract(1) 22 Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128) Epithelial(121;4.51e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000523)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.00645) GTACATCAAAGAAGAGAACTT 0.527000 5 118 0 0 1 0 0 PLAGL1 5325 broad.mit.edu 37 6 144262729 144262729 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:144262729C>T ENST00000360537.2 - 5 3137 c.1224G>A c.(1222-1224)ggG>ggA p.G408G PLAGL1_ENST00000437412.1_Silent_p.G356G|PLAGL1_ENST00000429150.1_Silent_p.G408G|PLAGL1_ENST00000416623.1_Silent_p.G408G|PLAGL1_ENST00000354765.2_Silent_p.G408G|PLAGL1_ENST00000392307.1_Silent_p.G356G|PLAGL1_ENST00000392309.1_Silent_p.G408G|PLAGL1_ENST00000367571.1_Silent_p.G408G|PLAGL1_ENST00000367572.1_Silent_p.G356G|PLAGL1_ENST00000444202.1_Silent_p.G408G Q9UM63 PLAL1_HUMAN pleiomorphic adenoma gene-like 1 408 cell cycle arrest|induction of apoptosis|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|large_intestine(4)|lung(2)|prostate(1)|skin(3)|stomach(2) 13 OV - Ovarian serous cystadenocarcinoma(155;5.74e-07)|GBM - Glioblastoma multiforme(68;0.0885) GCAAAGATTCCCCAGGCCCCA 0.632000 17 34 0 0 1 0 0 PAK6 56924 broad.mit.edu 37 15 40568173 40568173 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr15:40568173G>A ENST00000455577.2 + 10 2701 c.1789G>A c.(1789-1791)Gac>Aac p.D597N PAK6_ENST00000453867.1_Missense_Mutation_p.D642N|PAK6_ENST00000560346.1_Missense_Mutation_p.D642N|PAK6_ENST00000441369.1_Missense_Mutation_p.D642N|PAK6_ENST00000542403.2_Missense_Mutation_p.D642N|RP11-133K1.2_ENST00000558658.1_3'UTR|PAK6_ENST00000260404.4_Missense_Mutation_p.D642N NM_001276718.1 NP_001263647.1 Q9NQU5 PAK6_HUMAN p21 protein (Cdc42/Rac)-activated kinase 6 642 Protein kinase. ATP binding|protein binding|protein serine/threonine kinase activity breast(1)|cervix(1)|endometrium(3)|large_intestine(2)|liver(1)|lung(11)|ovary(2)|prostate(1)|skin(2) 24 all_cancers(109;1.13e-18)|all_epithelial(112;1.62e-15)|Lung NSC(122;5.67e-11)|all_lung(180;1.41e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0823)|Colorectal(260;0.117) GBM - Glioblastoma multiforme(113;1.51e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0544) GCTGGTGCGGGACCCCCAAGA 0.617000 67 154 0 0 1 0 0 SPECC1 92521 broad.mit.edu 37 17 19999992 19999992 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:19999992C>T ENST00000395529.3 + 2 80 c.28C>T c.(28-30)Cca>Tca p.P10S SPECC1_ENST00000395527.4_Missense_Mutation_p.P10S|SPECC1_ENST00000261503.5_Missense_Mutation_p.P10S|SPECC1_ENST00000472876.1_Intron NM_152904.4 NP_690868.3 Q5M775 CYTSB_HUMAN sperm antigen with calponin homology and coiled-coil domains 1 10 nucleus breast(1)|large_intestine(3)|ovary(4) 8 KIRC - Kidney renal clear cell carcinoma(2;0.166)|Kidney(2;0.196) GCCCTGGAACCCAGCCATCAG 0.562000 77 138 0 0 1 0 0 SEMA6D 80031 broad.mit.edu 37 15 48053197 48053197 + Silent SNP T T C TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr15:48053197T>C ENST00000316364.5 + 4 683 c.244T>C c.(244-246)Tta>Cta p.L82L SEMA6D_ENST00000537942.1_Silent_p.L82L|SEMA6D_ENST00000354744.4_Silent_p.L82L|SEMA6D_ENST00000389428.3_Silent_p.L82L|SEMA6D_ENST00000558816.1_Silent_p.L82L|SEMA6D_ENST00000389433.2_Silent_p.L82L|SEMA6D_ENST00000355997.3_Silent_p.L82L|SEMA6D_ENST00000389425.3_Silent_p.L82L|SEMA6D_ENST00000389432.2_Silent_p.L82L|SEMA6D_ENST00000558014.1_Silent_p.L82L|SEMA6D_ENST00000358066.4_Silent_p.L82L|SEMA6D_ENST00000536845.2_Silent_p.L82L NM_153618.1 NP_705871.1 Q8NFY4 SEM6D_HUMAN sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D 82 Sema. axon guidance cytoplasm|integral to membrane|plasma membrane receptor activity biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4) 77 all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18) all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06) TACAGTAAACTTAAATGAAAT 0.328000 21 49 0 0 1 0 0 MALAT1 378938 broad.mit.edu 37 11 65268527 65268527 + RNA SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:65268527C>T ENST00000534336.1 + 0 3295 NR_002819.2 AATTTGATAGCCAAATTGAGA 0.353000 7 129 0 0 1 0 0 VARS2 57176 broad.mit.edu 37 6 30893387 30893387 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:30893387C>T ENST00000321897.5 + 27 3484 c.2852C>T c.(2851-2853)aCc>aTc p.T951I VARS2_ENST00000542001.1_Missense_Mutation_p.T811I|VARS2_ENST00000541562.1_Missense_Mutation_p.T981I|VARS2_ENST00000476162.1_3'UTR|VARS2_ENST00000416670.2_Missense_Mutation_p.T951I Q5ST30 SYVM_HUMAN valyl-tRNA synthetase 2, mitochondrial 951 valyl-tRNA aminoacylation mitochondrion ATP binding|valine-tRNA ligase activity central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(3)|prostate(3)|skin(4)|urinary_tract(1) 46 CCCCTGGGCACCCTGGGCTAC 0.647000 18 49 0 0 1 0 0 RP11-478B9.1 0 broad.mit.edu 37 12 45457936 45457936 + RNA SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:45457936C>T ENST00000548424.1 + 0 448 GTACAGTTTTCACTCTGAGGA 0.428000 36 50 0 0 1 0 0 ARHGAP12 94134 broad.mit.edu 37 10 32197241 32197241 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:32197241G>A ENST00000375250.5 - 3 784 c.543C>T c.(541-543)ccC>ccT p.P181P ARHGAP12_ENST00000375245.4_Silent_p.P181P|ARHGAP12_ENST00000311380.4_Silent_p.P181P|ARHGAP12_ENST00000344936.2_Silent_p.P181P|ARHGAP12_ENST00000396144.4_Silent_p.P181P NM_001270696.1 NP_001257625.1 Q8IWW6 RHG12_HUMAN Rho GTPase activating protein 12 181 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(11)|lung(10)|skin(1)|urinary_tract(2) 31 Prostate(175;0.0199) ACTCTGGACCGGGAAAATGAC 0.428000 36 93 0 0 1 0 0 LEPREL1 55214 broad.mit.edu 37 3 189700914 189700914 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:189700914C>T ENST00000319332.5 - 8 1442 c.1245G>A c.(1243-1245)gtG>gtA p.V415V LEPREL1_ENST00000427335.2_Silent_p.V234V NM_018192.3 NP_060662.2 Q8IVL5 P3H2_HUMAN leprecan-like 1 415 collagen metabolic process|negative regulation of cell proliferation|peptidyl-proline hydroxylation basement membrane|endoplasmic reticulum|Golgi apparatus iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(5) 41 all_cancers(143;4.01e-10)|Ovarian(172;0.0925) Lung(62;4.35e-05) GBM - Glioblastoma multiforme(93;0.02) L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126) CCTCTACGTTCACTCCTGAAG 0.398000 53 131 0 0 1 0 0 ASH1L 55870 broad.mit.edu 37 1 155448148 155448148 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:155448148C>T ENST00000368346.3 - 3 5152 c.4513G>A c.(4513-4515)Ggc>Agc p.G1505S ASH1L_ENST00000392403.3_Missense_Mutation_p.G1505S Q9NR48 ASH1L_HUMAN ash1 (absent, small, or homeotic)-like (Drosophila) 1505 cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter chromosome|Golgi apparatus|nucleus|tight junction DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4) 124 Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145) Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021) CGGGAAGAGCCAGTGTCCATA 0.473000 29 120 0 0 1 0 0 DUSP22 56940 broad.mit.edu 37 6 348207 348207 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:348207C>T ENST00000604971.1 + 3 1172 c.59C>T c.(58-60)tCc>tTc p.S20F DUSP22_ENST00000605035.1_Missense_Mutation_p.S20F|DUSP22_ENST00000419235.2_Missense_Mutation_p.S123F|DUSP22_ENST00000605315.1_Missense_Mutation_p.S20F|DUSP22_ENST00000605863.1_Missense_Mutation_p.S20F|DUSP22_ENST00000603453.1_Missense_Mutation_p.S20F|DUSP22_ENST00000344450.5_Missense_Mutation_p.S123F Q9NRW4 DUS22_HUMAN dual specificity phosphatase 22 123 apoptosis|cell proliferation|inactivation of MAPK activity|multicellular organismal development|positive regulation of JNK cascade|regulation of cell proliferation|transforming growth factor beta receptor signaling pathway cytoplasm|nucleus protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(2) 26 all_hematologic(77;0.228) Breast(5;0.0249)|all_hematologic(90;0.0489) OV - Ovarian serous cystadenocarcinoma(45;0.0277)|BRCA - Breast invasive adenocarcinoma(62;0.0669) GCTGGGAGATCCTGTGCCAAC 0.577000 46 248 0 0 1 0 0 A4GNT 51146 broad.mit.edu 37 3 137843526 137843526 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:137843526G>A ENST00000236709.3 - 3 804 c.603C>T c.(601-603)caC>caT p.H201H NM_016161.2 NP_057245.1 Q9UNA3 A4GCT_HUMAN alpha-1,4-N-acetylglucosaminyltransferase 201 protein O-linked glycosylation Golgi membrane|Golgi stack|integral to membrane|membrane fraction acetylglucosaminyltransferase activity|galactosyltransferase activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7) 16 ACAAAAAGGGGTGGTGGGGGA 0.488000 5 190 0 0 1 0 0 OR13C9 286362 broad.mit.edu 37 9 107380230 107380230 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:107380230G>A ENST00000259362.1 - 1 255 c.256C>T c.(256-258)Ctt>Ttt p.L86F NM_001001956.1 NP_001001956.1 Q8NGT0 O13C9_HUMAN olfactory receptor, family 13, subfamily C, member 9 86 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(1)|large_intestine(6)|lung(9)|prostate(1)|skin(4) 22 CTTTCTGAAAGGAAGCTCACT 0.512000 38 111 0 0 1 0 0 PPP1R13B 23368 broad.mit.edu 37 14 104205250 104205250 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr14:104205250G>A ENST00000202556.9 - 13 2985 c.2703C>T c.(2701-2703)ttC>ttT p.F901F PPP1R13B_ENST00000423488.2_Silent_p.F320F|PPP1R13B_ENST00000555391.1_5'UTR NM_015316.2 NP_056131.2 Q96KQ4 ASPP1_HUMAN protein phosphatase 1, regulatory subunit 13B 901 apoptosis|induction of apoptosis|negative regulation of cell cycle cytoplasm|nucleus|plasma membrane protein binding endometrium(6)|kidney(2)|large_intestine(7)|lung(16)|ovary(1)|upper_aerodigestive_tract(1) 33 all_cancers(154;0.173)|all_epithelial(191;0.131)|Melanoma(154;0.155) GCACCAGATCGAACTCTCCTT 0.632000 69 188 0 0 1 0 0 NF1 4763 broad.mit.edu 37 17 29553501 29553501 + Nonsense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:29553501C>T ENST00000358273.4 + 18 2433 c.2050C>T c.(2050-2052)Cag>Tag p.Q684* NF1_ENST00000356175.3_Nonsense_Mutation_p.Q684* NM_001042492.2 NP_001035957.1 P21359 NF1_HUMAN neurofibromin 1 684 actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus protein binding|Ras GTPase activator activity p.0?(8)|p.?(4)|p.Q684*(1) NF1/ACCN1(2) autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9) 599 all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659) UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146) CCGACAAGCCCAGACCAAACT 0.507000 """D, Mis, N, F, S, O""" """neurofibroma, glioma""" """neurofibroma, glioma""" Neurofibromatosis, type 1 TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088) 24 60 0 0 1 0 0 IL23R 149233 broad.mit.edu 37 1 67672666 67672666 + Nonsense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:67672666G>A ENST00000347310.5 + 6 897 c.726G>A c.(724-726)tgG>tgA p.W242* C1orf141_ENST00000371007.2_Intron|IL23R_ENST00000371002.1_Nonsense_Mutation_p.W242* NM_144701.2 NP_653302.2 Q5VWK5 IL23R_HUMAN interleukin 23 receptor 242 Fibronectin type-III 2. inflammatory response|negative regulation of interleukin-10 production|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of interleukin-12 production|positive regulation of memory T cell differentiation|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response|response to interferon-gamma|response to lipopolysaccharide interleukin-23 receptor complex receptor activity breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(1)|skin(1)|urinary_tract(1) 21 TAATTTATTGGGATAGTCAAA 0.353000 15 52 0 0 1 0 0 GIMAP8 155038 broad.mit.edu 37 7 150174589 150174589 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:150174589G>A ENST00000307271.3 + 5 2293 c.1719G>A c.(1717-1719)ggG>ggA p.G573G NM_175571.2 NP_783161.1 Q8ND71 GIMA8_HUMAN GTPase, IMAP family member 8 573 endoplasmic reticulum|Golgi apparatus|mitochondrion GTP binding breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1) 62 OV - Ovarian serous cystadenocarcinoma(82;0.0218) UCEC - Uterine corpus endometrioid carcinoma (81;0.17) TAGGGGCGGGGAATTTGGAAG 0.468000 55 209 0 0 1 0 0 TEX35 84066 broad.mit.edu 37 1 178489839 178489839 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:178489839G>A ENST00000367641.3 + 7 432 c.373G>A c.(373-375)Gaa>Aaa p.E125K TEX35_ENST00000367639.1_Missense_Mutation_p.E133K|TEX35_ENST00000258298.2_Missense_Mutation_p.E49K|TEX35_ENST00000367642.3_3'UTR|TEX35_ENST00000319416.2_Missense_Mutation_p.E125K|TEX35_ENST00000367643.3_Missense_Mutation_p.E125K testis expressed 35 GGAGCAGCAGGAACTCAGGCT 0.552000 30 38 0 0 1 0 0 TGM2 7052 broad.mit.edu 37 20 36766626 36766626 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr20:36766626C>T ENST00000361475.2 - 10 1677 c.1504G>A c.(1504-1506)Gag>Aag p.E502K TGM2_ENST00000536724.1_Missense_Mutation_p.E442K|TGM2_ENST00000536701.1_Missense_Mutation_p.E421K NM_004613.2|NM_198951.1 NP_004604.2|NP_945189.1 P21980 TGM2_HUMAN transglutaminase 2 502 apoptotic cell clearance|peptide cross-linking|positive regulation of cell adhesion acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity endometrium(2)|large_intestine(11)|liver(1)|lung(7)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 Myeloproliferative disorder(115;0.00878) L-Glutamine(DB00130) CAGACGTACTCCTCAGCGGTG 0.597000 11 20 0 0 1 0 0 PCLO 27445 broad.mit.edu 37 7 82784887 82784887 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:82784887C>T ENST00000423517.2 - 2 1407 c.1070G>A c.(1069-1071)gGg>gAg p.G357E PCLO_ENST00000333891.8_Missense_Mutation_p.G357E NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 323 Gln-rich.|Pro-rich. cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 CTTTGTTGTCCCTGGTGGCTG 0.602000 17 60 0 0 1 0 0 GRIA2 2891 broad.mit.edu 37 4 158281283 158281283 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:158281283G>A ENST00000296526.7 + 13 2604 c.2279G>A c.(2278-2280)gGa>gAa p.G760E GRIA2_ENST00000393815.2_Missense_Mutation_p.G713E|AC079233.1_ENST00000578227.1_RNA|GRIA2_ENST00000264426.9_Missense_Mutation_p.G760E|GRIA2_ENST00000449365.1_Missense_Mutation_p.G713E|GRIA2_ENST00000507898.1_Missense_Mutation_p.G713E NM_000826.3 NP_000817.2 P42262 GRIA2_HUMAN glutamate receptor, ionotropic, AMPA 2 760 synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 79 all_hematologic(180;0.24) Renal(120;0.0458) COAD - Colon adenocarcinoma(41;0.0294) L-Glutamic Acid(DB00142) ACACCTAAAGGATCCTCATTA 0.423000 19 61 0 0 1 0 0 COL6A3 1293 broad.mit.edu 37 2 238275852 238275852 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:238275852G>A ENST00000295550.4 - 11 5430 c.4978C>T c.(4978-4980)Cgt>Tgt p.R1660C COL6A3_ENST00000472056.1_Missense_Mutation_p.R1053C|COL6A3_ENST00000353578.4_Missense_Mutation_p.R1454C|COL6A3_ENST00000346358.4_Missense_Mutation_p.R1460C|COL6A3_ENST00000347401.3_Missense_Mutation_p.R1459C|COL6A3_ENST00000409809.1_Missense_Mutation_p.R1454C NM_004369.3 NP_004360.2 P12111 CO6A3_HUMAN collagen, type VI, alpha 3 1660 Nonhelical region.|VWFA 9. axon guidance|cell adhesion|muscle organ development collagen type VI|extracellular space serine-type endopeptidase inhibitor activity breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4) 217 Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203) Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034) GACACAAAACGAAGCACTTCC 0.443000 30 54 0 0 1 0 0 SFRP5 6425 broad.mit.edu 37 10 99527510 99527510 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:99527510C>T ENST00000266066.3 - 3 833 c.715G>A c.(715-717)Gac>Aac p.D239N NM_003015.3 NP_003006.2 Q5T4F7 SFRP5_HUMAN secreted frizzled-related protein 5 239 NTR. apoptosis|brain development|cell differentiation|embryo development|establishment or maintenance of cell polarity|gonad development|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of cell proliferation|negative regulation of protein kinase B signaling cascade|negative regulation of sequence-specific DNA binding transcription factor activity|vasculature development|visual perception cytoplasm|extracellular space|plasma membrane PDZ domain binding|Wnt receptor activity|Wnt-protein binding large_intestine(1)|lung(4) 5 Colorectal(252;0.234) Epithelial(162;4.98e-10)|all cancers(201;3.58e-08) CGCTTGGTGTCCTTGCGCTTC 0.602000 55 94 0 0 1 0 0 GAK 2580 broad.mit.edu 37 4 871506 871506 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:871506C>T ENST00000314167.4 - 16 1863 c.1753G>A c.(1753-1755)Gtg>Atg p.V585M GAK_ENST00000511163.1_Missense_Mutation_p.V506M NM_005255.2 NP_005246.2 O14976 GAK_HUMAN cyclin G associated kinase 585 C2 tensin-type. cell cycle focal adhesion|Golgi apparatus|perinuclear region of cytoplasm ATP binding|heat shock protein binding|protein serine/threonine kinase activity autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2) 39 Colorectal(103;0.219) AACAGCGGCACGGGTGTCATG 0.632000 38 62 0 0 1 0 0 SYNGR1 9145 broad.mit.edu 37 22 39760256 39760256 + Nonsense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr22:39760256G>A ENST00000381535.4 + 1 82 c.57G>A c.(55-57)tgG>tgA p.W19* SYNGR1_ENST00000216155.7_Intron|SYNGR1_ENST00000406293.3_Intron|SYNGR1_ENST00000318801.4_Intron|SYNGR1_ENST00000328933.5_Intron NM_145738.2 NP_663791.1 synaptogyrin 1 endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1) 7 Melanoma(58;0.04) TAGGCAGCTGGACACAGAGGT 0.592000 55 123 0 0 1 0 0 GSE1 23199 broad.mit.edu 37 16 85690055 85690055 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr16:85690055G>A ENST00000253458.7 + 7 1272 c.1096G>A c.(1096-1098)Gag>Aag p.E366K GSE1_ENST00000393243.1_Missense_Mutation_p.E293K|GSE1_ENST00000405402.2_Missense_Mutation_p.E262K NM_014615.2 NP_055430.1 Gse1 coiled-coil protein gcgcgaacgcgagaaggagcg 0.697000 7 3 0 0 1 0 0 CRHBP 1393 broad.mit.edu 37 5 76251538 76251538 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:76251538C>T ENST00000274368.4 + 4 816 c.394C>T c.(394-396)Ccc>Tcc p.P132S CRHBP_ENST00000506501.1_Missense_Mutation_p.P132S NM_001882.3 NP_001873.2 P24387 CRHBP_HUMAN corticotropin releasing hormone binding protein 132 female pregnancy|learning or memory|signal transduction soluble fraction kidney(3)|large_intestine(4)|lung(6)|prostate(1)|skin(2) 16 all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11) OV - Ovarian serous cystadenocarcinoma(54;2.17e-51)|Epithelial(54;8.79e-46)|all cancers(79;2.49e-41) TCATCCTCTCCCCTCAGCTGA 0.463000 38 72 0 0 1 0 0 PAX5 5079 broad.mit.edu 37 9 37020785 37020785 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:37020785C>T ENST00000358127.4 - 2 134 c.60G>A c.(58-60)gtG>gtA p.V20V PAX5_ENST00000414447.1_Silent_p.V20V|PAX5_ENST00000523241.1_Silent_p.V20V|PAX5_ENST00000523145.1_Intron|PAX5_ENST00000520281.1_Silent_p.V20V|PAX5_ENST00000377847.2_Silent_p.V20V|PAX5_ENST00000520154.1_Silent_p.V20V|PAX5_ENST00000377852.2_Silent_p.V20V|PAX5_ENST00000377853.2_Silent_p.V20V|PAX5_ENST00000446742.1_Silent_p.V20V|PAX5_ENST00000522003.1_Intron NM_016734.1 NP_057953.1 Q02548 PAX5_HUMAN paired box 5 20 Paired. cell differentiation|humoral immune response|nervous system development|organ morphogenesis|spermatogenesis|transcription from RNA polymerase II promoter nucleus DNA binding p.?(41) PAX5/JAK2(18) NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(151)|kidney(1)|lung(10)|prostate(1)|skin(1) 171 all_cancers(2;3.46e-10)|Acute lymphoblastic leukemia(2;7.09e-56)|all_hematologic(2;6.65e-44) GBM - Glioblastoma multiforme(29;0.0108) CAAGCTGATTCACTCCTCCAT 0.532000 """T, Mis, D, F, S""" """IGH@, ETV6, PML, FOXP1, ZNF521, ELN""" """NHL, ALL, B-ALL""" 10 169 0 0 1 0 0 SRBD1 55133 broad.mit.edu 37 2 45832545 45832545 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:45832545G>A ENST00000263736.4 - 2 98 c.36C>T c.(34-36)gtC>gtT p.V12V NM_018079.4 NP_060549.4 Q8N5C6 SRBD1_HUMAN S1 RNA binding domain 1 12 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process hydrolase activity, acting on ester bonds|RNA binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(13)|large_intestine(8)|lung(15)|skin(2)|stomach(1)|urinary_tract(1) 49 all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17) LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154) CCACATCCTGGACCTGTACTT 0.348000 76 150 0 0 1 0 0 AGBL1 123624 broad.mit.edu 37 15 86791060 86791060 + Nonsense_Mutation SNP G G T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr15:86791060G>T ENST00000441037.2 + 6 642 c.547G>T c.(547-549)Gag>Tag p.E183* AGBL1_ENST00000421325.2_Nonsense_Mutation_p.E183* NM_152336.2 NP_689549.2 Q96MI9 CBPC4_HUMAN ATP/GTP binding protein-like 1 183 C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis cytosol metallocarboxypeptidase activity|tubulin binding|zinc ion binding NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 62 GTCCGGCAGGGAGGCCTTCCT 0.637000 33 57 2.87052e-16 2.89584e-16 1 1 0 GPR162 27239 broad.mit.edu 37 12 6936219 6936219 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:6936219C>T ENST00000311268.3 + 5 2404 c.1617C>T c.(1615-1617)tcC>tcT p.S539S GPR162_ENST00000382315.3_Silent_p.S235S|GPR162_ENST00000428545.2_Silent_p.S255S NM_019858.1 NP_062832.1 Q16538 GP162_HUMAN G protein-coupled receptor 162 539 integral to membrane|plasma membrane G-protein coupled receptor activity NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(2)|skin(1) 18 GCCGACTCTCCCTTGGGTCCC 0.647000 83 194 0 0 1 0 0 DPPA4 55211 broad.mit.edu 37 3 109049659 109049659 + Splice_Site SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:109049659C>T ENST00000335658.6 - 5 445 c.390_splice c.e5-1 p.D131_splice DPPA4_ENST00000478791.1_5'UTR NM_018189.3 NP_060659.3 Q7L190 DPPA4_HUMAN developmental pluripotency associated 4 131 nucleus protein binding central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(17)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 25 CTAGGAAAATCCTACAAAAAG 0.348000 36 70 0 0 1 0 0 ADAM22 53616 broad.mit.edu 37 7 87765335 87765335 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:87765335G>A ENST00000398204.4 + 14 1532 c.1209G>A c.(1207-1209)atG>atA p.M403I ADAM22_ENST00000265727.7_Missense_Mutation_p.M403I|ADAM22_ENST00000315984.7_Missense_Mutation_p.M403I|ADAM22_ENST00000398201.4_Missense_Mutation_p.M403I|ADAM22_ENST00000398209.3_Missense_Mutation_p.M403I NM_016351.4|NM_021723.3 NP_057435.2|NP_068369.1 Q9P0K1 ADA22_HUMAN ADAM metallopeptidase domain 22 403 Peptidase M12B. cell adhesion|central nervous system development|negative regulation of cell adhesion|proteolysis integral to membrane integrin binding|metalloendopeptidase activity|protein binding|receptor activity|zinc ion binding endometrium(7)|kidney(4)|large_intestine(7)|liver(2)|lung(20)|ovary(6)|prostate(4)|skin(3) 53 Esophageal squamous(14;0.00202) STAD - Stomach adenocarcinoma(171;0.215) GGTGCATAATGGGAGACACTG 0.398000 30 115 0 0 1 0 0 MUC4 4585 broad.mit.edu 37 3 195517442 195517442 + Nonsense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:195517442G>A ENST00000463781.3 - 2 1468 c.1009C>T c.(1009-1011)Caa>Taa p.Q337* MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Nonsense_Mutation_p.Q337*|MUC4_ENST00000346145.4_Intron NM_018406.6 NP_060876.5 Q99102 MUC4_HUMAN mucin 4, cell surface associated 342 cell-matrix adhesion integral to plasma membrane|proteinaceous extracellular matrix ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;2.37e-05) GTGTTGATTTGAGATACTCTG 0.458000 78 161 0 0 1 0 0 MYH15 22989 broad.mit.edu 37 3 108220676 108220676 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:108220676G>A ENST00000273353.3 - 4 338 c.282C>T c.(280-282)atC>atT p.I94I NM_014981.1 NP_055796.1 Q9Y2K3 MYH15_HUMAN myosin, heavy chain 15 94 Myosin head-like. myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 105 TCATCTGCTGGATTTTGTCCT 0.433000 56 153 0 0 1 0 0 OR11L1 391189 broad.mit.edu 37 1 248004539 248004539 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:248004539G>A ENST00000355784.2 - 1 715 c.660C>T c.(658-660)ttC>ttT p.F220F NM_001001959.1 NP_001001959.1 Q8NGX0 O11L1_HUMAN olfactory receptor, family 11, subfamily L, member 1 220 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 57 all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858) OV - Ovarian serous cystadenocarcinoma(106;0.0319) AGGACACAATGAAAACATAGG 0.488000 74 76 0 0 1 0 0 EPHB2 2048 broad.mit.edu 37 1 23191381 23191381 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:23191381G>A ENST00000400191.3 + 5 997 c.979G>A c.(979-981)Gcg>Acg p.A327T EPHB2_ENST00000465676.1_3'UTR|EPHB2_ENST00000544305.1_Missense_Mutation_p.A327T|EPHB2_ENST00000374632.3_Missense_Mutation_p.A327T|EPHB2_ENST00000374627.1_Missense_Mutation_p.A321T|EPHB2_ENST00000374630.3_Missense_Mutation_p.A327T NM_004442.6|NM_017449.3 NP_004433.2|NP_059145.2 P29323 EPHB2_HUMAN EPH receptor B2 327 Fibronectin type-III 1. axon guidance integral to plasma membrane ATP binding|transmembrane-ephrin receptor activity NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1) 56 Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258) UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153) CATCCCCTCCGCGCCCCAGGC 0.647000 36 68 0 0 1 0 0 ADAM20 8748 broad.mit.edu 37 14 70989852 70989852 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr14:70989852G>A ENST00000256389.3 - 2 2017 c.1773C>T c.(1771-1773)ttC>ttT p.F591F RP11-486O13.4_ENST00000556646.1_lincRNA NM_003814.4 NP_003805.3 O43506 ADA20_HUMAN ADAM metallopeptidase domain 20 541 Cys-rich. proteolysis|single fertilization integral to membrane metalloendopeptidase activity|zinc ion binding autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(1)|skin(2) 27 KIRC - Kidney renal clear cell carcinoma(12;0.133)|Kidney(31;0.188) all cancers(60;0.00294)|BRCA - Breast invasive adenocarcinoma(234;0.00668)|OV - Ovarian serous cystadenocarcinoma(108;0.0344) CACAGTGACCGAAACGGTTTC 0.418000 28 82 0 0 1 0 0 IAPP 3375 broad.mit.edu 37 12 21531321 21531321 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:21531321G>A ENST00000240652.3 + 3 367 c.231G>A c.(229-231)gaG>gaA p.E77E SLCO1A2_ENST00000473830.1_Intron|SLCO1A2_ENST00000307378.6_Intron|IAPP_ENST00000542023.1_3'UTR|IAPP_ENST00000539393.1_Silent_p.E77E|SLCO1A2_ENST00000537524.1_Intron NM_000415.2 NP_000406.1 P10997 IAPP_HUMAN islet amyloid polypeptide 77 apoptosis|cell-cell signaling|endocrine pancreas development|signal transduction extracellular region|soluble fraction hormone activity lung(3) 3 Perindopril(DB00790) ATGCAGTAGAGGTTTTAAAGA 0.378000 10 121 0 0 1 0 0 ATP2A3 489 broad.mit.edu 37 17 3845984 3845984 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:3845984G>A ENST00000309890.7 - 12 1611 c.1461C>T c.(1459-1461)ttC>ttT p.F487F ATP2A3_ENST00000359983.3_Silent_p.F487F|ATP2A3_ENST00000397039.1_5'UTR|ATP2A3_ENST00000397041.3_Silent_p.F487F|ATP2A3_ENST00000397035.3_Silent_p.F487F|ATP2A3_ENST00000352011.3_Silent_p.F487F|ATP2A3_ENST00000397043.3_Silent_p.F487F NM_174953.2|NM_174954.2|NM_174955.2|NM_174956.2 NP_777613.1|NP_777614.1|NP_777615.1|NP_777616.1 Q93084 AT2A3_HUMAN ATPase, Ca++ transporting, ubiquitous 487 ATP biosynthetic process|platelet activation integral to membrane|nuclear membrane|platelet dense tubular network membrane|sarcoplasmic reticulum membrane ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1) 36 LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766) GGTCTCGGGAGAACTCCAGGG 0.622000 50 83 0 0 1 0 0 OTOGL 283310 broad.mit.edu 37 12 80749641 80749641 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:80749641G>A ENST00000458043.2 + 46 5698 c.5692G>A c.(5692-5694)Gaa>Aaa p.E1898K OTOGL_ENST00000547103.1_Missense_Mutation_p.E1886K NM_173591.3 NP_775862.3 otogelin-like breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1) 23 TGACTGTGATGAAGAGCCCAC 0.453000 67 174 0 0 1 0 0 RPS6KA2 6196 broad.mit.edu 37 6 166923787 166923787 + Silent SNP G G A rs150080589 byFrequency TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:166923787G>A ENST00000510118.1 - 6 772 c.432C>T c.(430-432)ccC>ccT p.P144P RPS6KA2_ENST00000503859.1_Silent_p.P127P|RPS6KA2_ENST00000405189.3_Silent_p.P30P|RPS6KA2_ENST00000366863.2_5'UTR|RPS6KA2_ENST00000265678.4_Silent_p.P119P|RPS6KA2_ENST00000481261.2_Silent_p.P30P Q15349 KS6A2_HUMAN ribosomal protein S6 kinase, 90kDa, polypeptide 2 119 Protein kinase 1. axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm ATP binding|magnesium ion binding|protein serine/threonine kinase activity central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 45 Breast(66;2.04e-05)|Ovarian(120;0.0652)|Prostate(117;0.105) OV - Ovarian serous cystadenocarcinoma(33;2.76e-18)|GBM - Glioblastoma multiforme(31;9.94e-06)|BRCA - Breast invasive adenocarcinoma(81;1.36e-05) TCACAATGAAGGGGTGATTCA 0.403000 28 61 0 0 1 0 0 COLEC10 10584 broad.mit.edu 37 8 120118421 120118421 + Silent SNP G G A rs148434952 by1000genomes TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:120118421G>A ENST00000332843.2 + 6 866 c.825G>A c.(823-825)aaG>aaA p.K275K NM_006438.3 NP_006429.2 Q9Y6Z7 COL10_HUMAN collectin sub-family member 10 (C-type lectin) 275 collagen|cytoplasm mannose binding endometrium(2)|kidney(3)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 21 all_cancers(13;4.13e-26)|Lung NSC(37;1.36e-07)|Ovarian(258;0.018)|Hepatocellular(40;0.234) STAD - Stomach adenocarcinoma(47;0.00113) TCATCAAGAAGAAAAAGTAAC 0.408000 51 95 0 0 1 0 0 OR11H12 440153 broad.mit.edu 37 14 19378093 19378093 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr14:19378093G>A ENST00000550708.1 + 1 572 c.500G>A c.(499-501)gGa>gAa p.G167E NM_001013354.1|NM_001197287.1 NP_001013372.1|NP_001184216.1 B2RN74 O11HC_HUMAN olfactory receptor, family 11, subfamily H, member 12 167 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 22 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) TGGGTTTGTGGATTTCTGTGG 0.488000 26 348 0 0 1 0 0 INTS1 26173 broad.mit.edu 37 7 1539182 1539182 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:1539182G>A ENST00000389470.4 - 7 1154 c.1155C>T c.(1153-1155)ttC>ttT p.F385F INTS1_ENST00000404767.3_Silent_p.F257F|INTS1_ENST00000493531.1_5'UTR Q8N201 INT1_HUMAN integrator complex subunit 1 257 snRNA processing integral to membrane|integrator complex|nuclear membrane autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 62 Ovarian(82;0.0253) UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15) TTCTGGTGTTGAAGGCCGTCT 0.652000 14 22 0 0 1 0 0 PRKG1 5592 broad.mit.edu 37 10 54048536 54048536 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:54048536G>A ENST00000373980.4 + 15 2177 c.1760G>A c.(1759-1761)aGg>aAg p.R587K PRKG1_ENST00000373985.1_Missense_Mutation_p.R560K|PRKG1-AS1_ENST00000452247.2_RNA|PRKG1-AS1_ENST00000426785.2_RNA|PRKG1_ENST00000373975.2_Missense_Mutation_p.R290K|PRKG1_ENST00000401604.2_Missense_Mutation_p.R572K NM_006258.3 NP_006249.1 Q13976 KGP1_HUMAN protein kinase, cGMP-dependent, type I 572 Protein kinase. actin cytoskeleton organization|platelet activation|signal transduction cytosol ATP binding|cGMP binding|cGMP-dependent protein kinase activity autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 53 all_cancers(4;2.13e-08)|all_epithelial(4;2.44e-08)|all_lung(4;0.000173) all cancers(4;1.18e-05)|GBM - Glioblastoma multiforme(4;0.000359)|Epithelial(53;0.00532)|Lung(62;0.0606) ATCATATTGAGGGGGATTGAC 0.343000 31 90 0 0 1 0 0 HMG20A 10363 broad.mit.edu 37 15 77769931 77769931 + Missense_Mutation SNP A A C TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr15:77769931A>C ENST00000381714.3 + 8 1078 c.650A>C c.(649-651)gAc>gCc p.D217A HMG20A_ENST00000336216.4_Missense_Mutation_p.D217A NM_018200.2 NP_060670.1 Q9NP66 HM20A_HUMAN high mobility group 20A 217 chromatin modification nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 18 TCTGTTTTTGACATCCCTATA 0.333000 22 40 0 0 1 0 0 PDK1 5163 broad.mit.edu 37 2 173429367 173429367 + Nonsense_Mutation SNP C C T rs139326921 TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:173429367C>T ENST00000410055.1 + 4 647 c.547C>T c.(547-549)Cga>Tga p.R183* PDK1_ENST00000392571.2_Nonsense_Mutation_p.R203*|PDK1_ENST00000282077.2_Nonsense_Mutation_p.R183*|PDK1_ENST00000544863.1_Nonsense_Mutation_p.R28*|PDK1_ENST00000543905.1_Nonsense_Mutation_p.R107* NM_002610.3 NP_002601.1 Q15118 PDK1_HUMAN pyruvate dehydrogenase kinase, isozyme 1 183 Histidine kinase. glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate|small GTPase mediated signal transduction mitochondrial matrix ATP binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1) 16 OV - Ovarian serous cystadenocarcinoma(117;0.12) CTTTTTGGATCGATTCTACAT 0.433000 Autosomal Dominant Polycystic Kidney Disease 7 94 0 0 1 0 0 YBX2 51087 broad.mit.edu 37 17 7193752 7193752 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:7193752G>A ENST00000007699.5 - 5 625 c.562C>T c.(562-564)Ccc>Tcc p.P188S YBX2_ENST00000570627.1_5'UTR NM_015982.3 NP_057066.2 Q9Y2T7 YBOX2_HUMAN Y box binding protein 2 188 Pro-rich. regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter|translational attenuation cytoplasm|nucleus DNA binding cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|skin(3) 12 GCAACTGAGGGAGGCCGGGGG 0.657000 58 88 0 0 1 0 0 DAG1 1605 broad.mit.edu 37 3 49570028 49570028 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:49570028C>T ENST00000545947.1 + 6 2806 c.2084C>T c.(2083-2085)gCc>gTc p.A695V DAG1_ENST00000308775.2_Missense_Mutation_p.A695V|DAG1_ENST00000539901.1_Missense_Mutation_p.A695V|DAG1_ENST00000538711.1_Missense_Mutation_p.A695V|DAG1_ENST00000541308.1_Missense_Mutation_p.A695V|DAG1_ENST00000515359.2_Missense_Mutation_p.A695V NM_001177634.2 NP_001171105.1 Q14118 DAG1_HUMAN dystroglycan 1 (dystrophin-associated glycoprotein 1) 695 Peptidase S72. cytoskeletal anchoring at plasma membrane|interspecies interaction between organisms|microtubule anchoring|negative regulation of cell migration|negative regulation of MAPKKK cascade|negative regulation of protein kinase B signaling cascade basement membrane|contractile ring|cytoplasm|cytoskeleton|dystrophin-associated glycoprotein complex|extracellular space|filopodium|integral to membrane|integral to membrane of membrane fraction|lamellipodium|nucleoplasm actin binding|alpha-actinin binding|calcium ion binding|laminin-1 binding|receptor activity|structural constituent of muscle|tubulin binding|vinculin binding NS(1)|autonomic_ganglia(2)|breast(2)|endometrium(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)|skin(1) 23 BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.00241)|KIRC - Kidney renal clear cell carcinoma(197;0.00258) TTCTCCAACGCCCTAGAGCCT 0.602000 22 45 0 0 1 0 0 SLC15A2 6565 broad.mit.edu 37 3 121659335 121659335 + Splice_Site SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:121659335G>A ENST00000489711.1 + 21 2401 c.2013_splice c.e21+1 p.Q671_splice SLC15A2_ENST00000295605.2_Splice_Site_p.Q640_splice NM_021082.3 NP_066568.3 Q16348 S15A2_HUMAN solute carrier family 15 (oligopeptide transporter), member 2 671 protein transport integral to plasma membrane peptide:hydrogen symporter activity|protein binding NS(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(17)|skin(6)|upper_aerodigestive_tract(2) 36 GBM - Glioblastoma multiforme(114;0.0967) Cefadroxil(DB01140) GCCTGGTACAGGTATGGATCT 0.483000 21 47 0 0 1 0 0 MYO5B 4645 broad.mit.edu 37 18 47527697 47527697 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr18:47527697G>A ENST00000285039.7 - 5 839 c.540C>T c.(538-540)ttC>ttT p.F180F NM_001080467.2 NP_001073936.1 Q9ULV0 MYO5B_HUMAN myosin VB 180 Myosin head-like. protein transport myosin complex actin binding|ATP binding|calmodulin binding|motor activity NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4) 87 READ - Rectum adenocarcinoma(32;0.103) CAACGGTGGCGAAATAGCGCA 0.532000 61 123 0 0 1 0 0 LOC645166 645166 broad.mit.edu 37 1 148933290 148933290 + RNA SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:148933290G>A ENST00000539543.1 + 0 176 NR_027355.1 GCTGCCCGCAGGATATTGTGG 0.557000 5 44 0 0 1 0 0 MYO5B 4645 broad.mit.edu 37 18 47428987 47428987 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr18:47428987G>A ENST00000285039.7 - 21 3087 c.2788C>T c.(2788-2790)Ctg>Ttg p.L930L MYO5B_ENST00000324581.6_Silent_p.L71L NM_001080467.2 NP_001073936.1 Q9ULV0 MYO5B_HUMAN myosin VB 930 protein transport myosin complex actin binding|ATP binding|calmodulin binding|motor activity NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4) 87 READ - Rectum adenocarcinoma(32;0.103) TTCCGCTGCAGCTGGACCACC 0.597000 50 86 0 0 1 0 0 CCDC36 339834 broad.mit.edu 37 3 49294424 49294424 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:49294424G>A ENST00000438782.1 + 8 1730 c.1494G>A c.(1492-1494)caG>caA p.Q498Q CCDC36_ENST00000296449.5_Silent_p.Q498Q|CCDC36_ENST00000452691.2_Silent_p.Q498Q Q8IYA8 CCD36_HUMAN coiled-coil domain containing 36 498 endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|ovary(1)|urinary_tract(3) 14 BRCA - Breast invasive adenocarcinoma(193;9.11e-05)|Kidney(197;0.00248)|KIRC - Kidney renal clear cell carcinoma(197;0.00262) CCCGTGCTCAGCCTCTGCATC 0.532000 134 297 0 0 1 0 0 C9orf171 389799 broad.mit.edu 37 9 135374153 135374153 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:135374153C>T ENST00000343036.2 + 3 423 c.375C>T c.(373-375)atC>atT p.I125I C9orf171_ENST00000393216.2_Silent_p.I89I|C9orf171_ENST00000393215.3_Silent_p.I89I NM_207417.1 NP_997300.1 Q6ZQR2 CI171_HUMAN chromosome 9 open reading frame 171 125 large_intestine(7)|lung(9)|ovary(4)|prostate(3) 23 GACTCTACATCCGAGGGCTTG 0.577000 9 20 0 0 1 0 0 CBLB 868 broad.mit.edu 37 3 105377847 105377847 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:105377847G>A ENST00000264122.4 - 19 3237 c.2916C>T c.(2914-2916)ttC>ttT p.F972F CBLB_ENST00000407712.1_Silent_p.F187F|CBLB_ENST00000394027.3_Silent_p.F950F NM_170662.3 NP_733762.2 Q13191 CBLB_HUMAN Cbl proto-oncogene B, E3 ubiquitin protein ligase 972 cell surface receptor linked signaling pathway|NLS-bearing substrate import into nucleus cytoplasm|nucleus calcium ion binding|ligase activity|signal transducer activity|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(2)|urinary_tract(2) 49 CTGGAGGAGGGAAGGCAAATT 0.463000 Mis S AML 37 103 0 0 1 0 0 ADAD1 132612 broad.mit.edu 37 4 123302179 123302179 + Missense_Mutation SNP C C T rs62000437 byFrequency TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:123302179C>T ENST00000296513.2 + 4 390 c.205C>T c.(205-207)Ctt>Ttt p.L69F ADAD1_ENST00000492454.1_3'UTR|ADAD1_ENST00000388724.2_Missense_Mutation_p.L69F|ADAD1_ENST00000388725.2_Missense_Mutation_p.L51F NM_139243.3 NP_640336.1 Q96M93 ADAD1_HUMAN adenosine deaminase domain containing 1 (testis-specific) 69 multicellular organismal development|RNA processing nucleus adenosine deaminase activity|double-stranded RNA binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 35 TTCCAAGAATCTTTCATCTAT 0.318000 31 39 0 0 1 0 0 UNC13C 440279 broad.mit.edu 37 15 54306782 54306782 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr15:54306782C>T ENST00000545554.1 + 1 1682 c.1682C>T c.(1681-1683)tCa>tTa p.S561L UNC13C_ENST00000260323.11_Missense_Mutation_p.S561L|UNC13C_ENST00000537900.1_Missense_Mutation_p.S561L Q8NB66 UN13C_HUMAN unc-13 homolog C (C. elegans) 561 exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4) 121 GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124) CAGTCTTACTCAGAAGATTTT 0.413000 12 45 0 0 1 0 0 BRMS1 25855 broad.mit.edu 37 11 66109713 66109713 + Splice_Site SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:66109713C>T ENST00000359957.3 - 2 154 c.e2-1 BRMS1_ENST00000425825.2_Splice_Site NM_015399.3 NP_056214.1 Q9HCU9 BRMS1_HUMAN breast cancer metastasis suppressor 1 apoptosis|negative regulation of anti-apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of transcription, DNA-dependent|positive regulation of anoikis|positive regulation of protein deacetylation|transcription, DNA-dependent cytoplasm|nucleus NF-kappaB binding large_intestine(1)|liver(1)|lung(1)|prostate(1)|skin(1) 5 CATCTGGACTCTGGGAGAAGG 0.542000 36 102 0 0 1 0 0 FMO1 2326 broad.mit.edu 37 1 171250046 171250046 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:171250046C>T ENST00000354841.4 + 5 880 c.749C>T c.(748-750)cCa>cTa p.P250L FMO1_ENST00000367750.3_Missense_Mutation_p.P250L|FMO1_ENST00000402921.2_Missense_Mutation_p.P187L|FMO1_ENST00000469112.1_3'UTR Q01740 FMO1_HUMAN flavin containing monooxygenase 1 250 NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process endoplasmic reticulum lumen|integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(2)|skin(2) 27 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) CTCCCAACCCCAATTGTGACT 0.458000 31 84 0 0 1 0 0 CHAC2 494143 broad.mit.edu 37 2 53999048 53999048 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:53999048G>A ENST00000295304.4 + 2 235 c.140G>A c.(139-141)gGa>gAa p.G47E GPR75-ASB3_ENST00000394717.2_Intron|ASB3_ENST00000406625.2_Intron|GPR75-ASB3_ENST00000263634.3_Intron|GPR75-ASB3_ENST00000352846.3_Intron|GPR75-ASB3_ENST00000406687.1_Intron|ASB3_ENST00000498475.2_Intron NM_001008708.2 NP_001008708.1 Q8WUX2 CHAC2_HUMAN ChaC, cation transport regulator homolog 2 (E. coli) 47 endometrium(1)|large_intestine(2)|lung(4)|prostate(1) 8 Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181) AAACAGCCTGGAAGAGTTGTG 0.264000 7 159 0 0 1 0 0 LRIT3 345193 broad.mit.edu 37 4 110788932 110788932 + Missense_Mutation SNP T T C TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:110788932T>C ENST00000327908.3 + 3 940 c.176T>C c.(175-177)tTg>tCg p.L59S LRIT3_ENST00000379920.3_Missense_Mutation_p.L197S|LRIT3_ENST00000594814.1_Missense_Mutation_p.L242S|LRIT3_ENST00000409621.2_Missense_Mutation_p.L59S Q3SXY7 LRIT3_HUMAN leucine-rich repeat, immunoglobulin-like and transmembrane domains 3 197 integral to membrane cervix(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1) 16 OV - Ovarian serous cystadenocarcinoma(123;0.0011) ACAGGAATTTTGTTTCAGCGG 0.468000 32 62 0 0 1 0 0 HDAC4 9759 broad.mit.edu 37 2 240037004 240037004 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:240037004G>A ENST00000345617.3 - 13 2312 c.1521C>T c.(1519-1521)atC>atT p.I507I HDAC4_ENST00000543185.1_Silent_p.I91I|HDAC4_ENST00000541256.1_Silent_p.I481I NM_006037.3 NP_006028.2 P56524 HDAC4_HUMAN histone deacetylase 4 507 B cell differentiation|cardiac muscle hypertrophy in response to stress|chromatin remodeling|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of glycolysis|negative regulation of myotube differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development|peptidyl-lysine deacetylation|positive regulation of cell proliferation|positive regulation of protein sumoylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|response to denervation involved in regulation of muscle adaptation|response to interleukin-1|transcription, DNA-dependent histone deacetylase complex|transcriptional repressor complex activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|potassium ion binding|repressing transcription factor binding|zinc ion binding NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(5) 62 all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159) Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04) GCTTGGGGATGATCTGCAAGG 0.637000 10 115 0 0 1 0 0 SLITRK3 22865 broad.mit.edu 37 3 164905886 164905886 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:164905886C>T ENST00000475390.1 - 2 3176 c.2733G>A c.(2731-2733)aaG>aaA p.K911K SLITRK3_ENST00000241274.3_Silent_p.K911K O94933 SLIK3_HUMAN SLIT and NTRK-like family, member 3 911 integral to membrane NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5) 119 CGTGCAGTTCCTTTAATTTGG 0.537000 HNSCC(40;0.11) 11 148 0 0 1 0 0 CD22 933 broad.mit.edu 37 19 35832309 35832309 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:35832309C>T ENST00000085219.5 + 8 1637 c.1571C>T c.(1570-1572)tCg>tTg p.S524L CD22_ENST00000419549.2_Missense_Mutation_p.S352L|CD22_ENST00000544992.2_Missense_Mutation_p.S524L|CD22_ENST00000270311.6_Missense_Mutation_p.S404L|CD22_ENST00000594250.1_Missense_Mutation_p.S347L|CD22_ENST00000536635.2_Missense_Mutation_p.S436L|CD22_ENST00000341773.6_Missense_Mutation_p.S347L NM_001771.3 NP_001762.2 P20273 CD22_HUMAN CD22 molecule 524 Ig-like C2-type 5. cell adhesion protein binding|sugar binding breast(2)|endometrium(2)|kidney(3)|large_intestine(14)|lung(21)|ovary(5)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 54 all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162) Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417) OspA lipoprotein(DB00045) TCTGGAAACTCGGTCAGCCTC 0.557000 33 70 0 0 1 0 0 ADAD1 132612 broad.mit.edu 37 4 123302226 123302226 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:123302226G>A ENST00000296513.2 + 4 437 c.252G>A c.(250-252)aaG>aaA p.K84K ADAD1_ENST00000492454.1_3'UTR|ADAD1_ENST00000388724.2_Silent_p.K84K|ADAD1_ENST00000388725.2_Silent_p.K66K NM_139243.3 NP_640336.1 Q96M93 ADAD1_HUMAN adenosine deaminase domain containing 1 (testis-specific) 84 multicellular organismal development|RNA processing nucleus adenosine deaminase activity|double-stranded RNA binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 35 AAATACCTAAGGAATTTATAA 0.368000 32 78 0 0 1 0 0 EPS15L1 58513 broad.mit.edu 37 19 16497018 16497018 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:16497018G>A ENST00000455140.2 - 20 2194 c.2128C>T c.(2128-2130)Ccc>Tcc p.P710S EPS15L1_ENST00000535753.2_Missense_Mutation_p.P710S|EPS15L1_ENST00000594975.1_Missense_Mutation_p.P712S|EPS15L1_ENST00000248070.6_Missense_Mutation_p.P710S NM_001258374.1 NP_001245303.1 Q9UBC2 EP15R_HUMAN epidermal growth factor receptor pathway substrate 15-like 1 710 15 X 3 AA repeats of D-P-F. endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway coated pit|nucleus|plasma membrane calcium ion binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(4)|skin(2) 30 GATGAAAAGGGATCACTGGAT 0.473000 13 28 0 0 1 0 0 ASNS 440 broad.mit.edu 37 7 97488680 97488680 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:97488680G>A ENST00000175506.4 - 6 1046 c.518C>T c.(517-519)cCc>cTc p.P173L ASNS_ENST00000394309.3_Missense_Mutation_p.P173L|ASNS_ENST00000444334.1_Missense_Mutation_p.P152L|ASNS_ENST00000455086.1_Missense_Mutation_p.P90L|ASNS_ENST00000422745.1_Missense_Mutation_p.P152L|ASNS_ENST00000394308.3_Missense_Mutation_p.P173L|ASNS_ENST00000437628.1_Missense_Mutation_p.P90L NM_183356.3 NP_899199.2 P08243 ASNS_HUMAN asparagine synthetase (glutamine-hydrolyzing) 173 Glutamine amidotransferase type-2. cellular response to glucose starvation|glutamine metabolic process|negative regulation of apoptosis|positive regulation of mitotic cell cycle cytosol|soluble fraction asparagine synthase (glutamine-hydrolyzing) activity|ATP binding p.P173L(1) ovary(1) 1 all_cancers(62;6.64e-09)|all_epithelial(64;1.58e-09)|Esophageal squamous(72;0.00448)|Lung NSC(181;0.0342)|all_lung(186;0.0369) Adenosine triphosphate(DB00171)|L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)|L-Glutamine(DB00130) TTTTAAAAAGGGAGTCGCGGA 0.373000 57 126 0 0 1 0 0 BARX2 8538 broad.mit.edu 37 11 129306905 129306905 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:129306905G>A ENST00000281437.4 + 2 543 c.447G>A c.(445-447)gaG>gaA p.E149E BARX2_ENST00000526127.1_Silent_p.E4E NM_003658.4 NP_003649.2 Q9UMQ3 BARX2_HUMAN BARX homeobox 2 149 breast(1)|central_nervous_system(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 20 all_hematologic(175;0.0749) Lung NSC(97;0.000383)|all_lung(97;0.000824)|Breast(109;0.000962)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.00929)|Lung(977;0.0245)|LUSC - Lung squamous cell carcinoma(976;0.0253) TGGGCCTGGAGAAGAAATTCC 0.602000 8 9 0 0 1 0 0 COL4A2 1284 broad.mit.edu 37 13 111119388 111119388 + Splice_Site SNP T T C TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr13:111119388T>C ENST00000360467.5 + 27 2346 c.2038_splice c.e27-1 p.G680_splice NM_001846.2 NP_001837.2 P08572 CO4A2_HUMAN collagen, type IV, alpha 2 680 Triple-helical region. angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis collagen type IV extracellular matrix structural constituent|protein binding NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 80 all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922) Breast(118;0.212) BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151) TGTCCCCAGGTTGCATAGGAG 0.602000 6 100 0 0 1 0 0 ANKRD20A1 84210 broad.mit.edu 37 9 67951960 67951960 + Missense_Mutation SNP C C A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:67951960C>A ENST00000377477.2 + 9 1035 c.923C>A c.(922-924)cCt>cAt p.P308H NM_032250.3 NP_115626.2 ankyrin repeat domain 20 family, member A1 kidney(1)|large_intestine(4)|lung(5)|urinary_tract(1) 11 GTGTCAGAGCCTTTACCTGGA 0.373000 5 172 1.12685e-05 1.13069e-05 1 1 0 PRSS36 146547 broad.mit.edu 37 16 31154937 31154937 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr16:31154937C>T ENST00000268281.4 - 7 1000 c.942G>A c.(940-942)agG>agA p.R314R PRSS36_ENST00000418068.2_Silent_p.R314R|PRSS36_ENST00000569305.1_Silent_p.R314R NM_001258290.1|NM_173502.4 NP_001245219.1|NP_775773.2 Q5K4E3 POLS2_HUMAN protease, serine, 36 314 proteolysis cytoplasm|proteinaceous extracellular matrix serine-type endopeptidase activity p.R314R(1) kidney(2)|large_intestine(4)|lung(8)|ovary(3) 17 AGTTCTCCTCCCTGGGCTCCT 0.622000 77 135 0 0 1 0 0 SPATA31E1 286234 broad.mit.edu 37 9 90497927 90497927 + Nonsense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:90497927C>T ENST00000325643.5 + 1 187 c.121C>T c.(121-123)Cag>Tag p.Q41* NM_178828.4 NP_849150.3 SPATA31 subfamily E, member 1 CATTGCACTTCAGATGGAGAA 0.562000 18 27 0 0 1 0 0 DSG1 1828 broad.mit.edu 37 18 28934907 28934907 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr18:28934907G>A ENST00000257192.4 + 15 2960 c.2748G>A c.(2746-2748)gaG>gaA p.E916E RP11-534N16.1_ENST00000578477.1_RNA|RP11-534N16.1_ENST00000581452.1_RNA|RP11-534N16.1_ENST00000581856.1_RNA|DSG1_ENST00000462981.2_Silent_p.E275E NM_001942.2 NP_001933.2 Q02413 DSG1_HUMAN desmoglein 1 916 calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization cytosol|desmosome|integral to membrane|internal side of plasma membrane calcium ion binding|gamma-catenin binding|toxin binding NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1) 76 OV - Ovarian serous cystadenocarcinoma(10;0.00559) ATCCTAGAGAGTCTTCAAATG 0.468000 8 268 0 0 1 0 0 AKR1A1 10327 broad.mit.edu 37 1 46034239 46034239 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:46034239C>T ENST00000372070.3 + 7 1382 c.635C>T c.(634-636)cCt>cTt p.P212L AKR1A1_ENST00000351829.4_Missense_Mutation_p.P212L NM_001202413.1|NM_001202414.1|NM_006066.3 NP_001189342.1|NP_001189343.1|NP_006057.1 P14550 AK1A1_HUMAN aldo-keto reductase family 1, member A1 (aldehyde reductase) 212 glucose metabolic process alditol:NADP+ 1-oxidoreductase activity|electron carrier activity|protein binding lung(3)|prostate(1)|urinary_tract(1) 5 Acute lymphoblastic leukemia(166;0.155) GCTTATAGCCCTTTGGGCTCC 0.532000 31 75 0 0 1 0 0 PCDH15 65217 broad.mit.edu 37 10 55626427 55626427 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:55626427C>T ENST00000373965.2 - 28 4107 c.3713G>A c.(3712-3714)gGa>gAa p.G1238E PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000437009.1_Missense_Mutation_p.G1160E|PCDH15_ENST00000395445.1_Missense_Mutation_p.G1238E|PCDH15_ENST00000395433.1_Missense_Mutation_p.G1209E|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395430.1_Missense_Mutation_p.G1231E|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000395432.2_Missense_Mutation_p.G1194E|PCDH15_ENST00000395438.1_Missense_Mutation_p.G1231E|PCDH15_ENST00000409834.1_Missense_Mutation_p.G842E|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000361849.3_Missense_Mutation_p.G1231E|PCDH15_ENST00000414778.1_Missense_Mutation_p.G1236E|PCDH15_ENST00000320301.6_Missense_Mutation_p.G1231E NM_001142771.1|NM_001142772.1 NP_001136243.1|NP_001136244.1 Q96QU1 PCD15_HUMAN protocadherin-related 15 1231 Cadherin 11. equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1) 237 Melanoma(3;0.117)|Lung SC(717;0.238) GCCGCTCAGTCCCTTCCCATA 0.408000 HNSCC(58;0.16) 5 96 0 0 1 0 0 ANTXR2 118429 broad.mit.edu 37 4 80975499 80975499 + Missense_Mutation SNP C C G TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:80975499C>G ENST00000403729.2 - 7 1088 c.563G>C c.(562-564)aGa>aCa p.R188T ANTXR2_ENST00000404191.1_Missense_Mutation_p.R111T|ANTXR2_ENST00000346652.6_Missense_Mutation_p.R188T|ANTXR2_ENST00000307333.7_Missense_Mutation_p.R188T|ANTXR2_ENST00000295465.4_Missense_Mutation_p.R188T NM_058172.5 NP_477520.2 P58335 ANTR2_HUMAN anthrax toxin receptor 2 188 VWFA. endoplasmic reticulum membrane|extracellular region|integral to membrane|plasma membrane metal ion binding|protein binding|receptor activity endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1) 13 ATCAGCAATTCTTTCAAGCTT 0.368000 Juvenile Hyaline Fibromatosis 5 75 0 0 1 0 0 TGM7 116179 broad.mit.edu 37 15 43572144 43572144 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr15:43572144G>A ENST00000452443.2 - 10 1361 c.1357C>T c.(1357-1359)Cct>Tct p.P453S NM_052955.2 NP_443187.1 Q96PF1 TGM7_HUMAN transglutaminase 7 453 peptide cross-linking acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(2)|prostate(4)|skin(1) 39 all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;9.14e-07) L-Glutamine(DB00130) CTCTCCTCAGGGGATCCTGCA 0.567000 32 86 0 0 1 0 0 AGGF1 55109 broad.mit.edu 37 5 76359013 76359013 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:76359013C>T ENST00000312916.7 + 14 2463 c.2081C>T c.(2080-2082)cCa>cTa p.P694L NM_018046.4 NP_060516.2 Q8N302 AGGF1_HUMAN angiogenic factor with G patch and FHA domains 1 694 angiogenesis|cell adhesion|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|RNA processing|vasculogenesis extracellular region|perinuclear region of cytoplasm eukaryotic cell surface binding|nucleic acid binding|protein binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(2) 20 all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11) OV - Ovarian serous cystadenocarcinoma(54;4.51e-51)|Epithelial(54;2.2e-45)|all cancers(79;6.68e-41) GAAAACTTCCCAGAAACTAAG 0.408000 8 168 0 0 1 0 0 PXDNL 137902 broad.mit.edu 37 8 52359601 52359601 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:52359601C>T ENST00000356297.4 - 12 1588 c.1488G>A c.(1486-1488)gtG>gtA p.V496V PXDNL_ENST00000543296.1_Silent_p.V496V NM_144651.4 NP_653252.3 A1KZ92 PXDNL_HUMAN peroxidasin homolog (Drosophila)-like 496 Ig-like C2-type 3. hydrogen peroxide catabolic process extracellular space heme binding|peroxidase activity NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 48 all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015) ACACCTTTTTCACCCCCAACG 0.453000 72 170 0 0 1 0 0 FAT4 79633 broad.mit.edu 37 4 126411586 126411586 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:126411586C>T ENST00000394329.3 + 17 13622 c.13609C>T c.(13609-13611)Ccc>Tcc p.P4537S FAT4_ENST00000335110.5_Missense_Mutation_p.P2778S NM_024582.4 NP_078858.4 Q6V0I7 FAT4_HUMAN FAT atypical cadherin 4 4537 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6) 355 GGCCAAAAATCCCAAAGAGGA 0.532000 32 73 0 0 1 0 0 CYP4X1 260293 broad.mit.edu 37 1 47505188 47505188 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:47505188G>A ENST00000371901.3 + 8 1307 c.1057G>A c.(1057-1059)Ggg>Agg p.G353R CYP4X1_ENST00000466294.1_3'UTR|CYP4X1_ENST00000538609.1_Missense_Mutation_p.G352R NM_178033.1 NP_828847.1 Q8N118 CP4X1_HUMAN cytochrome P450, family 4, subfamily X, polypeptide 1 353 endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(1) 17 CCTGGGGGATGGGTCTTCTAT 0.512000 30 42 0 0 1 0 0 DCAF12L2 340578 broad.mit.edu 37 X 125299857 125299857 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chrX:125299857C>T ENST00000538699.1 - 2 131 c.51G>A c.(49-51)gaG>gaA p.E17E DCAF12L2_ENST00000360028.2_Silent_p.E17E NM_001013628.2 NP_001013650.1 Q5VW00 DC122_HUMAN DDB1 and CUL4 associated factor 12-like 2 17 NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3) 64 CGGCTCCCGCCTCGACCGCGG 0.741000 22 7 0 0 1 0 0 C1orf173 127254 broad.mit.edu 37 1 75038970 75038970 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:75038970G>A ENST00000326665.5 - 14 2642 c.2424C>T c.(2422-2424)ccC>ccT p.P808P C1orf173_ENST00000433746.2_5'UTR NM_001002912.4 NP_001002912.4 Q5RHP9 CA173_HUMAN chromosome 1 open reading frame 173 808 Glu-rich. NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5) 184 ACGCCCTCAAGGGAGCCTCAT 0.557000 42 114 0 0 1 0 0 PCDHGC3 5098 broad.mit.edu 37 5 140856889 140856889 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:140856889C>T ENST00000308177.3 + 1 1310 c.1206C>T c.(1204-1206)tcC>tcT p.S402S PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGB6_ENST00000520790.1_Intron NM_002588.2|NM_032402.1 NP_002579.2|NP_115778.1 breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(2)|urinary_tract(1) 29 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TTACTTCTTCCCTCAAGAATT 0.552000 25 63 0 0 1 0 0 DCDC1 341019 broad.mit.edu 37 11 30938550 30938550 + Nonsense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:30938550G>A ENST00000597505.1 - 24 3318 c.3319C>T c.(3319-3321)Cga>Tga p.R1107* DCDC1_ENST00000339794.5_Nonsense_Mutation_p.R186*|DCDC1_ENST00000406071.2_5'UTR P59894 DCDC1_HUMAN doublecortin domain containing 1 0 intracellular signal transduction central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1) 31 Lung SC(675;0.225) GCCTTCATTCGAAGATGAGCT 0.413000 61 93 0 0 1 0 0 MUC15 143662 broad.mit.edu 37 11 26584718 26584718 + Missense_Mutation SNP T T G TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:26584718T>G ENST00000436318.2 - 3 1003 c.870A>C c.(868-870)aaA>aaC p.K290N MUC15_ENST00000455601.2_Missense_Mutation_p.K263N|ANO3_ENST00000529242.1_3'UTR|ANO3_ENST00000256737.3_Intron|ANO3_ENST00000531568.1_Intron|ANO3_ENST00000525139.1_Intron|ANO3_ENST00000537978.1_Intron|MUC15_ENST00000529533.1_Missense_Mutation_p.K290N|MUC15_ENST00000527569.1_Intron|MUC15_ENST00000281268.8_Intron Q8N387 MUC15_HUMAN mucin 15, cell surface associated 263 extracellular region|integral to membrane|plasma membrane breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 25 CCGTTTTCCTTTTTCCACACA 0.398000 6 171 0 0 1 0 0 PRUNE2 158471 broad.mit.edu 37 9 79326224 79326224 + Silent SNP G G T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:79326224G>T ENST00000376718.3 - 8 1089 c.966C>A c.(964-966)ccC>ccA p.P322P PRUNE2_ENST00000428286.1_5'UTR NM_015225.2 NP_056040.2 Q8WUY3 PRUN2_HUMAN prune homolog 2 (Drosophila) 322 apoptosis|G1 phase|induction of apoptosis cytoplasm metal ion binding|pyrophosphatase activity endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1) 16 CACAGTCAAAGGGCTCCAGTT 0.498000 14 18 2.61681e-11 2.63403e-11 1 1 0 ZNF493 284443 broad.mit.edu 37 19 21606969 21606969 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:21606969C>T ENST00000392288.2 + 4 1617 c.1508C>T c.(1507-1509)aCc>aTc p.T503I CTD-2561J22.3_ENST00000600810.1_Intron|ZNF493_ENST00000355504.4_Missense_Mutation_p.T375I NM_001076678.2 NP_001070146.1 Q6ZR52 ZN493_HUMAN zinc finger protein 493 375 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 30 CAATCTTCAACCCTTAGTATA 0.323000 22 52 0 0 1 0 0 AGTR1 185 broad.mit.edu 37 3 148459479 148459479 + Nonsense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:148459479G>A ENST00000542281.1 + 4 1103 c.657G>A c.(655-657)tgG>tgA p.W219* AGTR1_ENST00000404754.2_Nonsense_Mutation_p.W219*|AGTR1_ENST00000474935.1_Nonsense_Mutation_p.W219*|AGTR1_ENST00000402260.1_Nonsense_Mutation_p.W219*|AGTR1_ENST00000461609.1_Nonsense_Mutation_p.W219*|AGTR1_ENST00000497524.1_Nonsense_Mutation_p.W219*|AGTR1_ENST00000418473.2_Nonsense_Mutation_p.W219*|AGTR1_ENST00000349243.3_Nonsense_Mutation_p.W219*|AGTR1_ENST00000475347.1_Nonsense_Mutation_p.W219* NM_031850.3 NP_114038.4 P30556 AGTR1_HUMAN angiotensin II receptor, type 1 219 calcium-mediated signaling|cell chemotaxis|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|kidney development|low-density lipoprotein particle remodeling|positive regulation of cellular protein metabolic process|positive regulation of cholesterol esterification|positive regulation of inflammatory response|positive regulation of NAD(P)H oxidase activity|positive regulation of phospholipase A2 activity|positive regulation of reactive oxygen species metabolic process|regulation of cell growth|regulation of cell proliferation|regulation of renal sodium excretion|regulation of vasoconstriction|renin-angiotensin regulation of aldosterone production|Rho protein signal transduction acetyltransferase activator activity|angiotensin type I receptor activity|angiotensin type II receptor activity|bradykinin receptor binding|protein heterodimerization activity breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 30 LUSC - Lung squamous cell carcinoma(72;0.127)|Lung(72;0.152) Candesartan(DB00796)|Eprosartan(DB00876)|Forasartan(DB01342)|Irbesartan(DB01029)|Losartan(DB00678)|Olmesartan(DB00275)|Saprisartan(DB01347)|Spironolactone(DB00421)|Tasosartan(DB01349)|Telmisartan(DB00966)|Valsartan(DB00177) CTCTTATTTGGAAGGCCCTAA 0.358000 28 57 0 0 1 0 0 MRC2 9902 broad.mit.edu 37 17 60766925 60766925 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:60766925C>T ENST00000303375.5 + 24 3779 c.3377C>T c.(3376-3378)cCg>cTg p.P1126L MRC2_ENST00000580916.1_Intron|MRC2_ENST00000446119.2_Intron NM_006039.4 NP_006030.2 Q9UBG0 MRC2_HUMAN mannose receptor, C type 2 1126 endocytosis integral to membrane receptor activity|sugar binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3) 53 CCCCCCGCCCCGGGCACTGAG 0.687000 11 22 0 0 1 0 0 PCDHB1 29930 broad.mit.edu 37 5 140433321 140433321 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:140433321G>A ENST00000306549.3 + 1 2343 c.2266G>A c.(2266-2268)Gaa>Aaa p.E756K NM_013340.2 NP_037472.2 Q9Y5F3 PCDB1_HUMAN 756 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 53 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TTGTCCATATGAAATGTGTTC 0.418000 33 90 0 0 1 0 0 C10orf54 64115 broad.mit.edu 37 10 73512747 73512747 + Missense_Mutation SNP A A C TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:73512747A>C ENST00000394957.3 - 5 747 c.689T>G c.(688-690)cTg>cGg p.L230R CDH23_ENST00000224721.6_Intron NM_022153.1 NP_071436.1 Q9H7M9 GI24_HUMAN chromosome 10 open reading frame 54 230 integral to membrane receptor activity breast(1)|central_nervous_system(2)|endometrium(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 9 CATCCGCACCAGCTCCTGGGC 0.577000 8 29 0 0 1 0 0 PCDHAC1 56135 broad.mit.edu 37 5 140307843 140307843 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:140307843G>A ENST00000253807.2 + 1 1366 c.1366G>A c.(1366-1368)Gaa>Aaa p.E456K PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHAC1_ENST00000409700.3_Missense_Mutation_p.E456K|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA4_ENST00000530339.1_Intron NM_018898.3 NP_061721.2 NS(2)|breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|liver(2)|lung(13)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4) 65 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TTTCGTTGCTGAAAACAATGG 0.517000 50 117 0 0 1 0 0 EPRS 2058 broad.mit.edu 37 1 220198503 220198503 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:220198503G>A ENST00000366923.3 - 7 990 c.721C>T c.(721-723)Cct>Tct p.P241S NM_004446.2 NP_004437.2 P07814 SYEP_HUMAN glutamyl-prolyl-tRNA synthetase 241 Glutamyl-tRNA synthetase. glutamyl-tRNA aminoacylation|prolyl-tRNA aminoacylation|protein complex assembly cytosol|soluble fraction ATP binding|glutamate-tRNA ligase activity|proline-tRNA ligase activity|protein binding|RNA binding breast(2)|endometrium(11)|kidney(2)|large_intestine(13)|lung(24)|ovary(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(3) 63 GBM - Glioblastoma multiforme(131;0.0735) L-Glutamic Acid(DB00142)|L-Proline(DB00172) TCTTTTTCAGGATTTGTGTCA 0.363000 59 72 0 0 1 0 0 MTNR1A 4543 broad.mit.edu 37 4 187455284 187455284 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:187455284G>A ENST00000307161.5 - 2 813 c.612C>T c.(610-612)atC>atT p.I204I RP11-215A19.2_ENST00000509111.1_Intron NM_005958.3 NP_005949.1 P48039 MTR1A_HUMAN melatonin receptor 1A 204 circadian rhythm|G-protein signaling, coupled to cyclic nucleotide second messenger|mating behavior integral to plasma membrane melatonin receptor activity breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 14 all_cancers(14;6.39e-56)|all_epithelial(14;1.48e-41)|all_lung(41;2.45e-15)|Lung NSC(41;7.26e-15)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00335)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|Renal(120;0.0183)|all_neural(102;0.202) OV - Ovarian serous cystadenocarcinoma(60;7.63e-12)|BRCA - Breast invasive adenocarcinoma(30;6.68e-07)|GBM - Glioblastoma multiforme(59;3.44e-05)|LUSC - Lung squamous cell carcinoma(40;0.000106)|STAD - Stomach adenocarcinoma(60;0.000279)|READ - Rectum adenocarcinoma(43;0.159) Melatonin(DB01065)|Ramelteon(DB00980) GGTAACAGAAGATGACTATGA 0.527000 79 143 0 0 1 0 0 GPRC6A 222545 broad.mit.edu 37 6 117127646 117127646 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:117127646C>T ENST00000310357.3 - 3 1243 c.1222G>A c.(1222-1224)Gag>Aag p.E408K GPRC6A_ENST00000368549.3_Missense_Mutation_p.E408K|GPRC6A_ENST00000530250.1_Intron NM_148963.2 NP_683766.2 Q5T6X5 GPC6A_HUMAN G protein-coupled receptor, family C, group 6, member A 408 response to amino acid stimulus G-protein coupled receptor activity autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3) 65 all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234) GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07) AGTCCTGGCTCAGCATAGTCC 0.458000 25 77 0 0 1 0 0 PGLYRP3 114771 broad.mit.edu 37 1 153276430 153276430 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:153276430G>A ENST00000290722.1 - 4 484 c.432C>T c.(430-432)gcC>gcT p.A144A NM_052891.1 NP_443123.1 Q96LB9 PGRP3_HUMAN peptidoglycan recognition protein 3 144 defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process extracellular region|intracellular|membrane N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(1)|liver(1)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1) 28 all_lung(78;3.35e-32)|Lung NSC(65;1.22e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.171) CCTTCTGGATGGCATAGGAGA 0.527000 28 93 0 0 1 0 0 PI4K2B 55300 broad.mit.edu 37 4 25278676 25278676 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:25278676C>T ENST00000264864.6 + 10 1502 c.1313C>T c.(1312-1314)cCt>cTt p.P438L PI4K2B_ENST00000512921.1_Missense_Mutation_p.P342L NM_018323.3 NP_060793.2 Q8TCG2 P4K2B_HUMAN phosphatidylinositol 4-kinase type 2 beta 438 cytoplasm|membrane 1-phosphatidylinositol 4-kinase activity|ATP binding endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(3)|skin(3) 15 Breast(46;0.173) GGGAAGAGTCCTTTCCAGCTA 0.438000 37 69 0 0 1 0 0 TACC2 10579 broad.mit.edu 37 10 123843008 123843008 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:123843008G>A ENST00000369005.1 + 4 1333 c.993G>A c.(991-993)gaG>gaA p.E331E TACC2_ENST00000358010.1_Intron|TACC2_ENST00000515603.1_Silent_p.E331E|TACC2_ENST00000334433.3_Silent_p.E331E|TACC2_ENST00000515273.1_Silent_p.E331E|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000453444.2_Silent_p.E331E NM_206862.2 NP_996744.2 O95359 TACC2_HUMAN transforming, acidic coiled-coil containing protein 2 331 microtubule organizing center|nucleus nuclear hormone receptor binding NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 83 all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197) CTTCCCAGGAGAGCTGCCAGC 0.607000 38 74 0 0 1 0 0 CA11 770 broad.mit.edu 37 19 49147777 49147777 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:49147777C>T ENST00000084798.4 - 3 871 c.192G>A c.(190-192)gtG>gtA p.V64V SEC1P_ENST00000430145.2_RNA NM_001217.3 NP_001208.2 O75493 CAH11_HUMAN carbonic anhydrase XI 64 extracellular region breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8) 14 all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) OV - Ovarian serous cystadenocarcinoma(262;0.000103)|all cancers(93;0.000119)|GBM - Glioblastoma multiforme(486;0.00634)|Epithelial(262;0.016) GCCGCTTCCCCACAGCACACA 0.587000 22 29 0 0 1 0 0 CGNL1 84952 broad.mit.edu 37 15 57734622 57734622 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr15:57734622G>A ENST00000281282.5 + 4 1827 c.1749G>A c.(1747-1749)gaG>gaA p.E583E NM_001252335.1|NM_032866.4 NP_001239264.1|NP_116255.2 Q0VF96 CGNL1_HUMAN cingulin-like 1 583 myosin complex|tight junction motor activity autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1) 60 all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186) TGGTCTTTGAGAAAATCCAGA 0.418000 31 72 0 0 1 0 0 PDCL3 79031 broad.mit.edu 37 2 101192947 101192947 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:101192947G>A ENST00000264254.6 + 6 1087 c.709G>A c.(709-711)Gag>Aag p.E237K NM_024065.4 NP_076970.1 Q9H2J4 PDCL3_HUMAN phosducin-like 3 237 apoptosis|interspecies interaction between organisms cytoplasm protein binding endometrium(3)|large_intestine(2)|liver(1)|lung(6) 12 CAGCGATTCCGAGGGTGACTG 0.458000 15 59 0 0 1 0 0 GABRB1 2560 broad.mit.edu 37 4 47322179 47322179 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:47322179G>A ENST00000295454.3 + 5 789 c.497G>A c.(496-498)cGa>cAa p.R166Q GABRB1_ENST00000538619.1_Missense_Mutation_p.R96Q NM_000812.3 NP_000803.2 P18505 GBRB1_HUMAN gamma-aminobutyric acid (GABA) A receptor, beta 1 166 synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683) ATGGATCTTCGAAGATATCCA 0.418000 18 83 0 0 1 0 0 LRRC15 131578 broad.mit.edu 37 3 194080442 194080442 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:194080442C>T ENST00000347624.3 - 2 1416 c.1331G>A c.(1330-1332)aGg>aAg p.R444K LRRC15_ENST00000428839.1_Missense_Mutation_p.R450K|LRRC15_ENST00000439944.2_Missense_Mutation_p.R450K NM_130830.4 NP_570843.2 Q8TF66 LRC15_HUMAN leucine rich repeat containing 15 444 LRRCT. integral to membrane biliary_tract(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(20)|ovary(4)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 all_cancers(143;5.31e-09)|Ovarian(172;0.0634) OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;4.94e-05) CGTCCCTAACCTAGGCTGGTT 0.552000 19 37 0 0 1 0 0 KIF19 124602 broad.mit.edu 37 17 72338046 72338046 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:72338046C>T ENST00000389916.4 + 3 290 c.152C>T c.(151-153)cCc>cTc p.P51L NM_153209.3 NP_694941.2 Q2TAC6 KIF19_HUMAN kinesin family member 19 51 Kinesin-motor. microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 41 ATGGAGGATCCCGACGACATC 0.652000 48 231 0 0 1 0 0 PLAG1 5324 broad.mit.edu 37 8 57079731 57079731 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:57079731G>A ENST00000316981.3 - 5 1053 c.574C>T c.(574-576)Cgc>Tgc p.R192C PLAG1_ENST00000429357.2_Missense_Mutation_p.R192C|PLAG1_ENST00000423799.2_Missense_Mutation_p.R110C NM_001114634.1|NM_002655.2 NP_001108106.1|NP_002646.2 Q6DJT9 PLAG1_HUMAN pleiomorphic adenoma gene 1 192 Decreased nuclear import with localization in the nucleus but also in the cytoplasm. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding CTNNB1/PLAG1(60)|LIFR_ENST00000263409/PLAG1(10)|HAS2/PLAG1(10)|FGFR1_ENST00000447712/PLAG1(28)|COL1A2/PLAG1(3)|CHCHD7/PLAG1(12)|TCEA1_ENST00000521604/PLAG1(3) breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(7)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 28 all_lung(136;0.0548)|Lung NSC(129;0.0718)|all_epithelial(80;0.125) Epithelial(17;0.00179)|all cancers(17;0.0125) TAGAACCGGCGATCACAATGT 0.493000 T """TCEA1, LIFR, CTNNB1, CHCHD7""" salivary adenoma 28 42 0 0 1 0 0 LRP3 4037 broad.mit.edu 37 19 33698321 33698321 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:33698321G>A ENST00000253193.7 + 7 2355 c.2153G>A c.(2152-2154)cGg>cAg p.R718Q NM_002333.3 NP_002324.2 O75074 LRP3_HUMAN low density lipoprotein receptor-related protein 3 718 receptor-mediated endocytosis coated pit|integral to membrane receptor activity breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2) 15 Esophageal squamous(110;0.137) GATGCACCTCGGGAGCCCTGC 0.697000 14 14 0 0 1 0 0 COL3A1 1281 broad.mit.edu 37 2 189870933 189870933 + Splice_Site SNP G G A rs121912916 TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:189870933G>A ENST00000304636.3 + 42 3211 c.3039_splice c.e42-1 p.G1014_splice COL3A1_ENST00000317840.5_Intron NM_000090.3 NP_000081.1 P02461 CO3A1_HUMAN collagen, type III, alpha 1 1014 Triple-helical region. G -> E (in EDS4). axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway collagen type III|extracellular space extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3) 126 OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141) Collagenase(DB00048)|Palifermin(DB00039) TTTAATCAGGGAAACCCTGGA 0.388000 26 50 0 0 1 0 0 SIGLEC10 89790 broad.mit.edu 37 19 51917721 51917721 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:51917721C>T ENST00000353836.5 - 8 1600 c.1379G>A c.(1378-1380)gGa>gAa p.G460E SIGLEC10_ENST00000432469.2_Missense_Mutation_p.G377E|SIGLEC10_ENST00000439889.2_Missense_Mutation_p.G497E|SIGLEC10_ENST00000339313.5_Missense_Mutation_p.G555E|SIGLEC10_ENST00000441969.3_Missense_Mutation_p.G402E|SIGLEC10_ENST00000442846.3_Missense_Mutation_p.G312E|SIGLEC10_ENST00000356298.5_Missense_Mutation_p.G555E|SIGLEC10_ENST00000436984.2_Missense_Mutation_p.G412E|SIGLEC10_ENST00000525998.1_Missense_Mutation_p.G370E|CTD-2616J11.3_ENST00000532473.1_RNA NM_001171157.1|NM_001171158.1|NM_001171159.1 NP_001164628.1|NP_001164629.1|NP_001164630.1 Q96LC7 SIG10_HUMAN sialic acid binding Ig-like lectin 10 555 cell adhesion extracellular region|integral to membrane|plasma membrane sugar binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(27)|ovary(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101) GATGCCGATTCCCAGAAACGC 0.587000 18 37 0 0 1 0 0 PTCHD3 374308 broad.mit.edu 37 10 27687638 27687638 + Missense_Mutation SNP C C T rs142594066 byFrequency TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:27687638C>T ENST00000438700.3 - 4 2006 c.1889G>A c.(1888-1890)cGa>cAa p.R630Q NM_001034842.3 NP_001030014.2 Q3KNS1 PTHD3_HUMAN patched domain containing 3 630 spermatid development integral to membrane hedgehog receptor activity NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3) 55 TGCCAGATTTCGAAGGTCTAA 0.358000 33 67 0 0 1 0 0 TENM1 10178 broad.mit.edu 37 X 124029895 124029895 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chrX:124029895C>T ENST00000422452.2 - 2 476 c.413G>A c.(412-414)aGc>aAc p.S138N TENM1_ENST00000371130.3_Missense_Mutation_p.S138N NM_001163278.1|NM_001163279.1 NP_001156750.1|NP_001156751.1 teneurin transmembrane protein 1 GTTGGCCCGGCTGGACAAACA 0.438000 119 62 0 0 1 0 0 TMEM63C 57156 broad.mit.edu 37 14 77710772 77710772 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr14:77710772C>T ENST00000298351.4 + 16 1566 c.1422C>T c.(1420-1422)tcC>tcT p.S474S NM_020431.2 NP_065164.2 Q9P1W3 TM63C_HUMAN transmembrane protein 63C 474 integral to membrane breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(1) 23 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0342) TCTACTTCTCCGCCTTCCTCG 0.622000 59 127 0 0 1 0 0 USPL1 10208 broad.mit.edu 37 13 31205467 31205467 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr13:31205467C>T ENST00000255304.4 + 4 1066 c.724C>T c.(724-726)Ctg>Ttg p.L242L USPL1_ENST00000465952.1_3'UTR NM_005800.4 NP_005791.3 Q5W0Q7 USPL1_HUMAN ubiquitin specific peptidase like 1 242 ubiquitin-dependent protein catabolic process ubiquitin thiolesterase activity breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(15)|pancreas(3)|skin(3) 34 Lung SC(185;0.0257)|Breast(139;0.203) all cancers(112;0.0306)|Epithelial(112;0.131)|OV - Ovarian serous cystadenocarcinoma(117;0.134) AGACTGTATCCTGTCAGCTTT 0.433000 5 130 0 0 1 0 0 MST1L 11223 broad.mit.edu 37 1 17084464 17084464 + RNA SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:17084464G>A ENST00000455405.2 - 0 425 GACAAGCTGGGAGCCTGAGGG 0.597000 18 128 0 0 1 0 0 CCNA1 8900 broad.mit.edu 37 13 37011810 37011810 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr13:37011810C>T ENST00000418263.1 + 3 689 c.339C>T c.(337-339)ttC>ttT p.F113F CCNA1_ENST00000440264.1_Silent_p.F70F|CCNA1_ENST00000463403.1_3'UTR|CCNA1_ENST00000449823.1_Silent_p.F70F|CCNA1_ENST00000255465.4_Silent_p.F114F NM_001111045.1|NM_003914.3 NP_001104515.1|NP_003905.1 P78396 CCNA1_HUMAN cyclin A1 114 cell division|G2/M transition of mitotic cell cycle|male meiosis I|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|spermatogenesis cytosol|microtubule cytoskeleton|nucleoplasm protein kinase binding breast(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1) 35 Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174) KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169) all cancers(112;1.91e-07)|Epithelial(112;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0119)|GBM - Glioblastoma multiforme(144;0.0242) AAAATGCCTTCCCTCCAGCTG 0.483000 59 110 0 0 1 0 0 ARHGDIB 397 broad.mit.edu 37 12 15103514 15103514 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:15103514G>A ENST00000228945.4 - 2 277 c.133C>T c.(133-135)Cta>Tta p.L45L ARHGDIB_ENST00000541546.1_Silent_p.L45L|ARHGDIB_ENST00000541644.1_Silent_p.L45L NM_001175.4 NP_001166.3 P52566 GDIR2_HUMAN Rho GDP dissociation inhibitor (GDI) beta 45 actin cytoskeleton organization|cellular component movement|immune response|multicellular organismal development|negative regulation of cell adhesion|regulation of small GTPase mediated signal transduction|Rho protein signal transduction cytoplasmic membrane-bounded vesicle|cytoskeleton|cytosol GTPase activator activity|Rho GDP-dissociation inhibitor activity breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(1) 15 TACTTAATTAGACTCTCATCA 0.483000 40 145 0 0 1 0 0 GPR98 84059 broad.mit.edu 37 5 89949301 89949301 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:89949301C>T ENST00000405460.2 + 20 4006 c.3910C>T c.(3910-3912)Ctg>Ttg p.L1304L NM_032119.3 NP_115495.3 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 1304 cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6) 269 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) AGATTTTTTACTGGTTGGAAT 0.488000 15 46 0 0 1 0 0 SLITRK3 22865 broad.mit.edu 37 3 164906782 164906782 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:164906782C>T ENST00000475390.1 - 2 2280 c.1837G>A c.(1837-1839)Gag>Aag p.E613K SLITRK3_ENST00000241274.3_Missense_Mutation_p.E613K O94933 SLIK3_HUMAN SLIT and NTRK-like family, member 3 613 LRRCT 2. integral to membrane NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5) 119 TGCAGCATCTCTGGGCAAAGA 0.542000 HNSCC(40;0.11) 16 36 0 0 1 0 0 IGSF5 150084 broad.mit.edu 37 21 41137755 41137755 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr21:41137755G>A ENST00000380588.4 + 3 497 c.394G>A c.(394-396)Gga>Aga p.G132R IGSF5_ENST00000479378.1_3'UTR NM_001080444.1 NP_001073913.1 Q9NSI5 IGSF5_HUMAN immunoglobulin superfamily, member 5 132 Ig-like V-type 1. integral to membrane|tight junction breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(7)|skin(2)|stomach(1) 23 Prostate(19;5.35e-06) TCGCCTGCATGGATCTGCTTA 0.532000 9 25 0 0 1 0 0 WNK4 65266 broad.mit.edu 37 17 40947213 40947213 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:40947213C>T ENST00000246914.5 + 14 2795 c.2774C>T c.(2773-2775)tCt>tTt p.S925F NM_032387.4 NP_115763.2 Q96J92 WNK4_HUMAN WNK lysine deficient protein kinase 4 925 intracellular protein kinase cascade tight junction ATP binding|protein serine/threonine kinase activity NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1) 35 Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.0749) CCTCTCCTTTCTCTGGCTAGT 0.587000 84 143 0 0 1 0 0 DIO3 1735 broad.mit.edu 37 14 102028731 102028731 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr14:102028731C>T ENST00000510508.4 + 1 1044 c.898C>T c.(898-900)Cgg>Tgg p.R300W DIO3_ENST00000359323.3_Missense_Mutation_p.R274W P55073 IOD3_HUMAN deiodinase, iodothyronine, type III 274 cellular nitrogen compound metabolic process|hormone biosynthetic process endosome membrane|integral to membrane|plasma membrane thyroxine 5'-deiodinase activity|thyroxine 5-deiodinase activity central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(3)|skin(1) 22 all_neural(303;0.185) GCACGGCGCTCGGCCCCGGAG 0.602000 25 55 0 0 1 0 0 COL4A1 1282 broad.mit.edu 37 13 110804749 110804749 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr13:110804749C>T ENST00000375820.4 - 51 4981 c.4860G>A c.(4858-4860)ggG>ggA p.G1620G NM_001845.4 NP_001836.2 P02462 CO4A1_HUMAN collagen, type IV, alpha 1 1620 Collagen IV NC1. angiogenesis|axon guidance extracellular matrix structural constituent|platelet-derived growth factor binding breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 105 all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604) Breast(118;0.2) BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145) AATTGCAGGTCCCACGGCCGT 0.582000 10 76 0 0 1 0 0 MTUS2 23281 broad.mit.edu 37 13 29600690 29600690 + Nonsense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr13:29600690C>T ENST00000431530.3 + 1 1943 c.1885C>T c.(1885-1887)Cag>Tag p.Q629* NM_001033602.2 NP_001028774.2 Q5JR59 MTUS2_HUMAN microtubule associated tumor suppressor candidate 2 619 cytoplasm|microtubule microtubule binding|protein homodimerization activity NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1) 20 GGAGAACTATCAGGTTGAAAA 0.507000 12 43 0 0 1 0 0 CTTNBP2 83992 broad.mit.edu 37 7 117400742 117400742 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:117400742C>T ENST00000160373.3 - 10 3010 c.2919G>A c.(2917-2919)agG>agA p.R973R NM_033427.2 NP_219499.1 Q8WZ74 CTTB2_HUMAN cortactin binding protein 2 973 breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 83 Lung NSC(10;0.0018)|all_lung(10;0.002) LUSC - Lung squamous cell carcinoma(290;0.133) CCACTGAAATCCTTAAGGGTA 0.328000 10 168 0 0 1 0 0 TNFAIP3 7128 broad.mit.edu 37 6 138196884 138196884 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:138196884C>T ENST00000237289.4 + 4 612 c.546C>T c.(544-546)gcC>gcT p.A182A NM_001270507.1|NM_001270508.1|NM_006290.3 NP_001257436.1|NP_001257437.1|NP_006281.1 P21580 TNAP3_HUMAN tumor necrosis factor, alpha-induced protein 3 182 OTU.|TRAF-binding. anti-apoptosis|apoptosis|B-1 B cell homeostasis|negative regulation of B cell activation|negative regulation of bone resorption|negative regulation of CD40 signaling pathway|negative regulation of endothelial cell apoptosis|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of inflammatory response|negative regulation of interleukin-2 production|negative regulation of interleukin-6 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of osteoclast proliferation|negative regulation of protein ubiquitination|negative regulation of smooth muscle cell proliferation|negative regulation of toll-like receptor 2 signaling pathway|negative regulation of toll-like receptor 3 signaling pathway|negative regulation of tumor necrosis factor production|negative regulation of type I interferon production|positive regulation of protein catabolic process|protein K48-linked ubiquitination|protein K63-linked deubiquitination|protein oligomerization|regulation of defense response to virus by host|regulation of germinal center formation|regulation of vascular wound healing|tolerance induction to lipopolysaccharide centrosome|cytosol|nucleus caspase inhibitor activity|DNA binding|protease binding|protein self-association|ubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-protein ligase activity|ubiquitin-specific protease activity|zinc ion binding p.0?(25) breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(196)|kidney(1)|large_intestine(4)|lung(13)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1) 225 Breast(32;0.135)|Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.000849)|OV - Ovarian serous cystadenocarcinoma(155;0.00468) CACCCATGGCCCGAAGTGGAC 0.443000 """D, N, F""" """marginal zone B-cell lymphomas, Hodgkin's lymphoma, primary mediastinal B cell lymphoma""" 42 92 0 0 1 0 0 DNAH17 8632 broad.mit.edu 37 17 76562747 76562747 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:76562747C>T ENST00000389840.5 - 11 1642 c.1518G>A c.(1516-1518)acG>acA p.T506T DNAH17_ENST00000585328.1_Silent_p.T506T dynein, axonemal, heavy chain 17 NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 116 BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656) GGCAAAAGATCGTGGCCAGCC 0.463000 5 22 0 0 1 0 0 SEMA3E 9723 broad.mit.edu 37 7 82997096 82997096 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:82997096C>T ENST00000307792.3 - 17 2601 c.2134G>A c.(2134-2136)Gaa>Aaa p.E712K SEMA3E_ENST00000427262.1_Missense_Mutation_p.E652K NM_012431.2 NP_036563.1 O15041 SEM3E_HUMAN sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E 712 axon guidance extracellular space|membrane receptor activity breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3) 51 Medulloblastoma(109;0.109) TGCAAGAATTCCTTGTACCAT 0.458000 5 266 0 0 1 0 0 RBMS2 5939 broad.mit.edu 37 12 56975915 56975915 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:56975915C>T ENST00000262031.5 + 9 947 c.852C>T c.(850-852)tcC>tcT p.S284S RBMS2_ENST00000552247.2_Silent_p.S284S|RBMS2_ENST00000550726.1_Silent_p.S159S|RBMS2_ENST00000542360.1_Silent_p.S139S NM_002898.3 NP_002889.1 Q15434 RBMS2_HUMAN RNA binding motif, single stranded interacting protein 2 284 RNA processing nucleus nucleotide binding|RNA binding breast(1)|endometrium(1)|large_intestine(2)|lung(8)|prostate(3)|skin(2)|urinary_tract(1) 18 CATACCTTTCCTCTCCTGTGT 0.468000 60 82 0 0 1 0 0 NEB 4703 broad.mit.edu 37 2 152381110 152381110 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:152381110G>A ENST00000397345.3 - 152 22495 c.22293C>T c.(22291-22293)gcC>gcT p.A7431A NEB_ENST00000604864.1_Silent_p.A7431A|NEB_ENST00000603639.1_Silent_p.A7431A|NEB_ENST00000172853.10_Silent_p.A5730A|NEB_ENST00000427231.2_Silent_p.A7431A|NEB_ENST00000409198.1_Silent_p.A5730A NM_001164508.1 NP_001157980.1 P20929 NEBU_HUMAN nebulin 5730 muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development actin cytoskeleton|cytosol|Z disc actin binding|structural constituent of muscle NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2) 301 BRCA - Breast invasive adenocarcinoma(221;0.219) GGTTCTCTTTGGCATCTTTTC 0.398000 18 270 0 0 1 0 0 KRT4 3851 broad.mit.edu 37 12 53207522 53207522 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:53207522C>T ENST00000293774.4 - 1 813 c.543G>A c.(541-543)ggG>ggA p.G181G KRT4_ENST00000551956.1_Silent_p.G107G|KRT4_ENST00000458244.2_Silent_p.G87G B4DRS2 B4DRS2_HUMAN keratin 4 107 keratin filament structural molecule activity endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|prostate(2)|skin(2) 29 CCTGAATTCCCCCAGCGGGGC 0.612000 13 159 0 0 1 0 0 PCDHGA6 56109 broad.mit.edu 37 5 140755021 140755021 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:140755021C>T ENST00000517434.1 + 1 1371 c.1371C>T c.(1369-1371)taC>taT p.Y457Y PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA3_ENST00000253812.6_Intron NM_018919.2|NM_032086.1 NP_061742.1|NP_114475.1 breast(1)|large_intestine(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ATTCATCCTACTCAGTCTATG 0.527000 13 235 0 0 1 0 0 DLG5 9231 broad.mit.edu 37 10 79603320 79603320 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:79603320G>A ENST00000372391.2 - 6 1014 c.1009C>T c.(1009-1011)Cgc>Tgc p.R337C DLG5_ENST00000372388.2_Missense_Mutation_p.R337C NM_004747.3 NP_004738.3 Q8TDM6 DLG5_HUMAN discs, large homolog 5 (Drosophila) 337 cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis cell junction|cytoplasm beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 60 all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146) Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446) TGCTCCAGGCGGCTCAGGTCT 0.597000 11 242 0 0 1 0 0 SELL 6402 broad.mit.edu 37 1 169673741 169673741 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:169673741C>T ENST00000236147.4 - 5 933 c.773G>A c.(772-774)gGa>gAa p.G258E SELL_ENST00000463108.1_5'UTR|C1orf112_ENST00000498289.1_Intron NM_000655.4 NP_000646.2 P14151 LYAM1_HUMAN selectin L 245 Sushi 2. blood coagulation|cell adhesion|leukocyte migration|regulation of immune response integral to plasma membrane glycosphingolipid binding|heparin binding|protease binding|sugar binding NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(3)|lung(5)|urinary_tract(1) 15 all_hematologic(923;0.208) TGACCAGTTTCCAAATGGTCC 0.463000 5 17 0 0 1 0 0 CD163 9332 broad.mit.edu 37 12 7637852 7637852 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:7637852C>T ENST00000359156.4 - 11 2821 c.2619G>A c.(2617-2619)ggG>ggA p.G873G CD163_ENST00000432237.2_Silent_p.G873G|CD163_ENST00000396620.3_Silent_p.G906G|CD163_ENST00000539632.1_5'UTR|CD163_ENST00000541972.1_Silent_p.G861G NM_004244.5 NP_004235.4 Q86VB7 C163A_HUMAN CD163 molecule 873 SRCR 8. acute-phase response extracellular region|integral to plasma membrane protein binding|scavenger receptor activity breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4) 76 GGTTGATTTTCCCTTTGTCTG 0.512000 54 89 0 0 1 0 0 INHBA 3624 broad.mit.edu 37 7 41729961 41729961 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:41729961C>T ENST00000242208.4 - 3 814 c.568G>A c.(568-570)Gaa>Aaa p.E190K AC005027.3_ENST00000416150.1_RNA|INHBA_ENST00000442711.1_Missense_Mutation_p.E190K|INHBA_ENST00000464515.1_5'UTR NM_002192.2 NP_002183.1 P08476 INHBA_HUMAN inhibin, beta A 190 cell cycle arrest|cell surface receptor linked signaling pathway|defense response|erythrocyte differentiation|eyelid development in camera-type eye|G1/S transition of mitotic cell cycle|growth|hair follicle development|hemoglobin biosynthetic process|hemopoietic progenitor cell differentiation|induction of apoptosis|male gonad development|negative regulation of B cell differentiation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|odontogenesis|ovarian follicle development|palate development|positive regulation of erythrocyte differentiation|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation|positive regulation of transcription from RNA polymerase II promoter|progesterone secretion|regulation of activin receptor signaling pathway activin A complex|inhibin A complex cytokine activity|follistatin binding|growth factor activity|hormone activity|identical protein binding|signal transducer activity biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(15)|lung(26)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 55 TCGGCCTCTTCCCCTGTGTCC 0.567000 TSP Lung(11;0.080) 51 81 0 0 1 0 0 ITGA11 22801 broad.mit.edu 37 15 68631978 68631978 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr15:68631978C>T ENST00000423218.2 - 11 1231 c.1136G>A c.(1135-1137)gGg>gAg p.G379E ITGA11_ENST00000315757.7_Missense_Mutation_p.G379E Q9UKX5 ITA11_HUMAN integrin, alpha 11 379 cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development integrin complex collagen binding|receptor activity p.G379V(1) NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(6)|lung(22)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 52 Tirofiban(DB00775) CAGCAGAACCCCATCCTGGCA 0.597000 16 53 0 0 1 0 0 TNFRSF10D 8793 broad.mit.edu 37 8 23002047 23002047 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:23002047G>A ENST00000312584.3 - 7 964 c.870C>T c.(868-870)gtC>gtT p.V290V NM_003840.4 NP_003831.2 Q9UBN6 TR10D_HUMAN tumor necrosis factor receptor superfamily, member 10d, decoy with truncated death domain 290 anti-apoptosis|apoptosis integral to membrane TRAIL binding|transmembrane receptor activity p.V290V(2) endometrium(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 9 Prostate(55;0.0421)|Breast(100;0.067) Colorectal(74;0.0147)|COAD - Colon adenocarcinoma(73;0.0612) CCTGCTCAGAGACCTGGGTGG 0.577000 9 94 0 0 1 0 0 TNRC6B 23112 broad.mit.edu 37 22 40657902 40657902 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr22:40657902C>T ENST00000454349.2 + 4 393 c.182C>T c.(181-183)tCg>tTg p.S61L TNRC6B_ENST00000402203.1_Missense_Mutation_p.S97L|TNRC6B_ENST00000335727.8_Missense_Mutation_p.S61L|TNRC6B_ENST00000301923.9_Missense_Mutation_p.S97L NM_001162501.1 NP_001155973.1 Q9UPQ9 TNR6B_HUMAN trinucleotide repeat containing 6B 61 gene silencing by RNA|regulation of translation cytoplasmic mRNA processing body nucleotide binding|RNA binding breast(1) 1 AGCTCTCCATCGCCACCAGTC 0.587000 4 70 0 0 1 0 0 PLG 5340 broad.mit.edu 37 6 161152809 161152809 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:161152809G>A ENST00000308192.9 + 12 1534 c.1471G>A c.(1471-1473)Ggc>Agc p.G491S NM_000301.3 NP_000292.1 P00747 PLMN_HUMAN plasminogen 491 Kringle 5. extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen apolipoprotein binding|cell surface binding|serine-type endopeptidase activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1) 59 OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06) Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013) AGGATACCGAGGCAAGAGGGC 0.512000 44 110 0 0 1 0 0 FGFRL1 53834 broad.mit.edu 37 4 1017870 1017870 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:1017870C>T ENST00000398484.2 + 6 1279 c.699C>T c.(697-699)acC>acT p.T233T FGFRL1_ENST00000504138.1_Silent_p.T233T|FGFRL1_ENST00000510644.1_Silent_p.T233T|FGFRL1_ENST00000264748.6_Silent_p.T233T Q8N441 FGRL1_HUMAN fibroblast growth factor receptor-like 1 233 Ig-like C2-type 2. regulation of cell growth integral to membrane|plasma membrane fibroblast growth factor receptor activity|heparin binding endometrium(1)|lung(9)|ovary(1)|prostate(1)|skin(1) 13 OV - Ovarian serous cystadenocarcinoma(23;0.0158) TCAACGCCACCTACAAGGTGG 0.711000 8 16 0 0 1 0 0 CARD11 84433 broad.mit.edu 37 7 2977629 2977629 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:2977629G>A ENST00000396946.4 - 8 1458 c.1055C>T c.(1054-1056)tCg>tTg p.S352L NM_032415.4 NP_115791.3 Q9BXL7 CAR11_HUMAN caspase recruitment domain family, member 11 352 positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway cytosol|membrane raft|plasma membrane CARD domain binding|guanylate kinase activity NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2) 150 Ovarian(82;0.0115) OV - Ovarian serous cystadenocarcinoma(56;8.44e-14) TCCCAGGGTCGAGCACTTGAG 0.547000 Mis DLBCL 44 141 0 0 1 0 0 FAT3 120114 broad.mit.edu 37 11 92533997 92533997 + Missense_Mutation SNP A A C TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:92533997A>C ENST00000298047.6 + 9 7835 c.7818A>C c.(7816-7818)agA>agC p.R2606S FAT3_ENST00000409404.2_Missense_Mutation_p.R2606S|FAT3_ENST00000525166.1_Missense_Mutation_p.R2456S Q8TDW7 FAT3_HUMAN FAT atypical cadherin 3 2606 Cadherin 24. homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 85 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) TGGAATATAGAGCCAGTGTCA 0.478000 TCGA Ovarian(4;0.039) 9 41 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179585377 179585377 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:179585377G>A ENST00000589042.1 - 80 23336 c.23112C>T c.(23110-23112)ttC>ttT p.F7704F TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Silent_p.F7387F|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Silent_p.F6460F|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 7387 Ig-like 59. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GCTTCTGGGTGAAAACAGGAG 0.388000 12 29 0 0 1 0 0 POTEA 340441 broad.mit.edu 37 8 43212021 43212021 + RNA SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:43212021C>T ENST00000522175.2 + 0 1344 Q6S8J7 POTEA_HUMAN POTE ankyrin domain family, member A breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(27)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 46 AAATATGGTTCATGTACTACA 0.368000 20 46 0 0 1 0 0 GORAB 92344 broad.mit.edu 37 1 170508536 170508536 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:170508536C>T ENST00000367763.3 + 2 342 c.322C>T c.(322-324)Cct>Tct p.P108S GORAB_ENST00000367762.1_Missense_Mutation_p.P108S|GORAB_ENST00000465717.1_3'UTR NM_152281.2 NP_689494.2 Q5T7V8 GORAB_HUMAN golgin, RAB6-interacting 108 Golgi apparatus|nucleus endometrium(2)|large_intestine(3)|liver(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1) 17 TTTTTCTTCCCCTACTCTTCC 0.468000 44 130 0 0 1 0 0 C14orf159 80017 broad.mit.edu 37 14 91636449 91636449 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr14:91636449C>T ENST00000518868.1 + 8 1050 c.360C>T c.(358-360)ttC>ttT p.F120F C14orf159_ENST00000525393.2_Silent_p.F4F|C14orf159_ENST00000520328.1_Silent_p.F120F|C14orf159_ENST00000256324.10_Silent_p.F120F|C14orf159_ENST00000523771.1_Silent_p.F120F|C14orf159_ENST00000522322.1_Silent_p.F120F|C14orf159_ENST00000412671.2_Silent_p.F120F|C14orf159_ENST00000428926.2_Silent_p.F120F|C14orf159_ENST00000521077.2_Silent_p.F120F|C14orf159_ENST00000523816.1_Silent_p.F120F Q7Z3D6 CN159_HUMAN chromosome 14 open reading frame 159 120 mitochondrion NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 21 all_cancers(154;0.0191)|all_epithelial(191;0.241) Epithelial(152;0.141)|OV - Ovarian serous cystadenocarcinoma(161;0.207) TGGTGGCCTTCTTCCTGGGCT 0.622000 40 77 0 0 1 0 0 CACNA1S 779 broad.mit.edu 37 1 201009359 201009359 + Splice_Site SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:201009359C>T ENST00000362061.3 - 43 5596 c.5370_splice c.e43+1 p.K1790_splice CACNA1S_ENST00000367338.3_Splice_Site_p.K1771_splice|RP11-168O16.2_ENST00000415359.1_RNA NM_000069.2 NP_000060.2 Q13698 CAC1S_HUMAN calcium channel, voltage-dependent, L type, alpha 1S subunit 1790 axon guidance I band|T-tubule|voltage-gated calcium channel complex high voltage-gated calcium channel activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 102 Magnesium Sulfate(DB00653)|Verapamil(DB00661) CCTGGCTCACCTTTTGGATCA 0.612000 19 66 0 0 1 0 0 TRAV34 28648 broad.mit.edu 37 14 22675471 22675471 + RNA SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr14:22675471C>T ENST00000390461.2 + 0 54 TATTGGGGTTCCAAGCAGCCT 0.478000 19 52 0 0 1 0 0 TMEM200A 114801 broad.mit.edu 37 6 130762051 130762051 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:130762051G>A ENST00000392429.1 + 2 2862 c.484G>A c.(484-486)Gat>Aat p.D162N TMEM200A_ENST00000545622.1_Missense_Mutation_p.D162N|TMEM200A_ENST00000296978.3_Missense_Mutation_p.D162N NM_052913.2 NP_443145.1 Q86VY9 T200A_HUMAN transmembrane protein 200A 162 integral to membrane NS(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(30)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 52 GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12) ACACATGAGGGATATCTATTC 0.408000 41 80 0 0 1 0 0 ZNF862 643641 broad.mit.edu 37 7 149558416 149558416 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:149558416C>T ENST00000223210.4 + 7 2412 c.2167C>T c.(2167-2169)Cac>Tac p.H723Y NM_001099220.1 NP_001092690.1 O60290 ZN862_HUMAN zinc finger protein 862 723 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|nucleic acid binding|protein dimerization activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(1) 34 GCTGCCTGTCCACTGCGTGGC 0.632000 28 38 0 0 1 0 0 C8orf34 116328 broad.mit.edu 37 8 69552672 69552672 + Silent SNP T T C TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:69552672T>C ENST00000337103.4 + 7 2426 c.834T>C c.(832-834)ttT>ttC p.F278F C8orf34_ENST00000539993.1_Silent_p.F303F|C8orf34_ENST00000518698.1_Silent_p.F389F|C8orf34_ENST00000325233.3_Silent_p.F47F Q49A92 CH034_HUMAN chromosome 8 open reading frame 34 303 signal transduction cAMP-dependent protein kinase regulator activity NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(12)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 36 Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502) GGAGCAAATTTAACCAAGGCC 0.408000 5 120 0 0 1 0 0 TMEM37 140738 broad.mit.edu 37 2 120194575 120194575 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:120194575C>T ENST00000306406.4 + 2 167 c.132C>T c.(130-132)tcC>tcT p.S44S TMEM37_ENST00000465296.1_3'UTR|TMEM37_ENST00000409826.1_Silent_p.S56S NM_183240.2 NP_899063.2 Q8WXS4 CCGL_HUMAN transmembrane protein 37 44 integral to membrane calcium channel activity|voltage-gated ion channel activity breast(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1) 11 CCTCGGTCTCCATTTGTGATG 0.612000 14 268 0 0 1 0 0 OXCT1 5019 broad.mit.edu 37 5 41870438 41870438 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:41870438G>A ENST00000196371.5 - 1 183 c.23C>T c.(22-24)tCc>tTc p.S8F OXCT1-AS1_ENST00000508458.1_RNA NM_000436.3 NP_000427.1 P55809 SCOT1_HUMAN 3-oxoacid CoA transferase 1 8 cellular lipid metabolic process|ketone body catabolic process mitochondrial matrix 3-oxoacid CoA-transferase activity|protein homodimerization activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(2) 28 Succinic acid(DB00139) AAGCCCGGAGGAGAGGAGTTT 0.657000 12 62 0 0 1 0 0 TREML3P 340206 broad.mit.edu 37 6 41185404 41185404 + RNA SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:41185404C>T ENST00000564680.1 - 0 281 CAAACACCACCAGGCTGACAT 0.483000 15 19 0 0 1 0 0 FAM171B 165215 broad.mit.edu 37 2 187627229 187627229 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:187627229C>T ENST00000304698.5 + 8 2363 c.2160C>T c.(2158-2160)ctC>ctT p.L720L NM_177454.3 NP_803237.3 Q6P995 F171B_HUMAN family with sequence similarity 171, member B 720 integral to membrane DNA binding NS(1)|breast(6)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(22)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 54 GTAGAAAGCTCGAGAGGGAGA 0.458000 33 74 0 0 1 0 0 SYN2 6854 broad.mit.edu 37 3 12224844 12224844 + RNA SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:12224844G>A ENST00000432424.2 + 0 1513 Q86VA8 Q86VA8_HUMAN synapsin II neurotransmitter secretion synaptic vesicle ATP binding|ligase activity breast(5)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1) 18 ACTCAAGCAAGACCCCACCTC 0.448000 22 25 0 0 1 0 0 TPP1 1200 broad.mit.edu 37 11 6636759 6636759 + Nonsense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:6636759G>A ENST00000533371.1 - 9 1249 c.451C>T c.(451-453)Cag>Tag p.Q151* TPP1_ENST00000299427.6_Nonsense_Mutation_p.Q394* O14773 TPP1_HUMAN tripeptidyl peptidase I 394 bone resorption|cell death|lipid metabolic process|lysosome organization|nervous system development|neuromuscular process controlling balance|peptide catabolic process|protein catabolic process|proteolysis lysosome|melanosome|soluble fraction metal ion binding|peptide binding|protein binding|serine-type endopeptidase activity|tripeptidyl-peptidase activity breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(9)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 Medulloblastoma(188;0.00263)|all_neural(188;0.026) Epithelial(150;3.45e-09)|BRCA - Breast invasive adenocarcinoma(625;0.131) AAAGGTTCCTGGAAGGATGTG 0.512000 32 25 0 0 1 0 0 AGPAT9 84803 broad.mit.edu 37 4 84502714 84502714 + Splice_Site SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:84502714G>A ENST00000395226.2 + 4 426 c.e4-1 AGPAT9_ENST00000264409.4_Splice_Site NM_001256421.1 NP_001243350.1 Q53EU6 GPAT3_HUMAN 1-acylglycerol-3-phosphate O-acyltransferase 9 phospholipid biosynthetic process|regulation of TOR signaling cascade|triglyceride biosynthetic process endoplasmic reticulum membrane|integral to membrane glycerol-3-phosphate O-acyltransferase activity endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(3) 13 Hepatocellular(203;0.114) TTTCTTTTAAGGTATTATCCA 0.408000 54 88 0 0 1 0 0 ZC3HAV1 56829 broad.mit.edu 37 7 138764808 138764808 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:138764808G>A ENST00000242351.5 - 4 1195 c.879C>T c.(877-879)ctC>ctT p.L293L ZC3HAV1_ENST00000471652.1_Silent_p.L293L|ZC3HAV1_ENST00000464606.1_Silent_p.L293L NM_020119.3 NP_064504.2 Q7Z2W4 ZCCHV_HUMAN zinc finger CCCH-type, antiviral 1 293 response to virus cytoplasm|nucleus NAD+ ADP-ribosyltransferase activity|RNA binding|zinc ion binding cervix(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(4)|skin(1) 37 ACTTGCGGGTGAGATCGTCCA 0.597000 60 202 0 0 1 0 0 TBC1D1 23216 broad.mit.edu 37 4 38016446 38016446 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:38016446C>T ENST00000261439.4 + 3 1089 c.734C>T c.(733-735)gCc>gTc p.A245V TBC1D1_ENST00000508802.1_Missense_Mutation_p.A245V NM_001253914.1|NM_001253915.1|NM_015173.3 NP_001240843.1|NP_001240844.1|NP_055988.2 Q86TI0 TBCD1_HUMAN TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1 245 nucleus Rab GTPase activator activity NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1) 36 CGCTCGCTGGCCTTTAGGAAG 0.662000 15 40 0 0 1 0 0 MYH8 4626 broad.mit.edu 37 17 10314225 10314225 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:10314225C>T ENST00000403437.2 - 15 1550 c.1456G>A c.(1456-1458)Gag>Aag p.E486K CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA NM_002472.2 NP_002463.2 P13535 MYH8_HUMAN myosin, heavy chain 8, skeletal muscle, perinatal 486 Myosin head-like. muscle filament sliding cytosol|muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2) 134 TGCAGTTTCTCGTTGGTGAAG 0.403000 Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling 77 117 0 0 1 0 0 COL3A1 1281 broad.mit.edu 37 2 189862072 189862072 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:189862072G>A ENST00000304636.3 + 26 1996 c.1826G>A c.(1825-1827)gGa>gAa p.G609E COL3A1_ENST00000317840.5_Missense_Mutation_p.G609E NM_000090.3 NP_000081.1 P02461 CO3A1_HUMAN collagen, type III, alpha 1 609 Triple-helical region. axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway collagen type III|extracellular space extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3) 126 OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141) Collagenase(DB00048)|Palifermin(DB00039) GGTCCTCCTGGAAAGAATGGT 0.443000 25 66 0 0 1 0 0 MAML1 9794 broad.mit.edu 37 5 179201540 179201540 + Missense_Mutation SNP C C T rs61748800 byFrequency TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:179201540C>T ENST00000292599.3 + 5 2976 c.2713C>T c.(2713-2715)Cca>Tca p.P905S MAML1_ENST00000503050.1_Intron NM_014757.4 NP_055572.1 Q92585 MAML1_HUMAN mastermind-like 1 (Drosophila) 905 Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear speck peptide antigen binding|protein kinase binding|transcription coactivator activity central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 36 all_cancers(89;0.000197)|all_epithelial(37;6.7e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218) all_cancers(40;0.0308)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) CTTGCTACCCCCAGTGAGTGC 0.667000 15 39 0 0 1 0 0 PDE9A 5152 broad.mit.edu 37 21 44180965 44180965 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr21:44180965C>T ENST00000291539.6 + 13 1093 c.1033C>T c.(1033-1035)Cta>Tta p.L345L PDE9A_ENST00000470987.1_3'UTR|PDE9A_ENST00000398224.3_Silent_p.L218L|PDE9A_ENST00000328862.6_Silent_p.L319L|PDE9A_ENST00000398225.3_Silent_p.L304L|PDE9A_ENST00000398229.3_Silent_p.L211L|PDE9A_ENST00000539837.1_Silent_p.L217L|PDE9A_ENST00000398234.3_Silent_p.L244L|PDE9A_ENST00000398227.3_Silent_p.L185L|PDE9A_ENST00000380328.2_Silent_p.L292L|PDE9A_ENST00000398236.3_Silent_p.L259L|PDE9A_ENST00000349112.3_Silent_p.L217L|PDE9A_ENST00000398232.3_Silent_p.L278L|PDE9A_ENST00000335512.4_Silent_p.L285L|PDE9A_ENST00000335440.6_Silent_p.L243L NM_002606.2 NP_002597.1 O76083 PDE9A_HUMAN phosphodiesterase 9A 345 Catalytic (By similarity). platelet activation|signal transduction cytosol|endoplasmic reticulum|Golgi apparatus|perinuclear region of cytoplasm|ruffle membrane 3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding|protein binding breast(1)|endometrium(4)|large_intestine(6)|lung(8)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 27 TATCCTGATCCTAATGACAGC 0.512000 22 58 0 0 1 0 0 NCAPG2 54892 broad.mit.edu 37 7 158468333 158468333 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:158468333G>A ENST00000409339.3 - 12 1275 c.1162C>T c.(1162-1164)Cct>Tct p.P388S NCAPG2_ENST00000275830.10_Missense_Mutation_p.P180S|NCAPG2_ENST00000449727.2_Missense_Mutation_p.P388S|NCAPG2_ENST00000356309.3_Missense_Mutation_p.P388S|NCAPG2_ENST00000409423.1_Missense_Mutation_p.P388S Q86XI2 CNDG2_HUMAN non-SMC condensin II complex, subunit G2 388 cell division|chromosome condensation|mitosis nucleus methylated histone residue binding NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 39 Ovarian(565;0.152) all_cancers(7;3.44e-11)|all_epithelial(9;3.05e-05)|all_hematologic(28;0.014) OV - Ovarian serous cystadenocarcinoma(82;0.00174) UCEC - Uterine corpus endometrioid carcinoma (81;0.187)|STAD - Stomach adenocarcinoma(7;0.18) ATCGGGTAAGGATCTTCTAAA 0.448000 31 75 0 0 1 0 0 ZNF831 128611 broad.mit.edu 37 20 57767677 57767677 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr20:57767677C>T ENST00000371030.2 + 1 1603 c.1603C>T c.(1603-1605)Ccc>Tcc p.P535S NM_178457.1 NP_848552.1 Q5JPB2 ZN831_HUMAN zinc finger protein 831 535 intracellular nucleic acid binding|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3) 125 all_lung(29;0.0085) GCCTCTGAGCCCCAGGCCCGG 0.721000 12 11 0 0 1 0 0 NFX1 4799 broad.mit.edu 37 9 33342786 33342786 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:33342786C>T ENST00000379540.3 + 13 2220 c.2158C>T c.(2158-2160)Cgt>Tgt p.R720C NFX1_ENST00000379521.4_Missense_Mutation_p.R720C|NFX1_ENST00000318524.6_Missense_Mutation_p.R720C NM_002504.4 NP_002495.2 Q12986 NFX1_HUMAN nuclear transcription factor, X-box binding 1 720 inflammatory response|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter nucleus DNA binding|ligase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 25 LUSC - Lung squamous cell carcinoma(29;0.00506) GBM - Glioblastoma multiforme(74;0.224) GAGGAAACTCCGTTGTGGCCT 0.393000 7 15 0 0 1 0 0 MORC1 27136 broad.mit.edu 37 3 108682324 108682324 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:108682324G>A ENST00000232603.5 - 27 2818 c.2736C>T c.(2734-2736)atC>atT p.I912I MORC1_ENST00000483760.1_Silent_p.I891I NM_014429.3 NP_055244.3 Q86VD1 MORC1_HUMAN MORC family CW-type zinc finger 1 912 cell differentiation|multicellular organismal development|spermatogenesis nucleus ATP binding|zinc ion binding breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3) 105 TATCCTCAGAGATTTTTCTTT 0.338000 51 121 0 0 1 0 0 VNN3 55350 broad.mit.edu 37 6 133055545 133055545 + Missense_Mutation SNP A A C TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:133055545A>C ENST00000417437.2 - 1 286 c.287T>G c.(286-288)tTt>tGt p.F96C VNN3_ENST00000414302.2_Intron|VNN3_ENST00000427187.2_Intron|VNN3_ENST00000425515.2_Intron|VNN3_ENST00000392393.3_Intron|VNN3_ENST00000450865.2_Intron|VNN3_ENST00000207771.3_Intron|VNN3_ENST00000519686.2_Intron|VNN3_ENST00000392394.2_Intron|VNN3_ENST00000367927.5_Intron|VNN3_ENST00000423615.2_Intron|VNN3_ENST00000509351.1_Intron|VNN3_ENST00000275223.3_Intron vanin 3 cervix(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)|stomach(1) 8 Breast(56;0.135) OV - Ovarian serous cystadenocarcinoma(155;0.00242)|GBM - Glioblastoma multiforme(226;0.0168) AGTGGGGCAAAAAAGTTTGTC 0.428000 28 51 0 0 1 0 0 ERBB2 2064 broad.mit.edu 37 17 37863388 37863388 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:37863388C>T ENST00000406381.2 + 4 639 c.129C>T c.(127-129)ttC>ttT p.F43F ERBB2_ENST00000269571.5_Silent_p.F73F|ERBB2_ENST00000584450.1_Silent_p.F73F|ERBB2_ENST00000540147.1_Silent_p.F43F|ERBB2_ENST00000445658.2_Intron|ERBB2_ENST00000584601.1_Silent_p.F43F|ERBB2_ENST00000540042.1_Silent_p.F43F|ERBB2_ENST00000578199.1_Silent_p.F43F|ERBB2_ENST00000541774.1_Silent_p.F58F NM_001005862.1 NP_001005862.1 P04626 ERBB2_HUMAN v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2 73 cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4) 247 all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052) Ovarian(249;0.0547)|Colorectal(1115;0.234) UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171) UCEC - Uterine corpus endometrioid carcinoma (308;0.0767) Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072) GCCTGTCCTTCCTGCAGGTGA 0.647000 1 """A, Mis, O""" """breast, ovarian, other tumour types, NSCLC, gastric""" TCGA GBM(5;<1E-08) 17 28 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179434351 179434351 + Missense_Mutation SNP T T G TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:179434351T>G ENST00000589042.1 - 326 76732 c.76508A>C c.(76507-76509)gAa>gCa p.E25503A TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E16563A|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E23862A|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E22935A|TTN_ENST00000460472.2_Missense_Mutation_p.E16438A|TTN_ENST00000342175.6_Missense_Mutation_p.E16630A|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 23862 Fibronectin type-III 85. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TTCTAATTTTTCTTCAACTAT 0.378000 11 28 0 0 1 0 0 ACMSD 130013 broad.mit.edu 37 2 135616903 135616903 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:135616903C>T ENST00000356140.5 + 3 311 c.175C>T c.(175-177)Cgt>Tgt p.R59C AC016725.4_ENST00000392929.2_RNA|ACMSD_ENST00000392928.1_Silent_p.F17F|ACMSD_ENST00000283054.4_Silent_p.F17F NM_138326.2 NP_612199.2 Q8TDX5 ACMSD_HUMAN aminocarboxymuconate semialdehyde decarboxylase 59 quinolinate metabolic process|tryptophan catabolic process cytosol aminocarboxymuconate-semialdehyde decarboxylase activity|metal ion binding endometrium(3)|large_intestine(4)|lung(6)|skin(1) 14 BRCA - Breast invasive adenocarcinoma(221;0.115) TCCAGAAGTTCGTATTAGAGA 0.418000 22 46 0 0 1 0 0 PRH1 5554 broad.mit.edu 37 12 11034875 11034875 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:11034875C>T ENST00000428168.2 - 4 497 c.460G>A c.(460-462)Ggc>Agc p.G154S PRR4_ENST00000536668.1_5'UTR NM_006250.3 NP_006241.2 P02810 PRPC_HUMAN proline-rich protein HaeIII subfamily 1 154 extracellular space protein binding endometrium(1)|kidney(1)|lung(2)|upper_aerodigestive_tract(1) 5 BRCA - Breast invasive adenocarcinoma(232;0.245) TGTGGGCGGCCCCCTTGGGGA 0.582000 6 162 0 0 1 0 0 MAP4K1 11184 broad.mit.edu 37 19 39101896 39101896 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:39101896C>T ENST00000591517.1 - 10 743 c.715G>A c.(715-717)Gaa>Aaa p.E239K MAP4K1_ENST00000589130.1_Missense_Mutation_p.E235K|MAP4K1_ENST00000589002.1_Intron|MAP4K1_ENST00000396857.2_Missense_Mutation_p.E239K|MAP4K1_ENST00000423454.2_Intron|MAP4K1_ENST00000586296.1_Missense_Mutation_p.E239K NM_007181.4 NP_009112.1 Q92918 M4K1_HUMAN mitogen-activated protein kinase kinase kinase kinase 1 239 Protein kinase. activation of JUN kinase activity|peptidyl-serine phosphorylation ATP binding|MAP kinase kinase kinase kinase activity|protein binding|small GTPase regulator activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(24)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1) 44 all_cancers(60;6.42e-06)|Ovarian(47;0.103) Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272) TTGCCTTTTTCCTTCAGTCGG 0.572000 30 45 0 0 1 0 0 TECTA 7007 broad.mit.edu 37 11 120998925 120998925 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:120998925C>T ENST00000392793.1 + 9 2510 c.2239C>T c.(2239-2241)Cca>Tca p.P747S TECTA_ENST00000264037.2_Missense_Mutation_p.P747S O75443 TECTA_HUMAN tectorin alpha 747 VWFD 2. cell-matrix adhesion|sensory perception of sound anchored to membrane|plasma membrane|proteinaceous extracellular matrix TECTA/TBCEL(2) NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 135 all_hematologic(175;0.208) Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166) CCCTGAGCGCCCAGAGTACTT 0.602000 56 62 0 0 1 0 0 EPHB2 2048 broad.mit.edu 37 1 23240303 23240303 + Missense_Mutation SNP A A T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:23240303A>T ENST00000400191.3 + 17 3126 c.3108A>T c.(3106-3108)caA>caT p.Q1036H EPHB2_ENST00000374632.3_3'UTR NM_004442.6|NM_017449.3 NP_004433.2|NP_059145.2 P29323 EPHB2_HUMAN EPH receptor B2 1036 axon guidance integral to plasma membrane ATP binding|transmembrane-ephrin receptor activity NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1) 56 Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258) UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153) GGGAAATACAAGGAATATTTT 0.438000 7 12 0 0 1 0 0 PIK3CG 5294 broad.mit.edu 37 7 106513235 106513235 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:106513235C>T ENST00000359195.3 + 4 2449 c.2139C>T c.(2137-2139)ttC>ttT p.F713F PIK3CG_ENST00000496166.1_Silent_p.F713F|PIK3CG_ENST00000440650.2_Silent_p.F713F NM_002649.2 NP_002640.2 P48736 PK3CG_HUMAN phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma 713 G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 132 AGCAGAGGTTCGCTGTGATTC 0.463000 52 160 0 0 1 0 0 WNT7A 7476 broad.mit.edu 37 3 13860918 13860918 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:13860918G>A ENST00000285018.4 - 4 877 c.573C>T c.(571-573)atC>atT p.I191I NM_004625.3 NP_004616.2 O00755 WNT7A_HUMAN wingless-type MMTV integration site family, member 7A 191 activation of JUN kinase activity|anterior/posterior pattern formation|canonical Wnt receptor signaling pathway|cell proliferation in forebrain|cellular response to transforming growth factor beta stimulus|central nervous system vasculogenesis|cerebellar granule cell differentiation|dorsal/ventral pattern formation|embryonic axis specification|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic leg morphogenesis|lens fiber cell development|negative regulation of neurogenesis|palate development|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of JNK cascade|positive regulation of synaptogenesis|positive regulation of transcription from RNA polymerase II promoter|regulation of axon diameter|satellite cell activation|satellite cell maintenance involved in skeletal muscle regeneration|sex differentiation|uterus development|Wnt receptor signaling pathway involved in wound healing, spreading of epidermal cells|Wnt receptor signaling pathway, calcium modulating pathway extracellular space|plasma membrane|proteinaceous extracellular matrix cytokine activity|frizzled binding|receptor agonist activity|signal transducer activity NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1) 24 TCTCCTCCAGGATCTGCAGGG 0.657000 32 106 0 0 1 0 0 GGT5 2687 broad.mit.edu 37 22 24621313 24621313 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr22:24621313G>A ENST00000327365.4 - 10 1819 c.1403C>T c.(1402-1404)cCa>cTa p.P468L GGT5_ENST00000263112.7_Missense_Mutation_p.P436L|GGT5_ENST00000418439.2_Missense_Mutation_p.P392L|GGT5_ENST00000398292.3_Missense_Mutation_p.P469L NM_001099781.1|NM_004121.2 NP_001093251.1|NP_004112.2 P36269 GGT5_HUMAN gamma-glutamyltransferase 5 468 glutathione biosynthetic process|hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process integral to membrane|plasma membrane acyltransferase activity|gamma-glutamyltransferase activity breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(3)|skin(3) 28 CATGGAGGATGGGGAACGCTC 0.622000 72 120 0 0 1 0 0 MYH2 4620 broad.mit.edu 37 17 10451088 10451088 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:10451088C>T ENST00000245503.5 - 3 534 c.150G>A c.(148-150)ggG>ggA p.G50G MYH2_ENST00000397183.2_Silent_p.G50G|MYH2_ENST00000532183.1_Silent_p.G50G|CTC-297N7.7_ENST00000587182.1_RNA NM_017534.5 NP_060004.3 Q9UKX2 MYH2_HUMAN myosin, heavy chain 2, skeletal muscle, adult 50 Myosin head-like. muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4) 176 TCTGGATGGTCCCTTTGACAA 0.493000 68 101 0 0 1 0 0 OASL 8638 broad.mit.edu 37 12 121458649 121458649 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:121458649G>A ENST00000257570.5 - 6 1530 c.1260C>T c.(1258-1260)tcC>tcT p.S420S OASL_ENST00000339275.5_3'UTR NM_003733.3 NP_003724.1 Q15646 OASL_HUMAN 2'-5'-oligoadenylate synthetase-like 420 Ubiquitin-like 1. interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway cytoplasm|nucleolus ATP binding|DNA binding|double-stranded RNA binding|thyroid hormone receptor binding|transferase activity NS(1)|endometrium(3)|large_intestine(4)|lung(4)|skin(2) 14 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) TGTGAGTGTGGGAGAAGATCC 0.562000 38 82 0 0 1 0 0 IMPG2 50939 broad.mit.edu 37 3 100948315 100948315 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:100948315G>A ENST00000193391.7 - 17 3729 c.3542C>T c.(3541-3543)cCc>cTc p.P1181L NM_016247.3 NP_057331.2 Q9BZV3 IMPG2_HUMAN interphotoreceptor matrix proteoglycan 2 1181 visual perception integral to membrane|proteinaceous extracellular matrix extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 64 GCTGTAGAAGGGATGCTGAGG 0.502000 45 113 0 0 1 0 0 LEPR 3953 broad.mit.edu 37 1 66067617 66067617 + Missense_Mutation SNP A A C TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:66067617A>C ENST00000349533.6 + 10 1562 c.1377A>C c.(1375-1377)gaA>gaC p.E459D LEPR_ENST00000344610.8_Missense_Mutation_p.E459D|LEPR_ENST00000371060.3_Missense_Mutation_p.E459D|LEPR_ENST00000406510.3_Intron|LEPR_ENST00000371059.3_Missense_Mutation_p.E459D|LEPR_ENST00000462765.1_3'UTR|LEPR_ENST00000371058.1_Missense_Mutation_p.E459D NM_002303.5 NP_002294.2 P48357 LEPR_HUMAN leptin receptor 459 energy reserve metabolic process|multicellular organismal development extracellular region|integral to membrane|plasma membrane cytokine receptor activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2) 36 OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094) CACTTGCGGAAAGCACTTTGC 0.338000 28 116 0 0 1 0 0 TLX1 3195 broad.mit.edu 37 10 102891860 102891860 + Missense_Mutation SNP T T C TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:102891860T>C ENST00000370196.6 + 1 2604 c.562T>C c.(562-564)Ttc>Ctc p.F188L TLX1_ENST00000467928.2_Missense_Mutation_p.F188L P31314 TLX1_HUMAN T-cell leukemia homeobox 1 188 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|upper_aerodigestive_tract(1) 2 Epithelial(162;6.35e-09)|all cancers(201;3.21e-07) AAAGGACAGGTTCACAGGTGA 0.697000 T """TRB@, TRD@""" T-ALL 3 47 0 0 1 0 0 LRRC7 57554 broad.mit.edu 37 1 70504948 70504948 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:70504948G>A ENST00000310961.5 + 22 3760 c.3342G>A c.(3340-3342)agG>agA p.R1114R LRRC7_ENST00000035383.5_Silent_p.R1109R|LRRC7_ENST00000415775.2_Silent_p.R393R Q96NW7 LRRC7_HUMAN leucine rich repeat containing 7 1109 centrosome|focal adhesion|nucleolus protein binding breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 162 AAGGGGCCAGGGCGGGCTTCC 0.547000 4 158 0 0 1 0 0 GABRA2 2555 broad.mit.edu 37 4 46307612 46307612 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:46307612C>T ENST00000510861.1 - 7 849 c.676G>A c.(676-678)Gga>Aga p.G226R GABRA2_ENST00000381620.4_Missense_Mutation_p.G226R|GABRA2_ENST00000507069.1_Missense_Mutation_p.G226R|GABRA2_ENST00000356504.1_Missense_Mutation_p.G226R|GABRA2_ENST00000514090.1_Missense_Mutation_p.G226R|GABRA2_ENST00000540012.1_Missense_Mutation_p.G171R|GABRA2_ENST00000515082.1_Missense_Mutation_p.G226R P47869 GBRA2_HUMAN gamma-aminobutyric acid (GABA) A receptor, alpha 2 226 gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 56 Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) GTCTCCTTTCCGATTGATTGG 0.378000 36 81 0 0 1 0 0 TTC7A 57217 broad.mit.edu 37 2 47205970 47205970 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:47205970C>T ENST00000319190.5 + 5 1056 c.688C>T c.(688-690)Cac>Tac p.H230Y TTC7A_ENST00000409245.1_Missense_Mutation_p.H196Y|TTC7A_ENST00000394850.2_Missense_Mutation_p.H230Y|TTC7A_ENST00000263737.6_5'UTR|TTC7A_ENST00000461601.1_3'UTR NM_020458.2 NP_065191.2 Q9ULT0 TTC7A_HUMAN tetratricopeptide repeat domain 7A 230 binding breast(4)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 25 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18) Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114) GAAAGGCTGTCACCCGCTTGA 0.522000 23 50 0 0 1 0 0 GBP1P1 400759 broad.mit.edu 37 1 89885866 89885866 + RNA SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:89885866G>A ENST00000513638.1 + 0 406 NR_003133.2 GGGTCTGGGAGATGTAGAGAA 0.463000 55 83 0 0 1 0 0 TLN2 83660 broad.mit.edu 37 15 63084959 63084959 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr15:63084959C>T ENST00000561311.1 + 45 6086 c.5856C>T c.(5854-5856)atC>atT p.I1952I TLN2_ENST00000306829.6_Silent_p.I1952I Q9Y4G6 TLN2_HUMAN talin 2 1952 cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse actin binding|insulin receptor binding|structural constituent of cytoskeleton NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5) 99 GGGAGCTGATCGAATGCGCCC 0.592000 8 41 0 0 1 0 0 CENPC 1060 broad.mit.edu 37 4 68384986 68384986 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:68384986G>A ENST00000273853.6 - 6 816 c.566C>T c.(565-567)tCa>tTa p.S189L NM_001812.2 NP_001803.2 centromere protein C CATATTTACTGAATTTTCAAA 0.308000 50 65 0 0 1 0 0 WNT7A 7476 broad.mit.edu 37 3 13860912 13860912 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:13860912C>T ENST00000285018.4 - 4 883 c.579G>A c.(577-579)gaG>gaA p.E193E NM_004625.3 NP_004616.2 O00755 WNT7A_HUMAN wingless-type MMTV integration site family, member 7A 193 activation of JUN kinase activity|anterior/posterior pattern formation|canonical Wnt receptor signaling pathway|cell proliferation in forebrain|cellular response to transforming growth factor beta stimulus|central nervous system vasculogenesis|cerebellar granule cell differentiation|dorsal/ventral pattern formation|embryonic axis specification|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic leg morphogenesis|lens fiber cell development|negative regulation of neurogenesis|palate development|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of JNK cascade|positive regulation of synaptogenesis|positive regulation of transcription from RNA polymerase II promoter|regulation of axon diameter|satellite cell activation|satellite cell maintenance involved in skeletal muscle regeneration|sex differentiation|uterus development|Wnt receptor signaling pathway involved in wound healing, spreading of epidermal cells|Wnt receptor signaling pathway, calcium modulating pathway extracellular space|plasma membrane|proteinaceous extracellular matrix cytokine activity|frizzled binding|receptor agonist activity|signal transducer activity NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1) 24 TCATGTTCTCCTCCAGGATCT 0.657000 36 111 0 0 1 0 0 PKD1L1 168507 broad.mit.edu 37 7 47886514 47886514 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:47886514G>A ENST00000289672.2 - 32 5166 c.5116C>T c.(5116-5118)Cca>Tca p.P1706S NM_138295.3 NP_612152.1 Q8TDX9 PK1L1_HUMAN polycystic kidney disease 1 like 1 1706 GPS. cell-cell adhesion integral to membrane BBS9/PKD1L1(2) NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5) 142 CCTGGTTGTGGAGAGAAACGT 0.403000 50 89 0 0 1 0 0 KAZN 23254 broad.mit.edu 37 1 15441089 15441089 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:15441089C>T ENST00000376030.2 + 15 2580 c.2286C>T c.(2284-2286)tgC>tgT p.C762C NM_201628.2 NP_963922.2 Q674X7 KAZRN_HUMAN kazrin, periplakin interacting protein 762 keratinization cornified envelope|cytoplasm|desmosome|nucleus central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(1)|prostate(2) 25 TGGAACAGTGCCGTCTGGAAG 0.552000 10 17 0 0 1 0 0 SCN1A 6323 broad.mit.edu 37 2 166866275 166866275 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:166866275C>T ENST00000423058.2 - 20 3973 c.3956G>A c.(3955-3957)aGa>aAa p.R1319K AC010127.3_ENST00000597623.1_RNA|SCN1A_ENST00000409050.1_Missense_Mutation_p.R1291K|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000375405.3_Missense_Mutation_p.R1308K|SCN1A_ENST00000303395.4_Missense_Mutation_p.R1319K NM_001165963.1|NM_001202435.1 NP_001159435.1|NP_001189364.1 P35498 SCN1A_HUMAN sodium channel, voltage-gated, type I, alpha subunit 1319 voltage-gated sodium channel complex voltage-gated sodium channel activity NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1) 200 Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909) TCTCAGAGCTCTTAGTGTCCT 0.373000 46 70 0 0 1 0 0 TENM2 57451 broad.mit.edu 37 5 167551905 167551905 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:167551905G>A ENST00000519204.1 + 10 1814 c.1696G>A c.(1696-1698)Gaa>Aaa p.E566K CTB-178M22.1_ENST00000517408.1_RNA|TENM2_ENST00000520394.1_Missense_Mutation_p.E455K|TENM2_ENST00000518659.1_Missense_Mutation_p.E687K|TENM2_ENST00000545108.1_Missense_Mutation_p.E687K|TENM2_ENST00000403607.2_Missense_Mutation_p.E520K teneurin transmembrane protein 2 TGTGAATGGAGAATGCCTGTG 0.517000 13 22 0 0 1 0 0 SENP7 57337 broad.mit.edu 37 3 101136606 101136606 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:101136606G>A ENST00000394095.2 - 5 366 c.313C>T c.(313-315)Cta>Tta p.L105L SENP7_ENST00000394091.1_Intron|SENP7_ENST00000394094.2_Silent_p.L105L|SENP7_ENST00000314261.7_Intron|SENP7_ENST00000358203.3_Intron|SENP7_ENST00000348610.3_Silent_p.L72L NM_020654.3 NP_065705.3 Q9BQF6 SENP7_HUMAN SUMO1/sentrin specific peptidase 7 105 proteolysis nucleus cysteine-type peptidase activity breast(2)|endometrium(1)|kidney(1)|large_intestine(16)|lung(15)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 TCCGTCCATAGGACATTCGTC 0.358000 10 100 0 0 1 0 0 SHANK3 85358 broad.mit.edu 37 22 51154147 51154147 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr22:51154147C>T ENST00000414786.2 + 20 2501 c.2274C>T c.(2272-2274)tcC>tcT p.S758S SHANK3_ENST00000262795.3_Silent_p.S788S|SHANK3_ENST00000445220.2_Silent_p.S774S F2Z3L0 F2Z3L0_HUMAN SH3 and multiple ankyrin repeat domains 3 788 central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5) 8 all_cancers(38;3.75e-11)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178) BRCA - Breast invasive adenocarcinoma(115;0.22) TGCCGGGCTCCTTGCGGAAGG 0.662000 15 147 0 0 1 0 0 BEST3 144453 broad.mit.edu 37 12 70072651 70072651 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:70072651C>T ENST00000330891.5 - 5 730 c.504G>A c.(502-504)agG>agA p.R168R BEST3_ENST00000331471.4_Silent_p.R168R|BEST3_ENST00000553096.1_Silent_p.R62R|BEST3_ENST00000488961.1_Silent_p.R6R|BEST3_ENST00000476098.1_Silent_p.R6R NM_032735.2 NP_116124.2 Q8N1M1 BEST3_HUMAN bestrophin 3 168 chloride channel complex|plasma membrane chloride channel activity cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2) 12 Breast(13;2.31e-06)|Esophageal squamous(21;0.187) Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694) TGAATAATTTCCTTTCATCTG 0.343000 17 33 0 0 1 0 0 MAP3K6 9064 broad.mit.edu 37 1 27684329 27684329 + Missense_Mutation SNP G G A rs148022982 byFrequency TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:27684329G>A ENST00000374040.3 - 21 3190 c.2930C>T c.(2929-2931)cCg>cTg p.P977L MAP3K6_ENST00000493901.1_Missense_Mutation_p.P985L|MAP3K6_ENST00000357582.2_Missense_Mutation_p.P985L O95382 M3K6_HUMAN mitogen-activated protein kinase kinase kinase 6 985 activation of JUN kinase activity ATP binding|magnesium ion binding|MAP kinase kinase kinase activity breast(4)|central_nervous_system(2)|lung(3)|ovary(1) 10 all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.69e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00132)|KIRC - Kidney renal clear cell carcinoma(1967;0.00163)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419) ACTCTCCTCCGGAGACGCAGG 0.677000 OREG0013282 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 8 14 0 0 1 0 0 BRD8 10902 broad.mit.edu 37 5 137488222 137488222 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:137488222C>T ENST00000254900.5 - 21 3176 c.2805G>A c.(2803-2805)caG>caA p.Q935Q NM_139199.1 NP_631938.1 Q9H0E9 BRD8_HUMAN bromodomain containing 8 935 cell surface receptor linked signaling pathway|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription from RNA polymerase II promoter mitochondrion|NuA4 histone acetyltransferase complex sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(3)|urinary_tract(1) 35 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109) TTGCCGCTTCCTGAGATTCCT 0.512000 128 224 0 0 1 0 0 TOX 9760 broad.mit.edu 37 8 59852042 59852042 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:59852042G>A ENST00000361421.1 - 3 450 c.230C>T c.(229-231)tCc>tTc p.S77F NM_014729.2 NP_055544.1 O94900 TOX_HUMAN thymocyte selection-associated high mobility group box 77 nucleus DNA binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(13)|prostate(1)|skin(2)|stomach(1) 33 all_cancers(86;0.165)|Myeloproliferative disorder(644;0.00452)|all_lung(136;0.036)|Lung NSC(129;0.0464)|all_epithelial(80;0.0607) GTCTGGGAGGGAAGGAGGAGT 0.463000 40 72 0 0 1 0 0 FAM221B 392307 broad.mit.edu 37 9 35826155 35826155 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:35826155C>T ENST00000423537.2 - 2 273 c.4G>A c.(4-6)Gaa>Aaa p.E2K TMEM8B_ENST00000377996.1_Intron NM_001012446.3 NP_001012448.2 A6H8Z2 CI128_HUMAN family with sequence similarity 221, member B 2 endometrium(2)|kidney(1)|lung(4) 7 TCATGTGCTTCCATCTAGTGG 0.507000 OREG0019180 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 85 0 0 1 0 0 FEZ2 9637 broad.mit.edu 37 2 36808492 36808492 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:36808492G>A ENST00000379245.4 - 4 623 c.575C>T c.(574-576)tCa>tTa p.S192L FEZ2_ENST00000305852.7_Missense_Mutation_p.S21L|FEZ2_ENST00000405912.3_Missense_Mutation_p.S192L NM_001042548.1 NP_001036013.1 Q9UHY8 FEZ2_HUMAN fasciculation and elongation protein zeta 2 (zygin II) 192 axon guidance|signal transduction protein binding breast(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1) 7 all_hematologic(82;0.21) GGAAAGCATTGAAAGCCGATC 0.428000 71 170 0 0 1 0 0 SERPINF1 5176 broad.mit.edu 37 17 1675243 1675243 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:1675243C>T ENST00000254722.4 + 5 680 c.517C>T c.(517-519)Cct>Tct p.P173S NM_002615.5 NP_002606.3 P36955 PEDF_HUMAN serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 1 173 cell proliferation|negative regulation of angiogenesis|positive regulation of neurogenesis|regulation of proteolysis extracellular space|melanosome serine-type endopeptidase inhibitor activity autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1) 16 GACGGGCAACCCTCGCTTGGA 0.547000 22 33 0 0 1 0 0 PLBD1 79887 broad.mit.edu 37 12 14659954 14659954 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:14659954C>T ENST00000240617.5 - 9 1937 c.1285G>A c.(1285-1287)Gat>Aat p.D429N NM_024829.5 NP_079105.4 Q6P4A8 PLBL1_HUMAN phospholipase B domain containing 1 429 lipid catabolic process extracellular region hydrolase activity central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1) 16 GGAGCTAAATCATAAGAGTAG 0.433000 43 86 0 0 1 0 0 C3P1 388503 broad.mit.edu 37 19 10158000 10158000 + RNA SNP T T G TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:10158000T>G ENST00000495140.1 + 0 1208 endometrium(4)|large_intestine(2)|lung(6)|urinary_tract(1) 13 TGTAGGTCTCTGTGTCTCGGA 0.552000 9 228 0 0 1 0 0 SUCO 51430 broad.mit.edu 37 1 172558446 172558446 + Missense_Mutation SNP A A T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:172558446A>T ENST00000367723.3 + 17 2785 c.2661A>T c.(2659-2661)ttA>ttT p.L887F SUCO_ENST00000263688.3_Missense_Mutation_p.L735F NM_016227.2 NP_057311.2 SUN domain containing ossification factor CTCTTCTTTTAGATATTACCC 0.403000 37 105 0 0 1 0 0 HOXA3 3200 broad.mit.edu 37 7 27149829 27149829 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:27149829G>A ENST00000396352.4 - 2 630 c.431C>T c.(430-432)cCc>cTc p.P144L HOXA-AS2_ENST00000518088.1_RNA|HOXA3_ENST00000317201.2_Missense_Mutation_p.P144L NM_030661.4 NP_109377.1 O43365 HXA3_HUMAN homeobox A3 144 angiogenesis nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|lung(18)|skin(1) 29 GTTGAGCAGGGGGCTCTTGGC 0.597000 32 67 0 0 1 0 0 GRXCR1 389207 broad.mit.edu 37 4 42965040 42965040 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:42965040G>A ENST00000399770.2 + 2 516 c.516G>A c.(514-516)gaG>gaA p.E172E NM_001080476.2 NP_001073945.1 A8MXD5 GRCR1_HUMAN glutaredoxin, cysteine rich 1 172 Glutaredoxin. cell redox homeostasis|inner ear receptor stereocilium organization|sensory perception of sound|vestibular receptor cell development kinocilium|stereocilium electron carrier activity|protein disulfide oxidoreductase activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(22)|ovary(1)|prostate(2)|skin(1) 32 AATTTGAAGAGAAAAACATAG 0.433000 116 203 0 0 1 0 0 LRFN2 57497 broad.mit.edu 37 6 40360203 40360203 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:40360203G>A ENST00000338305.6 - 3 2391 c.1849C>T c.(1849-1851)Cgc>Tgc p.R617C NM_020737.1 NP_065788.1 Q9ULH4 LRFN2_HUMAN leucine rich repeat and fibronectin type III domain containing 2 617 cell junction|integral to membrane|postsynaptic membrane breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 58 Ovarian(28;0.0418)|Colorectal(47;0.196) TCACTGGCGCGGGCCAGGCTG 0.756000 5 26 0 0 1 0 0 F2 2147 broad.mit.edu 37 11 46748082 46748082 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:46748082G>A ENST00000311907.5 + 8 965 c.909G>A c.(907-909)ctG>ctA p.L303L F2_ENST00000530231.1_Silent_p.L303L NM_000506.3 NP_000497.1 P00734 THRB_HUMAN coagulation factor II (thrombin) 303 activation of caspase activity|acute-phase response|blood coagulation, intrinsic pathway|cell surface receptor linked signaling pathway|cytosolic calcium ion homeostasis|fibrinolysis|leukocyte migration|negative regulation of astrocyte differentiation|negative regulation of fibrinolysis|negative regulation of platelet activation|negative regulation of proteolysis|peptidyl-glutamic acid carboxylation|platelet activation|positive regulation of collagen biosynthetic process|positive regulation of protein phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of release of sequestered calcium ion into cytosol|post-translational protein modification|proteolysis|STAT protein import into nucleus|tyrosine phosphorylation of STAT protein cytosol|endoplasmic reticulum lumen|extracellular space|Golgi lumen|plasma membrane|soluble fraction calcium ion binding|growth factor activity|serine-type endopeptidase activity|thrombospondin receptor activity endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1) 27 all_lung(304;0.000414)|Lung NSC(402;0.0011) BRCA - Breast invasive adenocarcinoma(625;0.146) Antihemophilic Factor(DB00025)|Argatroban(DB00278)|Bivalirudin(DB00006)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)|Enoxaparin(DB01225)|Heparin(DB01109)|Lepirudin(DB00001)|Menadione(DB00170)|Proflavine(DB01123)|Simvastatin(DB00641)|Suramin(DB04786)|Warfarin(DB00682)|Ximelagatran(DB04898) GAGATGGGCTGGATGAGGACT 0.632000 19 50 0 0 1 0 0 TENM3 55714 broad.mit.edu 37 4 183721264 183721264 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:183721264C>T ENST00000511685.1 + 28 7983 c.7860C>T c.(7858-7860)atC>atT p.I2620I TENM3_ENST00000406950.2_Silent_p.I2620I teneurin transmembrane protein 3 AGGCGCGCATCCTGGAGCAGG 0.761000 4 13 0 0 1 0 0 MCTP2 55784 broad.mit.edu 37 15 95013586 95013586 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr15:95013586C>T ENST00000357742.4 + 20 2385 c.2385C>T c.(2383-2385)ttC>ttT p.F795F MCTP2_ENST00000451018.3_Silent_p.F740F NM_018349.3 NP_060819.3 Q6DN12 MCTP2_HUMAN multiple C2 domains, transmembrane 2 795 calcium-mediated signaling integral to membrane|membrane fraction calcium ion binding autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2) 49 Lung NSC(78;0.0821)|all_lung(78;0.148) BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593) CGGTCCCCTTCCTTTCATCTC 0.408000 59 115 0 0 1 0 0 SSU72 29101 broad.mit.edu 37 1 1500272 1500272 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:1500272G>A ENST00000359060.4 - 2 131 c.105C>T c.(103-105)tcC>tcT p.S35S SSU72_ENST00000291386.3_Silent_p.S35S Q9NP77 SSU72_HUMAN SSU72 RNA polymerase II CTD phosphatase homolog (S. cerevisiae) 35 mRNA processing cytoplasm|nucleus phosphoprotein phosphatase activity large_intestine(2)|lung(5) 7 all_cancers(77;0.00125)|all_epithelial(69;0.000703)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;5.03e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) Epithelial(90;5.04e-37)|OV - Ovarian serous cystadenocarcinoma(86;3.72e-23)|GBM - Glioblastoma multiforme(42;1.2e-07)|Colorectal(212;0.000188)|COAD - Colon adenocarcinoma(227;0.000214)|Kidney(185;0.00254)|STAD - Stomach adenocarcinoma(132;0.00645)|BRCA - Breast invasive adenocarcinoma(365;0.00837)|KIRC - Kidney renal clear cell carcinoma(229;0.037)|Lung(427;0.205) CTGTTCCAAAGGATCGGACGC 0.453000 35 57 0 0 1 0 0 ZNF560 147741 broad.mit.edu 37 19 9577371 9577371 + Missense_Mutation SNP G G T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:9577371G>T ENST00000301480.4 - 10 2465 c.2252C>A c.(2251-2253)aCa>aAa p.T751K NM_152476.2 NP_689689.2 Q96MR9 ZN560_HUMAN zinc finger protein 560 751 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4) 65 TCCTGAGGATGTACGGAAGGC 0.433000 38 86 8.73648e-17 8.81582e-17 1 1 0 DHX57 90957 broad.mit.edu 37 2 39029922 39029922 + Nonsense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:39029922G>A ENST00000295373.6 - 23 4078 c.3952C>T c.(3952-3954)Caa>Taa p.Q1318* NM_198963.1 NP_945314.1 Q6P158 DHX57_HUMAN DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57 1318 ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 62 all_hematologic(82;0.248) TCTCCTCTTTGAAGCTGCACA 0.483000 9 200 0 0 1 0 0 KMO 8564 broad.mit.edu 37 1 241714274 241714274 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:241714274C>T ENST00000366559.4 + 4 553 c.242C>T c.(241-243)cCc>cTc p.P81L KMO_ENST00000484628.1_3'UTR|KMO_ENST00000366557.4_Missense_Mutation_p.P81L|KMO_ENST00000366558.3_Missense_Mutation_p.P81L NM_003679.4 NP_003670.2 O15229 KMO_HUMAN kynurenine 3-monooxygenase (kynurenine 3-hydroxylase) 81 pyridine nucleotide biosynthetic process|response to salt stress cytosol|integral to membrane|mitochondrial outer membrane electron carrier activity|flavin adenine dinucleotide binding|kynurenine 3-monooxygenase activity|NAD(P)H oxidase activity NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2) 33 Ovarian(103;0.103)|all_lung(81;0.23) OV - Ovarian serous cystadenocarcinoma(106;0.0176) CAAGGTATTCCCATGAGAGCA 0.378000 5 272 0 0 1 0 0 DPP6 1804 broad.mit.edu 37 7 154587593 154587593 + Splice_Site SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:154587593G>A ENST00000404039.1 + 12 1694 c.1107_splice c.e12+1 p.Q369_splice DPP6_ENST00000427557.1_Splice_Site_p.Q326_splice|DPP6_ENST00000377770.3_Splice_Site_p.Q433_splice|DPP6_ENST00000332007.3_Splice_Site_p.Q371_splice NM_001039350.1|NM_001936.3|NM_130797.2 NP_001034439.1|NP_001927.3|NP_570629.2 P42658 DPP6_HUMAN dipeptidyl-peptidase 6 433 cell death|proteolysis integral to membrane dipeptidyl-peptidase activity|serine-type peptidase activity NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 71 all_neural(206;0.181) all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204) OV - Ovarian serous cystadenocarcinoma(82;0.0562) TCCACAGACAGGTAACTACTG 0.483000 13 34 0 0 1 0 0 ROBO1 6091 broad.mit.edu 37 3 78676549 78676549 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:78676549G>A ENST00000436010.2 - 24 4677 c.3680C>T c.(3679-3681)tCc>tTc p.S1227F ROBO1_ENST00000467549.1_Missense_Mutation_p.S1166F|ROBO1_ENST00000464233.1_Missense_Mutation_p.S1266F|ROBO1_ENST00000495273.1_Missense_Mutation_p.S1221F Q9Y6N7 ROBO1_HUMAN roundabout, axon guidance receptor, homolog 1 (Drosophila) 1266 activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway cell surface|cytoplasm|integral to plasma membrane axon guidance receptor activity|identical protein binding|LRR domain binding breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1) 44 Lung SC(41;0.0257)|Lung NSC(201;0.0439) LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274) TTCCTGTGGGGAGGGAGTCAG 0.577000 10 18 0 0 1 0 0 ABCB1 5243 broad.mit.edu 37 7 87148735 87148735 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:87148735G>A ENST00000265724.3 - 24 3251 c.2834C>T c.(2833-2835)aCc>aTc p.T945I ABCB1_ENST00000488737.2_5'UTR|ABCB1_ENST00000543898.1_Missense_Mutation_p.T881I NM_000927.4 NP_000918.2 P08183 MDR1_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 1 945 ABC transmembrane type-1 2. G2/M transition of mitotic cell cycle|stem cell proliferation apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction ATP binding|protein binding|xenobiotic-transporting ATPase activity NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1) 111 Esophageal squamous(14;0.00164) Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570) CATTGCCTGGGTGAAGGAAAA 0.383000 26 138 0 0 1 0 0 RYR1 6261 broad.mit.edu 37 19 39002915 39002915 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:39002915G>A ENST00000355481.4 + 63 9395 c.9264G>A c.(9262-9264)gtG>gtA p.V3088V RYR1_ENST00000360985.3_Silent_p.V3088V|RYR1_ENST00000359596.3_Silent_p.V3088V NM_000540.2|NM_001042723.1 NP_000531.2|NP_001036188.1 P21817 RYR1_HUMAN ryanodine receptor 1 (skeletal) 3088 muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7) 285 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) CTGAGATCGTGAAGGCTGGCC 0.627000 38 77 0 0 1 0 0 LPXN 9404 broad.mit.edu 37 11 58295607 58295607 + Missense_Mutation SNP G G A rs147430012 TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:58295607G>A ENST00000528954.1 - 8 934 c.815C>T c.(814-816)tCa>tTa p.S272L LPXN_ENST00000395074.2_Missense_Mutation_p.S267L|LPXN_ENST00000528489.1_Missense_Mutation_p.S247L NM_001143995.1 NP_001137467.1 O60711 LPXN_HUMAN leupaxin 267 LIM zinc-binding 3. cell adhesion|protein complex assembly|signal transduction cytoplasm zinc ion binding NS(1)|central_nervous_system(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 14 Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24) ACACTTGGGTGAGAACATGGC 0.483000 47 109 0 0 1 0 0 UGT2B17 7367 broad.mit.edu 37 4 69433930 69433930 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:69433930C>T ENST00000317746.2 - 1 315 c.273G>A c.(271-273)atG>atA p.M91I NM_001077.3 NP_001068.1 O75795 UDB17_HUMAN UDP glucuronosyltransferase 2 family, polypeptide B17 91 steroid metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(14)|ovary(2)|prostate(1) 30 CGAACATTTTCATAAAAAAAT 0.274000 38 19 0 0 1 0 0 GALNT15 117248 broad.mit.edu 37 3 16260953 16260953 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:16260953G>A ENST00000339732.5 + 7 1939 c.1436G>A c.(1435-1437)aGa>aAa p.R479K GALNT15_ENST00000437509.1_Missense_Mutation_p.R479K NM_054110.4 NP_473451.3 UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 15 p.R479I(1) CTGCAAAGGAGACTGGGTTGT 0.527000 105 191 0 0 1 0 0 ALPK2 115701 broad.mit.edu 37 18 56184192 56184192 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr18:56184192C>T ENST00000361673.3 - 9 6101 c.5888G>A c.(5887-5889)gGg>gAg p.G1963E NM_052947.3 NP_443179.3 Q86TB3 ALPK2_HUMAN alpha-kinase 2 1963 Alpha-type protein kinase. ATP binding|protein serine/threonine kinase activity NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2) 84 ATTTCTGGTCCCATAGGCAAT 0.542000 11 186 0 0 1 0 0 PPFIA2 8499 broad.mit.edu 37 12 81746986 81746986 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:81746986C>T ENST00000550584.2 - 16 2201 c.1906G>A c.(1906-1908)Gat>Aat p.D636N PPFIA2_ENST00000548586.1_Missense_Mutation_p.D636N|PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000407050.4_Missense_Mutation_p.D562N|PPFIA2_ENST00000549325.1_Missense_Mutation_p.D618N|PPFIA2_ENST00000550359.2_Missense_Mutation_p.D483N|PPFIA2_ENST00000541017.1_5'UTR|PPFIA2_ENST00000552948.1_Missense_Mutation_p.D636N|PPFIA2_ENST00000549396.1_Missense_Mutation_p.D636N|PPFIA2_ENST00000443686.3_Missense_Mutation_p.D537N|PPFIA2_ENST00000333447.7_Missense_Mutation_p.D618N|PPFIA2_ENST00000541570.2_Missense_Mutation_p.D203N NM_001220473.1 NP_001207402.1 B7Z663 B7Z663_HUMAN protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2 562 NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5) 85 GAGAGAAGATCCATTGAGCTA 0.408000 23 87 0 0 1 0 0 DNAH5 1767 broad.mit.edu 37 5 13717505 13717505 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:13717505G>A ENST00000265104.4 - 73 12728 c.12624C>T c.(12622-12624)atC>atT p.I4208I NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 4208 AAA 6 (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) ATTCGTAGGGGATATTCCACC 0.542000 Kartagener syndrome 21 24 0 0 1 0 0 HERC2P3 283755 broad.mit.edu 37 15 20588683 20588683 + RNA SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr15:20588683C>T ENST00000428453.1 - 0 4067 central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 35 TTCTTCTTCTCCAAAAACAAC 0.318000 11 107 0 0 1 0 0 KIAA1549 57670 broad.mit.edu 37 7 138602586 138602586 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:138602586G>A ENST00000440172.1 - 2 1834 c.1786C>T c.(1786-1788)Cct>Tct p.P596S KIAA1549_ENST00000422774.1_Missense_Mutation_p.P596S|KIAA1549_ENST00000242365.4_Missense_Mutation_p.P546S NM_001164665.1|NM_020910.2 NP_001158137.1|NP_065961.2 Q9HCM3 K1549_HUMAN KIAA1549 596 Ser-rich. integral to membrane KIAA1549/BRAF(703) large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2) 7 TCCACTGAAGGAACCAGACTA 0.448000 O BRAF pilocytic astrocytoma 16 23 0 0 1 0 0 RBM41 55285 broad.mit.edu 37 X 106310817 106310817 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chrX:106310817G>A ENST00000372487.1 - 7 1208 c.1182C>T c.(1180-1182)ctC>ctT p.L394L RBM41_ENST00000372479.3_Silent_p.L394L NM_001171080.1 NP_001164551.1 Q96IZ5 RBM41_HUMAN RNA binding motif protein 41 394 nucleotide binding|RNA binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1) 13 AAGTCGCTTGGAGATTTGACC 0.378000 116 40 0 0 1 0 0 TMC7 79905 broad.mit.edu 37 16 19056710 19056710 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr16:19056710C>T ENST00000421369.3 + 11 1731 c.1173C>T c.(1171-1173)ttC>ttT p.F391F TMC7_ENST00000569532.1_Silent_p.F501F|TMC7_ENST00000304381.5_Silent_p.F501F NM_001160364.1 NP_001153836.1 Q7Z402 TMC7_HUMAN transmembrane channel-like 7 501 integral to membrane breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1) 28 TGATGATCTTCGACTTCATCA 0.488000 42 65 0 0 1 0 0 TNC 3371 broad.mit.edu 37 9 117786296 117786296 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:117786296G>A ENST00000350763.4 - 27 6862 c.6451C>T c.(6451-6453)Cgt>Tgt p.R2151C TNC_ENST00000542877.1_Missense_Mutation_p.R1788C|TNC_ENST00000537320.1_Missense_Mutation_p.R1514C|TNC_ENST00000341037.4_Missense_Mutation_p.R1969C|TNC_ENST00000345230.3_Missense_Mutation_p.R1514C|TNC_ENST00000423613.2_Missense_Mutation_p.R1878C|TNC_ENST00000535648.1_Missense_Mutation_p.R1696C|TNC_ENST00000340094.3_Missense_Mutation_p.R1787C|TNC_ENST00000346706.3_Missense_Mutation_p.R1605C NM_002160.3 NP_002151.2 P24821 TENA_HUMAN tenascin C 2151 Fibrinogen C-terminal. cell adhesion|response to wounding|signal transduction extracellular space receptor binding|syndecan binding NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 120 AGGTTGACACGGTGACAGTTC 0.547000 68 153 0 0 1 0 0 MYH14 79784 broad.mit.edu 37 19 50812399 50812399 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:50812399G>A ENST00000440075.2 + 42 5972 c.5925G>A c.(5923-5925)atG>atA p.M1975I MYH14_ENST00000601313.1_Missense_Mutation_p.M1975I|MYH14_ENST00000598205.1_Missense_Mutation_p.M1942I|MYH14_ENST00000596571.1_Missense_Mutation_p.M1934I|MYH14_ENST00000425460.1_Missense_Mutation_p.M1942I|MYH14_ENST00000376970.2_Missense_Mutation_p.M1967I|MYH14_ENST00000262269.8_Missense_Mutation_p.M1975I Q7Z406 MYH14_HUMAN myosin, heavy chain 14, non-muscle 1934 axon guidance|regulation of cell shape myosin complex actin binding|ATP binding|calmodulin binding|motor activity central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 46 all_neural(266;0.0571)|Ovarian(192;0.0728) OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195) CCGAGTCCATGAACCGTGAAG 0.647000 45 121 0 0 1 0 0 IGHV2-26 28455 broad.mit.edu 37 14 106757771 106757771 + RNA SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr14:106757771G>A ENST00000390611.2 - 0 259 TGTGCTGTAGGATTTTTCGTC 0.532000 34 83 0 0 1 0 0 C9orf89 84270 broad.mit.edu 37 9 95875315 95875315 + Missense_Mutation SNP T T C TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:95875315T>C ENST00000375464.2 + 6 606 c.478T>C c.(478-480)Tcg>Ccg p.S160P C9orf89_ENST00000488630.1_3'UTR NM_032310.3 NP_115686.3 Q96LW7 BINCA_HUMAN chromosome 9 open reading frame 89 0 negative regulation of I-kappaB kinase/NF-kappaB cascade cytosol|nucleus CARD domain binding endometrium(1)|kidney(1)|lung(3)|ovary(1)|skin(1) 7 CCTCGGTTTCTCGCCTGTCAT 0.602000 11 20 0 0 1 0 0 ZNF490 57474 broad.mit.edu 37 19 12691583 12691583 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:12691583G>A ENST00000311437.6 - 5 1428 c.1306C>T c.(1306-1308)Cat>Tat p.H436Y CTD-2192J16.20_ENST00000593682.1_Silent_p.S69S NM_020714.2 NP_065765.1 Q9ULM2 ZN490_HUMAN zinc finger protein 490 436 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|urinary_tract(1) 18 GTTCTTTCATGGATTCGAAAG 0.418000 6 171 0 0 1 0 0 POTEC 388468 broad.mit.edu 37 18 14542972 14542972 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr18:14542972C>T ENST00000358970.5 - 1 173 c.174G>A c.(172-174)agG>agA p.R58R POTEC_ENST00000389891.4_5'UTR NM_001137671.1 NP_001131143.1 B2RU33 POTEC_HUMAN POTE ankyrin domain family, member C 58 NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3) 52 CCATCTTGCTCCTGAGCATCT 0.577000 95 391 0 0 1 0 0 FPR1 2357 broad.mit.edu 37 19 52249898 52249898 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:52249898G>A ENST00000595042.1 - 3 491 c.350C>T c.(349-351)gCc>gTc p.A117V FPR1_ENST00000304748.4_Missense_Mutation_p.A117V NM_001193306.1 NP_001180235.1 P21462 FPR1_HUMAN formyl peptide receptor 1 117 activation of MAPK activity|cellular component movement|chemotaxis|G-protein signaling, coupled to cAMP nucleotide second messenger|nitric oxide mediated signal transduction endosome|integral to membrane|plasma membrane N-formyl peptide receptor activity endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(3) 20 all_neural(266;0.0189)|Medulloblastoma(540;0.146) GBM - Glioblastoma multiforme(134;0.00106)|OV - Ovarian serous cystadenocarcinoma(262;0.018) Nedocromil(DB00716) AGCAATGAGGGCGATCAGGAA 0.557000 22 83 0 0 1 0 0 CST11 140880 broad.mit.edu 37 20 23433277 23433277 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr20:23433277C>T ENST00000377009.3 - 1 205 c.172G>A c.(172-174)Gaa>Aaa p.E58K CST11_ENST00000377007.3_Missense_Mutation_p.E58K NM_130794.1 NP_570612.1 Q9H112 CST11_HUMAN cystatin 11 58 defense response to bacterium cytoplasm|nucleus cysteine-type endopeptidase inhibitor activity kidney(2)|large_intestine(1)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 14 Colorectal(13;0.0431)|Lung NSC(19;0.235) TCATCACTTTCCTTGTTATAC 0.498000 82 127 0 0 1 0 0 TMC2 117532 broad.mit.edu 37 20 2542548 2542548 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr20:2542548C>T ENST00000358864.1 + 4 461 c.446C>T c.(445-447)tCc>tTc p.S149F NM_080751.2 NP_542789.2 Q8TDI7 TMC2_HUMAN transmembrane channel-like 2 149 Arg/Asp/Glu/Lys-rich (highly charged). integral to membrane NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 35 GAGTCCCTGTCCGAGGAGGAA 0.607000 39 75 0 0 1 0 0 ITGA1 3672 broad.mit.edu 37 5 52221185 52221185 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:52221185G>A ENST00000282588.6 + 19 2939 c.2481G>A c.(2479-2481)aaG>aaA p.K827K NM_181501.1 NP_852478.1 P56199 ITA1_HUMAN integrin, alpha 1 827 axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|muscle contraction integrin complex collagen binding|receptor activity NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(19)|ovary(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 Lung NSC(810;5.05e-05)|Breast(144;0.0851) CCACTGAAAAGGACCTGCTGA 0.423000 34 69 0 0 1 0 0 BTBD7 55727 broad.mit.edu 37 14 93730195 93730195 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr14:93730195G>A ENST00000334746.5 - 4 1614 c.1307C>T c.(1306-1308)tCg>tTg p.S436L BTBD7_ENST00000554565.1_Missense_Mutation_p.S85L|BTBD7_ENST00000393170.2_Intron NM_001002860.2 NP_001002860.2 Q9P203 BTBD7_HUMAN BTB (POZ) domain containing 7 436 p.S436L(2) breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(8)|upper_aerodigestive_tract(1) 35 all_cancers(154;0.08) Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223) AAAAACATCCGAAGTCATGAC 0.423000 48 87 0 0 1 0 0 AGAP3 116988 broad.mit.edu 37 7 150835294 150835294 + Nonsense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:150835294G>A ENST00000397238.2 + 12 1560 c.1560G>A c.(1558-1560)tgG>tgA p.W520* AGAP3_ENST00000463381.1_Intron NM_031946.4 NP_114152.3 Q96P47 AGAP3_HUMAN ArfGAP with GTPase domain, ankyrin repeat and PH domain 3 484 PH. regulation of ARF GTPase activity|small GTPase mediated signal transduction cytoplasm|membrane ARF GTPase activator activity|GTP binding|GTPase activity|zinc ion binding central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|liver(2)|lung(9)|ovary(2)|prostate(3)|urinary_tract(1) 28 GCTCGGCCTGGGCTGGCCCGC 0.726000 27 33 0 0 1 0 0 PAPPA2 60676 broad.mit.edu 37 1 176759027 176759027 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:176759027C>T ENST00000367662.3 + 18 5962 c.4798C>T c.(4798-4800)Cct>Tct p.P1600S NM_020318.2 NP_064714.2 Q9BXP8 PAPP2_HUMAN pappalysin 2 1600 Sushi 4. cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1) 226 GCCACCCCCTCCTGTGTTTGA 0.478000 25 87 0 0 1 0 0 MAT1A 4143 broad.mit.edu 37 10 82040457 82040457 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:82040457C>T ENST00000372213.3 - 4 644 c.384G>A c.(382-384)gaG>gaA p.E128E NM_000429.2 NP_000420.1 Q00266 METK1_HUMAN methionine adenosyltransferase I, alpha 128 methylation|S-adenosylmethionine biosynthetic process|xenobiotic metabolic process cytosol ATP binding|metal ion binding|methionine adenosyltransferase activity endometrium(4)|large_intestine(7)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 26 Colorectal(32;0.229) L-Methionine(DB00134)|S-Adenosylmethionine(DB00118) CCCCCACATCCTCCTCATTTC 0.547000 5 184 0 0 1 0 0 PCMTD1 115294 broad.mit.edu 37 8 52733218 52733218 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:52733218C>T ENST00000360540.5 - 7 1173 c.767G>A c.(766-768)aGa>aAa p.R256K PCMTD1_ENST00000522514.1_Missense_Mutation_p.R256K|PCMTD1_ENST00000519559.1_5'UTR|PCMTD1_ENST00000544451.1_Missense_Mutation_p.R180K NM_052937.2 NP_443169.2 Q96MG8 PCMD1_HUMAN protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1 256 cytoplasm protein-L-isoaspartate (D-aspartate) O-methyltransferase activity NS(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(17)|prostate(2)|skin(8)|soft_tissue(1) 37 Lung NSC(129;0.0795)|all_lung(136;0.144) TATGAAATTTCTAAGTGTGCG 0.388000 8 151 0 0 1 0 0 NPNT 255743 broad.mit.edu 37 4 106861775 106861775 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:106861775G>A ENST00000379987.2 + 7 961 c.745G>A c.(745-747)Gat>Aat p.D249N NPNT_ENST00000453617.2_Missense_Mutation_p.D266N|NPNT_ENST00000427316.2_Missense_Mutation_p.D279N|NPNT_ENST00000305572.8_Missense_Mutation_p.D249N|NPNT_ENST00000514622.1_Missense_Mutation_p.D249N|NPNT_ENST00000506666.1_Missense_Mutation_p.D279N NM_001033047.2 NP_001028219.1 Q6UXI9 NPNT_HUMAN nephronectin 249 EGF-like 5; calcium-binding (Potential). cell differentiation membrane calcium ion binding kidney(5)|large_intestine(2)|lung(10)|prostate(2)|skin(1)|urinary_tract(1) 21 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;5.41e-07) ATACCAGGGTGATGGACTGAC 0.433000 42 104 0 0 1 0 0 EGFLAM 133584 broad.mit.edu 37 5 38350618 38350618 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:38350618G>A ENST00000322350.5 + 4 653 c.307G>A c.(307-309)Gat>Aat p.D103N EGFLAM_ENST00000354891.3_Missense_Mutation_p.D103N NM_152403.3 NP_689616.2 Q63HQ2 EGFLA_HUMAN EGF-like, fibronectin type III and laminin G domains 103 Fibronectin type-III 1. cell junction|proteinaceous extracellular matrix|synapse NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 85 all_lung(31;0.000385) AGTGATTGGAGATTTGAAACC 0.463000 46 180 0 0 1 0 0 GABRA2 2555 broad.mit.edu 37 4 46388181 46388181 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:46388181C>T ENST00000507460.1 - 3 429 c.97G>A c.(97-99)Gat>Aat p.D33N GABRA2_ENST00000381620.4_Missense_Mutation_p.D33N|GABRA2_ENST00000507069.1_Missense_Mutation_p.D33N|GABRA2_ENST00000356504.1_Missense_Mutation_p.D33N|GABRA2_ENST00000509716.1_5'UTR|GABRA2_ENST00000514090.1_Missense_Mutation_p.D33N|GABRA2_ENST00000510861.1_Missense_Mutation_p.D33N|GABRA2_ENST00000540012.1_5'UTR|GABRA2_ENST00000515082.1_Missense_Mutation_p.D33N P47869 GBRA2_HUMAN gamma-aminobutyric acid (GABA) A receptor, alpha 2 33 gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 56 Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) TTAGCCTCATCTTCTTGGATG 0.363000 16 41 0 0 1 0 0 AC005863.1 0 broad.mit.edu 37 17 14683192 14683192 + RNA SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:14683192C>T ENST00000379640.1 - 0 328 CTTACGAGTTCACAGCCAAGT 0.458000 35 110 0 0 1 0 0 CC2D1A 54862 broad.mit.edu 37 19 14037524 14037524 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:14037524C>T ENST00000318003.7 + 19 2300 c.2059C>T c.(2059-2061)Ccc>Tcc p.P687S CC2D1A_ENST00000589606.1_Missense_Mutation_p.P687S NM_017721.4 NP_060191.3 Q6P1N0 C2D1A_HUMAN coiled-coil and C2 domain containing 1A 687 C2. positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus|plasma membrane DNA binding|signal transducer activity NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(2)|skin(2) 27 OV - Ovarian serous cystadenocarcinoma(19;3.49e-23) GTTTGACTTCCCCTATCCCAA 0.622000 11 212 0 0 1 0 0 PCDH8 5100 broad.mit.edu 37 13 53421041 53421041 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr13:53421041G>A ENST00000377942.3 - 1 1734 c.1531C>T c.(1531-1533)Ccg>Tcg p.P511S PCDH8_ENST00000338862.4_Missense_Mutation_p.P511S NM_002590.3 NP_002581.2 O95206 PCDH8_HUMAN protocadherin 8 511 Cadherin 5. cell-cell signaling|homophilic cell adhesion cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane calcium ion binding breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1) 36 Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173) GBM - Glioblastoma multiforme(99;2.19e-08) GCGCCTGGCGGGTTGTTCTCG 0.731000 3 15 0 0 1 0 0 DNAH1 25981 broad.mit.edu 37 3 52412783 52412783 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:52412783C>T ENST00000420323.2 + 47 7625 c.7364C>T c.(7363-7365)cCg>cTg p.P2455L NM_015512.4 NP_056327.4 Q9P2D7 DYH1_HUMAN dynein, axonemal, heavy chain 1 2455 ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1) 62 BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) ATGGCTGACCCGGCCAAGGTC 0.627000 32 120 0 0 1 0 0 ANAPC2 29882 broad.mit.edu 37 9 140082303 140082303 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:140082303G>A ENST00000323927.2 - 2 374 c.370C>T c.(370-372)Ccc>Tcc p.P124S NM_013366.3 NP_037498.1 Q9UJX6 ANC2_HUMAN anaphase promoting complex subunit 2 124 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|cyclin catabolic process|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of synapse maturation|positive regulation of synaptic plasticity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination|regulation of cyclin-dependent protein kinase activity anaphase-promoting complex|cytosol|nucleoplasm ubiquitin protein ligase binding|ubiquitin-protein ligase activity breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1) 15 all_cancers(76;0.0926) STAD - Stomach adenocarcinoma(284;0.0698) OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.000858) CGCAGGTAGGGATCCAGGCGG 0.577000 50 119 0 0 1 0 0 HTR1F 3355 broad.mit.edu 37 3 88040110 88040110 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:88040110C>T ENST00000319595.4 + 1 265 c.211C>T c.(211-213)Ctt>Ttt p.L71F NM_000866.3 NP_000857.1 P30939 5HT1F_HUMAN 5-hydroxytryptamine (serotonin) receptor 1F, G protein-coupled 71 G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission integral to plasma membrane serotonin binding|serotonin receptor activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(1) 25 all_cancers(8;0.147) Lung NSC(201;0.0283) LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00664) Eletriptan(DB00216)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Zolmitriptan(DB00315) CACAGATTTTCTTGTGGCTGT 0.453000 26 95 0 0 1 0 0 CACNA2D2 9254 broad.mit.edu 37 3 50471844 50471844 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:50471844C>T ENST00000435965.1 - 3 478 c.305G>A c.(304-306)cGg>cAg p.R102Q CACNA2D2_ENST00000429770.1_Missense_Mutation_p.R102Q|CACNA2D2_ENST00000423994.2_Missense_Mutation_p.R102Q|CACNA2D2_ENST00000266039.3_Missense_Mutation_p.R102Q|CACNA2D2_ENST00000360963.3_Missense_Mutation_p.R33Q|CACNA2D2_ENST00000487413.1_5'UTR|CACNA2D2_ENST00000479441.1_Missense_Mutation_p.R102Q|CACNA2D2_ENST00000395083.1_Missense_Mutation_p.R102Q|CACNA2D2_ENST00000424201.2_Missense_Mutation_p.R102Q Q9NY47 CA2D2_HUMAN calcium channel, voltage-dependent, alpha 2/delta subunit 2 102 energy reserve metabolic process|regulation of insulin secretion integral to membrane|plasma membrane calcium channel activity|metal ion binding|voltage-gated ion channel activity breast(3)|cervix(1)|endometrium(4)|large_intestine(4)|lung(8)|ovary(2)|prostate(4)|skin(4)|urinary_tract(1) 31 BRCA - Breast invasive adenocarcinoma(193;0.000365)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01) Gabapentin(DB00996) GAACAGGTTCCGGTTGTCCTT 0.577000 48 93 0 0 1 0 0 BMP10 27302 broad.mit.edu 37 2 69098437 69098437 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:69098437C>T ENST00000295379.1 - 1 212 c.54G>A c.(52-54)ttG>ttA p.L18L NM_014482.1 NP_055297.1 O95393 BMP10_HUMAN bone morphogenetic protein 10 18 activin receptor signaling pathway|adult heart development|atrial cardiac muscle tissue morphogenesis|BMP signaling pathway|cardiac muscle cell proliferation|heart trabecula formation|negative regulation of cardiac muscle hypertrophy|negative regulation of cell growth|negative regulation of endothelial cell migration|Notch signaling pathway|pathway-restricted SMAD protein phosphorylation|positive regulation of cardiac muscle cell proliferation|positive regulation of cardiac muscle hypertrophy|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent|sarcomere organization|ventricular cardiac muscle cell development|ventricular cardiac muscle tissue morphogenesis cell surface|extracellular space|Z disc cytokine activity|growth factor activity|receptor serine/threonine kinase binding breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(15)|ovary(2) 27 TGCCAGAAACCAAGTAAGCTG 0.527000 43 80 0 0 1 0 0 CDH8 1006 broad.mit.edu 37 16 61747794 61747794 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr16:61747794G>A ENST00000577390.1 - 10 2559 c.1605C>T c.(1603-1605)ctC>ctT p.L535L CDH8_ENST00000580044.1_5'UTR|CDH8_ENST00000299345.6_Silent_p.L535L|CDH8_ENST00000577730.1_Silent_p.L535L NM_001796.4 NP_001787.2 P55286 CADH8_HUMAN cadherin 8, type 2 535 Cadherin 5. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4) 112 Ovarian(137;0.0799)|Melanoma(118;0.16) UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249) TTTCTGGAAGGAGACTGTATA 0.348000 28 31 0 0 1 0 0 BCLAF1 9774 broad.mit.edu 37 6 136599530 136599530 + Missense_Mutation SNP T T A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:136599530T>A ENST00000531224.1 - 4 741 c.489A>T c.(487-489)gaA>gaT p.E163D BCLAF1_ENST00000527536.1_Missense_Mutation_p.E163D|BCLAF1_ENST00000530767.1_Missense_Mutation_p.E163D|BCLAF1_ENST00000392348.2_Missense_Mutation_p.E161D|BCLAF1_ENST00000527759.1_Missense_Mutation_p.E161D|BCLAF1_ENST00000353331.4_Missense_Mutation_p.E161D NM_001077441.1|NM_014739.2 NP_001070909.1|NP_055554.1 Q9NYF8 BCLF1_HUMAN BCL2-associated transcription factor 1 163 induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus DNA binding|protein binding haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1) 9 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331) TGGTTTGTTTTTCCTGAGACC 0.433000 58 309 0 0 1 0 0 TENM4 26011 broad.mit.edu 37 11 78381264 78381264 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:78381264C>T ENST00000278550.7 - 32 6588 c.6126G>A c.(6124-6126)aaG>aaA p.K2042K NM_001098816.2 NP_001092286.2 teneurin transmembrane protein 4 GGTTGATGGTCTTCAGCATGC 0.527000 18 42 0 0 1 0 0 ZNF662 389114 broad.mit.edu 37 3 42950305 42950305 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:42950305C>T ENST00000541208.1 + 3 424 c.55C>T c.(55-57)Ccg>Tcg p.P19S KRBOX1_ENST00000426937.1_5'UTR|ZNF662_ENST00000328199.6_Missense_Mutation_p.P79S|ZNF662_ENST00000440367.2_Missense_Mutation_p.P19S|ZNF662_ENST00000422021.1_Missense_Mutation_p.P19S|ZNF662_ENST00000430067.2_3'UTR Q6ZS27 ZN662_HUMAN zinc finger protein 662 19 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(1)|large_intestine(6)|lung(5)|upper_aerodigestive_tract(1) 15 KIRC - Kidney renal clear cell carcinoma(284;0.217) ATTTCCCAAACCGGCTCTGAT 0.572000 100 220 0 0 1 0 0 SOX13 9580 broad.mit.edu 37 1 204092086 204092086 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:204092086C>T ENST00000367204.1 + 10 1238 c.1129C>T c.(1129-1131)Cgt>Tgt p.R377C NM_005686.2 NP_005677.2 Q9UN79 SOX13_HUMAN SRY (sex determining region Y)-box 13 377 anatomical structure morphogenesis nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(2)|prostate(2) 13 all_cancers(21;0.0754)|Breast(84;0.116)|all_epithelial(62;0.189) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109) CACCCCCTTCCGTAAGGTATG 0.622000 3 25 0 0 1 0 0 FLT1 2321 broad.mit.edu 37 13 28877400 28877400 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr13:28877400G>A ENST00000282397.4 - 30 4172 c.3921C>T c.(3919-3921)ttC>ttT p.F1307F FLT1_ENST00000540678.1_Silent_p.F525F|FLT1_ENST00000543394.1_Silent_p.F330F NM_002019.4 NP_002010.2 P17948 VGFR1_HUMAN fms-related tyrosine kinase 1 1307 cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway extracellular space|Golgi apparatus|integral to plasma membrane|nucleus ATP binding|growth factor binding|vascular endothelial growth factor receptor activity NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 115 Acute lymphoblastic leukemia(6;0.04) Lung SC(185;0.0262)|Breast(139;0.188) Colorectal(13;0.000674) all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207) Sunitinib(DB01268) GGTCGTAGGTGAACCTGCGCT 0.577000 42 87 0 0 1 0 0 CNRIP1 25927 broad.mit.edu 37 2 68521038 68521038 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:68521038C>T ENST00000263655.3 - 3 1056 c.451G>A c.(451-453)Gag>Aag p.E151K CNRIP1_ENST00000481714.1_5'UTR|CNRIP1_ENST00000409559.3_Intron NM_015463.2 NP_056278.1 Q96F85 CNRP1_HUMAN cannabinoid receptor interacting protein 1 151 protein binding kidney(1)|large_intestine(5)|liver(1)|lung(1)|skin(1) 9 CTGCGTGTCTCGTTGGGCTTG 0.468000 14 104 0 0 1 0 0 PAX8 7849 broad.mit.edu 37 2 114000313 114000313 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:114000313C>T ENST00000429538.3 - 5 626 c.432G>A c.(430-432)atG>atA p.M144I AC016683.6_ENST00000553869.2_RNA|AC016683.6_ENST00000445745.1_RNA|AC016683.6_ENST00000333145.5_RNA|PAX8_ENST00000397647.3_Missense_Mutation_p.M144I|PAX8_ENST00000348715.5_Missense_Mutation_p.M144I|PAX8_ENST00000263334.5_Missense_Mutation_p.M144I|PAX8_ENST00000263335.7_Missense_Mutation_p.M144I|AC016683.6_ENST00000556070.1_RNA|AC016683.6_ENST00000422956.1_RNA|AC016683.6_ENST00000436293.2_RNA|AC016683.6_ENST00000451179.1_RNA NM_003466.3 NP_003457.1 Q06710 PAX8_HUMAN paired box 8 144 branching involved in ureteric bud morphogenesis|cellular response to gonadotropin stimulus|central nervous system development|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesonephros development|metanephric collecting duct development|metanephric comma-shaped body morphogenesis|metanephric distal convoluted tubule development|metanephric nephron tubule formation|metanephric S-shaped body morphogenesis|negative regulation of mesenchymal stem cell apoptosis involved in metanephric nephron morphogenesis|otic vesicle development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of metanephric DCT cell differentiation|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|pronephric field specification|regulation of metanephric nephron tubule epithelial cell differentiation|regulation of thyroid-stimulating hormone secretion|thyroid gland development|transcription, DNA-dependent nucleoplasm protein binding|RNA polymerase II core promoter sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|thyroid-stimulating hormone receptor activity PAX8/PPARG(117) breast(1)|endometrium(4)|kidney(2)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|skin(1) 20 CGCAGCTGTCCATAGGGAGGT 0.532000 T PPARG follicular thyroid Thyroid dysgenesis 13 149 0 0 1 0 0 ACACB 32 broad.mit.edu 37 12 109700204 109700204 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:109700204C>T ENST00000338432.7 + 49 6836 c.6717C>T c.(6715-6717)ttC>ttT p.F2239F ACACB_ENST00000377848.3_Silent_p.F2239F|ACACB_ENST00000377854.5_Silent_p.F2169F|ACACB_ENST00000543201.1_3'UTR O00763 ACACB_HUMAN acetyl-CoA carboxylase beta 2239 Carboxyltransferase. acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation cytosol|endomembrane system|Golgi apparatus|membrane acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 Biotin(DB00121) AGATTAAGTTCCGAAAGAAAG 0.502000 20 45 0 0 1 0 0 OR2T33 391195 broad.mit.edu 37 1 248436677 248436677 + Nonsense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:248436677C>T ENST00000318021.2 - 1 461 c.440G>A c.(439-441)tGg>tAg p.W147* NM_001004695.1 NP_001004695.1 Q8NG76 O2T33_HUMAN olfactory receptor, family 2, subfamily T, member 33 147 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4) 67 all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0245) ACCCAGGAGCCAACACGACAT 0.592000 42 259 0 0 1 0 0 CEP128 145508 broad.mit.edu 37 14 81371271 81371271 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr14:81371271G>A ENST00000555265.1 - 6 741 c.366C>T c.(364-366)ctC>ctT p.L122L CEP128_ENST00000327841.2_Silent_p.L62L|CEP128_ENST00000281129.3_Silent_p.L122L|CEP128_ENST00000216517.6_Silent_p.L122L Q6ZU80 CE128_HUMAN centrosomal protein 128kDa 122 centriole|spindle pole NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 51 GAAAATGATGGAGCTCTTCAC 0.403000 39 61 0 0 1 0 0 BEND3 57673 broad.mit.edu 37 6 107390490 107390490 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:107390490G>A ENST00000429433.2 - 5 2554 c.1905C>T c.(1903-1905)ttC>ttT p.F635F BEND3_ENST00000369042.1_Silent_p.F635F NM_001080450.2 NP_001073919.1 Q5T5X7 BEND3_HUMAN BEN domain containing 3 635 BEN 3. central_nervous_system(1)|cervix(2)|endometrium(3)|large_intestine(7)|lung(10)|ovary(4)|prostate(3) 30 GTTTGCCCACGAACTCCAGGG 0.657000 25 48 0 0 1 0 0 WDR49 151790 broad.mit.edu 37 3 167217996 167217996 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:167217996C>T ENST00000308378.3 - 14 2225 c.1920G>A c.(1918-1920)agG>agA p.R640R WDR49_ENST00000479765.1_Intron|WDR49_ENST00000453925.2_Silent_p.R605R|WDR49_ENST00000476376.1_Silent_p.R465R NM_178824.3 NP_849146.1 Q8IV35 WDR49_HUMAN WD repeat domain 49 640 breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 50 CTGGTTCTTTCCTAAAGTATT 0.438000 112 170 0 0 1 0 0 FOLH1B 219595 broad.mit.edu 37 11 89431725 89431725 + RNA SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:89431725C>T ENST00000532352.1 + 0 2007 Q9HBA9 FOH1B_HUMAN folate hydrolase 1B proteolysis cytoplasm dipeptidase activity|metal ion binding|metallopeptidase activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2) 48 TTGCAGCCTTCACAGTGCAGG 0.428000 41 88 0 0 1 0 0 DEFB1 1672 broad.mit.edu 37 8 6735375 6735375 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:6735375C>T ENST00000297439.3 - 1 169 c.5G>A c.(4-6)aGa>aAa p.R2K NM_005218.3 NP_005209.1 P60022 DEFB1_HUMAN defensin, beta 1 2 chemotaxis|defense response to bacterium|G-protein coupled receptor protein signaling pathway|innate immune response extracellular region lung(1) 1 STAD - Stomach adenocarcinoma(24;0.0984) COAD - Colon adenocarcinoma(149;0.0162)|READ - Rectum adenocarcinoma(644;0.128) GTAGGAAGTTCTCATGGCGAC 0.562000 25 67 0 0 1 0 0 OBP2B 29989 broad.mit.edu 37 9 136082625 136082625 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:136082625C>T ENST00000372034.3 - 4 417 c.376G>A c.(376-378)Gga>Aga p.G126R OBP2B_ENST00000372032.2_Missense_Mutation_p.G81E|OBP2B_ENST00000461961.1_5'UTR NM_014581.2 NP_055396.1 Q9NPH6 OBP2B_HUMAN odorant binding protein 2B 126 chemosensory behavior|sensory perception of smell extracellular region odorant binding|transporter activity central_nervous_system(2)|large_intestine(1)|lung(3)|skin(1) 7 OV - Ovarian serous cystadenocarcinoma(145;3.41e-06)|Epithelial(140;1.88e-05) ACAAGCTTTCCCATGTGGAGC 0.617000 32 58 0 0 1 0 0 C4orf26 152816 broad.mit.edu 37 4 76489445 76489445 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:76489445C>T ENST00000435974.2 + 3 251 c.233C>T c.(232-234)cCa>cTa p.P78L C4orf26_ENST00000311623.4_Silent_p.P63P NM_001206981.1 NP_001193910.1 Q17RF5 CD026_HUMAN chromosome 4 open reading frame 26 0 extracellular region kidney(1)|large_intestine(4)|stomach(1) 6 Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122) GGGCCCAGCCCATCACAAAGA 0.527000 46 91 0 0 1 0 0 RBM33 155435 broad.mit.edu 37 7 155567726 155567726 + Silent SNP C C T rs139259621 TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:155567726C>T ENST00000401878.3 + 18 3702 c.3504C>T c.(3502-3504)atC>atT p.I1168I RBM33_ENST00000341148.3_Silent_p.I104I NM_053043.2 NP_444271.2 Q96EV2 RBM33_HUMAN RNA binding motif protein 33 1168 RRM. nucleotide binding|RNA binding breast(3)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1) 27 all_neural(206;0.101) all_hematologic(28;0.0592) OV - Ovarian serous cystadenocarcinoma(82;0.011) UCEC - Uterine corpus endometrioid carcinoma (81;0.2) TGGCCCTGATCGTGGAGTGAG 0.502000 4 115 0 0 1 0 0 GPR116 221395 broad.mit.edu 37 6 46826100 46826100 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:46826100C>T ENST00000283296.7 - 17 3828 c.3540G>A c.(3538-3540)ctG>ctA p.L1180L GPR116_ENST00000456426.2_Silent_p.L1038L|GPR116_ENST00000362015.4_Silent_p.L1180L|GPR116_ENST00000265417.7_Silent_p.L1180L|GPR116_ENST00000545669.1_Silent_p.L609L NM_001098518.1 NP_001091988.1 Q8IZF2 GP116_HUMAN G protein-coupled receptor 116 1180 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 59 Lung(136;0.192) CCACAATGATCAGTGCTGGGA 0.547000 80 66 0 0 1 0 0 SERPINB2 5055 broad.mit.edu 37 18 61570257 61570257 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr18:61570257C>T ENST00000457692.1 + 9 1299 c.966C>T c.(964-966)tcC>tcT p.S322S SERPINB2_ENST00000299502.4_Silent_p.S322S NM_001143818.1 NP_001137290.1 P05120 PAI2_HUMAN serpin peptidase inhibitor, clade B (ovalbumin), member 2 322 anti-apoptosis|blood coagulation|fibrinolysis|regulation of proteolysis extracellular space|Golgi apparatus|plasma membrane serine-type endopeptidase inhibitor activity NS(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|liver(1)|lung(12)|prostate(2)|skin(2)|stomach(1) 32 Esophageal squamous(42;0.131) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013) AACTCAGATCCATTCTGAGAA 0.453000 24 69 0 0 1 0 0 AGBL1 123624 broad.mit.edu 37 15 86822874 86822874 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr15:86822874C>T ENST00000441037.2 + 15 2037 c.1942C>T c.(1942-1944)Cat>Tat p.H648Y AGBL1_ENST00000389298.3_Missense_Mutation_p.H379Y|AGBL1_ENST00000421325.2_Missense_Mutation_p.H648Y NM_152336.2 NP_689549.2 Q96MI9 CBPC4_HUMAN ATP/GTP binding protein-like 1 648 C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis cytosol metallocarboxypeptidase activity|tubulin binding|zinc ion binding NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 62 cttTAGAAATCATTATCGCCA 0.498000 31 51 0 0 1 0 0 GRIN2A 2903 broad.mit.edu 37 16 9858656 9858656 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr16:9858656C>T ENST00000396573.2 - 14 3054 c.2745G>A c.(2743-2745)atG>atA p.M915I GRIN2A_ENST00000330684.3_Missense_Mutation_p.M915I|GRIN2A_ENST00000562109.1_Missense_Mutation_p.M915I|GRIN2A_ENST00000535259.1_Missense_Mutation_p.M758I|GRIN2A_ENST00000404927.2_Missense_Mutation_p.M915I|GRIN2A_ENST00000396575.2_Missense_Mutation_p.M915I NM_000833.3 NP_000824.1 Q12879 NMDE1_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2A 915 response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1) 198 Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) TGGGTGAGTCCATTCTTGAGG 0.463000 97 188 0 0 1 0 0 DTNA 1837 broad.mit.edu 37 18 32391985 32391985 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr18:32391985C>T ENST00000283365.9 + 7 862 c.511C>T c.(511-513)Ctt>Ttt p.L171F DTNA_ENST00000399121.5_Missense_Mutation_p.L171F|DTNA_ENST00000598774.1_Missense_Mutation_p.L171F|DTNA_ENST00000596745.1_Missense_Mutation_p.L171F|DTNA_ENST00000399097.3_5'UTR|DTNA_ENST00000269191.6_Missense_Mutation_p.L171F|DTNA_ENST00000399113.3_Missense_Mutation_p.L171F|DTNA_ENST00000315456.6_Missense_Mutation_p.L171F|DTNA_ENST00000554864.3_Missense_Mutation_p.L171F|DTNA_ENST00000348997.5_Missense_Mutation_p.L171F|DTNA_ENST00000598142.1_Missense_Mutation_p.L171F|DTNA_ENST00000444659.1_Missense_Mutation_p.L171F|DTNA_ENST00000269190.7_Missense_Mutation_p.L171F|DTNA_ENST00000595022.1_Missense_Mutation_p.L171F|DTNA_ENST00000598334.1_Missense_Mutation_p.L171F|DTNA_ENST00000597599.1_Missense_Mutation_p.L171F NM_032975.3 NP_116757.2 Q9Y4J8 DTNA_HUMAN dystrobrevin, alpha 171 Interaction with MAGEE1 (By similarity). neuromuscular synaptic transmission|signal transduction|striated muscle contraction cell junction|cytoplasm|synapse calcium ion binding|protein binding|zinc ion binding endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(2)|lung(19)|prostate(1)|upper_aerodigestive_tract(1) 29 TGACCAATTCCTTCGGGAAGT 0.418000 4 102 0 0 1 0 0 ZNF681 148213 broad.mit.edu 37 19 23927064 23927064 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:23927064C>T ENST00000402377.3 - 4 1429 c.1288G>A c.(1288-1290)Gct>Act p.A430T ZNF681_ENST00000395385.3_Missense_Mutation_p.A361T NM_138286.2 NP_612143.2 Q96N22 ZN681_HUMAN zinc finger protein 681 430 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(3) 21 all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206) TGGTTAGAAGCTTTGCCACAT 0.378000 15 47 0 0 1 0 0 DOCK11 139818 broad.mit.edu 37 X 117819679 117819679 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chrX:117819679C>T ENST00000276204.6 + 53 6217 c.6143C>T c.(6142-6144)cCc>cTc p.P2048L DOCK11_ENST00000276202.7_Missense_Mutation_p.P2044L Q5JSL3 DOC11_HUMAN dedicator of cytokinesis 11 2044 blood coagulation cytosol GTP binding breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1) 84 ATGCATTCTCCCTGGATGAGC 0.378000 77 32 0 0 1 0 0 CDKL5 6792 broad.mit.edu 37 X 18622593 18622593 + Missense_Mutation SNP T T C TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chrX:18622593T>C ENST00000379989.3 + 13 1834 c.1549T>C c.(1549-1551)Ttc>Ctc p.F517L CDKL5_ENST00000463994.1_3'UTR|CDKL5_ENST00000379996.3_Missense_Mutation_p.F517L NM_001037343.1 NP_001032420.1 O76039 CDKL5_HUMAN cyclin-dependent kinase-like 5 517 neuron migration|positive regulation of axon extension|positive regulation of dendrite morphogenesis|positive regulation of Rac GTPase activity|protein autophosphorylation dendrite cytoplasm|dendritic growth cone|nucleus ATP binding|cyclin-dependent protein kinase activity|Rac GTPase binding NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|skin(5)|stomach(1) 44 Hepatocellular(33;0.183) CAGTAGGTACTTCCCATCTAG 0.537000 79 189 0 0 1 0 0 TAOK1 57551 broad.mit.edu 37 17 27794234 27794234 + Splice_Site SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:27794234G>A ENST00000261716.3 + 3 723 c.204_splice c.e3+1 p.E68_splice TAOK1_ENST00000536202.1_Splice_Site_p.E68_splice NM_020791.2 NP_065842.1 Q7L7X3 TAOK1_HUMAN TAO kinase 1 68 Protein kinase. mitotic prometaphase cytosol|intracellular membrane-bounded organelle ATP binding|protein serine/threonine kinase activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 28 Colorectal(6;0.198) AGTCTACTGAGGTAGGTTAAA 0.353000 24 55 0 0 1 0 0 SPERT 220082 broad.mit.edu 37 13 46287593 46287593 + Missense_Mutation SNP C C T rs5803307 TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr13:46287593C>T ENST00000378966.3 + 2 741 c.325C>T c.(325-327)Ccc>Tcc p.P109S SPERT_ENST00000310521.1_Missense_Mutation_p.P145S Q8NA61 SPERT_HUMAN spermatid associated 145 cytoplasmic membrane-bounded vesicle NS(1)|central_nervous_system(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(1) 15 Breast(56;0.000819)|Lung NSC(96;0.00227)|Prostate(109;0.00703)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;7.26e-05) CCTGCAGTCTCCCTACTTCTC 0.617000 58 111 0 0 1 0 0 TRIM51 84767 broad.mit.edu 37 11 55658701 55658701 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:55658701G>A ENST00000449290.2 + 7 1044 c.952G>A c.(952-954)Gat>Aat p.D318N TRIM51_ENST00000244891.3_Missense_Mutation_p.D175N NM_032681.3 NP_116070.2 Q9BSJ1 SPRY5_HUMAN tripartite motif-containing 51 318 B30.2/SPRY. intracellular zinc ion binding p.D318N(1)|p.D159N(1) CCCTCAAGATGATCCCGATAT 0.428000 62 127 0 0 1 0 0 TACR3 6870 broad.mit.edu 37 4 104512811 104512811 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:104512811C>T ENST00000304883.2 - 4 1058 c.918G>A c.(916-918)atG>atA p.M306I RP11-297P16.3_ENST00000512401.1_RNA|RP11-297P16.3_ENST00000502936.1_RNA NM_001059.2 NP_001050.1 P29371 NK3R_HUMAN tachykinin receptor 3 306 integral to plasma membrane tachykinin receptor activity breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 51 Hepatocellular(203;0.217) UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08) TAGCAAATGTCATGACAACAA 0.323000 13 28 0 0 1 0 0 ZNF665 79788 broad.mit.edu 37 19 53678714 53678714 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:53678714C>T ENST00000396424.3 - 3 215 c.126G>A c.(124-126)agG>agA p.R42R ZNF665_ENST00000600412.1_Intron NM_024733.3 NP_079009.3 Q9H7R5 ZN665_HUMAN zinc finger protein 665 0 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 35 GBM - Glioblastoma multiforme(134;0.0196) AGACCAGGTTCCTATAATTCT 0.483000 9 209 0 0 1 0 0 USP34 9736 broad.mit.edu 37 2 61475717 61475717 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:61475717G>A ENST00000398571.2 - 49 6399 c.6323C>T c.(6322-6324)tCc>tTc p.S2108F NM_014709.3 NP_055524.3 Q70CQ2 UBP34_HUMAN ubiquitin specific peptidase 34 2108 positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2) 138 Epithelial(17;0.229) TAATGGGAAGGAAAAGTGTGT 0.358000 22 60 0 0 1 0 0 PIK3R5 23533 broad.mit.edu 37 17 8789597 8789597 + Missense_Mutation SNP G G A rs146444401 TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:8789597G>A ENST00000447110.1 - 14 2201 c.2077C>T c.(2077-2079)Cac>Tac p.H693Y PIK3R5_ENST00000581552.1_Missense_Mutation_p.H693Y|PIK3R5_ENST00000584803.1_Missense_Mutation_p.H692Y NM_001142633.2|NM_001251851.1|NM_001251852.1|NM_001251853.1|NM_001251855.1 NP_001136105.1|NP_001238780.1|NP_001238781.1|NP_001238782.1|NP_001238784.1 Q8WYR1 PI3R5_HUMAN phosphoinositide-3-kinase, regulatory subunit 5 693 Interaction with G beta gamma proteins (By similarity). platelet activation cytosol|membrane|nucleus breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1) 34 TCCAAGGAGTGGATGAAGATC 0.607000 14 45 0 0 1 0 0 TACR1 6869 broad.mit.edu 37 2 75425722 75425722 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:75425722G>A ENST00000305249.4 - 1 1104 c.339C>T c.(337-339)atC>atT p.I113I TACR1_ENST00000409848.3_Silent_p.I113I NM_001058.3 NP_001049.1 P25103 NK1R_HUMAN tachykinin receptor 1 113 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|detection of abiotic stimulus|mechanosensory behavior integral to plasma membrane protein binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(8)|ovary(1)|skin(1) 24 Aprepitant(DB00673)|Ketamine(DB01221)|Vapreotide(DB04894) AGACAGCGGCGATGGGAAAGA 0.498000 8 172 0 0 1 0 0 IGF1R 3480 broad.mit.edu 37 15 99451935 99451935 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr15:99451935C>T ENST00000268035.6 + 6 1880 c.1269C>T c.(1267-1269)ctC>ctT p.L423L IGF1R_ENST00000558762.1_Silent_p.L423L NM_000875.3 NP_000866.1 P08069 IGF1R_HUMAN insulin-like growth factor 1 receptor 423 anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization microsome ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 63 all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163) Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277) TCTACGTCCTCGACAACCAGA 0.502000 16 30 0 0 1 0 0 GIMAP7 168537 broad.mit.edu 37 7 150217156 150217156 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:150217156G>A ENST00000313543.4 + 2 251 c.94G>A c.(94-96)Gaa>Aaa p.E32K NM_153236.3 NP_694968.1 Q8NHV1 GIMA7_HUMAN GTPase, IMAP family member 7 32 GTP binding breast(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1) 17 OV - Ovarian serous cystadenocarcinoma(82;0.0218) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) CCTTGGAGAGGAAATCTTTGA 0.507000 16 76 0 0 1 0 0 ZIM3 114026 broad.mit.edu 37 19 57648291 57648291 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:57648291C>T ENST00000269834.1 - 4 576 c.191G>A c.(190-192)gGa>gAa p.G64E NM_052882.1 NP_443114.1 Q96PE6 ZIM3_HUMAN zinc finger, imprinted 3 64 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(27)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1) 52 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) TGGCTCCTTTCCTTGTTCCAA 0.522000 53 116 0 0 1 0 0 HSD17B4 3295 broad.mit.edu 37 5 118814691 118814691 + Translation_Start_Site SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:118814691G>A ENST00000509514.1 + 0 344 HSD17B4_ENST00000510025.1_Silent_p.R175R|HSD17B4_ENST00000504811.1_Silent_p.R224R|HSD17B4_ENST00000515320.1_Silent_p.R181R|HSD17B4_ENST00000414835.2_Silent_p.R59R|HSD17B4_ENST00000513628.1_Silent_p.R62R|HSD17B4_ENST00000256216.6_Silent_p.R199R P51659 DHB4_HUMAN hydroxysteroid (17-beta) dehydrogenase 4 bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase peroxisomal matrix 3-hydroxyacyl-CoA dehydrogenase activity|3alpha,7alpha,12alpha-trihydroxy-5beta-cholest-24-enoyl-CoA hydratase activity|estradiol 17-beta-dehydrogenase activity|isomerase activity|long-chain-enoyl-CoA hydratase activity|protein binding|sterol binding|sterol transporter activity breast(2)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(2) 25 all_cancers(142;0.0206)|Prostate(80;0.0322) OV - Ovarian serous cystadenocarcinoma(64;0.000247)|Epithelial(69;0.000849)|all cancers(49;0.0122) NADH(DB00157) CGGGATCACGGATGACTCAGA 0.403000 11 169 0 0 1 0 0 OTOGL 283310 broad.mit.edu 37 12 80663926 80663926 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:80663926C>T ENST00000458043.2 + 22 2489 c.2483C>T c.(2482-2484)cCc>cTc p.P828L OTOGL_ENST00000547103.1_Missense_Mutation_p.P828L NM_173591.3 NP_775862.3 otogelin-like breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1) 23 TTAGCAACGCCCTCTGCTGGT 0.383000 OREG0011204|OREG0022007 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)|type=TRANSCRIPTION FACTOR BINDING SITE|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip); Conservation found by scanning with a motif model 14 25 0 0 1 0 0 LIFR 3977 broad.mit.edu 37 5 38490298 38490298 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:38490298C>T ENST00000263409.4 - 15 2323 c.2161G>A c.(2161-2163)Gaa>Aaa p.E721K LIFR_ENST00000453190.2_Missense_Mutation_p.E721K NM_002310.5 NP_002301.1 P42702 LIFR_HUMAN leukemia inhibitory factor receptor alpha 721 positive regulation of cell proliferation extracellular region|integral to plasma membrane ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2) 78 all_lung(31;0.00021) TTACCCAATTCTTCTATATAT 0.299000 T PLAG1 salivary adenoma 36 165 0 0 1 0 0 PQBP1 10084 broad.mit.edu 37 X 48755850 48755850 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chrX:48755850C>T ENST00000218224.4 + 1 312 c.58C>T c.(58-60)Ctg>Ttg p.L20L PQBP1_ENST00000447146.2_Silent_p.L20L|PQBP1_ENST00000376548.5_Silent_p.L20L|PQBP1_ENST00000396763.1_Silent_p.L20L|PQBP1_ENST00000376563.1_Silent_p.L20L|PQBP1_ENST00000247140.4_Silent_p.L20L|PQBP1_ENST00000473764.1_3'UTR|PQBP1_ENST00000376566.4_Silent_p.L20L NM_005710.2 NP_005701.1 O60828 PQBP1_HUMAN polyglutamine binding protein 1 20 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|transcription coactivator activity breast(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(2) 11 CCTCAAACATCTGGAGCCTGG 0.542000 22 16 0 0 1 0 0 CD200R1L 344807 broad.mit.edu 37 3 112545918 112545918 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:112545918C>T ENST00000488794.1 - 6 1127 c.538G>A c.(538-540)Gag>Aag p.E180K CD200R1L_ENST00000448932.1_Missense_Mutation_p.E180K|CD200R1L_ENST00000398214.1_Missense_Mutation_p.E201K Q6Q8B3 MO2R2_HUMAN CD200 receptor 1-like 201 Ig-like C2-type. integral to membrane receptor activity breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|urinary_tract(2) 19 TTGTGGCCCTCCCAGGGGCAT 0.507000 35 58 0 0 1 0 0 MTUS1 57509 broad.mit.edu 37 8 17611420 17611420 + Silent SNP A A G TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:17611420A>G ENST00000381869.3 - 2 2370 c.1897T>C c.(1897-1899)Ttg>Ctg p.L633L MTUS1_ENST00000381862.3_Silent_p.L633L|MTUS1_ENST00000262102.6_Silent_p.L633L|MTUS1_ENST00000519263.1_Silent_p.L633L NM_001001925.2 NP_001001925.1 Q9ULD2 MTUS1_HUMAN microtubule associated tumor suppressor 1 633 Golgi apparatus|microtubule|microtubule organizing center|mitochondrion|nucleus|plasma membrane|spindle breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(14)|lung(8)|ovary(1)|skin(2)|urinary_tract(1) 36 Colorectal(111;0.0778) TTCTGAAACAACGCAGAAACG 0.438000 8 133 0 0 1 0 0 COL3A1 1281 broad.mit.edu 37 2 189859554 189859554 + Missense_Mutation SNP A A T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:189859554A>T ENST00000304636.3 + 20 1622 c.1452A>T c.(1450-1452)gaA>gaT p.E484D COL3A1_ENST00000317840.5_Missense_Mutation_p.E484D NM_000090.3 NP_000081.1 P02461 CO3A1_HUMAN collagen, type III, alpha 1 484 Triple-helical region. axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway collagen type III|extracellular space extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3) 126 OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141) Collagenase(DB00048)|Palifermin(DB00039) CTGCAGGAGAAAGGGTACGTT 0.473000 6 116 0 0 1 0 0 PALM2-AKAP2 445815 broad.mit.edu 37 9 112918668 112918668 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:112918668C>T ENST00000374530.3 + 9 3245 c.3065C>T c.(3064-3066)gCc>gTc p.A1022V AKAP2_ENST00000555236.1_Missense_Mutation_p.A1022V|AKAP2_ENST00000510514.5_Missense_Mutation_p.A1022V|AKAP2_ENST00000259318.7_Missense_Mutation_p.A791V|AKAP2_ENST00000374525.1_Missense_Mutation_p.A880V|AKAP2_ENST00000482335.1_Intron|AKAP2_ENST00000434623.2_Missense_Mutation_p.A880V|PALM2-AKAP2_ENST00000302798.7_Missense_Mutation_p.A1022V NM_007203.4|NM_147150.2 NP_009134.1|NP_671492.1 Q9Y2D5 AKAP2_HUMAN 791 enzyme binding breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 44 CCTGACTTAGCCCCTGAAGAG 0.507000 45 70 0 0 1 0 0 SERPINA13P 388007 broad.mit.edu 37 14 95109995 95109995 + RNA SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr14:95109995C>T ENST00000469935.1 + 0 1032 NR_015340.1 TTCATCTTCCCCAACAGGGGC 0.582000 14 28 0 0 1 0 0 PCDH18 54510 broad.mit.edu 37 4 138450883 138450883 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:138450883C>T ENST00000344876.4 - 1 2746 c.2360G>A c.(2359-2361)aGa>aAa p.R787K PCDH18_ENST00000511115.1_Intron|PCDH18_ENST00000510305.1_5'UTR|PCDH18_ENST00000507846.1_Missense_Mutation_p.R567K|PCDH18_ENST00000412923.2_Missense_Mutation_p.R787K NM_019035.3 NP_061908.1 Q9HCL0 PCD18_HUMAN protocadherin 18 787 brain development|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 86 all_hematologic(180;0.24) CATCTGCCCTCTTTCTAAGGT 0.473000 28 51 0 0 1 0 0 CCDC135 84229 broad.mit.edu 37 16 57760012 57760012 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr16:57760012G>A ENST00000360716.3 + 14 2012 c.1791G>A c.(1789-1791)gcG>gcA p.A597A CCDC135_ENST00000336825.8_Silent_p.A532A|CCDC135_ENST00000394337.4_Silent_p.A597A Q8IY82 CC135_HUMAN coiled-coil domain containing 135 597 cytoplasm breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 30 GCAACCCAGCGAAGCCCGCGG 0.602000 5 28 0 0 1 0 0 CYP2C8 1558 broad.mit.edu 37 10 96827327 96827327 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:96827327C>T ENST00000371270.3 - 2 384 c.290G>A c.(289-291)aGa>aAa p.R97K CYP2C8_ENST00000535898.1_Intron|CYP2C8_ENST00000539050.1_5'UTR NM_000770.3|NM_001198853.1|NM_001198855.1 NP_000761.3|NP_001185782.1|NP_001185784.1 P10632 CP2C8_HUMAN cytochrome P450, family 2, subfamily C, polypeptide 8 97 exogenous drug catabolic process|organic acid metabolic process|oxidative demethylation|xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|caffeine oxidase activity|electron carrier activity|heme binding|oxygen binding breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|skin(3) 21 Colorectal(252;0.0397) all cancers(201;6.21e-05) Aminophenazone(DB01424)|Amiodarone(DB01118)|Amodiaquine(DB00613)|Benzphetamine(DB00865)|Carbamazepine(DB00564)|Cerivastatin(DB00439)|Diclofenac(DB00586)|Fluvastatin(DB01095)|Fosphenytoin(DB01320)|Gemfibrozil(DB01241)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lovastatin(DB00227)|Midazolam(DB00683)|Montelukast(DB00471)|Nicardipine(DB00622)|Paclitaxel(DB01229)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Repaglinide(DB00912)|Rifampin(DB01045)|Rosiglitazone(DB00412)|Simvastatin(DB00641)|Sitagliptin(DB01261)|Tolbutamide(DB01124)|Torasemide(DB00214)|Tretinoin(DB00755)|Trimethoprim(DB00440)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zopiclone(DB01198) GGAATTGCCTCTTCCAGAAAA 0.443000 8 179 0 0 1 0 0 SLC30A8 169026 broad.mit.edu 37 8 118184909 118184909 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:118184909C>T ENST00000427715.2 + 11 1386 c.952C>T c.(952-954)Ccc>Tcc p.P318S SLC30A8_ENST00000456015.2_Missense_Mutation_p.P367S|SLC30A8_ENST00000519688.1_Missense_Mutation_p.P318S|SLC30A8_ENST00000521243.1_Missense_Mutation_p.P318S NM_001172813.1|NM_001172815.1 NP_001166284.1|NP_001166286.1 Q8IWU4 ZNT8_HUMAN solute carrier family 30 (zinc transporter), member 8 367 insulin secretion|positive regulation of insulin secretion|regulation of sequestering of zinc ion|regulation of vesicle-mediated transport|response to glucose stimulus|sequestering of zinc ion integral to membrane|plasma membrane|secretory granule membrane|transport vesicle membrane protein homodimerization activity|zinc ion transmembrane transporter activity breast(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(18)|ovary(2)|pancreas(2)|skin(5) 41 all_cancers(13;2.11e-22)|Lung NSC(37;6.08e-05)|Ovarian(258;0.0173) STAD - Stomach adenocarcinoma(47;0.203) CTGTGAAGACCCCTGTGACTA 0.463000 40 99 0 0 1 0 0 RNF133 168433 broad.mit.edu 37 7 122338584 122338584 + Missense_Mutation SNP T T C TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:122338584T>C ENST00000340112.2 - 1 626 c.389A>G c.(388-390)tAt>tGt p.Y130C CADPS2_ENST00000449022.2_Intron|CADPS2_ENST00000412584.2_Intron|CADPS2_ENST00000313070.7_Intron|CADPS2_ENST00000334010.7_Intron NM_139175.1 NP_631914.1 Q8WVZ7 RN133_HUMAN ring finger protein 133 130 PA. endoplasmic reticulum membrane|integral to membrane ligase activity|zinc ion binding NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|urinary_tract(1) 21 TGGAACGTTATAGATGATCAC 0.448000 78 183 0 0 1 0 0 FER1L6 654463 broad.mit.edu 37 8 125132016 125132016 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:125132016C>T ENST00000522917.1 + 41 5765 c.5559C>T c.(5557-5559)atC>atT p.I1853I FER1L6_ENST00000399018.1_Silent_p.I1853I|FER1L6-AS2_ENST00000520031.1_RNA NM_001039112.2 NP_001034201.2 Q2WGJ9 FR1L6_HUMAN fer-1-like 6 (C. elegans) 1853 integral to membrane NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1) 118 Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741) STAD - Stomach adenocarcinoma(47;0.00186) GCCGAAGGATCGTTGTGGGCT 0.458000 79 151 0 0 1 0 0 GRM7 2917 broad.mit.edu 37 3 7348184 7348184 + Splice_Site SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:7348184G>A ENST00000486284.1 + 4 1152 c.e4-1 GRM7_ENST00000389336.4_Splice_Site|GRM7_ENST00000402647.2_Splice_Site|GRM7_ENST00000403881.1_Splice_Site|GRM7_ENST00000357716.4_Splice_Site NM_181874.2 NP_870989.1 Q14831 GRM7_HUMAN glutamate receptor, metabotropic 7 negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 76 L-Glutamic Acid(DB00142) TCTTTCCACAGGCAGATCCTT 0.433000 33 108 0 0 1 0 0 GUCY1B2 2974 broad.mit.edu 37 13 51584228 51584228 + RNA SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr13:51584228G>A ENST00000493639.2 - 0 1864 NR_003923.2 GTGGGACTGAGGTGCACTTTG 0.493000 4 13 0 0 1 0 0 LRRC2 79442 broad.mit.edu 37 3 46586728 46586728 + Nonsense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:46586728C>T ENST00000395905.3 - 3 533 c.141G>A c.(139-141)tgG>tgA p.W47* LRRC2_ENST00000296144.3_Nonsense_Mutation_p.W47*|LRRC2_ENST00000496388.1_5'UTR NM_024512.4 NP_078788.2 Q9BYS8 LRRC2_HUMAN leucine rich repeat containing 2 47 breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1) 17 Ovarian(412;0.0563) OV - Ovarian serous cystadenocarcinoma(275;6.37e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00133)|KIRC - Kidney renal clear cell carcinoma(197;0.0214)|Kidney(197;0.0254) CCACAAAGTTCCACTCCTCCT 0.537000 22 41 0 0 1 0 0 TONSL 4796 broad.mit.edu 37 8 145662280 145662280 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:145662280G>A ENST00000409379.3 - 15 1779 c.1750C>T c.(1750-1752)Cac>Tac p.H584Y AC084125.4_ENST00000544423.1_RNA NM_013432.4 NP_038460.4 Q96HA7 TONSL_HUMAN tonsoku-like, DNA repair protein 584 cytoplasmic sequestering of transcription factor|double-strand break repair via homologous recombination|replication fork processing cytoplasm|nuclear replication fork histone binding|transcription corepressor activity biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|lung(14)|ovary(3)|prostate(1)|skin(1) 26 GCGGCCCCGTGGTCCAGCAGG 0.652000 11 141 0 0 1 0 0 HELZ2 85441 broad.mit.edu 37 20 62192028 62192028 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr20:62192028G>A ENST00000467148.1 - 16 7373 c.7304C>T c.(7303-7305)cCc>cTc p.P2435L HELZ2_ENST00000427522.2_Missense_Mutation_p.P1866L NM_001037335.2 NP_001032412.2 helicase with zinc finger 2, transcriptional coactivator CGCCACAGAGGGGAAGGCACA 0.672000 30 99 0 0 1 0 0 RBPJL 11317 broad.mit.edu 37 20 43944827 43944827 + Splice_Site SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr20:43944827G>A ENST00000343694.3 + 10 1093 c.1020_splice c.e10-1 p.A341_splice RBPJL_ENST00000372743.1_Splice_Site_p.A341_splice|RBPJL_ENST00000372741.3_Splice_Site_p.A341_splice|RBPJL_ENST00000464504.1_Intron NM_014276.2 NP_055091.2 Q9UBG7 RBPJL_HUMAN recombination signal binding protein for immunoglobulin kappa J region-like 341 signal transduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 Myeloproliferative disorder(115;0.0122) CTCCTCCCAGGCCTCTCCCTG 0.617000 7 125 0 0 1 0 0 MECP2 4204 broad.mit.edu 37 X 153296129 153296129 + Missense_Mutation SNP G G A rs61752378 TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chrX:153296129G>A ENST00000303391.6 - 4 1399 c.1150C>T c.(1150-1152)Cca>Tca p.P384S MECP2_ENST00000453960.2_Missense_Mutation_p.P396S NM_004992.3 NP_004983.1 P51608 MECP2_HUMAN methyl CpG binding protein 2 (Rett syndrome) 384 Pro-rich. negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent heterochromatin|nucleus double-stranded methylated DNA binding|protein domain specific binding|protein N-terminus binding|transcription corepressor activity breast(2)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(8)|prostate(2)|urinary_tract(1) 23 all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) GGCAGGGGTGGGAGCAGTGGC 0.682000 8 43 0 0 1 0 0 TRIM25 7706 broad.mit.edu 37 17 54969458 54969458 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:54969458G>A ENST00000316881.4 - 9 1545 c.1496C>T c.(1495-1497)tCt>tTt p.S499F TRIM25_ENST00000537230.1_Missense_Mutation_p.S499F NM_005082.4 NP_005073.2 Q14258 TRI25_HUMAN tripartite motif containing 25 499 B30.2/SPRY. innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|response to virus cell junction|cytosol|nucleus sequence-specific DNA binding transcription factor activity|ubiquitin-protein ligase activity|zinc ion binding breast(2)|endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 Breast(9;6.15e-08) CAGCACCTGAGAGCAGTATGT 0.557000 6 240 0 0 1 0 0 ITGA8 8516 broad.mit.edu 37 10 15634299 15634299 + Missense_Mutation SNP G G A rs34933317 TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:15634299G>A ENST00000378076.3 - 22 2569 c.2216C>T c.(2215-2217)tCc>tTc p.S739F NM_003638.1 NP_003629.1 P53708 ITA8_HUMAN integrin, alpha 8 739 cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development integrin complex receptor activity NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 96 GAGGCCCAGGGAATACTAAAA 0.378000 14 34 0 0 1 0 0 HEPH 9843 broad.mit.edu 37 X 65486291 65486291 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chrX:65486291C>T ENST00000519389.1 + 21 3595 c.3416C>T c.(3415-3417)cCc>cTc p.P1139L HEPH_ENST00000441993.2_Missense_Mutation_p.P1087L|HEPH_ENST00000374727.3_Missense_Mutation_p.P1088L|HEPH_ENST00000336279.5_Missense_Mutation_p.P818L|HEPH_ENST00000343002.2_Missense_Mutation_p.P1085L|HEPH_ENST00000419594.1_Missense_Mutation_p.P896L Q9BQS7 HEPH_HUMAN hephaestin 1085 cellular iron ion homeostasis|copper ion transport|transmembrane transport integral to membrane|plasma membrane copper ion binding|oxidoreductase activity endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 89 GCAGTGCCCCCCAGAGACATT 0.443000 3 33 0 0 1 0 0 PRKCG 5582 broad.mit.edu 37 19 54395855 54395855 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:54395855C>T ENST00000263431.3 + 7 1061 c.779C>T c.(778-780)tCc>tTc p.S260F PRKCG_ENST00000542049.1_Missense_Mutation_p.S147F|PRKCG_ENST00000540413.1_Missense_Mutation_p.S260F|PRKCG_ENST00000536044.1_Missense_Mutation_p.S260F NM_002739.3 NP_002730.1 P05129 KPCG_HUMAN protein kinase C, gamma 260 C2. activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission cytosol ATP binding|protein kinase C activity|zinc ion binding large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1) 10 all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218) GBM - Glioblastoma multiforme(134;0.0521) GGGGCCATGTCCTTTGGCGTC 0.642000 14 38 0 0 1 0 0 MYH4 4622 broad.mit.edu 37 17 10355407 10355407 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:10355407G>A ENST00000255381.2 - 27 3699 c.3589C>T c.(3589-3591)Cgg>Tgg p.R1197W CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA NM_017533.2 NP_060003.2 Q9Y623 MYH4_HUMAN myosin, heavy chain 4, skeletal muscle 1197 muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 149 TGCTTCTTCCGAAGAGCAGCT 0.552000 51 99 0 0 1 0 0 GPR85 54329 broad.mit.edu 37 7 112724345 112724345 + Missense_Mutation SNP C C G TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:112724345C>G ENST00000501255.2 - 3 1055 c.432G>C c.(430-432)atG>atC p.M144I GPR85_ENST00000297146.2_Missense_Mutation_p.M144I|GPR85_ENST00000449591.1_Missense_Mutation_p.M144I|GPR85_ENST00000424100.1_Missense_Mutation_p.M144I NM_001146265.1|NM_001146266.1|NM_018970.6 NP_001139737.1|NP_001139738.1|NP_061843.3 P60893 GPR85_HUMAN G protein-coupled receptor 85 144 integral to membrane|plasma membrane G-protein coupled receptor activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(1) 17 GAGTCCACACCATACAGATCA 0.498000 18 153 0 0 1 0 0 STK10 6793 broad.mit.edu 37 5 171488198 171488198 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:171488198C>T ENST00000176763.5 - 14 2500 c.2157G>A c.(2155-2157)cgG>cgA p.R719R NM_005990.3 NP_005981.3 O94804 STK10_HUMAN serine/threonine kinase 10 719 ATP binding|protein serine/threonine kinase activity breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(6)|pancreas(1)|prostate(1)|testis(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 47 Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094) Medulloblastoma(196;0.00868)|all_neural(177;0.026) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) CACAGATCTCCCGCCTGTTGT 0.617000 18 305 0 0 1 0 0 RALGAPA1 253959 broad.mit.edu 37 14 36244917 36244917 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr14:36244917G>A ENST00000258840.6 - 2 531 c.141C>T c.(139-141)ttC>ttT p.F47F RALGAPA1_ENST00000389698.3_Silent_p.F47F|RALGAPA1_ENST00000382366.3_Silent_p.F47F|RALGAPA1_ENST00000307138.6_Silent_p.F47F Q6GYQ0 RGPA1_HUMAN Ral GTPase activating protein, alpha subunit 1 (catalytic) 47 activation of Ral GTPase activity cytosol|mitochondrion|nucleus protein heterodimerization activity|Ral GTPase activator activity breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 67 AATGTTGGTCGAAAAACTGTT 0.264000 19 48 0 0 1 0 0 HERC1 8925 broad.mit.edu 37 15 63981877 63981877 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr15:63981877G>A ENST00000443617.2 - 33 6046 c.5959C>T c.(5959-5961)Ctt>Ttt p.L1987F RP11-317G6.1_ENST00000559303.2_RNA NM_003922.3 NP_003913.3 Q15751 HERC1_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 1987 protein modification process|transport cytosol|Golgi apparatus|membrane acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 132 TCAGAGAGAAGGGAAAATAAG 0.313000 12 9 0 0 1 0 0 AFAP1L1 134265 broad.mit.edu 37 5 148700009 148700009 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:148700009C>T ENST00000296721.4 + 14 1779 c.1681C>T c.(1681-1683)Cct>Tct p.P561S AFAP1L1_ENST00000515000.1_Missense_Mutation_p.P561S NM_001146337.1|NM_152406.2 NP_001139809.1|NP_689619.1 Q8TED9 AF1L1_HUMAN actin filament associated protein 1-like 1 561 protein binding breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(10)|ovary(1)|pancreas(1)|skin(2) 26 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGATGATGTTCCTTATGAAAA 0.463000 12 78 0 0 1 0 0 NPAS3 64067 broad.mit.edu 37 14 33684611 33684611 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr14:33684611C>T ENST00000346562.2 + 2 348 c.274C>T c.(274-276)Cca>Tca p.P92S NPAS3_ENST00000548645.1_Missense_Mutation_p.P92S|NPAS3_ENST00000357798.5_Missense_Mutation_p.P92S|NPAS3_ENST00000547068.1_Missense_Mutation_p.P20S|NPAS3_ENST00000551492.1_Missense_Mutation_p.P129S|NPAS3_ENST00000341321.4_Missense_Mutation_p.P122S|NPAS3_ENST00000356141.4_Missense_Mutation_p.P122S|NPAS3_ENST00000551008.1_Missense_Mutation_p.P20S NM_001164749.1|NM_001165893.1|NM_022123.2|NM_173159.2 NP_001158221.1|NP_001159365.1|NP_071406.1|NP_775182.1 Q8IXF0 NPAS3_HUMAN neuronal PAS domain protein 3 122 Helix-loop-helix motif. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|signal transducer activity breast(4)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 40 Breast(36;0.0102)|Hepatocellular(127;0.133) LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968) GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115) GGAAGGCCCTCCACCTAACAC 0.443000 27 83 0 0 1 0 0 PCDHB14 56122 broad.mit.edu 37 5 140604253 140604253 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:140604253C>T ENST00000239449.4 + 1 1176 c.1176C>T c.(1174-1176)ttC>ttT p.F392F PCDHB14_ENST00000515856.2_Silent_p.F239F NM_018934.2 NP_061757.1 Q9Y5E9 PCDBE_HUMAN 392 Cadherin 4. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1) 49 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TCCCTTTTTTCCTGAAACCGA 0.443000 50 131 0 0 1 0 0 DNAH5 1767 broad.mit.edu 37 5 13793748 13793748 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:13793748G>A ENST00000265104.4 - 49 8204 c.8100C>T c.(8098-8100)atC>atT p.I2700I NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 2700 AAA 3 (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) CCAAAAACTGGATGTCCACGA 0.463000 Kartagener syndrome 66 60 0 0 1 0 0 ZNF773 374928 broad.mit.edu 37 19 58018662 58018662 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:58018662C>T ENST00000282292.4 + 4 1339 c.1199C>T c.(1198-1200)tCc>tTc p.S400F ZNF773_ENST00000598770.1_Missense_Mutation_p.S399F|ZNF773_ENST00000599847.1_Intron|ZNF773_ENST00000593916.1_Intron NM_198542.1 NP_940944.1 Q6PK81 ZN773_HUMAN zinc finger protein 773 400 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 22 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0254) AGTGAGAATTCCAGCCTTGTT 0.413000 42 131 0 0 1 0 0 PAX3 5077 broad.mit.edu 37 2 223161726 223161726 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:223161726G>A ENST00000350526.4 - 2 428 c.292C>T c.(292-294)Cct>Tct p.P98S PAX3_ENST00000392070.2_Missense_Mutation_p.P98S|PAX3_ENST00000344493.4_Missense_Mutation_p.P98S|PAX3_ENST00000409828.3_Missense_Mutation_p.P98S|PAX3_ENST00000409551.3_Missense_Mutation_p.P98S|PAX3_ENST00000392069.2_Missense_Mutation_p.P98S|PAX3_ENST00000258387.5_Missense_Mutation_p.P98S|PAX3_ENST00000336840.6_Missense_Mutation_p.P98S NM_181457.3 NP_852122.1 P23760 PAX3_HUMAN paired box 3 98 Paired. apoptosis|organ morphogenesis|positive regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription from RNA polymerase II promoter nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity PAX3/NCOA2(4)|PAX3/NCOA1(8)|PAX3/FOXO1(749) NS(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(13)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 38 Renal(207;0.0183) Epithelial(121;4.13e-10)|all cancers(144;1.85e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) ATGGCACCAGGACGTATGGAG 0.692000 T """FOXO1A, NCOA1""" alveolar rhabdomyosarcoma Waardenburg syndrome; craniofacial-deafness-hand syndrome 14 34 0 0 1 0 0 KRT25 147183 broad.mit.edu 37 17 38911426 38911426 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:38911426C>T ENST00000312150.4 - 1 158 c.98G>A c.(97-99)gGa>gAa p.G33E NM_181534.3 NP_853512.1 Q7Z3Z0 K1C25_HUMAN keratin 25 33 Gly-rich.|Head. cytoplasm|intermediate filament structural molecule activity endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(4) 16 Breast(137;0.00526) ACAAGAATTTCCAGTACCAAA 0.547000 30 62 0 0 1 0 0 FAM45A 404636 broad.mit.edu 37 10 120877128 120877128 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:120877128C>T ENST00000361432.2 + 4 456 c.430C>T c.(430-432)Ctt>Ttt p.L144F FAM45A_ENST00000544016.1_Intron|FAM45A_ENST00000535029.1_Missense_Mutation_p.L144F|FAM45A_ENST00000489988.1_3'UTR NM_207009.2 NP_996892.1 Q8TCE6 FA45A_HUMAN family with sequence similarity 45, member A 144 breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(2)|urinary_tract(1) 14 Lung NSC(174;0.094)|all_lung(145;0.123) all cancers(201;0.0293) CGGCTCTTTCCTTAGTAAGGA 0.478000 55 104 0 0 1 0 0 NUP210L 91181 broad.mit.edu 37 1 153982545 153982545 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:153982545C>T ENST00000368559.3 - 35 4904 c.4833G>A c.(4831-4833)gcG>gcA p.A1611A NUP210L_ENST00000368553.1_Silent_p.A544A|NUP210L_ENST00000271854.3_Silent_p.A1611A NM_207308.2 NP_997191.2 Q5VU65 P210L_HUMAN nucleoporin 210kDa-like 1611 integral to membrane NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2) 80 all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128) LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198) GCATGAGGGTCGCTGGAAGAA 0.413000 77 89 0 0 1 0 0 WSCD1 23302 broad.mit.edu 37 17 5998510 5998510 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:5998510C>T ENST00000574946.1 + 5 1206 c.816C>T c.(814-816)acC>acT p.T272T WSCD1_ENST00000574232.1_Silent_p.T272T|WSCD1_ENST00000573634.1_Silent_p.T156T|WSCD1_ENST00000317744.5_Silent_p.T272T|WSCD1_ENST00000539421.1_Silent_p.T272T Q658N2 WSCD1_HUMAN WSC domain containing 1 272 WSC 2. integral to membrane sulfotransferase activity breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(1) 35 CCAATGTGACCGTGGGGACTT 0.562000 39 102 0 0 1 0 0 THAP6 152815 broad.mit.edu 37 4 76452420 76452420 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:76452420C>T ENST00000311638.3 + 5 733 c.665C>T c.(664-666)tCa>tTa p.S222L THAP6_ENST00000507556.1_Intron|THAP6_ENST00000380837.3_Missense_Mutation_p.S180L|THAP6_ENST00000514480.1_Missense_Mutation_p.S222L|THAP6_ENST00000507885.1_Intron|THAP6_ENST00000504190.1_Intron|THAP6_ENST00000502620.1_Intron|THAP6_ENST00000507557.1_Intron NM_144721.4 NP_653322.1 Q8TBB0 THAP6_HUMAN THAP domain containing 6 222 microtubule cytoskeleton DNA binding|metal ion binding lung(5) 5 Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122) GACTATATTTCATGAAATAAT 0.323000 33 95 0 0 1 0 0 NUDCD3 23386 broad.mit.edu 37 7 44425655 44425655 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:44425655G>A ENST00000355451.6 - 6 1320 c.1041C>T c.(1039-1041)ttC>ttT p.F347F NUDCD3_ENST00000460110.1_5'UTR NM_015332.3 NP_056147.2 Q8IVD9 NUDC3_HUMAN NudC domain containing 3 347 endometrium(2)|large_intestine(1)|lung(3)|skin(1) 7 TGGCAGGGTCGAATCGCTGGC 0.532000 11 105 0 0 1 0 0 PRG2 5553 broad.mit.edu 37 11 57155272 57155272 + Nonsense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:57155272G>A ENST00000311862.5 - 5 638 c.565C>T c.(565-567)Cag>Tag p.Q189* PRG2_ENST00000525955.1_Nonsense_Mutation_p.Q189*|PRG2_ENST00000533605.1_Nonsense_Mutation_p.Q178* NM_001243245.1|NM_002728.4 NP_001230174.1|NP_002719.3 proteoglycan 2, bone marrow (natural killer cell activator, eosinophil granule major basic protein) central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4) 10 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GACCAGGGCTGGTGAGCAGCC 0.632000 8 11 0 0 1 0 0 OR2V2 285659 broad.mit.edu 37 5 180582805 180582805 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:180582805C>T ENST00000328275.1 + 1 863 c.863C>T c.(862-864)cCc>cTc p.P288L NM_206880.1 NP_996763.1 Q96R30 OR2V2_HUMAN olfactory receptor, family 2, subfamily V, member 2 288 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 all_cancers(89;8.26e-06)|all_epithelial(37;1.02e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684) all_cancers(40;0.0103)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.0652)|all_lung(500;0.149) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) ATGCTCAACCCCCTCATTTAC 0.602000 26 64 0 0 1 0 0 SCN9A 6335 broad.mit.edu 37 2 167060631 167060631 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:167060631C>T ENST00000303354.6 - 26 4951 c.4611G>A c.(4609-4611)aaG>aaA p.K1537K AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000409672.1_Silent_p.K1525K|SCN9A_ENST00000409435.1_Silent_p.K1536K|SCN9A_ENST00000375387.4_Silent_p.K1537K Q15858 SCN9A_HUMAN sodium channel, voltage-gated, type IX, alpha subunit 1536 voltage-gated sodium channel complex voltage-gated sodium channel activity NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 108 Lamotrigine(DB00555)|Lidocaine(DB00281) TTTGACCCTCCTTTTCTACCA 0.348000 22 56 0 0 1 0 0 MKKS 8195 broad.mit.edu 37 20 10393679 10393679 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr20:10393679G>A ENST00000347364.2 - 3 1246 c.484C>T c.(484-486)Cct>Tct p.P162S NM_170784.2 NP_740754.1 Q9NPJ1 MKKS_HUMAN McKusick-Kaufman syndrome 162 brain morphogenesis|cerebral cortex development|convergent extension involved in gastrulation|detection of mechanical stimulus involved in sensory perception of sound|fat cell differentiation|flagellum assembly|gonad development|heart looping|hippocampus development|intracellular transport|melanosome transport|photoreceptor cell maintenance|pigment granule aggregation in cell center|protein folding|regulation of cilium beat frequency involved in ciliary motility|sensory perception of smell|social behavior|spermatid development|striatum development cytosol|microtubule organizing center|motile cilium ATP binding|unfolded protein binding kidney(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)|stomach(2) 16 ATACAGGCAGGTTTACTTGTT 0.433000 5 105 0 0 1 0 0 PCDHGA6 56109 broad.mit.edu 37 5 140754129 140754129 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:140754129C>T ENST00000517434.1 + 1 479 c.479C>T c.(478-480)cCt>cTt p.P160L PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA3_ENST00000253812.6_Intron NM_018919.2|NM_032086.1 NP_061742.1|NP_114475.1 breast(1)|large_intestine(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GTCTATGACCCTGATGTGGGA 0.473000 29 41 0 0 1 0 0 TMPRSS2 7113 broad.mit.edu 37 21 42861521 42861521 + Splice_Site SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr21:42861521C>T ENST00000398585.3 - 4 410 c.e4-1 TMPRSS2_ENST00000458356.1_Splice_Site|TMPRSS2_ENST00000497881.1_Intron|TMPRSS2_ENST00000332149.5_Splice_Site NM_001135099.1 NP_001128571.1 O15393 TMPS2_HUMAN transmembrane protease, serine 2 proteolysis cytoplasm|extracellular region|integral to plasma membrane scavenger receptor activity|serine-type endopeptidase activity TMPRSS2/ETV1(34)|TMPRSS2/ETV5_ENST00000306376(5)|TMPRSS2/ERG(3582)|TMPRSS2/ETV4(13) central_nervous_system(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 4 Prostate(19;4.48e-07)|all_epithelial(19;0.031) TTCTTAGTCTCTGGAAGAAGG 0.468000 T """ERG, ETV1, ETV4, ETV5""" prostate 13 36 0 0 1 0 0 SPPL2C 162540 broad.mit.edu 37 17 43923796 43923796 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:43923796C>T ENST00000329196.5 + 1 1541 c.1524C>T c.(1522-1524)acC>acT p.T508T MAPT-AS1_ENST00000579599.1_RNA|MAPT-AS1_ENST00000579244.1_RNA NM_175882.2 NP_787078.2 Q8IUH8 IMP5_HUMAN signal peptide peptidase like 2C 508 integral to membrane aspartic-type endopeptidase activity TGTCCAGCACCCTGCTCACCA 0.627000 39 144 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179594114 179594114 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:179594114G>A ENST00000589042.1 - 64 18993 c.18769C>T c.(18769-18771)Cat>Tat p.H6257Y TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.H5940Y|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.H5013Y|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 5940 Ig-like 44. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TTGGTTATATGGAGGTTAAAC 0.468000 72 93 0 0 1 0 0 CD1A 909 broad.mit.edu 37 1 158225110 158225110 + Missense_Mutation SNP C C G TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:158225110C>G ENST00000289429.5 + 2 828 c.295C>G c.(295-297)Cgt>Ggt p.R99G NM_001763.2 NP_001754.2 P06126 CD1A_HUMAN CD1a molecule 99 antigen processing and presentation|immune response endosome membrane|integral to plasma membrane|MHC class I protein complex NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1) 32 all_hematologic(112;0.0378) Antithymocyte globulin(DB00098) TGAGGGAATTCGTAGATACGC 0.468000 16 54 0 0 1 0 0 RGS22 26166 broad.mit.edu 37 8 101074874 101074874 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:101074874C>T ENST00000360863.6 - 9 1653 c.1459G>A c.(1459-1461)Gaa>Aaa p.E487K RGS22_ENST00000523437.1_Missense_Mutation_p.E475K|RGS22_ENST00000523287.1_Missense_Mutation_p.E306K NM_015668.3 NP_056483.3 Q8NE09 RGS22_HUMAN regulator of G-protein signaling 22 487 negative regulation of signal transduction cytoplasm|plasma membrane GTPase activator activity|signal transducer activity RGS22/SYCP1(2) breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 68 Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169) AAATGCTCTTCATTCCACTGT 0.323000 19 37 0 0 1 0 0 PRDM5 11107 broad.mit.edu 37 4 121706234 121706234 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:121706234C>T ENST00000264808.3 - 11 1441 c.1201G>A c.(1201-1203)Gag>Aag p.E401K PRDM5_ENST00000515109.1_Missense_Mutation_p.E370K|PRDM5_ENST00000428209.2_Missense_Mutation_p.E370K NM_018699.2 NP_061169.2 Q9NQX1 PRDM5_HUMAN PR domain containing 5 401 histone deacetylation|histone H3-K9 methylation|mitotic cell cycle|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus repressing transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(17)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 AACGGTCTCTCCTCAGAGTGG 0.443000 25 52 0 0 1 0 0 ZNF174 7727 broad.mit.edu 37 16 3458670 3458670 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr16:3458670C>T ENST00000268655.4 + 3 1560 c.975C>T c.(973-975)ccC>ccT p.P325P LA16c-306E5.2_ENST00000575785.1_RNA|ZNF174_ENST00000571936.1_Silent_p.P325P NM_003450.2 NP_003441.1 Q15697 ZN174_HUMAN zinc finger protein 174 325 negative regulation of transcription from RNA polymerase II promoter|viral reproduction actin cytoskeleton|cytoplasm|nucleus protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding endometrium(2)|large_intestine(3)|lung(3)|prostate(2)|urinary_tract(2) 12 CAAAGAAACCCTACAAATGTG 0.502000 32 50 0 0 1 0 0 FMOD 2331 broad.mit.edu 37 1 203317158 203317158 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:203317158C>T ENST00000354955.4 - 2 704 c.241G>A c.(241-243)Gac>Aac p.D81N FMOD_ENST00000464898.1_Intron NM_002023.4 NP_002014.2 Q06828 FMOD_HUMAN fibromodulin 81 Cys-rich.|LRRNT. transforming growth factor beta receptor complex assembly extracellular space|proteinaceous extracellular matrix breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2) 17 BRCA - Breast invasive adenocarcinoma(75;0.171) GGTGGGCAGTCGCACTCCTGG 0.592000 25 31 0 0 1 0 0 ATP6V1B1 525 broad.mit.edu 37 2 71170819 71170819 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:71170819C>T ENST00000234396.4 + 2 223 c.150C>T c.(148-150)ccC>ccT p.P50P ATP6V1B1_ENST00000412314.1_Silent_p.P50P|AC007040.11_ENST00000606025.1_Intron|AC007040.7_ENST00000422761.1_RNA|AC007040.7_ENST00000447639.1_RNA NM_001692.3 NP_001683.2 P15313 VATB1_HUMAN ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B1 50 ATP hydrolysis coupled proton transport|calcium ion homeostasis|cellular iron ion homeostasis|excretion|inner ear morphogenesis|insulin receptor signaling pathway|ossification|pH reduction|sensory perception of sound|transferrin transport apical plasma membrane|basolateral plasma membrane|cytosol|endomembrane system|lateral plasma membrane|microvillus|proton-transporting V-type ATPase, V1 domain|vacuolar proton-transporting V-type ATPase complex ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|prostate(1)|skin(1) 19 TGAACGGGCCCCTGGTGGTGC 0.632000 26 63 0 0 1 0 0 B3GALNT2 148789 broad.mit.edu 37 1 235652501 235652501 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:235652501G>A ENST00000366600.3 - 3 561 c.333C>T c.(331-333)tcC>tcT p.S111S B3GALNT2_ENST00000478199.1_Intron|B3GALNT2_ENST00000313984.3_Silent_p.S152S NM_152490.2 NP_689703.1 Q8NCR0 B3GL2_HUMAN beta-1,3-N-acetylgalactosaminyltransferase 2 111 protein glycosylation Golgi membrane|integral to membrane galactosyltransferase activity NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 18 Ovarian(103;0.0634)|Breast(184;0.23) all_cancers(173;0.0539)|Prostate(94;0.0353) OV - Ovarian serous cystadenocarcinoma(106;0.000117) GTAGTTTACAGGAATAAGGAT 0.408000 39 99 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179584992 179584992 + Splice_Site SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:179584992C>T ENST00000589042.1 - 81 23602 c.e81-1 TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Splice_Site|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Splice_Site|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) CGTGGAGGTTCTGATGAAAGA 0.428000 35 61 0 0 1 0 0 ABHD12 26090 broad.mit.edu 37 20 25287530 25287530 + Missense_Mutation SNP A A T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr20:25287530A>T ENST00000339157.5 - 10 1161 c.889T>A c.(889-891)Ttt>Att p.F297I ABHD12_ENST00000376542.3_Missense_Mutation_p.F297I|ABHD12_ENST00000481556.1_5'UTR NM_001042472.2 NP_001035937.1 Q8N2K0 ABD12_HUMAN abhydrolase domain containing 12 297 integral to membrane acylglycerol lipase activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(1)|skin(1)|urinary_tract(1) 12 AACCAGTCAAACCCAGGGAAG 0.383000 15 50 0 0 1 0 0 ZFHX4 79776 broad.mit.edu 37 8 77618237 77618237 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:77618237G>A ENST00000521891.2 + 2 2362 c.1914G>A c.(1912-1914)agG>agA p.R638R ZFHX4_ENST00000455469.2_Silent_p.R638R|ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000050961.6_Silent_p.R638R|ZFHX4_ENST00000518282.1_Silent_p.R638R NM_024721.4 NP_078997.4 Q86UP3 ZFHX4_HUMAN zinc finger homeobox 4 638 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6) 432 BRCA - Breast invasive adenocarcinoma(89;0.0895) TGCACTCGAGGAACTCATGCA 0.522000 HNSCC(33;0.089) 34 52 0 0 1 0 0 NACAP1 83955 broad.mit.edu 37 8 102381063 102381063 + RNA SNP T T G TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:102381063T>G ENST00000419462.1 + 0 475 NR_002182.1 CCGGCTTCCTTCTGCAACAGA 0.468000 7 13 0 0 1 0 0 IL1R1 3554 broad.mit.edu 37 2 102793024 102793024 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:102793024C>T ENST00000410023.1 + 12 1833 c.1515C>T c.(1513-1515)ttC>ttT p.F505F IL1R1_ENST00000409929.1_Silent_p.F474F|IL1R1_ENST00000233946.3_Silent_p.F505F|IL1R1_ENST00000424272.1_3'UTR|AC007271.3_ENST00000428188.1_RNA|IL1R1_ENST00000409589.1_Intron P14778 IL1R1_HUMAN interleukin 1 receptor, type I 505 TIR. innate immune response integral to plasma membrane interleukin-1, Type I, activating receptor activity|platelet-derived growth factor receptor binding breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|prostate(2)|skin(3) 19 Anakinra(DB00026) CGATTAAATTCATTAAGCAGA 0.438000 18 50 0 0 1 0 0 SSH1 54434 broad.mit.edu 37 12 109181999 109181999 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:109181999G>A ENST00000326495.5 - 15 3008 c.2915C>T c.(2914-2916)cCa>cTa p.P972L SSH1_ENST00000360239.3_Missense_Mutation_p.P660L NM_018984.3 NP_061857.3 Q8WYL5 SSH1_HUMAN slingshot protein phosphatase 1 972 Interaction with YWHAG. actin cytoskeleton organization|cell morphogenesis|cellular response to ATP|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of cellular protein metabolic process|regulation of lamellipodium assembly cleavage furrow|cytoplasm|cytoskeleton|lamellipodium|midbody|plasma membrane actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 GCGCTTCAGTGGGGAAGAGAC 0.632000 19 393 0 0 1 0 0 NBEA 26960 broad.mit.edu 37 13 35770426 35770426 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr13:35770426C>T ENST00000540320.1 + 31 5887 c.5353C>T c.(5353-5355)Cat>Tat p.H1785Y NBEA_ENST00000310336.4_Missense_Mutation_p.H1785Y|NBEA_ENST00000379939.2_Missense_Mutation_p.H1782Y|NBEA_ENST00000400445.3_Missense_Mutation_p.H1785Y Q8NFP9 NBEA_HUMAN neurobeachin 1785 cytosol|endomembrane system|plasma membrane|trans-Golgi network protein binding NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 108 Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207) all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199) TATGCAGTTTCATTCCTTTGA 0.373000 22 40 0 0 1 0 0 GNG7 2788 broad.mit.edu 37 19 2515077 2515077 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:2515077G>A ENST00000382159.3 - 5 347 c.150C>T c.(148-150)gtC>gtT p.V50V NM_052847.2 NP_443079.1 O60262 GBG7_HUMAN guanine nucleotide binding protein (G protein), gamma 7 50 cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission heterotrimeric G-protein complex signal transducer activity central_nervous_system(2)|large_intestine(1) 3 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CAGGGACTCCGACCAGCAGGG 0.502000 53 103 0 0 1 0 0 BIRC8 112401 broad.mit.edu 37 19 53793021 53793021 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:53793021G>A ENST00000426466.1 - 1 1854 c.607C>T c.(607-609)Cct>Tct p.P203S NM_033341.4 NP_203127.3 Q96P09 BIRC8_HUMAN baculoviral IAP repeat containing 8 203 apoptosis zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|urinary_tract(1) 19 GBM - Glioblastoma multiforme(134;0.00304) TGTCCACAAGGAATAAAAACA 0.438000 57 95 0 0 1 0 0 OR52A4P 390053 broad.mit.edu 37 11 5142709 5142709 + RNA SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:5142709G>A ENST00000498233.1 - 0 689 breast(1)|endometrium(2)|kidney(1)|lung(12)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1) 22 Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675) Epithelial(150;1.7e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2) GCACAGAATGGAATCCCAATC 0.418000 10 129 0 0 1 0 0 MROH7 374977 broad.mit.edu 37 1 55145689 55145689 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:55145689C>T ENST00000414150.2 + 13 2630 c.2352C>T c.(2350-2352)gcC>gcT p.A784A MROH7_ENST00000545244.1_Silent_p.A352A|MROH7_ENST00000421030.2_Silent_p.A784A|MROH7_ENST00000454855.2_Silent_p.A302A|MROH7_ENST00000339553.5_Silent_p.A784A|MROH7_ENST00000409996.1_Silent_p.A352A|MROH7_ENST00000395690.2_Silent_p.A784A maestro heat-like repeat family member 7 TTGTGGTGGCCCTGCTCATGT 0.642000 73 196 0 0 1 0 0 CASP2 835 broad.mit.edu 37 7 142989531 142989531 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:142989531C>T ENST00000310447.5 + 3 605 c.364C>T c.(364-366)Ctt>Ttt p.L122F CASP2_ENST00000392925.2_Missense_Mutation_p.L122F|CASP2_ENST00000493642.1_3'UTR NM_032982.3|NM_032983.3 NP_116764.2|NP_116765.2 P42575 CASP2_HUMAN caspase 2, apoptosis-related cysteine peptidase 122 apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|protein maturation by peptide bond cleavage cytosol cysteine-type endopeptidase activity|enzyme binding|protein binding|protein domain specific binding endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1) 21 Melanoma(164;0.059) GCTCACCACCCTTTCTGGGCT 0.498000 15 223 0 0 1 0 0 PROP1 5626 broad.mit.edu 37 5 177422891 177422891 + Missense_Mutation SNP C C G TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:177422891C>G ENST00000308304.2 - 1 352 c.44G>C c.(43-45)gGg>gCg p.G15A NM_006261.4 NP_006252.3 O75360 PROP1_HUMAN PROP paired-like homeobox 1 15 central nervous system development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(1)|large_intestine(2)|lung(9)|stomach(1) 13 all_cancers(89;0.00176)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GCCGACTCGCCCCTTCTTTGG 0.627000 39 72 0 0 1 0 0 PSG5 5673 broad.mit.edu 37 19 43674288 43674288 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:43674288G>A ENST00000599812.1 - 6 1341 c.1246C>T c.(1246-1248)Cct>Tct p.P416S PSG5_ENST00000407568.1_Missense_Mutation_p.P145S|PSG5_ENST00000366175.3_Missense_Mutation_p.P323S|PSG5_ENST00000407356.1_Missense_Mutation_p.P323S|PSG5_ENST00000342951.6_Missense_Mutation_p.P323S Q15238 PSG5_HUMAN pregnancy specific beta-1-glycoprotein 5 323 female pregnancy extracellular region breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(18)|prostate(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 Prostate(69;0.00899) ATTCCTGAAGGAGCTGTCATG 0.428000 67 93 0 0 1 0 0 NBAS 51594 broad.mit.edu 37 2 15679377 15679377 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:15679377G>A ENST00000281513.5 - 7 508 c.483C>T c.(481-483)ctC>ctT p.L161L NBAS_ENST00000441750.1_Silent_p.L161L NM_015909.3 NP_056993.2 A2RRP1 NBAS_HUMAN neuroblastoma amplified sequence 161 p.L161L(1) NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3) 112 CACTTCCCATGAGATCAAACA 0.428000 37 73 0 0 1 0 0 NOVA1 4857 broad.mit.edu 37 14 26917359 26917359 + Missense_Mutation SNP A A T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr14:26917359A>T ENST00000539517.2 - 5 1647 c.1330T>A c.(1330-1332)Tta>Ata p.L444I NOVA1_ENST00000267422.7_Missense_Mutation_p.L322I|NOVA1_ENST00000465357.2_Missense_Mutation_p.L420I NM_002515.2 NP_002506.2 P51513 NOVA1_HUMAN neuro-oncological ventral antigen 1 447 KH 3. locomotory behavior|RNA splicing|synaptic transmission nucleus RNA binding breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 40 GBM - Glioblastoma multiforme(265;0.0135) TATTCCACTAATGTTTTCCCT 0.433000 29 37 0 0 1 0 0 PDE1C 5137 broad.mit.edu 37 7 31904630 31904630 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:31904630G>A ENST00000396184.3 - 8 880 c.676C>T c.(676-678)Cct>Tct p.P226S PDE1C_ENST00000396193.1_Missense_Mutation_p.P286S|PDE1C_ENST00000321453.7_Missense_Mutation_p.P226S|PDE1C_ENST00000396191.1_Missense_Mutation_p.P226S|PDE1C_ENST00000396182.2_Missense_Mutation_p.P226S NM_005020.2 NP_005011.1 Q14123 PDE1C_HUMAN phosphodiesterase 1C, calmodulin-dependent 70kDa 226 Catalytic (By similarity). activation of phospholipase C activity|nerve growth factor receptor signaling pathway cytosol calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 81 GBM - Glioblastoma multiforme(11;0.216) TTATGGTAAGGATTTTTGTGC 0.448000 29 70 0 0 1 0 0 TSPAN5 10098 broad.mit.edu 37 4 99393696 99393696 + Missense_Mutation SNP C C T rs147530137 TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:99393696C>T ENST00000305798.3 - 8 1186 c.784G>A c.(784-786)Gaa>Aaa p.E262K TSPAN5_ENST00000505184.1_Missense_Mutation_p.E191K NM_005723.3 NP_005714.2 P62079 TSN5_HUMAN tetraspanin 5 262 integral to membrane kidney(2)|large_intestine(6)|lung(5)|upper_aerodigestive_tract(1) 14 OV - Ovarian serous cystadenocarcinoma(123;1.89e-07) CTGACAGCTTCGATATCGCTA 0.532000 37 74 0 0 1 0 0 CACNA1C 775 broad.mit.edu 37 12 2705140 2705140 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:2705140C>T ENST00000399655.1 + 20 3029 c.2764C>T c.(2764-2766)Ccg>Tcg p.P922S CACNA1C_ENST00000399644.1_Missense_Mutation_p.P922S|CACNA1C_ENST00000399638.1_Missense_Mutation_p.P922S|CACNA1C_ENST00000406454.3_Missense_Mutation_p.P922S|CACNA1C_ENST00000399621.1_Missense_Mutation_p.P922S|CACNA1C_ENST00000480911.1_Missense_Mutation_p.P922S|CACNA1C_ENST00000335762.5_Missense_Mutation_p.P947S|CACNA1C_ENST00000399601.1_Missense_Mutation_p.P922S|CACNA1C_ENST00000399641.1_Missense_Mutation_p.P922S|CACNA1C_ENST00000399591.1_Missense_Mutation_p.P922S|CACNA1C_ENST00000399603.1_Missense_Mutation_p.P922S|CACNA1C_ENST00000327702.7_Missense_Mutation_p.P922S|CACNA1C_ENST00000399629.1_Missense_Mutation_p.P922S|CACNA1C_ENST00000399637.1_Missense_Mutation_p.P922S|CACNA1C_ENST00000344100.3_Missense_Mutation_p.P922S|CACNA1C_ENST00000399597.1_Missense_Mutation_p.P922S|CACNA1C_ENST00000399617.1_Missense_Mutation_p.P922S|CACNA1C_ENST00000402845.3_Missense_Mutation_p.P922S|CACNA1C_ENST00000399649.1_Missense_Mutation_p.P922S|CACNA1C_ENST00000399595.1_Missense_Mutation_p.P922S|CACNA1C_ENST00000399634.1_Missense_Mutation_p.P922S|CACNA1C_ENST00000347598.4_Missense_Mutation_p.P922S|CACNA1C_ENST00000399606.1_Missense_Mutation_p.P922S NM_000719.6|NM_001129829.1|NM_001129834.1 NP_000710.5|NP_001123301.1|NP_001123306.1 Q13936 CAC1C_HUMAN calcium channel, voltage-dependent, L type, alpha 1C subunit 922 axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion cytoplasm|postsynaptic density|voltage-gated calcium channel complex calmodulin binding|voltage-gated calcium channel activity NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4) 132 OV - Ovarian serous cystadenocarcinoma(31;0.00256) LUAD - Lung adenocarcinoma(1;0.134) Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661) TGCTGAGGACCCGGTCCAGCA 0.567000 24 52 0 0 1 0 0 SCN10A 6336 broad.mit.edu 37 3 38798212 38798212 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:38798212C>T ENST00000449082.2 - 9 1242 c.1243G>A c.(1243-1245)Gag>Aag p.E415K NM_006514.2 NP_006505.2 Q9Y5Y9 SCNAA_HUMAN sodium channel, voltage-gated, type X, alpha subunit 415 sensory perception voltage-gated sodium channel complex NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 150 KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945) Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296) AACTTCTTCTCCTTTGCTTCA 0.507000 8 229 0 0 1 0 0 UMODL1 89766 broad.mit.edu 37 21 43536067 43536067 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr21:43536067G>A ENST00000400427.1 + 13 3011 c.2615G>A c.(2614-2616)cGa>cAa p.R872Q UMODL1_ENST00000408910.2_Missense_Mutation_p.R816Q|UMODL1_ENST00000408989.2_Missense_Mutation_p.R944Q|UMODL1_ENST00000400424.1_Missense_Mutation_p.R744Q NM_001199527.1 NP_001186456.1 Q5DID0 UROL1_HUMAN uromodulin-like 1 816 SEA 2. cytoplasm|extracellular region|integral to membrane|plasma membrane calcium ion binding|peptidase inhibitor activity breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 47 CAGGAGTATCGAGATTTCCTA 0.463000 26 53 0 0 1 0 0 POLR1B 84172 broad.mit.edu 37 2 113317046 113317046 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:113317046C>T ENST00000263331.5 + 9 2087 c.1507C>T c.(1507-1509)Cca>Tca p.P503S POLR1B_ENST00000541869.1_Missense_Mutation_p.P541S|POLR1B_ENST00000417433.2_Missense_Mutation_p.P447S|POLR1B_ENST00000409894.3_Intron|POLR1B_ENST00000537335.1_Missense_Mutation_p.P292S NM_019014.4 NP_061887.2 Q9H9Y6 RPA2_HUMAN polymerase (RNA) I polypeptide B, 128kDa 503 termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter nucleoplasm DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding breast(3)|endometrium(9)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 42 CGTGCATACCCCAGACGGGGA 0.562000 10 156 0 0 1 0 0 ADH1A 124 broad.mit.edu 37 4 100203628 100203628 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:100203628C>T ENST00000209668.2 - 6 816 c.703G>A c.(703-705)Gag>Aag p.E235K RP11-696N14.1_ENST00000500358.2_RNA NM_000667.3 NP_000658.1 P07327 ADH1A_HUMAN alcohol dehydrogenase 1A (class I), alpha polypeptide 235 ethanol oxidation|transcription, DNA-dependent|xenobiotic metabolic process cytosol alcohol dehydrogenase activity, zinc-dependent|protein binding|zinc ion binding endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1) 25 OV - Ovarian serous cystadenocarcinoma(123;9.56e-08) Fomepizole(DB01213)|NADH(DB00157) GCACCCAACTCTTTGGCCTTT 0.488000 167 423 0 0 1 0 0 BMPER 168667 broad.mit.edu 37 7 34192703 34192703 + Splice_Site SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:34192703G>A ENST00000297161.2 + 16 2250 c.e16-1 BMPER_ENST00000426693.1_Splice_Site NM_133468.4 NP_597725.1 Q8N8U9 BMPER_HUMAN BMP binding endothelial regulator blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation extracellular space breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 48 CTCTTTTTCAGCCACCCAGTG 0.498000 91 119 0 0 1 0 0 HS6ST1 9394 broad.mit.edu 37 2 129026036 129026036 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:129026036G>A ENST00000259241.6 - 2 949 c.936C>T c.(934-936)ttC>ttT p.F312F NM_004807.2 NP_004798.3 O60243 H6ST1_HUMAN heparan sulfate 6-O-sulfotransferase 1 312 heparan sulfate proteoglycan biosynthetic process, enzymatic modification integral to plasma membrane sulfotransferase activity endometrium(3)|liver(1)|lung(7)|pancreas(1)|prostate(2)|skin(1) 15 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.117) AGGGCCGGATGAACTTGAGGT 0.612000 25 28 0 0 1 0 0 BAIAP3 8938 broad.mit.edu 37 16 1391465 1391465 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr16:1391465C>T ENST00000324385.5 + 8 969 c.811C>T c.(811-813)Ccc>Tcc p.P271S BAIAP3_ENST00000568887.1_Missense_Mutation_p.P208S|BAIAP3_ENST00000562208.1_Missense_Mutation_p.P213S|BAIAP3_ENST00000397488.2_Missense_Mutation_p.P253S|BAIAP3_ENST00000421665.2_Missense_Mutation_p.P236S|BAIAP3_ENST00000426824.3_Missense_Mutation_p.P236S|BAIAP3_ENST00000397489.1_Missense_Mutation_p.P253S NM_003933.4 NP_003924.2 O94812 BAIP3_HUMAN BAI1-associated protein 3 271 C2 1. G-protein coupled receptor protein signaling pathway|neurotransmitter secretion protein C-terminus binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(25)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 42 Hepatocellular(780;0.0893) CACCCTGAACCCCGTCTGGAA 0.677000 26 141 0 0 1 0 0 TMEM132A 54972 broad.mit.edu 37 11 60704225 60704225 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:60704225C>T ENST00000005286.4 + 11 3074 c.2921C>T c.(2920-2922)cCa>cTa p.P974L TMEM132A_ENST00000453848.2_Missense_Mutation_p.P973L NM_017870.3|NM_178031.2 NP_060340.2|NP_821174.1 Q24JP5 T132A_HUMAN transmembrane protein 132A 973 Confers cellular localization similar to full-length form (By similarity). endoplasmic reticulum membrane|Golgi membrane|integral to membrane breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3) 32 CCAGCCCCTCCAGCCCAGTCA 0.662000 25 42 0 0 1 0 0 WDR72 256764 broad.mit.edu 37 15 53997348 53997348 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr15:53997348G>A ENST00000396328.1 - 11 1424 c.1185C>T c.(1183-1185)ttC>ttT p.F395F WDR72_ENST00000557913.1_Silent_p.F392F|WDR72_ENST00000559418.1_Silent_p.F405F|WDR72_ENST00000360509.5_Silent_p.F395F NM_001277176.1|NM_182758.2 NP_001264105.1|NP_877435.3 Q3MJ13 WDR72_HUMAN WD repeat domain 72 395 NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 71 all cancers(107;0.0511) TAAGCCCAGAGAAATAGTCAA 0.368000 35 88 0 0 1 0 0 ACP6 51205 broad.mit.edu 37 1 147120153 147120153 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:147120153C>T ENST00000369238.5 - 9 1485 c.1038G>A c.(1036-1038)ggG>ggA p.G346G ACP6_ENST00000460583.1_5'UTR NM_016361.3 NP_057445.4 Q9NPH0 PPA6_HUMAN acid phosphatase 6, lysophosphatidic 346 lipid metabolic process extracellular region|mitochondrion acid phosphatase activity|protein binding breast(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(4)|prostate(1) 16 all_hematologic(923;0.0276) GGTCAAAAATCCCCAGGGTCA 0.488000 30 132 0 0 1 0 0 PLSCR1 5359 broad.mit.edu 37 3 146239680 146239680 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:146239680G>A ENST00000342435.4 - 6 926 c.516C>T c.(514-516)gtC>gtT p.V172V PLSCR1_ENST00000448205.1_Intron|PLSCR1_ENST00000487389.1_Silent_p.V165V|PLSCR1_ENST00000448787.2_Silent_p.V91V NM_021105.2 NP_066928.1 O15162 PLS1_HUMAN phospholipid scramblase 1 172 phospholipid scrambling|platelet activation|response to virus integral to membrane|plasma membrane calcium ion binding|phospholipid scramblase activity|SH3 domain binding breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1) 15 CCAGAGTTATGACTTCTTGAC 0.433000 28 66 0 0 1 0 0 MYOM2 9172 broad.mit.edu 37 8 2044108 2044108 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:2044108G>A ENST00000262113.4 + 18 2288 c.2147G>A c.(2146-2148)gGg>gAg p.G716E MYOM2_ENST00000523438.1_Missense_Mutation_p.G141E NM_003970.2 NP_003961.2 P54296 MYOM2_HUMAN myomesin 2 716 Fibronectin type-III 4. muscle contraction myosin filament structural constituent of muscle autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3) 104 Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217) BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179) CATCCTTATGGGATTACGCTC 0.617000 95 145 0 0 1 0 0 GPRC6A 222545 broad.mit.edu 37 6 117113970 117113970 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:117113970G>A ENST00000310357.3 - 6 2137 c.2116C>T c.(2116-2118)Ctt>Ttt p.L706F GPRC6A_ENST00000368549.3_Missense_Mutation_p.L635F|GPRC6A_ENST00000530250.1_Missense_Mutation_p.L531F NM_148963.2 NP_683766.2 Q5T6X5 GPC6A_HUMAN G protein-coupled receptor, family C, group 6, member A 706 response to amino acid stimulus G-protein coupled receptor activity autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3) 65 all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234) GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07) AAGATAATAAGGATCGGTCTA 0.438000 20 56 0 0 1 0 0 KRTAP5-9 3846 broad.mit.edu 37 11 71259936 71259936 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:71259936C>T ENST00000528743.2 + 1 471 c.233C>T c.(232-234)tCc>tTc p.S78F NM_005553.3 NP_005544.4 P26371 KRA59_HUMAN keratin associated protein 5-9 78 8 X 4 AA repeats of C-C-X-P. epidermis development keratin filament kidney(1)|large_intestine(1)|lung(6)|prostate(3) 11 TGTGGCTGCTCCCAGTGCAGT 0.627000 122 225 0 0 1 0 0 TEX33 339669 broad.mit.edu 37 22 37398041 37398041 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr22:37398041G>A ENST00000405091.2 - 4 577 c.326C>T c.(325-327)tCg>tTg p.S109L TEX33_ENST00000402860.3_Missense_Mutation_p.S24L|TEX33_ENST00000381821.1_Missense_Mutation_p.S109L O43247 EAN57_HUMAN testis expressed 33 109 CCCCTCTCCCGAGGTGGCCCT 0.642000 16 24 0 0 1 0 0 TSPYL2 64061 broad.mit.edu 37 X 53113997 53113997 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chrX:53113997C>T ENST00000375442.4 + 3 1078 c.946C>T c.(946-948)Ccc>Tcc p.P316S NM_022117.3 NP_071400.1 Q9H2G4 TSYL2_HUMAN TSPY-like 2 316 cell cycle|chromatin modification|negative regulation of cell cycle|negative regulation of cell growth|negative regulation of DNA replication|nucleosome assembly|regulation of protein kinase activity|regulation of signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus protein binding|rDNA binding central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(1) 19 CCAGACTAACCCCTACTTCAC 0.522000 33 7 0 0 1 0 0 ANXA13 312 broad.mit.edu 37 8 124693509 124693509 + Missense_Mutation SNP G G A rs143112749 byFrequency TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:124693509G>A ENST00000262219.6 - 12 1112 c.1045C>T c.(1045-1047)Cgg>Tgg p.R349W ANXA13_ENST00000419625.1_Missense_Mutation_p.R308W NM_001003954.1 NP_001003954.1 P27216 ANX13_HUMAN annexin A13 308 cell differentiation plasma membrane calcium ion binding|calcium-dependent phospholipid binding breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2) 25 Lung NSC(37;2.06e-11)|Ovarian(258;0.00579)|all_neural(195;0.0741) STAD - Stomach adenocarcinoma(47;0.00288) AGCAGTTTCCGGAAGTCCCCG 0.498000 154 309 0 0 1 0 0 DROSHA 29102 broad.mit.edu 37 5 31421459 31421459 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:31421459G>A ENST00000511367.2 - 29 3689 c.3445C>T c.(3445-3447)Cta>Tta p.L1149L DROSHA_ENST00000442743.1_Silent_p.L1112L|DROSHA_ENST00000344624.3_Silent_p.L1149L|DROSHA_ENST00000513349.1_Silent_p.L1112L NM_013235.4 NP_037367.3 Q9NRR4 RNC_HUMAN drosha, ribonuclease type III 1149 Necessary for interaction with DGCR8 and pri-miRNA processing activity.|RNase III 2. gene silencing by RNA|ribosome biogenesis|RNA processing nucleolus|nucleoplasm double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(19)|lung(33)|ovary(2)|skin(1) 66 GAGTCACCTAGGAATTCCATT 0.353000 13 192 0 0 1 0 0 INPP5J 27124 broad.mit.edu 37 22 31522408 31522408 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr22:31522408G>A ENST00000331075.5 + 3 1367 c.1318G>A c.(1318-1320)Gat>Aat p.D440N INPP5J_ENST00000412277.2_Missense_Mutation_p.D373N|INPP5J_ENST00000400294.2_Missense_Mutation_p.D73N|INPP5J_ENST00000405300.1_Missense_Mutation_p.D73N|INPP5J_ENST00000404390.3_Missense_Mutation_p.D72N Q15735 PI5PA_HUMAN inositol polyphosphate-5-phosphatase J 440 Catalytic (Potential). cytoplasm|ruffle inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity|SH3 domain binding autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(1) 12 GCCCCCAGACGATGTCACATC 0.627000 10 249 0 0 1 0 0 MGAM 8972 broad.mit.edu 37 7 141764305 141764305 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:141764305G>A ENST00000475668.2 + 37 4521 c.4467G>A c.(4465-4467)caG>caA p.Q1489Q MGAM_ENST00000549489.2_Silent_p.Q1489Q O43451 MGA_HUMAN maltase-glucoamylase (alpha-glucosidase) 1489 Glucoamylase. polysaccharide digestion|starch catabolic process apical plasma membrane|integral to membrane carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2) 13 Melanoma(164;0.0272) Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878) GGTGGTCCCAGACCAGACCCA 0.542000 7 9 0 0 1 0 0 PIK3R4 30849 broad.mit.edu 37 3 130399853 130399853 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:130399853G>A ENST00000356763.3 - 18 4322 c.3765C>T c.(3763-3765)atC>atT p.I1255I PIK3R4_ENST00000512677.1_5'UTR NM_014602.2 NP_055417.1 Q99570 PI3R4_HUMAN phosphoinositide-3-kinase, regulatory subunit 4 1255 fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway cytosol ATP binding|protein binding|protein serine/threonine kinase activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(6)|large_intestine(16)|lung(28)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1) 77 CTGTTAGTAGGATAGGATTTC 0.363000 22 60 0 0 1 0 0 ELMOD1 55531 broad.mit.edu 37 11 107506474 107506474 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:107506474G>A ENST00000265840.7 + 6 668 c.403G>A c.(403-405)Gaa>Aaa p.E135K ELMOD1_ENST00000531234.1_Missense_Mutation_p.E129K|ELMOD1_ENST00000443271.2_Missense_Mutation_p.E135K NM_018712.3 NP_061182.3 Q8N336 ELMD1_HUMAN ELMO/CED-12 domain containing 1 135 ELMO. phagocytosis cytoskeleton GTPase activator activity endometrium(2)|large_intestine(5)|liver(2)|lung(7)|pancreas(2)|prostate(1) 19 Melanoma(852;0.000288)|Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00301)|all_epithelial(67;0.00304)|Breast(348;0.104) BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Epithelial(105;0.00027)|all cancers(92;0.00481) TCCCCAACATGAAGAAATGCT 0.463000 14 12 0 0 1 0 0 LAMB1 3912 broad.mit.edu 37 7 107601761 107601761 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:107601761G>A ENST00000393561.1 - 15 2255 c.2071C>T c.(2071-2073)Cct>Tct p.P691S LAMB1_ENST00000393560.1_Missense_Mutation_p.P667S|LAMB1_ENST00000222399.6_Missense_Mutation_p.P667S P07942 LAMB1_HUMAN laminin, beta 1 667 Laminin IV type B. axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm extracellular matrix structural constituent NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3) 82 Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) ACCGGCCGAGGAAGGACGACA 0.473000 29 94 0 0 1 0 0 IQCA1 79781 broad.mit.edu 37 2 237240205 237240205 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:237240205C>T ENST00000409907.3 - 18 2444 c.2170G>A c.(2170-2172)Gtc>Atc p.V724I IQCA1_ENST00000309507.5_Missense_Mutation_p.V721I|IQCA1_ENST00000431676.2_Missense_Mutation_p.V683I Q86XH1 IQCA1_HUMAN IQ motif containing with AAA domain 1 724 ATP binding cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(1) 26 CTGGTGAGGACTCCTCCATTG 0.488000 5 64 0 0 1 0 0 AASS 10157 broad.mit.edu 37 7 121733191 121733191 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:121733191G>A ENST00000393376.1 - 15 1772 c.1677C>T c.(1675-1677)caC>caT p.H559H AASS_ENST00000473553.1_5'UTR|AASS_ENST00000417368.2_Silent_p.H559H Q9UDR5 AASS_HUMAN aminoadipate-semialdehyde synthase 559 Saccharopine dehydrogenase. protein tetramerization mitochondrial matrix binding|saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(6)|large_intestine(12)|lung(27)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 54 L-Glutamic Acid(DB00142)|NADH(DB00157) CCACAAGAGGGTGCAATACAT 0.388000 63 55 0 0 1 0 0 TRPV5 56302 broad.mit.edu 37 7 142605761 142605761 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:142605761G>A ENST00000265310.1 - 15 2457 c.2109C>T c.(2107-2109)atC>atT p.I703I NM_019841.4 NP_062815.2 Q9NQA5 TRPV5_HUMAN transient receptor potential cation channel, subfamily V, member 5 703 Involved in Ca(2+)-dependent inactivation (By similarity). protein tetramerization apical plasma membrane|integral to plasma membrane calcium channel activity NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 67 Melanoma(164;0.059) TTTGACGAAGGATCTCCCAGC 0.552000 42 127 0 0 1 0 0 SLC44A1 23446 broad.mit.edu 37 9 108145493 108145493 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:108145493C>T ENST00000374720.3 + 14 1969 c.1722C>T c.(1720-1722)atC>atT p.I574I SLC44A1_ENST00000343170.7_Silent_p.I366I|SLC44A1_ENST00000374723.1_Silent_p.I574I|SLC44A1_ENST00000374724.1_Silent_p.I574I NM_080546.3 NP_536856.2 Q8WWI5 CTL1_HUMAN solute carrier family 44 (choline transporter), member 1 574 integral to membrane|mitochondrial outer membrane|plasma membrane choline transmembrane transporter activity breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1) 38 Choline(DB00122) CTCTGATCATCGTCTGCCTCT 0.443000 136 225 0 0 1 0 0 ASTN2 23245 broad.mit.edu 37 9 119903639 119903639 + Silent SNP C C T rs150517462 TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:119903639C>T ENST00000313400.4 - 4 1234 c.1134G>A c.(1132-1134)tcG>tcA p.S378S ASTN2_ENST00000361209.2_Intron|ASTN2_ENST00000373996.3_Silent_p.S378S|ASTN2_ENST00000361477.3_Intron O75129 ASTN2_HUMAN astrotactin 2 378 integral to membrane breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1) 102 TCTTCCCTGCCGATGTGCTGC 0.577000 21 60 0 0 1 0 0 PI4K2B 55300 broad.mit.edu 37 4 25253984 25253984 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:25253984C>T ENST00000264864.6 + 2 499 c.310C>T c.(310-312)Cca>Tca p.P104S PI4K2B_ENST00000512921.1_Missense_Mutation_p.P8S NM_018323.3 NP_060793.2 Q8TCG2 P4K2B_HUMAN phosphatidylinositol 4-kinase type 2 beta 104 cytoplasm|membrane 1-phosphatidylinositol 4-kinase activity|ATP binding endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(3)|skin(3) 15 Breast(46;0.173) CTTGGATGACCCAGAATTTGC 0.378000 34 98 0 0 1 0 0 MYLK 4638 broad.mit.edu 37 3 123419169 123419169 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:123419169G>A ENST00000360772.3 - 19 3524 c.3146C>T c.(3145-3147)cCc>cTc p.P1049L MYLK_ENST00000346322.5_Missense_Mutation_p.P980L|MYLK_ENST00000475616.1_Missense_Mutation_p.P1049L|MYLK_ENST00000360304.3_Missense_Mutation_p.P1049L|MYLK_ENST00000359169.1_Missense_Mutation_p.P1049L Q15746 MYLK_HUMAN myosin light chain kinase 1049 6 X 12 AA approximate tandem repeats. KPM -> EAH (in Ref. 1 and 7). aorta smooth muscle tissue morphogenesis|muscle contraction cytosol actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 113 Lung NSC(201;0.0496) GBM - Glioblastoma multiforme(114;0.0736) ATTGCCCATGGGCTTCAGGGT 0.542000 117 281 0 0 1 0 0 MYO5C 55930 broad.mit.edu 37 15 52531994 52531994 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr15:52531994C>T ENST00000261839.7 - 21 2800 c.2639G>A c.(2638-2640)cGa>cAa p.R880Q MYO5C_ENST00000443683.2_Intron NM_018728.3 NP_061198.2 Q9NQX4 MYO5C_HUMAN myosin VC 880 IQ 5. myosin complex actin binding|ATP binding|calmodulin binding|motor activity breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 66 all cancers(107;0.0137) AAGCACGAATCGTCGGATACT 0.438000 39 51 0 0 1 0 0 RFPL4B 442247 broad.mit.edu 37 6 112671295 112671295 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:112671295G>A ENST00000441065.2 + 3 697 c.385G>A c.(385-387)Gat>Aat p.D129N RP11-506B6.6_ENST00000587816.1_RNA NM_001013734.2 NP_001013756.2 Q6ZWI9 RFPLB_HUMAN ret finger protein-like 4B 129 B30.2/SPRY. zinc ion binding breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|skin(1) 14 all_cancers(87;9.44e-05)|all_hematologic(75;0.000114)|all_epithelial(87;0.00265)|Colorectal(196;0.0209) all cancers(137;0.0202)|OV - Ovarian serous cystadenocarcinoma(136;0.0477)|Epithelial(106;0.0646)|GBM - Glioblastoma multiforme(226;0.0866)|BRCA - Breast invasive adenocarcinoma(108;0.244) TCTGACAAAAGATCCCAGGCT 0.557000 35 80 0 0 1 0 0 SPAST 6683 broad.mit.edu 37 2 32352058 32352058 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:32352058C>T ENST00000315285.3 + 8 1265 c.1140C>T c.(1138-1140)ctC>ctT p.L380L SPAST_ENST00000345662.1_Silent_p.L348L NM_014946.3 NP_055761.2 Q9UBP0 SPAST_HUMAN spastin 380 Sufficient for microtubule severing. cell cycle|cell death|cell differentiation|cytokinesis, completion of separation|ER to Golgi vesicle-mediated transport|microtubule bundle formation|microtubule severing|nervous system development|protein hexamerization|protein homooligomerization endoplasmic reticulum|endosome|integral to membrane|microtubule|microtubule organizing center|nucleus|perinuclear region of cytoplasm|spindle alpha-tubulin binding|ATP binding|beta-tubulin binding|microtubule binding|microtubule-severing ATPase activity breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(8)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208) GGCTGTTACTCTTTGGTCCAC 0.358000 20 51 0 0 1 0 0 MUC2 4583 broad.mit.edu 37 11 1097356 1097356 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:1097356G>A ENST00000441003.2 + 35 6799 c.6772G>A c.(6772-6774)Ggc>Agc p.G2258S MUC2_ENST00000361558.6_Missense_Mutation_p.G396S NM_002457.2 NP_002448.2 Q02817 MUC2_HUMAN mucin 2, oligomeric mucus/gel-forming 4620 inner mucus layer|outer mucus layer protein binding NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 102 all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191) BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) Pranlukast(DB01411) CAACACCAAGGGCCAGTGTGG 0.677000 23 23 0 0 1 0 0 MYO1E 4643 broad.mit.edu 37 15 59430537 59430537 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr15:59430537G>A ENST00000288235.4 - 27 3509 c.3110C>T c.(3109-3111)cCc>cTc p.P1037L NM_004998.3 NP_004989.2 Q12965 MYO1E_HUMAN myosin IE 1037 actin filament-based movement myosin complex actin binding|ATP binding|ATPase activity, coupled|calmodulin binding|microfilament motor activity breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(6)|lung(10)|pancreas(2)|prostate(1)|urinary_tract(1) 33 all cancers(107;0.207) CCCTGCTGGGGGAGGCCGACT 0.622000 OREG0023155 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 58 143 0 0 1 0 0 TRAPPC9 83696 broad.mit.edu 37 8 140744256 140744256 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:140744256G>A ENST00000389328.4 - 22 3553 c.3539C>T c.(3538-3540)tCc>tTc p.S1180F TRAPPC9_ENST00000389327.3_Missense_Mutation_p.S1073F|TRAPPC9_ENST00000438773.2_Missense_Mutation_p.S1082F|TRAPPC9_ENST00000522504.1_5'UTR NM_031466.5 NP_113654.4 Q96Q05 TPPC9_HUMAN trafficking protein particle complex 9 1082 cell differentiation endoplasmic reticulum|Golgi apparatus breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 47 GCCCACGAAGGAGACGGTGTC 0.657000 5 17 0 0 1 0 0 COL8A2 1296 broad.mit.edu 37 1 36564717 36564717 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:36564717C>T ENST00000397799.1 - 4 789 c.565G>A c.(565-567)Gaa>Aaa p.E189K COL8A2_ENST00000303143.4_Missense_Mutation_p.E189K|COL8A2_ENST00000481785.1_Missense_Mutation_p.E124K P25067 CO8A2_HUMAN collagen, type VIII, alpha 2 189 Triple-helical region. angiogenesis|cell-cell adhesion|extracellular matrix organization basement membrane|collagen extracellular matrix structural constituent|protein binding, bridging NS(2)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 17 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) GGCCCTGGTTCCCCCTGGAAT 0.721000 3 15 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179595841 179595841 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:179595841C>T ENST00000589042.1 - 60 17775 c.17551G>A c.(17551-17553)Gag>Aag p.E5851K TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.E5534K|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E4607K|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 5534 Ig-like 39. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GCTGTAATCTCCTTAGTCCCT 0.418000 12 178 0 0 1 0 0 SPSB4 92369 broad.mit.edu 37 3 140785182 140785182 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:140785182C>T ENST00000310546.2 + 2 980 c.236C>T c.(235-237)cCc>cTc p.P79L NM_080862.1 NP_543138.1 Q96A44 SPSB4_HUMAN splA/ryanodine receptor domain and SOCS box containing 4 79 B30.2/SPRY. intracellular signal transduction cytoplasm protein binding biliary_tract(1)|large_intestine(1)|lung(1)|pancreas(1) 4 CACCGGCACCCCGTGGCCCAG 0.731000 5 11 0 0 1 0 0 PKHD1L1 93035 broad.mit.edu 37 8 110476857 110476857 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:110476857G>A ENST00000378402.5 + 49 7900 c.7796G>A c.(7795-7797)aGa>aAa p.R2599K NM_177531.4 NP_803875.2 Q86WI1 PKHL1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 2599 immune response cytosol|extracellular space|integral to membrane receptor activity NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4) 263 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) TCCTATGACAGAAACATTTGT 0.438000 HNSCC(38;0.096) 37 68 0 0 1 0 0 ROS1 6098 broad.mit.edu 37 6 117746737 117746737 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:117746737G>A ENST00000368508.3 - 1 281 c.83C>T c.(82-84)aCa>aTa p.T28I ROS1_ENST00000368507.3_Missense_Mutation_p.T28I|GOPC_ENST00000467125.1_Intron NM_002944.2 NP_002935.2 P08922 ROS_HUMAN c-ros oncogene 1 , receptor tyrosine kinase 28 transmembrane receptor protein tyrosine kinase signaling pathway membrane fraction|sodium:potassium-exchanging ATPase complex ATP binding|transmembrane receptor protein tyrosine kinase activity TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7) NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 162 all_cancers(87;0.00846)|all_epithelial(87;0.0242) GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137) ATTTAAAACTGTACACTGCAC 0.393000 T """GOPC, SDC4, SLC34A2, EZR, LRIG3""" """glioblastoma, NSCLC""" 39 109 0 0 1 0 0 KALRN 8997 broad.mit.edu 37 3 124149510 124149510 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:124149510G>A ENST00000360013.3 + 16 2838 c.2711G>A c.(2710-2712)gGa>gAa p.G904E KALRN_ENST00000460856.1_Missense_Mutation_p.G904E|KALRN_ENST00000240874.3_Missense_Mutation_p.G904E NM_001024660.3 NP_001019831.2 O60229 KALRN_HUMAN kalirin, RhoGEF kinase 904 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport actin cytoskeleton|cytosol ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 83 TAGGTTCTGGGATGGATCCGC 0.572000 27 50 0 0 1 0 0 ITSN2 50618 broad.mit.edu 37 2 24431167 24431167 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:24431167G>A ENST00000355123.4 - 37 5060 c.4617C>T c.(4615-4617)atC>atT p.I1539I ITSN2_ENST00000361999.3_Silent_p.I1512I NM_006277.2 NP_006268.2 Q9NZM3 ITSN2_HUMAN intersectin 2 1539 PH. endocytosis|regulation of Rho protein signal transduction cytoplasm calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1) 61 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) ACGCCGCCTTGATCTTCTGCA 0.632000 12 147 0 0 1 0 0 NCKAP5 344148 broad.mit.edu 37 2 133542202 133542202 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:133542202C>T ENST00000409261.1 - 14 2555 c.2182G>A c.(2182-2184)Gac>Aac p.D728N NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000317721.6_Missense_Mutation_p.D728N NM_207363.2 NP_997246.2 O14513 NCKP5_HUMAN NCK-associated protein 5 728 protein binding NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 118 AAAGTATAGTCTCTTGCAGCA 0.418000 50 74 0 0 1 0 0 C15orf32 145858 broad.mit.edu 37 15 93015752 93015752 + Splice_Site SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr15:93015752G>A ENST00000333334.2 + 1 869 c.374_splice c.e1+1 p.R125_splice C15orf32_ENST00000556865.1_Splice_Site_p.R125_splice NM_153040.2 NP_694585.1 Q32M92 CO032_HUMAN chromosome 15 open reading frame 32 125 endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(2) 12 Lung NSC(78;0.0893)|all_lung(78;0.125) BRCA - Breast invasive adenocarcinoma(143;0.0493)|OV - Ovarian serous cystadenocarcinoma(32;0.125) CTTGTCATAAGGTGAGCCTGC 0.502000 24 60 0 0 1 0 0 JADE2 23338 broad.mit.edu 37 5 133901836 133901836 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:133901836C>T ENST00000395003.1 + 9 1179 c.1000C>T c.(1000-1002)Cat>Tat p.H334Y PHF15_ENST00000361895.2_Missense_Mutation_p.H334Y|PHF15_ENST00000282605.4_Missense_Mutation_p.H334Y|PHF15_ENST00000402835.1_Missense_Mutation_p.H334Y NM_015288.4 NP_056103.4 Q9NQC1 JADE2_HUMAN 334 histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation histone acetyltransferase complex zinc ion binding NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|skin(1) 22 KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) CACAGCGTTCCATGTCACATG 0.562000 51 139 0 0 1 0 0 GABRA4 2557 broad.mit.edu 37 4 46979546 46979546 + Silent SNP C C T rs80176186 TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:46979546C>T ENST00000264318.3 - 4 1357 c.375G>A c.(373-375)acG>acA p.T125T NM_000809.3|NM_001204266.1|NM_001204267.1 NP_000800.2|NP_001191195.1|NP_001191196.1 P48169 GBRA4_HUMAN gamma-aminobutyric acid (GABA) A receptor, alpha 4 125 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) TCCACACTTTCGTTACCATCA 0.353000 36 71 0 0 1 0 0 VIPR1 7433 broad.mit.edu 37 3 42568962 42568962 + Silent SNP C C T rs149397146 byFrequency TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:42568962C>T ENST00000433647.1 + 6 978 c.354C>T c.(352-354)gtC>gtT p.V118V VIPR1-AS1_ENST00000596630.1_RNA|VIPR1-AS1_ENST00000593611.1_RNA|VIPR1_ENST00000438259.2_Intron|VIPR1_ENST00000473575.1_3'UTR|VIPR1-AS1_ENST00000593621.1_RNA|VIPR1-AS1_ENST00000452639.2_RNA|VIPR1-AS1_ENST00000602176.1_RNA|VIPR1-AS1_ENST00000601312.1_RNA|VIPR1-AS1_ENST00000600342.1_RNA|VIPR1-AS1_ENST00000598837.1_RNA|VIPR1_ENST00000325123.4_Silent_p.V159V|VIPR1_ENST00000543411.1_Silent_p.V111V NM_001251882.1 NP_001238811.1 P32241 VIPR1_HUMAN vasoactive intestinal peptide receptor 1 159 digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|immune response|muscle contraction|positive regulation of cell proliferation|synaptic transmission integral to plasma membrane vasoactive intestinal polypeptide receptor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|ovary(2)|skin(1)|urinary_tract(3) 18 KIRC - Kidney renal clear cell carcinoma(284;0.241) CCCTTCTGGTCGCCACAGCTA 0.612000 40 70 0 0 1 0 0 SIGIRR 59307 broad.mit.edu 37 11 406531 406531 + Missense_Mutation SNP G G A rs150864495 TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:406531G>A ENST00000431843.2 - 9 1193 c.887C>T c.(886-888)tCc>tTc p.S296F SIGIRR_ENST00000531205.1_Missense_Mutation_p.S296F|SIGIRR_ENST00000332725.3_Missense_Mutation_p.S296F|SIGIRR_ENST00000382520.2_Missense_Mutation_p.S296F|SIGIRR_ENST00000397632.3_Missense_Mutation_p.S296F NM_001135054.1 NP_001128526.1 Q6IA17 SIGIR_HUMAN single immunoglobulin and toll-interleukin 1 receptor (TIR) domain 296 TIR. acute-phase response|innate immune response|negative regulation of chemokine biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of lipopolysaccharide-mediated signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity integral to membrane protein binding|transmembrane receptor activity cervix(2)|endometrium(1)|liver(1)|lung(5)|prostate(2)|skin(1)|urinary_tract(1) 13 all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703) AAAATCGGAGGAAGGAGTCTG 0.657000 36 37 0 0 1 0 0 FAM111B 374393 broad.mit.edu 37 11 58891656 58891656 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:58891656C>T ENST00000343597.3 + 4 277 c.86C>T c.(85-87)aCt>aTt p.T29I FAM111B_ENST00000529618.1_5'UTR|FAM111B_ENST00000411426.1_5'UTR NM_198947.3 NP_945185.1 Q6SJ93 F111B_HUMAN family with sequence similarity 111, member B 29 catalytic activity endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(12)|ovary(3)|pancreas(1)|skin(1) 40 TTTAAGGATACTGTCATGAAG 0.308000 42 75 0 0 1 0 0 RAPGEF2 9693 broad.mit.edu 37 4 160235842 160235842 + Missense_Mutation SNP T T C TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:160235842T>C ENST00000264431.4 + 3 711 c.292T>C c.(292-294)Tca>Cca p.S98P RAPGEF2_ENST00000504604.1_3'UTR NM_014247.2 NP_055062.1 Q9Y4G8 RPGF2_HUMAN Rap guanine nucleotide exchange factor (GEF) 2 98 cAMP-mediated signaling|MAPKKK cascade|small GTPase mediated signal transduction integral to plasma membrane|intracellular calcium ion binding|diacylglycerol binding|Rap GTPase activator activity|Rap guanyl-nucleotide exchange factor activity|signal transducer activity breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 70 all_hematologic(180;0.24) COAD - Colon adenocarcinoma(41;0.0817) TGAGAGAGCATCAGATCCTCT 0.498000 28 64 0 0 1 0 0 C2orf78 388960 broad.mit.edu 37 2 74044043 74044043 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:74044043C>T ENST00000409561.1 + 3 2814 c.2693C>T c.(2692-2694)tCt>tTt p.S898F NM_001080474.1 NP_001073943.1 A6NCI8 CB078_HUMAN chromosome 2 open reading frame 78 898 cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|soft_tissue(1)|urinary_tract(1) 34 AAATACACCTCTTTGGGGAAA 0.443000 7 26 0 0 1 0 0 SAMD9 54809 broad.mit.edu 37 7 92733876 92733876 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:92733876G>A ENST00000379958.2 - 3 1804 c.1535C>T c.(1534-1536)tCc>tTc p.S512F NM_001193307.1|NM_017654.3 NP_001180236.1|NP_060124.2 Q5K651 SAMD9_HUMAN sterile alpha motif domain containing 9 512 cytoplasm NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 88 all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125) STAD - Stomach adenocarcinoma(171;0.000302) TCTTTGCCAGGAACTTGGATC 0.378000 76 190 0 0 1 0 0 ZNF831 128611 broad.mit.edu 37 20 57766789 57766789 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr20:57766789G>A ENST00000371030.2 + 1 715 c.715G>A c.(715-717)Gaa>Aaa p.E239K NM_178457.1 NP_848552.1 Q5JPB2 ZN831_HUMAN zinc finger protein 831 239 intracellular nucleic acid binding|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3) 125 all_lung(29;0.0085) GGGGATGCACGAAGGCGCCTC 0.701000 31 74 0 0 1 0 0 FAT4 79633 broad.mit.edu 37 4 126411597 126411597 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:126411597G>A ENST00000394329.3 + 17 13633 c.13620G>A c.(13618-13620)gaG>gaA p.E4540E FAT4_ENST00000335110.5_Silent_p.E2781E NM_024582.4 NP_078858.4 Q6V0I7 FAT4_HUMAN FAT atypical cadherin 4 4540 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6) 355 CCAAAGAGGAGAAGAAACCGA 0.522000 8 103 0 0 1 0 0 CSPP1 79848 broad.mit.edu 37 8 67986530 67986530 + Missense_Mutation SNP A A G TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:67986530A>G ENST00000262210.5 + 2 182 c.151A>G c.(151-153)Aga>Gga p.R51G COPS5_ENST00000519963.1_Intron|CSPP1_ENST00000412460.1_5'UTR NM_024790.6 NP_079066.5 Q1MSJ5 CSPP1_HUMAN centrosome and spindle pole associated protein 1 51 centrosome|microtubule|spindle NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|prostate(3)|skin(1)|urinary_tract(1) 49 Breast(64;0.214) Lung NSC(129;0.0908)|all_lung(136;0.152) Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153) GCAAAAAGCCAGATTGGCCGA 0.303000 51 104 0 0 1 0 0 ANKRD17 26057 broad.mit.edu 37 4 74010469 74010469 + Missense_Mutation SNP A A C TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:74010469A>C ENST00000358602.4 - 11 2066 c.1950T>G c.(1948-1950)atT>atG p.I650M ANKRD17_ENST00000509867.2_Missense_Mutation_p.I537M|ANKRD17_ENST00000514252.1_5'UTR|ANKRD17_ENST00000330838.6_Missense_Mutation_p.I650M NM_032217.3 NP_115593.3 O75179 ANR17_HUMAN ankyrin repeat domain 17 650 interspecies interaction between organisms cytoplasm|nucleus RNA binding NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3) 96 Breast(15;0.000295) Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) TACCTTTACTAATTAAGAACT 0.338000 13 37 0 0 1 0 0 TRBV24-1 28563 broad.mit.edu 37 7 142364606 142364606 + RNA SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:142364606G>A ENST00000390397.2 + 0 277 AGAGATCTCTGATGGATACAG 0.468000 25 76 0 0 1 0 0 DDC 1644 broad.mit.edu 37 7 50566882 50566882 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:50566882G>A ENST00000444124.2 - 8 1040 c.840C>T c.(838-840)atC>atT p.I280I DDC_ENST00000426377.1_Silent_p.I202I|DDC_ENST00000380984.4_Silent_p.I280I|DDC_ENST00000357936.5_Silent_p.I280I|DDC_ENST00000431062.1_Silent_p.I187I NM_001082971.1 NP_001076440.1 P20711 DDC_HUMAN dopa decarboxylase (aromatic L-amino acid decarboxylase) 280 cellular amino acid metabolic process|hormone biosynthetic process|neurotransmitter secretion cytosol aromatic-L-amino-acid decarboxylase activity|protein binding|pyridoxal phosphate binding breast(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(23)|ovary(4)|skin(2)|stomach(1) 40 Glioma(55;0.08)|all_neural(89;0.245) Amantadine(DB00915)|Carbidopa(DB00190)|Flupenthixol(DB00875)|L-Tryptophan(DB00150)|Levodopa(DB01235)|Pimozide(DB01100)|Pyridoxal Phosphate(DB00114)|Remoxipride(DB00409) ACTCAGGGCAGATGAATGCAC 0.517000 35 40 0 0 1 0 0 LRP1B 53353 broad.mit.edu 37 2 141093214 141093214 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:141093214G>A ENST00000389484.3 - 78 13057 c.12086C>T c.(12085-12087)cCc>cTc p.P4029L NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 4029 protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) AATAGCATAGGGTTCTCCAGC 0.393000 TSP Lung(27;0.18) 41 85 0 0 1 0 0 LPAR4 2846 broad.mit.edu 37 X 78010978 78010978 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chrX:78010978C>T ENST00000435339.2 + 2 1017 c.612C>T c.(610-612)atC>atT p.I204I LPAR4_ENST00000373301.2_Silent_p.I204I NM_005296.2 NP_005287.1 Q99677 LPAR4_HUMAN lysophosphatidic acid receptor 4 204 integral to plasma membrane lipid binding|purinergic nucleotide receptor activity, G-protein coupled breast(3)|endometrium(3)|kidney(4)|large_intestine(4)|lung(16)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2) 38 TATCCAAGATCACAATATTTA 0.408000 36 18 0 0 1 0 0 PCDH12 51294 broad.mit.edu 37 5 141336442 141336442 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:141336442C>T ENST00000231484.3 - 1 2185 c.975G>A c.(973-975)agG>agA p.R325R NM_016580.2 NP_057664.1 Q9NPG4 PCD12_HUMAN protocadherin 12 325 Cadherin 3. neuron recognition integral to plasma membrane calcium ion binding breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1) 38 all_hematologic(541;0.0999) KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GACCCAGGTCCCTTGCCTGAA 0.522000 45 70 0 0 1 0 0 LILRB4 11006 broad.mit.edu 37 19 55175691 55175691 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:55175691G>A ENST00000391736.1 + 6 725 c.410G>A c.(409-411)gGa>gAa p.G137E LILRB4_ENST00000391733.3_Missense_Mutation_p.G137E|LILRB4_ENST00000430952.2_Missense_Mutation_p.G137E|LILRB4_ENST00000391734.3_Missense_Mutation_p.G137E|LILRB4_ENST00000270452.2_Missense_Mutation_p.G137E NM_001278426.2|NM_001278428.2|NM_001278429.2|NM_001278430.2 NP_001265355.1|NP_001265357.1|NP_001265358.1|NP_001265359.1 Q8NHJ6 LIRB4_HUMAN leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4 137 Ig-like C2-type 2. integral to membrane|plasma membrane antigen binding|receptor activity breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(20)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(3) 39 GBM - Glioblastoma multiforme(193;0.035) GTGACCTCAGGAAAGAGCGTG 0.562000 49 141 0 0 1 0 0 SOCS4 122809 broad.mit.edu 37 14 55510053 55510053 + Silent SNP C C T rs61755583 byFrequency TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr14:55510053C>T ENST00000395472.2 + 2 626 c.294C>T c.(292-294)gcC>gcT p.A98A SOCS4_ENST00000339298.2_Silent_p.A98A|SOCS4_ENST00000555846.1_Silent_p.A98A NM_080867.2|NM_199421.1 NP_543143.1|NP_955453.1 Q8WXH5 SOCS4_HUMAN suppressor of cytokine signaling 4 98 intracellular signal transduction|negative regulation of signal transduction|regulation of growth central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(1) 14 TGCAAGATGCCGTGGGGCAGT 0.418000 47 102 0 0 1 0 0 NADK 65220 broad.mit.edu 37 1 1685499 1685499 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:1685499G>A ENST00000344463.4 - 12 1748 c.1527C>T c.(1525-1527)gtC>gtT p.V509V NADK_ENST00000342348.5_Silent_p.V332V|NADK_ENST00000341426.5_Silent_p.V364V|NADK_ENST00000378625.1_Silent_p.V509V|NADK_ENST00000341991.3_Silent_p.V364V O95544 NADK_HUMAN NAD kinase 364 ATP metabolic process|NAD metabolic process|water-soluble vitamin metabolic process cytosol ATP binding|metal ion binding|NAD+ kinase activity|protein binding NS(1)|autonomic_ganglia(1)|endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)|stomach(1)|urinary_tract(1) 17 all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;5.61e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128) Epithelial(90;8.75e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.33e-23)|GBM - Glioblastoma multiforme(42;1.35e-07)|Colorectal(212;0.000203)|COAD - Colon adenocarcinoma(227;0.000225)|Kidney(185;0.00265)|STAD - Stomach adenocarcinoma(132;0.00655)|BRCA - Breast invasive adenocarcinoma(365;0.00855)|KIRC - Kidney renal clear cell carcinoma(229;0.0382)|Lung(427;0.207) CCTTCAGCTCGACCCCTGCGG 0.632000 5 131 0 0 1 0 0 PDE1B 5153 broad.mit.edu 37 12 54963046 54963046 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:54963046C>T ENST00000243052.3 + 4 742 c.306C>T c.(304-306)gcC>gcT p.A102A PDE1B_ENST00000394277.3_Intron|PDE1B_ENST00000538346.1_Silent_p.A61A|PDE1B_ENST00000550620.1_Silent_p.A82A NM_000924.3 NP_000915.1 Q01064 PDE1B_HUMAN phosphodiesterase 1B, calmodulin-dependent 102 activation of phospholipase C activity|apoptosis|nerve growth factor receptor signaling pathway|platelet activation cytosol|nucleus 3',5'-cyclic-AMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding endometrium(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(4) 31 ACTGGCTGGCCTCCACCTTCA 0.647000 43 92 0 0 1 0 0 EXOC3L1 283849 broad.mit.edu 37 16 67223010 67223010 + Silent SNP G G T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr16:67223010G>T ENST00000314586.6 - 3 360 c.120C>A c.(118-120)atC>atA p.I40I EXOC3L1_ENST00000562887.1_5'UTR NM_178516.3 NP_848611.2 Q86VI1 EX3L1_HUMAN exocyst complex component 3-like 1 40 Mediates interaction with EXOC2, EXOC4 and EXOC5 (By similarity). exocytosis|peptide hormone secretion exocyst|stored secretory granule|transport vesicle breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|skin(3)|upper_aerodigestive_tract(1) 21 GCCGGTAGAAGATGCCTGAGG 0.692000 9 14 3.09899e-07 3.11352e-07 1 1 0 C1orf141 400757 broad.mit.edu 37 1 67561996 67561996 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:67561996C>T ENST00000371007.2 - 6 464 c.355G>A c.(355-357)Gaa>Aaa p.E119K C1orf141_ENST00000371006.1_Missense_Mutation_p.E119K|C1orf141_ENST00000544837.1_Missense_Mutation_p.E119K NM_001276351.1 NP_001263280.1 Q5JVX7 CA141_HUMAN chromosome 1 open reading frame 141 119 NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|skin(1) 18 GGTTTTTTTTCAATTTGAGCT 0.244000 7 25 0 0 1 0 0 SETD9 133383 broad.mit.edu 37 5 56208889 56208889 + Missense_Mutation SNP C C T rs144207188 TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:56208889C>T ENST00000285947.2 + 3 904 c.518C>T c.(517-519)cCg>cTg p.P173L SETD9_ENST00000475908.1_3'UTR|SETD9_ENST00000541720.1_Missense_Mutation_p.P173L NM_153706.3 NP_714917.2 Q8NE22 CE035_HUMAN SET domain containing 9 173 ATTGGAAATCCGTTTATTTTT 0.348000 13 141 0 0 1 0 0 CDHR3 222256 broad.mit.edu 37 7 105658307 105658307 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:105658307G>A ENST00000542731.1 + 12 1550 c.1442G>A c.(1441-1443)gGa>gAa p.G481E CDHR3_ENST00000343407.5_Intron|CDHR3_ENST00000317716.9_Missense_Mutation_p.G481E|CDHR3_ENST00000478080.1_Missense_Mutation_p.G393E|CDHR3_ENST00000470188.1_Intron Q6ZTQ4 CDHR3_HUMAN cadherin-related family member 3 481 Cadherin 5. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(1)|cervix(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(1) 23 ACCCGAGTGGGACAGGTGCGA 0.512000 9 17 0 0 1 0 0 FAM47B 170062 broad.mit.edu 37 X 34961414 34961414 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chrX:34961414G>A ENST00000329357.5 + 1 502 c.466G>A c.(466-468)Gag>Aag p.E156K NM_152631.2 NP_689844.2 Q8NA70 FA47B_HUMAN family with sequence similarity 47, member B 156 breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3) 71 GCTGGATCCCGAGAGGAAGCT 0.567000 41 13 0 0 1 0 0 RFC1 5981 broad.mit.edu 37 4 39343988 39343988 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:39343988G>A ENST00000381897.1 - 4 441 c.308C>T c.(307-309)cCt>cTt p.P103L RFC1_ENST00000418436.1_5'UTR|RFC1_ENST00000349703.2_Missense_Mutation_p.P103L NM_001204747.1|NM_002913.4 NP_001191676.1|NP_002904.3 P35251 RFC1_HUMAN replication factor C (activator 1) 1, 145kDa 103 DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|telomere maintenance via telomerase|transcription, DNA-dependent|transcription-coupled nucleotide-excision repair DNA replication factor C complex|nucleoplasm ATP binding|DNA clamp loader activity|enzyme activator activity|protein binding haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 16 GTATGTAACAGGATCCTGCCG 0.403000 27 55 0 0 1 0 0 USP21 27005 broad.mit.edu 37 1 161130930 161130930 + Missense_Mutation SNP C C A rs140569144 TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:161130930C>A ENST00000368002.3 + 3 877 c.500C>A c.(499-501)cCt>cAt p.P167H USP21_ENST00000289865.8_Missense_Mutation_p.P167H|USP21_ENST00000368001.1_Missense_Mutation_p.P167H NM_001014443.2 NP_001014443.1 Q9UK80 UBP21_HUMAN ubiquitin specific peptidase 21 167 histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process nucleus metal ion binding|NEDD8-specific protease activity|protein binding|transcription coactivator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|prostate(3) 29 all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00275) CCTGGACCCCCTACCCTGTTC 0.612000 25 89 9.86323e-18 9.95451e-18 1 1 0 OR56B4 196335 broad.mit.edu 37 11 6129452 6129452 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:6129452C>T ENST00000316529.3 + 1 539 c.444C>T c.(442-444)ttC>ttT p.F148F RP11-290F24.3_ENST00000529961.1_RNA NM_001005181.1 NP_001005181.1 Q8NH76 O56B4_HUMAN olfactory receptor, family 56, subfamily B, member 4 148 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|central_nervous_system(1)|endometrium(1)|lung(10)|skin(6)|urinary_tract(2) 21 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;1.31e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135) CTTTTGTCTTCAAAGCCACAG 0.498000 53 47 0 0 1 0 0 IGKV1D-42 28892 broad.mit.edu 37 2 90229490 90229490 + RNA SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:90229490G>A ENST00000390278.2 + 0 330 GAAGCCTGAAGATTTTGCAGC 0.473000 30 67 0 0 1 0 0 SPTAN1 6709 broad.mit.edu 37 9 131343213 131343213 + Missense_Mutation SNP T T A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:131343213T>A ENST00000358161.5 + 11 1449 c.1336T>A c.(1336-1338)Tcc>Acc p.S446T SPTAN1_ENST00000372731.4_Missense_Mutation_p.S446T|SPTAN1_ENST00000372739.3_Missense_Mutation_p.S446T Q13813 SPTA2_HUMAN spectrin, alpha, non-erythrocytic 1 446 actin filament capping|axon guidance|cellular component disassembly involved in apoptosis cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 87 GACCGTCCTTTCCGAGGAGAG 0.597000 31 81 0 0 1 0 0 TMCC1 23023 broad.mit.edu 37 3 129547179 129547179 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:129547179G>A ENST00000393238.3 - 3 383 c.43C>T c.(43-45)Cct>Tct p.P15S TMCC1_ENST00000426664.2_Intron NM_001017395.3 NP_001017395.2 O94876 TMCC1_HUMAN transmembrane and coiled-coil domain family 1 15 integral to membrane PLXND1/TMCC1(4) breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1) 25 TTGCCTCCAGGATCAGGGTCC 0.398000 9 175 0 0 1 0 0 PLCZ1 89869 broad.mit.edu 37 12 18854447 18854447 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:18854447G>A ENST00000266505.7 - 9 1268 c.1005C>T c.(1003-1005)ttC>ttT p.F335F PLCZ1_ENST00000541695.1_Silent_p.F198F|PLCZ1_ENST00000538330.1_Silent_p.F117F|PLCZ1_ENST00000542762.1_5'UTR|PLCZ1_ENST00000539875.1_Silent_p.F142F|PLCZ1_ENST00000447925.2_Silent_p.F333F|PLCZ1_ENST00000435379.1_Silent_p.F140F Q86YW0 PLCZ1_HUMAN phospholipase C, zeta 1 335 intracellular signal transduction|lipid catabolic process|multicellular organismal development nucleus|perinuclear region of cytoplasm calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1) 31 Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241) TCTTTTTCTTGAAAAGCATTA 0.318000 36 68 0 0 1 0 0 SOGA3 387104 broad.mit.edu 37 6 127797571 127797571 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:127797571C>T ENST00000556132.1 - 6 2464 c.1600G>A c.(1600-1602)Gaa>Aaa p.E534K SOGA3_ENST00000481848.2_Missense_Mutation_p.E534K|SOGA3_ENST00000465909.2_Missense_Mutation_p.E534K|SOGA3_ENST00000368268.2_Missense_Mutation_p.E534K|SOGA3_ENST00000525778.1_Missense_Mutation_p.E534K NM_001012279.2 NP_001012279.1 Q5TF21 CF174_HUMAN SOGA family member 3 534 integral to membrane GCGGCTTCTTCCTTAACAAAC 0.403000 67 109 0 0 1 0 0 KRT32 3882 broad.mit.edu 37 17 39622094 39622094 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:39622094C>T ENST00000225899.3 - 3 742 c.639G>A c.(637-639)aaG>aaA p.K213K NM_002278.3 NP_002269.3 Q14532 K1H2_HUMAN keratin 32 213 Coil 1B.|Rod. epidermis development intermediate filament protein binding|structural molecule activity p.K213K(1) central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 Breast(137;0.000812) CCAGGTCAGCCTTGCACAGAG 0.602000 35 98 0 0 1 0 0 PRUNE2 158471 broad.mit.edu 37 9 79322118 79322118 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:79322118C>T ENST00000428286.1 - 8 5195 c.3995G>A c.(3994-3996)aGt>aAt p.S1332N PRUNE2_ENST00000376718.3_Missense_Mutation_p.S1691N Q8WUY3 PRUN2_HUMAN prune homolog 2 (Drosophila) 1691 apoptosis|G1 phase|induction of apoptosis cytoplasm metal ion binding|pyrophosphatase activity endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1) 16 ACCACCGACACTGTCATCATC 0.463000 30 41 0 0 1 0 0 PCDHA6 56142 broad.mit.edu 37 5 140209177 140209177 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:140209177G>A ENST00000529310.1 + 1 1615 c.1501G>A c.(1501-1503)Gag>Aag p.E501K PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Missense_Mutation_p.E501K|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron NM_018909.2|NM_031848.1|NM_031849.1 NP_061732.1|NP_114036.1|NP_114037.1 NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 89 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCGGGTGGGCGAGCGCGCGTT 0.672000 38 85 0 0 1 0 0 PRUNE2 158471 broad.mit.edu 37 9 79323143 79323143 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:79323143C>T ENST00000428286.1 - 8 4170 c.2970G>A c.(2968-2970)gtG>gtA p.V990V PRUNE2_ENST00000376718.3_Silent_p.V1349V Q8WUY3 PRUN2_HUMAN prune homolog 2 (Drosophila) 1349 apoptosis|G1 phase|induction of apoptosis cytoplasm metal ion binding|pyrophosphatase activity endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1) 16 AGGCATTCTCCACACCAGAGG 0.502000 4 102 0 0 1 0 0 TTC6 319089 broad.mit.edu 37 14 38278040 38278040 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr14:38278040G>A ENST00000553443.1 + 24 4558 c.4558G>A c.(4558-4560)Gaa>Aaa p.E1520K TTC6_ENST00000476979.1_Missense_Mutation_p.E154K|TTC6_ENST00000382320.3_Missense_Mutation_p.E234K|TTC6_ENST00000267368.7_Missense_Mutation_p.E154K tetratricopeptide repeat domain 6 central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|stomach(1)|urinary_tract(1) 14 Hepatocellular(127;0.213)|Esophageal squamous(585;0.22) Lung(238;1.59e-06)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0543)|all cancers(34;0.108)|BRCA - Breast invasive adenocarcinoma(188;0.156)|LUSC - Lung squamous cell carcinoma(13;0.176) GBM - Glioblastoma multiforme(112;0.00551) CAAGATAAGGGAACTTCAAAT 0.279000 47 122 0 0 1 0 0 WFS1 7466 broad.mit.edu 37 4 6303491 6303491 + Missense_Mutation SNP A A T rs71532861 TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:6303491A>T ENST00000226760.1 + 8 2139 c.1969A>T c.(1969-1971)Atg>Ttg p.M657L WFS1_ENST00000503569.1_Missense_Mutation_p.M657L NM_001145853.1|NM_006005.3 NP_001139325.1|NP_005996.2 O76024 WFS1_HUMAN Wolfram syndrome 1 (wolframin) 657 endoplasmic reticulum calcium ion homeostasis|endoplasmic reticulum unfolded protein response|ER overload response|ER-associated protein catabolic process|glucose homeostasis|kidney development|negative regulation of neuron apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|polyubiquitinated misfolded protein transport|positive regulation of calcium ion transport|positive regulation of growth|positive regulation of protein ubiquitination|positive regulation of proteolysis|protein stabilization|renal water homeostasis|sensory perception of sound|visual perception dendrite|integral to endoplasmic reticulum membrane activating transcription factor binding|ATPase binding|transporter activity|ubiquitin protein ligase binding central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1) 21 Colorectal(103;0.0512) CTCAGAGGGCATGAAGGTCTA 0.607000 8 317 0 0 1 0 0 RASGRP1 10125 broad.mit.edu 37 15 38811524 38811524 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr15:38811524G>A ENST00000310803.5 - 4 552 c.375C>T c.(373-375)atC>atT p.I125I RASGRP1_ENST00000558164.1_Silent_p.I125I|RASGRP1_ENST00000559830.1_Silent_p.I125I|RASGRP1_ENST00000561180.1_Silent_p.I176I|RASGRP1_ENST00000450598.2_Silent_p.I125I|RASGRP1_ENST00000539159.1_Silent_p.I77I NM_001128602.1|NM_005739.3 NP_001122074.1|NP_005730.2 O95267 GRP1_HUMAN RAS guanyl releasing protein 1 (calcium and DAG-regulated) 125 N-terminal Ras-GEF. cell differentiation|platelet activation|Ras protein signal transduction|regulation of small GTPase mediated signal transduction cytosol|endoplasmic reticulum membrane|Golgi membrane|membrane fraction|plasma membrane calcium ion binding|guanyl-nucleotide exchange factor activity|lipid binding|protein binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 20 all_cancers(109;6.38e-17)|all_epithelial(112;5.51e-15)|Lung NSC(122;2.12e-11)|all_lung(180;5.63e-10)|Melanoma(134;0.0574) GBM - Glioblastoma multiforme(113;1.97e-07)|BRCA - Breast invasive adenocarcinoma(123;0.00248) CAAAATAACAGATCTTCAGGC 0.423000 32 76 0 0 1 0 0 PRAMEF1 65121 broad.mit.edu 37 1 12853460 12853460 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:12853460G>A ENST00000332296.7 + 2 187 c.84G>A c.(82-84)atG>atA p.M28I NM_023013.2 NP_075389.1 O95521 PRAM1_HUMAN PRAME family member 1 28 cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 35 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) TCTCTGCCATGGAGGAGCTGC 0.592000 87 173 0 0 1 0 0 OR2AT4 341152 broad.mit.edu 37 11 74800027 74800027 + Silent SNP G G A rs61897539 TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:74800027G>A ENST00000305159.3 - 1 772 c.732C>T c.(730-732)tcC>tcT p.S244S NM_001005285.1 NP_001005285.1 A6NND4 O2AT4_HUMAN olfactory receptor, family 2, subfamily AT, member 4 244 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(2) 12 AGCTGCAGGTGGAGAAGGCTT 0.562000 29 68 0 0 1 0 0 ZNF780B 163131 broad.mit.edu 37 19 40540443 40540443 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:40540443G>A ENST00000434248.1 - 5 2388 c.2323C>T c.(2323-2325)Cat>Tat p.H775Y ZNF780B_ENST00000221355.6_Missense_Mutation_p.H627Y NM_001005851.2 NP_001005851.1 Q9Y6R6 Z780B_HUMAN zinc finger protein 780B 775 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 23 all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925) TCACCAGTATGAATACTCTGA 0.418000 52 93 0 0 1 0 0 RHBDL2 54933 broad.mit.edu 37 1 39384743 39384743 + Missense_Mutation SNP T T G TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:39384743T>G ENST00000289248.2 - 2 1150 c.142A>C c.(142-144)Att>Ctt p.I48L RP5-864K19.4_ENST00000433671.2_RNA|RHBDL2_ENST00000372985.3_Missense_Mutation_p.I128L|RHBDL2_ENST00000372990.1_Missense_Mutation_p.I48L|RHBDL2_ENST00000540558.1_Missense_Mutation_p.I48L|RHBDL2_ENST00000538156.1_Missense_Mutation_p.I115L Q9NX52 RHBL2_HUMAN rhomboid, veinlet-like 2 (Drosophila) 48 proteolysis integral to membrane|plasma membrane serine-type endopeptidase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3) 8 Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;8.23e-17) TTTGAGACAATCCTGTGGACC 0.507000 55 119 0 0 1 0 0 TMEM161B 153396 broad.mit.edu 37 5 87492246 87492246 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:87492246G>A ENST00000296595.6 - 12 1370 c.1246C>T c.(1246-1248)Cta>Tta p.L416L TMEM161B_ENST00000515293.1_5'UTR|TMEM161B_ENST00000514135.1_Silent_p.L416L|TMEM161B_ENST00000511218.1_Silent_p.L207L|TMEM161B_ENST00000512429.1_Silent_p.L405L|TMEM161B_ENST00000506536.1_Silent_p.V201V NM_153354.3 NP_699185.1 Q8NDZ6 T161B_HUMAN transmembrane protein 161B 416 integral to membrane endometrium(4)|large_intestine(3)|lung(9)|skin(3)|upper_aerodigestive_tract(1) 20 all_cancers(142;0.000275)|Lung NSC(167;0.00901)|all_lung(232;0.0111)|Colorectal(57;0.0959)|Ovarian(174;0.1) OV - Ovarian serous cystadenocarcinoma(54;6.24e-36)|Epithelial(54;6.8e-31)|all cancers(79;1.07e-26) TTGGACAGTAGACTATTATCC 0.348000 5 98 0 0 1 0 0 AKAP11 11215 broad.mit.edu 37 13 42873898 42873898 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr13:42873898C>T ENST00000025301.2 + 8 1191 c.1016C>T c.(1015-1017)cCt>cTt p.P339L NM_016248.3 NP_057332.1 Q9UKA4 AKA11_HUMAN A kinase (PRKA) anchor protein 11 339 intracellular protein kinase cascade microtubule organizing center protein kinase A binding|protein phosphatase 1 binding breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(2) 56 Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114) OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19) CCTAAAATTCCTGTGATGAAA 0.338000 33 61 0 0 1 0 0 MAGEB18 286514 broad.mit.edu 37 X 26157519 26157519 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chrX:26157519G>A ENST00000325250.1 + 2 604 c.417G>A c.(415-417)agG>agA p.R139R NM_173699.3 NP_775970.1 Q96M61 MAGBI_HUMAN melanoma antigen family B, 18 139 MAGE. protein binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(17)|skin(2)|stomach(1)|urinary_tract(2) 33 TTGTTATCAGGAAGGATAAGT 0.423000 5 4 0 0 1 0 0 EPHA6 285220 broad.mit.edu 37 3 96706414 96706414 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:96706414G>A ENST00000389672.5 + 3 729 c.691G>A c.(691-693)Gga>Aga p.G231R EPHA6_ENST00000470610.2_Missense_Mutation_p.G231R|EPHA6_ENST00000542517.1_Missense_Mutation_p.G137R NM_001080448.2 NP_001073917.2 Q9UF33 EPHA6_HUMAN EPH receptor A6 136 integral to plasma membrane ATP binding|ephrin receptor activity p.G137*(2)|p.G231*(1) NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2) 101 TGAGTCCCACGGAATTAAATT 0.398000 85 197 0 0 1 0 0 ST18 9705 broad.mit.edu 37 8 53077734 53077734 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:53077734C>T ENST00000276480.7 - 12 1939 c.1256G>A c.(1255-1257)gGa>gAa p.G419E NM_014682.2 NP_055497.1 O60284 ST18_HUMAN suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein) 419 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 85 Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229) ATGACCCCTTCCTGTGCATCC 0.408000 74 153 0 0 1 0 0 KCNH3 23416 broad.mit.edu 37 12 49948157 49948157 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:49948157G>A ENST00000257981.6 + 11 2216 c.1956G>A c.(1954-1956)cgG>cgA p.R652R NM_012284.1 NP_036416.1 Q9ULD8 KCNH3_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 3 652 regulation of transcription, DNA-dependent integral to membrane two-component sensor activity|voltage-gated potassium channel activity NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 36 TGCCCCGGCGGGAGCAGGTGG 0.637000 16 203 0 0 1 0 0 OR1D2 4991 broad.mit.edu 37 17 2995501 2995501 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:2995501G>A ENST00000331459.1 - 1 789 c.790C>T c.(790-792)Cat>Tat p.H264Y NM_002548.2 NP_002539.2 P34982 OR1D2_HUMAN olfactory receptor, family 1, subfamily D, member 2 264 cellular component movement|chemotaxis|protein import into nucleus, translocation|sensory perception of smell|single fertilization integral to plasma membrane olfactory receptor activity kidney(2)|large_intestine(2)|lung(10)|ovary(1) 15 GAGTAGGTATGGAGGGGCTTT 0.483000 36 84 0 0 1 0 0 KMT2D 8085 broad.mit.edu 37 12 49443573 49443573 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:49443573C>T ENST00000301067.7 - 11 3797 c.3798G>A c.(3796-3798)gaG>gaA p.E1266E NM_003482.3 NP_003473.3 lysine (K)-specific methyltransferase 2D AGTCATCAGTCTCTGGCAGTG 0.627000 59 123 0 0 1 0 0 CAMK1D 57118 broad.mit.edu 37 10 12595237 12595237 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:12595237G>A ENST00000378847.3 + 2 443 c.106G>A c.(106-108)Gaa>Aaa p.E36K CAMK1D_ENST00000487696.1_Intron|CAMK1D_ENST00000378845.1_Missense_Mutation_p.E36K NM_153498.2 NP_705718.1 Q8IU85 KCC1D_HUMAN calcium/calmodulin-dependent protein kinase ID 36 Protein kinase. calcium- and calmodulin-dependent protein kinase complex|cytoplasm|nucleus ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1) 16 GBM - Glioblastoma multiforme(1;3.16e-05) GGCCTTTTCCGAAGTGGTTTT 0.468000 6 196 0 0 1 0 0 TGM7 116179 broad.mit.edu 37 15 43574213 43574213 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr15:43574213G>A ENST00000452443.2 - 9 1184 c.1180C>T c.(1180-1182)Cct>Tct p.P394S NM_052955.2 NP_443187.1 Q96PF1 TGM7_HUMAN transglutaminase 7 394 peptide cross-linking acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(2)|prostate(4)|skin(1) 39 all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;9.14e-07) L-Glutamine(DB00130) TACACAAAAGGGGTGTCATAG 0.582000 5 53 0 0 1 0 0 CSMD1 64478 broad.mit.edu 37 8 3443759 3443759 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:3443759G>A ENST00000602557.1 - 10 1679 c.1124C>T c.(1123-1125)tCa>tTa p.S375L CSMD1_ENST00000602723.1_Missense_Mutation_p.S375L|CSMD1_ENST00000537824.1_Missense_Mutation_p.S374L|CSMD1_ENST00000400186.3_Missense_Mutation_p.S375L|CSMD1_ENST00000539096.1_Missense_Mutation_p.S374L|CSMD1_ENST00000542608.1_Missense_Mutation_p.S374L|CSMD1_ENST00000520002.1_Missense_Mutation_p.S375L Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 375 Sushi 2. integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) GTCCTCACATGAAAACTGTAC 0.408000 7 21 0 0 1 0 0 F2RL2 2151 broad.mit.edu 37 5 75914175 75914175 + Silent SNP A A T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:75914175A>T ENST00000296641.4 - 2 560 c.357T>A c.(355-357)ctT>ctA p.L119L IQGAP2_ENST00000502745.1_Intron|F2RL2_ENST00000504899.1_Silent_p.L97L|IQGAP2_ENST00000274364.6_Intron|IQGAP2_ENST00000396234.3_Intron|IQGAP2_ENST00000379730.3_Intron NM_004101.3 NP_004092.1 O00254 PAR3_HUMAN coagulation factor II (thrombin) receptor-like 2 119 platelet activation extracellular region|integral to plasma membrane phosphatidylinositol phospholipase C activity|protein binding|thrombin receptor activity central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(3) 32 all_lung(232;0.000462)|Lung NSC(167;0.00124)|Prostate(461;0.00955)|Ovarian(174;0.0129) all cancers(79;4.43e-43) TCCTGAAGAAAAGCATCCACA 0.458000 33 77 0 0 1 0 0 TKTL1 8277 broad.mit.edu 37 X 153537696 153537696 + Splice_Site SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chrX:153537696G>A ENST00000369915.3 + 3 441 c.e3-1 TKTL1_ENST00000369912.2_Splice_Site|TKTL1_ENST00000217905.7_Intron NM_001145933.1|NM_012253.3 NP_001139405.1|NP_036385.3 P51854 TKTL1_HUMAN transketolase-like 1 glucose catabolic process|thiamine metabolic process cytoplasm|nucleus metal ion binding|transketolase activity NS(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(5)|prostate(1)|skin(1)|urinary_tract(2) 34 all_cancers(53;5.05e-16)|all_epithelial(53;1.82e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) TTCTCTTACAGAGACTGTCGT 0.557000 200 71 0 0 1 0 0 FRAS1 80144 broad.mit.edu 37 4 79437144 79437144 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:79437144G>A ENST00000264895.6 + 66 10806 c.10366G>A c.(10366-10368)Ggc>Agc p.G3456S NM_025074.6 NP_079350.5 Q86XX4 FRAS1_HUMAN Fraser syndrome 1 3451 cell communication integral to membrane|plasma membrane metal ion binding breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4) 103 CGTCTGTGGGGGCTCTGTAAC 0.527000 17 25 0 0 1 0 0 DDI1 414301 broad.mit.edu 37 11 103908016 103908016 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:103908016G>A ENST00000302259.3 + 1 709 c.466G>A c.(466-468)Gat>Aat p.D156N PDGFD_ENST00000302251.5_Intron|PDGFD_ENST00000393158.2_Intron NM_001001711.2 NP_001001711.1 Q8WTU0 DDI1_HUMAN DNA-damage inducible 1 homolog 1 (S. cerevisiae) 156 proteolysis aspartic-type endopeptidase activity central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(12)|liver(2)|lung(21)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 52 Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164) BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169) CAACCCCCACGATCTGTCCCT 0.637000 34 37 0 0 1 0 0 RELN 5649 broad.mit.edu 37 7 103275927 103275927 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:103275927C>T ENST00000428762.1 - 19 2569 c.2410G>A c.(2410-2412)Ggg>Agg p.G804R RELN_ENST00000424685.2_Missense_Mutation_p.G804R|RELN_ENST00000343529.5_Missense_Mutation_p.G804R NM_005045.3 NP_005036.2 P78509 RELN_HUMAN reelin 804 axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2) 227 COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184) CAAGTTATCCCATTATCATAA 0.433000 40 179 0 0 1 0 0 LOC440040 440040 broad.mit.edu 37 11 49831533 49831533 + RNA SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:49831533C>T ENST00000527477.1 + 0 1758 AGGGAAGAATCAGAATGGCAA 0.453000 28 58 0 0 1 0 0 FLNA 2316 broad.mit.edu 37 X 153588567 153588567 + Missense_Mutation SNP G G A rs28935473 TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chrX:153588567G>A ENST00000422373.1 - 22 3844 c.3596C>T c.(3595-3597)tCg>tTg p.S1199L FLNA_ENST00000369850.3_Missense_Mutation_p.S1199L|FLNA_ENST00000360319.4_Missense_Mutation_p.S1199L|FLNA_ENST00000344736.4_Missense_Mutation_p.S1199L NM_001456.3 NP_001447.2 P21333 FLNA_HUMAN filamin A, alpha 1199 S -> L (in MNS; does not inhibit interaction with MIS18BP1; dbSNP:rs28935473). actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering cell cortex|cytosol|extracellular region|nucleus|plasma membrane actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding breast(6) 6 all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) CCCCGCCTCCGAGCAGATCTC 0.677000 OREG0003593 type=REGULATORY REGION|Gene=FLNA|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 34 43 0 0 1 0 0 DCLK2 166614 broad.mit.edu 37 4 151023850 151023850 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:151023850C>T ENST00000296550.7 + 2 1396 c.642C>T c.(640-642)atC>atT p.I214I DCLK2_ENST00000506325.1_Silent_p.I214I|DCLK2_ENST00000302176.8_Silent_p.I214I NM_001040260.3 NP_001035350.2 Q8N568 DCLK2_HUMAN doublecortin-like kinase 2 214 Doublecortin 2. intracellular signal transduction cytoplasm|cytoskeleton ATP binding|protein serine/threonine kinase activity breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(1) 26 all_hematologic(180;0.151) CCGTGCGGATCCTTCTGAATA 0.423000 25 35 0 0 1 0 0 ABCC9 10060 broad.mit.edu 37 12 22078946 22078946 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:22078946G>A ENST00000261200.4 - 3 335 c.336C>T c.(334-336)ttC>ttT p.F112F ABCC9_ENST00000538350.1_Silent_p.F112F|ABCC9_ENST00000261201.4_Silent_p.F112F|ABCC9_ENST00000345162.2_Silent_p.F112F|ABCC9_ENST00000326684.4_Silent_p.F112F NM_020297.2 NP_064693.2 O60706 ABCC9_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 9 112 defense response to virus|potassium ion import ATP-sensitive potassium channel complex ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5) 118 Adenosine triphosphate(DB00171)|Glibenclamide(DB01016) TAGTGGCAACGAATCCCATCA 0.408000 49 100 0 0 1 0 0 GGT7 2686 broad.mit.edu 37 20 33451155 33451155 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr20:33451155G>A ENST00000336431.5 - 2 410 c.366C>T c.(364-366)acC>acT p.T122T NM_178026.2 NP_821158.2 Q9UJ14 GGT7_HUMAN gamma-glutamyltransferase 7 122 glutathione biosynthetic process integral to membrane acyltransferase activity|gamma-glutamyltransferase activity NS(2)|breast(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2) 20 CCAGCGCCACGGTGACACCGG 0.642000 19 39 0 0 1 0 0 TAS2R9 50835 broad.mit.edu 37 12 10962236 10962236 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:10962236G>A ENST00000240691.2 - 1 531 c.439C>T c.(439-441)Cca>Tca p.P147S NM_023917.2 NP_076406.1 Q9NYW1 TA2R9_HUMAN taste receptor, type 2, member 9 147 sensory perception of taste integral to membrane taste receptor activity endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 TCATTCTTTGGAACACTAATA 0.353000 30 46 0 0 1 0 0 NOL6 65083 broad.mit.edu 37 9 33467706 33467706 + Nonsense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:33467706G>A ENST00000379471.2 - 12 1672 c.1585C>T c.(1585-1587)Cga>Tga p.R529* NOL6_ENST00000455041.2_Nonsense_Mutation_p.R477*|NOL6_ENST00000464829.1_Intron Q9H6R4 NOL6_HUMAN nucleolar protein 6 (RNA-associated) 529 rRNA processing condensed nuclear chromosome|nucleolus RNA binding endometrium(4)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|skin(2) 27 LUSC - Lung squamous cell carcinoma(29;0.00788) GBM - Glioblastoma multiforme(74;0.152) ACTGGGGGTCGAGAGTGAGCC 0.617000 7 83 0 0 1 0 0 LPIN1 23175 broad.mit.edu 37 2 11913768 11913768 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:11913768C>T ENST00000256720.2 + 5 712 c.619C>T c.(619-621)Cca>Tca p.P207S LPIN1_ENST00000425416.2_Missense_Mutation_p.P213S|LPIN1_ENST00000396099.1_Missense_Mutation_p.P213S|LPIN1_ENST00000396098.1_Missense_Mutation_p.P213S|LPIN1_ENST00000449576.2_Missense_Mutation_p.P256S NM_145693.2 NP_663731.1 Q14693 LPIN1_HUMAN lipin 1 207 fatty acid catabolic process|transcription, DNA-dependent|triglyceride biosynthetic process|triglyceride mobilization cytosol|endoplasmic reticulum membrane phosphatidate phosphatase activity autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(15)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 45 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.173) TGATATACCTCCATTCCAAGA 0.378000 39 103 0 0 1 0 0 SEPN1 57190 broad.mit.edu 37 1 26135549 26135549 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:26135549C>T ENST00000361547.2 + 6 835 c.780C>T c.(778-780)caC>caT p.H260H SEPN1_ENST00000374315.1_Silent_p.H226H|SEPN1_ENST00000354177.4_Silent_p.H226H NM_020451.2 NP_065184.2 Q9NZV5 SELN_HUMAN selenoprotein N, 1 260 endoplasmic reticulum membrane|extracellular region protein binding breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 19 Colorectal(325;3.46e-05)|Lung NSC(340;0.00038)|all_lung(284;0.00051)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0505) UCEC - Uterine corpus endometrioid carcinoma (279;0.0421)|OV - Ovarian serous cystadenocarcinoma(117;1.26e-25)|Colorectal(126;3.01e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0143)|READ - Rectum adenocarcinoma(331;0.0649) GCATGTTCCACCCTCGGCCCT 0.652000 10 222 0 0 1 0 0 GRM3 2913 broad.mit.edu 37 7 86468740 86468740 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:86468740C>T ENST00000361669.2 + 4 3009 c.1910C>T c.(1909-1911)tCa>tTa p.S637L GRM3_ENST00000546348.1_Missense_Mutation_p.S229L|GRM3_ENST00000536043.1_Missense_Mutation_p.S509L|GRM3_ENST00000394720.2_Intron|GRM3_ENST00000439827.1_Intron NM_000840.2 NP_000831.2 Q14832 GRM3_HUMAN glutamate receptor, metabotropic 3 637 synaptic transmission integral to plasma membrane NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5) 109 Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142) Acamprosate(DB00659)|Nicotine(DB00184) GCCAAGCCATCACCAGTCATC 0.522000 92 321 0 0 1 0 0 LAMA4 3910 broad.mit.edu 37 6 112462620 112462620 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:112462620G>A ENST00000230538.7 - 21 3150 c.2753C>T c.(2752-2754)cCc>cTc p.P918L LAMA4_ENST00000389463.4_Missense_Mutation_p.P911L|LAMA4_ENST00000424408.2_Missense_Mutation_p.P911L|LAMA4_ENST00000522006.1_Missense_Mutation_p.P911L NM_001105206.2 NP_001098676.2 Q16363 LAMA4_HUMAN laminin, alpha 4 918 Laminin G-like 1. cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex extracellular matrix structural constituent|receptor binding NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8) 100 all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209) all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242) GGAGTCCAGGGGAATCTCCAC 0.408000 36 84 0 0 1 0 0 DHX57 90957 broad.mit.edu 37 2 39088455 39088455 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:39088455G>A ENST00000295373.6 - 5 1223 c.1097C>T c.(1096-1098)cCc>cTc p.P366L DHX57_ENST00000479345.2_5'UTR NM_198963.1 NP_945314.1 Q6P158 DHX57_HUMAN DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57 366 ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 62 all_hematologic(82;0.248) AGCTTGGTAGGGATATTTGTG 0.363000 27 45 0 0 1 0 0 APCS 325 broad.mit.edu 37 1 159558079 159558079 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:159558079G>A ENST00000255040.2 + 2 350 c.253G>A c.(253-255)Gaa>Aaa p.E85K NM_001639.3 NP_001630.1 P02743 SAMP_HUMAN amyloid P component, serum 85 Pentaxin. acute-phase response|chaperone-mediated protein complex assembly|protein folding extracellular space metal ion binding|sugar binding|unfolded protein binding breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(2) 20 all_hematologic(112;0.0429) AGTTTATAAAGAAAGAGTTGG 0.433000 41 139 0 0 1 0 0 IGF2R 3482 broad.mit.edu 37 6 160494892 160494892 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:160494892C>T ENST00000356956.1 + 35 5199 c.5051C>T c.(5050-5052)tCc>tTc p.S1684F NM_000876.2 NP_000867.2 P11717 MPRI_HUMAN insulin-like growth factor 2 receptor 1684 receptor-mediated endocytosis cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 95 Breast(66;0.000777)|Ovarian(120;0.0305) OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05) GATGATGCCTCCGATACCAAC 0.483000 22 60 0 0 1 0 0 CD96 10225 broad.mit.edu 37 3 111304183 111304183 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:111304183C>T ENST00000352690.4 + 5 1005 c.765C>T c.(763-765)atC>atT p.I255I CD96_ENST00000283285.5_Silent_p.I271I|CD96_ENST00000438817.2_Silent_p.I255I NM_005816.4 NP_005807.1 P40200 TACT_HUMAN CD96 molecule 271 cell adhesion|immune response|regulation of immune response integral to plasma membrane central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(4)|liver(2)|lung(14)|skin(5) 35 AACCAGAAATCCCTGTGATTG 0.403000 Opitz Trigonocephaly syndrome 15 52 0 0 1 0 0 KIAA0100 9703 broad.mit.edu 37 17 26961604 26961604 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:26961604G>A ENST00000528896.2 - 16 3075 c.3001C>T c.(3001-3003)Ccc>Tcc p.P1001S KIAA0100_ENST00000544884.1_Missense_Mutation_p.P858S|RP11-192H23.7_ENST00000577814.1_RNA|KIAA0100_ENST00000389003.3_Missense_Mutation_p.P858S NM_014680.3 NP_055495.2 Q14667 K0100_HUMAN KIAA0100 1001 extracellular region breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3) 68 Lung NSC(42;0.00431) CCCTCAGGGGGAAAAGGGCTG 0.498000 51 102 0 0 1 0 0 DPCR1 135656 broad.mit.edu 37 6 30920822 30920822 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:30920822C>T ENST00000462446.1 + 3 4138 c.4110C>T c.(4108-4110)ggC>ggT p.G1370G DPCR1_ENST00000304311.2_Silent_p.G212G|HCG21_ENST00000419481.1_RNA Q3MIW9 DPCR1_HUMAN diffuse panbronchiolitis critical region 1 494 integral to membrane endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|pancreas(1) 10 ATGAGGGTGGCCCCAATTCCT 0.567000 28 65 0 0 1 0 0 OR4M1 441670 broad.mit.edu 37 14 20248664 20248664 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr14:20248664C>T ENST00000315957.4 + 1 264 c.183C>T c.(181-183)ttC>ttT p.F61F NM_001005500.1 NP_001005500.1 Q8NGD0 OR4M1_HUMAN olfactory receptor, family 4, subfamily M, member 1 61 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2) 42 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) CTATGTATTTCCTGTTGGCTA 0.393000 113 245 0 0 1 0 0 SYT11 23208 broad.mit.edu 37 1 155851208 155851208 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:155851208G>A ENST00000368324.4 + 4 1458 c.1205G>A c.(1204-1206)aGt>aAt p.S402N SYT11_ENST00000539162.1_Missense_Mutation_p.S95N NM_152280.4 NP_689493.3 Q9BT88 SYT11_HUMAN synaptotagmin XI 402 cell junction|synaptic vesicle membrane protein binding|transporter activity breast(2)|central_nervous_system(1)|endometrium(1)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 20 Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195) OV - Ovarian serous cystadenocarcinoma(3;0.000162) GGGGCACACAGTGTCACAGCC 0.572000 43 283 0 0 1 0 0 CELSR3 1951 broad.mit.edu 37 3 48680235 48680235 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:48680235G>A ENST00000544264.1 - 31 8784 c.8504C>T c.(8503-8505)tCt>tTt p.S2835F CELSR3_ENST00000164024.4_Missense_Mutation_p.S2830F Q9NYQ7 CELR3_HUMAN cadherin, EGF LAG seven-pass G-type receptor 3 2830 homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity|protein binding NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 83 BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619) ACTGCTCACAGAGGAGACGGT 0.652000 46 88 0 0 1 0 0 AMELX 265 broad.mit.edu 37 X 11316808 11316808 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chrX:11316808C>T ENST00000380712.3 + 6 395 c.327C>T c.(325-327)atC>atT p.I109I ARHGAP6_ENST00000380718.1_Intron|ARHGAP6_ENST00000337414.4_Intron|AMELX_ENST00000380714.3_Silent_p.I95I|ARHGAP6_ENST00000413512.3_Intron|ARHGAP6_ENST00000380736.1_Intron|ARHGAP6_ENST00000380732.3_Intron|AMELX_ENST00000348912.4_Silent_p.I79I NM_182680.1 NP_872621.1 Q99217 AMELX_HUMAN amelogenin, X-linked 95 cell adhesion|cell proliferation|chondrocyte differentiation|enamel mineralization|epithelial to mesenchymal transition|ion homeostasis|odontogenesis of dentine-containing tooth|osteoblast differentiation|positive regulation of collagen biosynthetic process|positive regulation of tooth mineralization|signal transduction proteinaceous extracellular matrix cell surface binding|growth factor activity|hydroxyapatite binding|identical protein binding|structural constituent of tooth enamel endometrium(3)|kidney(2)|large_intestine(1)|lung(9) 15 AGCCCGTGATCCCCCAGCAAC 0.627000 69 138 0 0 1 0 0 TAS2R8 50836 broad.mit.edu 37 12 10959222 10959222 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:10959222G>A ENST00000240615.2 - 1 670 c.358C>T c.(358-360)Ctc>Ttc p.L120F NM_023918.1 NP_076407.1 Q9NYW2 TA2R8_HUMAN taste receptor, type 2, member 8 120 sensory perception of taste integral to membrane taste receptor activity endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 14 TTCAGCCAGAGAAAAAGTGGA 0.428000 24 51 0 0 1 0 0 DNAH9 1770 broad.mit.edu 37 17 11687685 11687685 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:11687685C>T ENST00000262442.3 + 41 7958 c.7890C>T c.(7888-7890)atC>atT p.I2630I DNAH9_ENST00000454412.2_Silent_p.I2630I NM_001372.3 NP_001363.2 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 2630 AAA 3 (By similarity). cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4) 290 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) ACAGCATCATCCTCACTCAGC 0.542000 89 209 0 0 1 0 0 EFCAB12 90288 broad.mit.edu 37 3 129121422 129121422 + Splice_Site SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:129121422C>T ENST00000505956.1 - 8 1566 c.1403_splice c.e8-1 p.K468_splice EFCAB12_ENST00000326085.3_Splice_Site NM_207307.1 NP_997190.1 EF-hand calcium binding domain 12 TTGGCGTTTTCCTAGTGGAGA 0.498000 9 30 0 0 1 0 0 SARS 6301 broad.mit.edu 37 1 109772072 109772072 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:109772072C>T ENST00000369923.4 + 4 336 c.325C>T c.(325-327)Ctc>Ttc p.L109F SARS_ENST00000234677.2_Missense_Mutation_p.L109F P49591 SYSC_HUMAN seryl-tRNA synthetase 109 seryl-tRNA aminoacylation|tRNA processing cytosol ATP binding|protein binding|RNA binding|serine-tRNA ligase activity central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1) 17 all_epithelial(167;7.64e-05)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244) Colorectal(144;0.0301)|Lung(183;0.0677)|COAD - Colon adenocarcinoma(174;0.116)|Epithelial(280;0.233) L-Serine(DB00133) AGTCCGACTCCTCATTGATGA 0.502000 118 273 0 0 1 0 0 ASXL3 80816 broad.mit.edu 37 18 31324651 31324651 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr18:31324651G>A ENST00000269197.5 + 12 4839 c.4839G>A c.(4837-4839)ggG>ggA p.G1613G NM_030632.1 NP_085135.1 Q9C0F0 ASXL3_HUMAN additional sex combs like 3 (Drosophila) 1613 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1) 43 ATGATGATGGGATGAGGAGCA 0.463000 OREG0024911 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 6 14 0 0 1 0 0 SOHLH2 54937 broad.mit.edu 37 13 36748950 36748950 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr13:36748950C>T ENST00000379881.3 - 7 786 c.698G>A c.(697-699)gGg>gAg p.G233E SOHLH2_ENST00000554962.1_Missense_Mutation_p.G310E|CCDC169-SOHLH2_ENST00000511166.1_Missense_Mutation_p.G310E NM_017826.2 NP_060296.2 spermatogenesis and oogenesis specific basic helix-loop-helix 2 autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184) KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169) all cancers(112;4.63e-08)|Epithelial(112;2.67e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00272)|BRCA - Breast invasive adenocarcinoma(63;0.00685)|GBM - Glioblastoma multiforme(144;0.0273) ATTCTTTCTCCCTTTTACATA 0.413000 25 73 0 0 1 0 0 NMNAT2 23057 broad.mit.edu 37 1 183253852 183253852 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:183253852G>A ENST00000287713.6 - 6 856 c.522C>T c.(520-522)acC>acT p.T174T NMNAT2_ENST00000473046.1_5'UTR|NMNAT2_ENST00000294868.4_Silent_p.T169T NM_015039.3 NP_055854.1 Q9BZQ4 NMNA2_HUMAN nicotinamide nucleotide adenylyltransferase 2 174 water-soluble vitamin metabolic process Golgi membrane|nucleus ATP binding|nicotinamide-nucleotide adenylyltransferase activity|nicotinate-nucleotide adenylyltransferase activity endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(7)|skin(2) 18 CACCTACAAAGGTGAAACGCT 0.542000 85 90 0 0 1 0 0 LINC00202-2 731789 broad.mit.edu 37 10 26939679 26939679 + RNA SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:26939679G>A ENST00000544033.1 + 0 5612 NR_026794.1 ctgggcaacagaacaagggct 0.522000 6 19 0 0 1 0 0 SUGP2 10147 broad.mit.edu 37 19 19135714 19135714 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:19135714G>A ENST00000601879.1 - 3 1740 c.1443C>T c.(1441-1443)gcC>gcT p.A481A SUGP2_ENST00000600377.1_Silent_p.A495A|SUGP2_ENST00000337018.6_Silent_p.A481A|SUGP2_ENST00000456085.2_Silent_p.A250A|SUGP2_ENST00000452918.2_Silent_p.A481A Q8IX01 SUGP2_HUMAN SURP and G patch domain containing 2 481 mRNA processing|RNA splicing nucleus RNA binding NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 43 GTCCCAAAAGGGCCAAAGACT 0.517000 107 162 0 0 1 0 0 ZNF639 51193 broad.mit.edu 37 3 179052190 179052190 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:179052190C>T ENST00000326361.3 + 7 1883 c.1438C>T c.(1438-1440)Cca>Tca p.P480S ZNF639_ENST00000496856.1_Missense_Mutation_p.P480S|ZNF639_ENST00000484866.1_Missense_Mutation_p.P480S NM_016331.1 NP_057415.1 Q9UID6 ZN639_HUMAN zinc finger protein 639 480 initiation of viral infection|negative regulation by host of viral transcription|negative regulation of transcription, DNA-dependent|positive regulation by host of viral transcription|positive regulation of cell growth|positive regulation of transcription, DNA-dependent nucleus protein self-association|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(10)|urinary_tract(1) 16 all_cancers(143;7.9e-17)|Ovarian(172;0.0172)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0923) AAGTCACCTTCCAGTCCATGA 0.313000 22 46 0 0 1 0 0 CD93 22918 broad.mit.edu 37 20 23065045 23065045 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr20:23065045G>A ENST00000246006.4 - 1 1932 c.1785C>T c.(1783-1785)ctC>ctT p.L595L NM_012072.3 NP_036204.2 Q9NPY3 C1QR1_HUMAN CD93 molecule 595 cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis plasma membrane calcium ion binding|complement component C1q binding|receptor activity|sugar binding NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118) GGGCCAGCAGGAGTAGGATGG 0.572000 98 188 0 0 1 0 0 ZFC3H1 196441 broad.mit.edu 37 12 72008402 72008402 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:72008402C>T ENST00000378743.3 - 30 5797 c.5439G>A c.(5437-5439)gtG>gtA p.V1813V NM_144982.4 NP_659419.3 O60293 ZC3H1_HUMAN zinc finger, C3H1-type containing 1813 RNA processing intracellular metal ion binding NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 AACATCTATTCACTAAATCAG 0.343000 75 133 0 0 1 0 0 CNTNAP2 26047 broad.mit.edu 37 7 147926804 147926804 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:147926804G>A ENST00000361727.3 + 20 3830 c.3314G>A c.(3313-3315)aGg>aAg p.R1105K CNTNAP2_ENST00000538075.1_Missense_Mutation_p.R164K NM_014141.5 NP_054860.1 Q9UHC6 CNTP2_HUMAN contactin associated protein-like 2 1105 Laminin G-like 4. behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex receptor binding NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3) 188 Melanoma(164;0.153) all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794) OV - Ovarian serous cystadenocarcinoma(82;0.0319) GTAGACCACAGGAACATGGCC 0.418000 HNSCC(39;0.1) 29 101 0 0 1 0 0 CEP63 80254 broad.mit.edu 37 3 134277994 134277994 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:134277994C>T ENST00000337090.3 + 14 1849 c.1676C>T c.(1675-1677)cCa>cTa p.P559L CEP63_ENST00000332047.5_Intron|CEP63_ENST00000354446.3_Intron|CEP63_ENST00000606977.1_Missense_Mutation_p.P559L|CEP63_ENST00000383229.3_Intron|CEP63_ENST00000513612.2_Missense_Mutation_p.P559L Q96MT8 CEP63_HUMAN centrosomal protein 63kDa 559 cell division|DNA damage checkpoint|G2/M transition of mitotic cell cycle|mitosis|signal transduction in response to DNA damage|spindle assembly centrosome|cytosol|spindle pole protein binding kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 27 CCATCCAGGCCAACCCATGGC 0.378000 7 177 0 0 1 0 0 POSTN 10631 broad.mit.edu 37 13 38171377 38171377 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr13:38171377C>T ENST00000379747.4 - 2 279 c.162G>A c.(160-162)aaG>aaA p.K54K POSTN_ENST00000379749.4_Silent_p.K54K|POSTN_ENST00000541481.1_Silent_p.K54K|POSTN_ENST00000379743.4_Silent_p.K54K|POSTN_ENST00000541179.1_Silent_p.K54K|POSTN_ENST00000379742.4_Silent_p.K54K NM_006475.2 NP_006466.2 Q15063 POSTN_HUMAN periostin, osteoblast specific factor 54 EMI. cell adhesion|skeletal system development proteinaceous extracellular matrix heparin binding cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 59 Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743) all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154) TGAAGTATTTCTTTTTGGTGC 0.353000 24 59 0 0 1 0 0 TSHZ2 128553 broad.mit.edu 37 20 51872435 51872435 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr20:51872435C>T ENST00000371497.5 + 2 3325 c.2438C>T c.(2437-2439)tCc>tTc p.S813F TSHZ2_ENST00000329613.6_Missense_Mutation_p.S810F|TSHZ2_ENST00000603338.2_Missense_Mutation_p.S810F NM_001193421.1|NM_173485.5 NP_001180350.1|NP_775756.3 Q9NRE2 TSH2_HUMAN teashirt zinc finger homeobox 2 813 multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 84 STAD - Stomach adenocarcinoma(23;0.1) CCAGCCTCCTCCTCCAGGGTC 0.552000 40 103 0 0 1 0 0 STAB1 23166 broad.mit.edu 37 3 52540776 52540776 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:52540776G>A ENST00000321725.6 + 18 1975 c.1899G>A c.(1897-1899)gtG>gtA p.V633V NM_015136.2 NP_055951.2 Q9NY15 STAB1_HUMAN stabilin 1 633 FAS1 2. cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis integral to plasma membrane bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3) 76 BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482) CCAATGGTGTGATCCACATGC 0.667000 25 75 0 0 1 0 0 SLC7A9 11136 broad.mit.edu 37 19 33333124 33333124 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:33333124C>T ENST00000023064.4 - 11 1365 c.1174G>A c.(1174-1176)Gga>Aga p.G392R SLC7A9_ENST00000590341.1_Missense_Mutation_p.G392R|SLC7A9_ENST00000587772.1_Missense_Mutation_p.G392R NM_001126335.1|NM_001243036.1|NM_014270.4 NP_001119807.1|NP_001229965.1|NP_055085.1 P82251 BAT1_HUMAN solute carrier family 7 (amino acid transporter light chain, bo,+ system), member 9 392 blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly integral to plasma membrane L-cystine transmembrane transporter activity|neutral amino acid transmembrane transporter activity|peptide antigen binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 32 Esophageal squamous(110;0.137) L-Cystine(DB00138) ACGATGAGTCCTAGAATCGTC 0.428000 26 75 0 0 1 0 0 DGAT2 84649 broad.mit.edu 37 11 75495781 75495781 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:75495781C>T ENST00000228027.7 + 2 500 c.240C>T c.(238-240)ttC>ttT p.F80F DGAT2_ENST00000376262.3_Intron NM_032564.4 NP_115953.2 Q96PD7 DGAT2_HUMAN diacylglycerol O-acyltransferase 2 80 glycerol metabolic process|triglyceride biosynthetic process endoplasmic reticulum membrane|integral to membrane diacylglycerol O-acyltransferase activity endometrium(3)|large_intestine(5)|lung(5)|prostate(2)|skin(2) 17 Ovarian(111;0.103) TCCTGTCCTTCCTTGTACTGG 0.582000 65 119 0 0 1 0 0 SEL1L3 23231 broad.mit.edu 37 4 25849205 25849205 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:25849205C>T ENST00000399878.3 - 2 566 c.444G>A c.(442-444)gtG>gtA p.V148V SEL1L3_ENST00000513364.1_Intron|SEL1L3_ENST00000264868.5_Silent_p.V113V|SEL1L3_ENST00000502949.1_5'UTR NM_015187.3 NP_056002.2 Q68CR1 SE1L3_HUMAN sel-1 suppressor of lin-12-like 3 (C. elegans) 148 integral to membrane binding breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2) 14 TTGGAAATTTCACATGTACTA 0.388000 28 47 0 0 1 0 0 PROCR 10544 broad.mit.edu 37 20 33764602 33764602 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr20:33764602G>A ENST00000216968.4 + 4 785 c.703G>A c.(703-705)Gga>Aga p.G235R EDEM2_ENST00000540582.1_Intron NM_006404.3 NP_006395.2 Q9UNN8 EPCR_HUMAN protein C receptor, endothelial 235 antigen processing and presentation|blood coagulation|immune response integral to plasma membrane|MHC class I protein complex receptor activity breast(1)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1) 10 BRCA - Breast invasive adenocarcinoma(18;0.0152) Drotrecogin alfa(DB00055) GTGCACAGGTGGACGGCGATG 0.567000 6 43 0 0 1 0 0 ZNF831 128611 broad.mit.edu 37 20 57771048 57771048 + Missense_Mutation SNP T T G TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr20:57771048T>G ENST00000371030.2 + 2 3863 c.3863T>G c.(3862-3864)aTc>aGc p.I1288S NM_178457.1 NP_848552.1 Q5JPB2 ZN831_HUMAN zinc finger protein 831 1288 intracellular nucleic acid binding|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3) 125 all_lung(29;0.0085) AAACTGAAGATCAACCCTAAA 0.493000 63 136 0 0 1 0 0 RBM26 64062 broad.mit.edu 37 13 79945269 79945269 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr13:79945269G>A ENST00000438737.2 - 5 885 c.445C>T c.(445-447)Cgt>Tgt p.R149C RBM26_ENST00000267229.7_Missense_Mutation_p.R149C|RBM26_ENST00000438724.1_Missense_Mutation_p.R149C Q5T8P6 RBM26_HUMAN RNA binding motif protein 26 149 Arg-rich. mRNA processing nucleotide binding|protein binding|RNA binding|zinc ion binding NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 33 Acute lymphoblastic leukemia(28;0.0279) GBM - Glioblastoma multiforme(99;0.0188) TTGCGAGAACGATCATCTTTT 0.383000 6 78 0 0 1 0 0 HOXB8 3218 broad.mit.edu 37 17 46691829 46691829 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:46691829C>T ENST00000239144.4 - 1 472 c.238G>A c.(238-240)Ggg>Agg p.G80R HOXB8_ENST00000576562.1_Missense_Mutation_p.G80R|HOXB7_ENST00000567101.1_Intron NM_024016.3 NP_076921.1 P17481 HXB8_HUMAN homeobox B8 80 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity large_intestine(1)|lung(8)|urinary_tract(2) 11 CCGGGGTCCCCGTGGCACGCC 0.647000 32 81 0 0 1 0 0 CADPS 8618 broad.mit.edu 37 3 62467434 62467434 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:62467434G>A ENST00000383710.4 - 22 3486 c.3137C>T c.(3136-3138)tCg>tTg p.S1046L CADPS_ENST00000357948.3_Intron|CADPS_ENST00000283269.9_Intron NM_003716.3 NP_003707.2 Q9ULU8 CAPS1_HUMAN Ca++-dependent secretion activator 1046 Interaction with DRD2.|MHD1. exocytosis|protein transport cell junction|cytoplasmic vesicle membrane|cytosol|synapse lipid binding|metal ion binding breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2) 92 Lung SC(41;0.0452) BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334) TGACGGTGCCGAAAAAGTAGG 0.413000 63 110 0 0 1 0 0 MUC4 4585 broad.mit.edu 37 3 195517753 195517753 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:195517753C>T ENST00000463781.3 - 2 1157 c.698G>A c.(697-699)gGg>gAg p.G233E MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.G233E|MUC4_ENST00000346145.4_Intron NM_018406.6 NP_060876.5 Q99102 MUC4_HUMAN mucin 4, cell surface associated 238 cell-matrix adhesion integral to plasma membrane|proteinaceous extracellular matrix ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;2.37e-05) AGAAACAGTCCCTGTCACATT 0.473000 19 197 0 0 1 0 0 LRRK2 120892 broad.mit.edu 37 12 40631814 40631814 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:40631814C>T ENST00000298910.7 + 5 538 c.480C>T c.(478-480)ttC>ttT p.F160F LRRK2_ENST00000343742.2_Silent_p.F160F NM_198578.3 NP_940980.3 Q5S007 LRRK2_HUMAN leucine-rich repeat kinase 2 160 activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb external side of mitochondrial outer membrane ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2) 181 all_cancers(12;0.00108)|Breast(8;0.218) Lung NSC(34;0.0942)|all_lung(34;0.11) GTGATATTTTCATGTTAATTT 0.333000 36 66 0 0 1 0 0 GRIP1 23426 broad.mit.edu 37 12 66747244 66747244 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:66747244C>T ENST00000359742.4 - 24 3352 c.3112G>A c.(3112-3114)Ggg>Agg p.G1038R GRIP1_ENST00000398016.3_Missense_Mutation_p.G986R|GRIP1_ENST00000286445.7_Missense_Mutation_p.G1023R Q9Y3R0 GRIP1_HUMAN glutamate receptor interacting protein 1 1038 PDZ 7. androgen receptor signaling pathway|intracellular signal transduction|positive regulation of transcription, DNA-dependent|synaptic transmission cell junction|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|postsynaptic membrane androgen receptor binding|beta-catenin binding|protein C-terminus binding|receptor signaling complex scaffold activity|transcription coactivator activity NS(3)|breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(19)|ovary(2)|prostate(2)|skin(1) 50 GBM - Glioblastoma multiforme(2;0.00069) GBM - Glioblastoma multiforme(28;0.0933) TCTCCTGGCCCAGCTGGGCGA 0.473000 73 158 0 0 1 0 0 AGO4 192670 broad.mit.edu 37 1 36290969 36290969 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:36290969C>T ENST00000373210.3 + 4 607 c.362C>T c.(361-363)tCt>tTt p.S121F NM_017629.3 NP_060099.2 argonaute RISC catalytic component 4 TTTAAAGTGTCTGTTCAGTGG 0.413000 62 151 0 0 1 0 0 PIP5K1B 8395 broad.mit.edu 37 9 71532544 71532544 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:71532544G>A ENST00000265382.3 + 9 1157 c.852G>A c.(850-852)gaG>gaA p.E284E PIP5K1B_ENST00000541509.1_Silent_p.E284E NM_003558.2 NP_003549.1 O14986 PI51B_HUMAN phosphatidylinositol-4-phosphate 5-kinase, type I, beta 284 PIPK. endomembrane system|membrane|uropod 1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|protein binding breast(1)|large_intestine(2)|stomach(1) 4 Lung(182;0.133) AAGAGAAAGAGGAGGAGACCC 0.463000 132 229 0 0 1 0 0 XIRP2 129446 broad.mit.edu 37 2 168114499 168114499 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:168114499C>T ENST00000409728.1 + 11 1631 c.1542C>T c.(1540-1542)aaC>aaT p.N514N XIRP2_ENST00000409195.1_3'UTR|XIRP2_ENST00000295237.9_3'UTR|XIRP2_ENST00000409605.1_Silent_p.N259N|XIRP2_ENST00000409756.2_Silent_p.N481N|XIRP2_ENST00000420519.1_Silent_p.N514N|XIRP2_ENST00000409043.1_Silent_p.N481N|XIRP2_ENST00000409273.1_3'UTR NM_001199143.1 NP_001186072.1 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 0 actin cytoskeleton organization cell junction actin binding NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7) 315 ACTGCAAAAACCAAAGCAGAT 0.333000 30 70 0 0 1 0 0 SLC22A16 85413 broad.mit.edu 37 6 110763500 110763500 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:110763500G>A ENST00000368919.3 - 4 1196 c.1130C>T c.(1129-1131)tCc>tTc p.S377F SLC22A16_ENST00000330550.4_Missense_Mutation_p.S343F|SLC22A16_ENST00000439654.1_Missense_Mutation_p.S377F NM_033125.3 NP_149116.2 Q86VW1 S22AG_HUMAN solute carrier family 22 (organic cation/carnitine transporter), member 16 377 acid secretion|cell differentiation|multicellular organismal development|single fertilization|sperm motility|spermatogenesis integral to membrane carnitine transporter activity breast(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 34 all_cancers(87;0.00221)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0485)|Colorectal(196;0.101) OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.0921)|all cancers(137;0.115) AGAATTCAAGGAAAACGAGTA 0.373000 58 27 0 0 1 0 0 SLCO1B3 28234 broad.mit.edu 37 12 21028289 21028289 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:21028289C>T ENST00000381545.3 + 9 1067 c.848C>T c.(847-849)cCa>cTa p.P283L LST3_ENST00000381541.3_Intron|LST3_ENST00000540229.1_Missense_Mutation_p.P283L|SLCO1B7_ENST00000554957.1_Intron|SLCO1B3_ENST00000553473.1_Missense_Mutation_p.P283L|SLCO1B3_ENST00000261196.2_Missense_Mutation_p.P283L NM_019844.3 NP_062818.1 Q9NPD5 SO1B3_HUMAN solute carrier organic anion transporter family, member 1B3 283 bile acid metabolic process|sodium-independent organic anion transport basolateral plasma membrane|cytoplasm|integral to plasma membrane bile acid transmembrane transporter activity|organic anion transmembrane transporter activity breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2) 63 Esophageal squamous(101;0.149) CCGAAAAATCCAAATAAACCA 0.353000 25 77 0 0 1 0 0 DLEC1 9940 broad.mit.edu 37 3 38138070 38138070 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:38138070G>A ENST00000308059.6 + 15 2203 c.2182G>A c.(2182-2184)Gag>Aag p.E728K DLEC1_ENST00000452631.2_Missense_Mutation_p.E728K|DLEC1_ENST00000346219.3_Missense_Mutation_p.E728K Q9Y238 DLEC1_HUMAN deleted in lung and esophageal cancer 1 728 negative regulation of cell proliferation cytoplasm NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 51 KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827) TTCAGAAGCGGAGAGCCTGGG 0.532000 52 95 0 0 1 0 0 RP11-337C18.8 0 broad.mit.edu 37 1 146650172 146650172 + RNA SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:146650172C>T ENST00000607149.1 + 0 350 TAGGTTTTTTCGATGATTCAT 0.438000 9 196 0 0 1 0 0 BCLAF1 9774 broad.mit.edu 37 6 136599345 136599345 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:136599345G>A ENST00000531224.1 - 4 926 c.674C>T c.(673-675)tCa>tTa p.S225L BCLAF1_ENST00000527536.1_Missense_Mutation_p.S225L|BCLAF1_ENST00000530767.1_Missense_Mutation_p.S225L|BCLAF1_ENST00000392348.2_Missense_Mutation_p.S223L|BCLAF1_ENST00000527759.1_Missense_Mutation_p.S223L|BCLAF1_ENST00000353331.4_Missense_Mutation_p.S223L NM_001077441.1|NM_014739.2 NP_001070909.1|NP_055554.1 Q9NYF8 BCLF1_HUMAN BCL2-associated transcription factor 1 225 induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus DNA binding|protein binding haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1) 9 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331) ACTATGGGGTGATCTAGGACT 0.438000 36 208 0 0 1 0 0 PIK3C2G 5288 broad.mit.edu 37 12 18691240 18691240 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:18691240G>A ENST00000433979.1 + 24 3467 c.3351G>A c.(3349-3351)ctG>ctA p.L1117L PIK3C2G_ENST00000538779.1_Silent_p.L1158L|PIK3C2G_ENST00000266497.5_Silent_p.L1117L NM_004570.4 NP_004561.3 O75747 P3C2G_HUMAN phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma 1117 PI3K/PI4K. cell communication|phosphatidylinositol-mediated signaling membrane|phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1) 66 Hepatocellular(102;0.194) TGAACCTGCTGGAAATGGTAA 0.388000 28 65 0 0 1 0 0 WBP11P1 441818 broad.mit.edu 37 18 30091887 30091887 + RNA SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr18:30091887G>A ENST00000567636.1 + 0 262 NR_003558.1 GACCAAGCCCGAAAGGAAGCC 0.413000 11 99 0 0 1 0 0 FYB 2533 broad.mit.edu 37 5 39202648 39202648 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:39202648G>A ENST00000351578.6 - 2 605 c.415C>T c.(415-417)Ctt>Ttt p.L139F FYB_ENST00000505428.1_Missense_Mutation_p.L139F|FYB_ENST00000512982.1_Missense_Mutation_p.L139F|FYB_ENST00000515010.1_Missense_Mutation_p.L139F|FYB_ENST00000540520.1_Missense_Mutation_p.L149F NM_199335.3 NP_955367.1 O15117 FYB_HUMAN FYN binding protein 139 cell junction assembly|immune response|intracellular protein kinase cascade|NLS-bearing substrate import into nucleus|protein phosphorylation|T cell receptor signaling pathway cytosol|nucleus protein binding endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1) 45 all_lung(31;0.000343) Epithelial(62;0.235) ACACTGTGAAGAGATGGCTTG 0.483000 7 254 0 0 1 0 0 NACA2 342538 broad.mit.edu 37 17 59668242 59668242 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:59668242C>T ENST00000521764.1 - 1 321 c.300G>A c.(298-300)aaG>aaA p.K100K NM_199290.3 NP_954984.1 Q9H009 NACA2_HUMAN nascent polypeptide-associated complex alpha subunit 2 100 NAC-A/B. protein transport cytoplasm|nucleus large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 12 all_epithelial(1;3.12e-14) AGAGGATATTCTTAGATTTCC 0.448000 134 386 0 0 1 0 0 PLAC8L1 153770 broad.mit.edu 37 5 145477749 145477749 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:145477749G>A ENST00000311450.4 - 2 283 c.226C>T c.(226-228)Ctc>Ttc p.L76F NM_001029869.1 NP_001025040.1 A1L4L8 PL8L1_HUMAN PLAC8-like 1 76 autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|pancreas(1)|prostate(1)|stomach(2) 10 KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) ACACTGAAGAGACCGGTGCTC 0.502000 4 109 0 0 1 0 0 ZNF679 168417 broad.mit.edu 37 7 63726517 63726517 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:63726517C>T ENST00000421025.1 + 5 775 c.506C>T c.(505-507)tCa>tTa p.S169L ZNF679_ENST00000255746.4_Missense_Mutation_p.S169L NM_001159524.1|NM_153363.2 NP_001152996.1|NP_699194.2 Q8IYX0 ZN679_HUMAN zinc finger protein 679 169 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|kidney(3)|lung(11)|skin(1)|stomach(1) 18 GGCAAATTTTCAAATTCCAAT 0.313000 10 38 0 0 1 0 0 ALMS1 7840 broad.mit.edu 37 2 73826614 73826614 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:73826614G>A ENST00000264448.6 + 17 11742 c.11631G>A c.(11629-11631)caG>caA p.Q3877Q ALMS1_ENST00000409009.1_Silent_p.Q3835Q NM_015120.4 NP_055935.4 Q8TCU4 ALMS1_HUMAN Alstrom syndrome 1 3877 G2/M transition of mitotic cell cycle centrosome|cilium|cytosol|microtubule basal body|spindle pole breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 147 GCAACAAGCAGAATGTACACA 0.338000 77 158 0 0 1 0 0 ALDH1L1 10840 broad.mit.edu 37 3 125831639 125831639 + Missense_Mutation SNP A A T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:125831639A>T ENST00000393434.2 - 19 2516 c.2167T>A c.(2167-2169)Ttc>Atc p.F723I ALDH1L1_ENST00000472186.1_Missense_Mutation_p.F723I|ALDH1L1_ENST00000452905.2_Missense_Mutation_p.F622I|ALDH1L1_ENST00000273450.3_Missense_Mutation_p.F733I|ALDH1L1_ENST00000393431.2_3'UTR NM_012190.3 NP_036322.2 O75891 AL1L1_HUMAN aldehyde dehydrogenase 1 family, member L1 723 Aldehyde dehydrogenase. 10-formyltetrahydrofolate catabolic process|biosynthetic process acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 52 GBM - Glioblastoma multiforme(114;0.0462) Tetrahydrofolic acid(DB00116) CTCCGCACGAACTCATCATGA 0.572000 9 142 0 0 1 0 0 WDR16 146845 broad.mit.edu 37 17 9489256 9489256 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:9489256C>T ENST00000352665.5 + 2 306 c.237C>T c.(235-237)atC>atT p.I79I WDR16_ENST00000396219.3_Intron|WDR16_ENST00000299764.5_Silent_p.I89I NM_145054.4 NP_659491.4 Q8N1V2 WDR16_HUMAN WD repeat domain 16 79 cytoplasm|intracellular membrane-bounded organelle protein binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 31 GAGAGTACATCGCCTCCGGAC 0.483000 64 139 0 0 1 0 0 FAM71A 149647 broad.mit.edu 37 1 212799680 212799680 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:212799680G>A ENST00000294829.3 + 1 1892 c.1461G>A c.(1459-1461)agG>agA p.R487R RP11-338C15.5_ENST00000427949.1_RNA NM_153606.3 NP_705834.2 Q8IYT1 FA71A_HUMAN family with sequence similarity 71, member A 487 breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(7)|liver(1)|lung(12)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 OV - Ovarian serous cystadenocarcinoma(81;0.00631)|all cancers(67;0.00981)|GBM - Glioblastoma multiforme(131;0.0715)|Epithelial(68;0.094) GCAGGCACAGGGACTCGCATA 0.552000 34 137 0 0 1 0 0 MANEAL 149175 broad.mit.edu 37 1 38261496 38261496 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:38261496C>T ENST00000373045.6 + 2 1019 c.638C>T c.(637-639)aCc>aTc p.T213I MANEAL_ENST00000397631.3_Missense_Mutation_p.T213I|MANEAL_ENST00000329006.5_Missense_Mutation_p.P17S|MANEAL_ENST00000525897.1_Missense_Mutation_p.T19I NM_001113482.1 NP_001106954.1 Q5VSG8 MANEL_HUMAN mannosidase, endo-alpha-like 213 Golgi membrane|integral to membrane hydrolase activity endometrium(1)|large_intestine(1)|liver(1)|lung(1)|prostate(3) 7 Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197) Myeloproliferative disorder(586;0.0255) ATTCTGGACACCGCCCATCAG 0.602000 38 115 0 0 1 0 0 LPA 4018 broad.mit.edu 37 6 161021986 161021986 + Silent SNP A A G TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:161021986A>G ENST00000447678.1 - 20 3210 c.3090T>C c.(3088-3090)gtT>gtC p.V1030V LPA_ENST00000316300.5_Silent_p.V1030V NM_005577.2 NP_005568.2 P08519 APOA_HUMAN lipoprotein, Lp(a) 3538 Kringle 9. blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis plasma lipoprotein particle apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1) 107 Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965) OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06) Aminocaproic Acid(DB00513) GAGCCAGAATAACATTCGGAG 0.498000 6 94 0 0 1 0 0 ZNF211 10520 broad.mit.edu 37 19 58146118 58146118 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:58146118C>T ENST00000544273.1 + 4 575 c.248C>T c.(247-249)tCc>tTc p.S83F ZNF211_ENST00000420680.1_Missense_Mutation_p.S75F|ZNF211_ENST00000391703.3_Missense_Mutation_p.S10F|ZNF211_ENST00000541801.1_Missense_Mutation_p.S10F|ZNF211_ENST00000240731.4_Missense_Mutation_p.S84F|ZNF211_ENST00000254182.7_Missense_Mutation_p.S10F|ZNF211_ENST00000347302.3_Missense_Mutation_p.S71F|ZNF211_ENST00000299871.5_Missense_Mutation_p.S84F Q13398 ZN211_HUMAN zinc finger protein 211 71 KRAB. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.S84F(1) breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) CTTACGTCCTCCCTGGGTAAG 0.527000 44 98 0 0 1 0 0 OR4C3 256144 broad.mit.edu 37 11 48346788 48346788 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:48346788C>T ENST00000319856.4 + 1 317 c.296C>T c.(295-297)tCt>tTt p.S99F NM_001004702.1 NP_001004702.1 Q8NH37 OR4C3_HUMAN olfactory receptor, family 4, subfamily C, member 3 72 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1) 32 ACCTTTTATTCTTCTTCTATG 0.463000 21 239 0 0 1 0 0 HTR3E 285242 broad.mit.edu 37 3 183822585 183822585 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:183822585G>A ENST00000415389.2 + 5 866 c.400G>A c.(400-402)Gat>Aat p.D134N HTR3E_ENST00000436361.2_Missense_Mutation_p.D134N|HTR3E_ENST00000425359.2_Missense_Mutation_p.D119N|HTR3E_ENST00000440596.2_Missense_Mutation_p.D160N|HTR3E-AS1_ENST00000431427.1_RNA|HTR3E_ENST00000335304.2_Missense_Mutation_p.D149N NM_001256613.1|NM_198313.2 NP_001243542.1|NP_938055.1 A5X5Y0 5HT3E_HUMAN 5-hydroxytryptamine (serotonin) receptor 3E, ionotropic 134 integral to membrane|plasma membrane|postsynaptic membrane extracellular ligand-gated ion channel activity|receptor activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 40 all_cancers(143;1.46e-10)|Ovarian(172;0.0303) Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22) CATGGATGTGGATAAGACCCC 0.423000 51 100 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179470324 179470324 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:179470324C>T ENST00000589042.1 - 279 53922 c.53698G>A c.(53698-53700)Gaa>Aaa p.E17900K TTN_ENST00000359218.5_Missense_Mutation_p.E8960K|TTN_ENST00000591111.1_Missense_Mutation_p.E16259K|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E15332K|TTN_ENST00000460472.2_Missense_Mutation_p.E8835K|TTN_ENST00000342175.6_Missense_Mutation_p.E9027K|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589907.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 16259 Fibronectin type-III 29. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) CGCCGTTTTTCAATGATATAT 0.438000 64 113 0 0 1 0 0 ACCS 84680 broad.mit.edu 37 11 44100268 44100268 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:44100268C>T ENST00000263776.8 + 9 1201 c.767C>T c.(766-768)cCc>cTc p.P256L NM_001127219.1|NM_032592.3 NP_001120691.1|NP_115981.1 Q96QU6 1A1L1_HUMAN 1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional) 256 1-aminocyclopropane-1-carboxylate synthase activity|protein homodimerization activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups breast(4)|endometrium(3)|large_intestine(11)|lung(15)|ovary(1)|skin(1) 35 CTCATCAGCCCCCAGAACCCT 0.577000 27 46 0 0 1 0 0 CD300A 11314 broad.mit.edu 37 17 72469843 72469843 + Missense_Mutation SNP A A C TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:72469843A>C ENST00000360141.3 + 2 497 c.209A>C c.(208-210)aAa>aCa p.K70T CD300A_ENST00000361933.3_Intron|CD300A_ENST00000392625.3_Intron|CD300A_ENST00000577511.1_5'UTR|CD300A_ENST00000310828.5_Intron NM_001256841.1|NM_007261.3 NP_001243770.1|NP_009192.2 Q9UGN4 CLM8_HUMAN CD300a molecule 70 Ig-like V-type. cell adhesion integral to membrane|plasma membrane receptor activity breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(4)|urinary_tract(1) 16 TCAGCAGGAAAAAGGAACGGC 0.517000 41 154 0 0 1 0 0 C9orf84 158401 broad.mit.edu 37 9 114467530 114467530 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:114467530G>A ENST00000394779.3 - 17 2787 c.2543C>T c.(2542-2544)tCc>tTc p.S848F C9orf84_ENST00000394777.4_Missense_Mutation_p.S813F|C9orf84_ENST00000318737.4_Missense_Mutation_p.S887F|C9orf84_ENST00000374287.3_Missense_Mutation_p.S887F NM_001080551.1 NP_001074020.1 Q5VXU9 CI084_HUMAN chromosome 9 open reading frame 84 887 breast(1)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(10)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 35 AACTTACTTGGATTCTAGCAG 0.318000 34 74 0 0 1 0 0 DNAH17 8632 broad.mit.edu 37 17 76568928 76568928 + Nonsense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:76568928G>A ENST00000389840.5 - 3 518 c.394C>T c.(394-396)Cag>Tag p.Q132* DNAH17_ENST00000585328.1_Nonsense_Mutation_p.Q132* dynein, axonemal, heavy chain 17 NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 116 BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656) GAGACCACCTGGGGCCATCCA 0.512000 21 46 0 0 1 0 0 ADAMTS7 11173 broad.mit.edu 37 15 79083045 79083045 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr15:79083045G>A ENST00000388820.4 - 6 1205 c.995C>T c.(994-996)cCc>cTc p.P332L ADAMTS7_ENST00000566303.1_5'UTR NM_014272.3 NP_055087.2 Q9UKP4 ATS7_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 7 332 Peptidase M12B. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9) 54 ATGGTGCAGGGGATGGGCATC 0.592000 47 103 0 0 1 0 0 TEKT1 83659 broad.mit.edu 37 17 6703397 6703397 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:6703397C>T ENST00000338694.2 - 8 1335 c.1206G>A c.(1204-1206)ggG>ggA p.G402G TEKT1_ENST00000535086.1_Silent_p.G256G NM_053285.1 NP_444515.1 Q969V4 TEKT1_HUMAN tektin 1 402 microtubule cytoskeleton organization cilium axoneme|flagellar axoneme|microtubule NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1) 20 Myeloproliferative disorder(207;0.0255) CATGGTCTTCCCCATCCCGAA 0.502000 90 157 0 0 1 0 0 RLF 6018 broad.mit.edu 37 1 40701556 40701556 + Silent SNP T T G TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:40701556T>G ENST00000372771.4 + 8 1209 c.1182T>G c.(1180-1182)gtT>gtG p.V394V NM_012421.3 NP_036553.2 Q13129 RLF_HUMAN rearranged L-myc fusion 394 chromosome organization|DNA integration|DNA mediated transformation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent DNA binding|protein binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(18)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(4)|urinary_tract(2) 68 Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461) AGGCATCAGTTTGTAAAACAA 0.393000 12 105 0 0 1 0 0 ZIM2 23619 broad.mit.edu 37 19 57286636 57286636 + Missense_Mutation SNP C C T rs141305291 byFrequency TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:57286636C>T ENST00000391708.3 - 12 1546 c.1004G>A c.(1003-1005)cGa>cAa p.R335Q ZIM2_ENST00000599935.1_Missense_Mutation_p.R335Q|AC006115.3_ENST00000595954.1_RNA|ZIM2_ENST00000601070.1_Missense_Mutation_p.R335Q|ZIM2_ENST00000221722.5_Missense_Mutation_p.R335Q|AC006115.3_ENST00000594400.1_RNA|AC006115.3_ENST00000597946.1_RNA|ZIM2_ENST00000593711.1_Missense_Mutation_p.R335Q NM_001146326.1|NM_001146327.1 NP_001139798.1|NP_001139799.1 zinc finger, imprinted 2 NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0314) ACTAAAGGTTCGTTTGCAAAA 0.468000 30 76 0 0 1 0 0 NCAM2 4685 broad.mit.edu 37 21 22658711 22658711 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr21:22658711G>A ENST00000400546.1 + 4 709 c.460G>A c.(460-462)Gaa>Aaa p.E154K NCAM2_ENST00000486367.1_3'UTR|NCAM2_ENST00000535285.1_Missense_Mutation_p.E179K|NCAM2_ENST00000284894.7_Intron NM_004540.3 NP_004531.2 O15394 NCAM2_HUMAN neural cell adhesion molecule 2 154 Ig-like C2-type 2. neuron cell-cell adhesion integral to membrane|plasma membrane breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 108 Lung NSC(9;0.195) all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174) TCATAATGAGGAAGTCACCAC 0.388000 31 51 0 0 1 0 0 IFT172 26160 broad.mit.edu 37 2 27672611 27672611 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:27672611G>A ENST00000260570.3 - 37 4210 c.4107C>T c.(4105-4107)atC>atT p.I1369I NM_015662.1 NP_056477.1 Q9UG01 IF172_HUMAN intraflagellar transport 172 homolog (Chlamydomonas) 1369 cilium assembly cilium binding central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 43 Acute lymphoblastic leukemia(172;0.155) CCTCACCCTCGATGAAAGCAT 0.493000 77 157 0 0 1 0 0 NIPBL 25836 broad.mit.edu 37 5 37000657 37000657 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:37000657C>T ENST00000282516.8 + 12 3986 c.3487C>T c.(3487-3489)Ccc>Tcc p.P1163S NIPBL_ENST00000448238.2_Missense_Mutation_p.P1163S NM_015384.4|NM_133433.3 NP_056199.2|NP_597677.2 Q6KC79 NIPBL_HUMAN Nipped-B homolog (Drosophila) 1163 brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis SMC loading complex chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4) 128 all_lung(31;0.000447)|Hepatocellular(1;0.108) Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202) TTCTCCTCCTCCCAGCCTTAG 0.393000 4 157 0 0 1 0 0 GM2A 2760 broad.mit.edu 37 5 150646406 150646406 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:150646406C>T ENST00000357164.3 + 3 683 c.358C>T c.(358-360)Cct>Tct p.P120S NM_000405.4|NM_001167607.1 NP_000396.2|NP_001161079.1 P17900 SAP3_HUMAN GM2 ganglioside activator 120 lysosome|nucleolus sphingolipid activator protein activity cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|pancreas(1)|upper_aerodigestive_tract(2) 8 Medulloblastoma(196;0.091)|all_hematologic(541;0.207) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) CATGTTAATTCCTACTGGGGA 0.532000 42 98 0 0 1 0 0 FMN2 56776 broad.mit.edu 37 1 240371122 240371122 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:240371122C>T ENST00000319653.9 + 5 3240 c.3010C>T c.(3010-3012)Ccc>Tcc p.P1004S NM_020066.4 NP_064450.3 Q9NZ56 FMN2_HUMAN formin 2 1004 FH1.|Pro-rich. actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions actin binding NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2) 178 Ovarian(103;0.127) all_cancers(173;0.013) OV - Ovarian serous cystadenocarcinoma(106;0.0106) GCCCCCACTTCCCGGAGCGGG 0.716000 9 42 0 0 1 0 0 MAN1B1 11253 broad.mit.edu 37 9 139983450 139983450 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:139983450C>T ENST00000371589.4 + 3 531 c.458C>T c.(457-459)tCg>tTg p.S153L NM_016219.4 NP_057303.2 Q9UKM7 MA1B1_HUMAN mannosidase, alpha, class 1B, member 1 153 oligosaccharide metabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine endoplasmic reticulum membrane|endoplasmic reticulum quality control compartment|integral to membrane alpha-mannosidase activity|calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity autonomic_ganglia(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(2) 14 all_cancers(76;0.0926) Myeloproliferative disorder(178;0.0511) STAD - Stomach adenocarcinoma(284;0.0878) OV - Ovarian serous cystadenocarcinoma(145;3.08e-05)|Epithelial(140;0.000513) CCTGAGATTTCGTCACAGGTA 0.458000 70 192 0 0 1 0 0 PAK7 57144 broad.mit.edu 37 20 9561479 9561479 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr20:9561479C>T ENST00000378429.3 - 5 849 c.303G>A c.(301-303)agG>agA p.R101R PAK7_ENST00000353224.5_Silent_p.R101R|PAK7_ENST00000378423.1_Silent_p.R101R NM_020341.3 NP_065074.1 Q9P286 PAK7_HUMAN p21 protein (Cdc42/Rac)-activated kinase 7 101 Linker. ATP binding|protein binding|protein serine/threonine kinase activity NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3) 81 COAD - Colon adenocarcinoma(9;0.194) GGCTTTCTTTCCTTAGGGAGT 0.532000 7 166 0 0 1 0 0 CERKL 375298 broad.mit.edu 37 2 182413445 182413445 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:182413445C>T ENST00000410087.3 - 7 1135 c.1035G>A c.(1033-1035)cgG>cgA p.R345R CERKL_ENST00000409440.3_Silent_p.R327R|CERKL_ENST00000339098.5_Silent_p.R371R|CERKL_ENST00000374969.2_Silent_p.R232R|CERKL_ENST00000374970.2_Silent_p.R276R|CERKL_ENST00000479558.1_5'UTR NM_001030311.2|NM_201548.4 NP_001025482.1|NP_963842.1 Q49MI3 CERKL_HUMAN ceramide kinase-like 371 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis endoplasmic reticulum|Golgi apparatus|nucleolus diacylglycerol kinase activity NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(13)|ovary(3)|skin(3) 32 OV - Ovarian serous cystadenocarcinoma(117;0.088) CAAAATCTCTCCGTTGGTTAG 0.403000 37 72 0 0 1 0 0 TRIM58 25893 broad.mit.edu 37 1 248039677 248039677 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:248039677C>T ENST00000366481.3 + 6 1395 c.1347C>T c.(1345-1347)ttC>ttT p.F449F OR2W3_ENST00000537741.1_Intron NM_015431.3 NP_056246.3 Q8NG06 TRI58_HUMAN tripartite motif containing 58 449 B30.2/SPRY. intracellular zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1) 63 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) all_cancers(173;0.0286) OV - Ovarian serous cystadenocarcinoma(106;0.0319) CTTACTTTTTCATCTGTGATG 0.423000 122 139 0 0 1 0 0 CCNYL2 414194 broad.mit.edu 37 10 42947107 42947107 + RNA SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:42947107G>A ENST00000483242.3 - 0 647 NR_103829.1 cyclin Y-like 2 breast(2)|endometrium(1)|lung(3)|ovary(1) 7 TGGATGGTCAGAAGGGTTGGG 0.348000 9 22 0 0 1 0 0 COL22A1 169044 broad.mit.edu 37 8 139845347 139845347 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:139845347C>T ENST00000303045.6 - 5 1226 c.780G>A c.(778-780)aaG>aaA p.K260K COL22A1_ENST00000435777.1_Silent_p.K260K NM_152888.1 NP_690848.1 Q8NFW1 COMA1_HUMAN collagen, type XXII, alpha 1 260 TSP N-terminal. cell adhesion collagen|cytoplasm structural molecule activity breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4) 211 all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0517) CATTCTCTCTCTTCCCCAAGA 0.483000 HNSCC(7;0.00092) 34 67 0 0 1 0 0 EMR1 2015 broad.mit.edu 37 19 6903963 6903963 + Splice_Site SNP T T G TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:6903963T>G ENST00000312053.4 + 7 839 c.e7+2 EMR1_ENST00000381407.5_Splice_Site|EMR1_ENST00000450315.3_Intron|EMR1_ENST00000250572.8_Splice_Site|EMR1_ENST00000381404.4_Splice_Site NM_001974.4 NP_001965.3 Q14246 EMR1_HUMAN egf-like module containing, mucin-like, hormone receptor-like 1 cell adhesion|neuropeptide signaling pathway integral to plasma membrane calcium ion binding|G-protein coupled receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8) 62 all_hematologic(4;0.166) AATGTAGAGGTGAGCAGAGAG 0.468000 39 77 0 0 1 0 0 BRD4 23476 broad.mit.edu 37 19 15376368 15376368 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:15376368G>A ENST00000263377.2 - 5 867 c.646C>T c.(646-648)Cct>Tct p.P216S BRD4_ENST00000360016.5_Missense_Mutation_p.P216S|BRD4_ENST00000371835.4_Missense_Mutation_p.P216S NM_058243.2 NP_490597.1 O60885 BRD4_HUMAN bromodomain containing 4 216 interspecies interaction between organisms|positive regulation of G2/M transition of mitotic cell cycle|positive regulation of transcription elongation from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle condensed nuclear chromosome|cytoplasm protein binding breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1) 21 OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18) TGCACAGGAGGAGGATTCGGC 0.597000 T C15orf55 lethal midline carcinoma of young people 81 221 0 0 1 0 0 RNF39 80352 broad.mit.edu 37 6 30043056 30043056 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:30043056C>T ENST00000244360.6 - 1 608 c.511G>A c.(511-513)Ggg>Agg p.G171R RNF39_ENST00000376751.3_Missense_Mutation_p.G171R NM_025236.3 NP_079512.2 Q9H2S5 RNF39_HUMAN ring finger protein 39 171 cytoplasm zinc ion binding CGGCGTCTCCCCGCACGGGCC 0.716000 8 18 0 0 1 0 0 PCDHB8 56128 broad.mit.edu 37 5 140559742 140559742 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:140559742C>T ENST00000239444.2 + 1 2372 c.2127C>T c.(2125-2127)ttC>ttT p.F709F NM_019120.3 NP_061993.2 Q9UN66 PCDB8_HUMAN 709 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 83 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TGCTCCTGTTCGTGGCGGTGC 0.672000 89 172 0 0 1 0 0 FAT4 79633 broad.mit.edu 37 4 126384750 126384750 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:126384750G>A ENST00000394329.3 + 10 11840 c.11827G>A c.(11827-11829)Gaa>Aaa p.E3943K FAT4_ENST00000335110.5_Intron NM_024582.4 NP_078858.4 Q6V0I7 FAT4_HUMAN FAT atypical cadherin 4 3943 EGF-like 4. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6) 355 CAATTACTGTGAATGCAACCC 0.308000 11 13 0 0 1 0 0 FAM71A 149647 broad.mit.edu 37 1 212799681 212799681 + Missense_Mutation SNP G G C TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:212799681G>C ENST00000294829.3 + 1 1893 c.1462G>C c.(1462-1464)Gac>Cac p.D488H RP11-338C15.5_ENST00000427949.1_RNA NM_153606.3 NP_705834.2 Q8IYT1 FA71A_HUMAN family with sequence similarity 71, member A 488 breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(7)|liver(1)|lung(12)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 OV - Ovarian serous cystadenocarcinoma(81;0.00631)|all cancers(67;0.00981)|GBM - Glioblastoma multiforme(131;0.0715)|Epithelial(68;0.094) CAGGCACAGGGACTCGCATAA 0.552000 34 138 0 0 1 0 0 MOG 4340 broad.mit.edu 37 6 29635434 29635434 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:29635434G>A ENST00000376894.4 + 4 683 c.565G>A c.(565-567)Gag>Aag p.E189K MOG_ENST00000376888.2_Missense_Mutation_p.E73K|MOG_ENST00000533330.2_3'UTR|MOG_ENST00000376891.4_Missense_Mutation_p.E189K|MOG_ENST00000376898.3_Missense_Mutation_p.E189K|MOG_ENST00000396704.3_Missense_Mutation_p.E189K|MOG_ENST00000494692.1_Missense_Mutation_p.E189K|MOG_ENST00000490427.1_Missense_Mutation_p.E73K|MOG_ENST00000416766.2_Missense_Mutation_p.E151K|MOG_ENST00000376902.3_3'UTR|MOG_ENST00000376917.3_Missense_Mutation_p.E189K|MOG_ENST00000431798.2_Missense_Mutation_p.E189K|MOG_ENST00000483013.1_Missense_Mutation_p.E73K|MOG_ENST00000396701.2_Missense_Mutation_p.E189K Q16653 MOG_HUMAN myelin oligodendrocyte glycoprotein 189 cell adhesion|central nervous system development|positive regulation of MyD88-dependent toll-like receptor signaling pathway integral to membrane|plasma membrane endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|skin(2) 19 ACTTCGAGCAGAGATAGGTGA 0.498000 39 128 0 0 1 0 0 PRUNE2 158471 broad.mit.edu 37 9 79320856 79320856 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:79320856C>T ENST00000428286.1 - 8 6457 c.5257G>A c.(5257-5259)Gaa>Aaa p.E1753K PRUNE2_ENST00000376718.3_Missense_Mutation_p.E2112K Q8WUY3 PRUN2_HUMAN prune homolog 2 (Drosophila) 2112 apoptosis|G1 phase|induction of apoptosis cytoplasm metal ion binding|pyrophosphatase activity endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1) 16 TGCTTTGCTTCAGAATCGTGA 0.483000 84 131 0 0 1 0 0 ZAN 7455 broad.mit.edu 37 7 100349698 100349698 + RNA SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:100349698C>T ENST00000542585.1 + 0 2118 ZAN_ENST00000538115.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000546292.1_RNA NM_003386.1 NP_003377.1 Q9Y493 ZAN_HUMAN zonadhesin (gene/pseudogene) binding of sperm to zona pellucida|cell-cell adhesion integral to membrane|plasma membrane NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3) 139 Lung NSC(181;0.041)|all_lung(186;0.0581) STAD - Stomach adenocarcinoma(171;0.19) CCCACCGTCCCCACAGAAGAG 0.522000 76 185 0 0 1 0 0 ZCWPW1 55063 broad.mit.edu 37 7 100001862 100001862 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:100001862C>T ENST00000398027.2 - 14 1504 c.1257G>A c.(1255-1257)cgG>cgA p.R419R ZCWPW1_ENST00000324725.6_Silent_p.R299R|ZCWPW1_ENST00000490721.1_Silent_p.R299R|ZCWPW1_ENST00000360951.4_Silent_p.R420R NM_017984.4 NP_060454.3 Q9H0M4 ZCPW1_HUMAN zinc finger, CW type with PWWP domain 1 419 zinc ion binding breast(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1) 16 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) ACAAGTTAACCCGTTCCTAAG 0.433000 21 63 0 0 1 0 0 ANKEF1 63926 broad.mit.edu 37 20 10023937 10023937 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr20:10023937G>A ENST00000378380.3 + 3 843 c.514G>A c.(514-516)Gaa>Aaa p.E172K SNAP25-AS1_ENST00000603542.1_RNA|SNAP25-AS1_ENST00000421143.2_RNA|ANKEF1_ENST00000378392.1_Missense_Mutation_p.E172K|ANKEF1_ENST00000488991.1_3'UTR NM_198798.1 NP_942093.1 ankyrin repeat and EF-hand domain containing 1 GACATTTTTGGAAAAAGGAGC 0.343000 37 76 0 0 1 0 0 SNX13 23161 broad.mit.edu 37 7 17930038 17930038 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:17930038G>A ENST00000409389.1 - 5 560 c.388C>T c.(388-390)Ctt>Ttt p.L130F SNX13_ENST00000409604.1_Missense_Mutation_p.L130F|SNX13_ENST00000428135.3_Missense_Mutation_p.L130F Q9Y5W8 SNX13_HUMAN sorting nexin 13 130 PXA. cell communication|intracellular protein transport|negative regulation of signal transduction|positive regulation of GTPase activity early endosome membrane phosphatidylinositol binding|signal transducer activity breast(1)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(13)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 38 Lung NSC(10;0.0261)|all_lung(11;0.0521) ATTTCAAGAAGAAAAGATTCA 0.323000 22 58 0 0 1 0 0 WBP2NL 164684 broad.mit.edu 37 22 42415720 42415720 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr22:42415720C>T ENST00000328823.9 + 3 257 c.226C>T c.(226-228)Cca>Tca p.P76S WBP2NL_ENST00000543212.1_Missense_Mutation_p.P2S NM_152613.2 NP_689826.2 Q6ICG8 WBP2L_HUMAN WBP2 N-terminal like 76 GRAM. egg activation|male pronucleus assembly|meiosis perinuclear theca WW domain binding breast(2)|large_intestine(3)|lung(5)|ovary(3)|prostate(1) 14 TTTTATGATGCCATTTGATCT 0.408000 105 218 0 0 1 0 0 OR13A1 79290 broad.mit.edu 37 10 45799101 45799101 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:45799101G>A ENST00000553795.1 - 4 1078 c.770C>T c.(769-771)tCc>tTc p.S257F OR13A1_ENST00000374401.2_Missense_Mutation_p.S257F|OR13A1_ENST00000536058.1_Missense_Mutation_p.S257F NM_001004297.2 NP_001004297.2 Q8NGR1 O13A1_HUMAN olfactory receptor, family 13, subfamily A, member 1 257 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(2)|urinary_tract(1) 19 AGAGCAGGTGGAGAAGGCTTT 0.557000 8 90 0 0 1 0 0 FAM27L 284123 broad.mit.edu 37 17 21826310 21826310 + RNA SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:21826310C>T ENST00000426869.3 + 0 493 NR_028336.1 family with sequence similarity 27-like central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1) 14 UCEC - Uterine corpus endometrioid carcinoma (53;0.11)|BRCA - Breast invasive adenocarcinoma(1;0.00463) AACAAGTTACCCTTTTGGCAC 0.572000 7 34 0 0 1 0 0 PCDH15 65217 broad.mit.edu 37 10 55591097 55591097 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:55591097C>T ENST00000373965.2 - 31 4595 c.4201G>A c.(4201-4203)Gtg>Atg p.V1401M PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000437009.1_Missense_Mutation_p.V1323M|PCDH15_ENST00000395445.1_Missense_Mutation_p.V1401M|PCDH15_ENST00000395433.1_Missense_Mutation_p.V1372M|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395430.1_Missense_Mutation_p.V1394M|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000395432.2_Missense_Mutation_p.V1357M|PCDH15_ENST00000395438.1_Missense_Mutation_p.V1394M|PCDH15_ENST00000409834.1_Missense_Mutation_p.V1005M|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000361849.3_Missense_Mutation_p.V1394M|PCDH15_ENST00000414778.1_Missense_Mutation_p.V1399M|PCDH15_ENST00000320301.6_Missense_Mutation_p.V1394M NM_001142771.1|NM_001142772.1 NP_001136243.1|NP_001136244.1 Q96QU1 PCD15_HUMAN protocadherin-related 15 1394 equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1) 237 Melanoma(3;0.117)|Lung SC(717;0.238) ACCAAAACCACCAAGATGGCA 0.458000 HNSCC(58;0.16) 31 101 0 0 1 0 0 ITPRIPL1 150771 broad.mit.edu 37 2 96992897 96992897 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:96992897C>T ENST00000361124.4 + 1 963 c.552C>T c.(550-552)gtC>gtT p.V184V ITPRIPL1_ENST00000439118.2_Silent_p.V176V|ITPRIPL1_ENST00000542887.1_Silent_p.V168V|ITPRIPL1_ENST00000536814.1_Silent_p.V168V NM_178495.5 NP_848590.3 Q6GPH6 IPIL1_HUMAN inositol 1,4,5-trisphosphate receptor interacting protein-like 1 176 integral to membrane breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 AACACTATGTCCAAAATGCCA 0.547000 79 131 0 0 1 0 0 FAM221B 392307 broad.mit.edu 37 9 35826156 35826156 + Translation_Start_Site SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:35826156C>T ENST00000423537.2 - 2 272 c.3G>A c.(1-3)atG>atA p.M1I TMEM8B_ENST00000377996.1_Intron NM_001012446.3 NP_001012448.2 A6H8Z2 CI128_HUMAN family with sequence similarity 221, member B 1 endometrium(2)|kidney(1)|lung(4) 7 CATGTGCTTCCATCTAGTGGT 0.507000 OREG0019180 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 84 0 0 1 0 0 PDGFC 56034 broad.mit.edu 37 4 157693901 157693901 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:157693901C>T ENST00000502773.1 - 4 1130 c.640G>A c.(640-642)Gat>Aat p.D214N PDGFC_ENST00000422544.2_Missense_Mutation_p.D214N|PDGFC_ENST00000504672.1_5'UTR|PDGFC_ENST00000541126.1_Missense_Mutation_p.D51N|PDGFC_ENST00000542208.1_Missense_Mutation_p.D59N NM_016205.2 NP_057289.1 Q9NRA1 PDGFC_HUMAN platelet derived growth factor C 214 central nervous system development|platelet-derived growth factor receptor signaling pathway|positive regulation of cell division|positive regulation of DNA replication|positive regulation of fibroblast proliferation|vascular endothelial growth factor receptor signaling pathway endoplasmic reticulum lumen|extracellular space|Golgi membrane|nucleus cell surface binding|growth factor activity|platelet-derived growth factor receptor binding|protein homodimerization activity central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 19 all_hematologic(180;0.24) Renal(120;0.0458) KIRC - Kidney renal clear cell carcinoma(143;0.08)|Kidney(143;0.0977)|COAD - Colon adenocarcinoma(41;0.212) CTATATAGATCTTCTAAGTCC 0.398000 30 46 0 0 1 0 0 BMPER 168667 broad.mit.edu 37 7 34118567 34118567 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:34118567G>A ENST00000297161.2 + 13 1551 c.1177G>A c.(1177-1179)Gac>Aac p.D393N BMPER_ENST00000426693.1_Missense_Mutation_p.D393N NM_133468.4 NP_597725.1 Q8N8U9 BMPER_HUMAN BMP binding endothelial regulator 393 VWFD. blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation extracellular space breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 48 TTTGACAAAAGACTGCTCCTC 0.582000 73 151 0 0 1 0 0 ACAD9 28976 broad.mit.edu 37 3 128603514 128603514 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:128603514C>T ENST00000308982.7 + 2 250 c.169C>T c.(169-171)Cca>Tca p.P57S NM_014049.4 NP_054768.2 Q9H845 ACAD9_HUMAN acyl-CoA dehydrogenase family, member 9 57 mitochondrion acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 30 TTTCCCATTTCCAGAAGTTAG 0.323000 48 68 0 0 1 0 0 GIPR 2696 broad.mit.edu 37 19 46185076 46185076 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:46185076C>T ENST00000590918.1 + 14 1383 c.1284C>T c.(1282-1284)ttC>ttT p.F428F GIPR_ENST00000263281.3_3'UTR|GIPR_ENST00000304207.8_Silent_p.F392F NM_000164.2 NP_000155.1 P48546 GIPR_HUMAN gastric inhibitory polypeptide receptor 428 generation of precursor metabolites and energy|response to nutrient integral to membrane|plasma membrane endometrium(1)|kidney(2)|lung(5)|prostate(1)|skin(2)|urinary_tract(1) 12 Ovarian(192;0.051)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.0056)|GBM - Glioblastoma multiforme(486;0.0832)|Epithelial(262;0.199) AGCGCGCCTTCCGGGCCCTGC 0.751000 6 15 0 0 1 0 0 KRT34 3885 broad.mit.edu 37 17 39535893 39535893 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:39535893C>T ENST00000394001.1 - 4 835 c.805G>A c.(805-807)Gag>Aag p.E269K NM_021013.3 NP_066293.2 O76011 KRT34_HUMAN keratin 34 269 Coil 2.|Rod. epidermis development intermediate filament protein binding|structural molecule activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 Breast(137;0.000496) CTCCTGGTCTCGTTCAGGACC 0.587000 21 68 0 0 1 0 0 RNF123 63891 broad.mit.edu 37 3 49753384 49753384 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:49753384G>A ENST00000327697.6 + 33 3424 c.3280G>A c.(3280-3282)Gag>Aag p.E1094K RNF123_ENST00000433785.1_Missense_Mutation_p.E206K NM_022064.3 NP_071347.2 Q5XPI4 RN123_HUMAN ring finger protein 123 1094 cytoplasm ligase activity|protein binding|zinc ion binding NS(1)|breast(4)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 38 BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255) ACTGGTGCCTGAGATATTCCT 0.587000 48 91 0 0 1 0 0 SNRPA1 6627 broad.mit.edu 37 15 101827130 101827130 + Nonsense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr15:101827130G>A ENST00000254193.6 - 5 514 c.442C>T c.(442-444)Cag>Tag p.Q148* NM_003090.2 NP_003081.2 P09661 RU2A_HUMAN small nuclear ribonucleoprotein polypeptide A' 148 LRRCT. catalytic step 2 spliceosome|nucleoplasm|U2 snRNP protein binding|RNA binding endometrium(1)|kidney(1)|large_intestine(1)|lung(3) 6 Lung NSC(78;0.00156)|all_lung(78;0.00195)|Melanoma(26;0.00505) OV - Ovarian serous cystadenocarcinoma(32;0.00113)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23) TTCACTTTCTGGAAATCCAGT 0.313000 5 180 0 0 1 0 0 LMTK2 22853 broad.mit.edu 37 7 97833460 97833460 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:97833460C>T ENST00000297293.5 + 13 4738 c.4445C>T c.(4444-4446)tCc>tTc p.S1482F NM_014916.3 NP_055731.2 Q8IWU2 LMTK2_HUMAN lemur tyrosine kinase 2 1482 Missing (in Ref. 2; BAA83031). early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3) 59 all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125) GCCAGCTTTTCCCTCACACAC 0.677000 78 130 0 0 1 0 0 ADCY7 113 broad.mit.edu 37 16 50349380 50349380 + Silent SNP G G A rs144584058 byFrequency TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr16:50349380G>A ENST00000394697.2 + 26 3547 c.3207G>A c.(3205-3207)acG>acA p.T1069T ADCY7_ENST00000254235.3_Silent_p.T1069T P51828 ADCY7_HUMAN adenylate cyclase 7 1069 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to ethanol|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of cAMP biosynthetic process|synaptic transmission|transmembrane transport|water transport integral to membrane|plasma membrane adenylate cyclase activity|ATP binding|metal ion binding breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3) 35 all_cancers(37;0.0127) GBM - Glioblastoma multiforme(240;0.195) Bromocriptine(DB01200) TTGTCTGTACGGACACTGCCA 0.582000 16 110 0 0 1 0 0 ENPP1 5167 broad.mit.edu 37 6 132181575 132181575 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:132181575C>T ENST00000360971.2 + 8 864 c.844C>T c.(844-846)Ccc>Tcc p.P282S NM_006208.2 NP_006199.2 P22413 ENPP1_HUMAN ectonucleotide pyrophosphatase/phosphodiesterase 1 282 Phosphodiesterase. 3'-phosphoadenosine 5'-phosphosulfate metabolic process|biomineral tissue development|cellular phosphate ion homeostasis|cellular response to insulin stimulus|generation of precursor metabolites and energy|immune response|inorganic diphosphate transport|negative regulation of cell growth|negative regulation of fat cell differentiation|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of protein autophosphorylation|nucleoside triphosphate catabolic process|phosphate metabolic process|sequestering of triglyceride|water-soluble vitamin metabolic process basolateral plasma membrane|cell surface|extracellular space|integral to membrane ATP binding|insulin receptor binding|metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|protein homodimerization activity|scavenger receptor activity autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(22)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 46 Breast(56;0.0505) GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022) Amifostine(DB01143)|Ribavirin(DB00811) AATGTATGATCCCAAAATGAA 0.299000 25 38 0 0 1 0 0 PNLIP 5406 broad.mit.edu 37 10 118314941 118314941 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:118314941C>T ENST00000369221.2 + 8 761 c.733C>T c.(733-735)Cca>Tca p.P245S NM_000936.2 NP_000927.1 P16233 LIPP_HUMAN pancreatic lipase 245 lipid catabolic process|retinoid metabolic process|steroid metabolic process extracellular region retinyl-palmitate esterase activity|triglyceride lipase activity p.P245A(2) central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(4)|upper_aerodigestive_tract(1) 43 all cancers(201;0.0131) Bentiromide(DB00522)|Orlistat(DB01083) AGATTTCTTTCCAAATGGAGG 0.388000 36 97 0 0 1 0 0 OR2T8 343172 broad.mit.edu 37 1 248084323 248084323 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:248084323G>A ENST00000319968.4 + 1 4 c.4G>A c.(4-6)Gaa>Aaa p.E2K NM_001005522.1 NP_001005522.1 A6NH00 OR2T8_HUMAN olfactory receptor, family 2, subfamily T, member 8 2 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(20)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 34 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) all_cancers(173;0.0211) OV - Ovarian serous cystadenocarcinoma(106;0.0319) TGAAATCATGGAAAATGGGAG 0.378000 28 128 0 0 1 0 0 C20orf197 284756 broad.mit.edu 37 20 58645663 58645663 + Silent SNP C C T rs74922235 TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr20:58645663C>T ENST00000313426.1 + 4 387 c.81C>T c.(79-81)ttC>ttT p.F27F NM_173644.1 NP_775915.1 Q8N268 CT197_HUMAN chromosome 20 open reading frame 197 27 large_intestine(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 5 BRCA - Breast invasive adenocarcinoma(7;2.33e-09) GTCAACACTTCAAACAACACA 0.338000 34 67 0 0 1 0 0 PLCL1 5334 broad.mit.edu 37 2 198950522 198950522 + Missense_Mutation SNP T T C TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:198950522T>C ENST00000428675.1 + 2 2679 c.2281T>C c.(2281-2283)Tgt>Cgt p.C761R PLCL1_ENST00000437704.2_Missense_Mutation_p.C663R NM_006226.3 NP_006217.3 Q15111 PLCL1_HUMAN phospholipase C-like 1 761 C2. intracellular signal transduction|lipid metabolic process cytoplasm calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 80 Quinacrine(DB01103) TCCAGCGGATTGTTCGGAACA 0.418000 6 155 0 0 1 0 0 KIF16B 55614 broad.mit.edu 37 20 16253940 16253940 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr20:16253940G>A ENST00000354981.2 - 26 4069 c.3912C>T c.(3910-3912)ttC>ttT p.F1304F KIF16B_ENST00000378003.2_Silent_p.F489F|KIF16B_ENST00000355755.3_Silent_p.F1274F NM_001199865.1|NM_024704.4 NP_001186794.1|NP_078980.3 Q96L93 KI16B_HUMAN kinesin family member 16B 1304 cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling early endosome membrane|microtubule ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2) 74 CTCCTTTCTTGAAGAATGGTG 0.532000 30 78 0 0 1 0 0 MYLK 4638 broad.mit.edu 37 3 123418879 123418879 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:123418879G>A ENST00000360772.3 - 19 3814 c.3436C>T c.(3436-3438)Ctc>Ttc p.L1146F MYLK_ENST00000346322.5_Missense_Mutation_p.L1077F|MYLK_ENST00000475616.1_Missense_Mutation_p.L1146F|MYLK_ENST00000360304.3_Missense_Mutation_p.L1146F|MYLK_ENST00000359169.1_Missense_Mutation_p.L1146F Q15746 MYLK_HUMAN myosin light chain kinase 1146 Actin-binding (calcium/calmodulin- insensitive) (By similarity).|Ig-like C2-type 7. aorta smooth muscle tissue morphogenesis|muscle contraction cytosol actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 113 Lung NSC(201;0.0496) GBM - Glioblastoma multiforme(114;0.0736) TCCTGGGAGAGGATGATGAAC 0.577000 52 127 0 0 1 0 0 LRRC4B 94030 broad.mit.edu 37 19 51022372 51022372 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:51022372C>T ENST00000599957.1 - 3 795 c.598G>A c.(598-600)Gag>Aag p.E200K LRRC4B_ENST00000389201.3_Missense_Mutation_p.E200K Q9NT99 LRC4B_HUMAN leucine rich repeat containing 4B 200 cell junction|integral to membrane|presynaptic membrane breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(1)|lung(11)|prostate(4)|skin(1)|urinary_tract(1) 30 all_neural(266;0.131) OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188) AAGGCCGCCTCCGAGATGTAT 0.652000 30 58 0 0 1 0 0 C5orf64 285668 broad.mit.edu 37 5 60982855 60982855 + Missense_Mutation SNP C C G TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:60982855C>G ENST00000505642.1 + 3 258 c.183C>G c.(181-183)ttC>ttG p.F61L C5orf64_ENST00000510414.1_Intron|RP11-2O17.2_ENST00000507264.1_RNA|RP11-2O17.2_ENST00000505623.1_RNA|C5orf64_ENST00000313303.7_Missense_Mutation_p.F61L|RP11-2O17.2_ENST00000513386.1_RNA NM_173667.2 NP_775938.1 Q2M2E5 CE064_HUMAN chromosome 5 open reading frame 64 61 extracellular region breast(1) 1 AAGTTTACTTCCCTTCAATCA 0.433000 59 99 0 0 1 0 0 SYT13 57586 broad.mit.edu 37 11 45265871 45265871 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:45265871C>T ENST00000020926.3 - 6 1124 c.1013G>A c.(1012-1014)cGg>cAg p.R338Q NM_001247987.1|NM_020826.2 NP_001234916.1|NP_065877.1 Q7L8C5 SYT13_HUMAN synaptotagmin XIII 338 C2 2. transport vesicle breast(1)|large_intestine(3)|lung(16)|ovary(1)|skin(2) 23 CTTCAGCTTCCGAGCCTGGTG 0.532000 28 66 0 0 1 0 0 NFATC1 4772 broad.mit.edu 37 18 77171484 77171484 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr18:77171484C>T ENST00000253506.5 + 2 1578 c.1209C>T c.(1207-1209)tcC>tcT p.S403S NFATC1_ENST00000318065.5_Silent_p.S390S|NFATC1_ENST00000587635.1_Silent_p.S403S|NFATC1_ENST00000592223.1_Silent_p.S390S|NFATC1_ENST00000329101.4_Silent_p.S390S|NFATC1_ENST00000586434.1_Silent_p.S390S|NFATC1_ENST00000427363.2_Silent_p.S403S|NFATC1_ENST00000397790.2_Intron|NFATC1_ENST00000591814.1_Silent_p.S403S|NFATC1_ENST00000542384.1_Silent_p.S403S|NFATC1_ENST00000545796.1_Intron NM_006162.3 NP_006153.2 O95644 NFAC1_HUMAN nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1 403 intracellular signal transduction|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter cytoplasm|nucleus FK506 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(1)|soft_tissue(1) 40 Esophageal squamous(42;0.0157)|Melanoma(33;0.144) OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257) AGCCCCTGTCCCCTACGTCCT 0.726000 4 9 0 0 1 0 0 MACF1 23499 broad.mit.edu 37 1 39823110 39823110 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:39823110G>A ENST00000564288.1 + 45 12265 c.11488G>A c.(11488-11490)Gcc>Acc p.A3830T MACF1_ENST00000476350.1_3'UTR|MACF1_ENST00000539005.1_Missense_Mutation_p.A1768T|MACF1_ENST00000567887.1_Missense_Mutation_p.A3867T|MACF1_ENST00000545844.1_Missense_Mutation_p.A1768T|MACF1_ENST00000361689.2_Missense_Mutation_p.A1768T|MACF1_ENST00000372915.3_Missense_Mutation_p.A3835T|MACF1_ENST00000289893.4_Missense_Mutation_p.A2270T|MACF1_ENST00000317713.7_Missense_Mutation_p.A1768T Q9UPN3 MACF1_HUMAN microtubule-actin crosslinking factor 1 3835 cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing Golgi apparatus|microtubule|ruffle membrane actin filament binding|ATPase activity|calcium ion binding|microtubule binding breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10) 203 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) GTCAGCTCAGGCCTTCTTGGA 0.498000 6 100 0 0 1 0 0 COL2A1 1280 broad.mit.edu 37 12 48371864 48371864 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:48371864C>T ENST00000380518.3 - 44 3204 c.3040G>A c.(3040-3042)Gga>Aga p.G1014R COL2A1_ENST00000337299.6_Missense_Mutation_p.G945R|COL2A1_ENST00000493991.1_5'UTR NM_001844.4|NM_033150.2 NP_001835.3|NP_149162.2 P02458 CO2A1_HUMAN collagen, type II, alpha 1 1014 Triple-helical region. axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception collagen type II identical protein binding|platelet-derived growth factor binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3) 64 Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214) Collagenase(DB00048) CCTCTGTCTCCAGATGCTCCA 0.657000 19 42 0 0 1 0 0 ZBBX 79740 broad.mit.edu 37 3 167051674 167051674 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:167051674C>T ENST00000392766.2 - 10 968 c.628G>A c.(628-630)Gaa>Aaa p.E210K ZBBX_ENST00000469220.1_Intron|ZBBX_ENST00000392764.1_Missense_Mutation_p.E181K|ZBBX_ENST00000307529.5_Missense_Mutation_p.E210K|ZBBX_ENST00000455345.2_Missense_Mutation_p.E210K|ZBBX_ENST00000392767.2_Missense_Mutation_p.E210K NM_001199201.1|NM_024687.3 NP_001186130.1|NP_078963.2 A8MT70 ZBBX_HUMAN zinc finger, B-box domain containing 210 intracellular zinc ion binding NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1) 70 TTACTGGTTTCCTTTGTAGAA 0.348000 42 61 0 0 1 0 0 LZTS1 11178 broad.mit.edu 37 8 20110680 20110680 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:20110680G>A ENST00000381569.1 - 3 1119 c.762C>T c.(760-762)tcC>tcT p.S254S LZTS1_ENST00000265801.6_Silent_p.S254S|LZTS1_ENST00000522290.1_Silent_p.S254S Q9Y250 LZTS1_HUMAN leucine zipper, putative tumor suppressor 1 254 cell cycle|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter cell junction|dendritic spine|Golgi apparatus|nucleolus|nucleoplasm|postsynaptic density|postsynaptic membrane DNA binding|protein binding|sequence-specific DNA binding transcription factor activity breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(2)|skin(1)|urinary_tract(1) 29 Colorectal(74;0.0511)|COAD - Colon adenocarcinoma(73;0.207) TGGAGATGGGGGAGCGGACAC 0.617000 11 100 0 0 1 0 0 PARP1 142 broad.mit.edu 37 1 226570784 226570784 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:226570784G>A ENST00000366794.5 - 8 1255 c.1112C>T c.(1111-1113)cCc>cTc p.P371L NM_001618.3 NP_001609.2 P09874 PARP1_HUMAN poly (ADP-ribose) polymerase 1 371 cellular response to insulin stimulus|protein ADP-ribosylation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter nuclear envelope|nucleolus|transcription factor complex DNA binding|identical protein binding|NAD+ ADP-ribosyltransferase activity|protein N-terminus binding|transcription factor binding|zinc ion binding breast(2)|endometrium(4)|kidney(4)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2) 44 Breast(184;0.133) GBM - Glioblastoma multiforme(131;0.0531) GGCTGTGGAGGGCGGAGGCGT 0.547000 Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA 157 196 0 0 1 0 0 ADAM30 11085 broad.mit.edu 37 1 120437544 120437544 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:120437544C>T ENST00000369400.1 - 1 1574 c.1416G>A c.(1414-1416)ggG>ggA p.G472G NM_021794.3 NP_068566.2 Q9UKF2 ADA30_HUMAN ADAM metallopeptidase domain 30 472 Disintegrin. proteolysis integral to membrane metalloendopeptidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2) 38 all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234) all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138) Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117) AACTTGAATTCCCGTCGCAGT 0.478000 25 61 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179664232 179664232 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:179664232G>A ENST00000589042.1 - 6 1120 c.896C>T c.(895-897)cCg>cTg p.P299L TTN_ENST00000359218.5_Missense_Mutation_p.P299L|TTN_ENST00000591111.1_Missense_Mutation_p.P299L|TTN_ENST00000342992.6_Missense_Mutation_p.P299L|TTN_ENST00000460472.2_Missense_Mutation_p.P299L|TTN_ENST00000342175.6_Missense_Mutation_p.P299L|TTN_ENST00000360870.5_Missense_Mutation_p.P299L NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 299 ZIS1. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) AGATGGGGTCGGTGCCCGCAC 0.557000 44 63 0 0 1 0 0 SELE 6401 broad.mit.edu 37 1 169696581 169696581 + Silent SNP G G A rs148912766 TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:169696581G>A ENST00000333360.7 - 10 1693 c.1554C>T c.(1552-1554)ttC>ttT p.F518F SELE_ENST00000367777.1_Silent_p.F455F|SELE_ENST00000367781.4_Silent_p.F455F|SELE_ENST00000367776.1_Silent_p.F455F|SELE_ENST00000367782.4_Silent_p.F455F|SELE_ENST00000367775.1_Silent_p.F393F|C1orf112_ENST00000498289.1_Intron|SELE_ENST00000367780.4_Silent_p.F393F|SELE_ENST00000367779.4_Silent_p.F392F|SELE_ENST00000367774.1_Silent_p.F392F NM_000450.2 NP_000441.2 P16581 LYAM2_HUMAN selectin E 518 Sushi 6. actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 32 all_hematologic(923;0.208) CAGGACAGGCGAACTTGCACA 0.542000 61 76 0 0 1 0 0 ARID2 196528 broad.mit.edu 37 12 46245343 46245343 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:46245343C>T ENST00000334344.6 + 15 3609 c.3437C>T c.(3436-3438)tCg>tTg p.S1146L ARID2_ENST00000444670.1_Missense_Mutation_p.S756L|ARID2_ENST00000422737.1_Missense_Mutation_p.S997L|ARID2_ENST00000479608.1_3'UTR NM_152641.2 NP_689854.2 Q68CP9 ARID2_HUMAN AT rich interactive domain 2 (ARID, RFX-like) 1146 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 116 Lung SC(27;0.192)|Renal(347;0.236) Lung NSC(34;0.106)|all_lung(34;0.22) OV - Ovarian serous cystadenocarcinoma(5;0.00691) GBM - Glioblastoma multiforme(48;0.0153) GTGCCCATTTCGAACTTACAA 0.488000 """N, S, F""" hepatocellular carcinoma 30 86 0 0 1 0 0 CMIP 80790 broad.mit.edu 37 16 81703749 81703749 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr16:81703749C>T ENST00000537098.3 + 8 900 c.828C>T c.(826-828)gaC>gaT p.D276D CMIP_ENST00000398040.4_Silent_p.D123D|CMIP_ENST00000539778.2_Silent_p.D182D|CMIP_ENST00000566513.1_3'UTR NM_198390.2 NP_938204.2 Q8IY22 CMIP_HUMAN c-Maf inducing protein 242 cytoplasm|nucleus endometrium(5)|kidney(1)|lung(7) 13 CTCCACAGGACTTTGGGAAGT 0.592000 6 10 0 0 1 0 0 COL8A1 1295 broad.mit.edu 37 3 99513691 99513691 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:99513691G>A ENST00000261037.3 + 5 1326 c.946G>A c.(946-948)Gga>Aga p.G316R COL8A1_ENST00000273342.4_Missense_Mutation_p.G316R NM_001850.4 NP_001841.2 P27658 CO8A1_HUMAN collagen, type VIII, alpha 1 316 Triple-helical region (COL1). angiogenesis|cell adhesion basement membrane|collagen type VIII breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(15)|skin(5)|upper_aerodigestive_tract(1) 27 ACCCGGAATTGGAAAGCCAGG 0.652000 23 49 0 0 1 0 0 GSDMC 56169 broad.mit.edu 37 8 130789691 130789691 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:130789691G>A ENST00000276708.4 - 2 1024 c.143C>T c.(142-144)tCa>tTa p.S48L NM_031415.2 NP_113603.1 Q9BYG8 GSDMC_HUMAN gasdermin C 48 mitochondrion autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1) 26 TTCCCAAAATGATGAACGAGA 0.428000 46 89 0 0 1 0 0 OR10H3 26532 broad.mit.edu 37 19 15852405 15852405 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:15852405C>T ENST00000305892.1 + 1 203 c.203C>T c.(202-204)tCc>tTc p.S68F NM_013938.1 NP_039226.1 O60404 O10H3_HUMAN olfactory receptor, family 10, subfamily H, member 3 68 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(2)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 17 TGTGCCCTCTCCATCTCTGAG 0.502000 8 473 0 0 1 0 0 HNRNPKP3 399881 broad.mit.edu 37 11 43284466 43284466 + RNA SNP C C G TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:43284466C>G ENST00000511537.1 - 0 469 NR_033868.1 TAGTCTTTCTCCAGTAAGAAC 0.393000 15 30 0 0 1 0 0 FANCI 55215 broad.mit.edu 37 15 89807141 89807141 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr15:89807141C>T ENST00000310775.7 + 8 639 c.553C>T c.(553-555)Cct>Tct p.P185S FANCI_ENST00000567996.1_Missense_Mutation_p.P185S|FANCI_ENST00000300027.8_Missense_Mutation_p.P185S|FANCI_ENST00000451393.2_Missense_Mutation_p.P6S NM_001113378.1 NP_001106849.1 Q9NVI1 FANCI_HUMAN Fanconi anemia, complementation group I 185 cell cycle|DNA repair nucleoplasm protein binding breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 Lung NSC(78;0.0472)|all_lung(78;0.089) CAGGGATGTCCCTCTGACTGC 0.403000 Involved in tolerance or repair of DNA crosslinks Fanconi Anemia 33 58 0 0 1 0 0 BCLAF1 9774 broad.mit.edu 37 6 136599710 136599710 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:136599710C>T ENST00000531224.1 - 4 561 c.309G>A c.(307-309)agG>agA p.R103R BCLAF1_ENST00000527536.1_Silent_p.R103R|BCLAF1_ENST00000530767.1_Silent_p.R103R|BCLAF1_ENST00000392348.2_Silent_p.R101R|BCLAF1_ENST00000527759.1_Silent_p.R101R|BCLAF1_ENST00000353331.4_Silent_p.R101R NM_001077441.1|NM_014739.2 NP_001070909.1|NP_055554.1 Q9NYF8 BCLF1_HUMAN BCL2-associated transcription factor 1 103 induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus DNA binding|protein binding haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1) 9 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331) GTCTAGGACTCCTAGAGTGCC 0.468000 43 220 0 0 1 0 0 PPP1R26 9858 broad.mit.edu 37 9 138379790 138379790 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:138379790C>T ENST00000356818.2 + 4 3983 c.3434C>T c.(3433-3435)cCa>cTa p.P1145L PPP1R26_ENST00000605286.1_Missense_Mutation_p.P1145L|PPP1R26_ENST00000604351.1_Missense_Mutation_p.P1145L|PPP1R26_ENST00000602993.1_Intron|PPP1R26_ENST00000401470.3_Missense_Mutation_p.P1145L|PPP1R26_ENST00000605660.1_Missense_Mutation_p.P1145L NM_014811.3 NP_055626.3 Q5T8A7 K0649_HUMAN protein phosphatase 1, regulatory subunit 26 1145 nucleolus protein binding GGCCCCTGGCCAACCAGGAAG 0.627000 16 36 0 0 1 0 0 KIF9 64147 broad.mit.edu 37 3 47307225 47307225 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:47307225G>A ENST00000335044.2 - 8 1268 c.911C>T c.(910-912)tCg>tTg p.S304L KIF9_ENST00000265529.3_Missense_Mutation_p.S304L|KIF9_ENST00000487440.1_5'UTR|KIF9_ENST00000444589.2_Missense_Mutation_p.S304L|KIF9_ENST00000452770.2_Missense_Mutation_p.S304L|KIF9_ENST00000352910.4_Missense_Mutation_p.S211L NM_001134878.1|NM_182902.3 NP_001128350.1|NP_878905.2 Q9HAQ2 KIF9_HUMAN kinesin family member 9 304 blood coagulation|microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(15)|skin(4)|stomach(2)|upper_aerodigestive_tract(2) 34 Acute lymphoblastic leukemia(5;0.164) BRCA - Breast invasive adenocarcinoma(193;0.000284)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007) CTCACCTAACGAGTCCTTCAG 0.582000 27 73 0 0 1 0 0 TRAF3IP3 80342 broad.mit.edu 37 1 209933707 209933707 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:209933707G>A ENST00000367024.1 + 3 839 c.323G>A c.(322-324)aGg>aAg p.R108K TRAF3IP3_ENST00000400959.3_Intron|TRAF3IP3_ENST00000367025.3_Missense_Mutation_p.R108K|TRAF3IP3_ENST00000367026.3_Intron|TRAF3IP3_ENST00000010338.4_Intron Q9Y228 T3JAM_HUMAN TRAF3 interacting protein 3 108 integral to membrane protein binding breast(2)|endometrium(1)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 32 OV - Ovarian serous cystadenocarcinoma(81;0.045) TGTGCCAGAAGGATTTCTTCT 0.612000 12 20 0 0 1 0 0 OTUD6A 139562 broad.mit.edu 37 X 69282986 69282986 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chrX:69282986G>A ENST00000338352.2 + 1 646 c.612G>A c.(610-612)atG>atA p.M204I NM_207320.1 NP_997203.1 Q7L8S5 OTU6A_HUMAN OTU domain containing 6A 204 OTU. autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|skin(3)|urinary_tract(1) 23 ACGACTTCATGATCTACTGCG 0.622000 35 13 0 0 1 0 0 SPATA31D5P 347127 broad.mit.edu 37 9 84533018 84533018 + RNA SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:84533018G>A ENST00000527857.1 + 0 3040 NR_026851.1 AAGGGCAGGGGACCCTGAGAA 0.468000 22 73 0 0 1 0 0 KDELC2 143888 broad.mit.edu 37 11 108352813 108352813 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:108352813G>A ENST00000434945.2 - 3 955 c.653C>T c.(652-654)cCa>cTa p.P218L KDELC2_ENST00000375648.1_Missense_Mutation_p.P218L|KDELC2_ENST00000532730.1_Intron|KDELC2_ENST00000323468.5_Missense_Mutation_p.P274L Q7Z4H8 KDEL2_HUMAN KDEL (Lys-Asp-Glu-Leu) containing 2 274 endoplasmic reticulum lumen breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1) 13 all_cancers(61;1.38e-11)|all_epithelial(67;3.16e-07)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072) Epithelial(105;6.93e-06)|BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|all cancers(92;0.00016)|OV - Ovarian serous cystadenocarcinoma(223;0.132)|Colorectal(284;0.14) GTCATACGTTGGAAGGACAAC 0.478000 68 66 0 0 1 0 0 ZNF35 7584 broad.mit.edu 37 3 44700836 44700836 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:44700836C>T ENST00000396056.2 + 4 1216 c.981C>T c.(979-981)gtC>gtT p.V327V RP11-944L7.4_ENST00000457331.1_RNA|ZNF35_ENST00000542250.1_Silent_p.V167V|ZNF35_ENST00000296092.3_3'UTR NM_003420.3 NP_003411.3 P13682 ZNF35_HUMAN zinc finger protein 35 327 cellular response to retinoic acid|spermatogenesis nucleus|perinuclear region of cytoplasm sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding large_intestine(3)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(1) 12 Ovarian(412;0.0228) OV - Ovarian serous cystadenocarcinoma(275;2.49e-27)|KIRC - Kidney renal clear cell carcinoma(197;0.0475)|Kidney(197;0.0595) ACCAGAAAGTCCACATTACGG 0.408000 37 75 0 0 1 0 0 GPNMB 10457 broad.mit.edu 37 7 23296725 23296725 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:23296725C>T ENST00000409458.3 + 4 731 c.582C>T c.(580-582)tcC>tcT p.S194S GPNMB_ENST00000453162.2_Intron|GPNMB_ENST00000258733.4_Intron|GPNMB_ENST00000381990.2_Intron|GPNMB_ENST00000539136.1_Intron Q14956 GPNMB_HUMAN glycoprotein (transmembrane) nmb 0 negative regulation of cell proliferation melanosome breast(5)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(3)|stomach(2) 41 GBM - Glioblastoma multiforme(13;0.154) TTTACCTTTCCTTAAAATTTC 0.393000 11 88 0 0 1 0 0 PTPRB 5787 broad.mit.edu 37 12 70990095 70990095 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:70990095G>A ENST00000334414.6 - 5 1036 c.992C>T c.(991-993)cCt>cTt p.P331L PTPRB_ENST00000261266.5_Missense_Mutation_p.P113L|PTPRB_ENST00000551525.1_Missense_Mutation_p.P330L|PTPRB_ENST00000451516.2_Missense_Mutation_p.P113L|PTPRB_ENST00000550857.1_Missense_Mutation_p.P113L|PTPRB_ENST00000538708.1_Missense_Mutation_p.P113L|PTPRB_ENST00000538174.2_5'UTR|PTPRB_ENST00000550358.1_Missense_Mutation_p.P331L NM_001109754.2 NP_001103224.1 P23467 PTPRB_HUMAN protein tyrosine phosphatase, receptor type, B 113 Fibronectin type-III 4. angiogenesis integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity p.P331L(1)|p.P113L(1) breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3) 107 Renal(347;0.236) GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149) AAACCTAGCAGGAGGTAAAGG 0.383000 10 21 0 0 1 0 0 CDH22 64405 broad.mit.edu 37 20 44879721 44879721 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr20:44879721C>T ENST00000372262.3 - 1 613 c.213G>A c.(211-213)gtG>gtA p.V71V CDH22_ENST00000537909.1_Silent_p.V71V NM_021248.1 NP_067071.1 Q9UJ99 CAD22_HUMAN cadherin 22, type 2 71 Cadherin 1. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3) 44 Myeloproliferative disorder(115;0.0122) ACTCCTCTACCACGAAGAACT 0.687000 23 67 0 0 1 0 0 AZI2 64343 broad.mit.edu 37 3 28365684 28365684 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:28365684G>A ENST00000479665.1 - 8 1559 c.1028C>T c.(1027-1029)tCt>tTt p.S343F CMC1_ENST00000466830.1_3'UTR|AZI2_ENST00000295748.3_5'UTR NM_022461.3 NP_071906.1 Q9H6S1 AZI2_HUMAN 5-azacytidine induced 2 343 mitochondrion|plasma membrane cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 15 GTCTTCCAGAGAATTTCTGCC 0.403000 5 219 0 0 1 0 0 TBC1D4 9882 broad.mit.edu 37 13 75873520 75873520 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr13:75873520G>A ENST00000377636.3 - 17 3448 c.3102C>T c.(3100-3102)ctC>ctT p.L1034L TBC1D4_ENST00000478591.1_5'UTR|TBC1D4_ENST00000431480.2_Silent_p.L1026L|TBC1D4_ENST00000377625.2_Silent_p.L971L|TBC1D4_ENST00000425511.1_Silent_p.L198L NM_014832.2 NP_055647.2 O60343 TBCD4_HUMAN TBC1 domain family, member 4 1034 Rab-GAP TBC. cytoplasm Rab GTPase activator activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(12)|lung(18)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 50 Prostate(6;0.014)|Breast(118;0.0982) GBM - Glioblastoma multiforme(99;0.0116) GGTCATACATGAGGAATTTCA 0.507000 20 21 0 0 1 0 0 PRKACB 5567 broad.mit.edu 37 1 84649787 84649787 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:84649787C>T ENST00000370689.2 + 4 569 c.305C>T c.(304-306)cCt>cTt p.P102L PRKACB_ENST00000370685.3_Missense_Mutation_p.P149L|PRKACB_ENST00000470673.1_3'UTR|PRKACB_ENST00000370680.1_Missense_Mutation_p.P108L|PRKACB_ENST00000370688.3_Missense_Mutation_p.P102L|PRKACB_ENST00000394838.2_Missense_Mutation_p.P109L|PRKACB_ENST00000394839.2_Intron|PRKACB_ENST00000370682.3_Missense_Mutation_p.P106L NM_001242862.1|NM_002731.2 NP_001229791.1|NP_002722.1 P22694 KAPCB_HUMAN protein kinase, cAMP-dependent, catalytic, beta 102 Protein kinase. activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein signaling, coupled to cAMP nucleotide second messenger|gluconeogenesis|intracellular protein kinase cascade|nerve growth factor receptor signaling pathway|regulation of insulin secretion|synaptic transmission|transmembrane transport|triglyceride catabolic process|water transport cAMP-dependent protein kinase complex|centrosome|cytosol|nucleoplasm|plasma membrane ATP binding|cAMP-dependent protein kinase activity|magnesium ion binding|protein binding breast(1)|endometrium(2)|kidney(1)|lung(11)|ovary(1) 16 all cancers(265;0.00536)|Epithelial(280;0.0161)|OV - Ovarian serous cystadenocarcinoma(397;0.141) GTGAATTTTCCTTTCCTTGTT 0.269000 5 126 0 0 1 0 0 MNDA 4332 broad.mit.edu 37 1 158813101 158813101 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:158813101C>T ENST00000368141.4 + 3 559 c.298C>T c.(298-300)Cca>Tca p.P100S NM_002432.1 NP_002423.1 P41218 MNDA_HUMAN myeloid cell nuclear differentiation antigen 100 B cell receptor signaling pathway|cellular defense response|negative regulation of B cell proliferation|positive regulation of apoptosis|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent cytoplasm|nucleus DNA binding NS(2)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(26)|ovary(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 65 all_hematologic(112;0.0378) AGAAAAAGCTCCAGTGAAAAA 0.438000 20 83 0 0 1 0 0 SLC15A2 6565 broad.mit.edu 37 3 121642080 121642080 + Nonsense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:121642080G>A ENST00000489711.1 + 11 1357 c.969G>A c.(967-969)tgG>tgA p.W323* SLC15A2_ENST00000295605.2_Nonsense_Mutation_p.W292* NM_021082.3 NP_066568.3 Q16348 S15A2_HUMAN solute carrier family 15 (oligopeptide transporter), member 2 323 protein transport integral to plasma membrane peptide:hydrogen symporter activity|protein binding NS(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(17)|skin(6)|upper_aerodigestive_tract(2) 36 GBM - Glioblastoma multiforme(114;0.0967) Cefadroxil(DB01140) GTTCACGATGGACTTTGCAAG 0.403000 47 75 0 0 1 0 0 MYO18B 84700 broad.mit.edu 37 22 26399266 26399266 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr22:26399266G>A ENST00000335473.7 + 41 6573 c.6323G>A c.(6322-6324)cGa>cAa p.R2108Q MYO18B_ENST00000536101.1_Missense_Mutation_p.R2108Q|MYO18B_ENST00000407587.2_Missense_Mutation_p.R2109Q NM_032608.5 NP_115997.5 Q8IUG5 MY18B_HUMAN myosin XVIIIB 2108 nucleus|sarcomere|unconventional myosin complex actin binding|ATP binding|motor activity NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 146 AGCAGCGGCCGAAAAGAGATG 0.532000 8 25 0 0 1 0 0 CARD6 84674 broad.mit.edu 37 5 40852427 40852427 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:40852427G>A ENST00000254691.5 + 3 1192 c.993G>A c.(991-993)atG>atA p.M331I CARD6_ENST00000381677.3_Intron NM_032587.3 NP_115976.2 Q9BX69 CARD6_HUMAN caspase recruitment domain family, member 6 331 apoptosis|regulation of apoptosis intracellular NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1) 62 ATTTCCTGATGAAAGTTCAAG 0.463000 15 53 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179466641 179466641 + Splice_Site SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:179466641C>T ENST00000589042.1 - 285 55494 c.55269_splice c.e285-1 p.D18424_splice TTN_ENST00000359218.5_Splice_Site_p.D9484_splice|TTN_ENST00000591111.1_Splice_Site_p.D16783_splice|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Splice_Site_p.D15856_splice|TTN_ENST00000460472.2_Splice_Site_p.D9359_splice|TTN_ENST00000342175.6_Splice_Site_p.D9551_splice|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000419746.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 16783 Fibronectin type-III 33. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TGAACTCCATCCTATTAGAAA 0.313000 42 59 0 0 1 0 0 PCDHA8 56140 broad.mit.edu 37 5 140223238 140223238 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:140223238C>T ENST00000531613.1 + 1 2332 c.2332C>T c.(2332-2334)Cct>Tct p.P778S PCDHA8_ENST00000378123.3_Missense_Mutation_p.P778S|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron NM_018911.2 NP_061734.1 NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6) 78 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTGCCTTCCTCCTGATCTGGG 0.493000 24 63 0 0 1 0 0 IFT122 55764 broad.mit.edu 37 3 129234359 129234359 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:129234359C>T ENST00000296266.3 + 27 3527 c.3335C>T c.(3334-3336)tCc>tTc p.S1112F IFT122_ENST00000440957.2_Missense_Mutation_p.S852F|IFT122_ENST00000347300.2_Missense_Mutation_p.S1002F|IFT122_ENST00000504021.1_Missense_Mutation_p.S938F|IFT122_ENST00000349441.2_Missense_Mutation_p.S951F|IFT122_ENST00000507564.1_Missense_Mutation_p.S1054F|IFT122_ENST00000431818.2_Missense_Mutation_p.S911F|IFT122_ENST00000348417.2_Missense_Mutation_p.S1061F NM_052985.2 NP_443711.2 Q9HBG6 IF122_HUMAN intraflagellar transport 122 homolog (Chlamydomonas) 1061 camera-type eye morphogenesis|cilium morphogenesis|embryonic body morphogenesis|embryonic heart tube development|limb development|neural tube closure microtubule basal body|photoreceptor connecting cilium breast(3)|cervix(1)|endometrium(9)|large_intestine(10)|lung(21)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 52 TACCGCTGCTCCACCAACAAC 0.622000 24 28 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179500199 179500199 + Missense_Mutation SNP C C T rs55723264 TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:179500199C>T ENST00000589042.1 - 227 42076 c.41852G>A c.(41851-41853)gGa>gAa p.G13951E TTN_ENST00000359218.5_Missense_Mutation_p.G5011E|TTN_ENST00000591111.1_Missense_Mutation_p.G12310E|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G11383E|TTN_ENST00000460472.2_Missense_Mutation_p.G4886E|TTN_ENST00000342175.6_Missense_Mutation_p.G5078E|TTN-AS1_ENST00000589487.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 12310 Ig-like 95. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GTATCTTTTTCCTTCAATTTC 0.338000 9 12 0 0 1 0 0 KDM7A 80853 broad.mit.edu 37 7 139824437 139824437 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:139824437G>A ENST00000397560.2 - 7 1132 c.1035C>T c.(1033-1035)acC>acT p.T345T JHDM1D_ENST00000006967.5_Silent_p.T345T NM_030647.1 NP_085150.1 Q6ZMT4 KDM7_HUMAN 345 JmjC. midbrain development|transcription, DNA-dependent nucleolus histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1) 22 Melanoma(164;0.0142) GAACAAATAAGGTATGTCCCT 0.413000 34 81 0 0 1 0 0 DAXX 1616 broad.mit.edu 37 6 33289242 33289242 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:33289242C>T ENST00000374542.5 - 3 514 c.310G>A c.(310-312)Gag>Aag p.E104K DAXX_ENST00000414083.2_Missense_Mutation_p.E29K|DAXX_ENST00000477162.1_Intron|DAXX_ENST00000266000.6_Missense_Mutation_p.E104K NM_001141969.1|NM_001141970.1|NM_001350.4 NP_001135441.1|NP_001135442.1|NP_001341.1 Q9UER7 DAXX_HUMAN death-domain associated protein 104 Necessary for interaction with USP7. activation of JUN kinase activity|androgen receptor signaling pathway|apoptosis|induction of apoptosis via death domain receptors|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|regulation of protein ubiquitination|transcription, DNA-dependent chromosome, centromeric region|cytosol|nucleolus|PML body androgen receptor binding|heat shock protein binding|p53 binding|protein homodimerization activity|protein N-terminus binding|receptor signaling protein activity|transcription factor binding|ubiquitin protein ligase binding breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(2)|lung(7)|ovary(3)|pancreas(18)|prostate(3)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 55 TTGCAGAACTCCGCCGAGGCC 0.562000 """Mis, F, N""" Pancreatic neuroendocrine tumors. Paediatric GBM 128 142 0 0 1 0 0 PCDHA11 56138 broad.mit.edu 37 5 140250596 140250596 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:140250596G>A ENST00000398640.2 + 1 1908 c.1908G>A c.(1906-1908)ctG>ctA p.L636L PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000530339.1_Intron NM_018902.3 NP_061725.1 breast(1)|lung(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CGCGTGCCCTGGACGAGGCAG 0.667000 30 155 0 0 1 0 0 FAM160B2 64760 broad.mit.edu 37 8 21951980 21951980 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:21951980C>T ENST00000289921.7 + 2 121 c.75C>T c.(73-75)gcC>gcT p.A25A NM_022749.5 NP_073586.5 Q86V87 F16B2_HUMAN family with sequence similarity 160, member B2 25 endometrium(2)|kidney(1)|lung(2)|prostate(3)|urinary_tract(1) 9 TGCTGCAGGCCTTCGTGGAGC 0.672000 8 87 0 0 1 0 0 VSTM4 196740 broad.mit.edu 37 10 50315833 50315833 + Missense_Mutation SNP C C A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:50315833C>A ENST00000332853.3 - 2 286 c.263G>T c.(262-264)gGg>gTg p.G88V VSTM4_ENST00000298454.3_Missense_Mutation_p.G88V NM_001031746.3 NP_001026916.2 Q8IW00 CJ072_HUMAN V-set and transmembrane domain containing 4 88 Ig-like. integral to membrane|plasma membrane breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|skin(2) 31 GCTGAAATTCCCATAGTACTG 0.627000 38 75 3.61848e-18 3.65228e-18 1 1 0 SEMA6C 10500 broad.mit.edu 37 1 151110241 151110241 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:151110241G>A ENST00000341697.3 - 10 2393 c.702C>T c.(700-702)gaC>gaT p.D234D Q9H3T2 SEM6C_HUMAN sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6C 234 Sema. integral to membrane receptor activity central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 28 Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211) AGTAGACATGGTCTCCATGCT 0.562000 8 213 0 0 1 0 0 KCTD16 57528 broad.mit.edu 37 5 143853389 143853389 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:143853389G>A ENST00000507359.2 + 3 2090 c.999G>A c.(997-999)gtG>gtA p.V333V KCTD16_ENST00000512467.1_Silent_p.V333V NM_020768.3 NP_065819.1 Q68DU8 KCD16_HUMAN potassium channel tetramerization domain containing 16 333 cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex voltage-gated potassium channel activity large_intestine(5)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1) 21 all_hematologic(541;0.118) KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176) GTGGTCCCGTGACACGCCAGA 0.592000 11 110 0 0 1 0 0 RNF32 140545 broad.mit.edu 37 7 156468528 156468528 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:156468528G>A ENST00000405335.1 + 9 1232 c.823G>A c.(823-825)Gaa>Aaa p.E275K RNF32_ENST00000343665.4_Missense_Mutation_p.E251K|AC005534.9_ENST00000430825.1_RNA|RNF32_ENST00000317955.5_Missense_Mutation_p.E275K|RNF32_ENST00000392743.2_Missense_Mutation_p.E275K|RNF32_ENST00000311822.8_Missense_Mutation_p.E275K|RNF32_ENST00000432459.2_Missense_Mutation_p.E275K Q9H0A6 RNF32_HUMAN ring finger protein 32 275 aggresome|endosome protein binding|zinc ion binding cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(2) 15 Ovarian(565;0.218) all_hematologic(28;0.0592) OV - Ovarian serous cystadenocarcinoma(82;0.00291) UCEC - Uterine corpus endometrioid carcinoma (81;0.169) TGAGATCACAGAAGAGGAATG 0.502000 5 199 0 0 1 0 0 WT1-AS 51352 broad.mit.edu 37 11 32460415 32460415 + RNA SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:32460415C>T ENST00000395900.1 + 0 1293 WT1-AS_ENST00000426618.2_RNA|WT1-AS_ENST00000525436.1_RNA|WT1-AS_ENST00000442957.1_RNA NR_023920.1 endometrium(1)|large_intestine(2)|lung(2)|prostate(1) 6 tctaccTCTTCAGAGCTAATG 0.542000 8 32 0 0 1 0 0 FAM208B 54906 broad.mit.edu 37 10 5789017 5789017 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:5789017C>T ENST00000328090.5 + 15 4258 c.3633C>T c.(3631-3633)gcC>gcT p.A1211A NM_017782.4 NP_060252.4 Q5VWN6 CJ018_HUMAN family with sequence similarity 208, member B 1211 CATCATCAGCCTCTACCACCT 0.473000 32 95 0 0 1 0 0 IGKV1D-13 28902 broad.mit.edu 37 2 90193262 90193262 + RNA SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:90193262G>A ENST00000390275.2 + 0 369 AGAAACCAGGGAAAGCTCCTA 0.527000 66 146 0 0 1 0 0 KRTAP4-9 100132386 broad.mit.edu 37 17 39262090 39262090 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:39262090C>T ENST00000391415.1 + 1 507 c.450C>T c.(448-450)tgC>tgT p.C150C NM_001146041.1 NP_001139513.1 Q9BYQ8 KRA49_HUMAN keratin associated protein 4-9 150 29 X 5 AA repeats of C-C-[RQVHIEK]- [SPTR]-[VSTQCRNP]. keratin filament central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3) 14 ccaactgctgccgccccagct 0.662000 5 29 0 0 1 0 0 MYH13 8735 broad.mit.edu 37 17 10231403 10231403 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:10231403G>A ENST00000418404.3 - 21 2634 c.2471C>T c.(2470-2472)tCt>tTt p.S824F MYH13_ENST00000252172.4_Missense_Mutation_p.S824F|MYH13_ENST00000570743.1_Missense_Mutation_p.S824F|RP11-401O9.3_ENST00000577743.1_RNA Q9UKX3 MYH13_HUMAN myosin, heavy chain 13, skeletal muscle 824 muscle contraction muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|microfilament motor activity breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2) 108 GTTCATAAAAGAGCGGATGTT 0.502000 OREG0024177 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 33 83 0 0 1 0 0 MED16 10025 broad.mit.edu 37 19 886109 886109 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:886109G>A ENST00000312090.6 - 5 690 c.540C>T c.(538-540)atC>atT p.I180I MED16_ENST00000325464.1_Silent_p.I180I|MED16_ENST00000395808.3_Silent_p.I180I|MED16_ENST00000269814.4_Silent_p.I180I|MED16_ENST00000606828.1_Intron|MED16_ENST00000589119.1_Silent_p.I180I Q9Y2X0 MED16_HUMAN mediator complex subunit 16 180 androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex receptor activity|thyroid hormone receptor binding|thyroid hormone receptor coactivator activity|vitamin D receptor binding NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 21 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CCGTCACCGCGATCCAGCCCT 0.692000 18 24 0 0 1 0 0 IRGC 56269 broad.mit.edu 37 19 44222905 44222905 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:44222905G>A ENST00000244314.5 + 2 394 c.195G>A c.(193-195)gcG>gcA p.A65A NM_019612.3 NP_062558.1 Q6NXR0 IIGP5_HUMAN immunity-related GTPase family, cinema 65 membrane GTP binding|hydrolase activity, acting on acid anhydrides p.A65A(1) central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(2) 25 Prostate(69;0.0435) AGTCGGGCGCGGGCAAGTCCT 0.701000 52 88 0 0 1 0 0 CHRM2 1129 broad.mit.edu 37 7 136700748 136700748 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:136700748C>T ENST00000445907.2 + 3 1664 c.1136C>T c.(1135-1137)cCt>cTt p.P379L AC009264.1_ENST00000439694.1_RNA|CHRM2_ENST00000397608.3_Missense_Mutation_p.P379L|CHRM2_ENST00000453373.1_Missense_Mutation_p.P379L|AC009264.1_ENST00000598184.1_RNA|AC009264.1_ENST00000593789.1_RNA|AC009264.1_ENST00000425981.2_RNA|AC009264.1_ENST00000586239.1_RNA|CHRM2_ENST00000320658.5_Missense_Mutation_p.P379L|AC009264.1_ENST00000597642.1_RNA|AC009264.1_ENST00000592183.1_RNA|CHRM2_ENST00000402486.3_Missense_Mutation_p.P379L|CHRM2_ENST00000401861.1_Missense_Mutation_p.P379L NM_001006627.1|NM_001006629.1 NP_001006628.1|NP_001006630.1 P08172 ACM2_HUMAN cholinergic receptor, muscarinic 2 379 activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|nervous system development|regulation of heart contraction|response to virus cell junction|integral to plasma membrane|postsynaptic membrane muscarinic acetylcholine receptor activity|protein binding central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 68 Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508) AAGCCTCCTCCTTCCCGGGAA 0.458000 48 139 0 0 1 0 0 CRYBA4 1413 broad.mit.edu 37 22 27018595 27018595 + Nonsense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr22:27018595G>A ENST00000354760.3 + 2 70 c.35G>A c.(34-36)tGg>tAg p.W12* CRYBA4_ENST00000466315.1_3'UTR NM_001886.2 NP_001877.1 P53673 CRBA4_HUMAN crystallin, beta A4 12 Beta/gamma crystallin 'Greek key' 1. camera-type eye development|visual perception soluble fraction structural constituent of eye lens large_intestine(6)|liver(1)|lung(6)|skin(3)|urinary_tract(2) 18 GCGGGACCCTGGAAGGTAGGA 0.537000 27 61 0 0 1 0 0 OTOGL 283310 broad.mit.edu 37 12 80733024 80733024 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:80733024C>T ENST00000458043.2 + 42 5009 c.5003C>T c.(5002-5004)tCc>tTc p.S1668F OTOGL_ENST00000547103.1_Missense_Mutation_p.S1656F NM_173591.3 NP_775862.3 otogelin-like breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1) 23 AACTTGTCATCCTACACAGAA 0.353000 78 205 0 0 1 0 0 LCE3E 353145 broad.mit.edu 37 1 152538648 152538648 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:152538648G>A ENST00000368789.1 - 2 92 c.37C>T c.(37-39)Cca>Tca p.P13S NM_178435.2 NP_848522.1 Q5T5B0 LCE3E_HUMAN late cornified envelope 3E 13 keratinization lung(6)|ovary(1) 7 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) Lung(1;0.000294)|LUAD - Lung adenocarcinoma(1;0.00527)|LUSC - Lung squamous cell carcinoma(543;0.206) UCEC - Uterine corpus endometrioid carcinoma (5;0.153) CACTTGGGTGGGGGTTGGCAC 0.572000 96 91 0 0 1 0 0 KCNA6 3742 broad.mit.edu 37 12 4920395 4920395 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:4920395C>T ENST00000433855.1 + 1 2054 c.1188C>T c.(1186-1188)ttC>ttT p.F396F KCNA6_ENST00000280684.3_Silent_p.F396F NM_002235.3 NP_002226.1 P17658 KCNA6_HUMAN potassium voltage-gated channel, shaker-related subfamily, member 6 396 voltage-gated potassium channel complex voltage-gated potassium channel activity NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5) 49 CCGTCTACTTCGCAGAGGCTG 0.567000 HNSCC(72;0.22) 92 39 0 0 1 0 0 KLHL1 57626 broad.mit.edu 37 13 70314662 70314662 + Missense_Mutation SNP A A C TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr13:70314662A>C ENST00000377844.4 - 8 2425 c.1666T>G c.(1666-1668)Tat>Gat p.Y556D KLHL1_ENST00000545028.1_Missense_Mutation_p.Y363D NM_020866.2 NP_065917.1 Q9NR64 KLHL1_HUMAN kelch-like family member 1 556 actin cytoskeleton organization cytoplasm|cytoskeleton actin binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1) 84 Breast(118;0.000162) COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211) CCCACAGCATAAATAGGGCCT 0.383000 6 73 0 0 1 0 0 SIPA1L3 23094 broad.mit.edu 37 19 38621191 38621191 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:38621191C>T ENST00000222345.6 + 10 3431 c.2922C>T c.(2920-2922)ctC>ctT p.L974L NM_015073.1 NP_055888.1 O60292 SI1L3_HUMAN signal-induced proliferation-associated 1 like 3 974 PDZ. regulation of small GTPase mediated signal transduction intracellular GTPase activator activity NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3) 59 Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292) GGAACGGGCTCGGGCAGCTGG 0.667000 44 81 0 0 1 0 0 TMEM135 65084 broad.mit.edu 37 11 86749164 86749164 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:86749164C>T ENST00000340353.7 + 1 279 c.77C>T c.(76-78)tCc>tTc p.S26F TMEM135_ENST00000305494.5_Missense_Mutation_p.S26F|TMEM135_ENST00000355734.4_Missense_Mutation_p.S26F|TMEM135_ENST00000532959.1_Intron|TMEM135_ENST00000535167.1_5'UTR NM_001168724.1 NP_001162195.1 Q86UB9 TM135_HUMAN transmembrane protein 135 26 integral to membrane NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 17 Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123) TGCCGGGTCTCCTTCCTGCAG 0.612000 51 73 0 0 1 0 0 PDE4DIP 9659 broad.mit.edu 37 1 144918866 144918866 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:144918866G>A ENST00000529945.1 - 6 2248 c.1809C>T c.(1807-1809)aaC>aaT p.N603N PDE4DIP_ENST00000313431.9_Silent_p.N603N|PDE4DIP_ENST00000313382.9_Silent_p.N506N|PDE4DIP_ENST00000369351.3_Silent_p.N440N|PDE4DIP_ENST00000479408.2_Silent_p.N227N|PDE4DIP_ENST00000369356.4_Silent_p.N440N|PDE4DIP_ENST00000530740.1_Silent_p.N577N|PDE4DIP_ENST00000369359.4_Silent_p.N577N|PDE4DIP_ENST00000369349.3_Silent_p.N440N|PDE4DIP_ENST00000369354.3_Silent_p.N440N Q5VU43 MYOME_HUMAN phosphodiesterase 4D interacting protein 440 cellular protein complex assembly centrosome|Golgi apparatus|myofibril|nucleus enzyme binding NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 176 Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126) TCAGACTATGGTTTAGGTGCT 0.388000 T PDGFRB MPD 152 994 0 0 1 0 0 OR2B3 442184 broad.mit.edu 37 6 29054263 29054263 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:29054263C>T ENST00000377173.2 - 1 827 c.763G>A c.(763-765)Gcc>Acc p.A255T NM_001005226.2 NP_001005226.1 olfactory receptor, family 2, subfamily B, member 3 breast(1)|endometrium(1)|kidney(2)|lung(17)|prostate(1)|skin(2) 24 ATATAAATGGCTGTTCCATAA 0.443000 21 70 0 0 1 0 0 KCTD17 79734 broad.mit.edu 37 22 37453528 37453528 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr22:37453528G>A ENST00000403888.3 + 4 503 c.502G>A c.(502-504)Gag>Aag p.E168K KCTD17_ENST00000402077.3_Missense_Mutation_p.E168K Q8N5Z5 KCD17_HUMAN potassium channel tetramerization domain containing 17 168 voltage-gated potassium channel complex identical protein binding|voltage-gated potassium channel activity NS(1)|breast(1)|endometrium(1)|lung(1)|prostate(1) 5 CTGGCGCTTCGAGCAGGTGCG 0.662000 14 24 0 0 1 0 0 CLEC16A 23274 broad.mit.edu 37 16 11154788 11154788 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr16:11154788C>T ENST00000409790.1 + 19 2255 c.2025C>T c.(2023-2025)tcC>tcT p.S675S CLEC16A_ENST00000409552.3_Silent_p.S657S|CLEC16A_ENST00000465491.1_3'UTR NM_015226.2 NP_056041.1 Q2KHT3 CL16A_HUMAN C-type lectin domain family 16, member A 675 p.0?(1) breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 TGCTGCGTTCCCTGTCACTGC 0.547000 100 199 0 0 1 0 0 EXD2 55218 broad.mit.edu 37 14 69695608 69695608 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr14:69695608C>T ENST00000409014.1 + 5 691 c.34C>T c.(34-36)Cgc>Tgc p.R12C EXD2_ENST00000312994.5_Missense_Mutation_p.R137C|EXD2_ENST00000409018.3_Missense_Mutation_p.R137C|EXD2_ENST00000409675.1_Missense_Mutation_p.R12C|EXD2_ENST00000409242.1_Missense_Mutation_p.R12C|EXD2_ENST00000492815.1_3'UTR|EXD2_ENST00000409949.1_Missense_Mutation_p.R12C|EXD2_ENST00000449989.1_Missense_Mutation_p.R12C NM_001193360.1 NP_001180289.1 Q9NVH0 EXD2_HUMAN exonuclease 3'-5' domain containing 2 12 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process intracellular 3'-5' exonuclease activity|nucleic acid binding breast(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(7)|prostate(1)|urinary_tract(1) 14 TGTCTTGGTTCGCCTGCCCAA 0.478000 26 39 0 0 1 0 0 WDR49 151790 broad.mit.edu 37 3 167245683 167245683 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:167245683C>T ENST00000308378.3 - 11 1778 c.1473G>A c.(1471-1473)ctG>ctA p.L491L WDR49_ENST00000479765.1_Intron|WDR49_ENST00000453925.2_Intron|WDR49_ENST00000476376.1_Silent_p.L316L NM_178824.3 NP_849146.1 Q8IV35 WDR49_HUMAN WD repeat domain 49 491 breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 50 AGGAGATAATCAGTAACTGAC 0.428000 33 56 0 0 1 0 0 ASB15 142685 broad.mit.edu 37 7 123269303 123269303 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:123269303C>T ENST00000451558.1 + 12 1776 c.1255C>T c.(1255-1257)Ccc>Tcc p.P419S ASB15_ENST00000434204.1_Missense_Mutation_p.P419S|ASB15_ENST00000540573.1_Missense_Mutation_p.P419S|ASB15_ENST00000451215.1_Missense_Mutation_p.P419S|ASB15_ENST00000275699.3_Missense_Mutation_p.P419S Q8WXK1 ASB15_HUMAN ankyrin repeat and SOCS box containing 15 419 intracellular signal transduction breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(3) 12 CACTCGTTTCCCCAGTGTCAT 0.423000 67 185 0 0 1 0 0 ACSM3 6296 broad.mit.edu 37 16 20787233 20787233 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr16:20787233G>A ENST00000289416.5 + 3 767 c.292G>A c.(292-294)Gag>Aag p.E98K ACSM3_ENST00000440284.2_Missense_Mutation_p.E98K|ACSM3_ENST00000450120.2_Missense_Mutation_p.E53K NM_005622.3 NP_005613.2 Q53FZ2 ACSM3_HUMAN acyl-CoA synthetase medium-chain family member 3 98 regulation of blood pressure mitochondrial matrix ATP binding|butyrate-CoA ligase activity|metal ion binding breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2) 21 ATGGAGTTTTGAGGAACTGGG 0.448000 64 107 0 0 1 0 0 CDH2 1000 broad.mit.edu 37 18 25543323 25543323 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr18:25543323C>T ENST00000269141.3 - 15 2935 c.2512G>A c.(2512-2514)Gag>Aag p.E838K CDH2_ENST00000399380.3_Missense_Mutation_p.E807K|AC015933.2_ENST00000423367.1_RNA NM_001792.3 NP_001783.2 P19022 CADH2_HUMAN cadherin 2, type 1, N-cadherin (neuronal) 838 adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation catenin complex|integral to membrane alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 82 CTCTGTACCTCATTAATGAAG 0.473000 20 39 0 0 1 0 0 TRAV12-1 28674 broad.mit.edu 37 14 22309689 22309689 + RNA SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr14:22309689G>A ENST00000390433.1 + 0 73 CCAACGGAAGGAGGTGGAGCA 0.468000 28 35 0 0 1 0 0 FLG 2312 broad.mit.edu 37 1 152283090 152283090 + Missense_Mutation SNP T T A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:152283090T>A ENST00000368799.1 - 3 4307 c.4272A>T c.(4270-4272)aaA>aaT p.K1424N FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 1424 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GTGCGGACTCTTTGTGGCTCT 0.552000 Ichthyosis 179 448 0 0 1 0 0 GLTSCR1L 23506 broad.mit.edu 37 6 42796398 42796398 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:42796398C>T ENST00000314073.5 + 6 503 c.327C>T c.(325-327)tcC>tcT p.S109S GLTSCR1L_ENST00000394168.1_Silent_p.S109S GLTSCR1-like TTCAGAAATCCTTGCAAGAGG 0.453000 57 145 0 0 1 0 0 IGSF9B 22997 broad.mit.edu 37 11 133790385 133790385 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:133790385C>T ENST00000321016.8 - 18 3465 c.3235G>A c.(3235-3237)Gga>Aga p.G1079R IGSF9B_ENST00000533871.2_Missense_Mutation_p.G1079R Q9UPX0 TUTLB_HUMAN immunoglobulin superfamily, member 9B 1079 Pro-rich. integral to membrane|plasma membrane breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 all_hematologic(175;0.127) all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559) Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221) GGGGGCAGTCCTCGGGGGAGG 0.721000 25 18 0 0 1 0 0 WNT7A 7476 broad.mit.edu 37 3 13896292 13896292 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:13896292C>T ENST00000285018.4 - 3 611 c.307G>A c.(307-309)Gag>Aag p.E103K NM_004625.3 NP_004616.2 O00755 WNT7A_HUMAN wingless-type MMTV integration site family, member 7A 103 EA -> DG (in Ref. 1; AAC51319). activation of JUN kinase activity|anterior/posterior pattern formation|canonical Wnt receptor signaling pathway|cell proliferation in forebrain|cellular response to transforming growth factor beta stimulus|central nervous system vasculogenesis|cerebellar granule cell differentiation|dorsal/ventral pattern formation|embryonic axis specification|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic leg morphogenesis|lens fiber cell development|negative regulation of neurogenesis|palate development|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of JNK cascade|positive regulation of synaptogenesis|positive regulation of transcription from RNA polymerase II promoter|regulation of axon diameter|satellite cell activation|satellite cell maintenance involved in skeletal muscle regeneration|sex differentiation|uterus development|Wnt receptor signaling pathway involved in wound healing, spreading of epidermal cells|Wnt receptor signaling pathway, calcium modulating pathway extracellular space|plasma membrane|proteinaceous extracellular matrix cytokine activity|frizzled binding|receptor agonist activity|signal transducer activity NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1) 24 AACGCAGCCTCCCGGCTCCCT 0.627000 30 79 0 0 1 0 0 SCN3A 6328 broad.mit.edu 37 2 165997284 165997284 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:165997284G>A ENST00000360093.3 - 13 2387 c.1896C>T c.(1894-1896)tcC>tcT p.S632S SCN3A_ENST00000283254.7_Silent_p.S632S|SCN3A_ENST00000409101.3_Intron NM_001081677.1 NP_001075146.1 Q9NY46 SCN3A_HUMAN sodium channel, voltage-gated, type III, alpha subunit 632 voltage-gated sodium channel complex voltage-gated sodium channel activity NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3) 120 Lamotrigine(DB00555) GCACCATCCTGGATGACATAC 0.527000 35 76 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179629380 179629380 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:179629380G>A ENST00000589042.1 - 42 10086 c.9862C>T c.(9862-9864)Ctt>Ttt p.L3288F TTN_ENST00000359218.5_Missense_Mutation_p.L3242F|TTN_ENST00000591111.1_Missense_Mutation_p.L3288F|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.L3288F|TTN_ENST00000460472.2_Missense_Mutation_p.L3242F|TTN_ENST00000342175.6_Missense_Mutation_p.L3242F|TTN_ENST00000360870.5_Missense_Mutation_p.L3288F NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 3017 Ig-like 19. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) CCATCATGAAGAAATTTGCAC 0.498000 6 240 0 0 1 0 0 CXXC4 80319 broad.mit.edu 37 4 105393494 105393494 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:105393494G>A ENST00000394767.2 - 3 1539 c.1089C>T c.(1087-1089)ttC>ttT p.F363F CXXC4_ENST00000426831.1_Silent_p.F194F|CXXC4_ENST00000466963.1_5'UTR NM_025212.2 NP_079488.2 Q9H2H0 CXXC4_HUMAN CXXC finger protein 4 194 negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway|zygotic specification of dorsal/ventral axis DNA binding|PDZ domain binding|zinc ion binding kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 11 OV - Ovarian serous cystadenocarcinoma(123;3.05e-08) AGAACCATCGGAATGCTTCAG 0.343000 45 125 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9082946 9082946 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:9082946C>T ENST00000397910.4 - 1 9072 c.8869G>A c.(8869-8871)Ggt>Agt p.G2957S NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 2958 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 TCAGTAAAACCTGTTGATTGA 0.502000 6 143 0 0 1 0 0 EPC1 80314 broad.mit.edu 37 10 32573765 32573765 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:32573765G>A ENST00000319778.6 - 10 1907 c.1605C>T c.(1603-1605)tcC>tcT p.S535S EPC1_ENST00000375110.2_Silent_p.S485S|EPC1_ENST00000263062.8_Silent_p.S535S NM_001272004.1|NM_001272019.1 NP_001258933.1|NP_001258948.1 Q9H2F5 EPC1_HUMAN enhancer of polycomb homolog 1 (Drosophila) 535 histone H2A acetylation|histone H4 acetylation|negative regulation of gene expression, epigenetic|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of growth|transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear membrane|Piccolo NuA4 histone acetyltransferase complex breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(5)|urinary_tract(1) 24 Prostate(175;0.0199) TGTCATGTAGGGATGGTGTCC 0.423000 12 196 0 0 1 0 0 TGFBR3 7049 broad.mit.edu 37 1 92182153 92182153 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:92182153G>A ENST00000212355.4 - 11 2144 c.1679C>T c.(1678-1680)tCc>tTc p.S560F TGFBR3_ENST00000525962.1_Missense_Mutation_p.S560F|TGFBR3_ENST00000370399.2_Missense_Mutation_p.S559F NM_001195683.1|NM_003243.4 NP_001182612.1|NP_003234.2 Q03167 TGBR3_HUMAN transforming growth factor, beta receptor III 560 ZP. BMP signaling pathway|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cell growth|cell migration|definitive erythrocyte differentiation|heart trabecula formation|immune response|intracellular protein kinase cascade|liver development|negative regulation of cellular component movement|negative regulation of epithelial cell proliferation|palate development|pathway-restricted SMAD protein phosphorylation|response to follicle-stimulating hormone stimulus|response to luteinizing hormone stimulus|response to prostaglandin E stimulus|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis external side of plasma membrane|extracellular space|inhibin-betaglycan-ActRII complex|integral to plasma membrane|intracellular membrane-bounded organelle coreceptor activity|heparin binding|PDZ domain binding|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type III|type II transforming growth factor beta receptor binding endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(24)|ovary(3)|prostate(4)|skin(1)|stomach(1)|urinary_tract(3) 55 all_lung(203;0.00719)|Lung NSC(277;0.0268) all cancers(265;0.0108)|Epithelial(280;0.0825) GGTGAACAGGGAAGCATCTCC 0.468000 15 319 0 0 1 0 0 TRO 7216 broad.mit.edu 37 X 54949024 54949024 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chrX:54949024C>T ENST00000173898.7 + 3 171 c.59C>T c.(58-60)cCc>cTc p.P20L TRO_ENST00000399736.1_Intron|TRO_ENST00000375022.4_Missense_Mutation_p.P20L|TRO_ENST00000375041.2_Intron|TRO_ENST00000319167.8_Missense_Mutation_p.P20L|TRO_ENST00000420798.2_Intron|TRO_ENST00000484031.1_Intron NM_001039705.1 NP_001034794.1 Q12816 TROP_HUMAN trophinin 20 embryo implantation|homophilic cell adhesion integral to plasma membrane breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|skin(2)|urinary_tract(1) 37 CCTCTGCCTCCCCCGGGGAGC 0.577000 5 21 0 0 1 0 0 ZIM2 23619 broad.mit.edu 37 19 57286790 57286790 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:57286790C>T ENST00000391708.3 - 12 1392 c.850G>A c.(850-852)Ggc>Agc p.G284S ZIM2_ENST00000599935.1_Missense_Mutation_p.G284S|AC006115.3_ENST00000595954.1_RNA|ZIM2_ENST00000601070.1_Missense_Mutation_p.G284S|ZIM2_ENST00000221722.5_Missense_Mutation_p.G284S|AC006115.3_ENST00000594400.1_RNA|AC006115.3_ENST00000597946.1_RNA|ZIM2_ENST00000593711.1_Missense_Mutation_p.G284S NM_001146326.1|NM_001146327.1 NP_001139798.1|NP_001139799.1 zinc finger, imprinted 2 NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0314) TCATCACTGCCATAGCTTCTT 0.448000 31 84 0 0 1 0 0 UGT1A9 54600 broad.mit.edu 37 2 234581069 234581069 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:234581069C>T ENST00000354728.4 + 1 571 c.489C>T c.(487-489)ctC>ctT p.L163L UGT1A10_ENST00000373445.1_Intron|UGT1A8_ENST00000373450.4_Intron|UGT1A10_ENST00000344644.5_Intron NM_021027.2 NP_066307.1 breast(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(3)|skin(2)|upper_aerodigestive_tract(1) 37 Breast(86;0.000766)|all_lung(227;0.00269)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0331)|Lung NSC(271;0.0459)|Lung SC(224;0.128) Epithelial(121;1.26e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000436)|Lung(119;0.00347)|LUSC - Lung squamous cell carcinoma(224;0.00757) ATTTCTCCCTCCCCTCCGTGG 0.433000 10 251 0 0 1 0 0 NEK5 341676 broad.mit.edu 37 13 52660461 52660461 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr13:52660461G>A ENST00000355568.4 - 16 1570 c.1431C>T c.(1429-1431)taC>taT p.Y477Y NM_199289.1 NP_954983.1 Q6P3R8 NEK5_HUMAN NIMA-related kinase 5 477 ATP binding|metal ion binding|protein serine/threonine kinase activity breast(5)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 39 Breast(56;0.00173)|Lung NSC(96;0.0168)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236) GBM - Glioblastoma multiforme(99;3.7e-08) TGTCATTGTGGTACTGTTGGC 0.353000 37 97 0 0 1 0 0 VWA3B 200403 broad.mit.edu 37 2 98916581 98916581 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:98916581G>A ENST00000477737.1 + 25 3526 c.3322G>A c.(3322-3324)Gga>Aga p.G1108R VWA3B_ENST00000490947.2_3'UTR NM_144992.4 NP_659429.4 Q502W6 VWA3B_HUMAN von Willebrand factor A domain containing 3B 1108 NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 70 GATACCCAAAGGATTTGACTT 0.388000 5 255 0 0 1 0 0 PYHIN1 149628 broad.mit.edu 37 1 158911818 158911818 + Nonsense_Mutation SNP C C T rs144716673 TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:158911818C>T ENST00000368140.1 + 5 876 c.631C>T c.(631-633)Cga>Tga p.R211* PYHIN1_ENST00000485134.1_3'UTR|PYHIN1_ENST00000392252.3_Nonsense_Mutation_p.R202*|PYHIN1_ENST00000368138.3_Nonsense_Mutation_p.R202*|PYHIN1_ENST00000392254.2_Nonsense_Mutation_p.R211* NM_152501.4|NM_198928.4|NM_198929.4 NP_689714.2|NP_945146.1|NP_945147.1 Q6K0P9 IFIX_HUMAN pyrin and HIN domain family, member 1 211 HIN-200. cell cycle nuclear speck breast(2)|endometrium(3)|large_intestine(10)|lung(32)|ovary(3)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 all_hematologic(112;0.0378) AAATATTTTCCGAGAAGACCC 0.373000 54 57 0 0 1 0 0 NEU4 129807 broad.mit.edu 37 2 242757982 242757982 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:242757982G>A ENST00000391969.2 + 5 1774 c.1063G>A c.(1063-1065)Ggg>Agg p.G355R NEU4_ENST00000404257.1_Missense_Mutation_p.G367R|NEU4_ENST00000405370.1_Missense_Mutation_p.G355R|NEU4_ENST00000407683.1_Missense_Mutation_p.G355R|NEU4_ENST00000325935.6_Missense_Mutation_p.G368R NM_001167602.1 NP_001161074.1 Q8WWR8 NEUR4_HUMAN sialidase 4 355 Pro-rich. lysosomal lumen|organelle inner membrane exo-alpha-sialidase activity|protein binding breast(1)|lung(10)|prostate(2)|skin(2) 15 all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244) Epithelial(32;3.84e-33)|all cancers(36;8.08e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.41e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0825) TGGGGTCAGTGGGGATGTGGG 0.726000 3 16 0 0 1 0 0 PPP6R1 22870 broad.mit.edu 37 19 55756762 55756762 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:55756762G>A ENST00000412770.2 - 4 989 c.423C>T c.(421-423)tcC>tcT p.S141S PPP6R1_ENST00000587283.1_Silent_p.S141S NM_014931.3 NP_055746.3 Q9UPN7 PP6R1_HUMAN protein phosphatase 6, regulatory subunit 1 141 Interaction with PPP6C. regulation of phosphoprotein phosphatase activity cytoplasm protein phosphatase binding breast(1) 1 TCCGAAGAAAGGACACGAGCT 0.667000 10 25 0 0 1 0 0 UBN2 254048 broad.mit.edu 37 7 138968739 138968739 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:138968739C>T ENST00000288561.8 + 15 3088 c.2839C>T c.(2839-2841)Ccc>Tcc p.P947S UBN2_ENST00000473989.2_Missense_Mutation_p.P1030S NM_173569.3 NP_775840.3 Q6ZU65 UBN2_HUMAN ubinuclein 2 1030 Ser-rich. NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 42 TTTCAAATCTCCCTTCTCGAT 0.557000 34 107 0 0 1 0 0 SPINK14 408187 broad.mit.edu 37 5 147549306 147549306 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:147549306C>T ENST00000356972.1 + 1 11 c.11C>T c.(10-12)tCt>tTt p.S4F SPINK14_ENST00000562793.1_Missense_Mutation_p.S4F NM_001001325.1 NP_001001325.1 Q6IE38 ISK14_HUMAN serine peptidase inhibitor, Kazal type 14 (putative) 4 extracellular region serine-type endopeptidase inhibitor activity p.S4Y(1) breast(1)|large_intestine(1)|lung(1) 3 ATGGCCAAATCTTTCCCAGTA 0.388000 16 38 0 0 1 0 0 ADCY1 107 broad.mit.edu 37 7 45697345 45697345 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:45697345G>A ENST00000297323.7 + 6 1190 c.1168G>A c.(1168-1170)Gag>Aag p.E390K ADCY1_ENST00000432715.1_Missense_Mutation_p.E165K NM_021116.2 NP_066939.1 Q08828 ADCY1_HUMAN adenylate cyclase 1 (brain) 390 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|plasma membrane ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1) 71 Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640) TGAAGCCACCGAGGTGGATCT 0.607000 3 36 0 0 1 0 0 KRTAP10-7 386675 broad.mit.edu 37 21 46020560 46020560 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr21:46020560G>A ENST00000380102.2 + 1 64 c.39G>A c.(37-39)ctG>ctA p.L13L TSPEAR_ENST00000323084.4_Intron NM_198689.2 NP_941962.1 P60409 KR107_HUMAN keratin associated protein 10-7 13 keratin filament breast(1)|large_intestine(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 8 CCAGCGACCTGAGCTACGGCA 0.622000 8 93 0 0 1 0 0 NME6 10201 broad.mit.edu 37 3 48336258 48336258 + Missense_Mutation SNP A A G TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:48336258A>G ENST00000421967.1 - 6 499 c.454T>C c.(454-456)Ttc>Ctc p.F152L NME6_ENST00000451657.1_Silent_p.P130P|NME6_ENST00000452211.1_Missense_Mutation_p.F144L|NME6_ENST00000426689.2_Missense_Mutation_p.F144L|NME6_ENST00000426723.1_Missense_Mutation_p.F77L|NME6_ENST00000447314.1_Missense_Mutation_p.F99L|NME6_ENST00000415053.1_Missense_Mutation_p.F144L|ZNF589_ENST00000412564.1_Intron|NME6_ENST00000450160.1_Silent_p.P130P|NME6_ENST00000415644.1_Missense_Mutation_p.F77L|NME6_ENST00000444069.1_5'UTR|NME6_ENST00000442597.1_Missense_Mutation_p.F144L|NME6_ENST00000435684.1_Silent_p.P130P NM_005793.3 NP_005784.1 O75414 NDK6_HUMAN NME/NM23 nucleoside diphosphate kinase 6 144 anti-apoptosis|apoptosis|CTP biosynthetic process|GTP biosynthetic process|negative regulation of cell growth|negative regulation of mitosis|UTP biosynthetic process mitochondrion ATP binding|metal ion binding|nucleoside diphosphate kinase activity breast(1)|large_intestine(5) 6 BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00609) TCAGGGAAGAAGGCTGCAATC 0.527000 5 116 0 0 1 0 0 ADCY7 113 broad.mit.edu 37 16 50335126 50335126 + Splice_Site SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr16:50335126G>A ENST00000394697.2 + 10 1708 c.e10+1 ADCY7_ENST00000566433.2_Splice_Site|ADCY7_ENST00000537579.1_Intron|ADCY7_ENST00000254235.3_Splice_Site|ADCY7_ENST00000538642.1_Splice_Site P51828 ADCY7_HUMAN adenylate cyclase 7 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to ethanol|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of cAMP biosynthetic process|synaptic transmission|transmembrane transport|water transport integral to membrane|plasma membrane adenylate cyclase activity|ATP binding|metal ion binding breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3) 35 all_cancers(37;0.0127) GBM - Glioblastoma multiforme(240;0.195) Bromocriptine(DB01200) CGACCCCCGGGTACGAGGGCT 0.682000 7 8 0 0 1 0 0 OR5L2 26338 broad.mit.edu 37 11 55595280 55595280 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:55595280G>A ENST00000378397.1 + 1 586 c.586G>A c.(586-588)Gag>Aag p.E196K NM_001004739.1 NP_001004739.1 Q8NGL0 OR5L2_HUMAN olfactory receptor, family 5, subfamily L, member 2 196 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.E196K(1) breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 59 all_epithelial(135;0.208) CACTGTGAATGAGACACTGCT 0.443000 HNSCC(27;0.073) 107 174 0 0 1 0 0 CAMK2N1 55450 broad.mit.edu 37 1 20811827 20811827 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:20811827C>T ENST00000375078.3 - 1 886 c.46G>A c.(46-48)Ggc>Agc p.G16S NM_018584.5 NP_061054.2 Q7Z7J9 CK2N1_HUMAN calcium/calmodulin-dependent protein kinase II inhibitor 1 16 cell junction|postsynaptic density|postsynaptic membrane|synaptosome lung(1) 1 Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000247)|Lung NSC(340;0.000285)|Breast(348;0.0013)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|COAD - Colon adenocarcinoma(152;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000132)|Kidney(64;0.00016)|GBM - Glioblastoma multiforme(114;0.00116)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.195) CCGCCGTCGCCGTAGGGGCTC 0.736000 9 6 0 0 1 0 0 CLMN 79789 broad.mit.edu 37 14 95669274 95669274 + Silent SNP A A G TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr14:95669274A>G ENST00000298912.4 - 9 2525 c.2412T>C c.(2410-2412)ggT>ggC p.G804G NM_024734.3 NP_079010.2 Q96JQ2 CLMN_HUMAN calmin (calponin-like, transmembrane) 804 integral to membrane actin binding central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(17)|prostate(3)|skin(3) 44 Epithelial(152;0.193) TGGTACCCACACCACCCCTGC 0.627000 41 75 0 0 1 0 0 KIAA1804 84451 broad.mit.edu 37 1 233518431 233518431 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:233518431G>A ENST00000366624.3 + 10 3346 c.3085G>A c.(3085-3087)Gaa>Aaa p.E1029K MLK4_ENST00000366622.1_Missense_Mutation_p.E475K NM_032435.2 NP_115811.2 ATCTATATATGAACTGGAGAA 0.423000 41 68 0 0 1 0 0 CDH8 1006 broad.mit.edu 37 16 61747793 61747793 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr16:61747793G>A ENST00000577390.1 - 10 2560 c.1606C>T c.(1606-1608)Ctt>Ttt p.L536F CDH8_ENST00000580044.1_5'UTR|CDH8_ENST00000299345.6_Missense_Mutation_p.L536F|CDH8_ENST00000577730.1_Missense_Mutation_p.L536F NM_001796.4 NP_001787.2 P55286 CADH8_HUMAN cadherin 8, type 2 536 Cadherin 5. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4) 112 Ovarian(137;0.0799)|Melanoma(118;0.16) UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249) ATTTCTGGAAGGAGACTGTAT 0.343000 26 29 0 0 1 0 0 GIMAP7 168537 broad.mit.edu 37 7 150217711 150217711 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:150217711G>A ENST00000313543.4 + 2 806 c.649G>A c.(649-651)Gaa>Aaa p.E217K NM_153236.3 NP_694968.1 Q8NHV1 GIMA7_HUMAN GTPase, IMAP family member 7 217 GTP binding breast(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1) 17 OV - Ovarian serous cystadenocarcinoma(82;0.0218) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) GAAACAACGGGAAGAGGTTTT 0.393000 6 108 0 0 1 0 0 NOTCH2 4853 broad.mit.edu 37 1 120459291 120459291 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:120459291G>A ENST00000256646.2 - 34 6273 c.6054C>T c.(6052-6054)gcC>gcT p.A2018A NM_024408.3 NP_077719.2 Q04721 NOTC2_HUMAN notch 2 2018 anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 158 all_neural(166;0.153) all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809) Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133) TCCCCTCCCGGGCAGCAAGAA 0.468000 """N, F, Mis""" """marginal zone lymphoma, DLBCL""" Alagille Syndrome 14 40 0 0 1 0 0 EFR3A 23167 broad.mit.edu 37 8 132962266 132962266 + Silent SNP T T C TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:132962266T>C ENST00000254624.5 + 5 642 c.417T>C c.(415-417)cgT>cgC p.R139R EFR3A_ENST00000519656.1_Silent_p.R103R|EFR3A_ENST00000334503.4_Silent_p.R139R NM_015137.4 NP_055952.2 Q14156 EFR3A_HUMAN EFR3 homolog A (S. cerevisiae) 139 plasma membrane binding breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|skin(1)|stomach(2) 35 Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000805)|LUAD - Lung adenocarcinoma(14;0.102) ATCACAGACGTTATGACTTTT 0.323000 12 27 0 0 1 0 0 ARID2 196528 broad.mit.edu 37 12 46211495 46211495 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:46211495C>T ENST00000334344.6 + 5 633 c.461C>T c.(460-462)tCg>tTg p.S154L ARID2_ENST00000422737.1_Missense_Mutation_p.S5L NM_152641.2 NP_689854.2 Q68CP9 ARID2_HUMAN AT rich interactive domain 2 (ARID, RFX-like) 154 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 116 Lung SC(27;0.192)|Renal(347;0.236) Lung NSC(34;0.106)|all_lung(34;0.22) OV - Ovarian serous cystadenocarcinoma(5;0.00691) GBM - Glioblastoma multiforme(48;0.0153) GACTTTAATTCGCCAAATGAT 0.343000 """N, S, F""" hepatocellular carcinoma 20 100 0 0 1 0 0 GPR128 84873 broad.mit.edu 37 3 100364866 100364866 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:100364866G>A ENST00000273352.3 + 9 1292 c.1024G>A c.(1024-1026)Gat>Aat p.D342N GPR128_ENST00000475887.1_Missense_Mutation_p.D47N NM_032787.2 NP_116176.2 Q96K78 GP128_HUMAN G protein-coupled receptor 128 342 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity p.D342N(1) NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 56 AGCTAAATCGGATTTTAGTCA 0.333000 25 57 0 0 1 0 0 WWC1 23286 broad.mit.edu 37 5 167891838 167891838 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:167891838G>A ENST00000265293.4 + 21 3523 c.3021G>A c.(3019-3021)caG>caA p.Q1007Q WWC1_ENST00000522140.1_3'UTR|WWC1_ENST00000521089.1_Silent_p.Q1013Q NM_001161661.1|NM_001161662.1|NM_015238.2 NP_001155133.1|NP_001155134.1|NP_056053.1 Q8IX03 KIBRA_HUMAN WW and C2 domain containing 1 1007 Interaction with histone H3. cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus|perinuclear region of cytoplasm|ruffle membrane protein binding|transcription coactivator activity breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4) 43 Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166) Medulloblastoma(196;0.0399)|all_neural(177;0.0577) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918) AATTGACCCAGGAGATCTCGG 0.607000 27 61 0 0 1 0 0 MZB1 51237 broad.mit.edu 37 5 138725399 138725399 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:138725399G>A ENST00000302125.8 - 1 204 c.147C>T c.(145-147)cgC>cgT p.R49R MZB1_ENST00000412103.2_5'UTR|MZB1_ENST00000457570.2_Silent_p.R49R NM_016459.3 NP_057543.2 Q8WU39 PERP1_HUMAN marginal zone B and B1 cell-specific protein 49 apoptosis|positive regulation of immunoglobulin biosynthetic process cytoplasm|endoplasmic reticulum chaperone complex protein binding AGGCATCACAGCGCAGGTGAG 0.637000 8 16 0 0 1 0 0 PIGO 84720 broad.mit.edu 37 9 35089104 35089104 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:35089104C>T ENST00000378617.3 - 11 3649 c.3255G>A c.(3253-3255)ctG>ctA p.L1085L PIGO_ENST00000341666.3_Silent_p.L1085L|PIGO_ENST00000361778.2_Silent_p.L668L|PIGO_ENST00000298004.5_Silent_p.L668L NM_032634.3 NP_116023.2 Q8TEQ8 PIGO_HUMAN phosphatidylinositol glycan anchor biosynthesis, class O 1085 C-terminal protein lipidation|preassembly of GPI anchor in ER membrane endoplasmic reticulum membrane|integral to membrane transferase activity endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3) 38 LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778) TCTGCTGGGCCAGAAATAGCT 0.537000 7 250 0 0 1 0 0 OR56A4 120793 broad.mit.edu 37 11 6023970 6023970 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:6023970G>A ENST00000330728.4 - 1 454 c.409C>T c.(409-411)Ctg>Ttg p.L137L NM_001005179.2 NP_001005179.2 Q8NGH8 O56A4_HUMAN olfactory receptor, family 56, subfamily A, member 4 85 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|skin(1)|urinary_tract(1) 32 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) AAGATGGCCAGGACCTTGGGG 0.567000 42 52 0 0 1 0 0 ZBTB21 49854 broad.mit.edu 37 21 43412061 43412061 + Missense_Mutation SNP G G A rs148103348 TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr21:43412061G>A ENST00000310826.5 - 3 2327 c.2144C>T c.(2143-2145)cCa>cTa p.P715L ZBTB21_ENST00000398511.3_Missense_Mutation_p.P715L|ZBTB21_ENST00000465968.1_Intron|ZBTB21_ENST00000398499.1_Missense_Mutation_p.P715L|ZBTB21_ENST00000398505.3_Intron NM_001098402.1 NP_001091872.1 zinc finger and BTB domain containing 21 GTTTTCTACTGGACTTGCAAG 0.478000 120 296 0 0 1 0 0 PPP1R2P1 100507444 broad.mit.edu 37 6 32847210 32847210 + RNA SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:32847210C>T ENST00000420261.1 - 0 415 CTTTTTTTCTCGTTCTTCAGG 0.418000 9 30 0 0 1 0 0 OTOGL 283310 broad.mit.edu 37 12 80730315 80730315 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:80730315G>A ENST00000458043.2 + 39 4702 c.4696G>A c.(4696-4698)Gaa>Aaa p.E1566K OTOGL_ENST00000547103.1_Missense_Mutation_p.E1554K NM_173591.3 NP_775862.3 otogelin-like breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1) 23 TGCTCATATCGAAAAATGTTC 0.333000 19 44 0 0 1 0 0 PRTG 283659 broad.mit.edu 37 15 55971519 55971519 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr15:55971519C>T ENST00000389286.4 - 7 1145 c.1098G>A c.(1096-1098)aaG>aaA p.K366K NM_173814.4 NP_776175.2 Q2VWP7 PRTG_HUMAN protogenin 366 Ig-like 4. multicellular organismal development integral to membrane breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 41 all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135) TCGAATGTATCTTCCTTCCAT 0.383000 23 39 0 0 1 0 0 ADAR 103 broad.mit.edu 37 1 154573698 154573698 + Nonsense_Mutation SNP G G A rs121912421 TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:154573698G>A ENST00000368474.4 - 2 1619 c.1420C>T c.(1420-1422)Cga>Tga p.R474* ADAR_ENST00000368471.3_Nonsense_Mutation_p.R179*|ADAR_ENST00000292205.5_Nonsense_Mutation_p.R517* NM_001111.4|NM_015840.3|NM_015841.3 NP_001102.2|NP_056655.2|NP_056656.2 P55265 DSRAD_HUMAN adenosine deaminase, RNA-specific 474 adenosine to inosine editing|gene silencing by RNA|mRNA modification|mRNA processing|type I interferon-mediated signaling pathway cytoplasm|nucleolus|nucleoplasm DNA binding|double-stranded RNA adenosine deaminase activity|metal ion binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(4)|prostate(2)|skin(2) 51 all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997) LUSC - Lung squamous cell carcinoma(543;0.185) Colorectal(1306;0.115) ATGATGGCTCGAAACTCACCT 0.527000 87 68 0 0 1 0 0 RIT2 6014 broad.mit.edu 37 18 40503583 40503583 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr18:40503583G>A ENST00000589109.1 - 4 551 c.380C>T c.(379-381)cCc>cTc p.P127L RIT2_ENST00000282028.4_Missense_Mutation_p.P127L|RIT2_ENST00000590910.1_Missense_Mutation_p.P148S|RIT2_ENST00000326695.5_Missense_Mutation_p.P127L NM_001272077.1 NP_001259006.1 Q99578 RIT2_HUMAN Ras-like without CAAX 2 127 nerve growth factor receptor signaling pathway|small GTPase mediated signal transduction|synaptic transmission intracellular|plasma membrane calmodulin binding|GTP binding|GTPase activity endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 CAGCACCAGGGGAATTTCATA 0.478000 128 261 0 0 1 0 0 TOMM40 10452 broad.mit.edu 37 19 45406309 45406309 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:45406309C>T ENST00000426677.2 + 9 1149 c.969C>T c.(967-969)atC>atT p.I323I TOMM40_ENST00000252487.5_Silent_p.I323I|TOMM40_ENST00000592434.1_3'UTR|TOMM40_ENST00000405636.2_Silent_p.I323I NM_001128917.1 NP_001122389.1 O96008 TOM40_HUMAN translocase of outer mitochondrial membrane 40 homolog (yeast) 323 protein targeting to mitochondrion integral to membrane of membrane fraction|integral to mitochondrial outer membrane|mitochondrial outer membrane translocase complex|pore complex porin activity|protein transmembrane transporter activity|voltage-gated anion channel activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|ovary(1) 5 Lung NSC(12;0.0018)|all_lung(12;0.00481) OV - Ovarian serous cystadenocarcinoma(262;0.0033)|Epithelial(262;0.176) GCAACTGGATCGTGGGTGCCA 0.587000 42 60 0 0 1 0 0 UTP15 84135 broad.mit.edu 37 5 72865359 72865359 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:72865359C>T ENST00000296792.4 + 5 661 c.406C>T c.(406-408)Cac>Tac p.H136Y UTP15_ENST00000508491.1_Missense_Mutation_p.H117Y|UTP15_ENST00000543251.1_5'UTR NM_032175.2 NP_115551.2 Q8TED0 UTP15_HUMAN UTP15, U3 small nucleolar ribonucleoprotein, homolog (S. cerevisiae) 136 rRNA processing cytoplasm|nucleolus endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(2) 15 Lung NSC(167;0.00405)|Ovarian(174;0.0129) OV - Ovarian serous cystadenocarcinoma(47;7.76e-55) TGACAAATATCACGTGGTCTC 0.328000 38 62 0 0 1 0 0 MAGI1 9223 broad.mit.edu 37 3 65377020 65377020 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:65377020C>T ENST00000330909.8 - 14 2212 c.2213G>A c.(2212-2214)aGg>aAg p.R738K MAGI1_ENST00000483466.1_Missense_Mutation_p.R738K|MAGI1_ENST00000497477.2_Missense_Mutation_p.R738K|MAGI1_ENST00000402939.2_Missense_Mutation_p.R738K NM_015520.1 NP_056335.1 Q96QZ7 MAGI1_HUMAN membrane associated guanylate kinase, WW and PDZ domain containing 1 738 cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly tight junction ATP binding|protein C-terminus binding breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5) 51 Lung NSC(201;0.0016) BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133) GCTGTCTTTCCTTTCCAGTGG 0.493000 29 47 0 0 1 0 0 CAMK2G 818 broad.mit.edu 37 10 75620596 75620596 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:75620596G>A ENST00000423381.1 - 3 335 c.212C>T c.(211-213)cCa>cTa p.P71L CAMK2G_ENST00000444854.2_Missense_Mutation_p.P71L|CAMK2G_ENST00000372765.1_Missense_Mutation_p.P71L|CAMK2G_ENST00000394762.2_Missense_Mutation_p.P71L|CAMK2G_ENST00000351293.3_Missense_Mutation_p.P71L|CAMK2G_ENST00000305762.7_Missense_Mutation_p.P71L|CAMK2G_ENST00000322680.3_Missense_Mutation_p.P71L|CAMK2G_ENST00000322635.3_Missense_Mutation_p.P71L|CAMK2G_ENST00000472912.1_5'UTR NM_001204492.1 NP_001191421.1 Q13555 KCC2G_HUMAN calcium/calmodulin-dependent protein kinase II gamma 71 Protein kinase. insulin secretion|interferon-gamma-mediated signaling pathway|synaptic transmission calcium- and calmodulin-dependent protein kinase complex|cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane ATP binding|calcium-dependent protein serine/threonine phosphatase activity|calmodulin binding|calmodulin-dependent protein kinase activity kidney(2)|large_intestine(2)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 15 Prostate(51;0.0112) ACCGATGTTTGGATGTTTCAG 0.443000 44 95 0 0 1 0 0 OR5K3 403277 broad.mit.edu 37 3 98110035 98110035 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:98110035C>T ENST00000383695.1 + 1 526 c.526C>T c.(526-528)Cat>Tat p.H176Y RP11-325B23.2_ENST00000508616.1_lincRNA NM_001005516.1 NP_001005516.1 A6NET4 OR5K3_HUMAN olfactory receptor, family 5, subfamily K, member 3 176 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|prostate(1)|skin(1)|urinary_tract(1) 27 TCAAATCAATCATTTTTTCTG 0.368000 60 98 0 0 1 0 0 MYH7 4625 broad.mit.edu 37 14 23884683 23884683 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr14:23884683C>T ENST00000355349.3 - 36 5352 c.5190G>A c.(5188-5190)atG>atA p.M1730I CTD-2201G16.1_ENST00000557368.1_RNA NM_000257.2 NP_000248.2 P12883 MYH7_HUMAN myosin, heavy chain 7, cardiac muscle, beta 1730 adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 137 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00725) GGTCAGCATCCATCTTCTTCT 0.542000 44 87 0 0 1 0 0 ECSIT 51295 broad.mit.edu 37 19 11625030 11625030 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:11625030G>A ENST00000270517.7 - 3 238 c.103C>T c.(103-105)Cgc>Tgc p.R35C ECSIT_ENST00000417981.2_Intron|ECSIT_ENST00000591104.1_Missense_Mutation_p.R35C|ECSIT_ENST00000592312.1_5'UTR|ECSIT_ENST00000588998.1_Intron|ECSIT_ENST00000252440.7_Missense_Mutation_p.R35C NM_016581.4 NP_057665.2 Q9BQ95 ECSIT_HUMAN ECSIT signalling integrator 35 innate immune response|regulation of oxidoreductase activity mitochondrion oxidoreductase activity, acting on NADH or NADPH|protein binding kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1) 11 GGGAGCCGGCGAGGGACCTGG 0.677000 11 20 0 0 1 0 0 GTF3C3 9330 broad.mit.edu 37 2 197657782 197657782 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:197657782C>T ENST00000263956.3 - 3 398 c.309G>A c.(307-309)gaG>gaA p.E103E GTF3C3_ENST00000409364.3_Silent_p.E103E NM_012086.4 NP_036218.1 Q9Y5Q9 TF3C3_HUMAN general transcription factor IIIC, polypeptide 3, 102kDa 103 Glu-rich. transcription factor TFIIIC complex DNA binding|protein binding p.E103E(1) breast(4)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 33 cctcctcctcctcttcttcct 0.468000 4 68 0 0 1 0 0 DCLK3 85443 broad.mit.edu 37 3 36763108 36763108 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:36763108C>T ENST00000416516.2 - 3 1985 c.1495G>A c.(1495-1497)Gat>Aat p.D499N DCLK3_ENST00000498047.1_5'UTR NM_033403.1 NP_208382.1 Q9C098 DCLK3_HUMAN doublecortin-like kinase 3 499 Protein kinase. cytoplasm|nucleus ATP binding|protein serine/threonine kinase activity breast(3)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 48 AGTCCAAAATCAGCCAATTTC 0.403000 44 77 0 0 1 0 0 FBL 2091 broad.mit.edu 37 19 40331144 40331144 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:40331144G>A ENST00000221801.3 - 3 306 c.193C>T c.(193-195)Cat>Tat p.H65Y NM_001436.3 NP_001427.2 P22087 FBRL_HUMAN fibrillarin 65 DMA/Gly-rich. rRNA processing|tRNA processing box C/D snoRNP complex|Cajal body methyltransferase activity|protein binding|RNA binding endometrium(1)|kidney(1)|large_intestine(4)|lung(2)|ovary(1) 9 all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06) Renal(1328;0.000518)|Hepatocellular(1079;0.0893) Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23) GBM - Glioblastoma multiforme(1328;0.000826)|STAD - Stomach adenocarcinoma(1328;0.138) CCACCAGAATGGAAGCCTCCA 0.577000 32 278 0 0 1 0 0 PKHD1L1 93035 broad.mit.edu 37 8 110408257 110408257 + Splice_Site SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:110408257G>A ENST00000378402.5 + 11 917 c.811_splice c.e11-1 p.E271_splice NM_177531.4 NP_803875.2 Q86WI1 PKHL1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 271 IPT/TIG 3. immune response cytosol|extracellular space|integral to membrane receptor activity NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4) 263 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) TTCCCCCAGAGGTCACCATGA 0.393000 HNSCC(38;0.096) 4 12 0 0 1 0 0 PDLIM1 9124 broad.mit.edu 37 10 97023727 97023727 + Nonsense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:97023727G>A ENST00000329399.6 - 4 535 c.427C>T c.(427-429)Cag>Tag p.Q143* PDLIM1_ENST00000477757.1_5'UTR NM_020992.2 NP_066272.1 O00151 PDLI1_HUMAN PDZ and LIM domain 1 143 response to oxidative stress cytoplasm|cytoskeleton zinc ion binding endometrium(1)|large_intestine(5)|lung(1)|ovary(1)|skin(2) 10 Colorectal(252;0.083) Epithelial(162;1.64e-06)|all cancers(201;3.71e-05) TTGTTGTACTGGTTTGTGATG 0.567000 30 54 0 0 1 0 0 CNTNAP2 26047 broad.mit.edu 37 7 146997283 146997283 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:146997283G>A ENST00000361727.3 + 9 1915 c.1399G>A c.(1399-1401)Gaa>Aaa p.E467K NM_014141.5 NP_054860.1 Q9UHC6 CNTP2_HUMAN contactin associated protein-like 2 467 Laminin G-like 2. behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex receptor binding NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3) 188 Melanoma(164;0.153) all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794) OV - Ovarian serous cystadenocarcinoma(82;0.0319) CCTAGCCAAGGAAAATTTTGC 0.413000 HNSCC(39;0.1) 44 146 0 0 1 0 0 SEMA3C 10512 broad.mit.edu 37 7 80427427 80427427 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:80427427G>A ENST00000265361.3 - 11 1673 c.1112C>T c.(1111-1113)cCa>cTa p.P371L SEMA3C_ENST00000419255.2_Missense_Mutation_p.P371L|SEMA3C_ENST00000544525.1_Missense_Mutation_p.P389L|SEMA3C_ENST00000536800.1_Missense_Mutation_p.P223L NM_006379.3 NP_006370.1 Q99985 SEM3C_HUMAN sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C 371 Sema. immune response|response to drug membrane receptor activity p.P371L(1) NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 34 GCGAGGATATGGAATTCTGCC 0.383000 41 110 0 0 1 0 0 DENND2C 163259 broad.mit.edu 37 1 115142881 115142881 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:115142881C>T ENST00000393274.1 - 15 2674 c.2049G>A c.(2047-2049)cgG>cgA p.R683R DENND2C_ENST00000393276.3_Silent_p.R626R|DENND2C_ENST00000481894.1_5'UTR|DENND2C_ENST00000393277.1_Intron NM_001256404.1 NP_001243333.1 Q68D51 DEN2C_HUMAN DENN/MADD domain containing 2C 683 DENN. NS(2)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|skin(3) 37 all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211) all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) AGGCACAGACCCGGATGAGAT 0.418000 32 49 0 0 1 0 0 POLD1 5424 broad.mit.edu 37 19 50905628 50905628 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:50905628C>T ENST00000440232.2 + 6 809 c.756C>T c.(754-756)atC>atT p.I252I POLD1_ENST00000599857.1_Silent_p.I252I|POLD1_ENST00000595904.1_Silent_p.I252I NM_001256849.1|NM_002691.3 NP_001243778.1|NP_002682.2 P28340 DPOD1_HUMAN polymerase (DNA directed), delta 1, catalytic subunit 252 base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|DNA synthesis involved in DNA repair|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|response to UV|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair delta DNA polymerase complex|nucleoplasm|nucleotide-excision repair complex 3'-5'-exodeoxyribonuclease activity|chromatin binding|DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding|protein binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 all_neural(266;0.0571) OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195) ACTTTGAGATCCGGTACGGCC 0.687000 DNA polymerases (catalytic subunits) 21 41 0 0 1 0 0 E2F3 1871 broad.mit.edu 37 6 20487000 20487000 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:20487000C>T ENST00000346618.3 + 5 1031 c.965C>T c.(964-966)cCa>cTa p.P322L E2F3_ENST00000535432.1_Missense_Mutation_p.P191L NM_001949.4 NP_001940.1 O00716 E2F3_HUMAN E2F transcription factor 3 322 Dimerization (Potential). G1 phase of mitotic cell cycle|G2 phase of mitotic cell cycle|transcription initiation from RNA polymerase II promoter transcription factor complex DNA binding|protein binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(3) 7 all_cancers(95;0.154)|all_epithelial(95;0.0585)|Breast(50;0.146)|Ovarian(93;0.148) OV - Ovarian serous cystadenocarcinoma(7;0.0068)|all cancers(50;0.0148)|Epithelial(50;0.0562) AAAGCCCCTCCAGAAACAAGA 0.388000 9 133 0 0 1 0 0 AXIN2 8313 broad.mit.edu 37 17 63533591 63533591 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:63533591G>A ENST00000307078.5 - 6 1876 c.1563C>T c.(1561-1563)caC>caT p.H521H AXIN2_ENST00000375702.5_Silent_p.H521H NM_004655.3 NP_004646.3 Q9Y2T1 AXIN2_HUMAN axin 2 521 cellular protein localization|cellular response to organic cyclic compound|dorsal/ventral axis specification|intramembranous ossification|maintenance of DNA repeat elements|mRNA stabilization|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of cell proliferation|negative regulation of osteoblast differentiation|odontogenesis|positive regulation of cell death|positive regulation of epithelial to mesenchymal transition|positive regulation of protein phosphorylation|regulation of centromeric sister chromatid cohesion|regulation of mismatch repair|Wnt receptor signaling pathway involved in somitogenesis Axin-APC-beta-catenin-GSK3B complex|cell cortex|centrosome|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|nucleus|plasma membrane|postsynaptic density armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding NS(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 34 GGACGGCATGGTGGTGGATGT 0.652000 Oligodontia, Ectodermal Dysplasia and Colorectal Polyp syndrome 41 143 0 0 1 0 0 MISP 126353 broad.mit.edu 37 19 761650 761650 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:761650G>A ENST00000215582.6 + 4 2040 c.1937G>A c.(1936-1938)gGt>gAt p.G646D NM_173481.2 NP_775752.1 mitotic spindle positioning CCCTCGGACGGTATCAACTCA 0.602000 35 58 0 0 1 0 0 COL12A1 1303 broad.mit.edu 37 6 75834000 75834000 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:75834000G>A ENST00000322507.8 - 41 7004 c.6695C>T c.(6694-6696)tCc>tTc p.S2232F COL12A1_ENST00000483888.2_Missense_Mutation_p.S2232F|COL12A1_ENST00000345356.6_Missense_Mutation_p.S1068F|COL12A1_ENST00000416123.2_Missense_Mutation_p.S2232F NM_004370.5 NP_004361.3 Q99715 COCA1_HUMAN collagen, type XII, alpha 1 2232 Fibronectin type-III 18. cell adhesion|collagen fibril organization|skeletal system development collagen type XII|extracellular space extracellular matrix structural constituent conferring tensile strength breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2) 169 TAGCCTGTAGGAGGTGGCTGC 0.373000 26 45 0 0 1 0 0 POFUT2 23275 broad.mit.edu 37 21 46689879 46689879 + Missense_Mutation SNP T T C TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr21:46689879T>C ENST00000331343.7 - 7 913 c.887A>G c.(886-888)aAa>aGa p.K296R POFUT2_ENST00000471540.1_5'UTR|POFUT2_ENST00000349485.5_Missense_Mutation_p.K296R NM_015227.4 NP_056042.1 Q9Y2G5 OFUT2_HUMAN protein O-fucosyltransferase 2 296 fucose metabolic process endoplasmic reticulum peptide-O-fucosyltransferase activity breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2) 20 Colorectal(79;0.243) GATGAAATCTTTTCTTCTCAG 0.577000 50 84 0 0 1 0 0 MUSK 4593 broad.mit.edu 37 9 113562887 113562887 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:113562887C>T ENST00000416899.2 + 13 2331 c.2205C>T c.(2203-2205)gaC>gaT p.D735D MUSK_ENST00000374448.4_Silent_p.D743D|MUSK_ENST00000189978.5_Silent_p.D743D O15146 MUSK_HUMAN muscle, skeletal, receptor tyrosine kinase 743 Protein kinase. transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3) 49 AAATTGCCGACTTTGGCCTCT 0.483000 93 207 0 0 1 0 0 KRT31 3881 broad.mit.edu 37 17 39553723 39553723 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:39553723G>A ENST00000251645.2 - 1 121 c.69C>T c.(67-69)ccC>ccT p.P23P NM_002277.2 NP_002268.2 Q15323 K1H1_HUMAN keratin 31 23 Head. epidermis development intermediate filament protein binding|structural constituent of cytoskeleton breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1) 31 Breast(137;0.000496) GGCAGCTGGGGGGCACGCAGG 0.662000 33 55 0 0 1 0 0 ARFGEF2 10564 broad.mit.edu 37 20 47614923 47614923 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr20:47614923C>T ENST00000371917.4 + 25 3313 c.3313C>T c.(3313-3315)Ccc>Tcc p.P1105S ARFGEF2_ENST00000493140.1_3'UTR NM_006420.2 NP_006411.2 Q9Y6D5 BIG2_HUMAN ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited) 1105 exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction cytosol|Golgi membrane ARF guanyl-nucleotide exchange factor activity breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 63 BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198) ACTGGCTTCCCCCCACCATCC 0.498000 54 87 0 0 1 0 0 GDF5 8200 broad.mit.edu 37 20 34021982 34021982 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr20:34021982C>T ENST00000374372.1 - 4 1734 c.1231G>A c.(1231-1233)Gac>Aac p.D411N GDF5_ENST00000374369.3_Missense_Mutation_p.D411N|GDF5OS_ENST00000374375.1_Missense_Mutation_p.S9F P43026 GDF5_HUMAN growth differentiation factor 5 411 cartilage development|cell-cell signaling|growth|transforming growth factor beta receptor signaling pathway extracellular space cytokine activity|growth factor activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(9)|skin(3) 26 Lung NSC(9;0.00642)|all_lung(11;0.0094) BRCA - Breast invasive adenocarcinoma(18;0.00663) CAGCCCATGTCCTTGAAGTTG 0.627000 76 127 0 0 1 0 0 SYT10 341359 broad.mit.edu 37 12 33559958 33559958 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:33559958C>T ENST00000228567.3 - 3 1139 c.843G>A c.(841-843)aaG>aaA p.K281K SYT10_ENST00000535526.1_Silent_p.K100K NM_198992.3 NP_945343.1 Q6XYQ8 SYT10_HUMAN synaptotagmin X 281 C2 1. cell junction|integral to membrane|synaptic vesicle membrane metal ion binding|transporter activity NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1) 42 Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334) TCTGAAATTTCTTTTTCCTAT 0.358000 51 46 0 0 1 0 0 ZDHHC8 29801 broad.mit.edu 37 22 20129035 20129035 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr22:20129035C>T ENST00000334554.7 + 9 1248 c.1107C>T c.(1105-1107)ttC>ttT p.F369F ZDHHC8_ENST00000320602.7_Silent_p.F277F|ZDHHC8_ENST00000405930.3_Silent_p.F369F|ZDHHC8_ENST00000468112.1_3'UTR NM_013373.3 NP_037505.1 Q9ULC8 ZDHC8_HUMAN zinc finger, DHHC-type containing 8 369 cytoplasmic vesicle membrane|integral to membrane acyltransferase activity|zinc ion binding breast(2)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(1)|lung(8)|ovary(1)|prostate(1) 20 Colorectal(54;0.0993) AGGTGCCCTTCTGTGGACCAG 0.677000 14 23 0 0 1 0 0 TIE1 7075 broad.mit.edu 37 1 43773157 43773157 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:43773157C>T ENST00000372476.3 + 6 906 c.827C>T c.(826-828)tCa>tTa p.S276L TIE1_ENST00000538015.1_Missense_Mutation_p.S276L|TIE1_ENST00000441333.2_Missense_Mutation_p.S276L|TIE1_ENST00000433781.2_5'UTR NM_001253357.1|NM_005424.4 NP_001240286.1|NP_005415.1 P35590 TIE1_HUMAN tyrosine kinase with immunoglobulin-like and EGF-like domains 1 276 EGF-like 2. mesoderm development integral to plasma membrane ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 70 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) CCAGGCATATCAGGCTGCCGG 0.612000 32 66 0 0 1 0 0 TMEM63B 55362 broad.mit.edu 37 6 44121528 44121528 + Silent SNP C C T rs141122022 TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:44121528C>T ENST00000259746.9 + 21 2241 c.2058C>T c.(2056-2058)gcC>gcT p.A686A TMEM63B_ENST00000323267.6_Silent_p.A686A Q5T3F8 TM63B_HUMAN transmembrane protein 63B 686 integral to membrane nucleotide binding|protein binding breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(2)|prostate(2)|stomach(4) 35 all_cancers(18;1.66e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00309)|Ovarian(13;0.0273) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0215) AGGTGGTGGCCGCGCCCATCC 0.607000 57 140 0 0 1 0 0 LHCGR 3973 broad.mit.edu 37 2 48915629 48915629 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:48915629C>T ENST00000294954.7 - 11 1328 c.1307G>A c.(1306-1308)gGg>gAg p.G436E LHCGR_ENST00000344775.3_Missense_Mutation_p.G374E|LHCGR_ENST00000405626.1_Missense_Mutation_p.G409E|STON1-GTF2A1L_ENST00000402114.2_Intron|LHCGR_ENST00000401907.1_Intron|LHCGR_ENST00000403273.1_3'UTR NM_000233.3 NP_000224.2 P22888 LSHR_HUMAN luteinizing hormone/choriogonadotropin receptor 436 male genitalia development|male gonad development endosome|integral to plasma membrane luteinizing hormone receptor activity NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(3)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 56 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032) GCACCCACTCCCTGTCTGCCA 0.498000 4 85 0 0 1 0 0 KCNQ3 3786 broad.mit.edu 37 8 133182583 133182583 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:133182583G>A ENST00000388996.4 - 8 1653 c.1233C>T c.(1231-1233)ttC>ttT p.F411F KCNQ3_ENST00000519445.1_Silent_p.F411F|KCNQ3_ENST00000521134.1_Silent_p.F291F NM_004519.3 NP_004510.1 O43525 KCNQ3_HUMAN potassium voltage-gated channel, KQT-like subfamily, member 3 411 axon guidance|synaptic transmission voltage-gated potassium channel complex voltage-gated potassium channel activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 70 Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000311) CCACTTGCCTGAAGAAAGGAA 0.547000 19 52 0 0 1 0 0 KALRN 8997 broad.mit.edu 37 3 124053173 124053173 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:124053173C>T ENST00000360013.3 + 9 1599 c.1472C>T c.(1471-1473)tCc>tTc p.S491F KALRN_ENST00000460856.1_Missense_Mutation_p.S491F|KALRN_ENST00000240874.3_Missense_Mutation_p.S491F NM_001024660.3 NP_001019831.2 O60229 KALRN_HUMAN kalirin, RhoGEF kinase 491 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport actin cytoskeleton|cytosol ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 83 CCTGGGAACTCCGAATCCCTC 0.567000 9 197 0 0 1 0 0 CXXC11 285093 broad.mit.edu 37 2 242814458 242814458 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:242814458G>A ENST00000343216.3 + 2 779 c.751G>A c.(751-753)Gat>Aat p.D251N NM_173821.2 NP_776182.2 Q14D33 CB085_HUMAN CXXC finger protein 11 251 integral to membrane CCTGTCTGGGGATTCAGTGGC 0.682000 47 63 0 0 1 0 0 AMPH 273 broad.mit.edu 37 7 38502633 38502633 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:38502633G>A ENST00000356264.2 - 10 1045 c.830C>T c.(829-831)cCa>cTa p.P277L AMPH_ENST00000325590.5_Missense_Mutation_p.P277L|AMPH_ENST00000428293.2_Missense_Mutation_p.P277L NM_001635.3 NP_001626.1 P49418 AMPH_HUMAN amphiphysin 277 endocytosis|synaptic transmission actin cytoskeleton|cell junction|synaptic vesicle membrane breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2) 62 TGTATGATTTGGACTTGCTGT 0.552000 48 113 0 0 1 0 0 RAB11FIP5 26056 broad.mit.edu 37 2 73316309 73316309 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:73316309G>A ENST00000258098.6 - 2 806 c.566C>T c.(565-567)cCc>cTc p.P189L RAB11FIP5_ENST00000493523.2_5'UTR NM_015470.2 NP_056285.1 Q9BXF6 RFIP5_HUMAN RAB11 family interacting protein 5 (class I) 189 protein transport mitochondrial outer membrane|recycling endosome membrane gamma-tubulin binding biliary_tract(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 23 CTTGCTGAAGGGAGACCTTGG 0.532000 118 242 0 0 1 0 0 CASP10 843 broad.mit.edu 37 2 202082418 202082418 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:202082418G>A ENST00000286186.6 + 10 1958 c.1523G>A c.(1522-1524)aGg>aAg p.R508K CASP10_ENST00000272879.5_Intron|CASP10_ENST00000492363.1_3'UTR|CASP10_ENST00000360132.3_3'UTR|CASP10_ENST00000346817.5_Missense_Mutation_p.R465K|CASP10_ENST00000448480.1_Intron|CASP10_ENST00000313728.7_Missense_Mutation_p.R441K NM_032977.3 NP_116759.2 Q92851 CASPA_HUMAN caspase 10, apoptosis-related cysteine peptidase 0 apoptosis|induction of apoptosis by extracellular signals|proteolysis cytosol|plasma membrane cysteine-type endopeptidase activity|identical protein binding|protein binding breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3) 27 TTCACACTAAGGAAAAAACTA 0.443000 76 143 0 0 1 0 0 TIAM1 7074 broad.mit.edu 37 21 32554888 32554888 + Missense_Mutation SNP C C T rs149675965 byFrequency TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr21:32554888C>T ENST00000286827.3 - 16 3208 c.2737G>A c.(2737-2739)Gat>Aat p.D913N TIAM1_ENST00000541036.1_Missense_Mutation_p.D853N NM_003253.2 NP_003244.2 Q13009 TIAM1_HUMAN T-cell lymphoma invasion and metastasis 1 913 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cell-cell junction|cytosol receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity p.D913Y(2) autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2) 115 GAGAGGAAATCTTTGAGCATA 0.552000 29 76 0 0 1 0 0 PXDN 7837 broad.mit.edu 37 2 1652160 1652160 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:1652160G>A ENST00000252804.4 - 17 3442 c.3392C>T c.(3391-3393)cCc>cTc p.P1131L NM_012293.1 NP_036425.1 Q92626 PXDN_HUMAN peroxidasin homolog (Drosophila) 1131 extracellular matrix organization|hydrogen peroxide catabolic process|immune response endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 112 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716) all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228) CAGCTGCGAGGGCACACGCAT 0.627000 20 58 0 0 1 0 0 OR8H2 390151 broad.mit.edu 37 11 55873004 55873004 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:55873004C>T ENST00000313503.1 + 1 486 c.486C>T c.(484-486)tcC>tcT p.S162S NM_001005200.1 NP_001005200.1 Q8N162 OR8H2_HUMAN olfactory receptor, family 8, subfamily H, member 2 162 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 61 Esophageal squamous(21;0.00693) ACGTGGTTTCCATGAGCAGAT 0.433000 HNSCC(53;0.14) 91 205 0 0 1 0 0 ITGB2 3689 broad.mit.edu 37 21 46306717 46306717 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr21:46306717G>A ENST00000397850.2 - 16 2633 c.2181C>T c.(2179-2181)atC>atT p.I727I ITGB2_ENST00000397857.1_Silent_p.I727I|ITGB2_ENST00000355153.4_Silent_p.I727I|ITGB2_ENST00000397854.3_Silent_p.I670I|ITGB2_ENST00000302347.5_Silent_p.I727I|ITGB2_ENST00000397852.1_Silent_p.I727I P05107 ITB2_HUMAN integrin, beta 2 (complement component 3 receptor 3 and 4 subunit) 727 apoptosis|blood coagulation|cell-cell signaling|cell-matrix adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|multicellular organismal development|neutrophil chemotaxis|regulation of cell shape|regulation of immune response|regulation of peptidyl-tyrosine phosphorylation integrin complex glycoprotein binding|protein kinase binding|receptor activity breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(4)|skin(3) 35 Colorectal(79;0.0669) Simvastatin(DB00641) CGCTCAGGTGGATCAGAGCCT 0.617000 31 83 0 0 1 0 0 THSD7A 221981 broad.mit.edu 37 7 11630187 11630187 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:11630187C>T ENST00000423059.3 - 4 1604 c.1353G>A c.(1351-1353)caG>caA p.Q451Q NM_015204.2 NP_056019.1 Q9UPZ6 THS7A_HUMAN thrombospondin, type I, domain containing 7A 451 TSP type-1 4. integral to membrane NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11) 113 UCEC - Uterine corpus endometrioid carcinoma (126;0.163) AGAGGGCCGTCTGGTTGCCGC 0.542000 HNSCC(18;0.044) 24 24 0 0 1 0 0 TMEM63C 57156 broad.mit.edu 37 14 77714746 77714746 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr14:77714746C>T ENST00000298351.4 + 19 1802 c.1658C>T c.(1657-1659)gCt>gTt p.A553V NM_020431.2 NP_065164.2 Q9P1W3 TM63C_HUMAN transmembrane protein 63C 553 integral to membrane breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(1) 23 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0342) ATCACGGCAGCTTTACTTGGC 0.567000 6 16 0 0 1 0 0 ARFGAP3 26286 broad.mit.edu 37 22 43243578 43243578 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr22:43243578G>A ENST00000263245.5 - 2 349 c.130C>T c.(130-132)Ctt>Ttt p.L44F PACSIN2_ENST00000496919.1_5'UTR|ARFGAP3_ENST00000429508.2_Missense_Mutation_p.L44F|ARFGAP3_ENST00000437119.2_Missense_Mutation_p.L44F NM_001142293.1|NM_014570.4 NP_001135765.1|NP_055385.3 Q9NP61 ARFG3_HUMAN ADP-ribosylation factor GTPase activating protein 3 44 Arf-GAP. intracellular protein transport|protein secretion|regulation of ARF GTPase activity|vesicle-mediated transport cytosol|Golgi membrane ARF GTPase activator activity|protein transporter activity|zinc ion binding breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1) 11 TCAATGCAAAGGAACACTCCA 0.398000 7 43 0 0 1 0 0 DNAH17 8632 broad.mit.edu 37 17 76437268 76437268 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:76437268C>T ENST00000389840.5 - 72 11624 c.11500G>A c.(11500-11502)Gaa>Aaa p.E3834K DNAH17_ENST00000585328.1_Missense_Mutation_p.E3843K|DNAH17_ENST00000586052.1_Intron dynein, axonemal, heavy chain 17 NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 116 BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656) CCCATCTTTTCCTCCACGAAG 0.622000 19 62 0 0 1 0 0 QRICH2 84074 broad.mit.edu 37 17 74290020 74290020 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:74290020G>A ENST00000262765.5 - 4 469 c.290C>T c.(289-291)tCt>tTt p.S97F NM_032134.1 NP_115510.1 Q9H0J4 QRIC2_HUMAN glutamine rich 2 97 protein binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4) 62 TTGCTTGGTAGAGTCTCCGCT 0.522000 42 168 0 0 1 0 0 DKK2 27123 broad.mit.edu 37 4 107845215 107845215 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:107845215C>T ENST00000285311.3 - 4 1381 c.676G>A c.(676-678)Gaa>Aaa p.E226K DKK2_ENST00000510463.1_Missense_Mutation_p.E180K|DKK2_ENST00000513208.1_Missense_Mutation_p.E126K NM_014421.2 NP_055236.1 Q9UBU2 DKK2_HUMAN dickkopf WNT signaling pathway inhibitor 2 226 DKK-type Cys-2. multicellular organismal development|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway extracellular space autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 32 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;6.34e-06) TGGAAAATTTCCAGCCCATGA 0.493000 64 118 0 0 1 0 0 RASGEF1C 255426 broad.mit.edu 37 5 179555583 179555583 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:179555583G>A ENST00000393371.2 - 4 762 c.466C>T c.(466-468)Cta>Tta p.L156L RASGEF1C_ENST00000522500.1_Silent_p.L5L|RASGEF1C_ENST00000519883.1_5'UTR|RASGEF1C_ENST00000361132.4_Silent_p.L156L Q8N431 RGF1C_HUMAN RasGEF domain family, member 1C 156 N-terminal Ras-GEF. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction intracellular guanyl-nucleotide exchange factor activity breast(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|stomach(1) 12 all_cancers(89;3.44e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137) all_cancers(40;0.0242)|Medulloblastoma(196;0.00498)|all_neural(177;0.0137) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) AGAGCCTGTAGGAGCTGATGC 0.607000 14 50 0 0 1 0 0 LOC150776 150776 broad.mit.edu 37 2 132277182 132277182 + RNA SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:132277182C>T ENST00000438378.2 + 0 2251 NR_026922.1 AACAGCAGCTCCCCGACTGCG 0.607000 16 49 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179571376 179571376 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:179571376C>T ENST00000589042.1 - 102 29449 c.29225G>A c.(29224-29226)gGa>gAa p.G9742E TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.G9425E|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G8498E|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000431752.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 9425 Ig-like 78. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) AACACGACCTCCTTGGTTCAG 0.443000 58 126 0 0 1 0 0 CMTM1 113540 broad.mit.edu 37 16 66600698 66600698 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr16:66600698C>T ENST00000379500.2 + 1 349 c.282C>T c.(280-282)ccC>ccT p.P94P CMTM1_ENST00000457188.2_Intron|CMTM1_ENST00000332695.7_Intron|CMTM1_ENST00000535705.1_Intron|CMTM1_ENST00000336328.6_Intron|CMTM1_ENST00000533666.1_Intron|CMTM1_ENST00000531885.1_Intron|CMTM1_ENST00000533953.1_Silent_p.P94P|CMTM1_ENST00000328020.6_Silent_p.P94P|CMTM1_ENST00000528324.1_Intron|CKLF-CMTM1_ENST00000527729.1_Intron NM_052999.3|NM_181268.2 NP_443725.3|NP_851785.2 Q8IZ96 CKLF1_HUMAN CKLF-like MARVEL transmembrane domain containing 1 160 MARVEL. chemotaxis extracellular space|integral to membrane cytokine activity breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2) 7 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0702)|Epithelial(162;0.222) TCCCACCCCCCACGCCCTCTG 0.627000 20 10 0 0 1 0 0 OR5K1 26339 broad.mit.edu 37 3 98189306 98189306 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:98189306G>A ENST00000332650.5 + 1 983 c.886G>A c.(886-888)Gaa>Aaa p.E296K NM_001004736.2 NP_001004736.2 Q8NHB7 OR5K1_HUMAN olfactory receptor, family 5, subfamily K, member 1 296 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(1)|large_intestine(4)|lung(21)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 GAGAAATAGGGAAGTAATAAG 0.303000 32 53 0 0 1 0 0 TCN1 6947 broad.mit.edu 37 11 59623366 59623366 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:59623366C>T ENST00000257264.3 - 6 1017 c.913G>A c.(913-915)Gac>Aac p.D305N TCN1_ENST00000532419.1_Intron NM_001062.3 NP_001053.2 P20061 TCO1_HUMAN transcobalamin I (vitamin B12 binding protein, R binder family) 305 cobalamin metabolic process|cobalamin transport|cobalt ion transport extracellular region cobalamin binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 29 all_epithelial(135;0.198) Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) CAAGAAGAGTCTTTGTTAATA 0.458000 31 101 0 0 1 0 0 DOPEY2 9980 broad.mit.edu 37 21 37605128 37605128 + Missense_Mutation SNP T T C TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr21:37605128T>C ENST00000399151.3 + 15 2462 c.2377T>C c.(2377-2379)Tgg>Cgg p.W793R NM_005128.2 NP_005119.2 Q9Y3R5 DOP2_HUMAN dopey family member 2 793 endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport Golgi membrane autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 TTTTCCATCTTGGCTGAAGTC 0.517000 6 142 0 0 1 0 0 PTPRN2 5799 broad.mit.edu 37 7 157691392 157691392 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:157691392C>T ENST00000389413.3 - 11 1777 c.1674G>A c.(1672-1674)ctG>ctA p.L558L PTPRN2_ENST00000404321.2_Silent_p.L610L|PTPRN2_ENST00000389416.4_Silent_p.L570L|PTPRN2_ENST00000409483.1_Silent_p.L549L|PTPRN2_ENST00000389418.4_Silent_p.L587L NM_130843.2 NP_570858.2 Q92932 PTPR2_HUMAN protein tyrosine phosphatase, receptor type, N polypeptide 2 587 integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1) 86 all_neural(206;0.181) all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132) OV - Ovarian serous cystadenocarcinoma(82;0.00463) STAD - Stomach adenocarcinoma(7;0.0875) GAAGAATTTTCAGTCCAGAGG 0.522000 7 419 0 0 1 0 0 SLCO1C1 53919 broad.mit.edu 37 12 20893206 20893206 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:20893206G>A ENST00000381552.1 + 12 2005 c.1637G>A c.(1636-1638)gGa>gAa p.G546E SLCO1C1_ENST00000266509.2_Missense_Mutation_p.G546E|SLCO1C1_ENST00000545102.1_Missense_Mutation_p.G428E|SLCO1C1_ENST00000545604.1_Missense_Mutation_p.G546E|SLCO1C1_ENST00000540354.1_Missense_Mutation_p.G497E Q9NYB5 SO1C1_HUMAN solute carrier organic anion transporter family, member 1C1 546 sodium-independent organic anion transport integral to membrane|plasma membrane thyroid hormone transmembrane transporter activity NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 60 Esophageal squamous(101;0.149) AAAGACAATGGATGTCCCCAA 0.398000 41 106 0 0 1 0 0 ORAI2 80228 broad.mit.edu 37 7 102087093 102087093 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:102087093C>T ENST00000356387.2 + 4 594 c.359C>T c.(358-360)cCc>cTc p.P120L ORAI2_ENST00000488996.1_3'UTR|ORAI2_ENST00000473939.1_Missense_Mutation_p.P120L|ORAI2_ENST00000478730.1_Missense_Mutation_p.P120L|ORAI2_ENST00000403646.3_Missense_Mutation_p.P120L NM_001126340.1|NM_001271818.1|NM_001271819.1|NM_032831.3 NP_001119812.1|NP_001258747.1|NP_001258748.1|NP_116220.1 Q96SN7 ORAI2_HUMAN ORAI calcium release-activated calcium modulator 2 120 integral to membrane protein binding autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|lung(4)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 15 TGCATCCTGCCCAATGTGGAG 0.637000 72 197 0 0 1 0 0 LARGE 9215 broad.mit.edu 37 22 33777939 33777939 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr22:33777939G>A ENST00000354992.2 - 10 1668 c.1097C>T c.(1096-1098)tCc>tTc p.S366F LARGE_ENST00000337431.2_Missense_Mutation_p.S366F|LARGE_ENST00000452586.2_Missense_Mutation_p.S165F|LARGE_ENST00000437602.2_Missense_Mutation_p.S366F|LARGE_ENST00000402320.1_Missense_Mutation_p.S366F|LARGE_ENST00000397394.2_Missense_Mutation_p.S366F NM_004737.4 NP_004728.1 O95461 LARGE_HUMAN like-glycosyltransferase 366 glycosphingolipid biosynthetic process|muscle cell homeostasis|N-acetylglucosamine metabolic process|protein glycosylation integral to Golgi membrane acetylglucosaminyltransferase activity breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 Lung NSC(1;0.219) GCACTGCTCGGAGCGGGTGTG 0.562000 38 101 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9045976 9045976 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:9045976C>T ENST00000397910.4 - 5 35858 c.35655G>A c.(35653-35655)gaG>gaA p.E11885E NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 11887 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 TCGTGCTGGTCTCTGCTGAAG 0.502000 55 134 0 0 1 0 0 OR4D11 219986 broad.mit.edu 37 11 59271395 59271395 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:59271395C>T ENST00000313253.1 + 1 347 c.347C>T c.(346-348)tCt>tTt p.S116F NM_001004706.1 NP_001004706.1 Q8NGI4 OR4DB_HUMAN olfactory receptor, family 4, subfamily D, member 11 116 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 29 TTTTCTCTCTCTGTGATGGCG 0.488000 53 159 0 0 1 0 0 GJD2 57369 broad.mit.edu 37 15 35046686 35046686 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr15:35046686C>T ENST00000290374.4 - 1 480 c.4G>A c.(4-6)Ggg>Agg p.G2R NM_020660.2 NP_065711.1 Q9UKL4 CXD2_HUMAN gap junction protein, delta 2, 36kDa 2 synaptic transmission connexon complex|integral to membrane gap junction channel activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|urinary_tract(1) 19 all_lung(180;9.67e-07) all cancers(64;2.75e-18)|GBM - Glioblastoma multiforme(113;1.9e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0156) GTCCATTCCCCCATCGCTGTG 0.667000 22 69 0 0 1 0 0 BAHCC1 57597 broad.mit.edu 37 17 79411763 79411763 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:79411763C>T ENST00000307745.7 + 12 2582 c.2582C>T c.(2581-2583)cCc>cTc p.P861L GGCCCTGTGCCCTCTGTCTTC 0.716000 19 74 0 0 1 0 0 GPR112 139378 broad.mit.edu 37 X 135427512 135427512 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chrX:135427512G>A ENST00000394143.1 + 6 1938 c.1647G>A c.(1645-1647)tcG>tcA p.S549S GPR112_ENST00000412101.1_Silent_p.S344S|GPR112_ENST00000287534.4_Silent_p.S486S|GPR112_ENST00000394141.1_Silent_p.S344S|GPR112_ENST00000370652.1_Silent_p.S549S NM_153834.3 NP_722576.3 Q8IZF6 GP112_HUMAN G protein-coupled receptor 112 549 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2) 199 Acute lymphoblastic leukemia(192;0.000127) CTTCCATGTCGAAAGAGACCT 0.433000 45 19 0 0 1 0 0 UNC13A 23025 broad.mit.edu 37 19 17732644 17732644 + Missense_Mutation SNP T T A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:17732644T>A ENST00000428389.2 - 38 4502 c.4503A>T c.(4501-4503)gaA>gaT p.E1501D UNC13A_ENST00000552293.1_Intron|UNC13A_ENST00000550896.1_Intron|UNC13A_ENST00000551649.1_Missense_Mutation_p.E1413D|UNC13A_ENST00000519716.2_Missense_Mutation_p.E1413D|UNC13A_ENST00000252773.7_Missense_Mutation_p.E1413D Q9UPW8 UN13A_HUMAN unc-13 homolog A (C. elegans) 1413 MHD2. exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2) 61 TCATTACCTTTTCTAATCCCT 0.557000 5 142 0 0 1 0 0 GIMAP8 155038 broad.mit.edu 37 7 150171208 150171208 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:150171208G>A ENST00000307271.3 + 4 1365 c.791G>A c.(790-792)gGa>gAa p.G264E NM_175571.2 NP_783161.1 Q8ND71 GIMA8_HUMAN GTPase, IMAP family member 8 264 endoplasmic reticulum|Golgi apparatus|mitochondrion GTP binding breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1) 62 OV - Ovarian serous cystadenocarcinoma(82;0.0218) UCEC - Uterine corpus endometrioid carcinoma (81;0.17) AGTGCAGCAGGAAACAGCATT 0.532000 34 142 0 0 1 0 0 ACCSL 390110 broad.mit.edu 37 11 44080120 44080120 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:44080120G>A ENST00000378832.1 + 13 1551 c.1495G>A c.(1495-1497)Gaa>Aaa p.E499K NM_001031854.2 NP_001027025.2 Q4AC99 1A1L2_HUMAN 1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)-like 499 1-aminocyclopropane-1-carboxylate synthase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(14)|ovary(5)|pancreas(1)|skin(2) 34 TACATTTGAAGAAGAACGGCT 0.527000 64 151 0 0 1 0 0 ZNF667 63934 broad.mit.edu 37 19 56972063 56972063 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:56972063G>A ENST00000591790.1 - 3 1583 c.155C>T c.(154-156)tCg>tTg p.S52L ZNF667_ENST00000292069.6_Missense_Mutation_p.S52L|ZNF667_ENST00000504904.3_Missense_Mutation_p.S52L|ZNF667_ENST00000342634.3_Missense_Mutation_p.S145L Q5HYK9 ZN667_HUMAN zinc finger protein 667 52 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.S52L(1) breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3) 38 Colorectal(82;0.000256)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0615) CTTACCAAGCGAGACCAGGTT 0.502000 35 68 0 0 1 0 0 TRAIP 10293 broad.mit.edu 37 3 49869456 49869456 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:49869456G>A ENST00000331456.2 - 11 1043 c.930C>T c.(928-930)ttC>ttT p.F310F TRAIP_ENST00000469027.1_Silent_p.F155F NM_005879.2 NP_005870.2 Q9BWF2 TRAIP_HUMAN TRAF interacting protein 310 Interaction with CYLD. cell proliferation|induction of apoptosis perinuclear region of cytoplasm protein binding|zinc ion binding breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 24 BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) TATCATCACGGAAGGATGGCC 0.547000 33 84 0 0 1 0 0 IGFN1 91156 broad.mit.edu 37 1 201182474 201182474 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:201182474G>A ENST00000335211.4 + 12 8583 c.8453G>A c.(8452-8454)aGg>aAg p.R2818K IGFN1_ENST00000295591.8_5'UTR|IGFN1_ENST00000451870.2_Intron NM_001164586.1 NP_001158058.1 immunoglobulin-like and fibronectin type III domain containing 1 autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 CTCAGGAGCAGGTCTCAGGCA 0.627000 12 26 0 0 1 0 0 ABCA8 10351 broad.mit.edu 37 17 66928608 66928608 + Silent SNP T T C TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:66928608T>C ENST00000269080.2 - 6 755 c.618A>G c.(616-618)ggA>ggG p.G206G ABCA8_ENST00000430352.2_Silent_p.G206G|ABCA8_ENST00000586539.1_Silent_p.G206G NM_007168.2 NP_009099.1 O94911 ABCA8_HUMAN ATP-binding cassette, sub-family A (ABC1), member 8 206 integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4) 83 Breast(10;4.56e-13) TCATATTTTTTCCAGTAACTG 0.343000 7 147 0 0 1 0 0 IGLV3-12 28802 broad.mit.edu 37 22 23114963 23114963 + RNA SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr22:23114963C>T ENST00000390313.2 + 0 244 GATCCCTGAGCGATTCTCTGG 0.567000 20 52 0 0 1 0 0 ZNF776 284309 broad.mit.edu 37 19 58265460 58265460 + Missense_Mutation SNP A A T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:58265460A>T ENST00000317178.5 + 3 1225 c.962A>T c.(961-963)gAa>gTa p.E321V ZNF776_ENST00000489376.1_3'UTR NM_173632.3 NP_775903.3 zinc finger protein 776 cervix(1)|endometrium(2)|kidney(13)|large_intestine(3)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 31 Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0256) AGACCTTATGAATGTGACGAA 0.443000 42 106 0 0 1 0 0 TNR 7143 broad.mit.edu 37 1 175323599 175323599 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:175323599C>T ENST00000367674.1 - 18 4018 c.3310G>A c.(3310-3312)Gac>Aac p.D1104N TNR_ENST00000263525.2_Missense_Mutation_p.D1104N NM_003285.2 NP_003276.3 Q92752 TENR_HUMAN tenascin R 1104 Fibronectin type-III 9. axon guidance|cell adhesion|signal transduction proteinaceous extracellular matrix NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 177 Renal(580;0.146) ACCGTGTAGTCTGTGTTCTCC 0.562000 51 64 0 0 1 0 0 DARC 2532 broad.mit.edu 37 1 159175806 159175806 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:159175806G>A ENST00000537147.1 + 3 1420 c.577G>A c.(577-579)Gga>Aga p.G193R DARC_ENST00000368121.2_Missense_Mutation_p.G195R|DARC_ENST00000368122.2_Missense_Mutation_p.G193R Q16570 DUFFY_HUMAN Duffy blood group, atypical chemokine receptor 193 defense response integral to membrane|plasma membrane C-C chemokine binding|chemokine receptor activity large_intestine(2)|lung(1)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 8 all_hematologic(112;0.0429) TGCTTCTGGTGGACTCTGCAC 0.577000 41 33 0 0 1 0 0 TIPARP 25976 broad.mit.edu 37 3 156395820 156395820 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:156395820C>T ENST00000461166.1 + 2 922 c.334C>T c.(334-336)Cct>Tct p.P112S TIPARP_ENST00000486483.1_Missense_Mutation_p.P112S|TIPARP_ENST00000295924.7_Missense_Mutation_p.P112S|TIPARP_ENST00000542783.1_Missense_Mutation_p.P112S NM_001184717.1 NP_001171646.1 Q7Z3E1 PARPT_HUMAN TCDD-inducible poly(ADP-ribose) polymerase 112 NAD+ ADP-ribosyltransferase activity|nucleic acid binding|protein binding|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(2) 23 LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465) TGTTCTGATTCCTGATAGGAC 0.443000 10 174 0 0 1 0 0 VPS13B 157680 broad.mit.edu 37 8 100829870 100829870 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:100829870C>T ENST00000358544.2 + 45 8386 c.8275C>T c.(8275-8277)Cgg>Tgg p.R2759W VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Missense_Mutation_p.R2734W NM_017890.4 NP_060360.3 Q7Z7G8 VP13B_HUMAN vacuolar protein sorting 13 homolog B (yeast) 2759 protein transport NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9) 193 Breast(36;3.73e-07) OV - Ovarian serous cystadenocarcinoma(57;0.00636) AGCTGTAGTTCGGGAACATTT 0.418000 25 130 0 0 1 0 0 ZNF880 400713 broad.mit.edu 37 19 52887952 52887952 + Silent SNP C C T rs77886189 TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:52887952C>T ENST00000422689.2 + 4 1134 c.1119C>T c.(1117-1119)atC>atT p.I373I NM_001145434.1 NP_001138906.1 Q6PDB4 ZN880_HUMAN zinc finger protein 880 373 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|skin(1) 10 ATCAAAGAATCCATACTGGAG 0.398000 16 34 0 0 1 0 0 HIST1H3B 8358 broad.mit.edu 37 6 26031949 26031949 + Missense_Mutation SNP G G T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:26031949G>T ENST00000244661.2 - 1 339 c.340C>A c.(340-342)Cat>Aat p.H114N NM_003537.3 NP_003528.1 P68431 H31_HUMAN histone cluster 1, H3b 114 blood coagulation|nucleosome assembly|regulation of gene silencing|S phase nucleoplasm|nucleosome DNA binding|protein binding breast(3)|central_nervous_system(10)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(1) 25 CGCTTAGCATGGATGGCGCAA 0.517000 43 144 2.95478e-19 2.98366e-19 1 1 0 ATP2B2 491 broad.mit.edu 37 3 10417157 10417157 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:10417157C>T ENST00000397077.1 - 10 1813 c.1238G>A c.(1237-1239)gGg>gAg p.G413E ATP2B2_ENST00000352432.4_Missense_Mutation_p.G458E|ATP2B2_ENST00000343816.4_Missense_Mutation_p.G444E|ATP2B2_ENST00000383800.4_Missense_Mutation_p.G413E|ATP2B2_ENST00000360273.2_Missense_Mutation_p.G458E Q01814 AT2B2_HUMAN ATPase, Ca++ transporting, plasma membrane 2 458 ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation cytosol|integral to membrane|plasma membrane ATP binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2) 74 CAGAGGGAGCCCCTCGGGCAC 0.627000 31 55 0 0 1 0 0 PTCH1 5727 broad.mit.edu 37 9 98211496 98211496 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:98211496G>A ENST00000430669.2 - 22 4046 c.3461C>T c.(3460-3462)tCc>tTc p.S1154F PTCH1_ENST00000375274.2_Missense_Mutation_p.S1219F|PTCH1_ENST00000331920.6_Missense_Mutation_p.S1220F|PTCH1_ENST00000421141.1_Missense_Mutation_p.S1069F|PTCH1_ENST00000437951.1_Missense_Mutation_p.S1154F|PTCH1_ENST00000429896.2_Missense_Mutation_p.S1069F|PTCH1_ENST00000418258.1_Missense_Mutation_p.S1069F Q13635 PTC1_HUMAN patched 1 1220 embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway integral to plasma membrane hedgehog receptor activity NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1) 490 Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136) CGAGTCGGAGGAATCAGACCC 0.687000 8 13 0 0 1 0 0 LRRIQ3 127255 broad.mit.edu 37 1 74507403 74507403 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:74507403C>T ENST00000354431.4 - 7 1403 c.1212G>A c.(1210-1212)atG>atA p.M404I LRRIQ3_ENST00000395089.1_Missense_Mutation_p.M404I NM_001105659.1 NP_001099129.1 A6PVS8 LRIQ3_HUMAN leucine-rich repeats and IQ motif containing 3 404 NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5) 73 AAAACTCTTTCATACTCCGCT 0.353000 45 86 0 0 1 0 0 SLC22A10 387775 broad.mit.edu 37 11 63057850 63057850 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:63057850C>T ENST00000332793.6 + 1 215 c.213C>T c.(211-213)gcC>gcT p.A71A SLC22A10_ENST00000535888.1_Intron|SLC22A10_ENST00000526800.1_Silent_p.A19A|SLC22A10_ENST00000525620.1_Intron|SLC22A10_ENST00000544661.1_5'UTR NM_001039752.3 NP_001034841.3 Q63ZE4 S22AA_HUMAN solute carrier family 22, member 10 71 integral to membrane transmembrane transporter activity breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 GTGAAGATGCCCTCTTGAGAA 0.488000 41 107 0 0 1 0 0 ASXL2 55252 broad.mit.edu 37 2 25966368 25966368 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:25966368G>A ENST00000435504.4 - 13 3131 c.2838C>T c.(2836-2838)atC>atT p.I946I ASXL2_ENST00000272341.4_Intron|ASXL2_ENST00000336112.4_Silent_p.I918I|ASXL2_ENST00000404843.1_Intron Q76L83 ASXL2_HUMAN additional sex combs like 2 (Drosophila) 946 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|protein binding NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3) 33 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TATTAGCAGGGATACTAGAGG 0.453000 119 256 0 0 1 0 0 C7orf60 154743 broad.mit.edu 37 7 112462278 112462278 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:112462278G>A ENST00000297145.4 - 5 904 c.739C>T c.(739-741)Ctt>Ttt p.L247F NM_152556.2 NP_689769.2 Q1RMZ1 CG060_HUMAN chromosome 7 open reading frame 60 247 breast(1)|endometrium(2)|lung(7)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1) 17 AAATAAGAAAGAAGGAGAGAG 0.398000 21 73 0 0 1 0 0 CD33 945 broad.mit.edu 37 19 51729593 51729593 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:51729593C>T ENST00000436584.2 + 3 400 c.345C>T c.(343-345)atC>atT p.I115I CD33_ENST00000391796.3_Silent_p.I242I|CD33_ENST00000262262.4_Silent_p.I242I|CD33_ENST00000421133.2_Silent_p.I115I P20138 CD33_HUMAN CD33 molecule 242 Ig-like V-type. cell adhesion|cell-cell signaling|negative regulation of cell proliferation external side of plasma membrane|integral to plasma membrane receptor activity|sugar binding NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(15)|skin(1)|stomach(1) 24 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.000224)|OV - Ovarian serous cystadenocarcinoma(262;0.00468) Gemtuzumab ozogamicin(DB00056) CAACTGGTATCTTTCCAGGAG 0.507000 45 72 0 0 1 0 0 GRINA 2907 broad.mit.edu 37 8 145066748 145066748 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:145066748C>T ENST00000313269.5 + 6 1216 c.938C>T c.(937-939)gCc>gTc p.A313V GRINA_ENST00000395068.4_Missense_Mutation_p.A313V NM_000837.1 NP_000828.1 Q7Z429 GRINA_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate-associated protein 1 (glutamate binding) 313 integral to membrane central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|stomach(1) 9 all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) ATCGTGTACGCCTCACTGGGC 0.612000 23 43 0 0 1 0 0 BMP7 655 broad.mit.edu 37 20 55758782 55758782 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr20:55758782C>T ENST00000395863.3 - 4 1459 c.954G>A c.(952-954)gtG>gtA p.V318V BMP7_ENST00000450594.2_Silent_p.V318V|BMP7_ENST00000395864.3_Intron|BMP7_ENST00000460817.1_5'UTR NM_001719.2 NP_001710.1 P18075 BMP7_HUMAN bone morphogenetic protein 7 318 BMP signaling pathway|cartilage development|cellular response to hypoxia|epithelial to mesenchymal transition|growth|mesonephros development|negative regulation of glomerular mesangial cell proliferation|negative regulation of MAP kinase activity|negative regulation of mitosis|negative regulation of neuron differentiation|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of phosphorylation|negative regulation of striated muscle cell apoptosis|negative regulation of transcription, DNA-dependent|ossification|pathway-restricted SMAD protein phosphorylation|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|protein localization to nucleus|regulation of removal of superoxide radicals|SMAD protein signal transduction|steroid hormone mediated signaling pathway|ureteric bud development extracellular space cytokine activity|growth factor activity endometrium(4)|kidney(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1) 20 all_lung(29;0.0133)|Melanoma(10;0.242) BRCA - Breast invasive adenocarcinoma(4;2.49e-13)|Epithelial(14;1.74e-08)|all cancers(14;2.05e-07) GCATACCTGCCACGTTGGCCA 0.632000 61 86 0 0 1 0 0 CHD7 55636 broad.mit.edu 37 8 61693755 61693755 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:61693755C>T ENST00000423902.2 + 3 2341 c.1862C>T c.(1861-1863)cCt>cTt p.P621L CHD7_ENST00000525508.1_Missense_Mutation_p.P621L|CHD7_ENST00000524602.1_Intron NM_017780.3 NP_060250.2 Q9P2D1 CHD7_HUMAN chromodomain helicase DNA binding protein 7 621 Lys-rich. central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent nucleus ATP binding|chromatin binding|DNA binding|helicase activity p.556_871dup(1) NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3) 123 all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477) BRCA - Breast invasive adenocarcinoma(89;0.143) GATGACTTCCCTGGTGGGGTA 0.398000 8 19 0 0 1 0 0 MYO16 23026 broad.mit.edu 37 13 109507872 109507872 + Nonsense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr13:109507872C>T ENST00000356711.2 + 11 1390 c.1264C>T c.(1264-1266)Cag>Tag p.Q422* MYO16_ENST00000251041.5_Nonsense_Mutation_p.Q422*|MYO16_ENST00000357550.2_Nonsense_Mutation_p.Q422* NM_015011.1 NP_055826.1 Q9Y6X6 MYO16_HUMAN myosin XVI 422 Myosin head-like 1. cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane actin filament binding|ATP binding|motor activity NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 121 all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104) BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201) CTATGAGATTCAGAAGCGCTT 0.483000 27 20 0 0 1 0 0 ADAMTS9 56999 broad.mit.edu 37 3 64666921 64666921 + Missense_Mutation SNP G G A rs111443323 TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:64666921G>A ENST00000498707.1 - 3 977 c.635C>T c.(634-636)cCc>cTc p.P212L ADAMTS9_ENST00000459780.1_Missense_Mutation_p.P212L|ADAMTS9_ENST00000295903.4_Missense_Mutation_p.P212L NM_182920.1 NP_891550.1 Q9P2N4 ATS9_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 9 212 glycoprotein catabolic process|multicellular organismal development|proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 100 Lung NSC(201;0.00682) BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221) CTCTCTCTGGGGGGCGCTGCG 0.463000 27 47 0 0 1 0 0 UBR2 23304 broad.mit.edu 37 6 42643919 42643919 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:42643919C>T ENST00000372901.1 + 39 4635 c.4377C>T c.(4375-4377)acC>acT p.T1459T UBR2_ENST00000372883.3_Intron|UBR2_ENST00000372899.1_Silent_p.T1459T Q8IWV8 UBR2_HUMAN ubiquitin protein ligase E3 component n-recognin 2 1459 cellular response to leucine|chromatin silencing|histone H2A ubiquitination|negative regulation of TOR signaling cascade nucleus|plasma membrane leucine binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5) 64 Colorectal(47;0.196) Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196) TCTTACTTACCTCATGTACAG 0.388000 7 401 0 0 1 0 0 BBS10 79738 broad.mit.edu 37 12 76740252 76740252 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:76740252G>A ENST00000393262.3 - 2 1596 c.1513C>T c.(1513-1515)Ccg>Tcg p.P505S NM_024685.3 NP_078961.3 Q8TAM1 BBS10_HUMAN Bardet-Biedl syndrome 10 505 cellular protein metabolic process|nonmotile primary cilium assembly|photoreceptor cell maintenance|response to stimulus|retina homeostasis cilium ATP binding endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1) 19 GTTGAATACGGAATATATGTT 0.343000 Bardet-Biedl syndrome 14 204 0 0 1 0 0 DQX1 165545 broad.mit.edu 37 2 74747081 74747081 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:74747081G>A ENST00000404568.3 - 9 1795 c.1576C>T c.(1576-1578)Cac>Tac p.H526Y DQX1_ENST00000393951.2_Missense_Mutation_p.H526Y NM_133637.2 NP_598376.2 Q8TE96 DQX1_HUMAN DEAQ box RNA-dependent ATPase 1 526 nucleus ATP binding|helicase activity|nucleic acid binding cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(1) 18 AGAGAACTGTGGTCACCATCC 0.507000 6 215 0 0 1 0 0 CALCB 797 broad.mit.edu 37 11 15098971 15098971 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:15098971C>T ENST00000523376.1 + 9 1659 c.397C>T c.(397-399)Cgc>Tgc p.R133C CALCB_ENST00000533448.1_Missense_Mutation_p.R122C|CALCB_ENST00000324229.6_Missense_Mutation_p.R122C P10092 CALCB_HUMAN calcitonin-related polypeptide beta 122 cellular calcium ion homeostasis|signal transduction|vasodilation extracellular region|soluble fraction neuropeptide hormone activity endometrium(1)|large_intestine(1)|lung(1)|skin(2) 5 TGGCAGGCGCCGCAGGGACCT 0.542000 21 16 0 0 1 0 0 SEMA4A 64218 broad.mit.edu 37 1 156146216 156146216 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:156146216C>T ENST00000368285.3 + 15 1981 c.1714C>T c.(1714-1716)Ccc>Tcc p.P572S SEMA4A_ENST00000368282.1_Missense_Mutation_p.P572S|SEMA4A_ENST00000368286.2_Missense_Mutation_p.P440S|SEMA4A_ENST00000368284.1_Missense_Mutation_p.P440S|SEMA4A_ENST00000355014.2_Missense_Mutation_p.P572S NM_001193300.1|NM_022367.3 NP_001180229.1|NP_071762.2 Q9H3S1 SEM4A_HUMAN sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A 572 axon guidance integral to membrane|plasma membrane receptor activity breast(1)|ovary(2)|skin(2) 5 Hepatocellular(266;0.158) CCTGGCTGTCCCCAACTCCAT 0.522000 44 32 0 0 1 0 0 CYP4F24P 388514 broad.mit.edu 37 19 15890526 15890526 + RNA SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:15890526G>A ENST00000587443.2 - 0 271 NR_033864.1 CACTCACGAGGTCCTGGTTGA 0.562000 19 29 0 0 1 0 0 ABCB1 5243 broad.mit.edu 37 7 87170679 87170679 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:87170679G>A ENST00000265724.3 - 19 2730 c.2313C>T c.(2311-2313)ttC>ttT p.F771F ABCB1_ENST00000543898.1_Silent_p.F707F NM_000927.4 NP_000918.2 P08183 MDR1_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 1 771 ABC transmembrane type-1 2. G2/M transition of mitotic cell cycle|stem cell proliferation apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction ATP binding|protein binding|xenobiotic-transporting ATPase activity NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1) 111 Esophageal squamous(14;0.00164) Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570) TTACCTGAAGGAAAAATGTAA 0.299000 36 75 0 0 1 0 0 CHL1 10752 broad.mit.edu 37 3 433444 433444 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:433444G>A ENST00000256509.2 + 23 3520 c.2878G>A c.(2878-2880)Gga>Aga p.G960R CHL1_ENST00000397491.2_Missense_Mutation_p.G944R NM_001253387.1|NM_001253388.1|NM_006614.3 NP_001240316.1|NP_001240317.1|NP_006605.2 O00533 CHL1_HUMAN cell adhesion molecule L1-like 944 Fibronectin type-III 4. axon guidance|cell adhesion|signal transduction integral to membrane|plasma membrane|proteinaceous extracellular matrix NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1) 93 all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201) Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198) GAAATTAAATGGAAACTTAAC 0.323000 41 74 0 0 1 0 0 ELF2 1998 broad.mit.edu 37 4 139993179 139993179 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:139993179G>A ENST00000379550.1 - 5 572 c.367C>T c.(367-369)Cct>Tct p.P123S ELF2_ENST00000358635.3_Missense_Mutation_p.P63S|ELF2_ENST00000265495.4_Intron|ELF2_ENST00000394235.2_Intron|ELF2_ENST00000379549.2_Missense_Mutation_p.P63S|ELF2_ENST00000510408.1_Intron Q15723 ELF2_HUMAN E74-like factor 2 (ets domain transcription factor) 123 negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter cytoplasm protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(1)|kidney(4)|large_intestine(5)|lung(7)|ovary(1)|skin(1) 19 all_hematologic(180;0.162) ACACAAGGAGGAACAAACACT 0.393000 6 113 0 0 1 0 0 CCNT1 904 broad.mit.edu 37 12 49087052 49087052 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:49087052G>A ENST00000261900.3 - 9 2167 c.1945C>T c.(1945-1947)Cac>Tac p.H649Y NM_001240.3 NP_001231.2 O60563 CCNT1_HUMAN cyclin T1 649 cell cycle|cell division|interspecies interaction between organisms|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction nucleoplasm DNA binding|protein kinase binding breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|skin(2) 27 GTCGTGTTGTGACCATTGGCC 0.517000 24 75 0 0 1 0 0 DAB1 1600 broad.mit.edu 37 1 57480958 57480958 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:57480958G>A ENST00000371236.2 - 12 1305 c.1042C>T c.(1042-1044)Cct>Tct p.P348S DAB1_ENST00000414851.2_Missense_Mutation_p.P330S|DAB1_ENST00000420954.2_Missense_Mutation_p.P346S|DAB1_ENST00000485760.1_5'UTR|DAB1_ENST00000371234.4_Missense_Mutation_p.P348S|DAB1_ENST00000439789.2_Missense_Mutation_p.P262S|DAB1_ENST00000371231.1_Missense_Mutation_p.P381S O75553 DAB1_HUMAN Dab, reelin signal transducer, homolog 1 (Drosophila) 381 cell differentiation|nervous system development central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5) 64 TGAGTGGCAGGAAAGAGACCC 0.642000 48 92 0 0 1 0 0 SGK3 23678 broad.mit.edu 37 8 67771771 67771771 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:67771771C>T ENST00000396596.1 + 17 1660 c.1446C>T c.(1444-1446)ttC>ttT p.F482F SGK3_ENST00000520976.1_Silent_p.F450F|SGK3_ENST00000521198.2_Silent_p.F482F|SGK3_ENST00000522398.1_Silent_p.F482F|SGK3_ENST00000345714.4_Silent_p.F482F|C8orf44-SGK3_ENST00000519289.1_Silent_p.F482F NM_013257.4 NP_037389.4 Q96BR1 SGK3_HUMAN serum/glucocorticoid regulated kinase family, member 3 482 AGC-kinase C-terminal. cell communication|response to stress cytoplasmic membrane-bounded vesicle|early endosome ATP binding|phosphatidylinositol binding|protein serine/threonine kinase activity breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1) 18 Breast(64;0.186) Lung NSC(129;0.0908)|all_lung(136;0.152) Epithelial(68;0.0046)|OV - Ovarian serous cystadenocarcinoma(28;0.0112)|all cancers(69;0.0141)|BRCA - Breast invasive adenocarcinoma(89;0.206) ATGATGCATTCGTTGGTTTCT 0.383000 56 102 0 0 1 0 0 MMP16 4325 broad.mit.edu 37 8 89128759 89128759 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:89128759G>A ENST00000286614.6 - 6 1341 c.1060C>T c.(1060-1062)Cgt>Tgt p.R354C MMP16_ENST00000544227.1_5'UTR NM_005941.4 NP_005932.2 P51512 MMP16_HUMAN matrix metallopeptidase 16 (membrane-inserted) 354 Hemopexin-like 1. collagen catabolic process|proteolysis cell surface|integral to plasma membrane|proteinaceous extracellular matrix calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3) 81 ATCTCACGACGAAGAATAGCT 0.433000 28 61 0 0 1 0 0 GRXCR2 643226 broad.mit.edu 37 5 145252394 145252394 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:145252394C>T ENST00000377976.1 - 1 137 c.138G>A c.(136-138)aaG>aaA p.K46K NM_001080516.1 NP_001073985.1 A6NFK2 GRCR2_HUMAN glutaredoxin, cysteine rich 2 46 breast(1)|endometrium(1)|large_intestine(2)|lung(1)|urinary_tract(2) 7 GGTATTCCTCCTTTGGTGACT 0.498000 52 146 0 0 1 0 0 IFRD1 3475 broad.mit.edu 37 7 112097100 112097100 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:112097100C>T ENST00000429071.1 + 4 647 c.416C>T c.(415-417)gCc>gTc p.A139V IFRD1_ENST00000535603.1_Intron|IFRD1_ENST00000403825.3_Intron|IFRD1_ENST00000005558.4_Intron O00458 IFRD1_HUMAN interferon-related developmental regulator 1 139 multicellular organismal development|myoblast cell fate determination binding p.?(1) breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(5)|urinary_tract(1) 15 AAAGGTAATGCCCTTATTTTT 0.353000 23 95 0 0 1 0 0 COL9A1 1297 broad.mit.edu 37 6 71004230 71004230 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:71004230G>A ENST00000357250.6 - 5 494 c.336C>T c.(334-336)tcC>tcT p.S112S COL9A1_ENST00000370496.3_Silent_p.S112S NM_001851.4 NP_001842.3 P20849 CO9A1_HUMAN collagen, type IX, alpha 1 112 Nonhelical region (NC4).|TSP N-terminal. axon guidance|cell adhesion|organ morphogenesis collagen type IX metal ion binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4) 80 TCGTCAAGAAGGAGTATTCTT 0.393000 67 148 0 0 1 0 0 SCRIB 23513 broad.mit.edu 37 8 144877674 144877674 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:144877674G>A ENST00000356994.2 - 25 3636 c.3630C>T c.(3628-3630)ccC>ccT p.P1210P SCRIB_ENST00000377533.3_Silent_p.P1129P|SCRIB_ENST00000320476.3_Silent_p.P1210P NM_182706.4 NP_874365.3 Q14160 SCRIB_HUMAN scribbled planar cell polarity protein 1210 Interaction with ARHGEF7. activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction cell-cell adherens junction|Scrib-APC-beta-catenin complex protein binding NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 42 all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18) CTGCCGCAAAGGGGTTGGCAA 0.662000 16 41 0 0 1 0 0 TECRL 253017 broad.mit.edu 37 4 65146800 65146800 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:65146800C>T ENST00000381210.3 - 11 1033 c.923G>A c.(922-924)gGa>gAa p.G308E TECRL_ENST00000507440.1_Missense_Mutation_p.G308E NM_001010874.4 NP_001010874.2 Q5HYJ1 TECRL_HUMAN trans-2,3-enoyl-CoA reductase-like 308 lipid metabolic process cytoplasm|integral to membrane oxidoreductase activity, acting on the CH-CH group of donors endometrium(2)|kidney(5)|large_intestine(7)|lung(30)|prostate(1)|skin(1)|stomach(1) 47 AATCCATGATCCAATCTGTTA 0.279000 16 45 0 0 1 0 0 MYCBP2 23077 broad.mit.edu 37 13 77755871 77755871 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr13:77755871G>A ENST00000407578.2 - 33 5172 c.4906C>T c.(4906-4908)Ccc>Tcc p.P1636S MYCBP2_ENST00000544440.2_Missense_Mutation_p.P1598S|MYCBP2_ENST00000360084.5_5'UTR|MYCBP2_ENST00000357337.6_Missense_Mutation_p.P1598S NM_015057.4 NP_055872.4 O75592 MYCB2_HUMAN MYC binding protein 2, E3 ubiquitin protein ligase 1598 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ligase activity|protein binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 118 Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22) GBM - Glioblastoma multiforme(99;0.109) ACCAAAAGGGGAAAACGATGA 0.388000 15 109 0 0 1 0 0 SPEG 10290 broad.mit.edu 37 2 220315951 220315951 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:220315951G>A ENST00000312358.7 + 5 2339 c.2207G>A c.(2206-2208)gGg>gAg p.G736E SPEG_ENST00000485813.1_3'UTR|SPEG_ENST00000396695.2_5'UTR|SPEG_ENST00000396698.1_Missense_Mutation_p.G632E NM_005876.4 NP_005867.3 Q15772 SPEG_HUMAN SPEG complex locus 736 Ig-like 2. muscle organ development|negative regulation of cell proliferation nucleus ATP binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4) 100 Renal(207;0.0183) Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163) GTGGCACCAGGGGCAGATGTG 0.627000 67 121 0 0 1 0 0 MMP16 4325 broad.mit.edu 37 8 89198753 89198753 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:89198753C>T ENST00000286614.6 - 3 637 c.356G>A c.(355-357)cGa>cAa p.R119Q MMP16_ENST00000544227.1_5'UTR NM_005941.4 NP_005932.2 P51512 MMP16_HUMAN matrix metallopeptidase 16 (membrane-inserted) 119 collagen catabolic process|proteolysis cell surface|integral to plasma membrane|proteinaceous extracellular matrix calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3) 81 CAATGCATATCGCTTTCGACG 0.393000 90 205 0 0 1 0 0 PARP4 143 broad.mit.edu 37 13 25029202 25029202 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr13:25029202G>A ENST00000381989.3 - 22 2816 c.2711C>T c.(2710-2712)tCc>tTc p.S904F NM_006437.3 NP_006428.2 Q9UKK3 PARP4_HUMAN poly (ADP-ribose) polymerase family, member 4 904 VWFA. cell death|DNA repair|inflammatory response|protein ADP-ribosylation|response to drug|transport cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule DNA binding|enzyme binding|NAD+ ADP-ribosyltransferase activity autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 63 all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052) all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195) ACCCACCAAGGACAGCGCATG 0.512000 11 297 0 0 1 0 0 ANK3 288 broad.mit.edu 37 10 61835162 61835162 + Missense_Mutation SNP G G A rs148806240 TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:61835162G>A ENST00000280772.1 - 37 5668 c.5477C>T c.(5476-5478)tCt>tTt p.S1826F ANK3_ENST00000355288.2_Intron|ANK3_ENST00000503366.1_Intron|ANK3_ENST00000373827.2_Intron NM_020987.3 NP_066267.2 Q12955 ANK3_HUMAN ankyrin 3, node of Ranvier (ankyrin G) 1826 Ser-rich. establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 196 ATTGACTACAGAGTATACTGG 0.403000 66 154 0 0 1 0 0 NLRP4 147945 broad.mit.edu 37 19 56370573 56370573 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:56370573C>T ENST00000301295.6 + 3 2236 c.1814C>T c.(1813-1815)tCc>tTc p.S605F NLRP4_ENST00000346986.5_Missense_Mutation_p.S605F|NLRP4_ENST00000587891.1_Missense_Mutation_p.S530F NM_134444.4 NP_604393.2 Q96MN2 NALP4_HUMAN NLR family, pyrin domain containing 4 605 ATP binding breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8) 42 Colorectal(82;0.0002)|Ovarian(87;0.221) GBM - Glioblastoma multiforme(193;0.0606) CTCTGTTTTTCCGTTCAAAAT 0.413000 39 82 0 0 1 0 0 AFM 173 broad.mit.edu 37 4 74354356 74354356 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:74354356G>A ENST00000226355.3 + 7 816 c.723G>A c.(721-723)gcG>gcA p.A241A NM_001133.2 NP_001124.1 P43652 AFAM_HUMAN afamin 241 Albumin 2. vitamin transport vitamin E binding breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 32 Breast(15;0.00102) Epithelial(6;5.69e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|all cancers(17;0.000555)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) GATATATTGCGATACTCAGTC 0.338000 28 71 0 0 1 0 0 FOXB2 442425 broad.mit.edu 37 9 79634648 79634648 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:79634648C>T ENST00000376708.1 + 1 78 c.78C>T c.(76-78)atC>atT p.I26I NM_001013735.1 NP_001013757.1 Q5VYV0 FOXB2_HUMAN forkhead box B2 26 brain development|embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding breast(1)|lung(8)|ovary(1) 10 CCATGGCAATCCAGCACTCGG 0.627000 20 34 0 0 1 0 0 PPP1R12B 4660 broad.mit.edu 37 1 202418131 202418131 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:202418131C>T ENST00000406302.3 + 13 1835 c.1682C>T c.(1681-1683)tCc>tTc p.S561F PPP1R12B_ENST00000336894.4_Missense_Mutation_p.S561F NM_001197131.1|NM_002481.3 NP_001184060.1|NP_002472.2 O60237 MYPT2_HUMAN protein phosphatase 1, regulatory subunit 12B 561 regulation of muscle contraction|signal transduction cytoplasm enzyme activator activity central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(17)|ovary(4)|skin(3)|urinary_tract(1) 41 BRCA - Breast invasive adenocarcinoma(75;0.166) CCTCACAAATCCCAGGCCGAC 0.468000 67 52 0 0 1 0 0 IGHV3-43 28426 broad.mit.edu 37 14 106926397 106926397 + RNA SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr14:106926397C>T ENST00000434710.1 - 0 224 GTATAATCATCAAAGGTGAAT 0.557000 66 330 0 0 1 0 0 SP7 121340 broad.mit.edu 37 12 53722096 53722096 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:53722096C>T ENST00000536324.2 - 3 1413 c.1130G>A c.(1129-1131)gGa>gAa p.G377E SP7_ENST00000537210.2_Missense_Mutation_p.G359E|SP7_ENST00000303846.3_Missense_Mutation_p.G377E NM_001173467.1 NP_001166938.1 Q8TDD2 SP7_HUMAN Sp7 transcription factor 377 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding cervix(2)|large_intestine(3)|lung(7)|skin(1)|urinary_tract(1) 14 GCCTGGTTCTCCATGGGTGCG 0.667000 OREG0021867 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 18 34 0 0 1 0 0 PTCHD2 57540 broad.mit.edu 37 1 11591707 11591707 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:11591707C>T ENST00000294484.6 + 17 3453 c.3315C>T c.(3313-3315)tcC>tcT p.S1105S PTCHD2_ENST00000389575.3_Silent_p.S1105S NM_020780.1 NP_065831.1 Q9P2K9 PTHD2_HUMAN patched domain containing 2 1105 cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway endoplasmic reticulum|integral to membrane|nuclear membrane hedgehog receptor activity NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 76 Ovarian(185;0.249) Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549) GGCAGCTGTCCCACGGGGCAG 0.662000 21 43 0 0 1 0 0 BMP2K 55589 broad.mit.edu 37 4 79799971 79799971 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:79799971C>T ENST00000335016.5 + 14 2043 c.1877C>T c.(1876-1878)cCt>cTt p.P626L BMP2K_ENST00000502871.1_Missense_Mutation_p.P626L NM_198892.1 NP_942595.1 Q9NSY1 BMP2K_HUMAN BMP2 inducible kinase 626 nucleus ATP binding|protein serine/threonine kinase activity NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1) 13 GGGTGGAATCCTTTTGGAGAG 0.373000 20 48 0 0 1 0 0 OR4A15 81328 broad.mit.edu 37 11 55135942 55135942 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:55135942C>T ENST00000314706.3 + 1 583 c.583C>T c.(583-585)Cct>Tct p.P195S NM_001005275.1 NP_001005275.1 Q8NGL6 O4A15_HUMAN olfactory receptor, family 4, subfamily A, member 15 195 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 71 TTATCAGCTCCCTTTCTGTGG 0.428000 11 207 0 0 1 0 0 ACHE 43 broad.mit.edu 37 7 100491845 100491845 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:100491845G>A ENST00000302913.4 - 2 147 c.9C>T c.(7-9)ccC>ccT p.P3P ACHE_ENST00000428317.1_Silent_p.P3P|ACHE_ENST00000411582.1_Silent_p.P3P|ACHE_ENST00000412389.1_Silent_p.P3P|ACHE_ENST00000419336.2_Silent_p.P3P|ACHE_ENST00000241069.5_Silent_p.P3P NM_015831.2 NP_056646.1 P22303 ACES_HUMAN acetylcholinesterase 3 acetylcholine catabolic process in synaptic cleft|amyloid precursor protein metabolic process|cell adhesion|cell proliferation|choline metabolic process|DNA replication|muscle organ development|neurotransmitter biosynthetic process|osteoblast development|positive regulation of protein secretion|regulation of axonogenesis|regulation of dendrite morphogenesis|response to wounding|synapse assembly anchored to membrane|axon|basal lamina|cell junction|cell surface|dendrite|endoplasmic reticulum lumen|extracellular space|Golgi apparatus|neuromuscular junction|nucleus|perinuclear region of cytoplasm|postsynaptic membrane|presynaptic membrane|synaptic cleft acetylcholine binding|acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|collagen binding|laminin-1 binding|protein homodimerization activity|serine hydrolase activity large_intestine(3)|lung(7)|skin(3)|urinary_tract(3) 16 Lung NSC(181;0.041)|all_lung(186;0.0581) Ambenonium(DB01122)|Atropine(DB00572)|Choline(DB00122)|Decamethonium(DB01245)|Demecarium bromide(DB00944)|Donepezil(DB00843)|Edrophonium(DB01010)|Ephedrine(DB01364)|Galantamine(DB00674)|Gallamine Triethiodide(DB00483)|Isoflurophate(DB00677)|Neostigmine(DB01400)|Physostigmine(DB00981)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Tacrine(DB00382)|Tubocurarine(DB01199) GACACTGCGGGGGCCTCATGG 0.652000 5 11 0 0 1 0 0 ITIH3 3699 broad.mit.edu 37 3 52841061 52841061 + Nonsense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:52841061G>A ENST00000449956.2 + 19 2207 c.2201G>A c.(2200-2202)tGg>tAg p.W734* ITIH3_ENST00000416872.2_Nonsense_Mutation_p.W542* NM_002217.3 NP_002208.3 Q06033 ITIH3_HUMAN inter-alpha-trypsin inhibitor heavy chain 3 734 hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(6)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1) 25 BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496) ATCACCCTGTGGAACAGGGCC 0.552000 4 12 0 0 1 0 0 NLRP7 199713 broad.mit.edu 37 19 55451158 55451158 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:55451158G>A ENST00000446217.1 - 6 1515 c.1113C>T c.(1111-1113)gcC>gcT p.A371A NLRP7_ENST00000448121.2_Silent_p.A343A|NLRP7_ENST00000328092.5_Silent_p.A343A|NLRP7_ENST00000340844.2_Silent_p.A343A|NLRP7_ENST00000590030.1_Silent_p.A343A|NLRP7_ENST00000588756.1_Silent_p.A343A|NLRP7_ENST00000592784.1_Silent_p.A343A Q8WX94 NALP7_HUMAN NLR family, pyrin domain containing 7 343 NACHT. ATP binding autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 73 GBM - Glioblastoma multiforme(193;0.0325) AGGCACGCATGGCTTGGTCCT 0.612000 6 77 0 0 1 0 0 LAMA3 3909 broad.mit.edu 37 18 21487828 21487828 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr18:21487828G>A ENST00000313654.9 + 54 7185 c.6944G>A c.(6943-6945)aGa>aAa p.R2315K LAMA3_ENST00000269217.6_Missense_Mutation_p.R706K|LAMA3_ENST00000588770.1_3'UTR|LAMA3_ENST00000399516.3_Missense_Mutation_p.R2259K|LAMA3_ENST00000587184.1_Missense_Mutation_p.R650K NM_198129.1 NP_937762.1 Q16787 LAMA3_HUMAN laminin, alpha 3 2315 Domain II and I. cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4) 128 all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) GATGTGGAAAGAATTAAGGAC 0.488000 59 105 0 0 1 0 0 CD84 8832 broad.mit.edu 37 1 160523811 160523811 + Missense_Mutation SNP C C G TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:160523811C>G ENST00000368054.3 - 3 549 c.514G>C c.(514-516)Gga>Cga p.G172R CD84_ENST00000368051.3_Missense_Mutation_p.G172R|CD84_ENST00000534968.1_Missense_Mutation_p.G58R|CD84_ENST00000368048.3_Missense_Mutation_p.G172R|CD84_ENST00000311224.4_Missense_Mutation_p.G172R|CD84_ENST00000368047.3_5'UTR|RP11-528G1.2_ENST00000446952.1_RNA NM_003874.3 NP_003865.1 Q9UIB8 SLAF5_HUMAN CD84 molecule 172 Ig-like C2-type. blood coagulation|defense response|homophilic cell adhesion|leukocyte migration integral to plasma membrane receptor activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(1) 24 all_cancers(52;3.62e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.0175) CCCTCTTCTCCCAGGGGACTC 0.458000 36 121 0 0 1 0 0 MAK 4117 broad.mit.edu 37 6 10791929 10791929 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:10791929C>T ENST00000313243.2 - 10 1677 c.1295G>A c.(1294-1296)aGg>aAg p.R432K SYCP2L_ENST00000543878.1_Intron|MAK_ENST00000538030.1_Missense_Mutation_p.R432K|MAK_ENST00000354489.2_Missense_Mutation_p.R432K|RP11-637O19.3_ENST00000480294.1_Intron|MAK_ENST00000474039.1_Missense_Mutation_p.R432K P20794 MAK_HUMAN male germ cell-associated kinase 432 cell differentiation|multicellular organismal development|spermatogenesis ATP binding|cyclin-dependent protein kinase activity breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|prostate(1)|skin(1) 22 Breast(50;0.107)|Ovarian(93;0.107) all_hematologic(90;0.117) ATCTTTTTTCCTTTTTTCTTT 0.348000 36 77 0 0 1 0 0 BMP5 653 broad.mit.edu 37 6 55638912 55638912 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:55638912C>T ENST00000370830.3 - 4 1660 c.962G>A c.(961-963)cGa>cAa p.R321Q BMP5_ENST00000446683.2_Missense_Mutation_p.R321Q NM_021073.2 NP_066551.1 P22003 BMP5_HUMAN bone morphogenetic protein 5 321 cartilage development|cell differentiation|growth|ossification extracellular space BMP receptor binding|cytokine activity|growth factor activity p.R321Q(1) cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1) 45 Lung NSC(77;0.0462) LUSC - Lung squamous cell carcinoma(124;0.181) TTGATTTTTTCGTTTGTTGGC 0.478000 6 251 0 0 1 0 0 SHC2 25759 broad.mit.edu 37 19 434755 434755 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:434755G>A ENST00000264554.6 - 8 1063 c.1064C>T c.(1063-1065)tCc>tTc p.S355F NM_012435.2 NP_036567.2 P98077 SHC2_HUMAN SHC (Src homology 2 domain containing) transforming protein 2 355 CH1. insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction cytosol endometrium(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 21 all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GGCCAGCCTGGAGTCCACTAG 0.687000 23 41 0 0 1 0 0 HECW1 23072 broad.mit.edu 37 7 43447309 43447309 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:43447309G>A ENST00000395891.1 + 8 1385 c.780G>A c.(778-780)gtG>gtA p.V260V HECW1_ENST00000453890.1_Silent_p.V260V|HECW1_ENST00000471043.1_3'UTR NM_015052.3 NP_055867.3 Q76N89 HECW1_HUMAN HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1 260 C2. protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus ubiquitin-protein ligase activity NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3) 125 GCAACACCGTGAACCCCATCT 0.547000 24 47 0 0 1 0 0 DNAH17 8632 broad.mit.edu 37 17 76525591 76525591 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:76525591C>T ENST00000389840.5 - 22 3594 c.3470G>A c.(3469-3471)gGg>gAg p.G1157E DNAH17_ENST00000585328.1_Missense_Mutation_p.G1154E dynein, axonemal, heavy chain 17 NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 116 BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656) CATCTCCTCCCCGTAGGTCTT 0.602000 42 184 0 0 1 0 0 PRR16 51334 broad.mit.edu 37 5 120022214 120022214 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:120022214G>A ENST00000379551.2 + 3 1013 c.656G>A c.(655-657)gGa>gAa p.G219E PRR16_ENST00000446965.1_Missense_Mutation_p.G172E|PRR16_ENST00000407149.2_Missense_Mutation_p.G242E|PRR16_ENST00000505123.1_Missense_Mutation_p.G172E NM_016644.1 NP_057728.1 Q569H4 PRR16_HUMAN proline rich 16 242 Pro-rich. endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 28 all_cancers(142;0.0464)|Prostate(80;0.00446) KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221) OV - Ovarian serous cystadenocarcinoma(64;0.000126)|Epithelial(69;0.000331)|all cancers(49;0.00169) CACCCACCGGGAAAGATTCCT 0.502000 33 60 0 0 1 0 0 EVC2 132884 broad.mit.edu 37 4 5617155 5617155 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:5617155C>T ENST00000310917.2 - 16 3314 c.2583G>A c.(2581-2583)gtG>gtA p.V861V EVC2_ENST00000344938.1_Silent_p.V941V|EVC2_ENST00000344408.5_Silent_p.V941V NM_001166136.1 NP_001159608.1 Q86UK5 LBN_HUMAN Ellis van Creveld syndrome 2 941 integral to membrane NS(2)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(32)|lung(28)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2) 81 TGACCTTTTCCACCAGGTCTT 0.517000 7 64 0 0 1 0 0 CXorf48 54967 broad.mit.edu 37 X 134303676 134303676 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chrX:134303676C>T ENST00000344129.2 - 2 347 c.121G>A c.(121-123)Gga>Aga p.G41R CXorf48_ENST00000276241.6_Missense_Mutation_p.G41R NM_017863.2 NP_060333.1 Q8WUE5 CX048_HUMAN chromosome X open reading frame 48 41 endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3) 5 Acute lymphoblastic leukemia(192;0.000127) GTGACAACTCCCTGCACAGTT 0.418000 19 9 0 0 1 0 0 TFPI 7035 broad.mit.edu 37 2 188332479 188332479 + Splice_Site SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:188332479C>T ENST00000233156.3 - 7 1103 c.e7+1 AC007319.1_ENST00000412276.1_RNA|AC007319.1_ENST00000453517.1_RNA|TFPI_ENST00000392365.1_Splice_Site NM_006287.4 NP_006278.1 P10646 TFPI1_HUMAN tissue factor pathway inhibitor (lipoprotein-associated coagulation inhibitor) blood coagulation, extrinsic pathway extracellular space|plasma membrane serine-type endopeptidase inhibitor activity breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1) 9 OV - Ovarian serous cystadenocarcinoma(117;0.0554) Coagulation factor VIIa(DB00036) ATCTTCTATACCTTTTTTACA 0.308000 39 85 0 0 1 0 0 HIPK3 10114 broad.mit.edu 37 11 33375104 33375104 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:33375104C>T ENST00000303296.4 + 17 3943 c.3638C>T c.(3637-3639)cCa>cTa p.P1213L HIPK3_ENST00000525975.1_Missense_Mutation_p.P1192L|HIPK3_ENST00000456517.1_Missense_Mutation_p.P1192L|HIPK3_ENST00000379016.3_Missense_Mutation_p.P1192L NM_005734.3 NP_005725.3 Q9H422 HIPK3_HUMAN homeodomain interacting protein kinase 3 1213 anti-apoptosis|apoptosis|negative regulation of JUN kinase activity|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm ATP binding|protein serine/threonine kinase activity endometrium(3)|kidney(3)|large_intestine(9)|liver(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 39 AGCCAGTATCCATATATGTGA 0.353000 24 78 0 0 1 0 0 GNGT2 2793 broad.mit.edu 37 17 47284190 47284190 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:47284190C>T ENST00000511277.1 - 4 318 c.139G>A c.(139-141)Gat>Aat p.D47N GNGT2_ENST00000511673.1_Missense_Mutation_p.D47N|GNGT2_ENST00000503070.1_Missense_Mutation_p.D47N|GNGT2_ENST00000515635.1_Missense_Mutation_p.D47N|GNGT2_ENST00000507680.1_Missense_Mutation_p.D47N|GNGT2_ENST00000300406.2_Missense_Mutation_p.D47N NM_001198756.1 NP_001185685.1 O14610 GBGT2_HUMAN guanine nucleotide binding protein (G protein), gamma transducing activity polypeptide 2 47 G-protein coupled receptor protein signaling pathway|phototransduction|synaptic transmission extracellular region|heterotrimeric G-protein complex GTPase activity|signal transducer activity endometrium(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 4 Epithelial(5;6.37e-06)|all cancers(6;6.36e-05) AGAAAAGGATCGTTTCCTGCT 0.488000 40 114 0 0 1 0 0 SORT1 6272 broad.mit.edu 37 1 109898085 109898085 + Missense_Mutation SNP A A T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:109898085A>T ENST00000256637.6 - 4 505 c.447T>A c.(445-447)gaT>gaA p.D149E SORT1_ENST00000482236.1_5'UTR|SORT1_ENST00000538502.1_Missense_Mutation_p.D13E NM_002959.5 NP_002950.3 Q99523 SORT_HUMAN sortilin 1 149 endocytosis|endosome to lysosome transport|endosome transport via multivesicular body sorting pathway|glucose import|Golgi to endosome transport|induction of apoptosis by extracellular signals|myotube differentiation|negative regulation of apoptosis|negative regulation of lipoprotein lipase activity|neuropeptide signaling pathway|ossification|plasma membrane to endosome transport|regulation of gene expression|response to insulin stimulus|vesicle organization cell surface|coated pit|early endosome|endoplasmic reticulum membrane|endosome membrane|Golgi cisterna membrane|integral to membrane|lysosomal membrane|microsome|nuclear membrane|perinuclear region of cytoplasm|plasma membrane enzyme binding|nerve growth factor binding|nerve growth factor receptor activity|neurotensin receptor activity, non-G-protein coupled NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|prostate(1)|skin(1) 26 all_epithelial(167;4.69e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244) Lung(183;0.0529)|Colorectal(144;0.142)|Epithelial(280;0.145)|Kidney(133;0.169)|all cancers(265;0.184) TCTTCCCATAATCCTCACTGA 0.408000 23 58 0 0 1 0 0 RASGRF2 5924 broad.mit.edu 37 5 80366371 80366371 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:80366371G>A ENST00000265080.4 + 4 671 c.604G>A c.(604-606)Gaa>Aaa p.E202K RASGRF2_ENST00000502677.1_3'UTR NM_006909.2 NP_008840.1 O14827 RGRF2_HUMAN Ras protein-specific guanine nucleotide-releasing factor 2 202 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission cytosol|endoplasmic reticulum membrane|plasma membrane protein binding|Rho guanyl-nucleotide exchange factor activity biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 75 Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357) OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29) CCAAGAAGACGAAGATCCAGA 0.428000 54 85 0 0 1 0 0 CYP4F2 8529 broad.mit.edu 37 19 16001145 16001145 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:16001145G>A ENST00000221700.5 - 6 719 c.624C>T c.(622-624)ttC>ttT p.F208F CYP4F2_ENST00000592328.1_Silent_p.F208F|CYP4F2_ENST00000011989.7_Silent_p.F59F NM_001082.3 NP_001073.3 P78329 CP4F2_HUMAN cytochrome P450, family 4, subfamily F, polypeptide 2 208 leukotriene metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 46 TGTCAAAGCTGAAGACACATT 0.532000 40 88 0 0 1 0 0 ACOT1 641371 broad.mit.edu 37 14 74008253 74008253 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr14:74008253G>A ENST00000311148.4 + 2 822 c.514G>A c.(514-516)Gag>Aag p.E172K HEATR4_ENST00000334988.2_Intron|ACOT1_ENST00000557556.1_Missense_Mutation_p.E172K|HEATR4_ENST00000553558.1_Intron|HEATR4_ENST00000560393.1_Intron NM_001037161.1 NP_001032238.1 acyl-CoA thioesterase 1 endometrium(1)|large_intestine(1)|lung(2) 4 OV - Ovarian serous cystadenocarcinoma(108;1.37e-45)|BRCA - Breast invasive adenocarcinoma(234;0.0033) TGGCCTGCTGGAGTATCGGGC 0.502000 95 47 0 0 1 0 0 ASPH 444 broad.mit.edu 37 8 62465628 62465628 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:62465628G>A ENST00000541428.1 - 20 1661 c.1501C>T c.(1501-1503)Cac>Tac p.H501Y ASPH_ENST00000379454.4_Missense_Mutation_p.H530Y NM_001164750.1 NP_001158222.1 Q12797 ASPH_HUMAN aspartate beta-hydroxylase 530 muscle contraction integral to endoplasmic reticulum membrane calcium ion binding|electron carrier activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity|structural constituent of muscle breast(1)|cervix(1)|endometrium(5)|large_intestine(5)|lung(16)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 35 Lung SC(2;0.153) Lung NSC(129;0.0358)|all_lung(136;0.0654)|all_epithelial(80;0.101) L-Aspartic Acid(DB00128)|Succinic acid(DB00139) TCCCCCAGGTGGAAATAAAAT 0.403000 89 262 0 0 1 0 0 ARHGEF11 9826 broad.mit.edu 37 1 156925501 156925501 + Nonsense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:156925501G>A ENST00000368194.3 - 20 2801 c.1762C>T c.(1762-1764)Caa>Taa p.Q588* ARHGEF11_ENST00000361409.2_Nonsense_Mutation_p.Q548* NM_198236.2 NP_937879.1 O15085 ARHGB_HUMAN Rho guanine nucleotide exchange factor (GEF) 11 548 actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cell growth|regulation of Rho protein signal transduction|Rho protein signal transduction|striated muscle contraction cytosol|Golgi apparatus|plasma membrane G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2) 81 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) TCACTGCTTTGAGAAGAGCTT 0.502000 28 379 0 0 1 0 0 HECTD4 283450 broad.mit.edu 37 12 112622307 112622307 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:112622307G>A ENST00000550722.1 - 61 10420 c.10025C>T c.(10024-10026)tCc>tTc p.S3342F HECTD4_ENST00000377560.5_Missense_Mutation_p.S3316F|HECTD4_ENST00000430131.2_Missense_Mutation_p.S3066F NM_001109662.3 NP_001103132.3 HECT domain containing E3 ubiquitin protein ligase 4 CTGGCTGGTGGAGGCGGAGGC 0.667000 9 20 0 0 1 0 0 GTF2IRD2P1 401375 broad.mit.edu 37 7 72658185 72658185 + RNA SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:72658185G>A ENST00000425256.1 - 0 1726 NR_002164.1 gatttcggatgaattatacaa 0.507000 59 225 0 0 1 0 0 ZNF799 90576 broad.mit.edu 37 19 12502756 12502756 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:12502756G>A ENST00000419318.1 - 4 1109 c.360C>T c.(358-360)taC>taT p.Y120Y CTD-3105H18.14_ENST00000435033.1_Intron|ZNF799_ENST00000430385.3_Silent_p.Y152Y Q96GE5 ZN799_HUMAN zinc finger protein 799 152 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(2) 19 GTGAGTTGTGGTAACTGAAGG 0.413000 62 132 0 0 1 0 0 DNAH3 55567 broad.mit.edu 37 16 20976497 20976497 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr16:20976497G>A ENST00000261383.3 - 53 8708 c.8709C>T c.(8707-8709)ccC>ccT p.P2903P DNAH3_ENST00000415178.1_3'UTR NM_017539.1 NP_060009.1 Q8TD57 DYH3_HUMAN dynein, axonemal, heavy chain 3 2903 Stalk (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity p.P2903P(2) NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6) 202 GBM - Glioblastoma multiforme(48;0.207) GCTCCCGTTTGGGAGCCACCA 0.587000 17 254 0 0 1 0 0 AQP1 358 broad.mit.edu 37 7 30951579 30951579 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:30951579C>T ENST00000311813.4 + 1 110 c.55C>T c.(55-57)Ctg>Ttg p.L19L AQP1_ENST00000509504.1_Intron|AQP1_ENST00000434909.2_Intron NM_198098.2 NP_932766.1 aquaporin 1 kidney(1)|large_intestine(2)|lung(9) 12 Melanoma(862;0.16) GGCCGAGTTCCTGGCCACGAC 0.607000 34 59 0 0 1 0 0 ALG3 10195 broad.mit.edu 37 3 183960337 183960337 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:183960337G>A ENST00000455059.1 - 9 1616 c.1162C>T c.(1162-1164)Ccc>Tcc p.P388S ALG3_ENST00000418734.2_Missense_Mutation_p.P372S|EIF2B5_ENST00000444495.1_Intron|ALG3_ENST00000445626.2_Missense_Mutation_p.P380S|ALG3_ENST00000397676.3_Missense_Mutation_p.P428S Q92685 ALG3_HUMAN ALG3, alpha-1,3- mannosyltransferase 428 dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine endoplasmic reticulum membrane|integral to membrane alpha-1,3-mannosyltransferase activity kidney(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1) 9 all_cancers(143;1.39e-10)|Ovarian(172;0.0339) Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) GTGCTCTTGGGGAAAGGCTGC 0.602000 11 27 0 0 1 0 0 SLCO1C1 53919 broad.mit.edu 37 12 20893161 20893161 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:20893161C>T ENST00000381552.1 + 12 1960 c.1592C>T c.(1591-1593)tCc>tTc p.S531F SLCO1C1_ENST00000266509.2_Missense_Mutation_p.S531F|SLCO1C1_ENST00000545102.1_Missense_Mutation_p.S413F|SLCO1C1_ENST00000545604.1_Missense_Mutation_p.S531F|SLCO1C1_ENST00000540354.1_Missense_Mutation_p.S482F Q9NYB5 SO1C1_HUMAN solute carrier organic anion transporter family, member 1C1 531 sodium-independent organic anion transport integral to membrane|plasma membrane thyroid hormone transmembrane transporter activity NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 60 Esophageal squamous(101;0.149) GCTTCTAAATCCGGAAATTCC 0.358000 34 90 0 0 1 0 0 ABCC6 368 broad.mit.edu 37 16 16295860 16295860 + Nonsense_Mutation SNP T T A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr16:16295860T>A ENST00000205557.7 - 9 1203 c.1174A>T c.(1174-1176)Aag>Tag p.K392* ABCC6_ENST00000574094.1_5'UTR NM_001171.5 NP_001162.4 O95255 MRP6_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 6 392 ABC transmembrane type-1 1. response to drug|visual perception integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1) 43 UCEC - Uterine corpus endometrioid carcinoma (3;0.123) GGGCTCACCTTTCTGTACACC 0.562000 8 143 0 0 1 0 0 RIC3 79608 broad.mit.edu 37 11 8161741 8161741 + Splice_Site SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:8161741C>T ENST00000343202.4 - 2 190 c.e2-1 RIC3_ENST00000419822.2_Splice_Site|RIC3_ENST00000425599.2_Splice_Site|RIC3_ENST00000309737.6_Splice_Site|RIC3_ENST00000539720.1_Splice_Site|RIC3_ENST00000335425.7_Intron NM_001206671.2|NM_024557.4 NP_001193600.1|NP_078833.3 Q7Z5B4 RIC3_HUMAN RIC3 acetylcholine receptor chaperone endoplasmic reticulum membrane|Golgi membrane|integral to membrane breast(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1) 17 Epithelial(150;2.89e-07)|BRCA - Breast invasive adenocarcinoma(625;0.204) CCCAATTTTCCTGAGAAAATA 0.428000 27 20 0 0 1 0 0 TMEM56 148534 broad.mit.edu 37 1 95657367 95657367 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:95657367C>T ENST00000370203.4 + 7 1026 c.735C>T c.(733-735)atC>atT p.I245I RP11-57H12.6_ENST00000604534.1_Intron|RP11-57H12.3_ENST00000421762.1_RNA|RP11-57H12.3_ENST00000419846.1_RNA NM_001199679.1|NM_152487.2 NP_001186608.1|NP_689700.1 Q96MV1 TMM56_HUMAN transmembrane protein 56 245 TLC. integral to membrane breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(2)|skin(1)|urinary_tract(1) 12 all_lung(203;0.0232)|Lung NSC(277;0.0739) all cancers(265;0.133) TCAAAGTCATCTCTCACATCA 0.358000 9 119 0 0 1 0 0 NOL4 8715 broad.mit.edu 37 18 31803118 31803118 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr18:31803118C>T ENST00000261592.5 - 1 397 c.100G>A c.(100-102)Gaa>Aaa p.E34K RP11-379L18.1_ENST00000587528.1_RNA|NOL4_ENST00000269185.4_5'UTR|NOL4_ENST00000589544.1_Missense_Mutation_p.E34K NM_001198546.1|NM_003787.4 NP_001185475.1|NP_003778.2 O94818 NOL4_HUMAN nucleolar protein 4 34 nucleolus RNA binding NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 51 ACGATCCGTTCGTATTTTTTA 0.567000 34 83 0 0 1 0 0 SOCS5 9655 broad.mit.edu 37 2 46985978 46985978 + Silent SNP C C T rs17853110 TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:46985978C>T ENST00000306503.5 + 2 481 c.309C>T c.(307-309)acC>acT p.T103T SOCS5_ENST00000394861.2_Silent_p.T103T NM_014011.4 NP_054730.1 O75159 SOCS5_HUMAN suppressor of cytokine signaling 5 103 cell growth|cytokine-mediated signaling pathway|intracellular signal transduction|negative regulation of signal transduction|negative regulation of T-helper 2 cell differentiation|positive regulation of T-helper 1 cell differentiation|regulation of growth p.T103T(1) breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(9)|ovary(2) 22 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) LUSC - Lung squamous cell carcinoma(58;0.114) CTTGTGTTACCCCAGGAACAA 0.418000 25 63 0 0 1 0 0 DMWD 1762 broad.mit.edu 37 19 46289648 46289648 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:46289648G>A ENST00000270223.6 - 3 1151 c.1106C>T c.(1105-1107)tCc>tTc p.S369F DMWD_ENST00000377735.3_Missense_Mutation_p.S369F NM_004943.1 NP_004934.1 Q09019 DMWD_HUMAN dystrophia myotonica, WD repeat containing 369 meiosis central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1) 16 Ovarian(192;0.0308)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.00604)|GBM - Glioblastoma multiforme(486;0.0807)|Epithelial(262;0.236) GTTGACCCAGGACTTGTGGCC 0.672000 5 188 0 0 1 0 0 DNAH10 196385 broad.mit.edu 37 12 124416307 124416307 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:124416307C>T ENST00000409039.3 + 74 12712 c.12687C>T c.(12685-12687)tcC>tcT p.S4229S CCDC92_ENST00000544798.1_Intron|DNAH10OS_ENST00000514254.2_Intron NM_207437.3 NP_997320.2 Q8IVF4 DYH10_HUMAN dynein, axonemal, heavy chain 10 4229 microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 52 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346) CAGGACTCTCCCCCACTTCGG 0.522000 35 92 0 0 1 0 0 FER1L5 90342 broad.mit.edu 37 2 97370421 97370421 + RNA SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:97370421G>A ENST00000457909.1 + 0 5669 A0AVI2 FR1L5_HUMAN fer-1-like 5 (C. elegans) integral to membrane NS(1)|autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(9)|large_intestine(9)|lung(6)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2) 38 TCCAGCCCCAGGAGACTAATT 0.488000 19 61 0 0 1 0 0 MKL2 57496 broad.mit.edu 37 16 14341234 14341234 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr16:14341234C>T ENST00000571589.1 + 12 2289 c.2117C>T c.(2116-2118)cCa>cTa p.P706L MKL2_ENST00000318282.5_Intron|MKL2_ENST00000574045.1_Intron|MKL2_ENST00000341243.5_Missense_Mutation_p.P695L NM_014048.3 NP_054767.3 Q9ULH7 MKL2_HUMAN MKL/myocardin-like 2 695 Gln-rich. cell differentiation|muscle organ development|positive regulation of striated muscle tissue development|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent identical protein binding|nucleic acid binding|transcription coactivator activity breast(3)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(6)|liver(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 CAGGGACAGCCACCGCCTGCT 0.577000 13 63 0 0 1 0 0 CSPG4 1464 broad.mit.edu 37 15 75982425 75982425 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr15:75982425C>T ENST00000308508.5 - 3 1073 c.981G>A c.(979-981)ctG>ctA p.L327L NM_001897.4 NP_001888.2 Q6UVK1 CSPG4_HUMAN chondroitin sulfate proteoglycan 4 327 Globular or compact configuration stabilized by disulfide bonds.|Laminin G-like 2.|Neurite growth inhibition (By similarity). angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane protein kinase binding|signal transducer activity breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4) 48 CCTCTGCATCCAGCCCCCCGA 0.627000 10 31 0 0 1 0 0 CPA1 1357 broad.mit.edu 37 7 130025110 130025110 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:130025110C>T ENST00000011292.3 + 8 1061 c.911C>T c.(910-912)tCc>tTc p.S304F CPA1_ENST00000484324.1_Missense_Mutation_p.S216F NM_001868.2 NP_001859.1 P15085 CBPA1_HUMAN carboxypeptidase A1 (pancreatic) 304 proteolysis extracellular space metallocarboxypeptidase activity|zinc ion binding endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1) 21 Melanoma(18;0.0435) GCCTTCATCTCCATCCACAGC 0.527000 63 154 0 0 1 0 0 LRP1B 53353 broad.mit.edu 37 2 141458169 141458169 + Missense_Mutation SNP T T A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:141458169T>A ENST00000389484.3 - 41 7420 c.6449A>T c.(6448-6450)gAc>gTc p.D2150V NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 2150 EGF-like 5. protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) GCCACCATTGTCCCTGGCACA 0.393000 TSP Lung(27;0.18) 59 170 0 0 1 0 0 CYP2J2 1573 broad.mit.edu 37 1 60370665 60370665 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:60370665C>T ENST00000371204.3 - 7 1112 c.1069G>A c.(1069-1071)Gag>Aag p.E357K CYP2J2_ENST00000492633.1_5'UTR NM_000775.2 NP_000766.2 P51589 CP2J2_HUMAN cytochrome P450, family 2, subfamily J, polypeptide 2 357 epoxygenase P450 pathway|linoleic acid metabolic process|regulation of heart contraction|xenobiotic metabolic process endoplasmic reticulum membrane|microsome arachidonic acid 11,12-epoxygenase activity|arachidonic acid 14,15-epoxygenase activity|aromatase activity|electron carrier activity|heme binding|linoleic acid epoxygenase activity NS(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|skin(1) 26 all_cancers(7;0.000396) GGCATGGACTCCCGGGCGGCT 0.502000 5 164 0 0 1 0 0 OR1S1 219959 broad.mit.edu 37 11 57982953 57982953 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:57982953G>A ENST00000309433.6 + 1 737 c.737G>A c.(736-738)gGa>gAa p.G246E NM_001004458.1 NP_001004458.1 Q8NH92 OR1S1_HUMAN olfactory receptor, family 1, subfamily S, member 1 246 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(24)|kidney(1)|large_intestine(1)|liver(1)|lung(10)|prostate(1)|skin(2)|stomach(3)|urinary_tract(3) 48 Breast(21;0.0589) TCCACACAGGGAAAGTGGAAA 0.453000 25 63 0 0 1 0 0 APOB 338 broad.mit.edu 37 2 21225822 21225822 + Nonsense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:21225822G>A ENST00000233242.1 - 29 12599 c.12472C>T c.(12472-12474)Cag>Tag p.Q4158* NM_000384.2 NP_000375.2 P04114 APOB_HUMAN apolipoprotein B 4158 cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6) 305 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) TGGCCTTCCTGAGTCAACAGT 0.488000 55 110 0 0 1 0 0 CNTNAP2 26047 broad.mit.edu 37 7 147336399 147336399 + Splice_Site SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:147336399G>A ENST00000361727.3 + 13 2614 c.e13+1 NM_014141.5 NP_054860.1 Q9UHC6 CNTP2_HUMAN contactin associated protein-like 2 behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex receptor binding NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3) 188 Melanoma(164;0.153) all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794) OV - Ovarian serous cystadenocarcinoma(82;0.0319) AACACCCCAGGTAGGCTGAGA 0.438000 HNSCC(39;0.1) 24 60 0 0 1 0 0 TCERG1L 256536 broad.mit.edu 37 10 132932700 132932700 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:132932700C>T ENST00000368642.4 - 8 1286 c.1201G>A c.(1201-1203)Gat>Aat p.D401N NM_174937.3 NP_777597.2 Q5VWI1 TCRGL_HUMAN transcription elongation regulator 1-like 401 cervix(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 31 all_cancers(35;1.22e-10)|all_epithelial(44;2.65e-09)|Lung NSC(174;0.00188)|all_lung(145;0.00307)|Melanoma(40;0.0179)|all_neural(114;0.0424)|Breast(234;0.0743)|Colorectal(57;0.09) all cancers(32;0.000899)|OV - Ovarian serous cystadenocarcinoma(35;0.0021)|Epithelial(32;0.00276) CTGGACCCATCGCTGTTGTCA 0.493000 5 7 0 0 1 0 0 LIFR 3977 broad.mit.edu 37 5 38493762 38493762 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:38493762G>A ENST00000263409.4 - 14 2173 c.2011C>T c.(2011-2013)Ctt>Ttt p.L671F LIFR_ENST00000453190.2_Missense_Mutation_p.L671F|LIFR_ENST00000503088.1_5'UTR NM_002310.5 NP_002301.1 P42702 LIFR_HUMAN leukemia inhibitory factor receptor alpha 671 Fibronectin type-III 5. positive regulation of cell proliferation extracellular region|integral to plasma membrane ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2) 78 all_lung(31;0.00021) CAGTCCATAAGGCATGGTTCC 0.428000 T PLAG1 salivary adenoma 35 230 0 0 1 0 0 CCT8L2 150160 broad.mit.edu 37 22 17072874 17072874 + Nonsense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr22:17072874C>T ENST00000359963.3 - 1 826 c.567G>A c.(565-567)tgG>tgA p.W189* NM_014406.4 NP_055221.1 Q96SF2 TCPQM_HUMAN chaperonin containing TCP1, subunit 8 (theta)-like 2 189 cellular protein metabolic process cytoplasm anion channel activity|ATP binding|calcium-activated potassium channel activity breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1) 67 all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977) all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175) CCTTGATAGCCCAGCAGGCGT 0.622000 52 85 0 0 1 0 0 LRRC37A11P 342666 broad.mit.edu 37 17 37187770 37187770 + RNA SNP T T C TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:37187770T>C ENST00000425901.2 + 0 1612 NR_033753.2 TTGAACATTCTACACCCCTGA 0.498000 57 128 0 0 1 0 0 STK4 6789 broad.mit.edu 37 20 43703711 43703711 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr20:43703711C>T ENST00000372806.3 + 11 1453 c.1358C>T c.(1357-1359)cCc>cTc p.P453L STK4_ENST00000372801.1_3'UTR|STK4_ENST00000499879.2_Missense_Mutation_p.P398L NM_006282.2 NP_006273.1 Q13043 STK4_HUMAN serine/threonine kinase 4 453 SARAH. apoptosis|cell morphogenesis|hippo signaling cascade|intracellular protein kinase cascade|negative regulation of canonical Wnt receptor signaling pathway|peptidyl-serine phosphorylation|positive regulation of apoptosis|protein autophosphorylation cytoplasm|nucleus ATP binding|magnesium ion binding|protein homodimerization activity|protein serine/threonine kinase activator activity|protein serine/threonine kinase activity|transcription factor binding NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(2) 20 Myeloproliferative disorder(115;0.0122) GCCCTGGACCCCATGATGGAG 0.517000 25 47 0 0 1 0 0 RPN1 6184 broad.mit.edu 37 3 128345650 128345650 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:128345650C>T ENST00000296255.3 - 6 1110 c.1062G>A c.(1060-1062)agG>agA p.R354R RPN1_ENST00000497289.1_Silent_p.R182R|RPN1_ENST00000490166.1_5'UTR NM_002950.3 NP_002941.1 P04843 RPN1_HUMAN ribophorin I 354 post-translational protein modification|protein N-linked glycosylation via asparagine integral to membrane|melanosome|oligosaccharyltransferase complex|rough microsome dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(2)|stomach(2) 13 GBM - Glioblastoma multiforme(114;0.189) GGTCCACAAACCTCATCTTCA 0.463000 T EVI1 AML 28 71 0 0 1 0 0 CLCA4 22802 broad.mit.edu 37 1 87025710 87025710 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:87025710G>A ENST00000370563.3 + 2 297 c.255G>A c.(253-255)aaG>aaA p.K85K CLCA4_ENST00000263723.5_5'UTR NM_012128.3 NP_036260.2 Q14CN2 CLCA4_HUMAN chloride channel accessory 4 85 apical plasma membrane|extracellular region|integral to plasma membrane chloride channel activity breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 44 Lung NSC(277;0.238) all cancers(265;0.0202)|Epithelial(280;0.0404) AGAATTGGAAGGAAAATCCTC 0.299000 26 70 0 0 1 0 0 LRP5 4041 broad.mit.edu 37 11 68207275 68207275 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:68207275C>T ENST00000294304.7 + 21 4485 c.4379C>T c.(4378-4380)tCc>tTc p.S1460F NM_002335.2 NP_002326.2 O75197 LRP5_HUMAN low density lipoprotein receptor-related protein 5 1460 adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex protein binding|receptor activity autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 ATGATGAGCTCCGTGAGCCTG 0.682000 11 15 0 0 1 0 0 ASZ1 136991 broad.mit.edu 37 7 117020055 117020055 + Missense_Mutation SNP T T G TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:117020055T>G ENST00000284629.2 - 10 1054 c.992A>C c.(991-993)aAa>aCa p.K331T NM_130768.2 NP_570124.1 Q8WWH4 ASZ1_HUMAN ankyrin repeat, SAM and basic leucine zipper domain containing 1 331 SAM. cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis pi-body signal transducer activity breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(3)|skin(1) 24 Lung NSC(10;0.00156)|all_lung(10;0.00175) STAD - Stomach adenocarcinoma(10;0.000512) CTGTAGTTCTTTAAGAGCAGC 0.299000 6 154 0 0 1 0 0 KIF12 113220 broad.mit.edu 37 9 116854905 116854905 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:116854905G>A ENST00000374118.3 - 14 1437 c.1200C>T c.(1198-1200)gcC>gcT p.A400A NM_138424.1 NP_612433.1 Q96FN5 KIF12_HUMAN kinesin family member 12 533 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1) 17 TGCCACCTGAGGCCTCAGGGT 0.652000 4 9 0 0 1 0 0 RADIL 55698 broad.mit.edu 37 7 4874703 4874703 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:4874703C>T ENST00000399583.3 - 4 1138 c.951G>A c.(949-951)ctG>ctA p.L317L RADIL_ENST00000536091.1_Silent_p.L317L|RADIL_ENST00000538469.1_Silent_p.L77L NM_018059.4 NP_060529.4 Q96JH8 RADIL_HUMAN Ras association and DIL domains 317 FHA. cell adhesion|multicellular organismal development|signal transduction protein binding NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 Ovarian(82;0.0175) UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15) GGATGGGCTCCAGGACCAGCC 0.697000 7 16 0 0 1 0 0 JOSD2 126119 broad.mit.edu 37 19 51013604 51013604 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:51013604G>A ENST00000598418.1 - 2 338 c.85C>T c.(85-87)Ctc>Ttc p.L29F JOSD2_ENST00000595669.1_Missense_Mutation_p.L29F|JOSD2_ENST00000391815.3_Missense_Mutation_p.L29F|JOSD2_ENST00000601423.1_Missense_Mutation_p.L29F NM_001270639.1|NM_001270640.1 NP_001257568.1|NP_001257569.1 Q8TAC2 JOS2_HUMAN Josephin domain containing 2 29 Josephin. protein deubiquitination ubiquitin-specific protease activity kidney(1)|lung(3)|prostate(1) 5 all_neural(266;0.131) OV - Ovarian serous cystadenocarcinoma(262;0.00743)|GBM - Glioblastoma multiforme(134;0.0364) ACGTTGTTGAGGGCGTGGACA 0.657000 54 124 0 0 1 0 0 DNAH8 1769 broad.mit.edu 37 6 38749117 38749117 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:38749117C>T ENST00000359357.3 + 14 1830 c.1576C>T c.(1576-1578)Cgc>Tgc p.R526C DNAH8_ENST00000441566.1_Missense_Mutation_p.R526C|DNAH8_ENST00000449981.2_Missense_Mutation_p.R743C dynein, axonemal, heavy chain 8 NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4) 260 GCAGCTCTATCGCCGGATAAG 0.368000 43 112 0 0 1 0 0 CT47B1 643311 broad.mit.edu 37 X 120009255 120009255 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chrX:120009255C>T ENST00000371311.3 - 1 524 c.270G>A c.(268-270)gcG>gcA p.A90A NM_001145718.1 NP_001139190.1 P0C2W7 CT47B_HUMAN cancer/testis antigen family 47, member B1 90 breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|lung(9)|ovary(1)|skin(1) 22 cttcctccGTCGCGGGCCCGA 0.711000 8 33 0 0 1 0 0 SLC35F3 148641 broad.mit.edu 37 1 234452438 234452438 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:234452438G>A ENST00000366618.3 + 5 1064 c.919G>A c.(919-921)Gtg>Atg p.V307M SLC35F3_ENST00000366617.3_Missense_Mutation_p.V238M NM_173508.2 NP_775779.1 Q8IY50 S35F3_HUMAN solute carrier family 35, member F3 238 transport integral to membrane breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|urinary_tract(1) 32 Ovarian(103;0.0454) all_cancers(173;0.145)|Prostate(94;0.0885) OV - Ovarian serous cystadenocarcinoma(106;0.00531) CATCGCACTGGTGGTGGCCTC 0.602000 167 176 0 0 1 0 0 DNAH3 55567 broad.mit.edu 37 16 21008625 21008625 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr16:21008625C>T ENST00000261383.3 - 44 6580 c.6581G>A c.(6580-6582)gGa>gAa p.G2194E DNAH3_ENST00000415178.1_3'UTR NM_017539.1 NP_060009.1 Q8TD57 DYH3_HUMAN dynein, axonemal, heavy chain 3 2194 AAA 3 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6) 202 GBM - Glioblastoma multiforme(48;0.207) ATTCCTTCCTCCCCCGGGGGG 0.542000 6 138 0 0 1 0 0 ZNF804B 219578 broad.mit.edu 37 7 88964063 88964063 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:88964063G>A ENST00000333190.4 + 4 2376 c.1767G>A c.(1765-1767)aaG>aaA p.K589K NM_181646.2 NP_857597.1 A4D1E1 Z804B_HUMAN zinc finger protein 804B 589 intracellular zinc ion binding NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9) 144 all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151) STAD - Stomach adenocarcinoma(171;0.0513) CATCTCTAAAGGATTGTGCTG 0.378000 HNSCC(36;0.09) 26 106 0 0 1 0 0 GFRA3 2676 broad.mit.edu 37 5 137588685 137588685 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:137588685G>A ENST00000274721.3 - 8 1421 c.1175C>T c.(1174-1176)cCc>cTc p.P392L GFRA3_ENST00000378362.3_Missense_Mutation_p.P361L NM_001496.3 NP_001487.2 O60609 GFRA3_HUMAN GDNF family receptor alpha 3 392 peripheral nervous system development anchored to membrane|cytoplasm|extrinsic to membrane|intracellular membrane-bounded organelle receptor binding central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(1) 12 KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592) CAGAATCAAGGGAAGCGTGCA 0.562000 9 16 0 0 1 0 0 KIAA1549 57670 broad.mit.edu 37 7 138602964 138602964 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:138602964C>T ENST00000440172.1 - 2 1456 c.1408G>A c.(1408-1410)Gac>Aac p.D470N KIAA1549_ENST00000422774.1_Missense_Mutation_p.D470N|KIAA1549_ENST00000242365.4_Missense_Mutation_p.D420N NM_001164665.1|NM_020910.2 NP_001158137.1|NP_065961.2 Q9HCM3 K1549_HUMAN KIAA1549 470 integral to membrane KIAA1549/BRAF(703) large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2) 7 TCAGAGAAGTCTGCTACGACG 0.483000 O BRAF pilocytic astrocytoma 17 70 0 0 1 0 0 CSF2RB 1439 broad.mit.edu 37 22 37325748 37325748 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr22:37325748G>A ENST00000262825.5 + 6 834 c.617G>A c.(616-618)aGc>aAc p.S206N CSF2RB_ENST00000406230.1_Missense_Mutation_p.S206N|CSF2RB_ENST00000403662.3_Missense_Mutation_p.S206N|CSF2RB_ENST00000536485.1_Missense_Mutation_p.S147N NM_000395.2 NP_000386.1 P32927 IL3RB_HUMAN colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage) 206 Fibronectin type-III 1. respiratory gaseous exchange granulocyte macrophage colony-stimulating factor receptor complex cytokine receptor activity breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(3)|pancreas(1)|skin(5)|upper_aerodigestive_tract(2) 42 Sargramostim(DB00020) ATGCCCAGCAGCACCTACGTG 0.667000 33 62 0 0 1 0 0 C2orf73 129852 broad.mit.edu 37 2 54586099 54586099 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:54586099C>T ENST00000398634.2 + 4 434 c.392C>T c.(391-393)cCa>cTa p.P131L C2orf73_ENST00000405749.1_Intron|C2orf73_ENST00000491538.1_Intron NM_001100396.1 NP_001093866.1 Q8N5S3 CB073_HUMAN chromosome 2 open reading frame 73 131 breast(2) 2 TTTTTAGTACCACTTGCCTCT 0.289000 4 6 0 0 1 0 0 TBC1D9 23158 broad.mit.edu 37 4 141622658 141622658 + Splice_Site SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:141622658C>T ENST00000442267.2 - 2 315 c.241_splice c.e2+1 p.G81_splice NM_015130.2 NP_055945.2 Q6ZT07 TBCD9_HUMAN TBC1 domain family, member 9 (with GRAM domain) 81 intracellular calcium ion binding|Rab GTPase activator activity endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1) 31 all_hematologic(180;0.162) Medulloblastoma(177;0.00498) GGTTGCTTACCACAGGCGATG 0.478000 10 34 0 0 1 0 0 SP5 389058 broad.mit.edu 37 2 171573719 171573719 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:171573719G>A ENST00000375281.3 + 2 1164 c.1002G>A c.(1000-1002)ggG>ggA p.G334G NM_001003845.2 NP_001003845.1 Q6BEB4 SP5_HUMAN Sp5 transcription factor 334 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|endometrium(2)|lung(1)|prostate(1) 5 TCTTCTGCGGGAAGAGCTTCA 0.672000 7 31 0 0 1 0 0 MICAL2 9645 broad.mit.edu 37 11 12183950 12183950 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:12183950C>T ENST00000256194.4 + 3 536 c.248C>T c.(247-249)tCg>tTg p.S83L MICAL2_ENST00000527546.1_Missense_Mutation_p.S83L|MICAL2_ENST00000379612.3_Missense_Mutation_p.S83L|MICAL2_ENST00000537344.1_Missense_Mutation_p.S83L|MICAL2_ENST00000342902.5_Missense_Mutation_p.S83L NM_014632.2 NP_055447.1 O94851 MICA2_HUMAN microtubule associated monooxygenase, calponin and LIM domain containing 2 83 cytoplasm|cytoskeleton monooxygenase activity|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 47 Epithelial(150;0.00552) CGAGGGAAGTCGTGCACGAAC 0.502000 28 22 0 0 1 0 0 TBX6 6911 broad.mit.edu 37 16 30102222 30102222 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr16:30102222G>A ENST00000553607.1 - 2 903 c.210C>T c.(208-210)ccC>ccT p.P70P TBX6_ENST00000279386.2_Silent_p.P70P|TBX6_ENST00000395224.2_Silent_p.P70P O95947 TBX6_HUMAN T-box 6 70 anatomical structure morphogenesis|mesoderm development|multicellular organismal development nucleus DNA binding|sequence-specific DNA binding transcription factor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1) 9 CCATGGCAGGGGGCAGAAGGG 0.667000 28 42 0 0 1 0 0 NBEA 26960 broad.mit.edu 37 13 36141139 36141139 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr13:36141139C>T ENST00000540320.1 + 45 7554 c.7020C>T c.(7018-7020)ttC>ttT p.F2340F NBEA_ENST00000310336.4_Silent_p.F2340F|NBEA_ENST00000537702.1_Silent_p.F133F|NBEA_ENST00000379939.2_Silent_p.F2337F|NBEA_ENST00000400445.3_Silent_p.F2340F Q8NFP9 NBEA_HUMAN neurobeachin 2340 BEACH. cytosol|endomembrane system|plasma membrane|trans-Golgi network protein binding NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 108 Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207) all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199) CAGGAAACTTCAGGGATCTAT 0.363000 10 96 0 0 1 0 0 SPAG8 26206 broad.mit.edu 37 9 35809942 35809942 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:35809942G>A ENST00000484764.1 - 7 1467 c.1427C>T c.(1426-1428)cCt>cTt p.P476L SPAG8_ENST00000479751.1_5'UTR|SPAG8_ENST00000340291.2_Intron|SPAG8_ENST00000396638.2_Missense_Mutation_p.P484L Q99932 SPAG8_HUMAN sperm associated antigen 8 0 acrosomal vesicle|membrane NS(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(1)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 all_epithelial(49;0.161) LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194) CCCTCAGAAAGGAGTCATTCT 0.502000 109 239 0 0 1 0 0 GALNT3 2591 broad.mit.edu 37 2 166613634 166613634 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:166613634G>A ENST00000392701.3 - 7 2090 c.1315C>T c.(1315-1317)Ctt>Ttt p.L439F GALNT3_ENST00000409882.1_Missense_Mutation_p.L177F NM_004482.3 NP_004473.2 Q14435 GALT3_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 3 (GalNAc-T3) 439 protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine Golgi cisterna membrane|integral to membrane|membrane fraction|nucleus|perinuclear region of cytoplasm calcium ion binding|manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding NS(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|skin(1) 20 ACTTCTGCAAGGCGAACTTGG 0.383000 26 64 0 0 1 0 0 KHDC3L 154288 broad.mit.edu 37 6 74073352 74073352 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:74073352G>A ENST00000370367.3 + 3 476 c.423G>A c.(421-423)cgG>cgA p.R141R NM_001017361.2 NP_001017361.1 KH domain containing 3-like, subcortical maternal complex member TAGAAGTCCGGGAGGCCGGGA 0.662000 45 63 0 0 1 0 0 CHD1 1105 broad.mit.edu 37 5 98236586 98236586 + Missense_Mutation SNP A A T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:98236586A>T ENST00000284049.3 - 6 937 c.788T>A c.(787-789)gTt>gAt p.V263D NM_001270.2 NP_001261.2 O14646 CHD1_HUMAN chromodomain helicase DNA binding protein 1 263 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding|methylated histone residue binding NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2) 49 all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117) COAD - Colon adenocarcinoma(37;0.0717) Epirubicin(DB00445) AGGTTGAGGAACATCCTCTCC 0.383000 49 72 0 0 1 0 0 LOC101927958 101927958 broad.mit.edu 37 2 239140725 239140725 + RNA SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:239140725G>A ENST00000456601.1 + 0 401 ATGCTGGCTGGAGAAATCCGG 0.498000 7 27 0 0 1 0 0 SLCO2B1 11309 broad.mit.edu 37 11 74883485 74883485 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:74883485C>T ENST00000289575.5 + 7 1238 c.843C>T c.(841-843)ctC>ctT p.L281L SLCO2B1_ENST00000532236.1_Silent_p.L165L|SLCO2B1_ENST00000531756.1_Silent_p.L26L|SLCO2B1_ENST00000526660.1_3'UTR|SLCO2B1_ENST00000454962.2_Silent_p.L54L|SLCO2B1_ENST00000341411.4_Silent_p.L54L|SLCO2B1_ENST00000525650.1_Silent_p.L137L|SLCO2B1_ENST00000428359.2_Silent_p.L259L NM_007256.4 NP_009187.1 O94956 SO2B1_HUMAN solute carrier organic anion transporter family, member 2B1 281 sodium-independent organic anion transport integral to membrane sodium-independent organic anion transmembrane transporter activity breast(2)|endometrium(1)|large_intestine(7)|lung(20)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 39 Ergoloid mesylate(DB01049) TGGGTTTCCTCATCGCTGCCG 0.562000 27 62 0 0 1 0 0 DCAKD 79877 broad.mit.edu 37 17 43101900 43101900 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:43101900G>A ENST00000452796.2 - 4 852 c.597C>T c.(595-597)tcC>tcT p.S199S DCAKD_ENST00000342350.5_Silent_p.S199S|DCAKD_ENST00000588499.1_Silent_p.S199S Q8WVC6 DCAKD_HUMAN dephospho-CoA kinase domain containing 199 DPCK. coenzyme A biosynthetic process ATP binding|dephospho-CoA kinase activity cervix(1)|endometrium(1)|large_intestine(1)|lung(2)|skin(1) 6 Prostate(33;0.155) GGTACTCCAGGGAGCGCTCCA 0.617000 33 72 0 0 1 0 0 CYP4A11 1579 broad.mit.edu 37 1 47400208 47400208 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:47400208C>T ENST00000310638.4 - 7 845 c.814G>A c.(814-816)Gct>Act p.A272T CYP4A11_ENST00000371904.4_Missense_Mutation_p.A273T|CYP4A11_ENST00000475477.1_5'UTR|CYP4A11_ENST00000457840.2_Missense_Mutation_p.G116D|CYP4A11_ENST00000371905.1_Missense_Mutation_p.A272T NM_000778.3 NP_000769.2 Q02928 CP4AB_HUMAN cytochrome P450, family 4, subfamily A, polypeptide 11 272 long-chain fatty acid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome alkane 1-monooxygenase activity|electron carrier activity|heme binding|oxygen binding endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2) 36 NADH(DB00157) TGTAGTTGAGCCTTCCTCAGT 0.537000 25 84 0 0 1 0 0 LMX1A 4009 broad.mit.edu 37 1 165173235 165173235 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:165173235G>A ENST00000342310.3 - 9 1413 c.1031C>T c.(1030-1032)tCc>tTc p.S344F LMX1A_ENST00000367893.4_Missense_Mutation_p.S344F|LMX1A_ENST00000489443.2_5'UTR|LMX1A_ENST00000294816.2_Missense_Mutation_p.S344F NM_177398.3 NP_796372.1 Q8TE12 LMX1A_HUMAN LIM homeobox transcription factor 1, alpha 344 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(2)|biliary_tract(1)|central_nervous_system(3)|cervix(2)|endometrium(4)|large_intestine(6)|lung(10)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(4) 35 all_hematologic(923;0.248) GTTACTGAGGGAGGTGTCGTC 0.517000 55 148 0 0 1 0 0 NGF 4803 broad.mit.edu 37 1 115828985 115828985 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:115828985C>T ENST00000369512.2 - 3 600 c.432G>A c.(430-432)ggG>ggA p.G144G RP4-663N10.1_ENST00000425449.1_RNA NM_002506.2 NP_002497.2 P01138 NGF_HUMAN nerve growth factor (beta polypeptide) 144 activation of MAPKK activity|activation of phospholipase C activity|anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|negative regulation of cell cycle|nerve growth factor processing|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|Ras protein signal transduction endosome|Golgi lumen growth factor activity|nerve growth factor receptor binding breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 13 Lung SC(450;0.211) all_cancers(81;1.07e-06)|all_epithelial(167;4.43e-06)|all_lung(203;2.86e-05)|Lung NSC(69;4.99e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179) Clenbuterol(DB01407) TGGTCTTATCCCCAACCCACA 0.517000 30 78 0 0 1 0 0 ADAM21P1 145241 broad.mit.edu 37 14 70713207 70713207 + RNA SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr14:70713207C>T ENST00000530196.1 - 0 1311 NR_003951.1 AGACATGATCCCTGGTTTAAG 0.438000 52 116 0 0 1 0 0 AGMO 392636 broad.mit.edu 37 7 15427106 15427106 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:15427106C>T ENST00000342526.3 - 9 1051 c.882G>A c.(880-882)aaG>aaA p.K294K NM_001004320.1 NP_001004320.1 Q6ZNB7 ALKMO_HUMAN alkylglycerol monooxygenase 294 ether lipid metabolic process|fatty acid biosynthetic process|membrane lipid metabolic process endoplasmic reticulum membrane|integral to membrane glyceryl-ether monooxygenase activity|iron ion binding breast(1)|kidney(1)|large_intestine(6)|liver(1)|lung(30)|prostate(1)|skin(2) 42 TGACAGAAAACTTATTGAAGA 0.378000 9 138 0 0 1 0 0 DUSP27 92235 broad.mit.edu 37 1 167096285 167096285 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:167096285G>A ENST00000361200.2 + 6 2083 c.1917G>A c.(1915-1917)gaG>gaA p.E639E DUSP27_ENST00000443333.1_Silent_p.E639E|DUSP27_ENST00000271385.5_Silent_p.E639E|DUSP27_ENST00000485151.1_Intron Q5VZP5 DUS27_HUMAN dual specificity phosphatase 27 (putative) 639 protein dephosphorylation protein tyrosine/serine/threonine phosphatase activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3) 89 CGCTGGAGGAGAGCCAGTCTA 0.637000 26 26 0 0 1 0 0 ZNF777 27153 broad.mit.edu 37 7 149152508 149152508 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:149152508C>T ENST00000247930.4 - 2 929 c.606G>A c.(604-606)caG>caA p.Q202Q NM_015694.2 NP_056509.2 Q9ULD5 ZN777_HUMAN zinc finger protein 777 202 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(5)|lung(17)|ovary(1)|skin(2)|urinary_tract(1) 26 Melanoma(164;0.165) OV - Ovarian serous cystadenocarcinoma(82;0.00358) GCCTCATGGCCTGGGCCTCCA 0.602000 52 260 0 0 1 0 0 ARHGAP35 2909 broad.mit.edu 37 19 47423977 47423977 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:47423977G>A ENST00000404338.3 + 1 2045 c.2045G>A c.(2044-2046)aGa>aAa p.R682K NM_004491.4 NP_004482.4 Q9NRY4 RHG35_HUMAN Rho GTPase activating protein 35 682 axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent cytosol DNA binding|Rho GTPase activator activity|transcription corepressor activity GAGAAGAGTAGAGAGTCCACG 0.468000 10 22 0 0 1 0 0 EPB41L3 23136 broad.mit.edu 37 18 5423443 5423443 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr18:5423443G>A ENST00000341928.2 - 11 1613 c.1273C>T c.(1273-1275)Cgc>Tgc p.R425C EPB41L3_ENST00000544123.1_Missense_Mutation_p.R425C|EPB41L3_ENST00000540638.2_Missense_Mutation_p.R425C|EPB41L3_ENST00000400111.3_Missense_Mutation_p.R425C|EPB41L3_ENST00000342933.3_Missense_Mutation_p.R425C|EPB41L3_ENST00000542652.2_5'UTR NM_012307.2 NP_036439.2 Q9Y2J2 E41L3_HUMAN erythrocyte membrane protein band 4.1-like 3 425 Hydrophilic. cortical actin cytoskeleton organization cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane actin binding|structural molecule activity breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 105 GGTGCTGGGCGATCTATCAAC 0.493000 7 120 0 0 1 0 0 ARHGAP21 57584 broad.mit.edu 37 10 24880874 24880874 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:24880874G>A ENST00000396432.2 - 22 4430 c.3944C>T c.(3943-3945)aCc>aTc p.T1315I ARHGAP21_ENST00000320481.6_Missense_Mutation_p.T1102I NM_020824.3 NP_065875.3 Q5T5U3 RHG21_HUMAN Rho GTPase activating protein 21 1314 Rho-GAP. signal transduction cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane GTPase activator activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1) 78 GACCATGTGGGTCATGTTGTC 0.443000 16 147 0 0 1 0 0 GJB5 2709 broad.mit.edu 37 1 35223603 35223603 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:35223603C>T ENST00000338513.1 + 2 845 c.672C>T c.(670-672)gcC>gcT p.A224A NM_005268.3 NP_005259.1 O95377 CXB5_HUMAN gap junction protein, beta 5, 31.1kDa 224 cell communication|epidermis development connexon complex|integral to membrane endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|stomach(1) 10 Myeloproliferative disorder(586;0.0393) AAGCTCAAGCCATGTGCACAG 0.567000 36 80 0 0 1 0 0 ITGA6 3655 broad.mit.edu 37 2 173344722 173344722 + Nonsense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:173344722C>T ENST00000375221.2 + 12 1812 c.1609C>T c.(1609-1611)Cag>Tag p.Q537* ITGA6_ENST00000409532.1_Nonsense_Mutation_p.Q379*|ITGA6_ENST00000343713.4_Nonsense_Mutation_p.Q493*|ITGA6_ENST00000264106.6_Nonsense_Mutation_p.Q537*|ITGA6_ENST00000409080.1_Nonsense_Mutation_p.Q498*|ITGA6_ENST00000264107.7_Nonsense_Mutation_p.Q498* P23229 ITA6_HUMAN integrin, alpha 6 537 blood coagulation|cell adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|positive regulation of apoptosis|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter integrin complex protein binding|receptor activity NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 44 OV - Ovarian serous cystadenocarcinoma(117;0.0979) ATTCAGCCTCCAGGTTAAATC 0.378000 13 44 0 0 1 0 0 CDH10 1008 broad.mit.edu 37 5 24488123 24488123 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:24488123G>A ENST00000264463.4 - 12 2523 c.2016C>T c.(2014-2016)atC>atT p.I672I CDH10_ENST00000502921.1_5'UTR NM_006727.3 NP_006718.2 Q9Y6N8 CAD10_HUMAN cadherin 10, type 2 (T2-cadherin) 672 adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4) 185 STAD - Stomach adenocarcinoma(35;0.0556) TCAGGGTGCCGATATCAAAGG 0.468000 HNSCC(23;0.051) 59 42 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179516472 179516472 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:179516472G>A ENST00000589042.1 - 206 39608 c.39384C>T c.(39382-39384)acC>acT p.T13128T TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Silent_p.T11621T|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Silent_p.T10694T|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000589487.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 11481 Ig-like 87. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.T10694T(1) NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TAGGTGGTACGGTCACTAAAG 0.438000 21 25 0 0 1 0 0 SLC16A12 387700 broad.mit.edu 37 10 91203595 91203595 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:91203595C>T ENST00000341233.4 - 4 522 c.132G>A c.(130-132)gtG>gtA p.V44V SLC16A12_ENST00000371790.4_Silent_p.V74V NM_213606.3 NP_998771.3 Q6ZSM3 MOT12_HUMAN solute carrier family 16, member 12 44 integral to membrane|plasma membrane symporter activity central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(4)|skin(1)|stomach(1) 14 TCTGGAACTCCACAAAAAAAA 0.368000 15 40 0 0 1 0 0 POSTN 10631 broad.mit.edu 37 13 38154822 38154822 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr13:38154822C>T ENST00000379747.4 - 11 1522 c.1405G>A c.(1405-1407)Gaa>Aaa p.E469K POSTN_ENST00000379749.4_Missense_Mutation_p.E469K|POSTN_ENST00000541481.1_Missense_Mutation_p.E469K|POSTN_ENST00000379743.4_Missense_Mutation_p.E469K|POSTN_ENST00000541179.1_Missense_Mutation_p.E469K|POSTN_ENST00000379742.4_Missense_Mutation_p.E469K NM_006475.2 NP_006466.2 Q15063 POSTN_HUMAN periostin, osteoblast specific factor 469 FAS1 3. cell adhesion|skeletal system development proteinaceous extracellular matrix heparin binding cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 59 Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743) all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154) CATGAATTTTCAATGCAGACA 0.423000 62 136 0 0 1 0 0 PAPLN 89932 broad.mit.edu 37 14 73739222 73739222 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr14:73739222G>A ENST00000381166.3 + 24 3385 c.3283G>A c.(3283-3285)Gga>Aga p.G1095R PAPLN_ENST00000554301.1_Silent_p.R1229R|PAPLN_ENST00000340738.5_Silent_p.R1202R|RP4-647C14.3_ENST00000556578.1_RNA|PAPLN_ENST00000427855.1_Silent_p.R1229R|PAPLN_ENST00000555445.1_Silent_p.R1213R O95428 PPN_HUMAN papilin, proteoglycan-like sulfated glycoprotein 876 Ig-like C2-type 2. proteinaceous extracellular matrix metalloendopeptidase activity|serine-type endopeptidase inhibitor activity|zinc ion binding NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(3) 42 BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468) CCCAGCCCAGGGACCCTGGCA 0.557000 70 199 0 0 1 0 0 SPDYE3 441272 broad.mit.edu 37 7 99917216 99917216 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:99917216G>A ENST00000332397.6 + 9 1559 c.1375G>A c.(1375-1377)Gac>Aac p.D459N SPDYE3_ENST00000437326.2_Missense_Mutation_p.D82N NM_001004351.4 NP_001004351.3 A6NKU9 SPDE3_HUMAN speedy/RINGO cell cycle regulator family member E3 459 endometrium(10)|kidney(1)|lung(8)|urinary_tract(1) 20 GGAGGAGGACGACGAGGCCCC 0.557000 43 206 0 0 1 0 0 MXRA5 25878 broad.mit.edu 37 X 3229300 3229300 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chrX:3229300C>T ENST00000217939.6 - 7 7098 c.6944G>A c.(6943-6945)gGg>gAg p.G2315E NM_015419.3 NP_056234.2 Q9NR99 MXRA5_HUMAN matrix-remodelling associated 5 2315 Ig-like C2-type 7. extracellular region NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2) 157 all_lung(23;0.00031)|Lung NSC(23;0.000946) CTCCCTCATCCCCACTTCGTT 0.547000 10 171 0 0 1 0 0 WDR72 256764 broad.mit.edu 37 15 53992098 53992098 + Silent SNP G G A rs146989277 TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr15:53992098G>A ENST00000396328.1 - 13 1853 c.1614C>T c.(1612-1614)tcC>tcT p.S538S WDR72_ENST00000557913.1_Silent_p.S535S|WDR72_ENST00000559418.1_Silent_p.S548S|WDR72_ENST00000360509.5_Silent_p.S538S NM_001277176.1|NM_182758.2 NP_001264105.1|NP_877435.3 Q3MJ13 WDR72_HUMAN WD repeat domain 72 538 p.S538S(1) NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 71 all cancers(107;0.0511) GGAGAGCCACGGAATGGTCAC 0.443000 54 106 0 0 1 0 0 TBC1D9 23158 broad.mit.edu 37 4 141622709 141622709 + Nonsense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:141622709G>A ENST00000442267.2 - 2 264 c.190C>T c.(190-192)Cga>Tga p.R64* NM_015130.2 NP_055945.2 Q6ZT07 TBCD9_HUMAN TBC1 domain family, member 9 (with GRAM domain) 64 intracellular calcium ion binding|Rab GTPase activator activity endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1) 31 all_hematologic(180;0.162) Medulloblastoma(177;0.00498) TACAAGATTCGGTAAGGAGCG 0.522000 18 27 0 0 1 0 0 CRAT 1384 broad.mit.edu 37 9 131857719 131857719 + Missense_Mutation SNP T T C TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:131857719T>C ENST00000318080.2 - 14 2132 c.1838A>G c.(1837-1839)gAc>gGc p.D613G NM_000755.3|NM_001257363.1 NP_000746.2|NP_001244292.1 P43155 CACP_HUMAN carnitine O-acetyltransferase 613 energy derivation by oxidation of organic compounds|fatty acid beta-oxidation using acyl-CoA oxidase|transport endoplasmic reticulum|mitochondrial inner membrane|peroxisomal matrix carnitine O-acetyltransferase activity central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(2) 13 UCEC - Uterine corpus endometrioid carcinoma (4;0.0178) L-Carnitine(DB00583) GGCACGCATGTCCAGGAGCGC 0.672000 34 66 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179542519 179542519 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:179542519C>T ENST00000589042.1 - 146 34344 c.34120G>A c.(34120-34122)Gaa>Aaa p.E11374K TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.E11057K|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E10130K|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000589487.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 11057 Glu-rich.|Pro-rich. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) ACTTCCTCTTCCTCAGGTAGA 0.438000 87 124 0 0 1 0 0 DIDO1 11083 broad.mit.edu 37 20 61525505 61525505 + Missense_Mutation SNP G G T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr20:61525505G>T ENST00000266070.4 - 12 2939 c.2614C>A c.(2614-2616)Caa>Aaa p.Q872K DIDO1_ENST00000395335.2_Missense_Mutation_p.Q872K|DIDO1_ENST00000395343.1_Missense_Mutation_p.Q872K|DIDO1_ENST00000395340.1_Missense_Mutation_p.Q872K NM_033081.2 NP_149072.2 Q9BTC0 DIDO1_HUMAN death inducer-obliterator 1 872 apoptosis|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1) 99 Breast(26;5.68e-08) GACAATTTTTGTTTTTTCGGA 0.507000 75 177 6.31949e-53 6.39991e-53 1 1 0 ZNF792 126375 broad.mit.edu 37 19 35449035 35449035 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:35449035G>A ENST00000404801.1 - 4 2110 c.1724C>T c.(1723-1725)cCt>cTt p.P575L ZNF792_ENST00000605484.1_Missense_Mutation_p.P508L NM_175872.4 NP_787068.3 Q3KQV3 ZN792_HUMAN zinc finger protein 792 575 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5) 12 all_lung(56;4.18e-08)|Lung NSC(56;6.62e-08)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0849) AATGAGGGTAGGCCTTTGGTT 0.502000 17 26 0 0 1 0 0 TPTE 7179 broad.mit.edu 37 21 10920118 10920118 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr21:10920118C>T ENST00000298232.7 - 18 1449 c.1082G>A c.(1081-1083)aGc>aAc p.S361N TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000342420.5_Missense_Mutation_p.S341N|TPTE_ENST00000361285.4_Missense_Mutation_p.S379N NM_199259.2 NP_954868.1 P56180 TPTE_HUMAN transmembrane phosphatase with tensin homology 379 Phosphatase tensin-type. signal transduction integral to membrane ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity p.S361T(2)|p.S379T(2) NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1) 130 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) AAATTTTTCGCTGTGGGTTTT 0.383000 7 120 0 0 1 0 0 TULP4 56995 broad.mit.edu 37 6 158922831 158922831 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:158922831C>T ENST00000367097.3 + 13 3493 c.2136C>T c.(2134-2136)tcC>tcT p.S712S TULP4_ENST00000367094.2_Intron NM_020245.4 NP_064630.2 Q9NRJ4 TULP4_HUMAN tubby like protein 4 712 intracellular signal transduction|response to nutrient cytoplasm protein binding|sequence-specific DNA binding transcription factor activity endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 49 Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171) OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05) TGGTGCAGTCCCTACTGGCCA 0.572000 6 180 0 0 1 0 0 MAGEC2 51438 broad.mit.edu 37 X 141291169 141291169 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chrX:141291169G>A ENST00000247452.3 - 3 952 c.605C>T c.(604-606)cCt>cTt p.P202L NM_016249.3 NP_057333.1 Q9UBF1 MAGC2_HUMAN melanoma antigen family C, 2 202 MAGE. cytoplasm|nucleus NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3) 47 Acute lymphoblastic leukemia(192;6.56e-05) GAAGTGGTCAGGGCCCACTTC 0.473000 HNSCC(46;0.14) 94 37 0 0 1 0 0 OR6X1 390260 broad.mit.edu 37 11 123624380 123624380 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:123624380G>A ENST00000327930.2 - 1 873 c.847C>T c.(847-849)Ctg>Ttg p.L283L NM_001005188.1 NP_001005188.1 Q8NH79 OR6X1_HUMAN olfactory receptor, family 6, subfamily X, member 1 283 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(3)|endometrium(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2) 23 Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279) AAGGGATTCAGAAGGGGGGTG 0.433000 48 54 0 0 1 0 0 MYRF 745 broad.mit.edu 37 11 61544922 61544922 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:61544922G>A ENST00000278836.5 + 12 1873 c.1777G>A c.(1777-1779)Gaa>Aaa p.E593K MYRF_ENST00000327797.1_Missense_Mutation_p.E218K|MYRF_ENST00000265460.5_Missense_Mutation_p.E584K|TMEM258_ENST00000535042.1_Intron NM_001127392.1 NP_001120864.1 myelin regulatory factor GCGCGCCAAGGAACACGTGCA 0.706000 9 24 0 0 1 0 0 GML 2765 broad.mit.edu 37 8 143921831 143921831 + Splice_Site SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:143921831G>A ENST00000220940.1 + 2 68 c.e2-1 NM_002066.2 NP_002057.1 Q99445 GML_HUMAN glycosylphosphatidylinositol anchored molecule like apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|negative regulation of cell proliferation anchored to membrane|extrinsic to membrane|plasma membrane NS(1)|central_nervous_system(2)|endometrium(1)|large_intestine(6)|lung(8) 18 all_cancers(97;4.26e-11)|all_epithelial(106;1.85e-08)|Lung NSC(106;0.000274)|all_lung(105;0.000755)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155) CTTCCCTTCAGGTCCAGGCTC 0.592000 33 53 0 0 1 0 0 ZNF98 148198 broad.mit.edu 37 19 22585663 22585663 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:22585663G>A ENST00000357774.5 - 3 302 c.181C>T c.(181-183)Ctg>Ttg p.L61L ZNF98_ENST00000601553.1_Silent_p.L61L NM_001098626.1 NP_001092096.1 A6NK75 ZNF98_HUMAN zinc finger protein 98 61 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2) 37 all_cancers(12;0.0536)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00542)|Hepatocellular(1079;0.244) CAGGTGATCAGGTCTGGCTTA 0.398000 4 167 0 0 1 0 0 GRIP1 23426 broad.mit.edu 37 12 66747243 66747243 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:66747243C>T ENST00000359742.4 - 24 3353 c.3113G>A c.(3112-3114)gGg>gAg p.G1038E GRIP1_ENST00000398016.3_Missense_Mutation_p.G986E|GRIP1_ENST00000286445.7_Missense_Mutation_p.G1023E Q9Y3R0 GRIP1_HUMAN glutamate receptor interacting protein 1 1038 PDZ 7. androgen receptor signaling pathway|intracellular signal transduction|positive regulation of transcription, DNA-dependent|synaptic transmission cell junction|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|postsynaptic membrane androgen receptor binding|beta-catenin binding|protein C-terminus binding|receptor signaling complex scaffold activity|transcription coactivator activity NS(3)|breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(19)|ovary(2)|prostate(2)|skin(1) 50 GBM - Glioblastoma multiforme(2;0.00069) GBM - Glioblastoma multiforme(28;0.0933) ATCTCCTGGCCCAGCTGGGCG 0.468000 73 156 0 0 1 0 0 SCN9A 6335 broad.mit.edu 37 2 167089911 167089911 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:167089911G>A ENST00000303354.6 - 21 4206 c.3866C>T c.(3865-3867)tCc>tTc p.S1289F AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000409672.1_Missense_Mutation_p.S1277F|SCN9A_ENST00000409435.1_Missense_Mutation_p.S1288F|SCN9A_ENST00000375387.4_Missense_Mutation_p.S1289F Q15858 SCN9A_HUMAN sodium channel, voltage-gated, type IX, alpha subunit 1288 voltage-gated sodium channel complex voltage-gated sodium channel activity NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 108 Lamotrigine(DB00555)|Lidocaine(DB00281) TGTCCGAAGGGATTTAATGGG 0.323000 17 25 0 0 1 0 0 ACTR3B 57180 broad.mit.edu 37 7 152522141 152522141 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:152522141C>T ENST00000256001.8 + 9 1019 c.885C>T c.(883-885)tcC>tcT p.S295S ACTR3B_ENST00000537264.1_Silent_p.S207S|ACTR3B_ENST00000377776.3_Silent_p.S295S|ACTR3B_ENST00000397282.2_Silent_p.S207S NM_020445.5 NP_065178.1 Q9P1U1 ARP3B_HUMAN ARP3 actin-related protein 3 homolog B (yeast) 295 regulation of actin filament polymerization cell projection|cytoplasm|cytoskeleton actin binding|ATP binding breast(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1) 13 all_hematologic(28;0.0592)|Prostate(32;0.191) OV - Ovarian serous cystadenocarcinoma(82;0.0287) UCEC - Uterine corpus endometrioid carcinoma (81;0.0434) TTATGGAGTCCATCTCAGATG 0.403000 9 95 0 0 1 0 0 PHACTR1 221692 broad.mit.edu 37 6 13185077 13185077 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:13185077C>T ENST00000379345.2 + 5 517 c.276C>T c.(274-276)tcC>tcT p.S92S PHACTR1_ENST00000379350.1_Intron|PHACTR1_ENST00000332995.7_Intron|PHACTR1_ENST00000457702.2_Intron Q9C0D0 PHAR1_HUMAN phosphatase and actin regulator 1 232 cell junction|cytoplasm|synapse actin binding|protein phosphatase inhibitor activity breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3) 26 Breast(50;0.0427)|Ovarian(93;0.12) all_hematologic(90;0.122)|Lung SC(78;0.195) Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239) TCCTCCTGTCCCAAGATCCTT 0.552000 58 164 0 0 1 0 0 KCNH8 131096 broad.mit.edu 37 3 19556837 19556837 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:19556837G>A ENST00000328405.2 + 14 2725 c.2459G>A c.(2458-2460)gGa>gAa p.G820E NM_144633.2 NP_653234.2 Q96L42 KCNH8_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 8 820 integral to membrane two-component sensor activity NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 77 ATTGAAGATGGAAACAGCAGT 0.358000 15 39 0 0 1 0 0 ZNF528 84436 broad.mit.edu 37 19 52919890 52919890 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:52919890C>T ENST00000360465.3 + 7 2211 c.1785C>T c.(1783-1785)caC>caT p.H595H ZNF528_ENST00000391788.2_3'UTR NM_032423.2 NP_115799.2 Q3MIS6 ZN528_HUMAN zinc finger protein 528 595 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(6)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 39 GBM - Glioblastoma multiforme(134;0.00249)|OV - Ovarian serous cystadenocarcinoma(262;0.00817) TCACCAATCACCATAGAATTC 0.428000 20 61 0 0 1 0 0 ZSCAN5A 79149 broad.mit.edu 37 19 56733577 56733577 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:56733577C>T ENST00000587340.1 - 7 1553 c.858G>A c.(856-858)ggG>ggA p.G286G ZSCAN5A_ENST00000592355.1_Silent_p.G285G|ZSCAN5A_ENST00000254165.3_Silent_p.G169G|ZSCAN5A_ENST00000587492.1_Silent_p.G140G|ZSCAN5A_ENST00000391713.1_Silent_p.G286G Q9BUG6 ZSA5A_HUMAN zinc finger and SCAN domain containing 5A 286 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(12)|ovary(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 37 CTCCTCTGTTCCCGCTGTGAG 0.537000 58 158 0 0 1 0 0 MED23 9439 broad.mit.edu 37 6 131924302 131924302 + Missense_Mutation SNP A A C TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:131924302A>C ENST00000403834.3 - 16 1990 c.1817T>G c.(1816-1818)aTc>aGc p.I606S MED23_ENST00000540546.1_Missense_Mutation_p.I606S|MED23_ENST00000368060.3_Missense_Mutation_p.I600S|MED23_ENST00000368053.4_Missense_Mutation_p.I606S|MED23_ENST00000354577.4_Missense_Mutation_p.I606S|MED23_ENST00000545957.1_Missense_Mutation_p.I241S|MED23_ENST00000539158.1_Missense_Mutation_p.D470E|MED23_ENST00000368068.3_Missense_Mutation_p.I600S|MED23_ENST00000368058.1_Missense_Mutation_p.I606S Q9ULK4 MED23_HUMAN mediator complex subunit 23 600 regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter transcription factor complex protein binding|transcription coactivator activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(12)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 44 Breast(56;0.0753) GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608) TGTGTGTAAGATCCCCCATGC 0.403000 43 66 0 0 1 0 0 CRKL 1399 broad.mit.edu 37 22 21304080 21304080 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr22:21304080C>T ENST00000354336.3 + 3 1368 c.859C>T c.(859-861)Ccc>Tcc p.P287S NM_005207.3 NP_005198.1 P46109 CRKL_HUMAN v-crk avian sarcoma virus CT10 oncogene homolog-like 287 SH3 2. JNK cascade|Ras protein signal transduction cytosol protein tyrosine kinase activity|SH3/SH2 adaptor activity|signal transducer activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7) 14 all_cancers(11;1.16e-25)|all_epithelial(7;3.37e-24)|Lung NSC(8;7.25e-16)|all_lung(8;1.37e-14)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.176) AGGGCTTTTCCCCTTTACGCA 0.478000 143 270 0 0 1 0 0 SLC9A2 6549 broad.mit.edu 37 2 103322346 103322346 + Silent SNP T T C TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:103322346T>C ENST00000233969.2 + 11 2161 c.2019T>C c.(2017-2019)aaT>aaC p.N673N NM_003048.3 NP_003039.2 Q9UBY0 SL9A2_HUMAN solute carrier family 9, subfamily A (NHE2, cation proton antiporter 2), member 2 673 integral to membrane|plasma membrane sodium:hydrogen antiporter activity breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 42 TACCTAAAAATACGAAGCTTC 0.303000 5 63 0 0 1 0 0 TPTE 7179 broad.mit.edu 37 21 10934068 10934068 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr21:10934068C>T ENST00000298232.7 - 15 1222 c.855G>A c.(853-855)atG>atA p.M285I TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000342420.5_Missense_Mutation_p.M265I|TPTE_ENST00000361285.4_Missense_Mutation_p.M303I NM_199259.2 NP_954868.1 P56180 TPTE_HUMAN transmembrane phosphatase with tensin homology 303 Phosphatase tensin-type. signal transduction integral to membrane ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1) 130 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) GATCATCAATCATGATTCTAA 0.313000 51 253 0 0 1 0 0 RBM47 54502 broad.mit.edu 37 4 40440209 40440209 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:40440209C>T ENST00000319592.4 - 4 1411 c.702G>A c.(700-702)gaG>gaA p.E234E RBM47_ENST00000515809.1_Intron|RBM47_ENST00000381795.6_Silent_p.E234E|RBM47_ENST00000514014.1_Silent_p.E196E|RBM47_ENST00000295971.7_Silent_p.E234E|RBM47_ENST00000381793.2_Silent_p.E234E A0AV96 RBM47_HUMAN RNA binding motif protein 47 234 nucleus nucleotide binding|RNA binding breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1) 29 CCACGTCGATCTCAGGTTCGG 0.637000 60 102 0 0 1 0 0 SLC12A5 57468 broad.mit.edu 37 20 44670060 44670060 + Missense_Mutation SNP G G A rs144471748 byFrequency TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr20:44670060G>A ENST00000454036.1 + 8 1092 c.1016G>A c.(1015-1017)cGg>cAg p.R339Q SLC12A5_ENST00000539566.1_Intron|SLC12A5_ENST00000243964.3_Missense_Mutation_p.R316Q NM_001134771.1 NP_001128243.1 Q9H2X9 S12A5_HUMAN solute carrier family 12 (potassium/chloride transporter), member 5 339 potassium ion transport|sodium ion transport integral to membrane potassium:chloride symporter activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1) 80 Myeloproliferative disorder(115;0.0122) Bumetanide(DB00887)|Potassium Chloride(DB00761) GTGACCACACGGCTATGGGGC 0.562000 40 81 0 0 1 0 0 LPAR1 1902 broad.mit.edu 37 9 113703797 113703797 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:113703797G>A ENST00000374431.3 - 4 1080 c.697C>T c.(697-699)Cgc>Tgc p.R233C LPAR1_ENST00000358883.4_Missense_Mutation_p.R233C|LPAR1_ENST00000374430.2_Missense_Mutation_p.R233C|LPAR1_ENST00000538760.1_Missense_Mutation_p.R234C|LPAR1_ENST00000541779.1_Missense_Mutation_p.R234C NM_057159.2 NP_476500.1 Q92633 LPAR1_HUMAN lysophosphatidic acid receptor 1 233 positive regulation of I-kappaB kinase/NF-kappaB cascade cell surface|integral to plasma membrane breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(6)|skin(1) 21 GTCCTCTGGCGAACATAGCCA 0.478000 35 83 0 0 1 0 0 CCDC88B 283234 broad.mit.edu 37 11 64120906 64120906 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:64120906G>A ENST00000356786.5 + 22 3815 c.3771G>A c.(3769-3771)agG>agA p.R1257R CCDC88B_ENST00000463837.1_3'UTR|CCDC88B_ENST00000359902.2_Silent_p.R409R|CCDC88B_ENST00000301897.4_5'UTR NM_032251.5 NP_115627.6 A6NC98 CC88B_HUMAN coiled-coil domain containing 88B 1257 microtubule cytoskeleton organization cytoplasm microtubule binding endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 GGGAGAACAGGGAGCTCCTGG 0.672000 25 33 0 0 1 0 0 IFIT5 24138 broad.mit.edu 37 10 91176983 91176983 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:91176983G>A ENST00000371795.4 + 2 240 c.27G>A c.(25-27)ttG>ttA p.L9L IFIT5_ENST00000416601.1_Silent_p.L9L NM_012420.2 NP_036552.1 Q13325 IFIT5_HUMAN interferon-induced protein with tetratricopeptide repeats 5 9 binding endometrium(1)|large_intestine(4)|lung(4) 9 AGGACACCTTGAAGGCCATTC 0.308000 34 77 0 0 1 0 0 MUC17 140453 broad.mit.edu 37 7 100686896 100686896 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:100686896C>T ENST00000306151.4 + 3 12263 c.12199C>T c.(12199-12201)Cct>Tct p.P4067S NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 4067 extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) ACCTACATTTCCTCCTGCTCA 0.547000 62 198 0 0 1 0 0 OR8D2 283160 broad.mit.edu 37 11 124189208 124189208 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:124189208C>T ENST00000357438.2 - 1 976 c.886G>A c.(886-888)Gat>Aat p.D296N NM_001002918.1 NP_001002918.1 Q9GZM6 OR8D2_HUMAN olfactory receptor, family 8, subfamily D, member 2 296 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 25 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0525) TTTTTCACATCCTTGTTCCTC 0.413000 42 61 0 0 1 0 0 SPOCK3 50859 broad.mit.edu 37 4 167656170 167656170 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:167656170C>T ENST00000357154.3 - 12 1350 c.1213G>A c.(1213-1215)Gaa>Aaa p.E405K SPOCK3_ENST00000535728.1_Missense_Mutation_p.E273K|SPOCK3_ENST00000512681.1_Missense_Mutation_p.E307K|SPOCK3_ENST00000511269.1_Missense_Mutation_p.E402K|SPOCK3_ENST00000504953.1_Missense_Mutation_p.E402K|SPOCK3_ENST00000507137.1_5'UTR|SPOCK3_ENST00000502330.1_Missense_Mutation_p.E405K|SPOCK3_ENST00000510741.1_Missense_Mutation_p.E362K|SPOCK3_ENST00000541637.1_Missense_Mutation_p.E307K|SPOCK3_ENST00000534949.1_Missense_Mutation_p.E309K|SPOCK3_ENST00000506886.1_Missense_Mutation_p.E405K|SPOCK3_ENST00000511531.1_Missense_Mutation_p.E405K|SPOCK3_ENST00000357545.4_Missense_Mutation_p.E402K|SPOCK3_ENST00000421836.2_Missense_Mutation_p.E354K|SPOCK3_ENST00000541354.1_Missense_Mutation_p.E285K NM_016950.2 NP_058646.2 Q9BQ16 TICN3_HUMAN sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 3 405 Asp-rich. signal transduction proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase inhibitor activity p.E402*(1) NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 38 all_hematologic(180;0.221) Prostate(90;0.0181)|Renal(120;0.0184)|Melanoma(52;0.0198) GBM - Glioblastoma multiforme(119;0.02) atatcgtcttcatcatcctca 0.353000 14 41 0 0 1 0 0 NINL 22981 broad.mit.edu 37 20 25477346 25477346 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr20:25477346C>T ENST00000278886.6 - 10 1336 c.1263G>A c.(1261-1263)atG>atA p.M421I NINL_ENST00000422516.1_Missense_Mutation_p.M421I NM_025176.4 NP_079452.3 Q9Y2I6 NINL_HUMAN ninein-like 421 G2/M transition of mitotic cell cycle cytosol|microtubule|microtubule organizing center calcium ion binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 57 GGCAGTCGTCCATCTCTTTCA 0.602000 8 111 0 0 1 0 0 CC2D1A 54862 broad.mit.edu 37 19 14029358 14029358 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:14029358C>T ENST00000318003.7 + 8 1156 c.915C>T c.(913-915)ccC>ccT p.P305P CC2D1A_ENST00000589606.1_Silent_p.P305P NM_017721.4 NP_060191.3 Q6P1N0 C2D1A_HUMAN coiled-coil and C2 domain containing 1A 305 Pro-rich. positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus|plasma membrane DNA binding|signal transducer activity NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(2)|skin(2) 27 OV - Ovarian serous cystadenocarcinoma(19;3.49e-23) GGGGTGAGCCCGTGGACCTCT 0.597000 28 45 0 0 1 0 0 DNAH2 146754 broad.mit.edu 37 17 7697628 7697628 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:7697628C>T ENST00000572933.1 + 49 9086 c.7626C>T c.(7624-7626)tcC>tcT p.S2542S DNAH2_ENST00000389173.2_Silent_p.S2542S Q9P225 DYH2_HUMAN dynein, axonemal, heavy chain 2 2542 AAA 3 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1) 189 all_cancers(10;4.66e-07)|Prostate(122;0.081) CTGTCATCTCCCCAAGGCTAC 0.602000 31 73 0 0 1 0 0 ADAMTS20 80070 broad.mit.edu 37 12 43846406 43846406 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:43846406C>T ENST00000389420.3 - 13 1852 c.1853G>A c.(1852-1854)cGa>cAa p.R618Q ADAMTS20_ENST00000553158.1_Missense_Mutation_p.R618Q NM_025003.3 NP_079279.3 P59510 ATS20_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 20 618 Cys-rich. proteinaceous extracellular matrix zinc ion binding breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1) 95 all_cancers(12;2.6e-05)|Lung SC(27;0.184) Lung NSC(34;0.0569)|all_lung(34;0.129) GBM - Glioblastoma multiforme(48;0.0473) CTGCTTCTCTCGAAAGTCTTG 0.423000 15 28 0 0 1 0 0 SIGLEC1 6614 broad.mit.edu 37 20 3678746 3678746 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr20:3678746C>T ENST00000344754.4 - 8 1820 c.1821G>A c.(1819-1821)ctG>ctA p.L607L SIGLEC1_ENST00000202578.4_Silent_p.L607L NM_023068.3 NP_075556.1 Q9BZZ2 SN_HUMAN sialic acid binding Ig-like lectin 1, sialoadhesin 607 Ig-like C2-type 6. cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response extracellular region|integral to membrane|plasma membrane sugar binding NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1) 70 CATCAAGGTCCAGCCTGGTGG 0.667000 10 24 0 0 1 0 0 RNF217 154214 broad.mit.edu 37 6 125283905 125283905 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:125283905G>A ENST00000521654.2 + 1 215 c.215G>A c.(214-216)aGc>aAc p.S72N RNF217_ENST00000560949.1_5'UTR|RP11-510H23.1_ENST00000439075.1_RNA Q8TC41 RN217_HUMAN ring finger protein 217 0 protein ubiquitination involved in ubiquitin-dependent protein catabolic process integral to membrane ubiquitin-protein ligase activity|zinc ion binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(1) 11 LUSC - Lung squamous cell carcinoma(4;0.0263)|Lung(4;0.0828) GBM - Glioblastoma multiforme(226;0.0162) CCCGCGAGGAGCCTGGGGCCC 0.761000 9 16 0 0 1 0 0 ARPP19 10776 broad.mit.edu 37 15 52844159 52844159 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr15:52844159G>A ENST00000566423.1 - 4 444 c.311C>T c.(310-312)tCc>tTc p.S104F ARPP19_ENST00000569723.1_Missense_Mutation_p.S63F|ARPP19_ENST00000249822.4_Missense_Mutation_p.S104F|ARPP19_ENST00000567669.1_Missense_Mutation_p.S104F|ARPP19_ENST00000564163.1_Missense_Mutation_p.S123F|ARPP19_ENST00000568196.1_Missense_Mutation_p.S88F|ARPP19_ENST00000563566.1_Missense_Mutation_p.S88F|ARPP19_ENST00000563277.1_Missense_Mutation_p.S88F|ARPP19_ENST00000565288.1_5'UTR|ARPP19_ENST00000561971.1_Missense_Mutation_p.S123F|ARPP19_ENST00000561650.1_Missense_Mutation_p.S88F|ARPP19_ENST00000569281.2_Missense_Mutation_p.S104F P56211 ARP19_HUMAN cAMP-regulated phosphoprotein, 19kDa 104 cell division|G2/M transition of mitotic cell cycle|mitosis|positive regulation of gluconeogenesis|positive regulation of glucose import cytoplasm potassium channel regulator activity|protein phosphatase 2A binding|protein phosphatase inhibitor activity|protein phosphatase type 2A regulator activity|receptor binding endometrium(1)|kidney(1)|large_intestine(1)|lung(1) 4 AGCAACAAGGGACGGCTTCCG 0.448000 59 105 0 0 1 0 0 STATH 6779 broad.mit.edu 37 4 70865385 70865385 + Splice_Site SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:70865385G>A ENST00000246895.4 + 3 164 c.51_splice c.e3-1 p.G18_splice STATH_ENST00000381060.2_Splice_Site_p.G18_splice NM_003154.2 NP_003145.1 P02808 STAT_HUMAN statherin 18 biomineral tissue development|negative regulation of bone mineralization|ossification|saliva secretion extracellular region extracellular matrix constituent, lubricant activity|hydroxyapatite binding|protein binding|structural constituent of tooth enamel lung(2)|skin(1) 3 TTTTCTAAGGGAGCTGATTCA 0.323000 13 35 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9067097 9067097 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:9067097C>T ENST00000397910.4 - 3 20552 c.20349G>A c.(20347-20349)aaG>aaA p.K6783K NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 6785 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 TCTCAGGGTCCTTGTTCATGA 0.483000 62 172 0 0 1 0 0 PLXNA4 91584 broad.mit.edu 37 7 131872333 131872333 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:131872333C>T ENST00000359827.3 - 15 3852 c.2890G>A c.(2890-2892)Ggg>Agg p.G964R PLXNA4_ENST00000321063.4_Missense_Mutation_p.G964R Q9HCM2 PLXA4_HUMAN plexin A4 964 IPT/TIG 2. integral to membrane|intracellular|plasma membrane NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1) 45 GACATGGGCCCCCGGCTGGGC 0.587000 12 542 0 0 1 0 0 RP11-50E11.3 0 broad.mit.edu 37 10 52389895 52389895 + RNA SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:52389895C>T ENST00000443374.1 + 0 588 TATGCTGGGTCGTTTTCCTGA 0.403000 18 29 0 0 1 0 0 TRPC6 7225 broad.mit.edu 37 11 101324403 101324403 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:101324403C>T ENST00000344327.3 - 12 3046 c.2622G>A c.(2620-2622)aaG>aaA p.K874K TRPC6_ENST00000532133.1_Silent_p.K796K|TRPC6_ENST00000348423.4_Silent_p.K758K|TRPC6_ENST00000360497.4_Silent_p.K819K NM_004621.5 NP_004612.2 Q9Y210 TRPC6_HUMAN transient receptor potential cation channel, subfamily C, member 6 874 axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity integral to membrane|plasma membrane protein binding autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 55 Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162) BRCA - Breast invasive adenocarcinoma(274;0.0442) CATCACTCTCCTTATCTATCT 0.453000 5 90 0 0 1 0 0 HIVEP1 3096 broad.mit.edu 37 6 12164001 12164001 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:12164001C>T ENST00000379388.2 + 9 7796 c.7464C>T c.(7462-7464)ctC>ctT p.L2488L HIVEP1_ENST00000541134.1_Silent_p.L353L NM_002114.2 NP_002105.2 P15822 ZEP1_HUMAN human immunodeficiency virus type I enhancer binding protein 1 2488 transcription, DNA-dependent cytoplasm|nucleus DNA binding|protein binding|zinc ion binding NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 90 Breast(50;0.0639)|Ovarian(93;0.0816) all_hematologic(90;0.117) TGCAGTCACTCCCCTCGTTAA 0.522000 6 182 0 0 1 0 0 ACVR1B 91 broad.mit.edu 37 12 52345562 52345562 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:52345562C>T ENST00000257963.4 + 1 112 c.35C>T c.(34-36)cCc>cTc p.P12L ACVR1B_ENST00000426655.2_Missense_Mutation_p.P12L|ACVR1B_ENST00000415850.2_Missense_Mutation_p.P12L|ACVR1B_ENST00000541224.1_Missense_Mutation_p.P12L NM_004302.4|NM_020328.3 NP_004293.1|NP_064733.3 P36896 ACV1B_HUMAN activin A receptor, type IB 12 G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|peptidyl-threonine phosphorylation|positive regulation of activin receptor signaling pathway|positive regulation of erythrocyte differentiation|protein autophosphorylation|transmembrane receptor protein serine/threonine kinase signaling pathway cell surface activin receptor activity, type I|ATP binding|metal ion binding|SMAD binding|transforming growth factor beta receptor activity|ubiquitin protein ligase binding breast(5)|endometrium(4)|kidney(5)|large_intestine(12)|lung(10)|ovary(1)|pancreas(6)|prostate(1) 44 BRCA - Breast invasive adenocarcinoma(357;0.104) Adenosine triphosphate(DB00171) TCCTTCTTCCCCCTTGTTGTC 0.796000 4 17 0 0 1 0 0 BMP1 649 broad.mit.edu 37 8 22064883 22064883 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:22064883G>A ENST00000306385.5 + 18 3099 c.2429G>A c.(2428-2430)gGg>gAg p.G810E BMP1_ENST00000354870.5_3'UTR NM_006129.4 NP_006120.1 P13497 BMP1_HUMAN bone morphogenetic protein 1 810 CUB 4. cartilage condensation|cell differentiation|lipid metabolic process|lipoprotein metabolic process|ossification|positive regulation of cartilage development|proteolysis extracellular space calcium ion binding|cytokine activity|growth factor activity|metalloendopeptidase activity|zinc ion binding breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3) 30 Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11) GTGTTCGACGGGCGAGACGCC 0.607000 11 163 0 0 1 0 0 DERL1 79139 broad.mit.edu 37 8 124034949 124034949 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:124034949G>A ENST00000259512.4 - 5 728 c.428C>T c.(427-429)tCa>tTa p.S143L DERL1_ENST00000523036.1_Missense_Mutation_p.S43L|DERL1_ENST00000519018.1_Missense_Mutation_p.S43L|RP11-557C18.3_ENST00000521258.1_RNA|DERL1_ENST00000419562.2_Intron|DERL1_ENST00000405944.3_Missense_Mutation_p.S143L NM_001134671.1|NM_024295.4 NP_001128143.1|NP_077271.1 Q9BUN8 DERL1_HUMAN derlin 1 143 endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|intracellular transport of viral proteins in host cell|retrograde protein transport, ER to cytosol integral to endoplasmic reticulum membrane MHC class I protein binding|receptor activity cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3) 8 Lung NSC(37;1.06e-09)|Ovarian(258;0.0205) STAD - Stomach adenocarcinoma(47;0.00527) AAACCAAAATGATACAATCAT 0.408000 OREG0018957 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 87 155 0 0 1 0 0 TNC 3371 broad.mit.edu 37 9 117825290 117825290 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:117825290G>A ENST00000350763.4 - 13 4350 c.3939C>T c.(3937-3939)atC>atT p.I1313I TNC_ENST00000542877.1_Intron|TNC_ENST00000537320.1_Intron|TNC_ENST00000341037.4_Intron|TNC_ENST00000345230.3_Intron|TNC_ENST00000423613.2_Silent_p.I1313I|TNC_ENST00000535648.1_Intron|TNC_ENST00000340094.3_Intron|TNC_ENST00000346706.3_Intron NM_002160.3 NP_002151.2 P24821 TENA_HUMAN tenascin C 1313 Fibronectin type-III 8. cell adhesion|response to wounding|signal transduction extracellular space receptor binding|syndecan binding NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 120 TGAGGCCTGGGATTTCCATGG 0.572000 19 30 0 0 1 0 0 DLG5 9231 broad.mit.edu 37 10 79603321 79603321 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:79603321G>A ENST00000372391.2 - 6 1013 c.1008C>T c.(1006-1008)agC>agT p.S336S DLG5_ENST00000372388.2_Silent_p.S336S NM_004747.3 NP_004738.3 Q8TDM6 DLG5_HUMAN discs, large homolog 5 (Drosophila) 336 cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis cell junction|cytoplasm beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 60 all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146) Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446) GCTCCAGGCGGCTCAGGTCTG 0.592000 10 244 0 0 1 0 0 EZH2 2146 broad.mit.edu 37 7 148524329 148524329 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:148524329G>A ENST00000320356.2 - 7 776 c.655C>T c.(655-657)Cct>Tct p.P219S EZH2_ENST00000536783.1_Missense_Mutation_p.P110S|EZH2_ENST00000541220.1_Missense_Mutation_p.P210S|EZH2_ENST00000478654.1_Missense_Mutation_p.P210S|EZH2_ENST00000483967.1_Missense_Mutation_p.P210S|EZH2_ENST00000476773.1_Missense_Mutation_p.P210S|EZH2_ENST00000460911.1_Missense_Mutation_p.P219S|EZH2_ENST00000350995.2_Missense_Mutation_p.P180S NM_001203247.1|NM_001203248.1|NM_004456.4 NP_001190176.1|NP_001190177.1|NP_004447.2 Q15910 EZH2_HUMAN enhancer of zeste homolog 2 (Drosophila) 219 Interaction with DNMT1, DNMT3A and DNMT3B. negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent ESC/E(Z) complex DNA binding|histone-lysine N-methyltransferase activity|protein binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(313)|kidney(3)|large_intestine(8)|liver(1)|lung(23)|parathyroid(2)|skin(3)|upper_aerodigestive_tract(3) 359 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00239) TTATCAGAAGGAAATTTCCGA 0.353000 Mis DLBCL 6 360 0 0 1 0 0 PGBD1 84547 broad.mit.edu 37 6 28269871 28269871 + Missense_Mutation SNP C C T rs147237521 byFrequency TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:28269871C>T ENST00000405948.2 + 7 2660 c.2240C>T c.(2239-2241)tCg>tTg p.S747L PGBD1_ENST00000259883.3_Missense_Mutation_p.S747L NM_001184743.1|NM_032507.3 NP_001171672.1|NP_115896.1 Q96JS3 PGBD1_HUMAN piggyBac transposable element derived 1 747 viral reproduction membrane|nucleus scavenger receptor activity|sequence-specific DNA binding transcription factor activity endometrium(2)|kidney(2)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2) 41 CAAATTATTTCGAAATACAGG 0.388000 25 63 0 0 1 0 0 LILRB1 10859 broad.mit.edu 37 19 55146556 55146556 + Splice_Site SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:55146556C>T ENST00000396331.1 + 12 1842 c.1483_splice c.e12-1 p.T495_splice LILRB1_ENST00000448689.1_Intron|LILRB1_ENST00000396332.4_Splice_Site_p.T495_splice|LILRB1_ENST00000324602.7_Splice_Site_p.T496_splice|LILRB1_ENST00000396315.1_Splice_Site_p.T496_splice|LILRB1_ENST00000396317.1_Splice_Site_p.T479_splice|LILRB1_ENST00000418536.2_Splice_Site_p.T479_splice|LILRB1_ENST00000462628.1_3'UTR|LILRB1_ENST00000396321.2_Splice_Site_p.T495_splice|LILRB1_ENST00000396327.3_Splice_Site_p.T496_splice|LILRB1_ENST00000427581.2_Splice_Site_p.T545_splice|LILRB1_ENST00000434867.2_Splice_Site_p.T495_splice NM_006669.3 NP_006660.3 Q8NHL6 LIRB1_HUMAN leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1 495 regulation of immune response|response to virus integral to membrane|plasma membrane protein phosphatase 1 binding|receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 74 GBM - Glioblastoma multiforme(193;0.0188) TTCCCCCAGCCCAGAGAAAGG 0.582000 HNSCC(37;0.09) 21 27 0 0 1 0 0 PGM2 55276 broad.mit.edu 37 4 37841722 37841722 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:37841722C>T ENST00000381967.4 + 6 660 c.560C>T c.(559-561)cCt>cTt p.P187L PGM2_ENST00000544359.1_Missense_Mutation_p.P48L|PGM2_ENST00000537241.1_Missense_Mutation_p.P27L NM_018290.3 NP_060760.2 Q96G03 PGM2_HUMAN phosphoglucomutase 2 187 glucose 1-phosphate metabolic process|glycogen biosynthetic process|glycogen catabolic process cytosol magnesium ion binding|phosphoglucomutase activity|phosphopentomutase activity breast(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|urinary_tract(1) 19 ATCATTTCTCCTCACGATAAA 0.413000 42 100 0 0 1 0 0 OR13C3 138803 broad.mit.edu 37 9 107298801 107298801 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:107298801G>A ENST00000374781.2 - 1 336 c.294C>T c.(292-294)ttC>ttT p.F98F NM_001001961.1 NP_001001961.1 Q8NGS6 O13C3_HUMAN olfactory receptor, family 13, subfamily C, member 3 98 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(1)|skin(1) 19 AGATATCCAGGAAAGAGAGGT 0.413000 53 107 0 0 1 0 0 ACRC 93953 broad.mit.edu 37 X 70825531 70825531 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chrX:70825531C>T ENST00000373695.1 + 8 1955 c.1418C>T c.(1417-1419)cCt>cTt p.P473L ACRC_ENST00000373696.3_Missense_Mutation_p.P473L Q96QF7 ACRC_HUMAN acidic repeat containing 473 Arg/Lys/Pro-rich. nucleus autonomic_ganglia(1)|breast(1)|endometrium(15)|kidney(4)|large_intestine(4)|lung(20)|ovary(5)|prostate(1)|skin(2)|stomach(1) 54 Renal(35;0.156) AAGCGTGGGCCTTCAAAGAAG 0.423000 12 13 0 0 1 0 0 IGHV4-59 28392 broad.mit.edu 37 14 107083676 107083676 + RNA SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr14:107083676G>A ENST00000455737.1 - 0 49 AAGAACCACAGATGTTTCATG 0.507000 18 99 0 0 1 0 0 EGFLAM 133584 broad.mit.edu 37 5 38427202 38427202 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:38427202C>T ENST00000322350.5 + 14 2248 c.1902C>T c.(1900-1902)ttC>ttT p.F634F EGFLAM_ENST00000336740.6_Silent_p.F400F|EGFLAM_ENST00000354891.3_Silent_p.F634F|EGFLAM-AS1_ENST00000508986.1_RNA|EGFLAM_ENST00000397202.2_5'UTR NM_152403.3 NP_689616.2 Q63HQ2 EGFLA_HUMAN EGF-like, fibronectin type III and laminin G domains 634 Laminin G-like 2. cell junction|proteinaceous extracellular matrix|synapse NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 85 all_lung(31;0.000385) ACCTTTCCTTCATGGAATTTG 0.493000 64 254 0 0 1 0 0 YPEL2 388403 broad.mit.edu 37 17 57430818 57430818 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:57430818C>T ENST00000312655.4 + 2 366 c.48C>T c.(46-48)tcC>tcT p.S16S YPEL2_ENST00000581865.1_Intron|YPEL2_ENST00000585166.1_Silent_p.S16S NM_001005404.3 NP_001005404.1 Q96QA6 YPEL2_HUMAN yippee-like 2 (Drosophila) 16 nucleolus endometrium(1)|large_intestine(1)|lung(3) 5 all_neural(34;0.0837)|Medulloblastoma(34;0.0922) ATCTGCCCTCCTGCCACCGGA 0.537000 32 180 0 0 1 0 0 LPAR2 9170 broad.mit.edu 37 19 19735203 19735203 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:19735203G>A ENST00000542587.1 - 6 1820 c.918C>T c.(916-918)ttC>ttT p.F306F LPAR2_ENST00000586703.1_Silent_p.F306F|LPAR2_ENST00000407877.3_Silent_p.F306F Q9HBW0 LPAR2_HUMAN lysophosphatidic acid receptor 2 306 activation of phospholipase C activity|elevation of cytosolic calcium ion concentration cell surface|integral to plasma membrane LIM domain binding|lipid binding breast(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1) 10 GAAGGCGGCGGAAGGTGCGGC 0.602000 45 78 0 0 1 0 0 DDX60L 91351 broad.mit.edu 37 4 169325171 169325171 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:169325171C>T ENST00000511577.1 - 25 3547 c.3300G>A c.(3298-3300)aaG>aaA p.K1100K DDX60L_ENST00000505890.1_Silent_p.K1100K|DDX60L_ENST00000260184.7_Silent_p.K1100K Q5H9U9 DDX6L_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like 1100 ATP binding|ATP-dependent helicase activity|RNA binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1) 43 Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132) GBM - Glioblastoma multiforme(119;0.175) TTTGTCTTAACTTTTCAACAA 0.299000 3 10 0 0 1 0 0 PSEN2 5664 broad.mit.edu 37 1 227081821 227081821 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:227081821C>T ENST00000366782.1 + 12 1785 c.1285C>T c.(1285-1287)Ctc>Ttc p.L429F PSEN2_ENST00000366783.3_Missense_Mutation_p.L396F|PSEN2_ENST00000340188.4_Missense_Mutation_p.L363F|PSEN2_ENST00000472139.2_Missense_Mutation_p.L252F|PSEN2_ENST00000391872.2_Missense_Mutation_p.L429F|PSEN2_ENST00000471728.1_3'UTR|PSEN2_ENST00000422240.2_Missense_Mutation_p.L395F P49810 PSN2_HUMAN presenilin 2 (Alzheimer disease 4) 396 amyloid precursor protein catabolic process|anti-apoptosis|apoptosis|beta-amyloid metabolic process|calcium ion transport|induction of apoptosis by extracellular signals|intracellular signal transduction|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|positive regulation of catalytic activity apical plasma membrane|axon|cell cortex|cell surface|centrosome|ciliary rootlet|dendritic shaft|endoplasmic reticulum membrane|Golgi membrane|growth cone|integral to plasma membrane|kinetochore|lysosomal membrane|membrane raft|mitochondrial inner membrane|neuromuscular junction|neuronal cell body|nuclear inner membrane|perinuclear region of cytoplasm|Z disc aspartic-type endopeptidase activity|protein binding cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|urinary_tract(1) 20 Prostate(94;0.0771) CGTGGCCATCCTCATTGTGAG 0.637000 30 59 0 0 1 0 0 SERPING1 710 broad.mit.edu 37 11 57379256 57379256 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:57379256C>T ENST00000403558.1 + 6 1591 c.1225C>T c.(1225-1227)Cgt>Tgt p.R409C SERPING1_ENST00000378323.4_Missense_Mutation_p.R371C|SERPING1_ENST00000378324.2_Missense_Mutation_p.R314C|SERPING1_ENST00000278407.4_Missense_Mutation_p.R366C|SERPING1_ENST00000340687.6_Intron NM_001032295.1 NP_001027466.1 P05155 IC1_HUMAN serpin peptidase inhibitor, clade G (C1 inhibitor), member 1 366 blood circulation|blood coagulation, intrinsic pathway|complement activation, classical pathway|innate immune response|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation extracellular space|platelet alpha granule lumen protein binding|serine-type endopeptidase inhibitor activity central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|pancreas(2)|prostate(1)|urinary_tract(1) 27 CCTGAAACATCGTCTTGAAGA 0.493000 83 172 0 0 1 0 0 SLC39A12 221074 broad.mit.edu 37 10 18250641 18250641 + Silent SNP A A G TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:18250641A>G ENST00000377369.2 + 3 666 c.393A>G c.(391-393)tcA>tcG p.S131S SLC39A12_ENST00000377371.3_Silent_p.S131S|SLC39A12_ENST00000377374.4_Silent_p.S131S|SLC39A12_ENST00000539911.1_5'UTR NM_001145195.1 NP_001138667.1 Q504Y0 S39AC_HUMAN solute carrier family 39 (zinc transporter), member 12 131 zinc ion transport integral to membrane metal ion transmembrane transporter activity NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 60 TCTGTTCTTCAAAGCTCAACA 0.393000 48 84 0 0 1 0 0 ADAMTS9 56999 broad.mit.edu 37 3 64644315 64644315 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:64644315C>T ENST00000498707.1 - 4 1174 c.832G>A c.(832-834)Gaa>Aaa p.E278K ADAMTS9_ENST00000459780.1_Missense_Mutation_p.E278K|ADAMTS9_ENST00000295903.4_Missense_Mutation_p.E278K NM_182920.1 NP_891550.1 Q9P2N4 ATS9_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 9 278 glycoprotein catabolic process|multicellular organismal development|proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 100 Lung NSC(201;0.00682) BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221) GTCCTCTTTTCTCTTGTGTTG 0.448000 116 188 0 0 1 0 0 TMEM156 80008 broad.mit.edu 37 4 38995438 38995438 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:38995438G>A ENST00000381938.3 - 3 646 c.539C>T c.(538-540)tCg>tTg p.S180L NM_024943.1 NP_079219.1 Q8N614 TM156_HUMAN transmembrane protein 156 180 integral to membrane endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|stomach(1) 10 GTAGTTTATCGATTTCTCCTT 0.373000 49 111 0 0 1 0 0 DLGAP2 9228 broad.mit.edu 37 8 1626733 1626733 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:1626733G>A ENST00000421627.2 + 9 2536 c.2402G>A c.(2401-2403)aGg>aAg p.R801K DLGAP2_ENST00000524065.1_3'UTR NM_004745.3 NP_004736.2 Q9P1A6 DLGP2_HUMAN discs, large (Drosophila) homolog-associated protein 2 880 neuron-neuron synaptic transmission cell junction|neurofilament|postsynaptic density|postsynaptic membrane protein binding breast(1)|endometrium(6)|lung(31)|prostate(3) 41 Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846) BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171) GAGACAAAGAGGATGGAAGGC 0.567000 3 18 0 0 1 0 0 OR10K2 391107 broad.mit.edu 37 1 158390027 158390027 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:158390027G>A ENST00000314902.2 - 1 629 c.630C>T c.(628-630)ccC>ccT p.P210P NM_001004476.1 NP_001004476.1 Q6IF99 O10K2_HUMAN olfactory receptor, family 10, subfamily K, member 2 210 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(19)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 all_hematologic(112;0.0378) TCAACAATAAGGGGATAGCCA 0.453000 34 121 0 0 1 0 0 DIP2C 22982 broad.mit.edu 37 10 465059 465059 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:465059C>T ENST00000280886.6 - 6 772 c.685G>A c.(685-687)Ggg>Agg p.G229R DIP2C_ENST00000381496.3_Missense_Mutation_p.G122R NM_014974.2 NP_055789.1 Q9Y2E4 DIP2C_HUMAN DIP2 disco-interacting protein 2 homolog C (Drosophila) 229 nucleus catalytic activity|transcription factor binding breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4) 81 all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235) OV - Ovarian serous cystadenocarcinoma(33;0.136) Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106) GTCCGGGACCCCGTGGAACCC 0.537000 11 112 0 0 1 0 0 SPATA31C1 441452 broad.mit.edu 37 9 90535452 90535452 + RNA SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:90535452C>T ENST00000602681.1 + 0 1356 GCCCCTCACCCGAGCCACCTG 0.632000 29 381 0 0 1 0 0 CYP26C1 340665 broad.mit.edu 37 10 94828076 94828076 + Splice_Site SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:94828076G>A ENST00000285949.5 + 6 1191 c.e6-1 NM_183374.2 NP_899230.2 Q6V0L0 CP26C_HUMAN cytochrome P450, family 26, subfamily C, polypeptide 1 anterior/posterior pattern formation|central nervous system development|negative regulation of retinoic acid receptor signaling pathway|neural crest cell development|organelle fusion|retinoic acid catabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity|retinoic acid binding central_nervous_system(1)|lung(3)|ovary(1) 5 Colorectal(252;0.122) CCTCTCTGCAGGGCTACCAGA 0.632000 6 134 0 0 1 0 0 MACF1 23499 broad.mit.edu 37 1 39784188 39784188 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:39784188C>T ENST00000564288.1 + 30 4623 c.3846C>T c.(3844-3846)ctC>ctT p.L1282L MACF1_ENST00000476350.1_3'UTR|MACF1_ENST00000539005.1_Silent_p.L1287L|MACF1_ENST00000567887.1_Silent_p.L1319L|MACF1_ENST00000545844.1_Silent_p.L1287L|MACF1_ENST00000361689.2_Silent_p.L1287L|MACF1_ENST00000372915.3_Silent_p.L1287L|MACF1_ENST00000317713.7_Silent_p.L1287L Q9UPN3 MACF1_HUMAN microtubule-actin crosslinking factor 1 1287 cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing Golgi apparatus|microtubule|ruffle membrane actin filament binding|ATPase activity|calcium ion binding|microtubule binding breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10) 203 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) ATGGAACTCTCATCAAGTGGA 0.512000 25 46 0 0 1 0 0 MYH2 4620 broad.mit.edu 37 17 10432198 10432198 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:10432198C>T ENST00000245503.5 - 27 3937 c.3553G>A c.(3553-3555)Gag>Aag p.E1185K MYH2_ENST00000397183.2_Missense_Mutation_p.E1185K|CTC-297N7.7_ENST00000581304.1_RNA|MYH2_ENST00000532183.1_Intron|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA NM_017534.5 NP_060004.3 Q9UKX2 MYH2_HUMAN myosin, heavy chain 2, skeletal muscle, adult 1185 muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4) 176 GTGGCCTCCTCCAGGTCCCTG 0.592000 106 164 0 0 1 0 0 SDC1 6382 broad.mit.edu 37 2 20402599 20402599 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:20402599G>A ENST00000381150.1 - 6 1251 c.861C>T c.(859-861)tcC>tcT p.S287S SDC1_ENST00000403076.1_Intron|SDC1_ENST00000254351.4_Silent_p.S287S|SDC1_ENST00000482879.1_Intron NM_001006946.1 NP_001006947.1 P18827 SDC1_HUMAN syndecan 1 287 lipid metabolic process|lipoprotein metabolic process|myoblast development|striated muscle cell development cytoplasm|extracellular region|focal adhesion|integral to plasma membrane cytoskeletal protein binding|protein C-terminus binding p.S287>?(1) NS(1)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(4)|skin(2) 21 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) OV - Ovarian serous cystadenocarcinoma(76;0.221) GCTCCTCCAAGGAGTAGCTGC 0.607000 118 233 0 0 1 0 0 SMAD2 4087 broad.mit.edu 37 18 45396871 45396871 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr18:45396871G>A ENST00000402690.2 - 3 695 c.301C>T c.(301-303)Ctt>Ttt p.L101F SMAD2_ENST00000587353.1_5'UTR|SMAD2_ENST00000356825.4_Intron|SMAD2_ENST00000586040.1_Intron|SMAD2_ENST00000591214.1_Intron|SMAD2_ENST00000262160.6_Missense_Mutation_p.L101F NM_001003652.3 NP_001003652.1 Q15796 SMAD2_HUMAN SMAD family member 2 101 MH1. anterior/posterior pattern formation|cell fate commitment|common-partner SMAD protein phosphorylation|intracellular signal transduction|mesoderm formation|negative regulation of transcription, DNA-dependent|palate development|paraxial mesoderm morphogenesis|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|primary miRNA processing|regulation of binding|regulation of transforming growth factor beta receptor signaling pathway|response to cholesterol|SMAD protein complex assembly|transforming growth factor beta receptor signaling pathway|zygotic specification of dorsal/ventral axis activin responsive factor complex|cytosol activating transcription factor binding|co-SMAD binding|double-stranded DNA binding|I-SMAD binding|R-SMAD binding|sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity|type I transforming growth factor beta receptor binding|ubiquitin protein ligase binding breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(21)|liver(1)|lung(8)|prostate(2)|urinary_tract(1) 43 AAGCTGTAAAGGCCTGTTGTA 0.408000 11 148 0 0 1 0 0 TSKS 60385 broad.mit.edu 37 19 50249852 50249852 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:50249852G>A ENST00000246801.3 - 6 949 c.867C>T c.(865-867)ccC>ccT p.P289P TSKS_ENST00000358830.3_Silent_p.P89P NM_021733.1 NP_068379.1 Q9UJT2 TSKS_HUMAN testis-specific serine kinase substrate 289 protein binding breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3) 38 all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728) OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145) AGGGTTTGTCGGGACTCCCTG 0.726000 24 51 0 0 1 0 0 ZSCAN5A 79149 broad.mit.edu 37 19 56733256 56733256 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:56733256G>A ENST00000587340.1 - 7 1874 c.1179C>T c.(1177-1179)ttC>ttT p.F393F ZSCAN5A_ENST00000592355.1_Silent_p.F392F|ZSCAN5A_ENST00000254165.3_Silent_p.F276F|ZSCAN5A_ENST00000587492.1_Silent_p.F247F|ZSCAN5A_ENST00000391713.1_Silent_p.F393F Q9BUG6 ZSA5A_HUMAN zinc finger and SCAN domain containing 5A 393 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.F393L(1) autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(12)|ovary(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 37 TAAGCTGCATGAAGCGCTTCC 0.502000 17 42 0 0 1 0 0 ABCA10 10349 broad.mit.edu 37 17 67212020 67212020 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:67212020G>A ENST00000269081.4 - 9 1703 c.794C>T c.(793-795)cCt>cTt p.P265L ABCA10_ENST00000416101.2_Missense_Mutation_p.P265L|ABCA10_ENST00000432313.2_Missense_Mutation_p.P265L NM_080282.3 NP_525021.3 Q8WWZ4 ABCAA_HUMAN ATP-binding cassette, sub-family A (ABC1), member 10 265 transport integral to membrane ATP binding|ATPase activity breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4) 81 Breast(10;6.95e-12) CAAAGATAAAGGAAGTTGTCT 0.378000 10 164 0 0 1 0 0 VCAM1 7412 broad.mit.edu 37 1 101198189 101198189 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:101198189G>A ENST00000294728.2 + 7 1842 c.1741G>A c.(1741-1743)Gga>Aga p.G581R VCAM1_ENST00000370119.4_Missense_Mutation_p.G519R|VCAM1_ENST00000370115.1_Missense_Mutation_p.G382R|VCAM1_ENST00000347652.2_Missense_Mutation_p.G489R NM_001078.3 NP_001069.1 P19320 VCAM1_HUMAN vascular cell adhesion molecule 1 581 Ig-like C2-type 6. heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome cell adhesion molecule binding|integrin binding central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 56 all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011) Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196) Carvedilol(DB01136) TTTATGTGAAGGAATTAACCA 0.413000 34 120 0 0 1 0 0 NEB 4703 broad.mit.edu 37 2 152370903 152370903 + Nonsense_Mutation SNP T T A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:152370903T>A ENST00000397345.3 - 159 23258 c.23056A>T c.(23056-23058)Aag>Tag p.K7686* NEB_ENST00000604864.1_Nonsense_Mutation_p.K7686*|NEB_ENST00000603639.1_Nonsense_Mutation_p.K7686*|NEB_ENST00000172853.10_Nonsense_Mutation_p.K5985*|NEB_ENST00000427231.2_Nonsense_Mutation_p.K7686*|NEB_ENST00000409198.1_Nonsense_Mutation_p.K5985* NM_001164508.1 NP_001157980.1 P20929 NEBU_HUMAN nebulin 5985 muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development actin cytoskeleton|cytosol|Z disc actin binding|structural constituent of muscle NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2) 301 BRCA - Breast invasive adenocarcinoma(221;0.219) GTGAGGCCCTTCCCACGGATG 0.453000 103 199 0 0 1 0 0 TDRD6 221400 broad.mit.edu 37 6 46656748 46656748 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:46656748G>A ENST00000544460.1 + 1 1137 c.883G>A c.(883-885)Gat>Aat p.D295N TDRD6_ENST00000316081.6_Missense_Mutation_p.D295N NM_001168359.1 NP_001161831.1 O60522 TDRD6_HUMAN tudor domain containing 6 295 cell differentiation|multicellular organismal development|spermatogenesis chromatoid body nucleic acid binding NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 80 Lung(136;0.192) GGGGACAGGGGATGAGAACTC 0.632000 5 81 0 0 1 0 0 TACC2 10579 broad.mit.edu 37 10 124008568 124008568 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:124008568G>A ENST00000369005.1 + 21 8897 c.8557G>A c.(8557-8559)Gaa>Aaa p.E2853K TACC2_ENST00000369004.3_Missense_Mutation_p.E913K|TACC2_ENST00000368999.1_Missense_Mutation_p.E943K|TACC2_ENST00000358010.1_Missense_Mutation_p.E999K|TACC2_ENST00000515603.1_Missense_Mutation_p.E2731K|TACC2_ENST00000369001.1_Missense_Mutation_p.E480K|TACC2_ENST00000260733.3_Missense_Mutation_p.E931K|TACC2_ENST00000334433.3_Missense_Mutation_p.E2853K|TACC2_ENST00000515273.1_Missense_Mutation_p.E2780K|TACC2_ENST00000513429.1_Missense_Mutation_p.E999K|TACC2_ENST00000360561.3_Missense_Mutation_p.E901K|TACC2_ENST00000369000.1_Missense_Mutation_p.E476K|TACC2_ENST00000453444.2_Missense_Mutation_p.E2780K NM_206862.2 NP_996744.2 O95359 TACC2_HUMAN transforming, acidic coiled-coil containing protein 2 2853 microtubule organizing center|nucleus nuclear hormone receptor binding NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 83 all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197) GTGTCAGAATGAAGAGGTGTT 0.587000 4 20 0 0 1 0 0 OBSCN 84033 broad.mit.edu 37 1 228481888 228481888 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:228481888G>A ENST00000570156.2 + 47 12528 c.12454G>A c.(12454-12456)Gaa>Aaa p.E4152K OBSCN_ENST00000284548.11_Missense_Mutation_p.E3723K|OBSCN_ENST00000366707.4_Missense_Mutation_p.E842K|OBSCN_ENST00000422127.1_Missense_Mutation_p.E3723K|OBSCN_ENST00000366709.4_Missense_Mutation_p.E842K|OBSCN_ENST00000359599.6_Missense_Mutation_p.E2570K NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 3194 Ig-like 42. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) TCTGAGGAATGAAGAGGCCAC 0.547000 19 255 0 0 1 0 0 PAM 5066 broad.mit.edu 37 5 102309885 102309885 + Translation_Start_Site SNP T T G TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:102309885T>G ENST00000379787.4 + 0 1601 PAM_ENST00000348126.2_Intron|PAM_ENST00000455264.2_Missense_Mutation_p.Y410D|PAM_ENST00000304400.7_Missense_Mutation_p.Y410D|PAM_ENST00000346918.2_Missense_Mutation_p.Y410D|PAM_ENST00000438793.3_Missense_Mutation_p.Y410D|PAM_ENST00000274392.9_Missense_Mutation_p.Y313D P19021 AMD_HUMAN peptidylglycine alpha-amidating monooxygenase peptide metabolic process|protein modification process extracellular region|integral to membrane|stored secretory granule L-ascorbic acid binding|peptidylamidoglycolate lyase activity|peptidylglycine monooxygenase activity|protein binding endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(2)|upper_aerodigestive_tract(1) 25 all_cancers(142;3.12e-07)|all_epithelial(76;3.48e-10)|Prostate(80;0.00914)|Lung NSC(167;0.0213)|Ovarian(225;0.024)|Colorectal(57;0.0251)|all_lung(232;0.0284) Epithelial(69;1.1e-13)|COAD - Colon adenocarcinoma(37;0.0127) Vitamin C(DB00126) TGTGCACAAATATAATCCTAC 0.433000 32 55 0 0 1 0 0 TBX20 57057 broad.mit.edu 37 7 35293175 35293175 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:35293175G>A ENST00000408931.3 - 1 583 c.57C>T c.(55-57)tcC>tcT p.S19S NM_001077653.2|NM_001166220.1 NP_001071121.1|NP_001159692.1 Q9UMR3 TBX20_HUMAN T-box 20 19 nucleus DNA binding central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(9)|prostate(1)|skin(1)|stomach(1) 18 GCGCGGCAATGGAGAAGGCGT 0.657000 39 53 0 0 1 0 0 TMPRSS7 344805 broad.mit.edu 37 3 111769588 111769588 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:111769588G>A ENST00000452346.2 + 9 1164 c.1161G>A c.(1159-1161)ccG>ccA p.P387P TMPRSS7_ENST00000419127.1_Silent_p.P261P Q7RTY8 TMPS7_HUMAN transmembrane protease, serine 7 387 CUB 2. proteolysis integral to membrane|plasma membrane serine-type endopeptidase activity breast(2)|endometrium(6)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 34 CATATTACCCGAGCTACTATC 0.393000 94 183 0 0 1 0 0 VCPIP1 80124 broad.mit.edu 37 8 67579062 67579062 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:67579062G>A ENST00000310421.4 - 1 390 c.132C>T c.(130-132)atC>atT p.I44I NM_025054.4 NP_079330.2 Q96JH7 VCIP1_HUMAN valosin containing protein (p97)/p47 complex interacting protein 1 44 protein ubiquitination endoplasmic reticulum|Golgi stack ubiquitin-specific protease activity breast(7)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(6)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 Lung NSC(129;0.142)|all_lung(136;0.227) Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149) TCCCGGAAAGGATTCTCCGGT 0.662000 24 38 0 0 1 0 0 PTPRH 5794 broad.mit.edu 37 19 55718268 55718268 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:55718268G>A ENST00000376350.3 - 3 163 c.141C>T c.(139-141)tcC>tcT p.S47S PTPRH_ENST00000588559.1_5'UTR|PTPRH_ENST00000263434.5_Silent_p.S47S NM_002842.3 NP_002833.3 Q9HD43 PTPRH_HUMAN protein tyrosine phosphatase, receptor type, H 47 Fibronectin type-III 1. apoptosis cytoplasm|integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2) 67 Renal(1328;0.245) BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.0479) CCCAGCTCAGGGAGATGGAGC 0.562000 41 72 0 0 1 0 0 EPHA7 2045 broad.mit.edu 37 6 93967213 93967213 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:93967213G>A ENST00000369303.4 - 12 2323 c.2139C>T c.(2137-2139)ttC>ttT p.F713F NM_004440.3 NP_004431.1 Q15375 EPHA7_HUMAN EPH receptor A7 713 Protein kinase. integral to plasma membrane ATP binding|ephrin receptor activity NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1) 112 all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142) BRCA - Breast invasive adenocarcinoma(108;0.0847) CATTTTCCATGAACTCTATTA 0.363000 15 45 0 0 1 0 0 SLC8A1 6546 broad.mit.edu 37 2 40655980 40655980 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:40655980C>T ENST00000406785.1 - 2 1630 c.1441G>A c.(1441-1443)Gat>Aat p.D481N SLC8A1_ENST00000542756.1_Missense_Mutation_p.D481N|SLC8A1_ENST00000403092.1_Missense_Mutation_p.D481N|SLC8A1_ENST00000402441.1_Missense_Mutation_p.D481N|SLC8A1_ENST00000332839.4_Missense_Mutation_p.D481N|SLC8A1_ENST00000405269.1_Missense_Mutation_p.D481N|SLC8A1_ENST00000405901.3_Missense_Mutation_p.D481N|SLC8A1_ENST00000406391.2_Missense_Mutation_p.D481N|SLC8A1_ENST00000408028.2_Missense_Mutation_p.D481N|SLC8A1_ENST00000542024.1_Missense_Mutation_p.D481N P32418 NAC1_HUMAN solute carrier family 8 (sodium/calcium exchanger), member 1 481 Calx-beta 1. cell communication|muscle contraction|platelet activation integral to plasma membrane calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2) 100 Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159) ATATCATCATCTATGATACCC 0.418000 31 77 0 0 1 0 0 SSH1 54434 broad.mit.edu 37 12 109182001 109182001 + Silent SNP G G C TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:109182001G>C ENST00000326495.5 - 15 3006 c.2913C>G c.(2911-2913)tcC>tcG p.S971S SSH1_ENST00000360239.3_Silent_p.S659S NM_018984.3 NP_061857.3 Q8WYL5 SSH1_HUMAN slingshot protein phosphatase 1 971 Interaction with YWHAG. actin cytoskeleton organization|cell morphogenesis|cellular response to ATP|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of cellular protein metabolic process|regulation of lamellipodium assembly cleavage furrow|cytoplasm|cytoskeleton|lamellipodium|midbody|plasma membrane actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 GCTTCAGTGGGGAAGAGACGG 0.637000 18 388 0 0 1 0 0 ABRA 137735 broad.mit.edu 37 8 107773539 107773539 + Missense_Mutation SNP T T C TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:107773539T>C ENST00000311955.3 - 2 926 c.872A>G c.(871-873)gAa>gGa p.E291G NM_139166.4 NP_631905.1 Q8N0Z2 ABRA_HUMAN actin-binding Rho activating protein 291 positive regulation of Rho protein signal transduction|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent|transmembrane transport actin cytoskeleton|plasma membrane|sarcomere actin binding breast(1)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|prostate(2) 27 OV - Ovarian serous cystadenocarcinoma(57;3.83e-09) TTTGGTTCCTTCTTTGGGGCG 0.512000 44 57 0 0 1 0 0 LAMA2 3908 broad.mit.edu 37 6 129635934 129635934 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:129635934C>T ENST00000421865.2 + 24 3595 c.3546C>T c.(3544-3546)atC>atT p.I1182I NM_000426.3|NM_001079823.1 NP_000417.2|NP_001073291.1 P24043 LAMA2_HUMAN laminin, alpha 2 1182 Laminin IV type A 2. cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2) 194 OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245) AAGGACTGATCCGGACGTGGG 0.512000 8 117 0 0 1 0 0 EPB41 2035 broad.mit.edu 37 1 29391656 29391656 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:29391656C>T ENST00000343067.4 + 16 2297 c.2170C>T c.(2170-2172)Ccc>Tcc p.P724S EPB41_ENST00000349460.4_Missense_Mutation_p.P501S|EPB41_ENST00000373797.1_Missense_Mutation_p.P710S|EPB41_ENST00000347529.3_Missense_Mutation_p.P635S|EPB41_ENST00000373798.1_Missense_Mutation_p.P724S|EPB41_ENST00000356093.2_Missense_Mutation_p.P691S|EPB41_ENST00000398863.2_Missense_Mutation_p.P670S|EPB41_ENST00000373800.3_Missense_Mutation_p.P482S NM_001166005.1 NP_001159477.1 P11171 41_HUMAN erythrocyte membrane protein band 4.1 (elliptocytosis 1, RH-linked) 724 Carboxyl-terminal (CTD). blood circulation|cortical actin cytoskeleton organization|positive regulation of protein binding extrinsic to membrane|Golgi apparatus|nucleus|plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton 1-phosphatidylinositol binding|actin binding|spectrin binding|structural constituent of cytoskeleton NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|urinary_tract(1) 14 Colorectal(325;3.46e-05)|Prostate(1639;0.000244)|Lung NSC(340;0.00328)|all_lung(284;0.00412)|Breast(348;0.00765)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123) Colorectal(126;3.12e-07)|COAD - Colon adenocarcinoma(152;1.21e-05)|STAD - Stomach adenocarcinoma(196;0.00395)|KIRC - Kidney renal clear cell carcinoma(1967;0.0249)|BRCA - Breast invasive adenocarcinoma(304;0.0289)|READ - Rectum adenocarcinoma(331;0.0757) TGGGCAAATCCCCACAGGAGA 0.418000 20 57 0 0 1 0 0 PCDHGA3 56112 broad.mit.edu 37 5 140725302 140725302 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:140725302C>T ENST00000253812.6 + 1 1702 c.1702C>T c.(1702-1704)Ccc>Tcc p.P568S PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron NM_018916.3|NM_032011.1 NP_061739.2|NP_114400.1 breast(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CCCCGCCCTCCCCACAGACGG 0.662000 101 216 0 0 1 0 0 MAP3K10 4294 broad.mit.edu 37 19 40711940 40711940 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:40711940G>A ENST00000253055.3 + 5 1599 c.1311G>A c.(1309-1311)gaG>gaA p.E437E NM_002446.3 NP_002437.2 Q02779 M3K10_HUMAN mitogen-activated protein kinase kinase kinase 10 437 Leucine-zipper 2. activation of JUN kinase activity|induction of apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of JNK cascade|protein autophosphorylation|smoothened signaling pathway cytoplasm ATP binding|bHLH transcription factor binding|JUN kinase kinase kinase activity|protein homodimerization activity|transcription corepressor activity NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2) 24 TGGAACGGGAGCTGCACCTGC 0.677000 16 21 0 0 1 0 0 SERPINA5 5104 broad.mit.edu 37 14 95058516 95058516 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr14:95058516C>T ENST00000329597.7 + 6 1371 c.1161C>T c.(1159-1161)ccC>ccT p.P387P SERPINA5_ENST00000554866.1_Silent_p.P387P|SERPINA5_ENST00000553780.1_Silent_p.P387P|SERPINA3_ENST00000553947.1_Intron|SERPINA5_ENST00000554276.1_Silent_p.P387P NM_000624.4 NP_000615.3 P05154 IPSP_HUMAN serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5 387 fusion of sperm to egg plasma membrane|regulation of proteolysis|spermatogenesis extracellular region|membrane|protein complex acrosin binding|heparin binding|protease binding|serine-type endopeptidase inhibitor activity p.P387P(1) endometrium(3)|large_intestine(5)|lung(18)|ovary(2)|skin(5)|upper_aerodigestive_tract(3) 36 COAD - Colon adenocarcinoma(157;0.21) Drotrecogin alfa(DB00055)|Urokinase(DB00013) TCAACAGGCCCTTTCTGATGT 0.557000 21 597 0 0 1 0 0 F8 2157 broad.mit.edu 37 X 154159336 154159336 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chrX:154159336G>A ENST00000360256.4 - 14 2929 c.2729C>T c.(2728-2730)tCa>tTa p.S910L NM_000132.3 NP_000123.1 P00451 FA8_HUMAN coagulation factor VIII, procoagulant component 910 B. acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation extracellular space|plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity|protein binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2) 120 all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055) CAAATTGTCTGATGGAATTGT 0.363000 47 16 0 0 1 0 0 VWA3A 146177 broad.mit.edu 37 16 22163864 22163864 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr16:22163864C>T ENST00000389397.4 + 32 3482 c.620C>T c.(619-621)tCc>tTc p.S207F VWA3A_ENST00000563755.1_Missense_Mutation_p.S207F|VWA3A_ENST00000389398.5_Missense_Mutation_p.S1105F A6NCI4 VWA3A_HUMAN von Willebrand factor A domain containing 3A 1105 extracellular region haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1) 7 GBM - Glioblastoma multiforme(48;0.0439) AAGCTGGCTTCCTTCACCGGC 0.567000 12 28 0 0 1 0 0 LRRC37A11P 342666 broad.mit.edu 37 17 37187615 37187615 + RNA SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:37187615G>A ENST00000425901.2 + 0 1457 NR_033753.2 GCCTCCTAAGGAAGTTGTACC 0.512000 45 91 0 0 1 0 0 DCC 1630 broad.mit.edu 37 18 50912472 50912472 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr18:50912472C>T ENST00000442544.2 + 16 3035 c.2419C>T c.(2419-2421)Cct>Tct p.P807S DCC_ENST00000581580.1_Missense_Mutation_p.P462S|DCC_ENST00000412726.1_Missense_Mutation_p.P655S NM_005215.3 NP_005206.2 P43146 DCC_HUMAN deleted in colorectal carcinoma 807 Fibronectin type-III 4. apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development cytosol|integral to membrane NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6) 148 all_cancers(7;0.11)|all_epithelial(6;0.00126) Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942) AGAAGGAGTTCCTCTTTATGA 0.348000 28 73 0 0 1 0 0 SLC26A9 115019 broad.mit.edu 37 1 205884176 205884176 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:205884176G>A ENST00000367134.2 - 22 2621 c.2508C>T c.(2506-2508)tcC>tcT p.S836S SLC26A9_ENST00000340781.4_Silent_p.S836S|SLC26A9_ENST00000367135.3_3'UTR NM_134325.2 NP_599152.2 Q7LBE3 S26A9_HUMAN solute carrier family 26 (anion exchanger), member 9 0 integral to membrane chloride channel activity|secondary active sulfate transmembrane transporter activity NS(1)|breast(3)|endometrium(11)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|skin(7)|urinary_tract(5) 52 Breast(84;0.201) BRCA - Breast invasive adenocarcinoma(75;0.0458) CAGCTGCCAAGGACAGGGCAG 0.557000 80 95 0 0 1 0 0 OR2F2 135948 broad.mit.edu 37 7 143633243 143633243 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:143633243G>A ENST00000408955.2 + 1 985 c.918G>A c.(916-918)gaG>gaA p.E306E NM_001004685.1 NP_001004685.1 O95006 OR2F2_HUMAN olfactory receptor, family 2, subfamily F, member 2 306 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(19)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1) 32 Melanoma(164;0.0903) AACTATTAGAGAAATTCTCTG 0.418000 31 73 0 0 1 0 0 MXRA5 25878 broad.mit.edu 37 X 3228576 3228576 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chrX:3228576C>T ENST00000217939.6 - 7 7822 c.7668G>A c.(7666-7668)gcG>gcA p.A2556A NM_015419.3 NP_056234.2 Q9NR99 MXRA5_HUMAN matrix-remodelling associated 5 2556 Ig-like C2-type 10. extracellular region NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2) 157 all_lung(23;0.00031)|Lung NSC(23;0.000946) TGGTGTGGCCCGCCATGGCCG 0.637000 28 5 0 0 1 0 0 ABCB1 5243 broad.mit.edu 37 7 87183232 87183232 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:87183232C>T ENST00000265724.3 - 10 1261 c.844G>A c.(844-846)Gaa>Aaa p.E282K ABCB1_ENST00000543898.1_Missense_Mutation_p.E218K NM_000927.4 NP_000918.2 P08183 MDR1_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 1 282 ABC transmembrane type-1 1. G2/M transition of mitotic cell cycle|stem cell proliferation apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction ATP binding|protein binding|xenobiotic-transporting ATPase activity NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1) 111 Esophageal squamous(14;0.00164) Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570) TTAGCTTCTTCTAAATTTTTG 0.348000 50 140 0 0 1 0 0 SHOX 6473 broad.mit.edu 37 X 591789 591789 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chrX:591789G>A ENST00000381578.1 + 2 848 c.157G>A c.(157-159)Gat>Aat p.D53N SHOX_ENST00000334060.3_Missense_Mutation_p.D53N|SHOX_ENST00000554971.1_Missense_Mutation_p.D53N|SHOX_ENST00000381575.1_Missense_Mutation_p.D53N NM_000451.3 NP_000442.1 O15266 SHOX_HUMAN short stature homeobox 53 skeletal system development|transcription from RNA polymerase II promoter nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(3)|lung(9)|prostate(1) 13 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) GGGGACGTCGGATTCCAGCCT 0.602000 148 66 0 0 1 0 0 C6orf195 154386 broad.mit.edu 37 6 2623737 2623737 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:2623737G>A ENST00000296847.3 - 3 843 c.320C>T c.(319-321)cCc>cTc p.P107L NM_152554.2 NP_689767.2 Q96MT4 CF195_HUMAN chromosome 6 open reading frame 195 107 cervix(1)|endometrium(1)|lung(2)|skin(1) 5 Ovarian(93;0.0412) all_hematologic(90;0.0895) CAGATGGCAGGGAGTGGCCTG 0.537000 18 61 0 0 1 0 0 TTLL2 83887 broad.mit.edu 37 6 167755069 167755069 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:167755069C>T ENST00000239587.5 + 3 1769 c.1681C>T c.(1681-1683)Cct>Tct p.P561S NM_031949.4 NP_114155.4 Q9BWV7 TTLL2_HUMAN tubulin tyrosine ligase-like family, member 2 561 protein modification process ATP binding|tubulin-tyrosine ligase activity central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 Breast(66;7.8e-06)|Ovarian(120;0.024) OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492) TCTTGTTTTTCCTTTCAATGA 0.458000 20 61 0 0 1 0 0 SFRP4 6424 broad.mit.edu 37 7 37947194 37947194 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:37947194G>A ENST00000436072.2 - 6 1305 c.928C>T c.(928-930)Cgt>Tgt p.R310C EPDR1_ENST00000476620.1_Intron NM_003014.3 NP_003005.2 Q6FHJ7 SFRP4_HUMAN secreted frizzled-related protein 4 310 brain development|cell differentiation|decidualization|embryo development|epithelium development|gonad development|mammary gland involution|menstrual cycle phase|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell proliferation|negative regulation of JNK cascade|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of sodium-dependent phosphate transport|phosphate ion homeostasis|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epidermal cell differentiation|positive regulation of gene expression|positive regulation of receptor internalization|vasculature development|Wnt receptor signaling pathway cell surface|cytoplasm|extracellular space|nucleus PDZ domain binding|Wnt receptor activity|Wnt-protein binding endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(13)|upper_aerodigestive_tract(2)|urinary_tract(1) 29 GGATTACTACGACTGGTGCGC 0.502000 7 150 0 0 1 0 0 BRD1 23774 broad.mit.edu 37 22 50216835 50216835 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr22:50216835G>A ENST00000216267.8 - 1 1617 c.1131C>T c.(1129-1131)ttC>ttT p.F377F BRD1_ENST00000342989.5_5'UTR|BRD1_ENST00000404034.1_Silent_p.F377F|BRD1_ENST00000459821.1_5'UTR|BRD1_ENST00000404760.1_Silent_p.F377F|BRD1_ENST00000542442.1_Silent_p.F16F|BRD1_ENST00000457780.2_Silent_p.F377F NM_014577.1 NP_055392.1 O95696 BRD1_HUMAN bromodomain containing 1 377 histone H3 acetylation MOZ/MORF histone acetyltransferase complex zinc ion binding endometrium(6)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|skin(1) 37 all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164) UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21) TTCTGACGGAGAAGGTGGTGC 0.542000 94 217 0 0 1 0 0 DDX4 54514 broad.mit.edu 37 5 55081145 55081145 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:55081145G>A ENST00000505374.1 + 11 738 c.646G>A c.(646-648)Gaa>Aaa p.E216K DDX4_ENST00000353507.5_Missense_Mutation_p.E182K|DDX4_ENST00000514278.2_Missense_Mutation_p.E196K|DDX4_ENST00000354991.5_Missense_Mutation_p.E182K|DDX4_ENST00000511853.1_Intron NM_024415.2 NP_077726.1 Q9NQI0 DDX4_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 4 216 Gly-rich. multicellular organismal development|sperm motility perinuclear region of cytoplasm|pi-body|piP-body ATP binding|ATP-dependent helicase activity|nucleic acid binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(2) 24 Lung NSC(810;6.93e-05)|all_neural(839;0.00409)|Prostate(74;0.0107)|Breast(144;0.0544)|Ovarian(174;0.223) AGGTTTAAATGAAGAAGTAAT 0.318000 47 105 0 0 1 0 0 MMP19 4327 broad.mit.edu 37 12 56233413 56233413 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:56233413G>A ENST00000322569.4 - 5 724 c.633C>T c.(631-633)gcC>gcT p.A211A MMP19_ENST00000409200.3_Intron|MMP19_ENST00000548629.1_Silent_p.A188A NM_002429.4 NP_002420.1 Q99542 MMP19_HUMAN matrix metallopeptidase 19 211 angiogenesis|cell differentiation|collagen catabolic process|proteolysis proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding endometrium(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(2) 26 CCACTTCATGGGCTGCAATGA 0.622000 24 58 0 0 1 0 0 PNPLA6 10908 broad.mit.edu 37 19 7606432 7606432 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:7606432C>T ENST00000221249.6 + 12 1344 c.913C>T c.(913-915)Ccc>Tcc p.P305S PNPLA6_ENST00000545201.2_Missense_Mutation_p.P305S|PNPLA6_ENST00000450331.3_Missense_Mutation_p.P305S|PNPLA6_ENST00000414982.3_Missense_Mutation_p.P353S|PNPLA6_ENST00000600737.1_Missense_Mutation_p.P344S NM_006702.4 NP_006693.3 Q8IY17 PLPL6_HUMAN patatin-like phospholipase domain containing 6 344 cell death|lipid catabolic process|phosphatidylcholine metabolic process endoplasmic reticulum membrane|integral to membrane lysophospholipase activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1) 35 GCGTCTGTTCCCCAGCCCCGG 0.697000 9 16 0 0 1 0 0 ITIH5 80760 broad.mit.edu 37 10 7621747 7621747 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:7621747C>T ENST00000256861.6 - 9 1467 c.1389G>A c.(1387-1389)gaG>gaA p.E463E ITIH5_ENST00000397146.2_Silent_p.E463E|ITIH5_ENST00000298441.6_Silent_p.E249E|ITIH5_ENST00000397145.2_Silent_p.E463E|ITIH5_ENST00000446830.2_Silent_p.E245E|ITIH5_ENST00000434980.1_5'UTR NM_030569.6 NP_085046.5 Q86UX2 ITIH5_HUMAN inter-alpha-trypsin inhibitor heavy chain family, member 5 463 VWFA. hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3) 75 CGTCCTCCTCCTCGTGCACGC 0.602000 48 79 0 0 1 0 0 VDR 7421 broad.mit.edu 37 12 48272866 48272866 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:48272866G>A ENST00000229022.3 - 4 312 c.31C>T c.(31-33)Cct>Tct p.P11S VDR_ENST00000550325.1_Missense_Mutation_p.P61S|VDR_ENST00000535672.1_5'UTR|VDR_ENST00000395324.2_Missense_Mutation_p.P11S|VDR_ENST00000549336.1_Missense_Mutation_p.P11S NM_001017535.1 NP_001017535.1 P11473 VDR_HUMAN vitamin D (1,25- dihydroxyvitamin D3) receptor 11 decidualization|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of vitamin D 24-hydroxylase activity|regulation of calcidiol 1-monooxygenase activity|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm retinoid X receptor binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|vitamin D3 receptor activity|zinc ion binding central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(10)|ovary(3)|skin(2) 22 Acute lymphoblastic leukemia(13;0.109)|all_hematologic(14;0.214) GBM - Glioblastoma multiforme(48;0.17) Calcidiol(DB00146)|Calcipotriol(DB02300)|Calcitriol(DB00136)|Dihydrotachysterol(DB01070)|Ergocalciferol(DB00153)|Paricalcitol(DB00910) CCAGGGTCAGGCAGGGAAGTG 0.602000 22 78 0 0 1 0 0 CELSR1 9620 broad.mit.edu 37 22 46773084 46773084 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr22:46773084G>A ENST00000262738.3 - 24 7457 c.7458C>T c.(7456-7458)gcC>gcT p.A2486A NM_014246.1 NP_055061.1 Q9NYQ6 CELR1_HUMAN cadherin, EGF LAG seven-pass G-type receptor 1 2486 central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway integral to plasma membrane calcium ion binding|G-protein coupled receptor activity|protein dimerization activity breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3) 95 Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766) UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171) GGAGGACGAAGGCCACCAGCA 0.607000 8 71 0 0 1 0 0 OR5AU1 390445 broad.mit.edu 37 14 21623859 21623859 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr14:21623859G>A ENST00000304418.3 - 1 363 c.326C>T c.(325-327)cCc>cTc p.P109L NM_001004731.1 NP_001004731.1 Q8NGC0 O5AU1_HUMAN olfactory receptor, family 5, subfamily AU, member 1 109 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(12)|pancreas(1) 21 all_cancers(95;0.00238) Epithelial(56;6.88e-07)|all cancers(55;6.02e-06) GBM - Glioblastoma multiforme(265;0.0192) GGAGTACATGGGTGTGTGCAG 0.562000 25 53 0 0 1 0 0 GRIK3 2899 broad.mit.edu 37 1 37267488 37267488 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:37267488C>T ENST00000373091.3 - 16 2740 c.2724G>A c.(2722-2724)atG>atA p.M908I NM_000831.3 NP_000822.2 Q13003 GRIK3_HUMAN glutamate receptor, ionotropic, kainate 3 908 negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1) 89 Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169) L-Glutamic Acid(DB00142) TGCTGCAGGCCATGCTGTCCT 0.597000 19 66 0 0 1 0 0 DMBT1 1755 broad.mit.edu 37 10 124338233 124338233 + Splice_Site SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:124338233G>A ENST00000338354.3 + 9 743 c.e9-1 DMBT1_ENST00000368955.3_Splice_Site|DMBT1_ENST00000344338.3_Splice_Site|DMBT1_ENST00000359586.6_Intron|DMBT1_ENST00000368909.3_Splice_Site|DMBT1_ENST00000330163.4_Splice_Site|DMBT1_ENST00000368956.2_Splice_Site Q9UGM3 DMBT1_HUMAN deleted in malignant brain tumors 1 epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3) 72 all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238) GCTGTTTACAGAAAGTTGGCC 0.448000 10 15 0 0 1 0 0 PDE2A 5138 broad.mit.edu 37 11 72295940 72295940 + Silent SNP G G A rs145415914 TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:72295940G>A ENST00000334456.5 - 17 1580 c.1335C>T c.(1333-1335)ttC>ttT p.F445F PDE2A_ENST00000444035.2_Silent_p.F436F|PDE2A_ENST00000376450.3_Silent_p.F189F|PDE2A_ENST00000418754.2_Silent_p.F330F|PDE2A_ENST00000544570.1_Silent_p.F438F|PDE2A_ENST00000540345.1_Silent_p.F436F|RP11-169D4.2_ENST00000545254.1_RNA NM_002599.4 NP_002590.1 O00408 PDE2A_HUMAN phosphodiesterase 2A, cGMP-stimulated 445 GAF 2. platelet activation|signal transduction cytosol 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity|metal ion binding breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 36 BRCA - Breast invasive adenocarcinoma(5;3.55e-05) Sildenafil(DB00203)|Sulindac(DB00605) CGCCCCCGTCGAACACCTTGG 0.662000 54 103 0 0 1 0 0 TMPRSS6 164656 broad.mit.edu 37 22 37462258 37462258 + Silent SNP C C A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr22:37462258C>A ENST00000381792.2 - 19 2477 c.2337G>T c.(2335-2337)ctG>ctT p.L779L TMPRSS6_ENST00000406725.1_Silent_p.L757L|TMPRSS6_ENST00000406856.1_Silent_p.L779L|TMPRSS6_ENST00000346753.3_Silent_p.L766L Q8IU80 TMPS6_HUMAN transmembrane protease, serine 6 766 Peptidase S1. angiogenesis|extracellular matrix organization|fibrinolysis|intracellular signal transduction|proteolysis integral to membrane|intracellular|plasma membrane serine-type endopeptidase activity breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3) 40 CCTTGCACACCAGCGGACCAC 0.612000 13 33 9.31168e-06 9.34421e-06 1 1 0 LEPR 3953 broad.mit.edu 37 1 66102324 66102324 + Nonsense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:66102324C>T ENST00000349533.6 + 20 3309 c.3124C>T c.(3124-3126)Cag>Tag p.Q1042* LEPR_ENST00000406510.3_Nonsense_Mutation_p.Q109* NM_002303.5 NP_002294.2 P48357 LEPR_HUMAN leptin receptor 1042 energy reserve metabolic process|multicellular organismal development extracellular region|integral to membrane|plasma membrane cytokine receptor activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2) 36 OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094) ATTATCAGATCAGCATCCCAA 0.373000 9 237 0 0 1 0 0 PGS1 9489 broad.mit.edu 37 17 76395517 76395517 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:76395517C>T ENST00000262764.6 + 5 626 c.600C>T c.(598-600)ctC>ctT p.L200L PGS1_ENST00000588281.1_3'UTR|PGS1_ENST00000329897.7_Silent_p.L65L NM_024419.3 NP_077733.3 Q32NB8 PGPS1_HUMAN phosphatidylglycerophosphate synthase 1 200 phospholipid biosynthetic process endoplasmic reticulum|mitochondrion ATP binding|CDP-diacylglycerol-glycerol-3-phosphate 3-phosphatidyltransferase activity cervix(2)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)|urinary_tract(1) 10 BRCA - Breast invasive adenocarcinoma(99;0.00144)|OV - Ovarian serous cystadenocarcinoma(97;0.031) CGCCGCACCTCCGTGGGCTGC 0.607000 8 193 0 0 1 0 0 LRRC49 54839 broad.mit.edu 37 15 71300910 71300910 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr15:71300910C>T ENST00000260382.5 + 12 1622 c.1362C>T c.(1360-1362)atC>atT p.I454I LRRC49_ENST00000544974.2_Silent_p.I444I|LRRC49_ENST00000436542.2_3'UTR|LRRC49_ENST00000560158.2_Silent_p.I142I|LRRC49_ENST00000560691.1_Silent_p.I160I|LRRC49_ENST00000443425.2_Silent_p.I410I|LRRC49_ENST00000560369.1_Silent_p.I459I NM_001199017.1|NM_017691.3 NP_001185946.1|NP_060161.2 Q8IUZ0 LRC49_HUMAN leucine rich repeat containing 49 454 cytoplasm|microtubule breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(3)|skin(3) 34 TTGATGAAATCGTCCAAGTGC 0.363000 15 56 0 0 1 0 0 ICK 22858 broad.mit.edu 37 6 52902770 52902770 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:52902770G>A ENST00000356971.3 - 4 612 c.123C>T c.(121-123)tcC>tcT p.S41S ICK_ENST00000350082.5_Silent_p.S41S NM_016513.4 NP_057597.2 Q9UPZ9 ICK_HUMAN intestinal cell (MAK-like) kinase 41 Protein kinase. intracellular protein kinase cascade|multicellular organismal development cytosol|nucleus ATP binding|cyclin-dependent protein kinase activity|magnesium ion binding breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(3)|stomach(1) 31 Lung NSC(77;0.103) ATTCCTCCCAGGAATAAAATT 0.303000 19 42 0 0 1 0 0 ELTD1 64123 broad.mit.edu 37 1 79392687 79392687 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:79392687C>T ENST00000370742.3 - 8 1030 c.967G>A c.(967-969)Gat>Aat p.D323N NM_022159.3 NP_071442.2 Q9HBW9 ELTD1_HUMAN EGF, latrophilin and seven transmembrane domain containing 1 323 neuropeptide signaling pathway integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 69 COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148) TCAGAATTATCATAATTTTGA 0.323000 25 61 0 0 1 0 0 SDK1 221935 broad.mit.edu 37 7 4089020 4089020 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:4089020G>A ENST00000404826.2 + 18 2782 c.2643G>A c.(2641-2643)gtG>gtA p.V881V SDK1_ENST00000389531.3_Silent_p.V881V NM_152744.3 NP_689957.3 Q7Z5N4 SDK1_HUMAN sidekick cell adhesion molecule 1 881 Fibronectin type-III 3. cell adhesion integral to membrane NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4) 153 all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194) UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15) CGGAAGCCGTGAACTCCACCA 0.592000 26 51 0 0 1 0 0 SLC5A11 115584 broad.mit.edu 37 16 24909426 24909426 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr16:24909426C>T ENST00000449109.2 + 9 888 c.604C>T c.(604-606)Ccc>Tcc p.P202S SLC5A11_ENST00000545376.1_Silent_p.F264F|SLC5A11_ENST00000565769.1_Silent_p.F270F|SLC5A11_ENST00000347898.3_Silent_p.F334F|SLC5A11_ENST00000424767.2_Silent_p.F299F|SLC5A11_ENST00000568579.1_Silent_p.F264F|SLC5A11_ENST00000539472.1_Silent_p.F270F|SLC5A11_ENST00000569071.1_Missense_Mutation_p.P202S|SLC5A11_ENST00000567758.1_Silent_p.F299F NM_001258414.1 NP_001245343.1 Q8WWX8 SC5AB_HUMAN solute carrier family 5 (sodium/inositol cotransporter), member 11 366 apoptosis|carbohydrate transport|sodium ion transport integral to membrane|plasma membrane polyol transmembrane transporter activity|symporter activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(30)|ovary(2)|prostate(2)|urinary_tract(1) 49 GBM - Glioblastoma multiforme(48;0.0365) GCATCCTCTTCCCAGGTGAGA 0.493000 6 146 0 0 1 0 0 POTEF 728378 broad.mit.edu 37 2 130832731 130832731 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:130832731C>T ENST00000357462.5 - 15 2407 c.2314G>A c.(2314-2316)Gaa>Aaa p.E772K POTEF_ENST00000409914.2_Missense_Mutation_p.E772K A5A3E0 POTEF_HUMAN POTE ankyrin domain family, member F 772 Actin-like. cell cortex ATP binding breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1) 53 ATGCCGTGTTCCATGGGGTAC 0.582000 6 224 0 0 1 0 0 RAB37 326624 broad.mit.edu 37 17 72667780 72667780 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:72667780G>A ENST00000340415.3 + 1 1064 c.55G>A c.(55-57)Gac>Aac p.D19N RAB37_ENST00000402449.4_Missense_Mutation_p.D19N NM_175738.4 NP_783865.1 Q96AX2 RAB37_HUMAN RAB37, member RAS oncogene family 0 protein transport|small GTPase mediated signal transduction ER-Golgi intermediate compartment GTP binding breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1) 12 TGACTTCAACGACCACGTCCT 0.582000 34 87 0 0 1 0 0 SPINK5 11005 broad.mit.edu 37 5 147481373 147481373 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:147481373G>A ENST00000359874.3 + 15 1405 c.1332G>A c.(1330-1332)agG>agA p.R444R SPINK5_ENST00000398454.1_Silent_p.R444R|SPINK5_ENST00000256084.7_Silent_p.R444R NM_001127698.1 NP_001121170.1 Q9NQ38 ISK5_HUMAN serine peptidase inhibitor, Kazal type 5 444 Kazal-like 7. anagen|epithelial cell differentiation|extracellular matrix organization|hair cell differentiation|negative regulation of angiogenesis|negative regulation of immune response|regulation of T cell differentiation cell cortex|cytosol|endoplasmic reticulum membrane|extracellular region|lamellar body|perinuclear region of cytoplasm serine-type endopeptidase inhibitor activity breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(8)|upper_aerodigestive_tract(2) 64 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCAAATCCAGGAAAAACGGAC 0.458000 41 68 0 0 1 0 0 CDH23 64072 broad.mit.edu 37 10 73560419 73560419 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:73560419G>A ENST00000224721.6 + 52 7409 c.7404G>A c.(7402-7404)ctG>ctA p.L2468L CDH23_ENST00000398788.3_Silent_p.L223L|CDH23_ENST00000475158.1_3'UTR NM_022124.5 NP_071407.4 Q9H251 CAD23_HUMAN cadherin-related 23 2463 Cadherin 23. calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound cytosol|integral to membrane|plasma membrane|stereocilium calcium ion binding|protein binding NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3) 133 TGTCTTCTCTGGACCGGGAGA 0.502000 22 23 0 0 1 0 0 PRB4 5545 broad.mit.edu 37 12 11461817 11461817 + Splice_Site SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:11461817C>T ENST00000279575.1 - 3 134 c.e3-1 PRB4_ENST00000535904.1_Splice_Site|PRB4_ENST00000445719.2_Splice_Site NM_001261399.1|NM_002723.4 NP_001248328.1|NP_002714.2 P10163 PRB4_HUMAN proline-rich protein BstNI subfamily 4 extracellular region breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|skin(4)|upper_aerodigestive_tract(3) 30 TCTGGCTTTCCTGGAGGAGGT 0.522000 HNSCC(22;0.051) 23 387 0 0 1 0 0 SLC35E2 9906 broad.mit.edu 37 1 1670393 1670393 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:1670393G>A ENST00000355439.2 - 4 1186 c.426C>T c.(424-426)ttC>ttT p.F142F SLC35E2_ENST00000400924.1_Silent_p.F142F|SLC35E2_ENST00000246421.4_Silent_p.F142F NM_001199787.1 NP_001186716.1 P0CK97 S35E2_HUMAN solute carrier family 35, member E2 142 integral to membrane endometrium(2)|lung(4)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 9 all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;5.61e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) Epithelial(90;5.26e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.54e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|BRCA - Breast invasive adenocarcinoma(365;0.00786)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199) TCGTCATAAGGAAGTTGGGTG 0.473000 10 37 0 0 1 0 0 C14orf166B 145497 broad.mit.edu 37 14 77297562 77297562 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr14:77297562C>T ENST00000393774.3 + 3 358 c.234C>T c.(232-234)ttC>ttT p.F78F C14orf166B_ENST00000460005.1_3'UTR|C14orf166B_ENST00000450042.2_Silent_p.F61F NM_194287.2 NP_919263.2 Q0VAA2 CN16B_HUMAN chromosome 14 open reading frame 166B 78 breast(1)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(1) 18 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0306) AGAAATTTTTCACCACTGGAC 0.498000 6 64 0 0 1 0 0 ALKBH6 84964 broad.mit.edu 37 19 36503943 36503943 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:36503943C>T ENST00000378875.3 - 3 192 c.187G>A c.(187-189)Gag>Aag p.E63K ALKBH6_ENST00000252984.7_Missense_Mutation_p.E35K|AC002116.8_ENST00000473572.2_RNA|ALKBH6_ENST00000495116.2_5'UTR|ALKBH6_ENST00000486389.1_Intron|ALKBH6_ENST00000485128.1_Missense_Mutation_p.E35K NM_032878.3|NM_198867.1 NP_116267.3|NP_942567.1 Q3KRA9 ALKB6_HUMAN alkB, alkylation repair homolog 6 (E. coli) 35 cytoplasm|nucleus metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|skin(1) 9 all_lung(56;1.35e-06)|Lung NSC(56;2.15e-06)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.06) AAATACTCCTCCTCTTCTTTG 0.517000 56 123 0 0 1 0 0 AKAP14 158798 broad.mit.edu 37 X 119054504 119054504 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chrX:119054504G>A ENST00000371431.3 + 7 802 c.528G>A c.(526-528)caG>caA p.Q176Q AKAP14_ENST00000334356.2_Silent_p.Q116Q|AKAP14_ENST00000371423.2_Silent_p.Q117Q|AKAP14_ENST00000491105.1_3'UTR|AKAP14_ENST00000371425.4_Silent_p.Q116Q NM_178813.5 NP_848928.1 Q86UN6 AKA28_HUMAN A kinase (PRKA) anchor protein 14 176 cytoplasm endometrium(4)|large_intestine(1)|lung(8) 13 AAAACTGGCAGAAGAATCTTA 0.328000 4 74 0 0 1 0 0 RABGAP1L 9910 broad.mit.edu 37 1 174606513 174606513 + Splice_Site SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:174606513G>A ENST00000251507.4 + 14 1885 c.1710_splice c.e14-1 p.D571_splice NM_014857.4 NP_055672.3 Q5R372 RBG1L_HUMAN RAB GTPase activating protein 1-like 571 Rab-GAP TBC. regulation of protein localization early endosome|Golgi apparatus|nucleus Rab GTPase activator activity NS(1)|breast(2)|endometrium(4)|kidney(5)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(2) 45 TCTTTTTTAGGACTCAGCCCA 0.333000 11 102 0 0 1 0 0 SYTL5 94122 broad.mit.edu 37 X 37893197 37893197 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chrX:37893197G>A ENST00000357972.5 + 2 601 c.55G>A c.(55-57)Gaa>Aaa p.E19K TM4SF2_ENST00000465127.1_Intron|SYTL5_ENST00000297875.2_Missense_Mutation_p.E19K|SYTL5_ENST00000456733.2_Missense_Mutation_p.E19K Q8TDW5 SYTL5_HUMAN synaptotagmin-like 5 19 RabBD. intracellular protein transport membrane metal ion binding|Rab GTPase binding central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(23)|prostate(1)|skin(2)|urinary_tract(1) 44 TCATGAGAAGGAAATGATCCT 0.368000 31 10 0 0 1 0 0 MYH2 4620 broad.mit.edu 37 17 10440638 10440638 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:10440638G>A ENST00000245503.5 - 16 2193 c.1809C>T c.(1807-1809)ccC>ccT p.P603P MYH2_ENST00000397183.2_Silent_p.P603P|MYH2_ENST00000532183.1_Silent_p.P603P|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA NM_017534.5 NP_060004.3 Q9UKX2 MYH2_HUMAN myosin, heavy chain 2, skeletal muscle, adult 603 Myosin head-like. muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4) 176 TCTCATTCAGGGGGTCCTTGT 0.512000 87 168 0 0 1 0 0 USP39 10713 broad.mit.edu 37 2 85850757 85850757 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:85850757C>T ENST00000450066.2 + 3 334 c.113C>T c.(112-114)cCc>cTc p.P38L USP39_ENST00000459775.1_3'UTR|USP39_ENST00000409470.1_Intron|USP39_ENST00000409766.3_Intron|USP39_ENST00000409025.1_Intron|USP39_ENST00000323701.6_Intron NM_001256727.1|NM_001256728.1 NP_001243656.1|NP_001243657.1 Q53GS9 SNUT2_HUMAN ubiquitin specific peptidase 39 141 Arg-rich. spliceosome assembly|ubiquitin-dependent protein catabolic process nucleus protein binding|ubiquitin thiolesterase activity|zinc ion binding breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1) 19 AGCTTTTCACCCTTCCCTACA 0.438000 67 160 0 0 1 0 0 REEP1 65055 broad.mit.edu 37 2 86459862 86459862 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:86459862C>T ENST00000165698.5 - 6 624 c.481G>A c.(481-483)Gga>Aga p.G161R REEP1_ENST00000473407.1_5'UTR|REEP1_ENST00000535845.1_Missense_Mutation_p.G134R|REEP1_ENST00000540790.1_Missense_Mutation_p.G140R|REEP1_ENST00000541910.1_Silent_p.G82G|REEP1_ENST00000538924.1_Missense_Mutation_p.G168R NM_022912.2 NP_075063.1 Q9H902 REEP1_HUMAN receptor accessory protein 1 161 cell death|protein insertion into membrane integral to membrane|mitochondrial membrane olfactory receptor binding breast(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 13 GCGCCGTCTCCCCTGATGGTG 0.657000 4 82 0 0 1 0 0 STRA6 64220 broad.mit.edu 37 15 74473679 74473679 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr15:74473679C>T ENST00000323940.5 - 17 1886 c.1641G>A c.(1639-1641)atG>atA p.M547I STRA6_ENST00000449139.2_Missense_Mutation_p.M547I|STRA6_ENST00000535552.1_Missense_Mutation_p.M584I|STRA6_ENST00000574439.1_5'UTR|STRA6_ENST00000423167.2_Missense_Mutation_p.M538I|STRA6_ENST00000563965.1_Missense_Mutation_p.M586I|STRA6_ENST00000416286.3_Missense_Mutation_p.M539I|STRA6_ENST00000574278.1_Missense_Mutation_p.M562I|STRA6_ENST00000395105.4_Missense_Mutation_p.M547I NM_001142617.1|NM_001142618.1|NM_001142619.1 NP_001136089.1|NP_001136090.1|NP_001136091.1 Q9BX79 STRA6_HUMAN stimulated by retinoic acid 6 547 adrenal gland development|alveolar primary septum development|developmental growth|diaphragm development|digestive tract morphogenesis|ear development|embryonic camera-type eye formation|embryonic digestive tract development|eyelid development in camera-type eye|face morphogenesis|feeding behavior|female genitalia development|kidney development|lung vasculature development|neuromuscular process|nose morphogenesis|paramesonephric duct development|positive regulation of behavior|pulmonary artery morphogenesis|pulmonary valve morphogenesis|smooth muscle tissue development|transport|uterus morphogenesis|ventricular septum development|vocal learning integral to membrane|plasma membrane|protein complex receptor activity NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(5)|skin(1)|stomach(2) 26 GGCTGAGGTCCATCTGGCCAA 0.632000 16 32 0 0 1 0 0 ANTXR1 84168 broad.mit.edu 37 2 69409784 69409784 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:69409784C>T ENST00000303714.4 + 16 1667 c.1345C>T c.(1345-1347)Cca>Tca p.P449S NM_032208.2 NP_115584.1 Q9H6X2 ANTR1_HUMAN anthrax toxin receptor 1 449 actin cytoskeleton reorganization|substrate adhesion-dependent cell spreading filopodium membrane|integral to membrane|lamellipodium membrane actin filament binding|collagen binding|metal ion binding|protein binding|transmembrane receptor activity haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 29 GTGGTACTCTCCAATCAAGGT 0.423000 Familial Infantile Hemangioma 39 86 0 0 1 0 0 KMT2C 58508 broad.mit.edu 37 7 151927069 151927069 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:151927069C>T ENST00000355193.2 - 18 3133 c.2915G>A c.(2914-2916)gGa>gAa p.G972E KMT2C_ENST00000262189.6_Missense_Mutation_p.G972E lysine (K)-specific methyltransferase 2C p.G972E(4) AAGTAATCTTCCTTCTGCTCC 0.353000 27 525 0 0 1 0 0 TENM1 10178 broad.mit.edu 37 X 123787487 123787487 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chrX:123787487C>T ENST00000422452.2 - 7 1378 c.1315G>A c.(1315-1317)Gac>Aac p.D439N TENM1_ENST00000371130.3_Missense_Mutation_p.D439N NM_001163278.1|NM_001163279.1 NP_001156750.1|NP_001156751.1 teneurin transmembrane protein 1 AGCAGAGAGTCCTTGGCTAAA 0.393000 81 33 0 0 1 0 0 AIM1 202 broad.mit.edu 37 6 106967178 106967178 + Nonsense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:106967178C>T ENST00000369066.3 + 2 1358 c.871C>T c.(871-873)Cga>Tga p.R291* NM_001624.2 NP_001615.1 Q9Y4K1 AIM1_HUMAN absent in melanoma 1 291 sugar binding p.R291*(1) breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 69 Breast(9;0.0138)|all_epithelial(6;0.169) all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473) Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305) all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858) CACTGACATTCGAGGCCAAAG 0.433000 6 105 0 0 1 0 0 RNASEL 6041 broad.mit.edu 37 1 182553236 182553236 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:182553236C>T ENST00000367559.3 - 3 1799 c.1546G>A c.(1546-1548)Gaa>Aaa p.E516K RNASEL_ENST00000444138.1_Missense_Mutation_p.E516K|RNASEL_ENST00000539397.1_Missense_Mutation_p.E516K NM_021133.3 NP_066956.1 Q05823 RN5A_HUMAN ribonuclease L (2',5'-oligoisoadenylate synthetase-dependent) 516 Protein kinase. mRNA processing|response to virus|type I interferon-mediated signaling pathway mitochondrion ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|metal ion binding|protein kinase activity|RNA binding NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(1) 27 CTCTTGACTTCCTGTGGATCT 0.408000 6 222 0 0 1 0 0 PCDHA4 56144 broad.mit.edu 37 5 140189081 140189081 + Missense_Mutation SNP T T C TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:140189081T>C ENST00000530339.1 + 1 2309 c.2309T>C c.(2308-2310)aTg>aCg p.M770T PCDHA4_ENST00000356878.4_Missense_Mutation_p.M770T|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Missense_Mutation_p.M770T|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron NM_018907.2 NP_061730.1 p.M770T(4) breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 78 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ACCGACCTCATGGCCTTCAGC 0.562000 48 133 0 0 1 0 0 AKR1B10 57016 broad.mit.edu 37 7 134216719 134216719 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:134216719G>A ENST00000359579.4 + 3 614 c.294G>A c.(292-294)aaG>aaA p.K98K AKR1B10_ENST00000475559.1_3'UTR NM_020299.4 NP_064695.3 O60218 AK1BA_HUMAN aldo-keto reductase family 1, member B10 (aldose reductase) 98 cellular aldehyde metabolic process|digestion|steroid metabolic process cytoplasm aldo-keto reductase (NADP) activity|protein binding NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(9)|skin(5) 20 AGACCCTCAAGGACCTGAAGC 0.463000 66 223 0 0 1 0 0 DNAH5 1767 broad.mit.edu 37 5 13766085 13766085 + Splice_Site SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:13766085C>T ENST00000265104.4 - 59 10205 c.10101_splice c.e59+1 p.Q3367_splice DNAH5_ENST00000504001.3_Intron NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 3367 Stalk (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) AACTACCAACCTGTAAGTTCT 0.408000 Kartagener syndrome 13 115 0 0 1 0 0 SLC8A1 6546 broad.mit.edu 37 2 40366709 40366709 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:40366709G>A ENST00000406785.1 - 7 2458 c.2269C>T c.(2269-2271)Ccc>Tcc p.P757S SLC8A1-AS1_ENST00000593878.1_RNA|SLC8A1-AS1_ENST00000597170.1_RNA|SLC8A1-AS1_ENST00000598247.1_RNA|SLC8A1_ENST00000542756.1_Missense_Mutation_p.P788S|SLC8A1-AS1_ENST00000599740.1_RNA|SLC8A1_ENST00000403092.1_Missense_Mutation_p.P793S|SLC8A1_ENST00000402441.1_Missense_Mutation_p.P757S|SLC8A1-AS1_ENST00000601679.1_RNA|SLC8A1-AS1_ENST00000435515.1_RNA|SLC8A1_ENST00000332839.4_Missense_Mutation_p.P793S|SLC8A1-AS1_ENST00000597385.1_RNA|SLC8A1_ENST00000405269.1_Missense_Mutation_p.P757S|SLC8A1_ENST00000405901.3_Missense_Mutation_p.P788S|SLC8A1-AS1_ENST00000596532.1_RNA|SLC8A1-AS1_ENST00000599956.1_RNA|SLC8A1-AS1_ENST00000444629.1_RNA|SLC8A1_ENST00000406391.2_Missense_Mutation_p.P757S|SLC8A1-AS1_ENST00000593848.1_RNA|SLC8A1-AS1_ENST00000599268.1_RNA|SLC8A1_ENST00000408028.2_Missense_Mutation_p.P785S|SLC8A1_ENST00000542024.1_Missense_Mutation_p.P757S P32418 NAC1_HUMAN solute carrier family 8 (sodium/calcium exchanger), member 1 793 cell communication|muscle contraction|platelet activation integral to plasma membrane calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2) 100 Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159) TCAGTAGGGGGGACGAAGGCA 0.507000 35 97 0 0 1 0 0 HSD3B1 3283 broad.mit.edu 37 1 120050213 120050213 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:120050213C>T ENST00000235547.6 + 2 259 c.120C>T c.(118-120)gcC>gcT p.A40A HSD3B1_ENST00000528909.1_Silent_p.A38A|HSD3B1_ENST00000369413.3_Silent_p.A38A NM_000862.2 NP_000853.1 P14060 3BHS1_HUMAN hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1 38 androgen biosynthetic process|estrogen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane 3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(18)|ovary(2)|prostate(1)|skin(1) 32 all_neural(166;0.219) all_lung(203;3.16e-06)|Lung NSC(69;2.19e-05)|all_epithelial(167;0.000624) Lung(183;0.0106)|LUSC - Lung squamous cell carcinoma(189;0.0554) NADH(DB00157)|Trilostane(DB01108) TGGACAAGGCCTTCGGACCAG 0.512000 5 130 0 0 1 0 0 DMBT1 1755 broad.mit.edu 37 10 124339393 124339393 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:124339393G>A ENST00000338354.3 + 10 1085 c.979G>A c.(979-981)Gaa>Aaa p.E327K DMBT1_ENST00000368955.3_Missense_Mutation_p.E327K|DMBT1_ENST00000344338.3_Missense_Mutation_p.E327K|DMBT1_ENST00000359586.6_Intron|DMBT1_ENST00000368909.3_Missense_Mutation_p.E327K|DMBT1_ENST00000330163.4_Missense_Mutation_p.E327K|DMBT1_ENST00000368956.2_Missense_Mutation_p.E327K Q9UGM3 DMBT1_HUMAN deleted in malignant brain tumors 1 327 SRCR 2. epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3) 72 all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238) TGGCCATAGTGAAGACGCTGG 0.532000 10 135 0 0 1 0 0 EPG5 57724 broad.mit.edu 37 18 43440125 43440125 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr18:43440125G>A ENST00000282041.5 - 40 6987 c.6953C>T c.(6952-6954)tCc>tTc p.S2318F EPG5_ENST00000585906.1_5'UTR NM_020964.2 NP_066015.2 Q9HCE0 EPG5_HUMAN ectopic P-granules autophagy protein 5 homolog (C. elegans) 2318 autophagy NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 95 GTGGCGGACGGACGCCAGGCT 0.537000 46 86 0 0 1 0 0 EDAR 10913 broad.mit.edu 37 2 109547434 109547434 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:109547434G>A ENST00000409271.1 - 3 480 c.37C>T c.(37-39)Ctc>Ttc p.L13F EDAR_ENST00000258443.2_Missense_Mutation_p.L13F|EDAR_ENST00000376651.1_Missense_Mutation_p.L13F Q9UNE0 EDAR_HUMAN ectodysplasin A receptor 13 apoptosis|cell differentiation integral to membrane protein binding|transmembrane receptor activity NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1) 16 AGGACGGGGAGCCAGGGCGTC 0.597000 37 79 0 0 1 0 0 GOLGA2P9 440518 broad.mit.edu 37 19 22783035 22783035 + RNA SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:22783035G>A ENST00000600260.1 + 0 542 NR_033899.1 ACAAGAGGAGGCTGAGCACCT 0.602000 7 14 0 0 1 0 0 CYFIP1 23191 broad.mit.edu 37 15 22954255 22954255 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr15:22954255G>A ENST00000313077.7 + 14 1530 c.1405G>A c.(1405-1407)Gag>Aag p.E469K CYFIP1_ENST00000560848.1_Missense_Mutation_p.E469K NM_014608.2 NP_055423.1 Q7L576 CYFP1_HUMAN cytoplasmic FMR1 interacting protein 1 469 axon extension|lamellipodium assembly|regulation of cell shape|ruffle organization cell junction|lamellipodium|mRNA cap binding complex|perinuclear region of cytoplasm|ruffle|synapse|synaptosome actin filament binding|Rac GTPase binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(1)|lung(14)|ovary(4)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 40 all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488) all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101) GGGCAGGATGGAGAGCGTGTT 0.622000 11 95 0 0 1 0 0 OR7G3 390883 broad.mit.edu 37 19 9236820 9236820 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:9236820C>T ENST00000305444.2 - 1 806 c.807G>A c.(805-807)agG>agA p.R269R NM_001001958.1 NP_001001958.1 Q8NG95 OR7G3_HUMAN olfactory receptor, family 7, subfamily G, member 3 269 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 15 TTGCACCCTTCCTGGAGGAGT 0.478000 32 85 0 0 1 0 0 TFPI2 7980 broad.mit.edu 37 7 93516737 93516737 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:93516737G>A ENST00000222543.5 - 4 779 c.467C>T c.(466-468)tCa>tTa p.S156L TFPI2_ENST00000545378.1_Intron|GNGT1_ENST00000455502.1_Intron NM_006528.3 NP_006519.1 P48307 TFPI2_HUMAN tissue factor pathway inhibitor 2 156 blood coagulation proteinaceous extracellular matrix extracellular matrix structural constituent|serine-type endopeptidase inhibitor activity endometrium(1)|large_intestine(5)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 14 all_cancers(62;4.45e-10)|all_epithelial(64;2.92e-09)|Lung NSC(181;0.218) STAD - Stomach adenocarcinoma(171;0.000967) GTAGCAAAATGATGGAACTTT 0.323000 33 88 0 0 1 0 0 OR2W3 343171 broad.mit.edu 37 1 248058919 248058919 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:248058919C>T ENST00000537741.1 + 3 288 c.31C>T c.(31-33)Cat>Tat p.H11Y OR2W3_ENST00000360358.3_Missense_Mutation_p.H11Y Q7Z3T1 OR2W3_HUMAN olfactory receptor, family 2, subfamily W, member 3 11 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3) 49 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0319) CACCCAAACCCATTTCATCCT 0.463000 46 66 0 0 1 0 0 CASP4 837 broad.mit.edu 37 11 104825664 104825664 + Silent SNP A A G TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:104825664A>G ENST00000444739.2 - 2 982 c.72T>C c.(70-72)ggT>ggC p.G24G CASP4_ENST00000531333.1_5'UTR|CASP4_ENST00000393150.3_5'UTR NM_001225.3 NP_001216.1 P49662 CASP4_HUMAN caspase 4, apoptosis-related cysteine peptidase 24 CARD. apoptosis|induction of apoptosis|proteolysis intracellular cysteine-type endopeptidase activity|protein binding central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(1)|skin(1)|urinary_tract(2) 23 Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047) BRCA - Breast invasive adenocarcinoma(274;0.000854)|Epithelial(105;0.00879)|all cancers(92;0.0357) TATCCAAAACACCAGTGAGGA 0.393000 52 61 0 0 1 0 0 IL36G 56300 broad.mit.edu 37 2 113736228 113736228 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:113736228C>T ENST00000259205.4 + 2 82 c.13C>T c.(13-15)Cca>Tca p.P5S IL36G_ENST00000376489.2_Missense_Mutation_p.P5S NM_019618.2 NP_062564.1 Q9NZH8 IL36G_HUMAN interleukin 36, gamma 5 cell-cell signaling extracellular space cytokine activity|interleukin-1 receptor antagonist activity breast(1)|central_nervous_system(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|skin(1) 14 GAGAGGCACTCCAGGAGACGC 0.522000 26 52 0 0 1 0 0 UROC1 131669 broad.mit.edu 37 3 126211285 126211285 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:126211285C>T ENST00000290868.2 - 16 1637 c.1584G>A c.(1582-1584)caG>caA p.Q528Q UROC1_ENST00000383579.3_Silent_p.Q588Q NM_144639.2 NP_653240.1 Q96N76 HUTU_HUMAN urocanate hydratase 1 528 histidine catabolic process cytosol urocanate hydratase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(1)|skin(1) 39 GBM - Glioblastoma multiforme(114;0.17) AGGCGATGGCCTGGTTAATGG 0.622000 20 31 0 0 1 0 0 EGFL6 25975 broad.mit.edu 37 X 13636048 13636048 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chrX:13636048G>A ENST00000361306.1 + 8 1235 c.978G>A c.(976-978)ggG>ggA p.G326G EGFL6_ENST00000380602.3_Silent_p.G326G NM_001167890.1|NM_015507.3 NP_001161362.1|NP_056322.2 Q8IUX8 EGFL6_HUMAN EGF-like-domain, multiple 6 326 cell adhesion|cell cycle|cell differentiation|multicellular organismal development basement membrane|extracellular space|membrane calcium ion binding|integrin binding breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(7)|prostate(1)|skin(3) 23 CCAGAGGCGGGAACTCTCATG 0.448000 6 138 0 0 1 0 0 CCDC61 729440 broad.mit.edu 37 19 46511530 46511530 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:46511530G>A ENST00000263284.2 + 6 693 c.693G>A c.(691-693)cgG>cgA p.R231R CCDC61_ENST00000594087.1_Silent_p.R174R|CCDC61_ENST00000536603.1_Silent_p.R174R|CCDC61_ENST00000595358.1_Silent_p.R174R coiled-coil domain containing 61 endometrium(3)|kidney(3)|large_intestine(1)|lung(5)|ovary(1) 13 all_neural(266;0.113)|Ovarian(192;0.127) OV - Ovarian serous cystadenocarcinoma(262;0.00221)|GBM - Glioblastoma multiforme(486;0.0233)|Epithelial(262;0.164) GGGACACCCGGGAGAATGAGA 0.667000 9 11 0 0 1 0 0 WFS1 7466 broad.mit.edu 37 4 6303094 6303094 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:6303094C>T ENST00000226760.1 + 8 1742 c.1572C>T c.(1570-1572)ttC>ttT p.F524F WFS1_ENST00000503569.1_Silent_p.F524F NM_001145853.1|NM_006005.3 NP_001139325.1|NP_005996.2 O76024 WFS1_HUMAN Wolfram syndrome 1 (wolframin) 524 endoplasmic reticulum calcium ion homeostasis|endoplasmic reticulum unfolded protein response|ER overload response|ER-associated protein catabolic process|glucose homeostasis|kidney development|negative regulation of neuron apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|polyubiquitinated misfolded protein transport|positive regulation of calcium ion transport|positive regulation of growth|positive regulation of protein ubiquitination|positive regulation of proteolysis|protein stabilization|renal water homeostasis|sensory perception of sound|visual perception dendrite|integral to endoplasmic reticulum membrane activating transcription factor binding|ATPase binding|transporter activity|ubiquitin protein ligase binding central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1) 21 Colorectal(103;0.0512) TGAGGAATTTCAAGGGCACCT 0.597000 45 109 0 0 1 0 0 KSR2 283455 broad.mit.edu 37 12 117962971 117962971 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:117962971C>T ENST00000425217.1 - 14 1872 c.1818G>A c.(1816-1818)atG>atA p.M606I KSR2_ENST00000339824.5_Missense_Mutation_p.M635I|KSR2_ENST00000302438.5_Missense_Mutation_p.M332I|KSR2_ENST00000545002.1_5'UTR NM_173598.4 NP_775869.3 Q6VAB6 KSR2_HUMAN kinase suppressor of ras 2 635 intracellular signal transduction cytoplasm|membrane ATP binding|metal ion binding|protein serine/threonine kinase activity NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 67 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) GGGACAGGTTCATCTCCTCGA 0.587000 6 55 0 0 1 0 0 GAA 2548 broad.mit.edu 37 17 78078818 78078818 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:78078818G>A ENST00000302262.3 + 2 652 c.433G>A c.(433-435)Gaa>Aaa p.E145K GAA_ENST00000390015.3_Missense_Mutation_p.E145K NM_000152.3 NP_000143.2 P10253 LYAG_HUMAN glucosidase, alpha; acid 145 cardiac muscle contraction|diaphragm contraction|glycogen catabolic process|lysosome organization|tongue morphogenesis|vacuolar sequestering|ventricular cardiac muscle tissue morphogenesis lysosomal membrane carbohydrate binding|maltose alpha-glucosidase activity autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 21 all_neural(118;0.117) OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139) Acarbose(DB00284) GAGCTCCTCTGAAATGGGCTA 0.627000 26 75 0 0 1 0 0 SRRM2 23524 broad.mit.edu 37 16 2813494 2813494 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr16:2813494C>T ENST00000301740.8 + 11 3514 c.2965C>T c.(2965-2967)Cac>Tac p.H989Y NM_016333.3 NP_057417.3 Q9UQ35 SRRM2_HUMAN serine/arginine repetitive matrix 2 989 Ser-rich. Cajal body|catalytic step 2 spliceosome|nuclear speck C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7) 105 AAGACAAAGTCACTCAGGGTC 0.483000 92 221 0 0 1 0 0 HTR3C 170572 broad.mit.edu 37 3 183778125 183778125 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:183778125C>T ENST00000318351.1 + 9 1363 c.1329C>T c.(1327-1329)gtC>gtT p.V443V NM_130770.2 NP_570126.2 Q8WXA8 5HT3C_HUMAN 5-hydroxytryptamine (serotonin) receptor 3C, ionotropic 443 integral to membrane|plasma membrane|postsynaptic membrane extracellular ligand-gated ion channel activity|receptor activity central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(2) 32 all_cancers(143;2.33e-10)|Ovarian(172;0.0303) Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22) CTGTCATTGTCCTCTGGAACA 0.552000 7 273 0 0 1 0 0 ZNF765 91661 broad.mit.edu 37 19 53905374 53905374 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:53905374C>T ENST00000396408.3 + 3 189 c.72C>T c.(70-72)tgC>tgT p.C24C ZNF765_ENST00000594030.1_Silent_p.C24C NM_001040185.1 NP_001035275.1 Q7L2R6 ZN765_HUMAN zinc finger protein 765 24 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|lung(3) 4 GBM - Glioblastoma multiforme(134;0.00379) AGTGGAAATGCCTGGACCCTG 0.488000 20 147 0 0 1 0 0 FKBP15 23307 broad.mit.edu 37 9 115950708 115950708 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:115950708G>A ENST00000238256.3 - 13 1354 c.1237C>T c.(1237-1239)Cat>Tat p.H413Y NM_015258.1 NP_056073.1 Q5T1M5 FKB15_HUMAN FK506 binding protein 15, 133kDa 413 H -> Q (in dbSNP:rs10435864). endocytosis|protein folding axon|early endosome actin binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(9)|ovary(3)|urinary_tract(1) 26 TGGGCCGGATGAAGAGAGGGC 0.547000 9 84 0 0 1 0 0 ZBP1 81030 broad.mit.edu 37 20 56191403 56191403 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr20:56191403C>T ENST00000340462.4 - 2 436 c.156G>A c.(154-156)atG>atA p.M52I ZBP1_ENST00000538947.1_5'UTR|ZBP1_ENST00000371173.3_Missense_Mutation_p.M52I|ZBP1_ENST00000541799.1_Missense_Mutation_p.M52I|ZBP1_ENST00000343535.4_Missense_Mutation_p.M52I|ZBP1_ENST00000395822.3_Intron Q9H171 ZBP1_HUMAN Z-DNA binding protein 1 52 cytoplasm|nucleus double-stranded RNA adenosine deaminase activity|left-handed Z-DNA binding|RNA binding large_intestine(11)|lung(8)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1) 27 Lung NSC(12;0.000545)|all_lung(29;0.00195)|Melanoma(10;0.242) BRCA - Breast invasive adenocarcinoma(13;7.87e-13)|Epithelial(14;3.26e-09)|all cancers(14;3.62e-08) ACTCCTTTTTCATTCGGTAGA 0.592000 72 160 0 0 1 0 0 PIPSL 266971 broad.mit.edu 37 10 95718663 95718663 + RNA SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:95718663C>T ENST00000480546.1 - 0 2634 NR_002319.2 TTGTTGGGATCCACACCTGGG 0.537000 38 66 0 0 1 0 0 PCLO 27445 broad.mit.edu 37 7 82579113 82579113 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:82579113C>T ENST00000423517.2 - 6 11128 c.10791G>A c.(10789-10791)gaG>gaA p.E3597E PCLO_ENST00000333891.8_Silent_p.E3597E|PCLO_ENST00000437081.1_Silent_p.E317E NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 3528 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 AATAACCAATCTCTAAAGGTG 0.478000 27 94 0 0 1 0 0 NLRP3 114548 broad.mit.edu 37 1 247587795 247587795 + Silent SNP G G A rs143140947 TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:247587795G>A ENST00000366497.2 + 4 1830 c.1050G>A c.(1048-1050)acG>acA p.T350T NLRP3_ENST00000391827.2_Silent_p.T350T|NLRP3_ENST00000366496.2_Silent_p.T350T|NLRP3_ENST00000336119.3_Silent_p.T350T|NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000348069.2_Silent_p.T350T|NLRP3_ENST00000391828.3_Silent_p.T350T NM_001127461.2 NP_001120933.1 Q96P20 NALP3_HUMAN NLR family, pyrin domain containing 3 350 NACHT. T -> M (in MWS and CINCA). detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction cytoplasm ATP binding|peptidoglycan binding|protein binding NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 142 all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.0172) OV - Ovarian serous cystadenocarcinoma(106;0.0141) TCATCACCACGAGACCTGTGG 0.572000 84 89 0 0 1 0 0 FRY 10129 broad.mit.edu 37 13 32798472 32798472 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr13:32798472C>T ENST00000380250.3 + 37 5362 c.4866C>T c.(4864-4866)ccC>ccT p.P1622P NM_023037.2 NP_075463.2 Q5TBA9 FRY_HUMAN furry homolog (Drosophila) 1622 regulation of transcription, DNA-dependent|transcription, DNA-dependent integral to membrane NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 132 Lung SC(185;0.0271) all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104) GCTGGGCCCCCCTGGTTGACT 0.557000 7 86 0 0 1 0 0 DSG1 1828 broad.mit.edu 37 18 28935119 28935119 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr18:28935119G>A ENST00000257192.4 + 15 3172 c.2960G>A c.(2959-2961)gGg>gAg p.G987E RP11-534N16.1_ENST00000578477.1_RNA|RP11-534N16.1_ENST00000581452.1_RNA|RP11-534N16.1_ENST00000581856.1_RNA|DSG1_ENST00000462981.2_Missense_Mutation_p.G346E NM_001942.2 NP_001933.2 Q02413 DSG1_HUMAN desmoglein 1 987 Gly/Ser-rich. calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization cytosol|desmosome|integral to membrane|internal side of plasma membrane calcium ion binding|gamma-catenin binding|toxin binding NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1) 76 OV - Ovarian serous cystadenocarcinoma(10;0.00559) ATGGGTGCTGGGAGCGGTGCC 0.602000 33 87 0 0 1 0 0 ITPR2 3709 broad.mit.edu 37 12 26784856 26784856 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:26784856G>A ENST00000381340.3 - 22 3293 c.2877C>T c.(2875-2877)acC>acT p.T959T RP11-666F17.1_ENST00000414098.2_RNA NM_002223.2 NP_002214.2 Q14571 ITPR2_HUMAN inositol 1,4,5-trisphosphate receptor, type 2 959 activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity ETV6/ITPR2(2) biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 125 Colorectal(261;0.0847) CCTCGTGCTCGGTGGGGCTCC 0.522000 5 180 0 0 1 0 0 WIF1 11197 broad.mit.edu 37 12 65471608 65471608 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:65471608G>A ENST00000286574.4 - 3 689 c.315C>T c.(313-315)tcC>tcT p.S105S NM_007191.4 NP_009122.2 Q9Y5W5 WIF1_HUMAN WNT inhibitory factor 1 105 WIF. multicellular organismal development|Wnt receptor signaling pathway extracellular region protein tyrosine kinase activity cervix(1)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1) 21 LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975) GBM - Glioblastoma multiforme(28;0.0231) GGGAGCGCAAGGACAGGAATT 0.507000 T HMGA2 pleomorphic salivary gland adenoma 8 35 0 0 1 0 0 DNAH3 55567 broad.mit.edu 37 16 20996974 20996974 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr16:20996974C>T ENST00000261383.3 - 48 7089 c.7090G>A c.(7090-7092)Gga>Aga p.G2364R DNAH3_ENST00000415178.1_3'UTR NM_017539.1 NP_060009.1 Q8TD57 DYH3_HUMAN dynein, axonemal, heavy chain 3 2364 ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6) 202 GBM - Glioblastoma multiforme(48;0.207) AAATAATCTCCAAAGAAGAGG 0.428000 61 112 0 0 1 0 0 CPT1A 1374 broad.mit.edu 37 11 68529005 68529005 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:68529005C>T ENST00000265641.5 - 16 2180 c.2026G>A c.(2026-2028)Gaa>Aaa p.E676K CPT1A_ENST00000540367.1_Missense_Mutation_p.E676K|CPT1A_ENST00000539743.1_Missense_Mutation_p.E676K|CPT1A_ENST00000376618.2_Missense_Mutation_p.E676K NM_001876.3 NP_001867.2 P50416 CPT1A_HUMAN carnitine palmitoyltransferase 1A (liver) 676 carnitine shuttle|fatty acid beta-oxidation integral to membrane|mitochondrial outer membrane carnitine O-palmitoyltransferase activity NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 Esophageal squamous(3;3.28e-14) LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142) L-Carnitine(DB00583)|Perhexiline(DB01074) AGACTTACTTCCTTAAGGAAA 0.448000 73 90 0 0 1 0 0 COL1A2 1278 broad.mit.edu 37 7 94053712 94053712 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:94053712G>A ENST00000297268.6 + 41 3101 c.2630G>A c.(2629-2631)gGc>gAc p.G877D NM_000089.3 NP_000080.2 P08123 CO1A2_HUMAN collagen, type I, alpha 2 877 G -> C (in OI2A). axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway collagen type I|extracellular space|plasma membrane extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging COL1A2/PLAG1(3) NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 115 all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08) STAD - Stomach adenocarcinoma(171;0.0031) Collagenase(DB00048) GGTCTCCCTGGCTCGAGAGGT 0.473000 HNSCC(75;0.22) 6 228 0 0 1 0 0 IGDCC4 57722 broad.mit.edu 37 15 65676464 65676464 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr15:65676464G>A ENST00000352385.2 - 20 3845 c.3636C>T c.(3634-3636)gaC>gaT p.D1212D IGDCC4_ENST00000558048.1_5'UTR NM_020962.1 NP_066013.1 Q8TDY8 IGDC4_HUMAN immunoglobulin superfamily, DCC subclass, member 4 1212 integral to membrane|plasma membrane NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3) 44 CTGGCTGGAGGTCCGGGTAGG 0.667000 15 33 0 0 1 0 0 TFE3 7030 broad.mit.edu 37 X 48888941 48888941 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chrX:48888941C>T ENST00000315869.7 - 9 1514 c.1255G>A c.(1255-1257)Gcc>Acc p.A419T TFE3_ENST00000493583.1_5'UTR NM_006521.4 NP_006512.2 P19532 TFE3_HUMAN transcription factor binding to IGHM enhancer 3 419 Leucine-zipper. humoral immune response|positive regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding NONO/TFE3(2)|PRCC/TFE3(25)|SFPQ/TFE3(6)|CLTC/TFE3(2)|ASPSCR1/TFE3(167) central_nervous_system(1) 1 CTGCGGTTGGCCTGCTCCAGG 0.602000 T """SFPQ, ASPSCR1, PRCC, NONO, CLTC""" """papillary renal, alveolar soft part sarcoma, renal""" 10 2 0 0 1 0 0 PCDHGA4 56111 broad.mit.edu 37 5 140734971 140734971 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:140734971C>T ENST00000571252.1 + 1 204 c.204C>T c.(202-204)tcC>tcT p.S68S PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron NM_018917.2 NP_061740.1 endometrium(1)|kidney(1)|lung(3) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCATCGTCTCCAGAGGTAGGA 0.637000 56 132 0 0 1 0 0 OR2T4 127074 broad.mit.edu 37 1 248525007 248525007 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:248525007C>T ENST00000366475.1 + 1 125 c.125C>T c.(124-126)tCg>tTg p.S42L NM_001004696.1 NP_001004696.1 Q8NH00 OR2T4_HUMAN olfactory receptor, family 2, subfamily T, member 4 42 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47) 56 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) ACTGGATGGTCGGATTTCATC 0.473000 4 149 0 0 1 0 0 UBIAD1 29914 broad.mit.edu 37 1 11346026 11346026 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:11346026C>T ENST00000376810.5 + 2 1181 c.855C>T c.(853-855)ctC>ctT p.L285L UBIAD1_ENST00000376804.2_Intron NM_013319.2 NP_037451.1 Q9Y5Z9 UBIA1_HUMAN UbiA prenyltransferase domain containing 1 285 menaquinone biosynthetic process endoplasmic reticulum membrane|integral to membrane|mitochondrion|nucleus prenyltransferase activity endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(3) 12 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.000818)|all_lung(284;0.00105)|Colorectal(325;0.0062)|Breast(348;0.012)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.52e-06)|COAD - Colon adenocarcinoma(227;0.000254)|BRCA - Breast invasive adenocarcinoma(304;0.000299)|Kidney(185;0.000754)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0487) GCCTGGCACTCCCCCTGCTTA 0.572000 20 279 0 0 1 0 0 ASIC2 40 broad.mit.edu 37 17 31416006 31416006 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:31416006C>T ENST00000225823.2 - 3 1734 c.862G>A c.(862-864)Gaa>Aaa p.E288K ASIC2_ENST00000359872.6_Missense_Mutation_p.E237K|ASIC2_ENST00000448983.1_5'UTR NM_183377.1 NP_899233.1 Q16515 ACCN1_HUMAN acid-sensing (proton-gated) ion channel 2 237 central nervous system development|peripheral nervous system development|synaptic transmission integral to plasma membrane ligand-gated sodium channel activity|protein binding Amiloride(DB00594) AATGTCGTTTCCTCTGAAAGA 0.502000 25 60 0 0 1 0 0 BAGE2 85319 broad.mit.edu 37 21 11038949 11038949 + RNA SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr21:11038949G>A ENST00000470054.1 - 0 1254 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) TGCTGATAATGAAAATGATGA 0.423000 34 833 0 0 1 0 0 ABCG1 9619 broad.mit.edu 37 21 43706016 43706016 + Nonsense_Mutation SNP T T A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr21:43706016T>A ENST00000398437.1 + 9 1471 c.1323T>A c.(1321-1323)tgT>tgA p.C441* ABCG1_ENST00000343687.3_Nonsense_Mutation_p.C306*|ABCG1_ENST00000398449.3_Nonsense_Mutation_p.C295*|ABCG1_ENST00000398457.2_Nonsense_Mutation_p.C297*|ABCG1_ENST00000361802.2_Nonsense_Mutation_p.C295*|ABCG1_ENST00000340588.4_Nonsense_Mutation_p.C403*|ABCG1_ENST00000347800.2_Nonsense_Mutation_p.C292*|ABCG1_ENST00000462050.1_3'UTR P45844 ABCG1_HUMAN ATP-binding cassette, sub-family G (WHITE), member 1 295 ABC transmembrane type-2. amyloid precursor protein catabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|detection of hormone stimulus|high-density lipoprotein particle remodeling|intracellular cholesterol transport|lipoprotein metabolic process|low-density lipoprotein particle remodeling|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|positive regulation of cholesterol biosynthetic process|regulation of cholesterol esterification|regulation of transcription, DNA-dependent|response to lipid|reverse cholesterol transport endoplasmic reticulum membrane|external side of plasma membrane|Golgi membrane|recycling endosome ADP binding|ATP binding|cholesterol transporter activity|glycoprotein transporter activity|phospholipid transporter activity|protein heterodimerization activity|protein homodimerization activity|sterol-transporting ATPase activity|toxin transporter activity breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(3)|prostate(2)|stomach(1) 29 Adenosine triphosphate(DB00171) AAGGACAATGTGTGTACCGGG 0.498000 98 254 0 0 1 0 0 CSMD1 64478 broad.mit.edu 37 8 3226833 3226833 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:3226833C>T ENST00000602557.1 - 20 3400 c.2845G>A c.(2845-2847)Gat>Aat p.D949N CSMD1_ENST00000602723.1_Missense_Mutation_p.D949N|CSMD1_ENST00000537824.1_Missense_Mutation_p.D948N|CSMD1_ENST00000400186.3_Missense_Mutation_p.D949N|CSMD1_ENST00000539096.1_Missense_Mutation_p.D948N|CSMD1_ENST00000542608.1_Missense_Mutation_p.D948N|CSMD1_ENST00000520002.1_Missense_Mutation_p.D949N Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 949 CUB 6. integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) GGATAAAAATCTGGAAACCCA 0.388000 15 24 0 0 1 0 0 FOXK2 3607 broad.mit.edu 37 17 80529642 80529642 + Nonsense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:80529642C>T ENST00000335255.5 + 4 979 c.805C>T c.(805-807)Cag>Tag p.Q269* NM_004514.3 NP_004505.2 Q01167 FOXK2_HUMAN forkhead box K2 269 embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|tissue development transcription factor complex DNA bending activity|double-stranded DNA binding|magnesium ion binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|urinary_tract(1) 17 Breast(20;0.00106)|all_neural(118;0.0952) OV - Ovarian serous cystadenocarcinoma(97;0.0371)|BRCA - Breast invasive adenocarcinoma(99;0.0415) GCTGATAGTTCAGGCGATTAC 0.413000 37 90 0 0 1 0 0 MMS22L 253714 broad.mit.edu 37 6 97629830 97629830 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:97629830G>A ENST00000275053.4 - 16 2599 c.2334C>T c.(2332-2334)atC>atT p.I778I MMS22L_ENST00000369251.2_Silent_p.I738I NM_198468.2 NP_940870.2 Q6ZRQ5 MMS22_HUMAN MMS22-like, DNA repair protein 778 double-strand break repair via homologous recombination|replication fork processing nuclear replication fork protein binding breast(1)|endometrium(9)|kidney(2)|large_intestine(12)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 50 GAGGGCAGATGATATCATCCC 0.383000 61 138 0 0 1 0 0 SORCS1 114815 broad.mit.edu 37 10 108380188 108380188 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:108380188C>T ENST00000263054.6 - 20 2801 c.2794G>A c.(2794-2796)Gag>Aag p.E932K SORCS1_ENST00000369698.1_Missense_Mutation_p.E467K|SORCS1_ENST00000344440.6_Missense_Mutation_p.E932K NM_001206570.1|NM_052918.4 NP_001193499.1|NP_443150.3 Q8WY21 SORC1_HUMAN sortilin-related VPS10 domain containing receptor 1 932 integral to membrane neuropeptide receptor activity|protein binding breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 127 Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168) Epithelial(162;1.66e-05)|all cancers(201;0.000689) GAACCCACCTCCGTGTTGTTT 0.522000 49 108 0 0 1 0 0 CR2 1380 broad.mit.edu 37 1 207646239 207646239 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:207646239G>A ENST00000367057.3 + 10 1882 c.1693G>A c.(1693-1695)Gaa>Aaa p.E565K CR2_ENST00000367058.3_Missense_Mutation_p.E565K|CR2_ENST00000458541.2_Missense_Mutation_p.E538K|CR2_ENST00000367059.3_Missense_Mutation_p.E565K NM_001006658.2 NP_001006659.1 P20023 CR2_HUMAN complement component (3d/Epstein Barr virus) receptor 2 565 Sushi 9. complement activation, classical pathway|innate immune response integral to membrane|plasma membrane complement receptor activity|protein homodimerization activity NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1) 69 AAGAGGAGTGGAATTCAGCCT 0.498000 65 57 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179582444 179582444 + Nonsense_Mutation SNP G G C TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:179582444G>C ENST00000589042.1 - 87 25381 c.25157C>G c.(25156-25158)tCa>tGa p.S8386* TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Nonsense_Mutation_p.S8069*|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Nonsense_Mutation_p.S7142*|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 8069 Ig-like 66. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) AAGAGGTTCTGAGCCATTGAT 0.413000 8 31 0 0 1 0 0 MFNG 4242 broad.mit.edu 37 22 37882171 37882171 + Silent SNP G G A rs77701703 byFrequency TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr22:37882171G>A ENST00000356998.3 - 1 268 c.45C>T c.(43-45)acC>acT p.T15T MFNG_ENST00000416983.3_Silent_p.T15T NM_002405.3 NP_002396.2 O00587 MFNG_HUMAN MFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase 15 pattern specification process extracellular space|integral to Golgi membrane O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity large_intestine(2)|lung(2)|skin(1) 5 Melanoma(58;0.0574) TGCACAGGAGGGTGAGGAGGG 0.692000 23 48 0 0 1 0 0 LRIT1 26103 broad.mit.edu 37 10 85991857 85991857 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:85991857C>T ENST00000372105.3 - 4 1719 c.1698G>A c.(1696-1698)gaG>gaA p.E566E NM_015613.2 NP_056428.1 Q9P2V4 LRIT1_HUMAN leucine-rich repeat, immunoglobulin-like and transmembrane domains 1 566 integral to endoplasmic reticulum membrane breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|skin(1) 23 TAACTGTGGCCTCAGTGGAGT 0.582000 14 59 0 0 1 0 0 PPFIA2 8499 broad.mit.edu 37 12 81734926 81734926 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:81734926G>A ENST00000550584.2 - 19 2619 c.2324C>T c.(2323-2325)cCt>cTt p.P775L PPFIA2_ENST00000548586.1_Missense_Mutation_p.P775L|PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000407050.4_Missense_Mutation_p.P701L|PPFIA2_ENST00000549325.1_Missense_Mutation_p.P757L|PPFIA2_ENST00000550359.2_Missense_Mutation_p.P622L|PPFIA2_ENST00000541017.1_5'UTR|PPFIA2_ENST00000552948.1_Missense_Mutation_p.P775L|PPFIA2_ENST00000549396.1_Missense_Mutation_p.P775L|PPFIA2_ENST00000443686.3_Missense_Mutation_p.P676L|PPFIA2_ENST00000333447.7_Missense_Mutation_p.P757L|PPFIA2_ENST00000541570.2_Missense_Mutation_p.P342L NM_001220473.1 NP_001207402.1 B7Z663 B7Z663_HUMAN protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2 701 p.P777_T778insP(1) NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5) 85 GGTAGGAGGAGGAGAAGTTTC 0.438000 5 70 0 0 1 0 0 ZNF17 7565 broad.mit.edu 37 19 57932838 57932838 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:57932838C>T ENST00000307658.7 + 4 2247 c.1984C>T c.(1984-1986)Cac>Tac p.H662Y ZNF17_ENST00000601808.1_Missense_Mutation_p.H660Y|AC004076.7_ENST00000597410.1_Intron P17021 ZNF17_HUMAN zinc finger protein 17 660 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.0234)|GBM - Glioblastoma multiforme(193;0.000426)|Lung(386;0.176) CCAGAAAGTTCACACCAGATA 0.373000 4 60 0 0 1 0 0 ALK 238 broad.mit.edu 37 2 29917846 29917846 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:29917846C>T ENST00000389048.3 - 3 1728 c.822G>A c.(820-822)ctG>ctA p.L274L ALK_ENST00000431873.1_Intron NM_004304.4 NP_004295.2 Q9UM73 ALK_HUMAN anaplastic lymphoma receptor tyrosine kinase 274 MAM 1. protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9) NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2) 340 Acute lymphoblastic leukemia(172;0.155) Adenosine triphosphate(DB00171) GGGAATACTCCAGCTCACAGG 0.567000 """T, Mis, A""" """NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22""" """ALCL, NSCLC, Neuroblastoma""" neuroblastoma Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome 52 123 0 0 1 0 0 MYH4 4622 broad.mit.edu 37 17 10368838 10368838 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:10368838G>A ENST00000255381.2 - 5 536 c.426C>T c.(424-426)gcC>gcT p.A142A CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA NM_017533.2 NP_060003.2 Q9Y623 MYH4_HUMAN myosin, heavy chain 4, skeletal muscle 142 Myosin head-like. muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 149 TGCCTCGGTAGGCTGTCACCA 0.542000 96 158 0 0 1 0 0 AOAH 313 broad.mit.edu 37 7 36588291 36588291 + Splice_Site SNP A A G TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:36588291A>G ENST00000431169.1 - 15 1360 c.1058_splice c.e15-1 p.L354_splice AOAH_ENST00000491444.1_5'UTR|AOAH_ENST00000258749.5_Splice_Site_p.L354_splice|AOAH_ENST00000538464.1_Splice_Site_p.L76_splice|AOAH_ENST00000535891.1_Splice_Site_p.L322_splice NM_001177506.1 NP_001170977.1 P28039 AOAH_HUMAN acyloxyacyl hydrolase (neutrophil) 354 inflammatory response|lipid metabolic process extracellular region acyloxyacyl hydrolase activity|lipoprotein lipase activity NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(21)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3) 41 TTTCTAGACAAGCTGAGAAGG 0.418000 18 76 0 0 1 0 0 TREML4 285852 broad.mit.edu 37 6 41196752 41196752 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:41196752C>T ENST00000341495.2 + 2 468 c.364C>T c.(364-366)Ctt>Ttt p.L122F TREML4_ENST00000448827.2_Missense_Mutation_p.L122F NM_198153.2 NP_937796.1 Q6UXN2 TRML4_HUMAN triggering receptor expressed on myeloid cells-like 4 122 Ig-like V-type. extracellular region breast(1)|endometrium(1)|large_intestine(1)|lung(4)|skin(1) 8 Ovarian(28;0.0327)|Colorectal(47;0.196) CATCACTGTTCTTAGAAATAT 0.488000 30 138 0 0 1 0 0 RNASEL 6041 broad.mit.edu 37 1 182555513 182555513 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:182555513G>A ENST00000367559.3 - 2 682 c.429C>T c.(427-429)ttC>ttT p.F143F RNASEL_ENST00000444138.1_Silent_p.F143F|RNASEL_ENST00000539397.1_Silent_p.F143F NM_021133.3 NP_066956.1 Q05823 RN5A_HUMAN ribonuclease L (2',5'-oligoisoadenylate synthetase-dependent) 143 mRNA processing|response to virus|type I interferon-mediated signaling pathway mitochondrion ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|metal ion binding|protein kinase activity|RNA binding NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(1) 27 TCTTATAAAGGAATTTTAGGG 0.463000 22 70 0 0 1 0 0 GRB7 2886 broad.mit.edu 37 17 37901571 37901571 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:37901571C>T ENST00000309156.4 + 10 1344 c.1087C>T c.(1087-1089)Ccc>Tcc p.P363S GRB7_ENST00000394209.2_Missense_Mutation_p.P363S|GRB7_ENST00000445327.2_Missense_Mutation_p.P386S|GRB7_ENST00000309185.3_Missense_Mutation_p.P363S|GRB7_ENST00000394211.3_Missense_Mutation_p.P363S|GRB7_ENST00000394204.1_Missense_Mutation_p.P363S NM_005310.3 NP_005301.2 Q14451 GRB7_HUMAN growth factor receptor-bound protein 7 363 blood coagulation|epidermal growth factor receptor signaling pathway|leukocyte migration|negative regulation of translation|positive regulation of cell migration|stress granule assembly cytosol|focal adhesion|stress granule phosphatidylinositol binding|protein kinase binding|SH3/SH2 adaptor activity breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 18 all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052) UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;6.86e-60)|all cancers(3;1.65e-53)|BRCA - Breast invasive adenocarcinoma(8;2.03e-43)|STAD - Stomach adenocarcinoma(3;1.43e-12)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171) GGGCTCCCCACCCTTGGTGAG 0.592000 32 60 0 0 1 0 0 MTUS1 57509 broad.mit.edu 37 8 17611419 17611419 + Missense_Mutation SNP A A C TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:17611419A>C ENST00000381869.3 - 2 2371 c.1898T>G c.(1897-1899)tTg>tGg p.L633W MTUS1_ENST00000381862.3_Missense_Mutation_p.L633W|MTUS1_ENST00000262102.6_Missense_Mutation_p.L633W|MTUS1_ENST00000519263.1_Missense_Mutation_p.L633W NM_001001925.2 NP_001001925.1 Q9ULD2 MTUS1_HUMAN microtubule associated tumor suppressor 1 633 Golgi apparatus|microtubule|microtubule organizing center|mitochondrion|nucleus|plasma membrane|spindle breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(14)|lung(8)|ovary(1)|skin(2)|urinary_tract(1) 36 Colorectal(111;0.0778) CTTCTGAAACAACGCAGAAAC 0.438000 7 135 0 0 1 0 0 NPFFR2 10886 broad.mit.edu 37 4 73012887 73012887 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:73012887G>A ENST00000308744.6 + 4 1025 c.927G>A c.(925-927)cgG>cgA p.R309R NPFFR2_ENST00000358749.3_Silent_p.R207R|NPFFR2_ENST00000395999.1_Silent_p.R210R|NPFFR2_ENST00000506359.1_3'UTR|NPFFR2_ENST00000344413.5_3'UTR NM_004885.2 NP_004876.2 Q9Y5X5 NPFF2_HUMAN neuropeptide FF receptor 2 309 detection of abiotic stimulus actin cytoskeleton|integral to plasma membrane neuropeptide receptor activity NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(24)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 43 Lung(101;0.0935)|LUSC - Lung squamous cell carcinoma(112;0.138) ACTGGTGCCGGGAAGACTGGC 0.453000 34 67 0 0 1 0 0 WNK4 65266 broad.mit.edu 37 17 40947081 40947081 + Nonsense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:40947081G>A ENST00000246914.5 + 14 2663 c.2642G>A c.(2641-2643)tGg>tAg p.W881* NM_032387.4 NP_115763.2 Q96J92 WNK4_HUMAN WNK lysine deficient protein kinase 4 881 intracellular protein kinase cascade tight junction ATP binding|protein serine/threonine kinase activity NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1) 35 Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.0749) CAGTGTCCCTGGAGTTCTCTC 0.567000 6 203 0 0 1 0 0 SORL1 6653 broad.mit.edu 37 11 121424683 121424683 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:121424683C>T ENST00000260197.7 + 17 2433 c.2304C>T c.(2302-2304)tcC>tcT p.S768S NM_003105.5 NP_003096.1 Q92673 SORL_HUMAN sortilin-related receptor, L(DLR class) A repeats containing 768 cholesterol metabolic process|lipid transport|receptor-mediated endocytosis integral to plasma membrane|low-density lipoprotein particle low-density lipoprotein particle binding|transmembrane receptor activity NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2) 91 Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113) BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108) TGAGGAAATCCATCTACCGCT 0.562000 16 182 0 0 1 0 0 TRPC7 57113 broad.mit.edu 37 5 135601998 135601998 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:135601998C>T ENST00000513104.1 - 5 1537 c.1255G>A c.(1255-1257)Gaa>Aaa p.E419K TRPC7_ENST00000355180.3_Missense_Mutation_p.E358K|TRPC7_ENST00000426057.2_Missense_Mutation_p.E303K NM_020389.2 NP_065122.1 Q9HCX4 TRPC7_HUMAN transient receptor potential cation channel, subfamily C, member 7 419 axon guidance|platelet activation integral to membrane|plasma membrane calcium channel activity|protein binding NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3) 46 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) GTGAAGGTTTCGTTTGGCAGG 0.398000 54 103 0 0 1 0 0 DNAH17 8632 broad.mit.edu 37 17 76511087 76511087 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:76511087C>T ENST00000389840.5 - 26 3994 c.3870G>A c.(3868-3870)gaG>gaA p.E1290E DNAH17_ENST00000585328.1_Silent_p.E1291E dynein, axonemal, heavy chain 17 NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 116 BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656) TCTTCCAGTCCTCGATGCTGG 0.438000 19 76 0 0 1 0 0 ADCK5 203054 broad.mit.edu 37 8 145608358 145608358 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:145608358C>T ENST00000308860.6 + 3 237 c.193C>T c.(193-195)Cgc>Tgc p.R65C ADCK5_ENST00000526231.2_3'UTR|ADCK5_ENST00000532190.1_Missense_Mutation_p.R65C NM_174922.3 NP_777582.3 Q3MIX3 ADCK5_HUMAN aarF domain containing kinase 5 65 integral to membrane protein serine/threonine kinase activity endometrium(1)|lung(2)|prostate(2)|skin(1)|stomach(2) 8 all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;8.96e-41)|Epithelial(56;4.08e-40)|all cancers(56;4.51e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055) CCTCGGAGCCCGCTATGTCAT 0.677000 7 10 0 0 1 0 0 GHSR 2693 broad.mit.edu 37 3 172163163 172163163 + Missense_Mutation SNP T T A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:172163163T>A ENST00000241256.2 - 2 931 c.889A>T c.(889-891)Att>Ttt p.I297F NM_198407.2 NP_940799.1 Q92847 GHSR_HUMAN growth hormone secretagogue receptor 297 actin polymerization or depolymerization|adult feeding behavior|decidualization|growth hormone secretion|hormone-mediated signaling pathway|negative regulation of inflammatory response|negative regulation of interleukin-1 beta production|negative regulation of interleukin-6 biosynthetic process|negative regulation of tumor necrosis factor biosynthetic process|positive regulation of appetite|positive regulation of multicellular organism growth cell surface|integral to membrane|membrane raft|neuron projection|plasma membrane growth hormone secretagogue receptor activity|growth hormone-releasing hormone receptor activity biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1) 33 Ovarian(172;0.00143)|Breast(254;0.197) Lung(28;3.93e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235) ATCTGAGCAATCTCCAAGGAG 0.488000 5 101 0 0 1 0 0 PAPPA2 60676 broad.mit.edu 37 1 176708828 176708828 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:176708828C>T ENST00000367662.3 + 13 5029 c.3865C>T c.(3865-3867)Ccc>Tcc p.P1289S NM_020318.2 NP_064714.2 Q9BXP8 PAPP2_HUMAN pappalysin 2 1289 cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1) 226 TGGCCTAGTTCCCGGAGAGCA 0.448000 53 63 0 0 1 0 0 SLCO2B1 11309 broad.mit.edu 37 11 74862437 74862437 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:74862437G>A ENST00000289575.5 + 1 406 c.11G>A c.(10-12)aGg>aAg p.R4K SLCO2B1_ENST00000532236.1_5'UTR|SLCO2B1_ENST00000531756.1_Missense_Mutation_p.R4K|SLCO2B1_ENST00000526660.1_Intron|SLCO2B1_ENST00000454962.2_5'UTR|SLCO2B1_ENST00000341411.4_5'UTR|SLCO2B1_ENST00000525650.1_Missense_Mutation_p.R4K NM_007256.4 NP_009187.1 O94956 SO2B1_HUMAN solute carrier organic anion transporter family, member 2B1 4 sodium-independent organic anion transport integral to membrane sodium-independent organic anion transmembrane transporter activity breast(2)|endometrium(1)|large_intestine(7)|lung(20)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 39 Ergoloid mesylate(DB01049) ATGGGACCCAGGATAGGTAAG 0.552000 12 22 0 0 1 0 0 CCBE1 147372 broad.mit.edu 37 18 57363926 57363926 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr18:57363926C>T ENST00000439986.4 - 2 184 c.147G>A c.(145-147)gaG>gaA p.E49E RP11-2N1.2_ENST00000588946.1_RNA NM_133459.3 NP_597716.1 Q6UXH8 CCBE1_HUMAN collagen and calcium binding EGF domains 1 49 lymphangiogenesis|sprouting angiogenesis|venous blood vessel morphogenesis collagen calcium ion binding NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(3) 24 Colorectal(73;0.175) CGATTTTGCTCTCTGAGCAGA 0.582000 OREG0025022 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 43 123 0 0 1 0 0 MS4A2 2206 broad.mit.edu 37 11 59860902 59860902 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:59860902C>T ENST00000278888.3 + 5 510 c.408C>T c.(406-408)gcC>gcT p.A136A NM_000139.4 NP_000130.1 Q01362 FCERB_HUMAN membrane-spanning 4-domains, subfamily A, member 2 136 cell proliferation|humoral immune response integral to plasma membrane calcium channel activity endometrium(1)|large_intestine(4)|lung(9)|ovary(1)|upper_aerodigestive_tract(2) 17 all_epithelial(135;0.245) Omalizumab(DB00043) CAAACACTGCCAGCAGCATAG 0.463000 39 78 0 0 1 0 0 PRMT8 56341 broad.mit.edu 37 12 3692312 3692312 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:3692312C>T ENST00000382622.3 + 8 1307 c.917C>T c.(916-918)gCc>gTc p.A306V PRMT8_ENST00000261252.4_3'UTR|PRMT8_ENST00000452611.2_Missense_Mutation_p.A297V NM_019854.4 NP_062828.3 Q9NR22 ANM8_HUMAN protein arginine methyltransferase 8 306 regulation of protein binding cytoplasm|plasma membrane histone-arginine N-methyltransferase activity|protein heterodimerization activity|protein homodimerization activity|protein-arginine omega-N asymmetric methyltransferase activity|protein-arginine omega-N monomethyltransferase activity breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(3)|skin(5)|upper_aerodigestive_tract(1) 37 OV - Ovarian serous cystadenocarcinoma(31;0.0109)|COAD - Colon adenocarcinoma(12;0.0264) TACGTCCACGCCCTGGTCACC 0.498000 18 31 0 0 1 0 0 KIAA0226 9711 broad.mit.edu 37 3 197421426 197421426 + Silent SNP A A G TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:197421426A>G ENST00000273582.5 - 11 1914 c.1369T>C c.(1369-1371)Tta>Cta p.L457L KIAA0226_ENST00000296343.5_Silent_p.L502L|KIAA0226_ENST00000389665.5_Silent_p.L502L NM_001145642.2 NP_001139114.1 Q92622 RUBIC_HUMAN KIAA0226 502 autophagy|endocytosis|negative regulation of autophagy|negative regulation of endocytosis early endosome|late endosome|lysosome protein binding NS(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976) Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(93;0.0446) GCAGCAATTAAGGACTCTGAG 0.473000 39 72 0 0 1 0 0 MYOCD 93649 broad.mit.edu 37 17 12655854 12655854 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:12655854G>A ENST00000425538.1 + 10 1449 c.1249G>A c.(1249-1251)Gat>Aat p.D417N MYOCD_ENST00000343344.4_Missense_Mutation_p.D417N|MYOCD_ENST00000395988.1_Missense_Mutation_p.D321N NM_001146312.1|NM_153604.2 NP_001139784.1|NP_705832.1 Q8IZQ8 MYCD_HUMAN myocardin 417 cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation nucleus nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 70 UCEC - Uterine corpus endometrioid carcinoma (92;0.0969) GAACTTTGGGGATATAACGAC 0.552000 40 85 0 0 1 0 0 CAMTA1 23261 broad.mit.edu 37 1 7797385 7797385 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:7797385C>T ENST00000303635.7 + 15 3620 c.3413C>T c.(3412-3414)tCg>tTg p.S1138L CAMTA1_ENST00000439411.2_Missense_Mutation_p.S1138L NM_015215.2 NP_056030.1 Q9Y6Y1 CMTA1_HUMAN calmodulin binding transcription activator 1 1138 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus calmodulin binding p.S1138L(1) breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 85 Ovarian(185;0.0634) all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388) UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133) CGGGCCATCTCGATTCCCGAC 0.572000 T WWTR1 epitheliod hemangioendothelioma 73 130 0 0 1 0 0 TNFRSF8 943 broad.mit.edu 37 1 12164553 12164553 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:12164553C>T ENST00000263932.2 + 4 608 c.386C>T c.(385-387)tCt>tTt p.S129F TNFRSF8_ENST00000417814.2_Missense_Mutation_p.S18F NM_001243.3 NP_001234.2 P28908 TNR8_HUMAN tumor necrosis factor receptor superfamily, member 8 129 cellular response to mechanical stimulus|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of TRAIL biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process cytoplasm|integral to membrane|plasma membrane p.S129F(1) NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1) 27 Ovarian(185;0.249) Lung NSC(185;8.71e-05)|all_lung(284;9.89e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649) TTCTTCCATTCTGTCTGTCCG 0.577000 26 41 0 0 1 0 0 CSF2RB 1439 broad.mit.edu 37 22 37326841 37326841 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr22:37326841G>A ENST00000262825.5 + 8 1216 c.999G>A c.(997-999)agG>agA p.R333R CSF2RB_ENST00000406230.1_Silent_p.R333R|CSF2RB_ENST00000403662.3_Silent_p.R327R|CSF2RB_ENST00000536485.1_Silent_p.R274R NM_000395.2 NP_000386.1 P32927 IL3RB_HUMAN colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage) 327 respiratory gaseous exchange granulocyte macrophage colony-stimulating factor receptor complex cytokine receptor activity breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(3)|pancreas(1)|skin(5)|upper_aerodigestive_tract(2) 42 Sargramostim(DB00020) AGCCAAGGAGGGCAGAGAAAC 0.602000 28 89 0 0 1 0 0 FILIP1L 11259 broad.mit.edu 37 3 99569810 99569810 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:99569810G>A ENST00000331335.5 - 5 1180 c.710C>T c.(709-711)tCt>tTt p.S237F CMSS1_ENST00000496116.1_Intron|CMSS1_ENST00000421999.2_Intron|FILIP1L_ENST00000476723.1_Intron|FILIP1L_ENST00000487087.1_5'UTR|FILIP1L_ENST00000471562.1_5'UTR|FILIP1L_ENST00000354552.3_Missense_Mutation_p.S237F|FILIP1L_ENST00000383694.2_5'UTR NM_001042459.1 NP_001035924.1 Q4L180 FIL1L_HUMAN filamin A interacting protein 1-like 237 cytoplasm|membrane|myosin complex|nucleus breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 35 CAAAGCAAAAGACTTCAGCTT 0.458000 59 105 0 0 1 0 0 GPX5 2880 broad.mit.edu 37 6 28493824 28493824 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:28493824C>T ENST00000412168.2 + 1 123 c.34C>T c.(34-36)Ccc>Tcc p.P12S GPX6_ENST00000483058.1_Intron|GPX5_ENST00000469384.1_Missense_Mutation_p.P12S NM_001509.2 NP_001500.1 O75715 GPX5_HUMAN glutathione peroxidase 5 (epididymal androgen-related protein) 12 lipid metabolic process|response to oxidative stress extracellular region glutathione peroxidase activity endometrium(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 16 Glutathione(DB00143) CCATCTGCTTCCCCTTCTCCT 0.498000 89 308 0 0 1 0 0 GTF2IRD2P1 401375 broad.mit.edu 37 7 72657511 72657511 + RNA SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:72657511C>T ENST00000425256.1 - 0 2400 NR_002164.1 tgtcgtatttcgtcttcagga 0.507000 11 343 0 0 1 0 0 HDAC11 79885 broad.mit.edu 37 3 13546067 13546067 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:13546067C>T ENST00000295757.3 + 10 1111 c.928C>T c.(928-930)Cgc>Tgc p.R310C HDAC11_ENST00000404548.1_3'UTR|HDAC11_ENST00000522202.1_Missense_Mutation_p.R259C|HDAC11_ENST00000404040.1_Missense_Mutation_p.R210C|HDAC11_ENST00000446613.2_Missense_Mutation_p.R118C|HDAC11_ENST00000402259.1_Missense_Mutation_p.R144C|HDAC11_ENST00000437379.2_Missense_Mutation_p.R282C|HDAC11_ENST00000433119.1_3'UTR|HDAC11_ENST00000402271.1_Missense_Mutation_p.R231C NM_024827.3 NP_079103.2 Q96DB2 HDA11_HUMAN histone deacetylase 11 310 Histone deacetylase. regulation of transcription, DNA-dependent|transcription, DNA-dependent histone deacetylase complex|plasma membrane histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|transcription factor binding breast(1)|endometrium(2)|large_intestine(1)|lung(2)|ovary(4)|prostate(3) 13 GCGCACAGCCCGCATCATTGC 0.612000 47 62 0 0 1 0 0 OR9G4 283189 broad.mit.edu 37 11 56511279 56511279 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:56511279G>A ENST00000302957.3 - 1 8 c.9C>T c.(7-9)ttC>ttT p.F3F NM_001005284.1 NP_001005284.1 Q8NGQ1 OR9G4_HUMAN olfactory receptor, family 9, subfamily G, member 4 3 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 34 CATGAGAAGGGAAAATCATCA 0.388000 40 78 0 0 1 0 0 STON1 11037 broad.mit.edu 37 2 48807953 48807953 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:48807953C>T ENST00000309835.3 + 1 191 c.181C>T c.(181-183)Cct>Tct p.P61S STON1-GTF2A1L_ENST00000309827.2_Missense_Mutation_p.P61S|STON1_ENST00000404752.1_Missense_Mutation_p.P61S|STON1-GTF2A1L_ENST00000405008.1_Missense_Mutation_p.P61S|STON1_ENST00000406226.1_Missense_Mutation_p.P61S|STON1-GTF2A1L_ENST00000402114.2_Missense_Mutation_p.P61S|STON1-GTF2A1L_ENST00000394751.3_Missense_Mutation_p.P61S|STON1-GTF2A1L_ENST00000394754.1_Missense_Mutation_p.P61S stonin 1 NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(19)|prostate(3)|skin(2) 37 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) CAGCAGCACTCCTCTCTCCTC 0.493000 45 91 0 0 1 0 0 PPM1L 151742 broad.mit.edu 37 3 160783293 160783293 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:160783293C>T ENST00000498165.1 + 3 778 c.677C>T c.(676-678)cCt>cTt p.P226L PPM1L_ENST00000480117.1_3'UTR|PPM1L_ENST00000464260.1_Missense_Mutation_p.P47L|PPM1L_ENST00000295839.9_Missense_Mutation_p.P99L NM_139245.2 NP_640338.2 Q5SGD2 PPM1L_HUMAN protein phosphatase, Mg2+/Mn2+ dependent, 1L 226 PP2C-like. protein dephosphorylation|sphingolipid metabolic process endoplasmic reticulum membrane|integral to membrane|protein serine/threonine phosphatase complex metal ion binding|protein serine/threonine phosphatase activity breast(1)|endometrium(1)|large_intestine(4)|lung(5)|skin(1)|upper_aerodigestive_tract(1) 13 Lung(72;0.00149)|LUSC - Lung squamous cell carcinoma(72;0.00216) AACGCTATTCCTTTGTCTCAT 0.483000 41 93 0 0 1 0 0 DLK1 8788 broad.mit.edu 37 14 101200996 101200996 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr14:101200996C>T ENST00000341267.4 + 5 1157 c.915C>T c.(913-915)atC>atT p.I305I DLK1_ENST00000331224.6_Silent_p.I232I NM_003836.5 NP_003827.3 P80370 DLK1_HUMAN delta-like 1 homolog (Drosophila) 305 multicellular organismal development extracellular space|integral to membrane|soluble fraction breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(16)|ovary(2)|prostate(1)|skin(1) 29 Melanoma(154;0.155) GCCAGGCCATCTGCTTCACCA 0.612000 58 123 0 0 1 0 0 GAB4 128954 broad.mit.edu 37 22 17445691 17445691 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr22:17445691C>T ENST00000400588.1 - 8 1548 c.1441G>A c.(1441-1443)Gac>Aac p.D481N NM_001037814.1 NP_001032903.1 Q2WGN9 GAB4_HUMAN GRB2-associated binding protein family, member 4 481 breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(24)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 44 all_epithelial(15;0.112)|Lung NSC(13;0.248) TCTTCTGAGTCTGTGTTGGTG 0.567000 26 43 0 0 1 0 0 DEFB115 245929 broad.mit.edu 37 20 29847270 29847270 + Nonsense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr20:29847270G>A ENST00000400552.1 + 2 102 c.102G>A c.(100-102)tgG>tgA p.W34* NM_001037730.1 NP_001032819.1 Q30KQ5 DB115_HUMAN defensin, beta 115 34 defense response to bacterium extracellular region kidney(1)|lung(3)|ovary(1)|skin(1) 6 Colorectal(19;0.00445)|COAD - Colon adenocarcinoma(19;0.0347) TAGATGGATGGATCAGAAGGT 0.313000 22 48 0 0 1 0 0 PCDHB4 56131 broad.mit.edu 37 5 140503921 140503921 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:140503921G>A ENST00000194152.1 + 1 2341 c.2341G>A c.(2341-2343)Gaa>Aaa p.E781K NM_018938.2 NP_061761.1 Q9Y5E5 PCDB4_HUMAN 781 calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton calcium ion binding autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 67 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CACCGGGAGGGAAGTTAAGGA 0.448000 51 106 0 0 1 0 0 VPS13B 157680 broad.mit.edu 37 8 100847539 100847539 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:100847539G>A ENST00000358544.2 + 53 9915 c.9804G>A c.(9802-9804)aaG>aaA p.K3268K VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Silent_p.K3243K NM_017890.4 NP_060360.3 Q7Z7G8 VP13B_HUMAN vacuolar protein sorting 13 homolog B (yeast) 3268 protein transport NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9) 193 Breast(36;3.73e-07) OV - Ovarian serous cystadenocarcinoma(57;0.00636) TGCTTATAAAGGAAAACATTA 0.328000 36 49 0 0 1 0 0 CASS4 57091 broad.mit.edu 37 20 55027632 55027632 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr20:55027632G>A ENST00000371336.3 + 5 1601 c.1400G>A c.(1399-1401)aGa>aAa p.R467K CASS4_ENST00000434344.1_Intron|CASS4_ENST00000360314.3_Missense_Mutation_p.R467K NM_001164114.1|NM_020356.3 NP_001157586.1|NP_065089.2 Q9NQ75 CASS4_HUMAN Cas scaffolding protein family member 4 467 cell adhesion cytoplasm|cytoskeleton|focal adhesion two-component sensor activity breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(4)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1) 54 AGGAAGTGGAGATTCCGAGAC 0.512000 21 48 0 0 1 0 0 CLUH 23277 broad.mit.edu 37 17 2601461 2601461 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:2601461G>A ENST00000570628.1 - 10 1681 c.1576C>T c.(1576-1578)Cgg>Tgg p.R526W CLUH_ENST00000575014.1_Missense_Mutation_p.R458W|CLUH_ENST00000435359.1_Missense_Mutation_p.R526W|CLUH_ENST00000538975.1_Missense_Mutation_p.R526W clustered mitochondria (cluA/CLU1) homolog TTGAGGGGCCGACTCGTGCGC 0.647000 8 7 0 0 1 0 0 TCL6 27004 broad.mit.edu 37 14 96137754 96137754 + RNA SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr14:96137754G>A ENST00000467865.1 + 0 2111 RP11-1070N10.6_ENST00000461160.1_RNA large_intestine(1)|lung(7) 8 all_cancers(154;0.103) Epithelial(152;0.0655)|all cancers(159;0.149)|BRCA - Breast invasive adenocarcinoma(234;0.206)|COAD - Colon adenocarcinoma(157;0.207) gcacaaagtgggagcccgata 0.493000 T TRA@ T-ALL 25 24 0 0 1 0 0 FBXO36 130888 broad.mit.edu 37 2 230875575 230875575 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:230875575G>A ENST00000373652.3 + 5 870 c.449G>A c.(448-450)gGa>gAa p.G150E FBXO36_ENST00000409992.1_Missense_Mutation_p.G161E|FBXO36_ENST00000283946.3_Missense_Mutation_p.G181E Q8NEA4 FBX36_HUMAN F-box protein 36 181 endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1) 7 Renal(207;0.0112)|all_lung(227;0.0179)|Lung NSC(271;0.0804)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167) Epithelial(121;7.56e-14)|all cancers(144;7.74e-11)|Lung(119;0.00488)|LUSC - Lung squamous cell carcinoma(224;0.008) CAAAAATATGGAAACCTGAGA 0.532000 7 26 0 0 1 0 0 SIGLEC1 6614 broad.mit.edu 37 20 3682012 3682012 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr20:3682012G>A ENST00000344754.4 - 6 1504 c.1505C>T c.(1504-1506)tCc>tTc p.S502F SIGLEC1_ENST00000202578.4_Missense_Mutation_p.S502F NM_023068.3 NP_075556.1 Q9BZZ2 SN_HUMAN sialic acid binding Ig-like lectin 1, sialoadhesin 502 Ig-like C2-type 4. cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response extracellular region|integral to membrane|plasma membrane sugar binding NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1) 70 GTCCAGGGTGGAGGTTGCATT 0.582000 15 38 0 0 1 0 0 SIGLEC7 27036 broad.mit.edu 37 19 51645948 51645948 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:51645948C>T ENST00000317643.6 + 1 391 c.322C>T c.(322-324)Ctg>Ttg p.L108L SIGLEC7_ENST00000305628.7_Silent_p.L108L|SIGLEC7_ENST00000600577.1_Silent_p.L108L NM_014385.2 NP_055200.1 Q9Y286 SIGL7_HUMAN sialic acid binding Ig-like lectin 7 108 Ig-like V-type. cell adhesion integral to plasma membrane receptor activity|sugar binding autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(11)|skin(2)|stomach(1) 29 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.000836)|OV - Ovarian serous cystadenocarcinoma(262;0.00297) AAATTGCACCCTGAGCATCAG 0.488000 54 139 0 0 1 0 0 DPYD 1806 broad.mit.edu 37 1 98039485 98039485 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:98039485G>A ENST00000370192.3 - 11 1270 c.1170C>T c.(1168-1170)ttC>ttT p.F390F NM_000110.3 NP_000101.2 Q12882 DPYD_HUMAN dihydropyrimidine dehydrogenase 390 'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process cytosol 4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1) 83 all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994) Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216) Capecitabine(DB01101)|Enfuvirtide(DB00109) GTGGGGACAGGAATGGCAGAA 0.378000 33 63 0 0 1 0 0 SLC22A14 9389 broad.mit.edu 37 3 38350492 38350492 + Missense_Mutation SNP G G C TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:38350492G>C ENST00000273173.4 + 4 914 c.823G>C c.(823-825)Gga>Cga p.G275R SLC22A14_ENST00000448498.1_Missense_Mutation_p.G275R NM_004803.3 NP_004794.2 Q9Y267 S22AE_HUMAN solute carrier family 22, member 14 275 integral to plasma membrane organic cation transmembrane transporter activity central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(5)|prostate(2)|skin(1) 21 KIRC - Kidney renal clear cell carcinoma(284;0.0554)|Kidney(284;0.0696) CATTATCCTGGGACACTGCTT 0.577000 7 269 0 0 1 0 0 CEP170B 283638 broad.mit.edu 37 14 105344784 105344784 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr14:105344784C>T ENST00000453495.1 + 5 507 c.279C>T c.(277-279)tcC>tcT p.S93S CEP170B_ENST00000414716.3_Silent_p.S93S|CEP170B_ENST00000418279.1_Silent_p.S23S|CEP170B_ENST00000556508.1_Silent_p.S23S centrosomal protein 170B GTCCACATTCCAACATGTATG 0.622000 36 105 0 0 1 0 0 A1CF 29974 broad.mit.edu 37 10 52603789 52603789 + Nonsense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:52603789G>A ENST00000395489.2 - 6 568 c.172C>T c.(172-174)Cga>Tga p.R58* A1CF_ENST00000373993.1_Nonsense_Mutation_p.R65*|A1CF_ENST00000395495.1_Nonsense_Mutation_p.R65*|A1CF_ENST00000374001.1_Nonsense_Mutation_p.R65*|A1CF_ENST00000373995.3_Nonsense_Mutation_p.R73*|A1CF_ENST00000373997.3_Nonsense_Mutation_p.R65*|A1CF_ENST00000282641.2_Nonsense_Mutation_p.R65* NM_001198819.1 NP_001185748.1 Q9NQ94 A1CF_HUMAN APOBEC1 complementation factor 65 RRM 1. cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm nucleotide binding|protein binding|single-stranded RNA binding NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3) 29 AAAAGGTCTCGGGGAAGTTTT 0.393000 46 154 0 0 1 0 0 EXPH5 23086 broad.mit.edu 37 11 108384032 108384032 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:108384032C>T ENST00000265843.4 - 6 2312 c.2202G>A c.(2200-2202)ggG>ggA p.G734G EXPH5_ENST00000525344.1_Silent_p.G727G|EXPH5_ENST00000428840.1_Silent_p.G658G|EXPH5_ENST00000443411.1_Silent_p.G546G NM_015065.2 NP_055880.2 Q149M6 Q149M6_HUMAN exophilin 5 734 intracellular protein transport Rab GTPase binding breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1) 91 all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16) Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184) AGTTTGAGATCCCTGTCTGTG 0.393000 35 33 0 0 1 0 0 PCLO 27445 broad.mit.edu 37 7 82545228 82545228 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:82545228G>A ENST00000423517.2 - 7 12411 c.12074C>T c.(12073-12075)cCa>cTa p.P4025L PCLO_ENST00000333891.8_Missense_Mutation_p.P4025L|PCLO_ENST00000437081.1_Missense_Mutation_p.P745L NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 3956 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 GCTTGATATTGGACTGCTTGC 0.388000 53 210 0 0 1 0 0 SPATA9 83890 broad.mit.edu 37 5 95018313 95018313 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:95018313C>T ENST00000274432.8 - 2 210 c.69G>A c.(67-69)ggG>ggA p.G23G SPATA9_ENST00000477047.2_5'UTR|SPATA9_ENST00000395899.3_Silent_p.G23G|RFESD_ENST00000508206.1_Intron NM_031952.3 NP_114158.2 Q9BWV2 SPAT9_HUMAN spermatogenesis associated 9 23 cell differentiation|multicellular organismal development|spermatogenesis integral to membrane large_intestine(3)|lung(4) 7 all_cancers(142;1.28e-06)|all_epithelial(76;1.55e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.00473)|Colorectal(57;0.0846)|Breast(839;0.198) all cancers(79;8.91e-16) CTTTCTGGATCCCCTCGACTA 0.348000 7 81 0 0 1 0 0 SLC16A2 6567 broad.mit.edu 37 X 73744353 73744353 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chrX:73744353C>T ENST00000276033.5 + 3 1123 c.957C>T c.(955-957)tcC>tcT p.S319S SLC16A2_ENST00000587091.1_Silent_p.S245S P36021 MOT8_HUMAN solute carrier family 16, member 2 (thyroid hormone transporter) 245 integral to plasma membrane|membrane fraction monocarboxylic acid transmembrane transporter activity|symporter activity breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|skin(2) 21 Pyruvic acid(DB00119) TCTCCATGTCCTTCCCCTTCC 0.527000 23 8 0 0 1 0 0 MYO15A 51168 broad.mit.edu 37 17 18058713 18058713 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:18058713C>T ENST00000205890.5 + 47 8764 c.8426C>T c.(8425-8427)gCc>gTc p.A2809V MYO15A_ENST00000418233.3_Missense_Mutation_p.A73V|MYO15A_ENST00000585180.1_Silent_p.G71G NM_016239.3 NP_057323.3 Q9UKN7 MYO15_HUMAN myosin XVA 2809 Tail. sensory perception of sound cytoplasm|myosin complex|stereocilium actin binding|ATP binding|calmodulin binding|motor activity breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 99 all_neural(463;0.228) GGCCAGGAGGCCGGCGGGCAG 0.637000 47 76 0 0 1 0 0 ATG12 9140 broad.mit.edu 37 5 115177274 115177274 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:115177274G>A ENST00000274459.4 - 1 274 c.117C>T c.(115-117)ttC>ttT p.F39F ATG12_ENST00000509910.1_5'UTR|AP3S1_ENST00000316788.7_5'UTR NM_004707.3 NP_004698.3 O94817 ATG12_HUMAN autophagy related 12 0 autophagic vacuole assembly|negative regulation of type I interferon production pre-autophagosomal structure membrane protein binding endometrium(2)|kidney(1)|lung(1)|prostate(1) 5 all_cancers(142;0.00377)|all_epithelial(76;0.000129)|Prostate(80;0.0132)|Ovarian(225;0.0776)|Lung NSC(810;0.245) OV - Ovarian serous cystadenocarcinoma(64;7.59e-08)|Epithelial(69;7.05e-07)|all cancers(49;3.11e-05) CTCGAGAGCGGAAGTAGCGAC 0.577000 67 153 0 0 1 0 0 KNG1 3827 broad.mit.edu 37 3 186457197 186457197 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:186457197G>A ENST00000265023.4 + 9 1331 c.1119G>A c.(1117-1119)ctG>ctA p.L373L KNG1_ENST00000447445.1_Silent_p.L337L|RP11-573D15.8_ENST00000599314.1_RNA|KNG1_ENST00000287611.2_Silent_p.L373L|RP11-573D15.8_ENST00000354642.2_RNA NM_001102416.2 NP_001095886.1 P01042 KNG1_HUMAN kininogen 1 373 Cystatin 3. blood coagulation, intrinsic pathway|elevation of cytosolic calcium ion concentration|inflammatory response|negative regulation of blood coagulation|negative regulation of cell adhesion|platelet activation|platelet degranulation|positive regulation of apoptosis|positive regulation of renal sodium excretion|positive regulation of urine volume|smooth muscle contraction|vasodilation extracellular space|plasma membrane|platelet alpha granule lumen cysteine-type endopeptidase inhibitor activity|heparin binding|receptor binding|zinc ion binding endometrium(1)|lung(15)|prostate(1)|skin(2)|stomach(2) 21 all_cancers(143;8.96e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;4.12e-20) GBM - Glioblastoma multiforme(93;0.0798) Ouabain(DB01092) GTCAACCACTGGGAATGGTAT 0.403000 8 69 0 0 1 0 0 DOPEY1 23033 broad.mit.edu 37 6 83828646 83828646 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:83828646C>T ENST00000349129.2 + 8 1080 c.820C>T c.(820-822)Ctt>Ttt p.L274F DOPEY1_ENST00000536812.1_3'UTR|DOPEY1_ENST00000237163.5_Missense_Mutation_p.L274F|DOPEY1_ENST00000369739.3_Missense_Mutation_p.L274F NM_015018.3 NP_055833.2 Q5JWR5 DOP1_HUMAN dopey family member 1 274 protein transport p.L274F(1) breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 67 all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203) BRCA - Breast invasive adenocarcinoma(397;0.053) GTCAGCAGCCCTTCATGTAGT 0.393000 11 178 0 0 1 0 0 HMCN1 83872 broad.mit.edu 37 1 186086683 186086683 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:186086683C>T ENST00000271588.4 + 77 12005 c.11776C>T c.(11776-11778)Ccc>Tcc p.P3926S HMCN1_ENST00000367492.2_Missense_Mutation_p.P3926S NM_031935.2 NP_114141.2 Q96RW7 HMCN1_HUMAN hemicentin 1 3926 Ig-like C2-type 38. response to stimulus|visual perception basement membrane calcium ion binding p.P3926S(1) NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18) 308 AGTTCCATTTCCCTCAATTCA 0.453000 35 119 0 0 1 0 0 IFT122 55764 broad.mit.edu 37 3 129210989 129210989 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:129210989C>T ENST00000296266.3 + 18 2343 c.2151C>T c.(2149-2151)ttC>ttT p.F717F IFT122_ENST00000440957.2_Silent_p.F457F|IFT122_ENST00000347300.2_Silent_p.F607F|IFT122_ENST00000504021.1_Intron|IFT122_ENST00000349441.2_Silent_p.F555F|IFT122_ENST00000507564.1_Silent_p.F658F|IFT122_ENST00000431818.2_Silent_p.F516F|IFT122_ENST00000348417.2_Silent_p.F666F NM_052985.2 NP_443711.2 Q9HBG6 IF122_HUMAN intraflagellar transport 122 homolog (Chlamydomonas) 666 camera-type eye morphogenesis|cilium morphogenesis|embryonic body morphogenesis|embryonic heart tube development|limb development|neural tube closure microtubule basal body|photoreceptor connecting cilium breast(3)|cervix(1)|endometrium(9)|large_intestine(10)|lung(21)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 52 CACAGGCCTTCATCAGAGTAC 0.433000 63 208 0 0 1 0 0 BAI3 577 broad.mit.edu 37 6 70064167 70064167 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:70064167C>T ENST00000370598.1 + 27 4323 c.3502C>T c.(3502-3504)Ccc>Tcc p.P1168S BAI3_ENST00000546190.1_Missense_Mutation_p.P132S|BAI3_ENST00000238918.8_Missense_Mutation_p.P374S NM_001704.2 NP_001695.1 O60242 BAI3_HUMAN brain-specific angiogenesis inhibitor 3 1168 negative regulation of angiogenesis|neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 210 all_lung(197;0.212) CTGTCAGGATCCCATCAATGC 0.393000 38 96 0 0 1 0 0 KIF26B 55083 broad.mit.edu 37 1 245848919 245848919 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:245848919G>A ENST00000366518.4 + 9 1595 c.1491G>A c.(1489-1491)aaG>aaA p.K497K KIF26B_ENST00000407071.2_Silent_p.K878K Q2KJY2 KI26B_HUMAN kinesin family member 26B 878 Kinesin-motor. microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 51 all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127) OV - Ovarian serous cystadenocarcinoma(106;0.022) TCTCTGACAAGGAGCTCACCG 0.667000 9 35 0 0 1 0 0 ELP3 55140 broad.mit.edu 37 8 28019582 28019582 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:28019582C>T ENST00000256398.8 + 14 1931 c.1554C>T c.(1552-1554)atC>atT p.I518I ELP3_ENST00000521015.1_Silent_p.I504I|ELP3_ENST00000537665.1_Silent_p.I399I|ELP3_ENST00000380353.4_Silent_p.I426I|ELP3_ENST00000542181.1_Silent_p.I389I|ELP3_ENST00000524103.1_Silent_p.I446I NM_018091.5 NP_060561.3 Q9H9T3 ELP3_HUMAN elongator acetyltransferase complex subunit 3 518 N-acetyltransferase. regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|DNA-directed RNA polymerase II, holoenzyme|nucleolus|transcription elongation factor complex histone acetyltransferase activity|iron-sulfur cluster binding|metal ion binding|phosphorylase kinase regulator activity|protein binding kidney(2)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 10 Ovarian(32;0.0218) UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|KIRC - Kidney renal clear cell carcinoma(542;0.127)|Kidney(114;0.151)|Colorectal(74;0.183) CTGGGAAAATCGCTGTGATAT 0.488000 31 61 0 0 1 0 0 PLCB1 23236 broad.mit.edu 37 20 8639190 8639190 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr20:8639190C>T ENST00000378641.3 + 9 1176 c.701C>T c.(700-702)gCa>gTa p.A234V PLCB1_ENST00000378637.2_Missense_Mutation_p.A234V|PLCB1_ENST00000338037.6_Missense_Mutation_p.A234V NM_182734.1 NP_877398.1 Q9NQ66 PLCB1_HUMAN phospholipase C, beta 1 (phosphoinositide-specific) 234 activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission cytosol|nuclear chromatin|nuclear speck calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4) 95 TTTAGTGGTGCAAAAAGCAAA 0.303000 29 77 0 0 1 0 0 PREX1 57580 broad.mit.edu 37 20 47305327 47305327 + Missense_Mutation SNP A A T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr20:47305327A>T ENST00000396220.1 - 10 1224 c.1202T>A c.(1201-1203)aTg>aAg p.M401K PREX1_ENST00000371941.3_Missense_Mutation_p.M401K Q8TCU6 PREX1_HUMAN phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1 401 actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process cytosol|plasma membrane enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 110 BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198) ATCACGCTCCATGCCCAGCTT 0.607000 35 71 0 0 1 0 0 CACNA2D1 781 broad.mit.edu 37 7 81579719 81579719 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:81579719G>A ENST00000356860.3 - 39 3603 c.3265C>T c.(3265-3267)Cgc>Tgc p.R1089C CACNA2D1_ENST00000535308.1_Missense_Mutation_p.R301C|CACNA2D1_ENST00000356253.5_Missense_Mutation_p.R1101C NM_000722.2 NP_000713.2 P54289 CA2D1_HUMAN calcium channel, voltage-dependent, alpha 2/delta subunit 1 1101 voltage-gated calcium channel complex metal ion binding breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 81 Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115) CATAACAGGCGGTGTGTGCTG 0.448000 8 102 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179414084 179414084 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:179414084C>T ENST00000589042.1 - 339 92493 c.92269G>A c.(92269-92271)Gaa>Aaa p.E30757K TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E21817K|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E29116K|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E28189K|TTN_ENST00000460472.2_Missense_Mutation_p.E21692K|TTN_ENST00000342175.6_Missense_Mutation_p.E21884K|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000456053.1_RNA|RP11-65L3.2_ENST00000603415.1_RNA|TTN-AS1_ENST00000419746.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 29116 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TCTCTTCTTTCAAGGATATAC 0.428000 42 86 0 0 1 0 0 SLC47A1 55244 broad.mit.edu 37 17 19458617 19458617 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:19458617G>A ENST00000270570.4 + 7 722 c.636G>A c.(634-636)ggG>ggA p.G212G SLC47A1_ENST00000575023.1_Intron|SLC47A1_ENST00000457293.1_Silent_p.G212G|SLC47A1_ENST00000395585.1_Silent_p.G212G|SLC47A1_ENST00000542886.1_Intron|SLC47A1_ENST00000436810.2_Silent_p.G189G|SLC47A1_ENST00000571335.1_Intron|SLC47A1_ENST00000584348.1_3'UTR NM_018242.2 NP_060712.2 Q96FL8 S47A1_HUMAN solute carrier family 47 (multidrug and toxin extrusion), member 1 212 integral to membrane|plasma membrane drug:hydrogen antiporter activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(5)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1) 23 all_cancers(12;2.49e-05)|all_epithelial(12;0.00263)|Hepatocellular(7;0.00345) TGCATCTTGGGGTGATGTGAG 0.502000 60 122 0 0 1 0 0 RNF17 56163 broad.mit.edu 37 13 25362126 25362126 + Splice_Site SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr13:25362126G>A ENST00000255324.5 + 7 664 c.611_splice c.e7-1 p.R204_splice RNF17_ENST00000255325.5_Silent_p.R205R|RNF17_ENST00000255326.4_3'UTR|RNF17_ENST00000381921.1_Splice_Site_p.R204_splice NM_001184993.1|NM_031277.2 NP_001171922.1|NP_112567.2 Q9BXT8 RNF17_HUMAN ring finger protein 17 204 multicellular organismal development cytoplasm|nucleus hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6) 36 Lung SC(185;0.0225)|Breast(139;0.077) all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524) TTAAATGAAGGAAAAAGAACC 0.264000 40 75 0 0 1 0 0 DNAH11 8701 broad.mit.edu 37 7 21737786 21737786 + Missense_Mutation SNP G G C TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:21737786G>C ENST00000328843.6 + 37 6187 c.6156G>C c.(6154-6156)aaG>aaC p.K2052N DNAH11_ENST00000409508.3_Missense_Mutation_p.K2045N Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 2052 AAA 1 (By similarity). microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 230 TAGCCCGAAAGTTCATTACGT 0.428000 Kartagener syndrome 22 51 0 0 1 0 0 DNAH5 1767 broad.mit.edu 37 5 13871769 13871769 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:13871769C>T ENST00000265104.4 - 23 3606 c.3502G>A c.(3502-3504)Gaa>Aaa p.E1168K CTB-51A17.1_ENST00000503244.1_RNA NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 1168 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity p.E1168K(1) NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) GACTCAAATTCAGAAAGCAAG 0.403000 Kartagener syndrome 38 21 0 0 1 0 0 LIFR 3977 broad.mit.edu 37 5 38504209 38504209 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:38504209G>A ENST00000263409.4 - 10 1468 c.1306C>T c.(1306-1308)Cct>Tct p.P436S LIFR_ENST00000453190.2_Missense_Mutation_p.P436S|LIFR_ENST00000503088.1_5'UTR NM_002310.5 NP_002301.1 P42702 LIFR_HUMAN leukemia inhibitory factor receptor alpha 436 Fibronectin type-III 3. positive regulation of cell proliferation extracellular region|integral to plasma membrane ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2) 78 all_lung(31;0.00021) AATGAAGTAGGAGTATGGGGA 0.269000 T PLAG1 salivary adenoma 37 179 0 0 1 0 0 ZBED6CL 113763 broad.mit.edu 37 7 150027741 150027741 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:150027741G>A ENST00000343855.4 + 1 804 c.248G>A c.(247-249)gGg>gAg p.G83E LRRC61_ENST00000493307.1_Intron|LRRC61_ENST00000359623.4_Intron|LRRC61_ENST00000323078.7_Intron NM_138434.2 NP_612443.1 ZBED6 C-terminal like TGCTTCAAGGGGAAGATTGAG 0.567000 6 269 0 0 1 0 0 SVEP1 79987 broad.mit.edu 37 9 113212463 113212463 + Missense_Mutation SNP C C A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:113212463C>A ENST00000401783.2 - 24 4315 c.3979G>T c.(3979-3981)Ggg>Tgg p.G1327W SVEP1_ENST00000467821.1_5'UTR|SVEP1_ENST00000374469.1_Missense_Mutation_p.G1304W|SVEP1_ENST00000302728.8_Missense_Mutation_p.G1327W NM_153366.3 NP_699197.3 Q4LDE5 SVEP1_HUMAN sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 1327 EGF-like 4; calcium-binding (Potential). cell adhesion cytoplasm|extracellular region|membrane calcium ion binding NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4) 147 AAGAATCCCCCAACCTGGTCT 0.473000 78 125 3.83446e-41 3.88225e-41 1 1 0 UNC79 57578 broad.mit.edu 37 14 94048655 94048655 + Missense_Mutation SNP A A G TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr14:94048655A>G ENST00000553484.1 + 20 2922 c.2768A>G c.(2767-2769)aAc>aGc p.N923S UNC79_ENST00000393151.2_Missense_Mutation_p.N923S|UNC79_ENST00000555664.1_Missense_Mutation_p.N923S|UNC79_ENST00000256339.4_Missense_Mutation_p.N746S Q9P2D8 UNC79_HUMAN unc-79 homolog (C. elegans) 923 integral to membrane breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4) 118 CATGGGGAGAACCCAGGCAAC 0.582000 30 43 0 0 1 0 0 ARHGAP33 115703 broad.mit.edu 37 19 36279032 36279032 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:36279032C>T ENST00000007510.4 + 21 3709 c.3565C>T c.(3565-3567)Cct>Tct p.P1189S ARHGAP33_ENST00000314737.5_Missense_Mutation_p.P1028S|ARHGAP33_ENST00000378944.5_Missense_Mutation_p.P1025S O14559 RHG33_HUMAN Rho GTPase activating protein 33 1189 cell communication|protein transport|signal transduction intracellular GTPase activator activity|phosphatidylinositol binding|protein binding endometrium(7)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 37 CTCCTCTTCCCCTCCTGCCCA 0.682000 50 94 0 0 1 0 0 SCP2 6342 broad.mit.edu 37 1 53453782 53453782 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:53453782C>T ENST00000371514.3 + 11 1223 c.1055C>T c.(1054-1056)tCa>tTa p.S352L SCP2_ENST00000528311.1_Missense_Mutation_p.S271L|SCP2_ENST00000407246.2_Missense_Mutation_p.S328L|SCP2_ENST00000371509.4_Missense_Mutation_p.S308L|SCP2_ENST00000371513.5_Missense_Mutation_p.S308L NM_002979.4 NP_002970.2 P22307 NLTP_HUMAN sterol carrier protein 2 352 bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase|lipid transport mitochondrion|nucleus|peroxisomal matrix propanoyl-CoA C-acyltransferase activity|propionyl-CoA C2-trimethyltridecanoyltransferase activity|protein binding|sterol binding breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1) 15 GGACTGATTTCAAAGGGACAC 0.368000 22 35 0 0 1 0 0 GCNT2 2651 broad.mit.edu 37 6 10557236 10557236 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:10557236C>T ENST00000316170.3 + 1 997 c.580C>T c.(580-582)Ccc>Tcc p.P194S GCNT2_ENST00000410107.1_Intron|GCNT2_ENST00000379597.3_Intron|GCNT2_ENST00000397423.2_Intron|GCNT2_ENST00000495262.1_Intron NM_001491.2 NP_001482.1 Q8N0V5 GNT2A_HUMAN glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group) 196 Golgi membrane|integral to membrane N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity endometrium(2)|kidney(1)|large_intestine(5)|lung(2)|ovary(2) 12 Ovarian(93;0.107)|Breast(50;0.148) all_hematologic(90;0.107) KIRC - Kidney renal clear cell carcinoma(1;0.099)|Kidney(1;0.119) GCAAGACTTCCCCCTGAAAAC 0.493000 94 96 0 0 1 0 0 GTF3C4 9329 broad.mit.edu 37 9 135554965 135554965 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:135554965C>T ENST00000372146.4 + 2 2523 c.1959C>T c.(1957-1959)ctC>ctT p.L653L NM_012204.2 NP_036336.2 Q9UKN8 TF3C4_HUMAN general transcription factor IIIC, polypeptide 4, 90kDa 653 transcription initiation from RNA polymerase III promoter transcription factor TFIIIC complex DNA binding|enzyme activator activity|histone acetyltransferase activity|protein binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1) 20 OV - Ovarian serous cystadenocarcinoma(145;8.15e-07)|Epithelial(140;2.6e-05) ATGACTCGCTCCCCACGACTG 0.542000 21 59 0 0 1 0 0 ZNF846 162993 broad.mit.edu 37 19 9868869 9868869 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:9868869G>A ENST00000397902.2 - 6 1297 c.884C>T c.(883-885)tCa>tTa p.S295L ZNF846_ENST00000592859.1_Missense_Mutation_p.S166L|ZNF846_ENST00000586293.1_3'UTR|ZNF846_ENST00000588267.1_Missense_Mutation_p.S166L NM_001077624.1 NP_001071092.1 Q147U1 ZN846_HUMAN zinc finger protein 846 295 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|upper_aerodigestive_tract(1) 22 AGTAAGGTATGAAGAATGGGT 0.393000 45 92 0 0 1 0 0 FLT4 2324 broad.mit.edu 37 5 180057760 180057760 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:180057760C>T ENST00000261937.6 - 3 273 c.195G>A c.(193-195)caG>caA p.Q65Q FLT4_ENST00000393347.3_Silent_p.Q65Q|FLT4_ENST00000424276.2_5'UTR|FLT4_ENST00000502649.1_Silent_p.Q65Q NM_182925.4 NP_891555.2 P35916 VGFR3_HUMAN fms-related tyrosine kinase 4 65 Ig-like C2-type 1. positive regulation of cell proliferation integral to plasma membrane ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114) all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.134) Sorafenib(DB00398)|Sunitinib(DB01268) CTGGCGCCTCCTGAGCTCCTG 0.687000 25 42 0 0 1 0 0 TNNC2 7125 broad.mit.edu 37 20 44453174 44453174 + Silent SNP C C T rs144632671 byFrequency TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr20:44453174C>T ENST00000372557.1 - 4 321 c.114G>A c.(112-114)aaG>aaA p.K38K TNNC2_ENST00000372555.3_Silent_p.K53K P02585 TNNC2_HUMAN troponin C type 2 (fast) 53 EF-hand 1. muscle filament sliding|regulation of muscle contraction|skeletal muscle contraction cytosol|troponin complex calcium ion binding endometrium(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1) 5 Myeloproliferative disorder(115;0.0122) CCAGCTCCTCCTTGGTGGGTG 0.627000 48 99 0 0 1 0 0 MYO3A 53904 broad.mit.edu 37 10 26243877 26243877 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:26243877C>T ENST00000265944.5 + 4 409 c.243C>T c.(241-243)ttC>ttT p.F81F MYO3A_ENST00000376301.1_Silent_p.F81F|MYO3A_ENST00000543632.1_Silent_p.F81F|MYO3A_ENST00000376302.1_Silent_p.F81F NM_017433.4 NP_059129.3 Q8NEV4 MYO3A_HUMAN myosin IIIA 81 Protein kinase. protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception cytoplasm|filamentous actin|filopodium|myosin complex actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 146 TGGTCAGATTCTATGGGATAT 0.363000 56 112 0 0 1 0 0 MTTP 4547 broad.mit.edu 37 4 100532309 100532309 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:100532309C>T ENST00000457717.1 + 14 2035 c.1779C>T c.(1777-1779)gtC>gtT p.V593V RP11-766F14.1_ENST00000508578.1_RNA|MTTP_ENST00000511045.1_Silent_p.V620V|MTTP_ENST00000265517.5_Silent_p.V593V NM_000253.2 NP_000244.2 P55157 MTP_HUMAN microsomal triglyceride transfer protein 593 Vitellogenin. lipid metabolic process|lipoprotein metabolic process endoplasmic reticulum lumen lipid binding|lipid transporter activity breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1) 57 OV - Ovarian serous cystadenocarcinoma(123;6.04e-09) Hesperetin(DB01094) GCAAAATTGTCCGTCGAGTTC 0.398000 29 91 0 0 1 0 0 TRAV22 28661 broad.mit.edu 37 14 22539370 22539370 + RNA SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr14:22539370G>A ENST00000390450.3 + 0 363 AAACAGAATGGAAGATTAAGC 0.453000 17 44 0 0 1 0 0 SAMD9L 219285 broad.mit.edu 37 7 92761468 92761468 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:92761468C>T ENST00000318238.4 - 5 5033 c.3817G>A c.(3817-3819)Gat>Aat p.D1273N SAMD9L_ENST00000437805.1_Missense_Mutation_p.D1273N|SAMD9L_ENST00000411955.1_Missense_Mutation_p.D1273N NM_152703.2 NP_689916.2 Q8IVG5 SAM9L_HUMAN sterile alpha motif domain containing 9-like 1273 central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 88 all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989) STAD - Stomach adenocarcinoma(171;0.000302) ACCATATAATCAATAAAAAAG 0.338000 42 110 0 0 1 0 0 UNK 85451 broad.mit.edu 37 17 73780853 73780853 + Nonsense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:73780853G>A ENST00000293218.3 + 2 120 c.120G>A c.(118-120)tgG>tgA p.W40* H3F3B_ENST00000586607.1_Intron|UNK_ENST00000589666.1_5'UTR Q9C0B0 UNK_HUMAN unkempt family zinc finger 0 nucleic acid binding|zinc ion binding cervix(3)|endometrium(8)|kidney(2)|large_intestine(5)|lung(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1) 25 all cancers(21;2.61e-06)|Epithelial(20;7.39e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|LUSC - Lung squamous cell carcinoma(166;0.154) CTGCCGTGTGGGGGGTCTTCA 0.617000 10 61 0 0 1 0 0 PSD3 23362 broad.mit.edu 37 8 18729755 18729755 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:18729755C>T ENST00000440756.2 - 3 721 c.619G>A c.(619-621)Gaa>Aaa p.E207K PSD3_ENST00000327040.8_Missense_Mutation_p.E207K|PSD3_ENST00000523619.1_Missense_Mutation_p.E142K Q9NYI0 PSD3_HUMAN pleckstrin and Sec7 domain containing 3 207 regulation of ARF protein signal transduction cell junction|cytoplasm|postsynaptic density|postsynaptic membrane ARF guanyl-nucleotide exchange factor activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183) TAAAAACTTTCCTCCGTTGTT 0.448000 84 91 0 0 1 0 0 PCLO 27445 broad.mit.edu 37 7 82764838 82764838 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:82764838G>A ENST00000423517.2 - 3 2365 c.2028C>T c.(2026-2028)tcC>tcT p.S676S PCLO_ENST00000333891.8_Silent_p.S676S NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 622 Pro-rich. cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 GTGGCTGTGGGGATGATTTGC 0.527000 21 59 0 0 1 0 0 CNTNAP3 79937 broad.mit.edu 37 9 39176011 39176011 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:39176011G>A ENST00000297668.6 - 7 1079 c.1006C>T c.(1006-1008)Ctt>Ttt p.L336F CNTNAP3_ENST00000377659.1_Missense_Mutation_p.L336F|CNTNAP3_ENST00000377653.2_5'UTR|CNTNAP3_ENST00000358144.2_Missense_Mutation_p.L248F|CNTNAP3_ENST00000377656.2_Missense_Mutation_p.L336F|CNTNAP3_ENST00000323947.7_Missense_Mutation_p.L336F NM_033655.3 NP_387504.2 Q9BZ76 CNTP3_HUMAN contactin associated protein-like 3 336 Laminin G-like 1. cell adhesion|cell recognition|signal transduction extracellular region|integral to membrane|plasma membrane receptor binding breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2) 24 GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681) TTATAATAAAGATTTTCTAAA 0.403000 38 74 0 0 1 0 0 SPG11 80208 broad.mit.edu 37 15 44955833 44955833 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr15:44955833C>T ENST00000261866.7 - 1 29 c.13G>A c.(13-15)Gaa>Aaa p.E5K SPG11_ENST00000535302.2_Missense_Mutation_p.E5K|SPG11_ENST00000427534.2_Missense_Mutation_p.E5K|SPG11_ENST00000559193.1_Missense_Mutation_p.E5K|SPG11_ENST00000558319.1_Missense_Mutation_p.E5K NM_025137.3 NP_079413.3 Q96JI7 SPTCS_HUMAN spastic paraplegia 11 (autosomal recessive) 5 cell death cytosol|integral to membrane|nucleus protein binding autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 72 all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122) all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214) GCGACCCCTTCCTCTGCAGCC 0.692000 4 29 0 0 1 0 0 L3MBTL3 84456 broad.mit.edu 37 6 130378591 130378591 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:130378591C>T ENST00000529410.1 + 11 1187 c.708C>T c.(706-708)tcC>tcT p.S236S L3MBTL3_ENST00000361794.2_Silent_p.S236S|L3MBTL3_ENST00000368136.2_Silent_p.S236S|L3MBTL3_ENST00000368139.2_Silent_p.S211S|L3MBTL3_ENST00000526019.1_Silent_p.S211S|L3MBTL3_ENST00000533560.1_Silent_p.S211S Q96JM7 LMBL3_HUMAN l(3)mbt-like 3 (Drosophila) 236 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|skin(4)|stomach(1)|urinary_tract(1) 43 GBM - Glioblastoma multiforme(226;0.0266)|OV - Ovarian serous cystadenocarcinoma(155;0.154) GCTGGGCATCCTACCTGGAAG 0.532000 6 13 0 0 1 0 0 DPP6 1804 broad.mit.edu 37 7 154679399 154679399 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:154679399C>T ENST00000404039.1 + 23 2654 c.2067C>T c.(2065-2067)tcC>tcT p.S689S DPP6_ENST00000427557.1_Silent_p.S646S|DPP6_ENST00000377770.3_Silent_p.S753S|DPP6_ENST00000332007.3_Silent_p.S691S NM_001039350.1|NM_001936.3|NM_130797.2 NP_001034439.1|NP_001927.3|NP_570629.2 P42658 DPP6_HUMAN dipeptidyl-peptidase 6 753 cell death|proteolysis integral to membrane dipeptidyl-peptidase activity|serine-type peptidase activity NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 71 all_neural(206;0.181) all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204) OV - Ovarian serous cystadenocarcinoma(82;0.0562) CTGCGTTTTCCGAGAGGTACT 0.582000 140 333 0 0 1 0 0 IFNLR1 163702 broad.mit.edu 37 1 24485575 24485575 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:24485575G>A ENST00000327535.1 - 6 780 c.768C>T c.(766-768)ccC>ccT p.P256P IFNLR1_ENST00000374421.3_Silent_p.P256P|IFNLR1_ENST00000327575.2_Intron|IFNLR1_ENST00000374419.1_Silent_p.P173P NM_170743.3|NM_173064.2 NP_734464.1|NP_775087.1 interferon, lambda receptor 1 GCTGAAACCAGGGGTTCCCCA 0.582000 61 91 0 0 1 0 0 RYR2 6262 broad.mit.edu 37 1 237947660 237947660 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:237947660G>A ENST00000366574.2 + 90 12965 c.12648G>A c.(12646-12648)gcG>gcA p.A4216A RYR2_ENST00000360064.6_Silent_p.A4222A|RYR2_ENST00000542537.1_Silent_p.A4200A NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 4216 cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding p.A4214A(1) NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) AGAGGTCAGCGAATAAGGAAG 0.542000 25 84 0 0 1 0 0 PLEKHG4B 153478 broad.mit.edu 37 5 143578 143578 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:143578G>A ENST00000283426.6 + 3 753 c.703G>A c.(703-705)Gag>Aag p.E235K NM_052909.3 NP_443141.3 Q96PX9 PKH4B_HUMAN pleckstrin homology domain containing, family G (with RhoGef domain) member 4B 235 regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3) 11 all cancers(22;0.0253)|Lung(60;0.113) Kidney(1;0.119) GTCCTGTGCTGAGCTGACCCG 0.652000 33 50 0 0 1 0 0 VPS29 51699 broad.mit.edu 37 12 110933843 110933843 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:110933843G>A ENST00000549578.1 - 2 234 c.169C>T c.(169-171)Cat>Tat p.H57Y VPS29_ENST00000447578.2_5'UTR|VPS29_ENST00000360579.7_Missense_Mutation_p.H61Y|VPS29_ENST00000552130.2_5'UTR|VPS29_ENST00000546588.1_Missense_Mutation_p.H89Y|VPS29_ENST00000549970.1_5'UTR NM_016226.3 NP_057310.1 Q9UBQ0 VPS29_HUMAN vacuolar protein sorting 29 homolog (S. cerevisiae) 57 protein transport endosome membrane metal ion binding|phosphoserine phosphatase activity kidney(1)|large_intestine(1)|lung(1)|prostate(1) 4 CTCACAATATGAACATCACCA 0.398000 48 74 0 0 1 0 0 THSD1 55901 broad.mit.edu 37 13 52952712 52952712 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr13:52952712C>T ENST00000349258.4 - 4 1778 c.1234G>A c.(1234-1236)Gag>Aag p.E412K THSD1_ENST00000544466.1_Missense_Mutation_p.E86K|THSD1_ENST00000258613.4_Missense_Mutation_p.E465K NM_199263.2 NP_954872.1 Q9NS62 THSD1_HUMAN thrombospondin, type I, domain containing 1 465 extracellular region|integral to membrane|intracellular membrane-bounded organelle p.E465K(1) breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 Breast(56;0.000207)|Lung NSC(96;0.00145)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173) GBM - Glioblastoma multiforme(99;2.8e-08) ATATTCTCCTCGTCCGAGTTC 0.642000 34 64 0 0 1 0 0 PAX5 5079 broad.mit.edu 37 9 37015107 37015107 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:37015107G>A ENST00000358127.4 - 3 371 c.297C>T c.(295-297)atC>atT p.I99I PAX5_ENST00000414447.1_Silent_p.I99I|PAX5_ENST00000523241.1_Silent_p.I99I|PAX5_ENST00000523145.1_5'UTR|PAX5_ENST00000520281.1_Silent_p.I99I|PAX5_ENST00000377847.2_Silent_p.I99I|PAX5_ENST00000520154.1_Silent_p.I99I|PAX5_ENST00000377852.2_Silent_p.I99I|PAX5_ENST00000377853.2_Silent_p.I99I|PAX5_ENST00000446742.1_Intron|PAX5_ENST00000522003.1_5'UTR NM_016734.1 NP_057953.1 Q02548 PAX5_HUMAN paired box 5 99 Paired. I -> F (in Ref. 3; AAC35286). cell differentiation|humoral immune response|nervous system development|organ morphogenesis|spermatogenesis|transcription from RNA polymerase II promoter nucleus DNA binding p.?(42) PAX5/JAK2(18) NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(151)|kidney(1)|lung(10)|prostate(1)|skin(1) 171 all_cancers(2;3.46e-10)|Acute lymphoblastic leukemia(2;7.09e-56)|all_hematologic(2;6.65e-44) GBM - Glioblastoma multiforme(29;0.0108) TATATTCAGCGATTTTTTCCA 0.517000 """T, Mis, D, F, S""" """IGH@, ETV6, PML, FOXP1, ZNF521, ELN""" """NHL, ALL, B-ALL""" 129 285 0 0 1 0 0 BCAN 63827 broad.mit.edu 37 1 156618544 156618544 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:156618544C>T ENST00000329117.4 + 6 1290 c.954C>T c.(952-954)ccC>ccT p.P318P BCAN_ENST00000361588.5_Silent_p.P318P|RP11-284F21.7_ENST00000448869.1_RNA NM_021948.4 NP_068767.3 Q96GW7 PGCB_HUMAN brevican 318 Link 2. cell adhesion anchored to membrane|proteinaceous extracellular matrix hyaluronic acid binding|sugar binding cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 55 all_hematologic(923;0.088)|Hepatocellular(266;0.158) TCGTCACACCCAGCCAGCGCT 0.617000 132 156 0 0 1 0 0 RNF31 55072 broad.mit.edu 37 14 24619625 24619625 + Nonsense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr14:24619625C>T ENST00000324103.6 + 7 1485 c.1165C>T c.(1165-1167)Cga>Tga p.R389* RNF31_ENST00000559275.1_Nonsense_Mutation_p.R238*|RNF31_ENST00000382687.3_Nonsense_Mutation_p.R238* NM_017999.4 NP_060469.4 Q96EP0 RNF31_HUMAN ring finger protein 31 389 Polyubiquitin-binding. CD40 signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein linear polyubiquitination|T cell receptor signaling pathway CD40 receptor complex|internal side of plasma membrane|LUBAC complex ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(4)|skin(2)|soft_tissue(1) 39 GBM - Glioblastoma multiforme(265;0.00861) GGTGGATTCCCGAGATGCTGG 0.547000 34 91 0 0 1 0 0 VWA3B 200403 broad.mit.edu 37 2 98914486 98914486 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:98914486C>T ENST00000477737.1 + 24 3478 c.3274C>T c.(3274-3276)Ctg>Ttg p.L1092L VWA3B_ENST00000490947.2_3'UTR NM_144992.4 NP_659429.4 Q502W6 VWA3B_HUMAN von Willebrand factor A domain containing 3B 1092 NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 70 GCCCTGCCCGCTGCTCCAGGT 0.592000 56 100 0 0 1 0 0 RFPL2 10739 broad.mit.edu 37 22 32587086 32587086 + Silent SNP C C G rs5998288 TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr22:32587086C>G ENST00000400236.3 - 5 1745 c.540G>C c.(538-540)ctG>ctC p.L180L RFPL2_ENST00000400237.1_Silent_p.L270L|RFPL2_ENST00000248983.4_Silent_p.L180L|RFPL2_ENST00000248980.4_Silent_p.L209L|RFPL2_ENST00000489846.1_5'UTR NM_001098527.2 NP_001091997.2 O75678 RFPL2_HUMAN ret finger protein-like 2 270 B30.2/SPRY. zinc ion binding endometrium(2)|kidney(4)|large_intestine(3)|lung(9)|ovary(1)|skin(2) 21 GCTCTGTGGTCAGCTGGATCC 0.587000 10 152 0 0 1 0 0 DGAT2L6 347516 broad.mit.edu 37 X 69424308 69424308 + Silent SNP G G A rs140170619 byFrequency TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chrX:69424308G>A ENST00000333026.3 + 6 901 c.801G>A c.(799-801)cgG>cgA p.R267R NM_198512.1 NP_940914.1 Q6ZPD8 DG2L6_HUMAN diacylglycerol O-acyltransferase 2-like 6 267 lipid biosynthetic process endoplasmic reticulum membrane|integral to membrane acyltransferase activity breast(1)|endometrium(2)|large_intestine(3)|lung(5)|ovary(1) 12 TCCATGGCCGGGGCTTCACTC 0.498000 39 13 0 0 1 0 0 CLIP2 7461 broad.mit.edu 37 7 73803482 73803482 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:73803482G>A ENST00000223398.6 + 13 2940 c.2613G>A c.(2611-2613)ctG>ctA p.L871L CLIP2_ENST00000361545.5_Silent_p.L836L|CLIP2_ENST00000395060.1_Silent_p.L871L NM_003388.4 NP_003379.3 Q9UDT6 CLIP2_HUMAN CAP-GLY domain containing linker protein 2 871 microtubule associated complex breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|pancreas(1)|prostate(2)|skin(3) 30 ACGCCCTCCTGAAGGAGAAGC 0.637000 45 102 0 0 1 0 0 MIOS 54468 broad.mit.edu 37 7 7613348 7613348 + Silent SNP T T C TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:7613348T>C ENST00000340080.4 + 4 1663 c.1242T>C c.(1240-1242)atT>atC p.I414I MIOS_ENST00000405785.1_Silent_p.I414I NM_019005.3 NP_061878.3 Q9NXC5 MIO_HUMAN missing oocyte, meiosis regulator, homolog (Drosophila) 414 breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 GGAACCACATTTTAGCTGGAA 0.383000 66 104 0 0 1 0 0 SLC12A5 57468 broad.mit.edu 37 20 44685167 44685167 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr20:44685167C>T ENST00000454036.1 + 23 3219 c.3143C>T c.(3142-3144)tCc>tTc p.S1048F SLC12A5_ENST00000243964.3_Missense_Mutation_p.S1025F NM_001134771.1 NP_001128243.1 Q9H2X9 S12A5_HUMAN solute carrier family 12 (potassium/chloride transporter), member 5 1048 potassium ion transport|sodium ion transport integral to membrane potassium:chloride symporter activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1) 80 Myeloproliferative disorder(115;0.0122) Bumetanide(DB00887)|Potassium Chloride(DB00761) AGTCCTGTCTCCTCTGAGGGC 0.607000 20 56 0 0 1 0 0 SLC13A1 6561 broad.mit.edu 37 7 122755667 122755667 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:122755667C>T ENST00000194130.2 - 15 1732 c.1693G>A c.(1693-1695)Gtt>Att p.V565I SLC13A1_ENST00000539873.1_3'UTR NM_022444.3 NP_071889.2 Q9BZW2 S13A1_HUMAN solute carrier family 13 (sodium/sulfate symporter), member 1 565 integral to membrane|plasma membrane sodium:sulfate symporter activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 45 Succinic acid(DB00139) CCAAGCATAACCACAGCAACA 0.443000 34 105 0 0 1 0 0 ACTRT1 139741 broad.mit.edu 37 X 127185837 127185837 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chrX:127185837C>T ENST00000371124.3 - 1 545 c.349G>A c.(349-351)Gaa>Aaa p.E117K NM_138289.3 NP_612146.1 Q8TDG2 ACTT1_HUMAN actin-related protein T1 117 cytoplasm|cytoskeleton p.E117K(1) breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3) 34 TCTCGAATTTCCCTAGGATTC 0.488000 183 83 0 0 1 0 0 EGFR 1956 broad.mit.edu 37 7 55240706 55240706 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:55240706G>A ENST00000275493.2 + 17 2127 c.1950G>A c.(1948-1950)atG>atA p.M650I EGFR_ENST00000455089.1_Missense_Mutation_p.M605I|EGFR_ENST00000442591.1_Intron|EGFR_ENST00000454757.2_Missense_Mutation_p.M597I NM_005228.3 NP_005219.2 P00533 EGFR_HUMAN epidermal growth factor receptor 650 activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6) 14110 all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318) GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607) Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072) CCACTGGGATGGTGGGGGCCC 0.627000 8 """A, O, Mis""" """glioma, NSCLC""" NSCLC Lung Cancer, Familial Clustering of TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08) 36 87 0 0 1 0 0 TRPM8 79054 broad.mit.edu 37 2 234869453 234869453 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:234869453C>T ENST00000324695.4 + 12 1436 c.1396C>T c.(1396-1398)Ctc>Ttc p.L466F TRPM8_ENST00000433712.2_Missense_Mutation_p.L154F NM_024080.4 NP_076985.4 Q7Z2W7 TRPM8_HUMAN transient receptor potential cation channel, subfamily M, member 8 466 integral to membrane breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2) 66 Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224) Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108) Menthol(DB00825) GTTTACGGCTCTCATAAAGGA 0.428000 37 78 0 0 1 0 0 TGM2 7052 broad.mit.edu 37 20 36766627 36766627 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr20:36766627C>T ENST00000361475.2 - 10 1676 c.1503G>A c.(1501-1503)gaG>gaA p.E501E TGM2_ENST00000536724.1_Silent_p.E441E|TGM2_ENST00000536701.1_Silent_p.E420E NM_004613.2|NM_198951.1 NP_004604.2|NP_945189.1 P21980 TGM2_HUMAN transglutaminase 2 501 apoptotic cell clearance|peptide cross-linking|positive regulation of cell adhesion acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity endometrium(2)|large_intestine(11)|liver(1)|lung(7)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 Myeloproliferative disorder(115;0.00878) L-Glutamine(DB00130) AGACGTACTCCTCAGCGGTGT 0.597000 11 23 0 0 1 0 0 NIPAL4 348938 broad.mit.edu 37 5 156895739 156895739 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:156895739G>A ENST00000311946.7 + 4 646 c.530G>A c.(529-531)gGa>gAa p.G177E NIPAL4_ENST00000435489.2_Missense_Mutation_p.G158E|ADAM19_ENST00000430702.2_Intron NM_001099287.1 NP_001092757.1 Q0D2K0 NIPA4_HUMAN NIPA-like domain containing 4 177 integral to membrane receptor activity breast(3)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|prostate(1)|skin(1) 22 GTGGCTGCTGGAGAAGTTGCC 0.522000 52 95 0 0 1 0 0 ST6GAL2 84620 broad.mit.edu 37 2 107459915 107459915 + Silent SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:107459915C>T ENST00000409382.3 - 2 1129 c.519G>A c.(517-519)gtG>gtA p.V173V ST6GAL2_ENST00000409087.3_Silent_p.V173V|ST6GAL2_ENST00000361686.4_Silent_p.V173V NM_001142351.1 NP_001135823.1 Q96JF0 SIAT2_HUMAN ST6 beta-galactosamide alpha-2,6-sialyltranferase 2 173 growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation Golgi cisterna membrane|integral to Golgi membrane beta-galactoside alpha-2,6-sialyltransferase activity autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 65 GCCTCTTCTTCACCCGCCTCC 0.667000 62 140 0 0 1 0 0 CHRNB2 1141 broad.mit.edu 37 1 154544319 154544319 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:154544319G>A ENST00000368476.3 + 5 1284 c.1020G>A c.(1018-1020)ctG>ctA p.L340L NM_000748.2 NP_000739.1 P17787 ACHB2_HUMAN cholinergic receptor, nicotinic, beta 2 (neuronal) 340 B cell activation|behavioral response to nicotine|calcium ion transport|central nervous system projection neuron axonogenesis|lateral geniculate nucleus development|locomotory behavior|membrane depolarization|memory|negative regulation of action potential|optic nerve morphogenesis|positive regulation of B cell proliferation|positive regulation of dopamine secretion|regulation of circadian sleep/wake cycle, REM sleep|regulation of dendrite morphogenesis|regulation of dopamine metabolic process|regulation of synaptogenesis|response to cocaine|response to ethanol|response to hypoxia|sensory perception of pain|sensory perception of sound|smooth muscle contraction|social behavior|synaptic transmission involved in micturition|synaptic transmission, cholinergic|vestibulocochlear nerve development|visual learning|visual perception cell junction|external side of plasma membrane|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity cervix(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|skin(1)|urinary_tract(3) 28 all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088) LUSC - Lung squamous cell carcinoma(543;0.185) Nicotine(DB00184) TCGTCTTCCTGGAGAAGCTGC 0.677000 28 24 0 0 1 0 0 ZXDC 79364 broad.mit.edu 37 3 126180846 126180846 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:126180846G>A ENST00000389709.3 - 6 1712 c.1659C>T c.(1657-1659)ctC>ctT p.L553L ZXDC_ENST00000336332.5_Silent_p.L553L NM_025112.4 NP_079388.3 Q2QGD7 ZXDC_HUMAN ZXD family zinc finger C 553 positive regulation of transcription, DNA-dependent nucleus C2H2 zinc finger domain binding|identical protein binding|LRR domain binding|nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(1) 17 GBM - Glioblastoma multiforme(114;0.155) TATTAGCAGGGAGGTTCCCTC 0.577000 34 58 0 0 1 0 0 VIT 5212 broad.mit.edu 37 2 37041370 37041370 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:37041370G>A ENST00000379242.3 + 16 2250 c.1948G>A c.(1948-1950)Gag>Aag p.E650K VIT_ENST00000404084.1_Missense_Mutation_p.E587K|VIT_ENST00000379241.3_Missense_Mutation_p.E613K|VIT_ENST00000497382.1_Missense_Mutation_p.E304K|VIT_ENST00000401530.1_Missense_Mutation_p.E614K|VIT_ENST00000389975.3_Missense_Mutation_p.E635K NM_053276.3 NP_444506.2 Q6UXI7 VITRN_HUMAN vitrin 635 VWFA 2. proteinaceous extracellular matrix autonomic_ganglia(1)|breast(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 57 all_hematologic(82;0.248) TGCCCAAGAGGAGCTAGAAGT 0.512000 40 68 0 0 1 0 0 MUC5B 727897 broad.mit.edu 37 11 1262847 1262847 + Nonsense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:1262847G>A ENST00000447027.1 + 31 4804 c.4746G>A c.(4744-4746)tgG>tgA p.W1582* MUC5B_ENST00000529681.1_Nonsense_Mutation_p.W1579* Q9HC84 MUC5B_HUMAN mucin 5B, oligomeric mucus/gel-forming 1579 7 X Cys-rich subdomain repeats. cell adhesion extracellular region extracellular matrix structural constituent|protein binding cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1) 137 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) GCAGGAACTGGGAGCAGGAGG 0.622000 12 10 0 0 1 0 0 PDZD8 118987 broad.mit.edu 37 10 119043381 119043381 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:119043381G>A ENST00000334464.5 - 5 3102 c.2863C>T c.(2863-2865)Cgc>Tgc p.R955C NM_173791.3 NP_776152.1 Q8NEN9 PDZD8_HUMAN PDZ domain containing 8 955 intracellular signal transduction metal ion binding kidney(3)|large_intestine(8)|lung(24)|upper_aerodigestive_tract(3) 38 Colorectal(252;0.19) all cancers(201;0.0121) TCAGAAAGGCGAGTTTTAGAG 0.433000 7 387 0 0 1 0 0 PKDREJ 10343 broad.mit.edu 37 22 46655146 46655146 + Silent SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr22:46655146G>A ENST00000253255.5 - 1 4073 c.4074C>T c.(4072-4074)ttC>ttT p.F1358F NM_006071.1 NP_006062.1 Q9NTG1 PKDRE_HUMAN polycystin (PKD) family receptor for egg jelly 1358 acrosome reaction|neuropeptide signaling pathway integral to membrane calcium ion binding|ion channel activity NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2) 73 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.00459) CATCTATAAAGAAAAAGTCTT 0.398000 37 78 0 0 1 0 0 MASP1 5648 broad.mit.edu 37 3 186974582 186974582 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:186974582G>A ENST00000337774.5 - 5 1003 c.614C>T c.(613-615)cCt>cTt p.P205L MASP1_ENST00000296280.6_Missense_Mutation_p.P205L|MASP1_ENST00000392470.2_Missense_Mutation_p.P179L|MASP1_ENST00000392472.2_Missense_Mutation_p.P92L|MASP1_ENST00000495249.1_Intron|MASP1_ENST00000169293.6_Missense_Mutation_p.P205L NM_001879.5 NP_001870.3 P48740 MASP1_HUMAN mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor) 205 CUB 2.|Interaction with FCN2. complement activation, lectin pathway|negative regulation of complement activation|proteolysis extracellular space calcium ion binding|calcium-dependent protein binding|protein binding|protein homodimerization activity|serine-type endopeptidase activity p.P205H(3) NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1) 60 all_cancers(143;5.33e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;3.49e-18) GBM - Glioblastoma multiforme(93;0.0366) CTTGGGGTAAGGGTTTGGGAA 0.493000 32 105 0 0 1 0 0 SH3D19 152503 broad.mit.edu 37 4 152096385 152096385 + Missense_Mutation SNP G G A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:152096385G>A ENST00000409598.4 - 7 1298 c.131C>T c.(130-132)cCa>cTa p.P44L SH3D19_ENST00000455740.1_Missense_Mutation_p.P44L|SH3D19_ENST00000427414.2_Missense_Mutation_p.P44L|SH3D19_ENST00000304527.4_Missense_Mutation_p.P44L|SH3D19_ENST00000409252.2_Missense_Mutation_p.P44L|SH3D19_ENST00000424281.1_Missense_Mutation_p.P44L|SH3D19_ENST00000514152.1_Missense_Mutation_p.P44L Q5HYK7 SH319_HUMAN SH3 domain containing 19 44 cellular membrane organization|positive regulation of membrane protein ectodomain proteolysis|post-Golgi vesicle-mediated transport cytosol|Golgi apparatus|nucleus|plasma membrane proline-rich region binding autonomic_ganglia(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(1)|skin(3)|urinary_tract(1) 20 all_hematologic(180;0.093) Acute lymphoblastic leukemia(8;0.138) AGTAGGCTTTGGAGGAAGTGA 0.458000 48 134 0 0 1 0 0 SVEP1 79987 broad.mit.edu 37 9 113163207 113163207 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:113163207C>T ENST00000401783.2 - 40 10085 c.9749G>A c.(9748-9750)gGa>gAa p.G3250E SVEP1_ENST00000374469.1_Missense_Mutation_p.G3227E|SVEP1_ENST00000297826.5_Missense_Mutation_p.G1176E NM_153366.3 NP_699197.3 Q4LDE5 SVEP1_HUMAN sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 3250 Sushi 31. cell adhesion cytoplasm|extracellular region|membrane calcium ion binding NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4) 147 AACCACAAATCCATGTTCTGG 0.408000 11 45 0 0 1 0 0 LRCH4 4034 broad.mit.edu 37 7 100179403 100179403 + Missense_Mutation SNP C C T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:100179403C>T ENST00000310300.6 - 4 647 c.595G>A c.(595-597)Gaa>Aaa p.E199K LRCH4_ENST00000497245.1_5'UTR NM_002319.3 NP_002310.2 O75427 LRCH4_HUMAN leucine-rich repeats and calponin homology (CH) domain containing 4 199 nervous system development PML body protein binding NS(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 23 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) TTCTCACCTTCGGGCAGCGTA 0.567000 35 115 0 0 1 0 0 NADK 65220 broad.mit.edu 37 1 1688592 1688594 + In_Frame_Del DEL AGG AGG - TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:1688592_1688594delAGG ENST00000344463.4 - 6 952_954 c.731_733delCCT c.(730-735)ggg>g p.AW244del NADK_ENST00000492768.1_Intron|NADK_ENST00000342348.5_Intron|NADK_ENST00000341991.3_Intron|NADK_ENST00000341426.5_Intron|NADK_ENST00000378625.1_In_Frame_Del_p.AW244del O95544 NADK_HUMAN NAD kinase 131 ATP metabolic process|NAD metabolic process|water-soluble vitamin metabolic process cytosol ATP binding|metal ion binding|NAD+ kinase activity|protein binding NS(1)|autonomic_ganglia(1)|endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)|stomach(1)|urinary_tract(1) 17 all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;5.61e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128) Epithelial(90;8.75e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.33e-23)|GBM - Glioblastoma multiforme(42;1.35e-07)|Colorectal(212;0.000203)|COAD - Colon adenocarcinoma(227;0.000225)|Kidney(185;0.00265)|STAD - Stomach adenocarcinoma(132;0.00655)|BRCA - Breast invasive adenocarcinoma(365;0.00855)|KIRC - Kidney renal clear cell carcinoma(229;0.0382)|Lung(427;0.207) TGTGCACCCCAGGCCCCCTTCCC 0.626 6 11 --- --- --- --- CACHD1 57685 broad.mit.edu 37 1 65157065 65157066 + Frame_Shift_Ins INS - - G TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:65157065_65157066insG ENST00000371073.2 + 27 3646_3647 c.3646_3647insG c.(3646-3648)gtcfs p.V1216fs CACHD1_ENST00000290039.5_Frame_Shift_Ins_p.V1165fs|CACHD1_ENST00000495994.1_3'UTR Q5VU97 CAHD1_HUMAN cache domain containing 1 1216 calcium ion transport integral to membrane breast(4)|endometrium(3)|kidney(3)|large_intestine(20)|lung(14)|ovary(2)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 55 CAATGACCCCTTGTCAGCCGGG 0.510 17 126 --- --- --- --- RP11-202K23.1 0 broad.mit.edu 37 1 102799499 102799500 + RNA INS - - AC rs143996633 by1000genomes TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:102799499_102799500insAC ENST00000447916.1 - 0 339 CAGGGAAacatacacacacaca 0.356 3 4 --- --- --- --- RP5-1125M8.2 0 broad.mit.edu 37 1 111866258 111866258 + RNA DEL A A - TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:111866258delA ENST00000426321.1 - 0 148 tacctgacctaccattcattt 0.443 2 4 --- --- --- --- LOC101927209 101927209 broad.mit.edu 37 1 142657355 142657356 + RNA INS - - T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:142657355_142657356insT ENST00000369381.2 - 0 2507 RP11-417J8.3_ENST00000426408.1_lincRNA TGCCTGTTCCCTGGCCCCCTCC 0.589 3 6 --- --- --- --- SRGAP2B 647135 broad.mit.edu 37 1 143989141 143989147 + RNA DEL AAGGCTC AAGGCTC - rs67935580 TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:143989141_143989147delAAGGCTC ENST00000467933.1 + 0 915 gtggagccctaaggctcaagtgtgctt 0.498 4 4 --- --- --- --- LINC00869 57234 broad.mit.edu 37 1 149285546 149285547 + RNA INS - - A rs144216017 by1000genomes TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:149285546_149285547insA ENST00000424684.1 + 0 254 NR_046136.1|NR_046138.1|NR_046139.1 ttctgtctctcaaaaaaaaTGC 0.525 5 6 --- --- --- --- RGL1 23179 broad.mit.edu 37 1 183881293 183881294 + In_Frame_Ins INS - - TGG TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:183881293_183881294insTGG ENST00000304685.3 + 16 2206_2207 c.1745_1746insTGG c.(1744-1746)tgg>tTGGgg p.582_582W>LG RGL1_ENST00000360851.3_In_Frame_Ins_p.547_547W>LG|RGL1_ENST00000539189.1_In_Frame_Ins_p.518_518W>LG|RGL1_ENST00000367531.1_In_Frame_Ins_p.582_582W>LG|RGL1_ENST00000536277.1_In_Frame_Ins_p.545_545W>LG NM_015149.3 NP_055964.3 Q9NZL6 RGL1_HUMAN ral guanine nucleotide dissociation stimulator-like 1 547 Ser-rich. cellular lipid metabolic process|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction intracellular protein binding|Ral guanyl-nucleotide exchange factor activity breast(5)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(17)|ovary(4)|prostate(3)|stomach(1) 51 AGCGGGAGCTCTGGTGAAAGCA 0.554 53 123 --- --- --- --- LINC01036 104169671 broad.mit.edu 37 1 187101188 187101188 + RNA DEL A A - TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:187101188delA ENST00000458683.1 + 0 105 gccacagaataaaataacaag 0.308 2 4 --- --- --- --- RP11-373J16.1 0 broad.mit.edu 37 1 188917388 188917389 + RNA INS - - T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:188917388_188917389insT ENST00000445072.1 + 0 239 agctaattttgttttttgtaga 0.416 2 4 --- --- --- --- CTD-2090I13.1 0 broad.mit.edu 37 1 227594624 227594625 + RNA INS - - AT TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr1:227594624_227594625insAT ENST00000445817.1 + 0 210 aaaaacagtagatattggtgtg 0.386 2 4 --- --- --- --- ADD2 119 broad.mit.edu 37 2 70890601 70890602 + Frame_Shift_Ins INS - - C TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:70890601_70890602insC ENST00000264436.3 - 16 2580_2581 c.2136_2137insG c.(2134-2139)ccccttfs p.L713fs ADD2_ENST00000407644.2_Frame_Shift_Ins_p.L713fs NM_001617.3 NP_001608.1 P35612 ADDB_HUMAN adducin 2 (beta) 713 Interaction with calmodulin (Potential). actin filament bundle assembly|barbed-end actin filament capping|positive regulation of protein binding cytoplasm|F-actin capping protein complex|plasma membrane actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2) 36 TTCAGGAAGGAGGGGGTTCGGA 0.540 106 243 --- --- --- --- ANKRD20A8P 729171 broad.mit.edu 37 2 95504830 95504831 + RNA INS - - T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr2:95504830_95504831insT ENST00000432432.2 - 0 906 NR_040113.1 TGTTGTTGTTGTTTTGGTTTGG 0.351 2 4 --- --- --- --- XPC 7508 broad.mit.edu 37 3 14219966 14219968 + Splice_Site DEL CCT CCT - rs72561774 TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:14219966_14219968delCCT ENST00000285021.7 - 1 315_317 c.103_splice c.e1+1 p.ED34_splice XPC_ENST00000449060.2_Splice_Site_p.ED34_splice|LSM3_ENST00000306024.3_5'UTR NM_001145769.1|NM_004628.4 NP_001139241.1|NP_004619.3 Q01831 XPC_HUMAN xeroderma pigmentosum, complementation group C 34 Glu-rich (acidic).|Poly-Glu. nucleotide-excision repair, DNA damage recognition|nucleotide-excision repair, DNA damage removal cytoplasm|nucleoplasm|XPC complex bubble DNA binding|damaged DNA binding|loop DNA binding|protein binding|single-stranded DNA binding p.E34delE(1) NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 TCGCTCTCACCCTCCTCCTCCTC 0.734 """Mis, N, F, S""" """skin basal cell, skin squamous cell, melanoma""" Nucleotide excision repair (NER) Xeroderma Pigmentosum 7 84 --- --- --- --- LINC00693 645206 broad.mit.edu 37 3 28699280 28699282 + RNA DEL TTT TTT - rs140798140 TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr3:28699280_28699282delTTT ENST00000432518.2 + 0 809 LINC00693_ENST00000445077.1_RNA|LINC00693_ENST00000443912.1_RNA NR_038840.1 AACTAAAGGCttttttttttttt 0.365 2 4 --- --- --- --- KDR 3791 broad.mit.edu 37 4 55984850 55984850 + Frame_Shift_Del DEL C C - TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:55984850delC ENST00000263923.4 - 3 574 c.279delG c.(277-279)gtfs p.V93fs NM_002253.2 NP_002244.1 P35968 VGFR2_HUMAN kinase insert domain receptor (a type III receptor tyrosine kinase) 93 Ig-like C2-type 1. angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape integral to plasma membrane ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 135 all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101) Epithelial(7;0.189) Sorafenib(DB00398)|Sunitinib(DB01268) CATTTCCGATCACTTTTGGAA 0.468 Mis """NSCLC, angiosarcoma""" TSP Lung(20;0.16) 29 107 --- --- --- --- SRD5A3 79644 broad.mit.edu 37 4 56230278 56230278 + Frame_Shift_Del DEL A A - TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:56230278delA ENST00000264228.4 + 3 630 c.402delA c.(400-402)gtfs p.V134fs SRD5A3_ENST00000514398.1_3'UTR|SRD5A3-AS1_ENST00000433175.2_RNA NM_024592.4 NP_078868.1 Q9H8P0 PORED_HUMAN steroid 5 alpha-reductase 3 134 androgen biosynthetic process|dolichol metabolic process|dolichol-linked oligosaccharide biosynthetic process|polyprenol catabolic process endoplasmic reticulum membrane|integral to membrane 3-oxo-5-alpha-steroid 4-dehydrogenase activity|oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor cervix(1)|large_intestine(3)|lung(6)|prostate(1)|skin(1) 12 all_cancers(7;0.0308)|all_lung(4;0.00195)|Lung NSC(11;0.00431)|all_epithelial(27;0.0425)|Glioma(25;0.08)|all_neural(26;0.101) Epithelial(7;0.0179) TAGTGCTAGTATTTCTGTGGC 0.458 73 133 --- --- --- --- SYNPO2 171024 broad.mit.edu 37 4 119953026 119953027 + Frame_Shift_Ins INS - - C TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:119953026_119953027insC ENST00000307142.4 + 4 3292_3293 c.3096_3097insC c.(3094-3099)tcctccfs p.S1033fs SYNPO2_ENST00000448416.2_Intron|SYNPO2_ENST00000429713.2_Frame_Shift_Ins_p.S1033fs|SYNPO2_ENST00000434046.2_Frame_Shift_Ins_p.S1033fs NM_133477.2 NP_597734.2 Q9UMS6 SYNP2_HUMAN synaptopodin 2 1033 nucleus|Z disc 14-3-3 protein binding|actin binding|muscle alpha-actinin binding breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 CCTATACCTCTCCTCCTTCCTT 0.564 33 62 --- --- --- --- RP11-427M20.1 0 broad.mit.edu 37 4 134850005 134850006 + RNA INS - - AT rs113228325 by1000genomes TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:134850005_134850006insAT ENST00000507844.1 - 0 223 ATTAGTATATCATGTCTGGATA 0.312 4 3 --- --- --- --- LOC728339 728339 broad.mit.edu 37 4 190832284 190832284 + RNA DEL G G - TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr4:190832284delG ENST00000511785.1 - 0 231 TTATCAATATGGAAAAAAAAA 0.328 2 4 --- --- --- --- UTP15 84135 broad.mit.edu 37 5 72864345 72864345 + Frame_Shift_Del DEL T T - TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr5:72864345delT ENST00000296792.4 + 4 539 c.284delT c.(283-285)ctfs p.L95fs UTP15_ENST00000508491.1_Frame_Shift_Del_p.L76fs|UTP15_ENST00000543251.1_5'UTR NM_032175.2 NP_115551.2 Q8TED0 UTP15_HUMAN UTP15, U3 small nucleolar ribonucleoprotein, homolog (S. cerevisiae) 95 rRNA processing cytoplasm|nucleolus endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(2) 15 Lung NSC(167;0.00405)|Ovarian(174;0.0129) OV - Ovarian serous cystadenocarcinoma(47;7.76e-55) GGTAGATTGCTTGTGGCTGGC 0.428 47 89 --- --- --- --- SERPINB9P1 221756 broad.mit.edu 37 6 2861824 2861825 + RNA INS - - A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:2861824_2861825insA ENST00000545177.2 - 0 135 gaacccaccagaaaaaaaaaac 0.441 2 4 --- --- --- --- NQO2 4835 broad.mit.edu 37 6 2996594 2996594 + RNA DEL A A - TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:2996594delA ENST00000456189.1 - 0 127 RP1-90J20.8_ENST00000429319.1_RNA acaaatagacaaacaacccaa 0.408 2 4 --- --- --- --- MCM3 4172 broad.mit.edu 37 6 52144263 52144263 + Frame_Shift_Del DEL A A - rs61753602 byFrequency TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:52144263delA ENST00000596288.1 - 5 828 c.801delT c.(799-801)gafs p.D269fs MCM3_ENST00000419835.2_Frame_Shift_Del_p.D178fs|MCM3_ENST00000229854.7_Frame_Shift_Del_p.D224fs NM_002388.4 NP_002379.3 P25205 MCM3_HUMAN minichromosome maintenance complex component 3 224 cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle alpha DNA polymerase:primase complex|centrosome|MCM complex|perinuclear region of cytoplasm ATP binding|DNA binding|helicase activity|protein binding endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 20 Lung NSC(77;0.0931) CCAAGTCATCATCCAGAATGA 0.587 76 230 --- --- --- --- LOC101927640 101927640 broad.mit.edu 37 6 112615698 112615698 + RNA DEL A A - rs112893146 TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr6:112615698delA ENST00000587816.1 + 0 111 RP11-506B6.6_ENST00000590584.1_RNA|RP11-506B6.6_ENST00000585504.1_RNA|RP11-506B6.6_ENST00000585611.1_RNA|RP11-506B6.6_ENST00000590673.1_RNA|RP11-506B6.6_ENST00000433684.2_RNA|RP11-506B6.6_ENST00000590804.1_RNA|RP11-506B6.6_ENST00000585450.1_RNA ggaaaaaaataaaaaaaaaaa 0.343 2 4 --- --- --- --- AC073316.1 0 broad.mit.edu 37 7 3337370 3337371 + RNA INS - - AGA rs79393726 by1000genomes TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:3337370_3337371insAGA ENST00000437354.1 - 0 224 ggaggaggaggagaagaagaag 0.436 3 6 --- --- --- --- MACC1 346389 broad.mit.edu 37 7 20198832 20198832 + Frame_Shift_Del DEL A A - TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:20198832delA ENST00000400331.5 - 5 1460 c.1152delT c.(1150-1152)ttfs p.F384fs MACC1_ENST00000332878.4_Frame_Shift_Del_p.F384fs|MACC1_ENST00000589011.1_Frame_Shift_Del_p.F384fs NM_182762.3 NP_877439.3 Q6ZN28 MACC1_HUMAN metastasis associated in colon cancer 1 384 positive regulation of cell division|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus|plasma membrane growth factor activity endometrium(1)|kidney(1)|large_intestine(15)|lung(12)|ovary(2)|prostate(1)|skin(3)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(1) 39 AAACAACAGTAAAACTGGGAT 0.383 30 58 --- --- --- --- AC009262.2 0 broad.mit.edu 37 7 34264840 34264840 + RNA DEL C C - TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:34264840delC ENST00000446484.1 + 0 93 gaaggagaagccagtgggaga 0.463 2 4 --- --- --- --- AC003088.1 0 broad.mit.edu 37 7 110169519 110169521 + RNA DEL TGG TGG - rs139244987 TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:110169519_110169521delTGG ENST00000435466.1 - 0 166 TGGTGGCTTCTGGTGGTTGGTTC 0.443 3 3 --- --- --- --- TRBC2 28638 broad.mit.edu 37 7 142499728 142499751 + RNA DEL GTGTGAGGGAGGCCAGAGCCACCT GTGTGAGGGAGGCCAGAGCCACCT - rs115597694 by1000genomes TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr7:142499728_142499751delGTGTGAGGGAGGCCAGAGCCACCT ENST00000466254.1 + 0 405 GGACACAGGGGTGTGAGGGAGGCCAGAGCCACCTGTGCACAGGT 0.545 7 426 --- --- --- --- LOC101927815 101927815 broad.mit.edu 37 8 2577925 2577925 + RNA DEL T T - TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:2577925delT ENST00000520570.1 - 0 88 ctttgacacctttttccaatt 0.483 2 4 --- --- --- --- KCNB2 9312 broad.mit.edu 37 8 73848821 73848822 + Frame_Shift_Ins INS - - T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr8:73848821_73848822insT ENST00000523207.1 + 3 1819_1820 c.1231_1232insT c.(1231-1233)tccfs p.S411fs NM_004770.2 NP_004761.2 Q92953 KCNB2_HUMAN potassium voltage-gated channel, Shab-related subfamily, member 2 411 regulation of smooth muscle contraction voltage-gated potassium channel complex delayed rectifier potassium channel activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1) 85 Breast(64;0.137) Epithelial(68;0.105) GGTTATTGCCCTTCCTATCCCA 0.441 44 101 --- --- --- --- LINC01410 103352539 broad.mit.edu 37 9 66466004 66466005 + RNA INS - - A rs139328647 TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:66466004_66466005insA ENST00000424345.1 + 0 637_638 GATTCTTCAGTAAAAAAAAGTA 0.307 3 6 --- --- --- --- RP11-764K9.1 0 broad.mit.edu 37 9 68399323 68399323 + RNA DEL G G - TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr9:68399323delG ENST00000417843.2 - 0 2149 TCTTGCTGTTGGGGTTGGTGG 0.438 3 5 --- --- --- --- TMEM254-AS1 219347 broad.mit.edu 37 10 81838312 81838312 + RNA DEL G G - TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:81838312delG ENST00000412298.1 - 0 169 TMEM254-AS1_ENST00000432070.2_RNA|TMEM254-AS1_ENST00000448729.2_RNA NR_027428.1 GGGCCAGACAGGGAGACTCGC 0.662 2 4 --- --- --- --- RP11-34D15.2 0 broad.mit.edu 37 10 102104565 102104576 + RNA DEL GAGCTTGGCTGT GAGCTTGGCTGT - TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr10:102104565_102104576delGAGCTTGGCTGT ENST00000429420.1 - 0 103 CAAAATTAAGGAGCTTGGCTGTAAACAAAATA 0.363 46 210 --- --- --- --- LGR4 55366 broad.mit.edu 37 11 27390692 27390693 + Splice_Site INS - - A TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:27390692_27390693insA ENST00000379214.4 - 18 2023 c.e18-2 LGR4_ENST00000389858.4_Splice_Site NM_018490.2 NP_060960.2 Q9BXB1 LGR4_HUMAN leucine-rich repeat containing G protein-coupled receptor 4 integral to membrane|plasma membrane protein-hormone receptor activity NS(3)|breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(10)|ovary(1) 32 TAAAAGCACCTAAAAAAAACAC 0.312 14 44 --- --- --- --- RP11-50B3.2 0 broad.mit.edu 37 11 126039164 126039164 + RNA DEL G G - TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr11:126039164delG ENST00000532357.1 + 0 132 GACTTTATTTGACACTTAGTA 0.358 2 4 --- --- --- --- C12orf39 80763 broad.mit.edu 37 12 21680708 21680708 + Frame_Shift_Del DEL G G - TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:21680708delG ENST00000256969.2 + 4 359 c.193delG c.(193-195)acfs p.D65fs NM_030572.2 NP_085049.1 Q9BT56 SPXN_HUMAN chromosome 12 open reading frame 39 65 extracellular region|nucleus|transport vesicle endometrium(3)|large_intestine(1)|lung(2)|urinary_tract(1) 7 GGACCTCTCCGACCGGCCACT 0.667 2 4 --- --- --- --- SMARCC2 6601 broad.mit.edu 37 12 56563627 56563629 + In_Frame_Del DEL CTT CTT - TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:56563627_56563629delCTT ENST00000394023.3 - 24 2584_2586 c.2479_2481delAAG c.(2479-2481)del p.K827del SMARCC2_ENST00000267064.4_In_Frame_Del_p.K796del|RP11-977G19.5_ENST00000553176.1_RNA|SMARCC2_ENST00000347471.4_In_Frame_Del_p.K827del|SMARCC2_ENST00000550164.1_In_Frame_Del_p.K827del NM_001130420.1 NP_001123892.1 Q8TAQ2 SMRC2_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2 796 Glu-rich. chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex DNA binding|protein binding|transcription coactivator activity breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1) 41 OV - Ovarian serous cystadenocarcinoma(18;0.123) TCTCCTCATCCTTCTTGGGAGCC 0.522 48 112 --- --- --- --- RP11-511B23.2 0 broad.mit.edu 37 12 93517619 93517619 + RNA DEL A A - TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:93517619delA ENST00000550324.1 - 0 85 RP11-511B23.2_ENST00000549930.1_RNA aaaaataaataaaaaaaaaaG 0.393 2 4 --- --- --- --- POLR3B 55703 broad.mit.edu 37 12 106853058 106853058 + Frame_Shift_Del DEL G G - TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr12:106853058delG ENST00000228347.4 + 22 2704 c.2482delG c.(2482-2484)tafs p.V828fs POLR3B_ENST00000539066.1_Frame_Shift_Del_p.V770fs NM_018082.5 NP_060552.4 Q9NW08 RPC2_HUMAN polymerase (RNA) III (DNA directed) polypeptide B 828 innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter nucleoplasm DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2) 57 ACAAGTGCTTGTAAATAAGTC 0.388 11 139 --- --- --- --- LINC00558 100861552 broad.mit.edu 37 13 54398280 54398280 + RNA DEL A A - TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr13:54398280delA ENST00000569422.1 + 0 75 NR_047488.1 attcaggtataatctttgact 0.343 2 4 --- --- --- --- RP11-509A17.3 0 broad.mit.edu 37 15 20561624 20561625 + RNA INS - - TGTGTA rs58063337 TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr15:20561624_20561625insTGTGTA ENST00000557528.1 + 0 760 gtgtgtgtgtgtgtgtgtgttt 0.520 6 2 --- --- --- --- TARSL2 123283 broad.mit.edu 37 15 102249097 102249125 + Splice_Site DEL CTGTGCTGGACACTGCTCTAAAAAGAAGA CTGTGCTGGACACTGCTCTAAAAAGAAGA - rs61736292 byFrequency TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr15:102249097_102249125delCTGTGCTGGACACTGCTCTAAAAAGAAGA ENST00000335968.3 - 6 1029_1045 c.812_splice c.e6-1 p.S271_splice NM_152334.2 NP_689547.2 A2RTX5 SYTC2_HUMAN threonyl-tRNA synthetase-like 2 271 threonyl-tRNA aminoacylation cytoplasm ATP binding|threonine-tRNA ligase activity breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(14)|ovary(2)|skin(1)|urinary_tract(1) 29 Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505) OV - Ovarian serous cystadenocarcinoma(32;0.000268)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23) GCTGACAATTCTGTGCTGGACACTGCTCTAAAAAGAAGAGCAGAGAACC 0.410 8 91 --- --- --- --- HERC2P4 100289574 broad.mit.edu 37 16 32118199 32118200 + RNA DEL AT AT - TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr16:32118199_32118200delAT ENST00000564145.1 - 0 456 acaaaataacataaaccgggtg 0.386 4 4 --- --- --- --- SLC13A5 284111 broad.mit.edu 37 17 6604446 6604453 + Splice_Site DEL CTACAAGA CTACAAGA - TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:6604446_6604453delCTACAAGA ENST00000433363.2 - 6 950 c.e6-1 SLC13A5_ENST00000381074.4_Splice_Site|SLC13A5_ENST00000293800.6_Splice_Site|SLC13A5_ENST00000573648.1_Splice_Site NM_177550.3 NP_808218.1 Q86YT5 S13A5_HUMAN solute carrier family 13 (sodium-dependent citrate transporter), member 5 integral to membrane citrate transmembrane transporter activity breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|prostate(5)|skin(3)|urinary_tract(1) 26 AGGAAACAACCTACAAGAAGACACCGGC 0.611 7 34 --- --- --- --- CCDC42 146849 broad.mit.edu 37 17 8638781 8638785 + Frame_Shift_Del DEL ATCTC ATCTC - TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:8638781_8638785delATCTC ENST00000293845.3 - 5 863_867 c.637_641delGAGAT c.(637-642)cfs p.EI213fs CCDC42_ENST00000539522.2_Intron NM_144681.2 NP_653282.2 Q96M95 CCD42_HUMAN coiled-coil domain containing 42 213 Missing (in Ref. 2; AAH29224). kidney(1)|large_intestine(4)|lung(3)|ovary(1) 9 TTGCTGCAGGATCTCATCATCCTTT 0.634 34 93 --- --- --- --- CCDC144NL-AS1 440416 broad.mit.edu 37 17 20851970 20851970 + RNA DEL T T - TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:20851970delT ENST00000582583.1 + 0 123 RP11-344E13.3_ENST00000580056.1_RNA|RP11-344E13.3_ENST00000433763.2_RNA|RP11-344E13.3_ENST00000583481.1_RNA|RP11-344E13.3_ENST00000439794.2_RNA|RP11-344E13.3_ENST00000423473.2_RNA|RP11-344E13.3_ENST00000437829.1_RNA ATGGACGTTATTTTAATGATA 0.408 2 4 --- --- --- --- AC004231.2 0 broad.mit.edu 37 17 39130721 39130724 + RNA DEL TCTT TCTT - rs12941907 by1000genomes TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:39130721_39130724delTCTT ENST00000418393.1 + 0 385 tttctttctctctttctttctttc 0.377 2 4 --- --- --- --- LINC00854 100874261 broad.mit.edu 37 17 41381913 41381914 + RNA INS - - T rs11403368 TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:41381913_41381914insT ENST00000433702.2 - 0 14 NR_047479.1 accctgatctatcatcgggagg 0.550 7 65 --- --- --- --- NGFR 4804 broad.mit.edu 37 17 47587951 47587955 + Frame_Shift_Del DEL ACAAC ACAAC - TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr17:47587951_47587955delACAAC ENST00000172229.3 + 4 871_875 c.746_750delACAAC c.(745-750)gfs p.DN249fs NGFR_ENST00000504201.1_Frame_Shift_Del_p.DN155fs|RP5-1029K10.2_ENST00000514506.1_RNA NM_002507.3 NP_002498.1 P08138 TNR16_HUMAN nerve growth factor receptor 249 anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|membrane protein intracellular domain proteolysis|negative regulation of axonogenesis|negative regulation of cell cycle|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis cell surface|cytosol|endosome|extracellular region|integral to plasma membrane|nucleoplasm central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1) 17 all_cancers(4;1.45e-13)|Breast(4;6.34e-28)|all_epithelial(4;4.95e-17) GGCACCACCGACAACCTCATCCCTG 0.605 32 106 --- --- --- --- ZNF521 25925 broad.mit.edu 37 18 22901963 22901983 + Splice_Site DEL ATTGTTTACCTGTCAGTTGAC ATTGTTTACCTGTCAGTTGAC - rs45590038 byFrequency TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr18:22901963_22901983delATTGTTTACCTGTCAGTTGAC ENST00000361524.3 - 3 357_369 c.220_splice c.e3+1 p.70_splice ZNF521_ENST00000538137.2_Splice_Site_p.70_splice|ZNF521_ENST00000579111.1_5'UTR|ZNF521_ENST00000584787.1_5'UTR NM_015461.2 NP_056276.1 Q96K83 ZN521_HUMAN zinc finger protein 521 70 cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein domain specific binding|zinc ion binding NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 149 all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991) AGTGATAAGTATTGTTTACCTGTCAGTTGACATTGATTAAT 0.380 T PAX5 ALL 26 85 --- --- --- --- LOC100287225 100287225 broad.mit.edu 37 18 48967698 48967698 + RNA DEL C C - rs148030020 by1000genomes TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr18:48967698delC ENST00000578152.1 + 0 216 NR_040075.1 gaagatagtgctaaatgattc 0.478 3 3 --- --- --- --- FCGBP 8857 broad.mit.edu 37 19 40430492 40430492 + Frame_Shift_Del DEL T T - TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:40430492delT ENST00000221347.6 - 3 1458 c.1451delA c.(1450-1452)gcfs p.D484fs NM_003890.2 NP_003881.2 Q9Y6R7 FCGBP_HUMAN Fc fragment of IgG binding protein 484 VWFD 1. extracellular region protein binding NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3) 165 all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06) Epithelial(26;6.25e-23)|all cancers(26;1.13e-20) GCGACGGCCGTCGAAGGTGGT 0.682 7 16 --- --- --- --- TTC9B 148014 broad.mit.edu 37 19 40723159 40723159 + Frame_Shift_Del DEL T T - TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr19:40723159delT ENST00000311308.6 - 2 562 c.545delA c.(544-546)tcfs p.Y182fs NM_152479.5 NP_689692.2 Q8N6N2 TTC9B_HUMAN tetratricopeptide repeat domain 9B 182 binding haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2) 5 GCCCAGGTGGTAGAAGGCAAT 0.662 24 46 --- --- --- --- FAM182A 284800 broad.mit.edu 37 20 26057515 26057516 + RNA INS - - A rs137975858 by1000genomes TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr20:26057515_26057516insA ENST00000376398.2 + 0 819 NR_026713.1 breast(1)|endometrium(2)|kidney(1) 4 agaaggagaacatttcttgatg 0.391 4 3 --- --- --- --- RP4-610C12.1 0 broad.mit.edu 37 20 29595625 29595625 + RNA DEL T T - rs111897002 TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr20:29595625delT ENST00000432067.1 - 0 74 TGTAAAAAAATCACAGGATCC 0.408 2 4 --- --- --- --- FRG1B 284802 broad.mit.edu 37 20 29632673 29632674 + Frame_Shift_Ins INS - - G rs141931431 by1000genomes TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr20:29632673_29632674insG ENST00000278882.3 + 8 868_869 c.488_489insG c.(487-489)caafs p.Q163fs FRG1B_ENST00000358464.4_Frame_Shift_Ins_p.Q163fs endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 AGTAAAATTCTTAAAAAGGCTC 0.317 76 1383 --- --- --- --- BAGE2 85319 broad.mit.edu 37 21 11066883 11066884 + RNA INS - - AA rs147216020 TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr21:11066883_11066884insAA ENST00000470054.1 - 0 324 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) TTAGAATCCATAATACTCTCAG 0.366 3 5 --- --- --- --- BAGE2 85319 broad.mit.edu 37 21 11069159 11069160 + RNA DEL TA TA - rs4009917 by1000genomes TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr21:11069159_11069160delTA ENST00000470054.1 - 0 324 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) aataatatattaaaaaaaactt 0.277 2 4 --- --- --- --- AP000282.2 0 broad.mit.edu 37 21 34409124 34409125 + RNA INS - - T TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr21:34409124_34409125insT ENST00000454622.1 - 0 201 AP000282.2_ENST00000420356.1_RNA CTCATTCACTATTTTTTTTTGT 0.431 2 4 --- --- --- --- BRD1 23774 broad.mit.edu 37 22 50169739 50169739 + Frame_Shift_Del DEL C C - TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chr22:50169739delC ENST00000216267.8 - 10 3283 c.2797delG c.(2797-2799)tgfs p.V933fs BRD1_ENST00000457780.2_3'UTR|BRD1_ENST00000542442.1_Frame_Shift_Del_p.V621fs|BRD1_ENST00000342989.5_Frame_Shift_Del_p.V659fs|BRD1_ENST00000404034.1_Frame_Shift_Del_p.V933fs|BRD1_ENST00000404760.1_Frame_Shift_Del_p.V1064fs NM_014577.1 NP_055392.1 O95696 BRD1_HUMAN bromodomain containing 1 933 PWWP. histone H3 acetylation MOZ/MORF histone acetyltransferase complex zinc ion binding endometrium(6)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|skin(1) 37 all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164) UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21) TTGGCCCACACCACCTTCAGA 0.682 25 63 --- --- --- --- F8 2157 broad.mit.edu 37 X 154091357 154091369 + Splice_Site DEL CTATTTAAATCAC CTATTTAAATCAC - TCGA-FR-A726-01A-11D-A32N-08 TCGA-FR-A726-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9f8bc7e-7db7-4d3d-a295-204f385216aa bdde0277-af3d-4c7d-a846-c8fe3fef8af5 g.chrX:154091357_154091369delCTATTTAAATCAC ENST00000360256.4 - 23 6763_6775 c.6574_splice c.e23+1 p.CDLNS2188_splice F8_ENST00000330287.6_Splice_Site_p.CDLNS53_splice NM_000132.3 NP_000123.1 P00451 FA8_HUMAN coagulation factor VIII, procoagulant component 2188 F5/8 type C 1. acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation extracellular space|plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity|protein binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2) 120 all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055) TTGGCACTTACTATTTAAATCACAGCCCATCAA 0.451 38 39 --- --- --- ---